#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
PLEC	5339	broad.mit.edu	37	8	144996316	144996316	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:144996316C>T	ENST00000322810.4	-	32	8253	c.8084G>A	c.(8083-8085)cGg>cAg	p.R2695Q	PLEC_ENST00000345136.3_Missense_Mutation_p.R2558Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R2544Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R2536Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R2558Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R2581Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R2585Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R2562Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R2526Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2695	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCATGCTGCCGCCGCCGCGC	0.706																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(8083-8085)cGg>cAg		plectin							6.0	7.0	6.0					8																	144996316		2070	4074	6144	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144996316C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8084G>A	8.37:g.144996316C>T	ENSP00000323856:p.Arg2695Gln					PLEC_ENST00000527096.1_Missense_Mutation_p.R2581Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R2544Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R2585Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R2562Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R2558Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R2526Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R2558Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R2536Q	p.R2695Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	8253	-			2695			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.8084G>A	CCDS43772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.17|11.17	1.558957|1.558957	0.27827|0.27827	.|.	.|.	ENSG00000178209|ENSG00000178209	ENST00000527303|ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.|T;T;T;T;T;T;T;T;T	.|0.74315	.|-0.79;-0.79;-0.83;-0.83;-0.81;-0.79;-0.8;-0.79;-0.79	4.05|4.05	2.25|2.25	0.28309|0.28309	.|.	.|0.346285	.|0.22589	.|N	.|0.058108	T|T	0.58380|0.58380	0.2118|0.2118	L|L	0.43152|0.43152	1.355|1.355	0.28021|0.28021	N|N	0.934505|0.934505	.|B;B;B;B;B;B;B;B	.|0.12630	.|0.002;0.006;0.002;0.001;0.002;0.002;0.002;0.002	.|B;B;B;B;B;B;B;B	.|0.04013	.|0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001	T|T	0.39603|0.39603	-0.9606|-0.9606	5|10	.|0.11182	.|T	.|0.66	.|.	5.7972|5.7972	0.18394|0.18394	0.0:0.5161:0.0:0.4839|0.0:0.5161:0.0:0.4839	.|.	.|2585;2544;2536;2695;2526;2558;2562;2558	.|Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.|.;.;.;PLEC_HUMAN;.;.;.;.	S|Q	128|2558;2562;2558;2526;2695;2536;2544;2585;2581	.|ENSP00000344848:R2558Q;ENSP00000350277:R2562Q;ENSP00000346602:R2558Q;ENSP00000381756:R2526Q;ENSP00000323856:R2695Q;ENSP00000347044:R2536Q;ENSP00000348702:R2544Q;ENSP00000388180:R2585Q;ENSP00000434583:R2581Q	.|ENSP00000323856:R2695Q	G|R	-|-	1|2	0|0	PLEC|PLEC	145068304|145068304	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.661000|0.661000	0.39034|0.39034	3.040000|3.040000	0.49799|0.49799	0.381000|0.381000	0.24851|0.24851	0.443000|0.443000	0.29094|0.29094	GGC|CGG		0.706	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	12	0	0	0	1	0	3	12				
SMG5	23381	broad.mit.edu	37	1	156235591	156235591	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:156235591T>C	ENST00000361813.5	-	12	1980	c.1836A>G	c.(1834-1836)gtA>gtG	p.V612V	SMG5_ENST00000368267.5_Intron|SMG5_ENST00000489907.2_5'Flank	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	612					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AAGGCTTGTCTACATCCCCAT	0.577																																						ENST00000361813.5																			0				NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48						c.(1834-1836)gtA>gtG		SMG5 nonsense mediated mRNA decay factor							136.0	136.0	136.0					1																	156235591		2203	4300	6503	SO:0001819	synonymous_variant	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156235591T>C	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.1836A>G	1.37:g.156235591T>C						SMG5_ENST00000368267.4_Intron	p.V612V	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN			12	1980	-	Hepatocellular(266;0.158)		612					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	ENST00000361813.5	37	c.1836A>G	CCDS1137.1																																																																																				0.577	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		64	199	0	0	0	1	0	64	199				
CHCHD2	51142	broad.mit.edu	37	7	56171984	56171984	+	Missense_Mutation	SNP	C	C	T	rs200784526		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:56171984C>T	ENST00000395422.3	-	2	397	c.235G>A	c.(235-237)Gcc>Acc	p.A79T		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	79						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCAGTAATGGCGTGACCCAAT	0.602																																						ENST00000395422.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(235-237)Gcc>Acc		coiled-coil-helix-coiled-coil-helix domain containing 2							54.0	51.0	52.0					7																	56171984		2203	4300	6503	SO:0001583	missense	51142					mitochondrion		g.chr7:56171984C>T	AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	21645	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 17"""	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.235G>A	7.37:g.56171984C>T	ENSP00000378812:p.Ala79Thr						p.A79T	NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	397	-	Breast(14;0.214)		79					Q498C3|Q6NZ50	Missense_Mutation	SNP	ENST00000395422.3	37	c.235G>A	CCDS5526.1	.	.	.	.	.	.	.	.	.	.	C	36	5.724345	0.96847	.	.	ENSG00000106153	ENST00000395422	T	0.50277	0.75	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	M	0.78916	2.43	0.80722	D	1	D	0.65815	0.995	P	0.58520	0.84	T	0.68918	-0.5282	10	0.52906	T	0.07	.	18.6292	0.91354	0.0:1.0:0.0:0.0	.	79	Q9Y6H1	CHCH2_HUMAN	T	79	ENSP00000378812:A79T	ENSP00000378812:A79T	A	-	1	0	CHCHD2	56139478	1.000000	0.71417	0.996000	0.52242	0.897000	0.52465	7.678000	0.84035	2.655000	0.90218	0.655000	0.94253	GCC		0.602	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251589.1	NM_016139		31	83	0	0	0	1	0	31	83				
HPS5	11234	broad.mit.edu	37	11	18319255	18319255	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18319255T>C	ENST00000349215.3	-	11	1451	c.1174A>G	c.(1174-1176)Act>Gct	p.T392A	HPS5_ENST00000396253.3_Missense_Mutation_p.T278A|HPS5_ENST00000531848.1_Missense_Mutation_p.T278A|HPS5_ENST00000438420.2_Missense_Mutation_p.T278A|HPS5_ENST00000352460.3_5'Flank	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	392					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCAGTCAAAGTTTTTCTTGCC	0.368									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(832-834)Act>Gct		Hermansky-Pudlak syndrome 5							73.0	72.0	72.0					11																	18319255		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18319255T>C	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1174A>G	11.37:g.18319255T>C	ENSP00000265967:p.Thr392Ala					HPS5_ENST00000438420.2_Missense_Mutation_p.T278A|HPS5_ENST00000531848.1_Missense_Mutation_p.T278A|HPS5_ENST00000349215.3_Missense_Mutation_p.T392A	p.T278A	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			10	1294	-			392					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.832A>G	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	T	1.869	-0.460767	0.04508	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	T;T;T;T	0.54071	0.59;0.59;0.59;1.6	5.23	2.84	0.33178	.	0.644385	0.16994	N	0.191182	T	0.32255	0.0823	N	0.25647	0.755	0.22112	N	0.999354	B	0.10296	0.003	B	0.08055	0.003	T	0.19943	-1.0290	10	0.15499	T	0.54	.	4.8817	0.13683	0.1822:0.1593:0.0:0.6584	.	392	Q9UPZ3	HPS5_HUMAN	A	278;278;392;278	ENSP00000379552:T278A;ENSP00000399590:T278A;ENSP00000265967:T392A;ENSP00000431758:T278A	ENSP00000265967:T392A	T	-	1	0	HPS5	18275831	0.998000	0.40836	0.993000	0.49108	0.746000	0.42486	0.414000	0.21164	0.282000	0.22254	0.379000	0.24179	ACT		0.368	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		6	99	0	0	0	1	0	6	99				
PAN2	9924	broad.mit.edu	37	12	56722344	56722344	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56722344T>C	ENST00000425394.2	-	3	740	c.364A>G	c.(364-366)Atc>Gtc	p.I122V	PAN2_ENST00000548043.1_Missense_Mutation_p.I122V|PAN2_ENST00000257931.5_Missense_Mutation_p.I122V|PAN2_ENST00000440411.3_Missense_Mutation_p.I122V	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			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					Vitamin A(DB00162)	AGGCTCTGGATCTGCCGAATA	0.468																																						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.(364-366)Atc>Gtc		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							75.0	74.0	75.0					12																	56722344		2203	4300	6503	SO:0001583	missense	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.chr12:56722344T>C	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.364A>G	12.37:g.56722344T>C	ENSP00000401721:p.Ile122Val					PAN2_ENST00000257931.5_Missense_Mutation_p.I122V|PAN2_ENST00000548043.1_Missense_Mutation_p.I122V|PAN2_ENST00000440411.3_Missense_Mutation_p.I122V	p.I122V	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			3	740	-			122						Missense_Mutation	SNP	ENST00000425394.2	37	c.364A>G	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.679123	0.47886	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.07	5.07	0.68467	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	L	0.60845	1.875	0.54753	D	0.999982	P;B;B	0.34615	0.459;0.384;0.33	B;B;B	0.34093	0.175;0.116;0.026	T	0.58160	-0.7685	10	0.32370	T	0.25	-19.3437	14.258	0.66065	0.0:0.0:0.0:1.0	.	122;122;122	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	V	122	ENSP00000401721:I122V;ENSP00000388231:I122V;ENSP00000257931:I122V;ENSP00000449861:I122V	ENSP00000257931:I122V	I	-	1	0	PAN2	55008611	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	6.049000	0.71053	2.261000	0.74972	0.528000	0.53228	ATC		0.468	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		45	94	0	0	0	1	0	45	94				
SEC24A	10802	broad.mit.edu	37	5	134002615	134002615	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:134002615C>T	ENST00000398844.2	+	3	956	c.668C>T	c.(667-669)gCc>gTc	p.A223V	SEC24A_ENST00000322887.4_Missense_Mutation_p.A223V	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	223	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAGTGAGGGCCCTCACGCCC	0.517																																						ENST00000398844.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(667-669)gCc>gTc		SEC24 family member A							57.0	59.0	58.0					5																	134002615		1815	4077	5892	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134002615C>T	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.668C>T	5.37:g.134002615C>T	ENSP00000381823:p.Ala223Val					SEC24A_ENST00000322887.4_Missense_Mutation_p.A223V	p.A223V	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	956	+			223			Pro-rich.		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.668C>T	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	C	6.217	0.408158	0.11754	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	T;T	0.47869	1.08;0.83	4.94	0.894	0.19242	.	1.155260	0.06575	N	0.749223	T	0.30665	0.0772	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22034	-1.0228	10	0.13853	T	0.58	1.1994	7.0011	0.24809	0.0:0.5747:0.274:0.1513	.	223	O95486	SC24A_HUMAN	V	223	ENSP00000381823:A223V;ENSP00000321749:A223V	ENSP00000321749:A223V	A	+	2	0	SEC24A	134030514	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.225000	0.17757	-0.067000	0.12976	-0.241000	0.12123	GCC		0.517	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			17	104	0	0	0	1	0	17	104				
MAP3K3	4215	broad.mit.edu	37	17	61770959	61770959	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:61770959C>T	ENST00000361733.3	+	16	2023	c.1703C>T	c.(1702-1704)gCa>gTa	p.A568V	MAP3K3_ENST00000579585.1_Missense_Mutation_p.A599V|MAP3K3_ENST00000361357.3_Missense_Mutation_p.A599V|MAP3K3_ENST00000584573.1_Missense_Mutation_p.A595V|MAP3K3_ENST00000577395.1_Missense_Mutation_p.A564V	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	568	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCACCGTGGGCAGAGTATGAA	0.602																																						ENST00000361357.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1795-1797)gCa>gTa		mitogen-activated protein kinase kinase kinase 3							131.0	111.0	118.0					17																	61770959		2203	4300	6503	SO:0001583	missense	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61770959C>T	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.1703C>T	17.37:g.61770959C>T	ENSP00000354485:p.Ala568Val					MAP3K3_ENST00000579585.1_Missense_Mutation_p.A599V|MAP3K3_ENST00000577395.1_Missense_Mutation_p.A564V|MAP3K3_ENST00000361733.3_Missense_Mutation_p.A568V|MAP3K3_ENST00000584573.1_Missense_Mutation_p.A595V	p.A599V	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN			17	2114	+			568			Protein kinase.		B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	c.1796C>T	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551524	0.86127	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.66099	-0.19;-0.19	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	N	0.16708	0.43	0.80722	D	1	P;P;P;D	0.53619	0.949;0.949;0.949;0.961	P;P;P;P	0.57960	0.83;0.83;0.83;0.823	T	0.63743	-0.6568	10	0.34782	T	0.22	.	18.1955	0.89820	0.0:1.0:0.0:0.0	.	564;536;568;599	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	V	599;568	ENSP00000354927:A599V;ENSP00000354485:A568V	ENSP00000354927:A599V	A	+	2	0	MAP3K3	59124691	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.792000	0.85828	2.300000	0.77407	0.561000	0.74099	GCA		0.602	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		35	107	0	0	0	1	0	35	107				
C3orf17	25871	broad.mit.edu	37	3	112730221	112730221	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:112730221A>G	ENST00000314400.5	-	6	775	c.584T>C	c.(583-585)aTt>aCt	p.I195T	C3orf17_ENST00000383675.2_Missense_Mutation_p.I125T|C3orf17_ENST00000472762.1_5'Flank|C3orf17_ENST00000393857.2_Missense_Mutation_p.I59T	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	195					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						ATATAACAAAATCAACCTTTT	0.343																																						ENST00000314400.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(583-585)aTt>aCt		chromosome 3 open reading frame 17							69.0	79.0	76.0					3																	112730221		2182	4280	6462	SO:0001583	missense	25871					integral to membrane		g.chr3:112730221A>G	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.584T>C	3.37:g.112730221A>G	ENSP00000320251:p.Ile195Thr					C3orf17_ENST00000393857.2_Missense_Mutation_p.I59T|C3orf17_ENST00000383675.2_Missense_Mutation_p.I125T	p.I195T	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN			6	775	-			195					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	ENST00000314400.5	37	c.584T>C	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	A	8.200	0.797925	0.16327	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000393857	T;T;T	0.49720	0.77;2.35;0.77	5.58	3.24	0.37175	.	0.742207	0.13175	N	0.407937	T	0.27489	0.0675	N	0.16368	0.405	0.09310	N	1	B;B;B	0.12013	0.001;0.002;0.005	B;B;B	0.12156	0.005;0.007;0.006	T	0.13656	-1.0501	10	0.33141	T	0.24	-0.3115	4.1969	0.10447	0.6475:0.1757:0.1768:0.0	.	84;125;195	E7EN80;Q6NW34-2;Q6NW34	.;.;CC017_HUMAN	T	195;125;59	ENSP00000320251:I195T;ENSP00000373173:I125T;ENSP00000377438:I59T	ENSP00000320251:I195T	I	-	2	0	C3orf17	114212911	0.003000	0.15002	0.061000	0.19648	0.847000	0.48162	1.262000	0.32992	0.956000	0.37904	0.533000	0.62120	ATT		0.343	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		41	100	0	0	0	1	0	41	100				
SCUBE3	222663	broad.mit.edu	37	6	35205733	35205733	+	Missense_Mutation	SNP	C	C	T	rs17854740		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:35205733C>T	ENST00000274938.7	+	7	767	c.767C>T	c.(766-768)aCt>aTt	p.T256I	SCUBE3_ENST00000394681.1_Missense_Mutation_p.T272I	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GATGCAGCGACTGGTGTCCAC	0.547																																						ENST00000274938.7																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(766-768)aCt>aTt		signal peptide, CUB domain, EGF-like 3							123.0	102.0	109.0					6																	35205733		2203	4300	6503	SO:0001583	missense	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35205733C>T	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.767C>T	6.37:g.35205733C>T	ENSP00000274938:p.Thr256Ile					SCUBE3_ENST00000394681.1_Missense_Mutation_p.T272I	p.T256I	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN			7	767	+			256	T -> I (in Ref. 6; AAH52263).		EGF-like 6.			Missense_Mutation	SNP	ENST00000274938.7	37	c.767C>T	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528122	0.85706	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	D;D	0.96491	-4.03;-4.03	5.38	5.38	0.77491	Epidermal growth factor-like (1);	0.058284	0.64402	D	0.000002	D	0.94719	0.8296	N	0.16098	0.37	0.80722	D	1	D;D	0.64830	0.994;0.986	P;P	0.62298	0.9;0.617	D	0.95226	0.8338	10	0.44086	T	0.13	.	19.1344	0.93420	0.0:1.0:0.0:0.0	rs17854740	272;256	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	I	272;256	ENSP00000378174:T272I;ENSP00000274938:T256I	ENSP00000274938:T256I	T	+	2	0	SCUBE3	35313711	1.000000	0.71417	0.091000	0.20842	0.965000	0.64279	7.720000	0.84759	2.523000	0.85059	0.491000	0.48974	ACT		0.547	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		41	114	0	0	0	1	0	41	114				
PARP12	64761	broad.mit.edu	37	7	139756833	139756833	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:139756833A>G	ENST00000263549.3	-	3	1456	c.583T>C	c.(583-585)Tgt>Cgt	p.C195R		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	195						nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GATCTCTTACAGCTAGTGCCA	0.458																																						ENST00000263549.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(583-585)Tgt>Cgt		poly (ADP-ribose) polymerase family, member 12							87.0	93.0	91.0					7																	139756833		2203	4300	6503	SO:0001583	missense	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139756833A>G	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.583T>C	7.37:g.139756833A>G	ENSP00000263549:p.Cys195Arg						p.C195R	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN			3	1456	-	Melanoma(164;0.0142)		195					Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	c.583T>C	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.747519	0.69533	.	.	ENSG00000059378	ENST00000263549	D	0.99951	-8.74	5.61	5.61	0.85477	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	D	0.99943	0.9975	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95254	0.8362	10	0.87932	D	0	.	15.8048	0.78491	1.0:0.0:0.0:0.0	.	195	Q9H0J9	PAR12_HUMAN	R	195	ENSP00000263549:C195R	ENSP00000263549:C195R	C	-	1	0	PARP12	139403302	1.000000	0.71417	0.998000	0.56505	0.616000	0.37450	8.482000	0.90439	2.138000	0.66242	0.445000	0.29226	TGT		0.458	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		42	111	0	0	0	1	0	42	111				
UGT1A3	54659	broad.mit.edu	37	2	234638471	234638471	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:234638471C>T	ENST00000482026.1	+	1	718	c.699C>T	c.(697-699)agC>agT	p.S233S	UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Silent_p.S233S|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	233					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	CTTATGCAAGCCTTGCCTCTG	0.493																																						ENST00000482026.1																			0				breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46						c.(697-699)agC>agT									251.0	242.0	245.0					2																	234638471		2203	4300	6503	SO:0001819	synonymous_variant	54659							g.chr2:234638471C>T	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.699C>T	2.37:g.234638471C>T						UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron	p.S233S	NM_019093.2	NP_061966.1				Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	718	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B8K287	Silent	SNP	ENST00000482026.1	37	c.699C>T	CCDS2509.1																																																																																				0.493	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		29	323	0	0	0	1	0	29	323				
NIPBL	25836	broad.mit.edu	37	5	36986173	36986173	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:36986173A>T	ENST00000282516.8	+	10	3390	c.2891A>T	c.(2890-2892)gAt>gTt	p.D964V	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.D964V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	964					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATCAAGAGGGATAAAGATGGC	0.368																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(2890-2892)gAt>gTt		Nipped-B homolog (Drosophila)							120.0	127.0	125.0					5																	36986173		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36986173A>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2891A>T	5.37:g.36986173A>T	ENSP00000282516:p.Asp964Val					NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.D964V	p.D964V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	3390	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		964					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.2891A>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.449664	0.63178	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94966	-3.57;-3.56	6.17	6.17	0.99709	.	0.052358	0.85682	D	0.000000	D	0.92153	0.7512	N	0.24115	0.695	0.80722	D	1	P;P	0.45348	0.856;0.739	B;P	0.46917	0.33;0.531	D	0.92694	0.6169	10	0.51188	T	0.08	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	964;964	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	V	964	ENSP00000282516:D964V;ENSP00000406266:D964V	ENSP00000282516:D964V	D	+	2	0	NIPBL	37021930	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.012000	0.76366	2.371000	0.80710	0.533000	0.62120	GAT		0.368	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		34	129	0	0	0	1	0	34	129				
KDM4B	23030	broad.mit.edu	37	19	5047569	5047569	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:5047569T>C	ENST00000159111.4	+	6	733	c.515T>C	c.(514-516)gTg>gCg	p.V172A	KDM4B_ENST00000536461.1_Missense_Mutation_p.V172A|KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.V172A	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	172	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATCGAGGGCGTGAACACGCCC	0.622																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(514-516)gTg>gCg		lysine (K)-specific demethylase 4B							164.0	121.0	136.0					19																	5047569		2203	4300	6503	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5047569T>C	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.515T>C	19.37:g.5047569T>C	ENSP00000159111:p.Val172Ala					KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Missense_Mutation_p.V172A|KDM4B_ENST00000381759.4_Missense_Mutation_p.V172A	p.V172A	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			6	733	+			172			JmjC.		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.515T>C	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	T	31	5.064700	0.93898	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.71461	-0.57;-0.57;-0.57	4.32	4.32	0.51571	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.64402	D	0.000001	D	0.90089	0.6904	H	0.98818	4.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;0.999	D	0.93625	0.6951	10	0.87932	D	0	-57.3288	13.6209	0.62136	0.0:0.0:0.0:1.0	.	172;172;172	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	A	172	ENSP00000159111:V172A;ENSP00000371178:V172A;ENSP00000440495:V172A	ENSP00000159111:V172A	V	+	2	0	KDM4B	4998569	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.779000	0.85648	1.803000	0.52742	0.533000	0.62120	GTG		0.622	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		46	117	0	0	0	1	0	46	117				
ATM	472	broad.mit.edu	37	11	108225545	108225545	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:108225545G>A	ENST00000452508.2	+	62	8983	c.8794G>A	c.(8794-8796)Gag>Aag	p.E2932K	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000278616.4_Missense_Mutation_p.E2932K			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2932	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TAGATGCTGTGAGAAAACCAT	0.343			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8794-8796)Gag>Aag	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							183.0	192.0	189.0					11																	108225545		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108225545G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8794G>A	11.37:g.108225545G>A	ENSP00000388058:p.Glu2932Lys	TSP Lung(14;0.12)				C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.E2932K|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000525178.1_3'UTR	p.E2932K	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	61	9179	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2932			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8794G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	36	5.709558	0.96821	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.77620	-1.11;-1.11	5.72	5.72	0.89469	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.90563	0.7042	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91611	0.5303	10	0.87932	D	0	.	19.8745	0.96864	0.0:0.0:1.0:0.0	.	2932	Q13315	ATM_HUMAN	K	2932	ENSP00000278616:E2932K;ENSP00000388058:E2932K	ENSP00000278616:E2932K	E	+	1	0	ATM	107730755	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.831000	0.99420	2.704000	0.92352	0.467000	0.42956	GAG		0.343	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		46	125	0	0	0	1	0	46	125				
C12orf50	160419	broad.mit.edu	37	12	88379796	88379796	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:88379796A>G	ENST00000298699.2	-	11	1137	c.957T>C	c.(955-957)agT>agC	p.S319S	C12orf50_ENST00000550553.1_Silent_p.S280S	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	319										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGCGGTGATAACTCATTTTAT	0.438																																						ENST00000298699.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						c.(955-957)agT>agC		chromosome 12 open reading frame 50							161.0	157.0	158.0					12																	88379796		2203	4300	6503	SO:0001819	synonymous_variant	160419							g.chr12:88379796A>G	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.957T>C	12.37:g.88379796A>G						C12orf50_ENST00000550553.1_Silent_p.S280S	p.S319S	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN			11	1137	-			319					Q6P674	Silent	SNP	ENST00000298699.2	37	c.957T>C	CCDS9031.1																																																																																				0.438	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		35	131	0	0	0	1	0	35	131				
KAZALD1	81621	broad.mit.edu	37	10	102824394	102824394	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:102824394T>C	ENST00000370200.5	+	4	1135	c.809T>C	c.(808-810)gTg>gCg	p.V270A		NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	270					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|regulation of cell growth (GO:0001558)	interstitial matrix (GO:0005614)				endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		AGCTTGACAGTGCTCACACCT	0.567																																						ENST00000370200.5																			0				endometrium(1)|ovary(1)|prostate(2)	4						c.(808-810)gTg>gCg		Kazal-type serine peptidase inhibitor domain 1							49.0	48.0	48.0					10																	102824394		2203	4300	6503	SO:0001583	missense	81621				cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding	g.chr10:102824394T>C	AF333487	CCDS7509.1	10q24.32	2013-01-11	2005-08-17		ENSG00000107821	ENSG00000107821		"""Immunoglobulin superfamily / I-set domain containing"""	25460	protein-coding gene	gene with protein product		609208	"""Kazal-type serine protease inhibitor domain 1"""			12975309	Standard	NM_030929		Approved	FKSG40, FKSG28	uc001ksr.3	Q96I82	OTTHUMG00000018918	ENST00000370200.5:c.809T>C	10.37:g.102824394T>C	ENSP00000359219:p.Val270Ala						p.V270A	NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)	4	1135	+			270					D3DR74|Q6ZMB1|Q9BQ73	Missense_Mutation	SNP	ENST00000370200.5	37	c.809T>C	CCDS7509.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.700789	0.88924	.	.	ENSG00000107821	ENST00000370200	D	0.99105	-5.43	5.53	5.53	0.82687	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.055300	0.64402	D	0.000001	D	0.99603	0.9856	H	0.98577	4.27	0.58432	D	0.999997	D	0.89917	1.0	D	0.77004	0.989	D	0.97570	1.0104	10	0.87932	D	0	.	15.6564	0.77140	0.0:0.0:0.0:1.0	.	270	Q96I82	KAZD1_HUMAN	A	270	ENSP00000359219:V270A	ENSP00000359219:V270A	V	+	2	0	KAZALD1	102814384	1.000000	0.71417	0.983000	0.44433	0.968000	0.65278	7.533000	0.81994	2.099000	0.63709	0.459000	0.35465	GTG		0.567	KAZALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049891.2	NM_030929		20	59	0	0	0	1	0	20	59				
FRY	10129	broad.mit.edu	37	13	32698424	32698424	+	Splice_Site	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:32698424G>A	ENST00000380250.3	+	5	962	c.466G>A	c.(466-468)Gat>Aat	p.D156N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	156						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATTTTACAGCGATGAACAACA	0.313																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.e5-1		furry homolog (Drosophila)							39.0	37.0	38.0					13																	32698424		1796	4063	5859	SO:0001630	splice_region_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32698424G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.465-1G>A	13.37:g.32698424G>A							p.D156_splice	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	5	962	+		Lung SC(185;0.0271)	156					Q9Y3N6	Splice_Site	SNP	ENST00000380250.3	37	c.464_splice	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580534	0.65992	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	T	0.24350	1.86	5.47	5.47	0.80525	.	0.059886	0.64402	D	0.000004	T	0.50582	0.1624	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.52961	-0.8505	10	0.87932	D	0	.	14.537	0.67969	0.0724:0.0:0.9276:0.0	.	156	Q5TBA9	FRY_HUMAN	N	156;98	ENSP00000369600:D156N	ENSP00000267067:D98N	D	+	1	0	FRY	31596424	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.411000	0.59781	2.572000	0.86782	0.655000	0.94253	GAT		0.313	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	Missense_Mutation	5	38	0	0	0	1	0	5	38				
GNB1	2782	broad.mit.edu	37	1	1721839	1721839	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:1721839T>C	ENST00000378609.4	-	9	1025	c.694A>G	c.(694-696)Att>Gtt	p.I232V		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	232					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CTCACGCAAATGGCATTGATG	0.522																																						ENST00000378609.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12						c.(694-696)Att>Gtt		guanine nucleotide binding protein (G protein), beta polypeptide 1							76.0	70.0	72.0					1																	1721839		2203	4300	6503	SO:0001583	missense	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1721839T>C	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.694A>G	1.37:g.1721839T>C	ENSP00000367872:p.Ile232Val						p.I232V	NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	9	1025	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	232					B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.694A>G	CCDS34.1	.	.	.	.	.	.	.	.	.	.	T	2.606	-0.291857	0.05568	.	.	ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606	T	0.58652	0.32	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047315	0.85682	D	0.000000	T	0.36663	0.0975	N	0.16166	0.38	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.28776	-1.0033	10	0.02654	T	1	-5.4893	14.6617	0.68876	0.0:0.0:0.0:1.0	.	232	P62873	GBB1_HUMAN	V	232;132;232	ENSP00000367872:I232V	ENSP00000367869:I232V	I	-	1	0	GNB1	1711699	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	4.963000	0.63694	2.053000	0.61076	0.533000	0.62120	ATT		0.522	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074		4	76	0	0	0	1	0	4	76				
TFRC	7037	broad.mit.edu	37	3	195785204	195785204	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:195785204G>T	ENST00000360110.4	-	16	1797	c.1628C>A	c.(1627-1629)cCt>cAt	p.P543H	TFRC_ENST00000535031.1_Missense_Mutation_p.P261H|TFRC_ENST00000392396.3_Missense_Mutation_p.P543H|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000420415.1_Missense_Mutation_p.P462H|TFRC_ENST00000465288.1_5'UTR	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	543					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	TGCAAGGAAAGGGAAAGCAGC	0.388			T	BCL6	NHL																																	ENST00000360110.4				Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1627-1629)cCt>cAt		transferrin receptor							132.0	138.0	136.0					3																	195785204		2203	4300	6503	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195785204G>T	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1628C>A	3.37:g.195785204G>T	ENSP00000353224:p.Pro543His					TFRC_ENST00000420415.1_Missense_Mutation_p.P462H|TFRC_ENST00000392396.3_Missense_Mutation_p.P543H|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.P261H|TFRC_ENST00000465288.1_5'UTR	p.P543H	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	16	1797	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		543					D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	c.1628C>A	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605370	0.87157	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T	0.73789	0.91;0.91;0.91;-0.78	5.32	5.32	0.75619	Peptidase M28 (1);	0.047006	0.85682	D	0.000000	D	0.88738	0.6518	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90536	0.4499	10	0.87932	D	0	-22.9094	18.338	0.90295	0.0:0.0:1.0:0.0	.	543	P02786	TFR1_HUMAN	H	543;462;543;261	ENSP00000353224:P543H;ENSP00000390133:P462H;ENSP00000376197:P543H;ENSP00000437753:P261H	ENSP00000353224:P543H	P	-	2	0	TFRC	197269601	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	9.037000	0.93765	2.636000	0.89361	0.585000	0.79938	CCT		0.388	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			46	142	1	0	1.15181e-12	1	1.20023e-12	46	142				
KIT	3815	broad.mit.edu	37	4	55561942	55561942	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:55561942T>C	ENST00000288135.5	+	2	429	c.332T>C	c.(331-333)gTt>gCt	p.V111A		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	111	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TATGTGTTTGTTAGAGGTAAA	0.408		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(331-333)gTt>gCt		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						51.0	51.0	51.0					4																	55561942		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55561942T>C	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.332T>C	4.37:g.55561942T>C	ENSP00000288135:p.Val111Ala						p.V111A	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	2	429	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		111			Ig-like C2-type 1.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.332T>C	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557126	0.65425	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.71579	-0.58;-0.58	5.2	5.2	0.72013	Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000048	D	0.85199	0.5642	M	0.86502	2.82	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87704	0.2562	10	0.87932	D	0	.	12.9423	0.58352	0.0:0.0:0.0:1.0	.	111;111	P10721-2;P10721	.;KIT_HUMAN	A	111	ENSP00000288135:V111A;ENSP00000390987:V111A	ENSP00000288135:V111A	V	+	2	0	KIT	55256699	1.000000	0.71417	0.998000	0.56505	0.564000	0.35744	4.494000	0.60347	2.189000	0.69895	0.533000	0.62120	GTT		0.408	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			14	36	0	0	0	1	0	14	36				
NRP2	8828	broad.mit.edu	37	2	206592754	206592754	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:206592754A>G	ENST00000357785.5	+	7	1161	c.1130A>G	c.(1129-1131)cAt>cGt	p.H377R	NRP2_ENST00000540841.1_Missense_Mutation_p.H377R|NRP2_ENST00000412873.2_Missense_Mutation_p.H377R|NRP2_ENST00000357118.4_Missense_Mutation_p.H377R|NRP2_ENST00000540178.1_Missense_Mutation_p.H377R|NRP2_ENST00000355117.4_Missense_Mutation_p.H377R|NRP2_ENST00000417189.1_Missense_Mutation_p.H377R|NRP2_ENST00000360409.3_Missense_Mutation_p.H377R|NRP2_ENST00000272849.3_Missense_Mutation_p.H377R			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GTGTACCGGCATGGCAAAAAC	0.502																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1129-1131)cAt>cGt		neuropilin 2							113.0	103.0	106.0					2																	206592754		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206592754A>G	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1130A>G	2.37:g.206592754A>G	ENSP00000350432:p.His377Arg					NRP2_ENST00000357785.5_Missense_Mutation_p.H377R|NRP2_ENST00000417189.1_Missense_Mutation_p.H377R|NRP2_ENST00000357118.4_Missense_Mutation_p.H377R|NRP2_ENST00000540178.1_Missense_Mutation_p.H377R|NRP2_ENST00000355117.4_Missense_Mutation_p.H377R|NRP2_ENST00000540841.1_Missense_Mutation_p.H377R|NRP2_ENST00000412873.2_Missense_Mutation_p.H377R|NRP2_ENST00000272849.3_Missense_Mutation_p.H377R	p.H377R	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			7	1921	+			377			F5/8 type C 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.1130A>G	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.051478	0.55218	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24;-4.24;-4.24;-4.24;-4.24;-4.24	6.17	6.17	0.99709	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.087236	0.85682	D	0.000000	D	0.96731	0.8933	N	0.20574	0.59	0.54753	D	0.999988	D;D;D;D;D;D	0.67145	0.992;0.992;0.983;0.996;0.996;0.989	P;P;D;D;D;P	0.72338	0.879;0.879;0.977;0.932;0.932;0.894	D	0.97324	0.9946	10	0.45353	T	0.12	-23.3855	16.8222	0.85835	1.0:0.0:0.0:0.0	.	377;377;377;377;377;377	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	R	377	ENSP00000353582:H377R;ENSP00000439658:H377R;ENSP00000439261:H377R;ENSP00000347238:H377R;ENSP00000387519:H377R;ENSP00000349632:H377R;ENSP00000350432:H377R;ENSP00000407626:H377R;ENSP00000272849:H377R	ENSP00000272849:H377R	H	+	2	0	NRP2	206300999	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.353000	0.79414	2.371000	0.80710	0.533000	0.62120	CAT		0.502	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			21	52	0	0	0	1	0	21	52				
MEGF9	1955	broad.mit.edu	37	9	123367647	123367647	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:123367647G>A	ENST00000373930.3	-	6	1741	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	MEGF9_ENST00000426959.1_Missense_Mutation_p.R581W	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	544						integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TTGAGTTTCCGGTTTTGGTAC	0.443																																						ENST00000373930.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						c.(1630-1632)Cgg>Tgg		multiple EGF-like-domains 9							162.0	154.0	156.0					9																	123367647		1920	4148	6068	SO:0001583	missense	1955					integral to membrane	calcium ion binding	g.chr9:123367647G>A	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1630C>T	9.37:g.123367647G>A	ENSP00000363040:p.Arg544Trp					MEGF9_ENST00000426959.1_Missense_Mutation_p.R581W	p.R544W	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN			6	1741	-			544					B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	c.1630C>T	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267521	0.59540	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.22945	1.93;2.01	5.67	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.35913	0.0948	N	0.24115	0.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.22695	-1.0209	10	0.87932	D	0	-9.5827	12.2142	0.54396	0.0:0.0:0.6214:0.3786	.	581	C9J1K8	.	W	544;581	ENSP00000363040:R544W;ENSP00000392666:R581W	ENSP00000363040:R544W	R	-	1	2	MEGF9	122407468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.786000	0.62425	1.366000	0.46076	0.655000	0.94253	CGG		0.443	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		38	135	0	0	0	1	0	38	135				
CD320	51293	broad.mit.edu	37	19	8369979	8369979	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:8369979C>T	ENST00000301458.5	-	2	268	c.204G>A	c.(202-204)gtG>gtA	p.V68V	CD320_ENST00000537716.2_Intron|CD320_ENST00000596246.1_5'Flank	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	68	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						AGGTGAGGGGCACGCATAAGC	0.652																																						ENST00000301458.5																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						c.(202-204)gtG>gtA		CD320 molecule							57.0	51.0	53.0					19																	8369979		2203	4300	6503	SO:0001819	synonymous_variant	51293				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity	g.chr19:8369979C>T	AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"""CD molecules"""	16692	protein-coding gene	gene with protein product	"""8D6 antigen"""	606475	"""CD320 antigen"""			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.204G>A	19.37:g.8369979C>T						CD320_ENST00000537716.2_Intron	p.V68V	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN			2	268	-			68			LDL-receptor class A 1.		B2RDS5|D6W668|F5H6D3|Q53HF7	Silent	SNP	ENST00000301458.5	37	c.204G>A	CCDS12198.1																																																																																				0.652	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461366.1	NM_016579		9	25	0	0	0	1	0	9	25				
GPNMB	10457	broad.mit.edu	37	7	23293794	23293794	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:23293794G>A	ENST00000381990.2	+	3	391	c.230G>A	c.(229-231)cGt>cAt	p.R77H	GPNMB_ENST00000258733.4_Missense_Mutation_p.R77H|GPNMB_ENST00000453162.2_Missense_Mutation_p.R77H|GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000409458.3_Missense_Mutation_p.R77H	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	77					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CTAGGAGGCCGTGTGCAGGCG	0.463																																						ENST00000258733.4																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(229-231)cGt>cAt		glycoprotein (transmembrane) nmb							102.0	109.0	107.0					7																	23293794		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23293794G>A	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.230G>A	7.37:g.23293794G>A	ENSP00000371420:p.Arg77His					GPNMB_ENST00000453162.2_Missense_Mutation_p.R77H|GPNMB_ENST00000381990.2_Missense_Mutation_p.R77H|GPNMB_ENST00000409458.3_Missense_Mutation_p.R77H|GPNMB_ENST00000539136.1_Intron	p.R77H			Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		3	525	+			77					A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.230G>A	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845739	0.32606	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000409458;ENST00000453162	T;T;T	0.14893	2.47;2.48;2.48	6.11	-5.56	0.02529	.	1.430790	0.03901	N	0.280251	T	0.12860	0.0312	N	0.17723	0.515	0.09310	N	1	B;B;B;B	0.15473	0.001;0.002;0.001;0.013	B;B;B;B	0.13407	0.002;0.002;0.002;0.009	T	0.24404	-1.0161	10	0.34782	T	0.22	1.9611	16.0594	0.80830	0.5326:0.0:0.4674:0.0	.	77;77;77;77	F5GY20;Q14956;Q14956-2;Q96F58	.;GPNMB_HUMAN;.;.	H	77;112;77;77;77	ENSP00000258733:R77H;ENSP00000371420:R77H;ENSP00000405586:R77H	ENSP00000258733:R77H	R	+	2	0	GPNMB	23260319	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-0.225000	0.09151	-1.081000	0.03105	-0.137000	0.14449	CGT		0.463	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		48	140	0	0	0	1	0	48	140				
ACACB	32	broad.mit.edu	37	12	109675039	109675039	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:109675039C>T	ENST00000338432.7	+	34	4635	c.4516C>T	c.(4516-4518)Cgt>Tgt	p.R1506C	ACACB_ENST00000543201.1_Missense_Mutation_p.R172C|ACACB_ENST00000377854.5_Missense_Mutation_p.R1436C|ACACB_ENST00000377848.3_Missense_Mutation_p.R1506C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1506					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TAACCGGATGCGTAACTTCGA	0.547																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(4516-4518)Cgt>Tgt		acetyl-CoA carboxylase beta	Biotin(DB00121)						172.0	140.0	151.0					12																	109675039		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109675039C>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.4516C>T	12.37:g.109675039C>T	ENSP00000341044:p.Arg1506Cys					ACACB_ENST00000543201.1_Missense_Mutation_p.R172C|ACACB_ENST00000377848.3_Missense_Mutation_p.R1506C|ACACB_ENST00000377854.5_Missense_Mutation_p.R1436C	p.R1506C			O00763	ACACB_HUMAN			34	4635	+			1506					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.4516C>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396262	0.83011	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.75	4.75	0.60458	Acetyl-CoA carboxylase, central domain (1);	0.047858	0.85682	D	0.000000	T	0.69342	0.3100	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.75249	-0.3384	10	0.72032	D	0.01	.	18.6363	0.91379	0.0:1.0:0.0:0.0	.	1506	O00763	ACACB_HUMAN	C	1506;1506;1436;737;172	ENSP00000341044:R1506C;ENSP00000367079:R1506C;ENSP00000367085:R1436C;ENSP00000444075:R172C	ENSP00000341044:R1506C	R	+	1	0	ACACB	108159422	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.919000	0.56439	2.586000	0.87340	0.555000	0.69702	CGT		0.547	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		64	110	0	0	0	1	0	64	110				
PCDHA1	56147	broad.mit.edu	37	5	140166205	140166205	+	Silent	SNP	C	C	T	rs537642817	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140166205C>T	ENST00000504120.2	+	1	330	c.330C>T	c.(328-330)gcC>gcT	p.A110A	PCDHA1_ENST00000394633.3_Silent_p.A110A|PCDHA1_ENST00000378133.3_Silent_p.A110A	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	110	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTGATCGCCGACAGGCCGC	0.498																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(328-330)gcC>gcT																																						SO:0001819	synonymous_variant	56147							g.chr5:140166205C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.330C>T	5.37:g.140166205C>T						PCDHA1_ENST00000378133.3_Silent_p.A110A|PCDHA1_ENST00000394633.3_Silent_p.A110A	p.A110A	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	330	+								O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.330C>T	CCDS54913.1																																																																																				0.498	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		44	147	0	0	0	1	0	44	147				
SLC9A7P1	121456	broad.mit.edu	37	12	98849370	98849370	+	RNA	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:98849370G>T	ENST00000554295.1	-	0	1553					NR_033801.1				solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1																		TGAAGAACACGATGAAAGGCG	0.522																																						ENST00000554295.1																			0																																																			121456							g.chr12:98849370G>T			12q23.1	2013-05-22	2012-03-22		ENSG00000227825	ENSG00000227825		"""Solute carriers"""	32679	pseudogene	pseudogene			"""solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1"""				Standard	NR_033801		Approved		uc009ztm.2		OTTHUMG00000170629		12.37:g.98849370G>T								NR_033801.1						0	1553	-									RNA	SNP	ENST00000554295.1	37																																																																																						0.522	SLC9A7P1-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000409869.1			3	26	1	0	0.115264	1	0.1157	3	26				
EPS15	2060	broad.mit.edu	37	1	51938592	51938592	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:51938592A>G	ENST00000371733.3	-	3	200	c.104T>C	c.(103-105)tTg>tCg	p.L35S	EPS15_ENST00000371730.2_Missense_Mutation_p.L35S	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	35	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ATCAGAAGCCAACACCCTTCC	0.373			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		1	Whole gene deletion(1)	p.0?(1)	central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(103-105)tTg>tCg		epidermal growth factor receptor pathway substrate 15							142.0	146.0	145.0					1																	51938592		2203	4300	6503	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51938592A>G	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.104T>C	1.37:g.51938592A>G	ENSP00000360798:p.Leu35Ser					EPS15_ENST00000371730.2_Missense_Mutation_p.L35S	p.L35S	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			3	200	-			35			EH 1.		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.104T>C	CCDS557.1	.	.	.	.	.	.	.	.	.	.	A	7.597	0.671880	0.14776	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000371727	T;T	0.26373	1.74;1.74	5.43	5.43	0.79202	EPS15 homology (EH) (2);EF-hand-like domain (1);	.	.	.	.	T	0.09949	0.0244	N	0.00890	-1.11	0.53688	D	0.999971	P;P	0.51933	0.801;0.949	B;P	0.46275	0.438;0.51	T	0.32025	-0.9922	9	0.06625	T	0.88	.	14.5946	0.68395	1.0:0.0:0.0:0.0	.	35;35	B1AUU8;P42566	.;EPS15_HUMAN	S	35	ENSP00000360795:L35S;ENSP00000360798:L35S	ENSP00000360792:L35S	L	-	2	0	EPS15	51711180	0.983000	0.35010	0.829000	0.32907	0.710000	0.40934	4.168000	0.58216	2.279000	0.76181	0.533000	0.62120	TTG		0.373	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		49	125	0	0	0	1	0	49	125				
CDH18	1016	broad.mit.edu	37	5	19571743	19571743	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:19571743T>C	ENST00000507958.1	-	10	2188	c.1198A>G	c.(1198-1200)Acc>Gcc	p.T400A	CDH18_ENST00000274170.4_Missense_Mutation_p.T400A|CDH18_ENST00000506372.1_Missense_Mutation_p.T400A|CDH18_ENST00000511273.1_Missense_Mutation_p.T400A|CDH18_ENST00000382275.1_Missense_Mutation_p.T400A|CDH18_ENST00000502796.1_Missense_Mutation_p.T400A			Q13634	CAD18_HUMAN	cadherin 18, type 2	400	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCAACGACGGTCCCAATCTTG	0.418																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1198-1200)Acc>Gcc		cadherin 18, type 2							160.0	132.0	142.0					5																	19571743		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19571743T>C	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1198A>G	5.37:g.19571743T>C	ENSP00000425093:p.Thr400Ala					CDH18_ENST00000506372.1_Missense_Mutation_p.T400A|CDH18_ENST00000511273.1_Missense_Mutation_p.T400A|CDH18_ENST00000502796.1_Missense_Mutation_p.T400A|CDH18_ENST00000274170.4_Missense_Mutation_p.T400A|CDH18_ENST00000382275.1_Missense_Mutation_p.T400A	p.T400A			Q13634	CAD18_HUMAN			10	2188	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		400			Cadherin 4.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1198A>G	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.220850	0.58560	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.17	5.17	0.71159	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.65523	0.2699	L	0.51422	1.61	0.54753	D	0.99998	D;B	0.71674	0.998;0.198	D;B	0.72075	0.976;0.247	T	0.64407	-0.6415	9	.	.	.	.	14.131	0.65253	0.0:0.0:0.0:1.0	.	400;400	B4DHG6;Q13634	.;CAD18_HUMAN	A	400;400;400;400;400;400;346;400	ENSP00000371710:T400A;ENSP00000425093:T400A;ENSP00000274170:T400A;ENSP00000424931:T400A;ENSP00000422138:T400A;ENSP00000427383:T346A;ENSP00000425854:T400A	.	T	-	1	0	CDH18	19607500	1.000000	0.71417	0.424000	0.26647	0.957000	0.61999	4.719000	0.61937	2.095000	0.63458	0.533000	0.62120	ACC		0.418	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		18	85	0	0	0	1	0	18	85				
LNX2	222484	broad.mit.edu	37	13	28155586	28155586	+	Silent	SNP	C	C	T	rs574936903	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:28155586C>T	ENST00000316334.3	-	2	384	c.255G>A	c.(253-255)ccG>ccA	p.P85P		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	85					protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		TCCGGTCCAACGGACAGAAAT	0.388													C|||	5	0.000998403	0.0	0.0	5008	,	,		20593	0.005		0.0	False		,,,				2504	0.0					ENST00000316334.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(253-255)ccG>ccA		ligand of numb-protein X 2							67.0	69.0	68.0					13																	28155586		2203	4300	6503	SO:0001819	synonymous_variant	222484						zinc ion binding	g.chr13:28155586C>T	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.255G>A	13.37:g.28155586C>T							p.P85P	NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	2	384	-		Lung SC(185;0.0156)	85					Q5W0P0|Q6ZMH2|Q96SH4	Silent	SNP	ENST00000316334.3	37	c.255G>A	CCDS9323.1																																																																																				0.388	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			14	44	0	0	0	1	0	14	44				
SLC35F4	341880	broad.mit.edu	37	14	58055944	58055944	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:58055944T>C	ENST00000339762.6	-	3	684	c.685A>G	c.(685-687)Aaa>Gaa	p.K229E	SLC35F4_ENST00000554729.1_Missense_Mutation_p.K70E|SLC35F4_ENST00000556826.1_Missense_Mutation_p.K193E			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	229					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGAATTTTTTCATTGGAGAT	0.328																																						ENST00000556826.1																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(577-579)Aaa>Gaa		solute carrier family 35, member F4							92.0	90.0	91.0					14																	58055944		1817	4090	5907	SO:0001583	missense	341880							g.chr14:58055944T>C			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.685A>G	14.37:g.58055944T>C	ENSP00000342518:p.Lys229Glu					SLC35F4_ENST00000339762.6_Missense_Mutation_p.K229E|SLC35F4_ENST00000554729.1_Missense_Mutation_p.K70E	p.K193E	NM_001206920.1	NP_001193849.1					3	813	-								A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37	c.577A>G		.	.	.	.	.	.	.	.	.	.	T	8.624	0.892179	0.17613	.	.	ENSG00000151812	ENST00000556826;ENST00000339762;ENST00000554729	T;T;T	0.42513	1.0;0.97;1.03	5.92	5.92	0.95590	.	0.045483	0.85682	D	0.000000	T	0.22742	0.0549	N	0.02539	-0.55	0.45035	D	0.998056	B	0.30526	0.283	B	0.40256	0.324	T	0.25950	-1.0117	10	0.08381	T	0.77	-17.6018	12.2382	0.54528	0.0:0.0:0.1418:0.8582	.	229	A4IF30	S35F4_HUMAN	E	193;229;70	ENSP00000452086:K193E;ENSP00000342518:K229E;ENSP00000451990:K70E	ENSP00000342518:K229E	K	-	1	0	SLC35F4	57125697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.019000	0.64060	2.266000	0.75297	0.455000	0.32223	AAA		0.328	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		16	83	0	0	0	1	0	16	83				
PLG	5340	broad.mit.edu	37	6	161134060	161134060	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:161134060C>T	ENST00000308192.9	+	5	513	c.450C>T	c.(448-450)aaC>aaT	p.N150N	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	150	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGGAGGAGAACTACTGCAGGA	0.473																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(448-450)aaC>aaT		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						132.0	131.0	131.0					6																	161134060		2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161134060C>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.450C>T	6.37:g.161134060C>T						PLG_ENST00000462918.1_3'UTR	p.N150N	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	5	513	+			150			Kringle 1.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.450C>T	CCDS5279.1																																																																																				0.473	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		34	146	0	0	0	1	0	34	146				
FSCN3	29999	broad.mit.edu	37	7	127236487	127236487	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:127236487A>G	ENST00000265825.5	+	3	1166	c.947A>G	c.(946-948)tAc>tGc	p.Y316C	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_Missense_Mutation_p.Y182C	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	316						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCCAATGGCTACTACCTATCC	0.507																																						ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(946-948)tAc>tGc		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)							216.0	190.0	199.0					7																	127236487		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127236487A>G		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.947A>G	7.37:g.127236487A>G	ENSP00000265825:p.Tyr316Cys					FSCN3_ENST00000420086.2_Missense_Mutation_p.Y182C	p.Y316C	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			3	1166	+			316					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.947A>G	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	A	9.622	1.134156	0.21123	.	.	ENSG00000106328	ENST00000265825;ENST00000420086	T;T	0.42513	1.57;0.97	5.55	-4.0	0.04057	Fascin domain (1);Actin cross-linking (1);	1.159990	0.06174	N	0.678225	T	0.18759	0.0450	N	0.04203	-0.255	0.27653	N	0.947317	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.003	T	0.21518	-1.0243	10	0.33141	T	0.24	-15.4062	6.7118	0.23282	0.5051:0.0:0.3793:0.1156	.	182;316	B4DU68;Q9NQT6	.;FSCN3_HUMAN	C	316;182	ENSP00000265825:Y316C;ENSP00000412243:Y182C	ENSP00000265825:Y316C	Y	+	2	0	FSCN3	127023723	0.461000	0.25783	0.955000	0.39395	0.531000	0.34715	-0.588000	0.05774	-0.669000	0.05289	0.533000	0.62120	TAC		0.507	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		4	201	0	0	0	1	0	4	201				
AXL	558	broad.mit.edu	37	19	41745209	41745209	+	Silent	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41745209C>A	ENST00000301178.4	+	9	1465	c.1275C>A	c.(1273-1275)gcC>gcA	p.A425A	AXL_ENST00000359092.3_Silent_p.A425A|AXL_ENST00000593513.1_Silent_p.A157A	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	425	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CCCTGGAGGCCTGGCGCCCAG	0.597																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(1273-1275)gcC>gcA		AXL receptor tyrosine kinase							97.0	89.0	92.0					19																	41745209		2203	4299	6502	SO:0001819	synonymous_variant	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41745209C>A	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1275C>A	19.37:g.41745209C>A						AXL_ENST00000359092.3_Silent_p.A425A|AXL_ENST00000593513.1_Silent_p.A157A	p.A425A	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			9	1465	+			425			Fibronectin type-III 2.		Q8N5L2|Q9UD27	Silent	SNP	ENST00000301178.4	37	c.1275C>A	CCDS12575.1																																																																																				0.597	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			24	94	1	0	1.55469e-16	1	1.63288e-16	24	94				
MPHOSPH9	10198	broad.mit.edu	37	12	123705975	123705975	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:123705975T>C	ENST00000606320.1	-	5	1022	c.816A>G	c.(814-816)gaA>gaG	p.E272E	MPHOSPH9_ENST00000302349.5_Silent_p.E120E|MPHOSPH9_ENST00000392425.3_Silent_p.E120E|MPHOSPH9_ENST00000541076.2_Silent_p.E242E|MPHOSPH9_ENST00000539639.1_5'Flank			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	272						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GAAAATTATGTTCAAATTCAC	0.313																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(814-816)gaA>gaG		M-phase phosphoprotein 9							47.0	51.0	50.0					12																	123705975		2202	4299	6501	SO:0001819	synonymous_variant	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123705975T>C	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.816A>G	12.37:g.123705975T>C						MPHOSPH9_ENST00000392425.3_Silent_p.E120E|MPHOSPH9_ENST00000541076.2_Silent_p.E242E|MPHOSPH9_ENST00000302349.5_Silent_p.E120E	p.E272E			Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	5	1022	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		120					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Silent	SNP	ENST00000606320.1	37	c.816A>G		.	.	.	.	.	.	.	.	.	.	T	9.162	1.019042	0.19355	.	.	ENSG00000257076	ENST00000539336	.	.	.	5.43	0.418	0.16429	.	.	.	.	.	T	0.50871	0.1641	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36383	-0.9750	4	.	.	.	-14.8589	5.1778	0.15145	0.0:0.3079:0.1478:0.5444	.	.	.	.	A	130	.	.	T	-	1	0	RP11-546D6.2	122271928	0.947000	0.32204	0.987000	0.45799	0.985000	0.73830	-0.035000	0.12205	0.043000	0.15746	0.374000	0.22700	ACA		0.313	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			9	81	0	0	0	1	0	9	81				
KIAA0100	9703	broad.mit.edu	37	17	26965397	26965397	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:26965397C>A	ENST00000528896.2	-	13	1459	c.1385G>T	c.(1384-1386)cGg>cTg	p.R462L	KIAA0100_ENST00000544884.1_Missense_Mutation_p.R319L|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R319L|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	462						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TAGGACGCCCCGCTGATGGAT	0.577																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(1384-1386)cGg>cTg		KIAA0100							65.0	62.0	63.0					17																	26965397		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26965397C>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1385G>T	17.37:g.26965397C>A	ENSP00000436773:p.Arg462Leu					KIAA0100_ENST00000389003.3_Missense_Mutation_p.R319L|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R319L	p.R462L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			13	1459	-	Lung NSC(42;0.00431)		462					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.1385G>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938522	0.92526	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.27557	1.7;1.66	5.83	5.83	0.93111	FMP27, N-terminal (2);	0.056653	0.64402	D	0.000002	T	0.45034	0.1322	L	0.29908	0.895	0.49798	D	0.999822	D	0.67145	0.996	D	0.64595	0.927	T	0.21518	-1.0243	10	0.46703	T	0.11	.	20.1374	0.98035	0.0:1.0:0.0:0.0	.	462	Q14667	K0100_HUMAN	L	462;462;462;319	ENSP00000436773:R462L;ENSP00000446443:R319L	ENSP00000005905:R462L	R	-	2	0	KIAA0100	23989524	1.000000	0.71417	0.972000	0.41901	0.947000	0.59692	5.676000	0.68131	2.763000	0.94921	0.563000	0.77884	CGG		0.577	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		5	72	1	0	0.0293803	1	0.0295309	5	72				
ZNF716	441234	broad.mit.edu	37	7	57528841	57528841	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:57528841C>T	ENST00000420713.1	+	4	786	c.674C>T	c.(673-675)tCt>tTt	p.S225F		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						TTTAACTGCTCTTCAACCCTT	0.378																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(673-675)tCt>tTt		zinc finger protein 716							43.0	38.0	40.0					7																	57528841		692	1591	2283	SO:0001583	missense	441234							g.chr7:57528841C>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.674C>T	7.37:g.57528841C>T	ENSP00000394248:p.Ser225Phe						p.S225F	NM_001159279.1	NP_001152751.1					4	786	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.674C>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	C	1.716	-0.497828	0.04291	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.02067	4.47	0.195	0.195	0.15151	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07234	0.0183	M	0.69185	2.1	0.09310	N	1	D	0.71674	0.998	D	0.80764	0.994	T	0.35822	-0.9773	9	0.18276	T	0.48	.	6.2336	0.20750	0.0:0.9997:0.0:3.0E-4	.	213	A6NP11	ZN716_HUMAN	F	225;213	ENSP00000394248:S225F	ENSP00000387687:S213F	S	+	2	0	ZNF716	57532783	0.000000	0.05858	0.018000	0.16275	0.018000	0.09664	-2.018000	0.01444	0.300000	0.22699	0.306000	0.20318	TCT		0.378	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		4	27	0	0	0	1	0	4	27				
TAS2R42	353164	broad.mit.edu	37	12	11338810	11338810	+	Missense_Mutation	SNP	A	A	G	rs543531807		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:11338810A>G	ENST00000334266.1	-	1	733	c.734T>C	c.(733-735)gTt>gCt	p.V245A		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	245					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			AAAAAAATGAACTATGAAGAG	0.408													A|||	1	0.000199681	0.0008	0.0	5008	,	,		18201	0.0		0.0	False		,,,				2504	0.0				Melanoma(15;352 722 10077 19546 48810)	ENST00000334266.1																			0				breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(733-735)gTt>gCt		taste receptor, type 2, member 42							85.0	83.0	84.0					12																	11338810		2203	4300	6503	SO:0001583	missense	353164				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11338810A>G	AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.734T>C	12.37:g.11338810A>G	ENSP00000334050:p.Val245Ala						p.V245A	NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0455)		1	733	-			245					A2RRP4|Q645X0	Missense_Mutation	SNP	ENST00000334266.1	37	c.734T>C	CCDS31747.1	.	.	.	.	.	.	.	.	.	.	A	2.338	-0.351856	0.05173	.	.	ENSG00000186136	ENST00000334266	T	0.41758	0.99	3.59	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.419709	0.20135	N	0.098506	T	0.35508	0.0934	L	0.45470	1.425	0.09310	N	1	B	0.21452	0.056	B	0.32090	0.14	T	0.21075	-1.0256	10	0.20046	T	0.44	.	8.7684	0.34717	1.0:0.0:0.0:0.0	.	245	Q7RTR8	T2R42_HUMAN	A	245	ENSP00000334050:V245A	ENSP00000334050:V245A	V	-	2	0	TAS2R42	11230077	0.002000	0.14202	0.003000	0.11579	0.022000	0.10575	1.725000	0.38074	1.665000	0.50811	0.528000	0.53228	GTT		0.408	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1	NM_181429		4	144	0	0	0	1	0	4	144				
PCDH12	51294	broad.mit.edu	37	5	141335448	141335448	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:141335448A>T	ENST00000231484.3	-	1	3179	c.1969T>A	c.(1969-1971)Ttc>Atc	p.F657I	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	657	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATTGACGAACAGCTGCCCC	0.572																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(1969-1971)Ttc>Atc		protocadherin 12							60.0	54.0	56.0					5																	141335448		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141335448A>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1969T>A	5.37:g.141335448A>T	ENSP00000231484:p.Phe657Ile						p.F657I	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3179	-		all_hematologic(541;0.0999)	657			Cadherin 6.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1969T>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.687433	0.29962	.	.	ENSG00000113555	ENST00000231484	T	0.52057	0.68	5.38	5.38	0.77491	Cadherin (4);Cadherin-like (1);	0.308652	0.35179	N	0.003396	T	0.54208	0.1844	L	0.43554	1.36	0.42677	D	0.993534	D	0.63880	0.993	P	0.59825	0.864	T	0.48151	-0.9060	10	0.22706	T	0.39	.	13.3968	0.60858	1.0:0.0:0.0:0.0	.	657	Q9NPG4	PCD12_HUMAN	I	657	ENSP00000231484:F657I	ENSP00000231484:F657I	F	-	1	0	PCDH12	141315632	0.984000	0.35163	0.859000	0.33776	0.007000	0.05969	9.139000	0.94554	2.261000	0.74972	0.533000	0.62120	TTC		0.572	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		12	45	0	0	0	1	0	12	45				
RGL2	5863	broad.mit.edu	37	6	33264477	33264477	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:33264477T>A	ENST00000497454.1	-	4	812	c.317A>T	c.(316-318)gAt>gTt	p.D106V	RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Missense_Mutation_p.D24V|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	106	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						TGTCCGGGTATCCAGTAGGTG	0.612																																						ENST00000497454.1																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(316-318)gAt>gTt		ral guanine nucleotide dissociation stimulator-like 2							60.0	59.0	60.0					6																	33264477		2203	4300	6503	SO:0001583	missense	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33264477T>A		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.317A>T	6.37:g.33264477T>A	ENSP00000420211:p.Asp106Val					RGL2_ENST00000444031.2_Missense_Mutation_p.D24V|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	p.D106V	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN			4	812	-			106			N-terminal Ras-GEF.		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	c.317A>T	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.498533	0.64298	.	.	ENSG00000237441	ENST00000497454;ENST00000444031;ENST00000425946	T;T;T	0.32272	1.46;1.46;1.46	4.22	4.22	0.49857	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.061973	0.64402	D	0.000007	T	0.30947	0.0781	L	0.42245	1.32	0.58432	D	0.999999	D;D	0.76494	0.976;0.999	P;D	0.72338	0.901;0.977	T	0.04191	-1.0970	10	0.35671	T	0.21	.	9.6462	0.39868	0.0:0.0:0.0:1.0	.	24;106	B4DG72;O15211	.;RGL2_HUMAN	V	106;24;106	ENSP00000420211:D106V;ENSP00000403070:D24V;ENSP00000392918:D106V	ENSP00000392918:D106V	D	-	2	0	RGL2	33372455	1.000000	0.71417	0.915000	0.36163	0.963000	0.63663	5.434000	0.66526	1.769000	0.52152	0.523000	0.50628	GAT		0.612	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			22	68	0	0	0	1	0	22	68				
TBCE	6905	broad.mit.edu	37	1	235600692	235600692	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:235600692T>C	ENST00000366601.3	+	12	1195	c.1019T>C	c.(1018-1020)cTa>cCa	p.L340P	TBCE_ENST00000543662.1_Missense_Mutation_p.L391P|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.L340P			Q15813	TBCE_HUMAN	tubulin folding cofactor E	340					'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TTGTCCTGCCTAAGAAACCCC	0.473																																						ENST00000543662.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14						c.(1171-1173)cTa>cCa		tubulin folding cofactor E							116.0	106.0	109.0					1																	235600692		2203	4300	6503	SO:0001583	missense	6905				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	g.chr1:235600692T>C	U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"""tubulin-specific chaperone e"", ""Kenny-Caffey syndrome"", ""hypoparathyroidism, growth and mental retardation, and dysmorphism"""	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.1019T>C	1.37:g.235600692T>C	ENSP00000355560:p.Leu340Pro					TBCE_ENST00000406207.1_Missense_Mutation_p.L340P|TBCE_ENST00000366601.3_Missense_Mutation_p.L340P|TBCE_ENST00000472011.1_3'UTR	p.L391P			Q15813	TBCE_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)		13	1278	+	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	340					A8K8C2|B7Z3P1	Missense_Mutation	SNP	ENST00000366601.3	37	c.1172T>C	CCDS1605.1	.	.	.	.	.	.	.	.	.	.	T	5.702	0.313984	0.10789	.	.	ENSG00000116957	ENST00000366601;ENST00000406207;ENST00000543662	T;T;T	0.29917	1.55;1.55;1.55	4.55	-0.302	0.12796	.	3.037360	0.00669	N	0.000635	T	0.27594	0.0678	M	0.63843	1.955	0.09310	N	1	P;P;B	0.37731	0.607;0.596;0.159	B;B;B	0.34180	0.177;0.127;0.112	T	0.11941	-1.0567	10	0.30078	T	0.28	3.2984	2.1525	0.03803	0.1334:0.384:0.2135:0.269	.	391;340;340	B7Z3P1;A8K8C2;Q15813	.;.;TBCE_HUMAN	P	340;340;391	ENSP00000355560:L340P;ENSP00000384571:L340P;ENSP00000439170:L391P	ENSP00000355560:L340P	L	+	2	0	TBCE	233667315	0.000000	0.05858	0.000000	0.03702	0.369000	0.29798	-0.171000	0.09883	0.058000	0.16222	0.533000	0.62120	CTA		0.473	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096458.3	NM_003193		25	87	0	0	0	1	0	25	87				
HNF4G	3174	broad.mit.edu	37	8	76452267	76452267	+	Intron	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:76452267T>G	ENST00000354370.1	+	3	247				HNF4G_ENST00000396423.2_Missense_Mutation_p.Y14D			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma						endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GGACCCAACTTACACAACTTT	0.348																																						ENST00000396423.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(40-42)Tac>Gac		hepatocyte nuclear factor 4, gamma							150.0	147.0	148.0					8																	76452267		1867	4104	5971	SO:0001627	intron_variant	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76452267T>G		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.-23-3779T>G	8.37:g.76452267T>G						HNF4G_ENST00000354370.1_Intron	p.Y14D	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		1	164	+	Breast(64;0.0448)		0					Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	ENST00000354370.1	37	c.40T>G		.	.	.	.	.	.	.	.	.	.	T	19.96	3.922857	0.73213	.	.	ENSG00000164749	ENST00000396423	D	0.93307	-3.2	4.71	4.71	0.59529	.	0.000000	0.64402	U	0.000004	D	0.95996	0.8696	M	0.72118	2.19	0.54753	D	0.999984	D	0.89917	1.0	D	0.79784	0.993	D	0.96282	0.9207	10	0.62326	D	0.03	.	14.6385	0.68706	0.0:0.0:0.0:1.0	.	14	F1D8Q4	.	D	14	ENSP00000379701:Y14D	ENSP00000379701:Y14D	Y	+	1	0	HNF4G	76614822	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	7.133000	0.77259	2.089000	0.63090	0.482000	0.46254	TAC		0.348	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2	NM_004133		46	146	0	0	0	1	0	46	146				
RAB37	326624	broad.mit.edu	37	17	72739307	72739307	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:72739307A>G	ENST00000392613.5	+	4	342	c.286A>G	c.(286-288)Acc>Gcc	p.T96A	RAB37_ENST00000392612.3_Missense_Mutation_p.T59A|RAB37_ENST00000392610.1_Missense_Mutation_p.T96A|RAB37_ENST00000528438.1_Missense_Mutation_p.T69A|RAB37_ENST00000340415.3_Missense_Mutation_p.T89A|RAB37_ENST00000392614.4_Missense_Mutation_p.T101A|RAB37_ENST00000402449.4_Missense_Mutation_p.T89A|RAB37_ENST00000392615.5_Missense_Mutation_p.T64A	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	96					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						CCGAAGCGTCACCCATGCTTA	0.592																																						ENST00000340415.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						c.(265-267)Acc>Gcc		RAB37, member RAS oncogene family							168.0	152.0	157.0					17																	72739307		2203	4300	6503	SO:0001583	missense	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72739307A>G	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.286A>G	17.37:g.72739307A>G	ENSP00000376389:p.Thr96Ala					RAB37_ENST00000392613.5_Missense_Mutation_p.T96A|RAB37_ENST00000392615.5_Missense_Mutation_p.T64A|RAB37_ENST00000392614.4_Missense_Mutation_p.T101A|RAB37_ENST00000392610.1_Missense_Mutation_p.T96A|RAB37_ENST00000528438.1_Missense_Mutation_p.T69A|RAB37_ENST00000392612.3_Missense_Mutation_p.T59A|RAB37_ENST00000402449.4_Missense_Mutation_p.T89A	p.T89A	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN			4	1274	+			96					A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	c.265A>G	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724884	0.89298	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000392617;ENST00000528438;ENST00000392615;ENST00000392614;ENST00000392613;ENST00000533530;ENST00000392612;ENST00000392610	T;T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.06	5.06	0.68205	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.82637	0.5080	L	0.31804	0.96	0.80722	D	1	D;D;D;D;D;D;D	0.61697	0.986;0.984;0.99;0.987;0.986;0.97;0.98	D;D;P;P;P;P;P	0.63703	0.915;0.917;0.815;0.719;0.87;0.815;0.79	D	0.85010	0.0905	10	0.87932	D	0	.	13.8205	0.63318	1.0:0.0:0.0:0.0	.	59;64;101;89;96;89;89	A8MXF5;A8MZI4;A8MYT0;Q96AX2-2;Q96AX2;A8MSP2;A8MUU7	.;.;.;.;RAB37_HUMAN;.;.	A	89;89;89;89;69;64;101;96;96;59;96	ENSP00000341354:T89A;ENSP00000383934:T89A;ENSP00000432086:T69A;ENSP00000376391:T64A;ENSP00000376390:T101A;ENSP00000376389:T96A;ENSP00000376388:T59A;ENSP00000376387:T96A	ENSP00000341354:T89A	T	+	1	0	RAB37	70250902	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.585000	0.90802	1.911000	0.55334	0.528000	0.53228	ACC		0.592	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		49	141	0	0	0	1	0	49	141				
FOCAD	54914	broad.mit.edu	37	9	20951005	20951005	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:20951005T>C	ENST00000380249.1	+	36	4323	c.3959T>C	c.(3958-3960)gTc>gCc	p.V1320A	FOCAD_ENST00000605086.1_Missense_Mutation_p.V756A|FOCAD_ENST00000338382.6_Missense_Mutation_p.V1320A	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1320						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GTCATTAGTGTCTCTGGGGTG	0.398																																						ENST00000380249.1																			0											c.(3958-3960)gTc>gCc		focadhesin							212.0	197.0	202.0					9																	20951005		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20951005T>C	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3959T>C	9.37:g.20951005T>C	ENSP00000369599:p.Val1320Ala					FOCAD_ENST00000605086.1_Missense_Mutation_p.V756A|FOCAD_ENST00000338382.6_Missense_Mutation_p.V1320A	p.V1320A	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			36	4323	+			1320					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.3959T>C	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	T	10.21	1.286392	0.23478	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.67698	-0.28;-0.28	5.87	4.73	0.59995	Armadillo-type fold (1);	0.371283	0.29908	N	0.010882	T	0.55893	0.1949	L	0.44542	1.39	0.26247	N	0.978771	B	0.23650	0.089	B	0.25506	0.061	T	0.41980	-0.9478	10	0.16420	T	0.52	-20.0616	10.9633	0.47397	0.0:0.074:0.0:0.9259	.	1320	Q5VW36	K1797_HUMAN	A	1320	ENSP00000369599:V1320A;ENSP00000344307:V1320A	ENSP00000344307:V1320A	V	+	2	0	KIAA1797	20941005	1.000000	0.71417	0.998000	0.56505	0.486000	0.33341	6.056000	0.71111	1.052000	0.40392	-0.256000	0.11100	GTC		0.398	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		35	122	0	0	0	1	0	35	122				
HRASLS2	54979	broad.mit.edu	37	11	63326018	63326018	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:63326018T>C	ENST00000255695.1	-	3	291	c.233A>G	c.(232-234)aAc>aGc	p.N78S		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	78					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						ATCGTGCTTGTTATTGACCCT	0.547																																						ENST00000255695.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(232-234)aAc>aGc		HRAS-like suppressor 2							295.0	221.0	246.0					11																	63326018		2201	4298	6499	SO:0001583	missense	54979				lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity	g.chr11:63326018T>C		CCDS8046.1	11q12.2	2008-07-18			ENSG00000133328	ENSG00000133328			17824	protein-coding gene	gene with protein product		613866					Standard	NM_017878		Approved	FLJ20556	uc001nxg.1	Q9NWW9	OTTHUMG00000167851	ENST00000255695.1:c.233A>G	11.37:g.63326018T>C	ENSP00000255695:p.Asn78Ser						p.N78S	NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN			3	291	-			78					B9A7L8	Missense_Mutation	SNP	ENST00000255695.1	37	c.233A>G	CCDS8046.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.679691	0.47886	.	.	ENSG00000133328	ENST00000255695	T	0.22539	1.95	4.28	4.28	0.50868	NC (1);	0.000000	0.64402	D	0.000001	T	0.44030	0.1274	M	0.75777	2.31	0.42188	D	0.991711	D	0.89917	1.0	D	0.87578	0.998	T	0.38672	-0.9650	10	0.45353	T	0.12	-26.1321	11.6641	0.51364	0.0:0.0:0.0:1.0	.	78	Q9NWW9	HRSL2_HUMAN	S	78	ENSP00000255695:N78S	ENSP00000255695:N78S	N	-	2	0	HRASLS2	63082594	1.000000	0.71417	0.993000	0.49108	0.037000	0.13140	6.683000	0.74533	1.916000	0.55485	0.460000	0.39030	AAC		0.547	HRASLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396631.1	NM_017878		20	153	0	0	0	1	0	20	153				
SIPA1L2	57568	broad.mit.edu	37	1	232649899	232649899	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:232649899T>A	ENST00000366630.1	-	2	1545	c.1187A>T	c.(1186-1188)gAt>gTt	p.D396V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D396V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	396					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATCACCCTCATCGGCATCCAG	0.552																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(1186-1188)gAt>gTt		signal-induced proliferation-associated 1 like 2							168.0	161.0	163.0					1																	232649899		1971	4146	6117	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232649899T>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1187A>T	1.37:g.232649899T>A	ENSP00000355589:p.Asp396Val					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D396V	p.D396V			Q9P2F8	SI1L2_HUMAN			2	1545	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	396					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.1187A>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.626460	0.66901	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.87650	-2.28;-2.28	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.92770	0.7701	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93548	0.6884	10	0.87932	D	0	-31.8717	15.5813	0.76445	0.0:0.0:0.0:1.0	.	396	Q9P2F8	SI1L2_HUMAN	V	396	ENSP00000355589:D396V;ENSP00000262861:D396V	ENSP00000262861:D396V	D	-	2	0	SIPA1L2	230716522	1.000000	0.71417	0.384000	0.26145	0.795000	0.44927	7.868000	0.87116	2.267000	0.75376	0.528000	0.53228	GAT		0.552	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		67	235	0	0	0	1	0	67	235				
SLC22A11	55867	broad.mit.edu	37	11	64331799	64331799	+	Missense_Mutation	SNP	C	C	T	rs142048527		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:64331799C>T	ENST00000301891.4	+	5	1215	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.R281W|SLC22A11_ENST00000377581.3_Missense_Mutation_p.R281W	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	281					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	AGAATCCGCCCGGTGGCTGAT	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		18219	0.0		0.001	False		,,,				2504	0.0					ENST00000301891.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(841-843)Cgg>Tgg		solute carrier family 22 (organic anion/urate transporter), member 11	Probenecid(DB01032)						65.0	59.0	61.0					11																	64331799		2201	4297	6498	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64331799C>T	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.841C>T	11.37:g.64331799C>T	ENSP00000301891:p.Arg281Trp					SLC22A11_ENST00000377581.3_Missense_Mutation_p.R281W|SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.R281W	p.R281W	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN			5	1215	+			281					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.841C>T	CCDS8074.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	18.05	3.536098	0.64972	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.79653	-1.29;-1.29;-1.29	4.42	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.208450	0.39083	N	0.001473	D	0.92325	0.7565	H	0.95043	3.615	0.35225	D	0.776385	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.998;0.996	D	0.96676	0.9500	10	0.87932	D	0	.	14.6129	0.68529	0.0:1.0:0.0:0.0	.	281;75;281;281	Q9NSA0-2;Q8NBZ3;A6NCG2;Q9NSA0	.;.;.;S22AB_HUMAN	W	281	ENSP00000301891:R281W;ENSP00000366809:R281W;ENSP00000366804:R281W	ENSP00000301891:R281W	R	+	1	2	SLC22A11	64088375	0.522000	0.26266	0.041000	0.18516	0.115000	0.19883	1.023000	0.30065	2.304000	0.77564	0.650000	0.86243	CGG		0.602	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		19	65	0	0	0	1	0	19	65				
EPC2	26122	broad.mit.edu	37	2	149511679	149511679	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:149511679A>G	ENST00000258484.6	+	4	677	c.643A>G	c.(643-645)Aca>Gca	p.T215A		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	215					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TCGGAGAAGAACAGAGAAAAT	0.368																																						ENST00000258484.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(643-645)Aca>Gca		enhancer of polycomb homolog 2 (Drosophila)							34.0	32.0	33.0					2																	149511679		1854	4091	5945	SO:0001583	missense	26122				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:149511679A>G	AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.643A>G	2.37:g.149511679A>G	ENSP00000258484:p.Thr215Ala						p.T215A	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0516)	4	677	+			215					B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	c.643A>G	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.500273	0.85176	.	.	ENSG00000135999	ENST00000258484;ENST00000397424	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.76997	0.4066	M	0.68728	2.09	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.78610	-0.2137	9	0.56958	D	0.05	-4.42	15.7963	0.78412	1.0:0.0:0.0:0.0	.	215	Q52LR7	EPC2_HUMAN	A	215;144	.	ENSP00000258484:T215A	T	+	1	0	EPC2	149228149	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.137000	0.66172	0.460000	0.39030	ACA		0.368	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		5	13	0	0	0	1	0	5	13				
FAM217B	63939	broad.mit.edu	37	20	58519670	58519670	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:58519670T>C	ENST00000358293.3	+	5	1087	c.672T>C	c.(670-672)agT>agC	p.S224S	FAM217B_ENST00000360816.3_Silent_p.S224S|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	224																	CTGGGAGAAGTAAGCTAATTG	0.537																																						ENST00000358293.3																			0											c.(670-672)agT>agC		family with sequence similarity 217, member B							41.0	47.0	45.0					20																	58519670		2203	4300	6503	SO:0001819	synonymous_variant	63939							g.chr20:58519670T>C	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.672T>C	20.37:g.58519670T>C						FAM217B_ENST00000469084.1_3'UTR|FAM217B_ENST00000360816.3_Silent_p.S224S	p.S224S	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN			5	1087	+			224					B3KWH1|Q9NTA3	Silent	SNP	ENST00000358293.3	37	c.672T>C	CCDS13484.1																																																																																				0.537	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		24	71	0	0	0	1	0	24	71				
GPNMB	10457	broad.mit.edu	37	7	23299746	23299746	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:23299746A>G	ENST00000381990.2	+	5	850	c.689A>G	c.(688-690)tAc>tGc	p.Y230C	GPNMB_ENST00000258733.4_Missense_Mutation_p.Y230C|GPNMB_ENST00000453162.2_Missense_Mutation_p.Y172C|GPNMB_ENST00000539136.1_Missense_Mutation_p.Y131C	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	230					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.Y230F(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			AAAGATGTGTACGTGGTAACA	0.478																																						ENST00000258733.4																			1	Substitution - Missense(1)	p.Y230F(1)	lung(1)	breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(688-690)tAc>tGc		glycoprotein (transmembrane) nmb							149.0	137.0	141.0					7																	23299746		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23299746A>G	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.689A>G	7.37:g.23299746A>G	ENSP00000371420:p.Tyr230Cys					GPNMB_ENST00000453162.2_Missense_Mutation_p.Y172C|GPNMB_ENST00000381990.2_Missense_Mutation_p.Y230C|GPNMB_ENST00000539136.1_Missense_Mutation_p.Y131C	p.Y230C			Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		5	984	+			230					A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.689A>G	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.938807	0.73557	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000004	T	0.38108	0.1028	M	0.76574	2.34	0.58432	D	0.999994	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	T	0.11203	-1.0597	9	.	.	.	-24.1761	15.4598	0.75346	1.0:0.0:0.0:0.0	.	131;172;230;230	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	C	230;265;230;113;131;172	ENSP00000258733:Y230C;ENSP00000371420:Y230C;ENSP00000445266:Y131C;ENSP00000405586:Y172C	.	Y	+	2	0	GPNMB	23266271	0.980000	0.34600	0.962000	0.40283	0.981000	0.71138	2.592000	0.46171	2.234000	0.73211	0.533000	0.62120	TAC		0.478	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		27	88	0	0	0	1	0	27	88				
PLD1	5337	broad.mit.edu	37	3	171406539	171406539	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:171406539T>C	ENST00000351298.4	-	14	1592	c.1466A>G	c.(1465-1467)gAc>gGc	p.D489G	PLD1_ENST00000340989.4_Missense_Mutation_p.D489G|PLD1_ENST00000342215.6_Missense_Mutation_p.D489G|PLD1_ENST00000356327.5_Missense_Mutation_p.D489G	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	489	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTGCTCATTGTCGTCCCACCT	0.512																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(1465-1467)gAc>gGc		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						130.0	110.0	117.0					3																	171406539		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171406539T>C	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1466A>G	3.37:g.171406539T>C	ENSP00000342793:p.Asp489Gly					PLD1_ENST00000351298.4_Missense_Mutation_p.D489G|PLD1_ENST00000342215.6_Missense_Mutation_p.D489G|PLD1_ENST00000340989.4_Missense_Mutation_p.D489G	p.D489G	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		14	1536	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		489			Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.1466A>G	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224068	0.79576	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	T;T;T;T	0.33654	3.28;3.28;1.4;3.14	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	L	0.61036	1.89	0.80722	D	1	D;D	0.71674	0.998;0.991	D;P	0.68943	0.961;0.908	T	0.53774	-0.8391	10	0.37606	T	0.19	-27.8895	15.5395	0.76031	0.0:0.0:0.0:1.0	.	512;489	Q59EA4;Q13393	.;PLD1_HUMAN	G	489	ENSP00000348681:D489G;ENSP00000342793:D489G;ENSP00000339936:D489G;ENSP00000340326:D489G	ENSP00000340326:D489G	D	-	2	0	PLD1	172889233	1.000000	0.71417	0.967000	0.41034	0.429000	0.31625	7.972000	0.88022	2.129000	0.65627	0.533000	0.62120	GAC		0.512	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		32	92	0	0	0	1	0	32	92				
ZNF616	90317	broad.mit.edu	37	19	52618702	52618702	+	Missense_Mutation	SNP	C	C	T	rs150574210		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:52618702C>T	ENST00000600228.1	-	4	1976	c.1715G>A	c.(1714-1716)aGt>aAt	p.S572N	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	572					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTTCTCTCCACTATGAATTCT	0.428																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1714-1716)aGt>aAt		zinc finger protein 616																																				SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618702C>T	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1715G>A	19.37:g.52618702C>T	ENSP00000471000:p.Ser572Asn					ZNF616_ENST00000330123.5_3'UTR	p.S572N	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1976	-			572					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.1715G>A	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958342	0.34565	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-0.257	0.12979	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39784	0.1091	L	0.45285	1.41	0.22719	N	0.998813	B	0.23128	0.08	B	0.29077	0.098	T	0.43065	-0.9414	8	0.62326	D	0.03	.	8.869	0.35305	0.0:0.3179:0.6821:0.0	.	572	Q08AN1	ZN616_HUMAN	N	572	.	ENSP00000328722:S572N	S	-	2	0	ZNF616	57310514	0.000000	0.05858	0.074000	0.20217	0.371000	0.29859	-0.454000	0.06770	-0.017000	0.14103	0.305000	0.20034	AGT		0.428	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		18	40	0	0	0	1	0	18	40				
APBB1	322	broad.mit.edu	37	11	6414558	6414558	+	IGR	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:6414558G>A	ENST00000609360.1	-	0	2642				SMPD1_ENST00000356761.2_Intron|SMPD1_ENST00000527275.1_Missense_Mutation_p.A401T|APBB1_ENST00000526240.1_5'Flank|SMPD1_ENST00000299397.3_Intron|SMPD1_ENST00000342245.4_Missense_Mutation_p.A402T	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CACGGATCCCGCAGGACAGCT	0.562																																					GBM(147;1810 2556 5672 39622)	ENST00000342245.4																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23						c.(1204-1206)Gca>Aca		sphingomyelin phosphodiesterase 1, acid lysosomal	Desipramine(DB01151)						59.0	61.0	61.0					11																	6414558		1888	4117	6005	SO:0001628	intergenic_variant	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6414558G>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213			11.37:g.6414558G>A						SMPD1_ENST00000527275.1_Missense_Mutation_p.A401T|SMPD1_ENST00000356761.2_Intron|SMPD1_ENST00000299397.3_Intron	p.A402T	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	3	1372	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	400					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1204G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.249340	0.95305	.	.	ENSG00000166311	ENST00000342245;ENST00000527275	D;D	0.96041	-3.89;-3.89	5.09	5.09	0.68999	Metallophosphoesterase domain (1);	0.065715	0.64402	N	0.000014	D	0.97334	0.9128	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.939	D	0.96128	0.9090	10	0.25106	T	0.35	-35.1007	17.2338	0.86992	0.0:0.0:1.0:0.0	.	401;400	E9PKS3;P17405	.;ASM_HUMAN	T	402;401	ENSP00000340409:A402T;ENSP00000435350:A401T	ENSP00000340409:A402T	A	+	1	0	SMPD1	6371134	1.000000	0.71417	0.975000	0.42487	0.981000	0.71138	9.222000	0.95196	2.667000	0.90743	0.561000	0.74099	GCA		0.562	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		12	35	0	0	0	1	0	12	35				
ASPN	54829	broad.mit.edu	37	9	95237107	95237107	+	Missense_Mutation	SNP	C	C	T	rs146516859		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:95237107C>T	ENST00000375544.3	-	2	316	c.73G>A	c.(73-75)Gca>Aca	p.A25T	ASPN_ENST00000375543.1_Missense_Mutation_p.A25T|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000450139.2_5'UTR|ASPN_ENST00000395538.3_Missense_Mutation_p.A25T	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	25					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TTCTTCAGTGCGATGTGTGAA	0.423																																						ENST00000375544.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(73-75)Gca>Aca		asporin		C	,THR/ALA,THR/ALA	0,4406		0,0,2203	79.0	82.0	81.0		,73,73	0.0	0.0	9	dbSNP_134	81	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense,missense	ASPN,CENPP	NM_001012267.1,NM_001193335.1,NM_017680.4	,58,58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,benign,benign	,25/244,25/381	95237107	2,13004	2203	4300	6503	SO:0001583	missense	54829				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	g.chr9:95237107C>T	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.73G>A	9.37:g.95237107C>T	ENSP00000364694:p.Ala25Thr					ASPN_ENST00000395538.3_Missense_Mutation_p.A25T|ASPN_ENST00000375543.1_Missense_Mutation_p.A25T|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000450139.2_5'UTR	p.A25T	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN			2	316	-			25					Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP	ENST00000375544.3	37	c.73G>A		.	.	.	.	.	.	.	.	.	.	C	1.547	-0.540323	0.04053	0.0	2.33E-4	ENSG00000106819	ENST00000375544;ENST00000375543;ENST00000395538	T;T;T	0.53640	0.61;0.69;0.62	5.12	8.5E-4	0.14044	.	0.599517	0.17891	N	0.158526	T	0.25827	0.0629	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.10154	-1.0642	10	0.36615	T	0.2	.	4.4306	0.11525	0.1404:0.3209:0.0:0.5387	.	25;25	Q5TBF2;Q9BXN1	.;ASPN_HUMAN	T	25	ENSP00000364694:A25T;ENSP00000364693:A25T;ENSP00000378909:A25T	ENSP00000364693:A25T	A	-	1	0	ASPN	94276928	0.050000	0.20438	0.000000	0.03702	0.002000	0.02628	1.071000	0.30666	-0.167000	0.10871	-0.302000	0.09304	GCA		0.423	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		10	36	0	0	0	1	0	10	36				
MUC16	94025	broad.mit.edu	37	19	9011372	9011372	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:9011372A>T	ENST00000397910.4	-	36	39064	c.38861T>A	c.(38860-38862)aTc>aAc	p.I12954N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12956	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGCTCTTTGATGCCATGGGT	0.552																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(38860-38862)aTc>aAc		mucin 16, cell surface associated							228.0	199.0	208.0					19																	9011372		1974	4162	6136	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9011372A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38861T>A	19.37:g.9011372A>T	ENSP00000381008:p.Ile12954Asn						p.I12954N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			36	39064	-			12956			SEA 6.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38861T>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	6.726	0.502623	0.12822	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.45668	0.89	2.76	2.76	0.32466	.	.	.	.	.	T	0.56790	0.2009	M	0.78801	2.425	.	.	.	D	0.58268	0.982	P	0.59889	0.865	T	0.68232	-0.5463	8	0.87932	D	0	-18.055	7.6379	0.28277	1.0:0.0:0.0:0.0	.	12954	B5ME49	.	N	12954;107	ENSP00000381008:I12954N	ENSP00000381008:I12954N	I	-	2	0	MUC16	8872372	0.939000	0.31865	0.068000	0.19968	0.155000	0.21991	2.612000	0.46343	1.209000	0.43321	0.254000	0.18369	ATC		0.552	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		108	275	0	0	0	1	0	108	275				
HARS	3035	broad.mit.edu	37	5	140054660	140054660	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140054660T>C	ENST00000504156.1	-	11	1972	c.1253A>G	c.(1252-1254)aAg>aGg	p.K418R	HARS_ENST00000307633.3_Missense_Mutation_p.K358R|HARS_ENST00000431330.2_Missense_Mutation_p.K304R|HARS_ENST00000438307.2_Missense_Mutation_p.K378R|HARS_ENST00000448240.1_Missense_Mutation_p.K223R|DND1_ENST00000542735.1_5'Flank|HARS_ENST00000457527.2_Missense_Mutation_p.K398R|HARS_ENST00000415192.2_Missense_Mutation_p.K344R|HARS_ENST00000504366.1_Missense_Mutation_p.K349R	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	418					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TAGCAGCTTCTTCTGTGCAGA	0.537																																						ENST00000504366.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1045-1047)aAg>aGg		histidyl-tRNA synthetase	L-Histidine(DB00117)						142.0	131.0	135.0					5																	140054660		2203	4300	6503	SO:0001583	missense	3035				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	g.chr5:140054660T>C	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.1253A>G	5.37:g.140054660T>C	ENSP00000425634:p.Lys418Arg					HARS_ENST00000448240.1_Missense_Mutation_p.K223R|HARS_ENST00000415192.2_Missense_Mutation_p.K344R|HARS_ENST00000307633.3_Missense_Mutation_p.K358R|HARS_ENST00000457527.2_Missense_Mutation_p.K398R|HARS_ENST00000431330.2_Missense_Mutation_p.K304R|HARS_ENST00000504156.1_Missense_Mutation_p.K418R|HARS_ENST00000438307.2_Missense_Mutation_p.K378R	p.K349R			P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	2865	-			418					B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	37	c.1046A>G	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	T	33	5.278317	0.95459	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000504366;ENST00000307633;ENST00000448240;ENST00000438307;ENST00000415192	D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.43	5.43	0.79202	Anticodon-binding (3);	0.000000	0.85682	D	0.000000	D	0.87489	0.6190	L	0.59912	1.85	0.80722	D	1	B;P;P;P;P;P	0.41848	0.128;0.536;0.763;0.763;0.763;0.632	B;B;P;P;P;P	0.55011	0.179;0.414;0.656;0.656;0.656;0.766	D	0.86203	0.1620	10	0.36615	T	0.2	-1.5069	15.7766	0.78224	0.0:0.0:0.0:1.0	.	304;344;358;378;398;418	B4E1C5;B4DDD8;B4DHQ1;B4DY73;D6REN6;P12081	.;.;.;.;.;SYHC_HUMAN	R	418;398;304;349;358;223;378;344	ENSP00000425634:K418R;ENSP00000387893:K398R;ENSP00000393244:K304R;ENSP00000430063:K349R;ENSP00000304668:K358R;ENSP00000413605:K223R;ENSP00000411511:K378R;ENSP00000411085:K344R	ENSP00000304668:K358R	K	-	2	0	HARS	140034844	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.198000	0.70561	0.533000	0.62120	AAG		0.537	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109		31	89	0	0	0	1	0	31	89				
GAB1	2549	broad.mit.edu	37	4	144354770	144354770	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:144354770T>C	ENST00000262994.4	+	3	796	c.494T>C	c.(493-495)aTc>aCc	p.I165T	GAB1_ENST00000262995.4_Missense_Mutation_p.I165T|GAB1_ENST00000505913.1_Missense_Mutation_p.I62T	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	165					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TATCAGCTAATCAATGTTCCA	0.478																																						ENST00000262995.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30						c.(493-495)aTc>aCc		GRB2-associated binding protein 1							144.0	130.0	134.0					4																	144354770		2203	4300	6503	SO:0001583	missense	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144354770T>C	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.494T>C	4.37:g.144354770T>C	ENSP00000262994:p.Ile165Thr					GAB1_ENST00000505913.1_Missense_Mutation_p.I62T|GAB1_ENST00000262994.4_Missense_Mutation_p.I165T	p.I165T	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN			3	921	+	all_hematologic(180;0.158)		165					A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	c.494T>C	CCDS3759.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.04|16.04	3.009253|3.009253	0.54361|0.54361	.|.	.|.	ENSG00000109458|ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000514639;ENST00000505913;ENST00000509992|ENST00000512843	T;T;T;T;T|.	0.30448|.	2.8;2.8;1.53;2.28;1.58|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.050309|.	0.85682|.	D|.	0.000000|.	T|T	0.62380|0.62380	0.2423|0.2423	L|L	0.44542|0.44542	1.39|1.39	0.58432|0.58432	D|D	0.999992|0.999992	P;D|.	0.58268|.	0.835;0.982|.	B;P|.	0.52598|.	0.275;0.703|.	T|T	0.58668|0.58668	-0.7596|-0.7596	10|5	0.06757|.	T|.	0.87|.	-16.6108|-16.6108	16.3483|16.3483	0.83171|0.83171	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	165;165|.	Q13480;Q13480-2|.	GAB1_HUMAN;.|.	T|P	165;165;165;62;144|43	ENSP00000262995:I165T;ENSP00000262994:I165T;ENSP00000427435:I165T;ENSP00000424554:I62T;ENSP00000425921:I144T|.	ENSP00000262994:I165T|.	I|S	+|+	2|1	0|0	GAB1|GAB1	144574220|144574220	1.000000|1.000000	0.71417|0.71417	0.282000|0.282000	0.24776|0.24776	0.057000|0.057000	0.15508|0.15508	6.869000|6.869000	0.75521|0.75521	2.254000|2.254000	0.74563|0.74563	0.533000|0.533000	0.62120|0.62120	ATC|TCA		0.478	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039		5	117	0	0	0	1	0	5	117				
KIF21A	55605	broad.mit.edu	37	12	39760881	39760881	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:39760881A>G	ENST00000361418.5	-	5	701	c.686T>C	c.(685-687)aTt>aCt	p.I229T	KIF21A_ENST00000541463.2_Missense_Mutation_p.I229T|KIF21A_ENST00000395670.3_Missense_Mutation_p.I229T|KIF21A_ENST00000544797.2_Missense_Mutation_p.I229T|KIF21A_ENST00000361961.3_Missense_Mutation_p.I229T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	229	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AATGGTAAAAATGGCATGTGA	0.393																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(685-687)aTt>aCt		kinesin family member 21A							140.0	126.0	130.0					12																	39760881		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39760881A>G	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.686T>C	12.37:g.39760881A>G	ENSP00000354878:p.Ile229Thr					KIF21A_ENST00000361418.5_Missense_Mutation_p.I229T|KIF21A_ENST00000541463.2_Missense_Mutation_p.I229T|KIF21A_ENST00000544797.2_Missense_Mutation_p.I229T|KIF21A_ENST00000361961.3_Missense_Mutation_p.I229T	p.I229T			Q7Z4S6	KI21A_HUMAN			5	1105	-		Lung NSC(34;0.179)|all_lung(34;0.213)	229			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.686T>C	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451701	0.84209	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	T;T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42;-1.42	5.33	5.33	0.75918	Kinesin, motor domain (5);	0.000000	0.53938	D	0.000046	D	0.92140	0.7508	M	0.93283	3.4	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.999;0.987;0.995;1.0;1.0	D;D;D;D;D	0.91635	0.993;0.979;0.946;0.999;0.988	D	0.94139	0.7395	10	0.87932	D	0	.	15.312	0.74042	1.0:0.0:0.0:0.0	.	229;229;229;229;229	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	T	229;229;229;229;229;229;52	ENSP00000354851:I229T;ENSP00000379029:I229T;ENSP00000445606:I229T;ENSP00000354878:I229T;ENSP00000438075:I229T;ENSP00000449700:I52T	ENSP00000344501:I229T	I	-	2	0	KIF21A	38047148	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.771000	0.91751	2.022000	0.59522	0.533000	0.62120	ATT		0.393	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		19	102	0	0	0	1	0	19	102				
PITPNM3	83394	broad.mit.edu	37	17	6361008	6361008	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:6361008G>A	ENST00000262483.8	-	19	2612	c.2525C>T	c.(2524-2526)aCg>aTg	p.T842M	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.T806M	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	842					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GATGTCCTTCGTGGAGCCATA	0.602																																						ENST00000262483.8																			0											c.(2524-2526)aCg>aTg									43.0	38.0	39.0					17																	6361008		2203	4299	6502	SO:0001583	missense	83394							g.chr17:6361008G>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2525C>T	17.37:g.6361008G>A	ENSP00000262483:p.Thr842Met					ACKR6_ENST00000421306.3_Missense_Mutation_p.T806M|ACKR6_ENST00000576664.1_5'UTR	p.T842M	NM_031220.3	NP_112497.2					19	2612	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.2525C>T	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	5.078	0.199956	0.09652	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.77489	-1.1;-1.1	4.45	3.22	0.36961	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.052760	0.64402	D	0.000001	T	0.59432	0.2193	L	0.34521	1.04	0.27810	N	0.942187	B;B	0.31655	0.334;0.167	B;B	0.23018	0.043;0.036	T	0.52540	-0.8562	10	0.40728	T	0.16	.	4.6053	0.12374	0.2877:0.0:0.7123:0.0	.	806;842	F8WEW5;Q9BZ71	.;PITM3_HUMAN	M	842;806	ENSP00000262483:T842M;ENSP00000407882:T806M	ENSP00000262483:T842M	T	-	2	0	PITPNM3	6301732	0.206000	0.23470	0.919000	0.36401	0.041000	0.13682	0.754000	0.26390	2.208000	0.71279	0.313000	0.20887	ACG		0.602	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		3	16	0	0	0	1	0	3	16				
MUC5B	727897	broad.mit.edu	37	11	1272562	1272562	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1272562A>T	ENST00000529681.1	+	31	14510	c.14452A>T	c.(14452-14454)Atc>Ttc	p.I4818F	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.I4821F	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4818	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACGACCCGGATCCTCACTGA	0.627																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(14461-14463)Atc>Ttc		mucin 5B, oligomeric mucus/gel-forming							120.0	150.0	140.0					11																	1272562		2168	4243	6411	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272562A>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14452A>T	11.37:g.1272562A>T	ENSP00000436812:p.Ile4818Phe					MUC5B_ENST00000529681.1_Missense_Mutation_p.I4818F	p.I4821F			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	14519	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4818			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14461A>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	A	4.891	0.165662	0.09339	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17370	2.28;2.47	2.22	-4.44	0.03557	.	.	.	.	.	T	0.12860	0.0312	L	0.57536	1.79	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.003	T	0.40515	-0.9559	9	0.87932	D	0	.	0.8873	0.01246	0.3088:0.3031:0.2377:0.1505	.	5140;4821	A7Y9J9;E9PBJ0	.;.	F	4818;4821;4762;4517	ENSP00000436812:I4818F;ENSP00000415793:I4821F	ENSP00000343037:I4762F	I	+	1	0	MUC5B	1229138	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.489000	0.06490	-1.122000	0.02945	0.113000	0.15668	ATC		0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		45	148	0	0	0	1	0	45	148				
TRPV3	162514	broad.mit.edu	37	17	3438901	3438901	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:3438901G>A	ENST00000576742.1	-	7	1071	c.750C>T	c.(748-750)ttC>ttT	p.F250F	TRPV3_ENST00000301365.4_Silent_p.F250F|TRPV3_ENST00000572519.1_Silent_p.F250F	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	250					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	ACTTGGGGTTGAAGAAGGCCC	0.692																																						ENST00000301365.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(748-750)ttC>ttT		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						35.0	34.0	35.0					17																	3438901		2202	4300	6502	SO:0001819	synonymous_variant	162514					integral to membrane	calcium channel activity	g.chr17:3438901G>A	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.750C>T	17.37:g.3438901G>A						TRPV3_ENST00000572519.1_Silent_p.F250F|TRPV3_ENST00000576742.1_Silent_p.F250F	p.F250F			Q8NET8	TRPV3_HUMAN			7	881	-			250					Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	ENST00000576742.1	37	c.750C>T	CCDS11029.1																																																																																				0.692	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		11	31	0	0	0	1	0	11	31				
COL6A6	131873	broad.mit.edu	37	3	130381066	130381066	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:130381066A>G	ENST00000358511.6	+	34	6447	c.6416A>G	c.(6415-6417)cAc>cGc	p.H2139R	COL6A6_ENST00000453409.2_Missense_Mutation_p.H2139R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2139	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCTTTGGATCACCACCTGGTC	0.458																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(6415-6417)cAc>cGc		collagen, type VI, alpha 6							146.0	149.0	148.0					3																	130381066		1946	4149	6095	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130381066A>G	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.6416A>G	3.37:g.130381066A>G	ENSP00000351310:p.His2139Arg					COL6A6_ENST00000453409.2_Missense_Mutation_p.H2139R	p.H2139R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			34	6447	+			2139			Nonhelical region.|VWFA 9.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.6416A>G	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	A	13.95	2.390174	0.42410	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.12879	2.64;2.64	5.66	5.66	0.87406	von Willebrand factor, type A (2);	.	.	.	.	T	0.31482	0.0798	M	0.77820	2.39	0.31315	N	0.686707	P;P	0.38250	0.488;0.624	P;P	0.49012	0.527;0.598	T	0.20706	-1.0267	9	0.32370	T	0.25	.	15.9063	0.79433	1.0:0.0:0.0:0.0	.	2139;2139	A6NMZ7;F8W6Y7	CO6A6_HUMAN;.	R	2139	ENSP00000351310:H2139R;ENSP00000399236:H2139R	ENSP00000351310:H2139R	H	+	2	0	COL6A6	131863756	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	6.920000	0.75799	2.161000	0.67846	0.533000	0.62120	CAC		0.458	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		44	159	0	0	0	1	0	44	159				
POU2F1	5451	broad.mit.edu	37	1	167345366	167345366	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:167345366T>A	ENST00000541643.3	+	8	785	c.623T>A	c.(622-624)aTc>aAc	p.I208N	POU2F1_ENST00000420254.3_Missense_Mutation_p.I208N|POU2F1_ENST00000429375.2_Missense_Mutation_p.I168N|POU2F1_ENST00000367862.5_Missense_Mutation_p.I220N|RP11-52A20.2_ENST00000607611.1_RNA|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.I231N|POU2F1_ENST00000452019.1_Missense_Mutation_p.I208N			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	208					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CAGTTTATCATCTCACAGACG	0.483																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(658-660)aTc>aAc		POU class 2 homeobox 1							93.0	89.0	90.0					1																	167345366		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167345366T>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.623T>A	1.37:g.167345366T>A	ENSP00000441285:p.Ile208Asn					POU2F1_ENST00000429375.2_Missense_Mutation_p.I168N|POU2F1_ENST00000367866.2_Missense_Mutation_p.I231N|POU2F1_ENST00000420254.3_Missense_Mutation_p.I208N|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000452019.1_Missense_Mutation_p.I208N|POU2F1_ENST00000541643.3_Missense_Mutation_p.I208N	p.I220N	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			7	894	+			208					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.659T>A		.	.	.	.	.	.	.	.	.	.	T	19.99	3.928069	0.73327	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000452019;ENST00000492850;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	T;D;T;T;T;T;T;T	0.86230	-1.02;-2.09;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.69	5.69	0.88448	.	0.087826	0.85682	D	0.000000	D	0.89760	0.6808	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D	0.69078	0.995;0.983;0.997;0.997;0.995	D;P;D;D;D	0.80764	0.979;0.804;0.991;0.994;0.979	D	0.91255	0.5032	10	0.87932	D	0	.	16.2703	0.82612	0.0:0.0:0.0:1.0	.	168;208;220;206;208	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	N	231;168;208;85;206;208;208;220;116	ENSP00000356840:I231N;ENSP00000401217:I168N;ENSP00000391523:I208N;ENSP00000356839:I206N;ENSP00000414660:I208N;ENSP00000441285:I208N;ENSP00000356836:I220N;ENSP00000415993:I116N	ENSP00000356836:I220N	I	+	2	0	POU2F1	165611990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.586000	0.82596	2.311000	0.77944	0.533000	0.62120	ATC		0.483	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		15	68	0	0	0	1	0	15	68				
PPFIBP1	8496	broad.mit.edu	37	12	27845553	27845553	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:27845553G>C	ENST00000318304.8	+	28	3196	c.2913G>C	c.(2911-2913)caG>caC	p.Q971H	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.Q940H|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.Q818H|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.Q965H	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	971					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAGTGAGACAGATAGGTGCAT	0.373																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(2911-2913)caG>caC		PTPRF interacting protein, binding protein 1 (liprin beta 1)							207.0	198.0	201.0					12																	27845553		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27845553G>C	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2913G>C	12.37:g.27845553G>C	ENSP00000314724:p.Gln971His					PPFIBP1_ENST00000542629.1_Missense_Mutation_p.Q940H|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.Q965H|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.Q818H	p.Q971H	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			28	3196	+	Lung SC(9;0.0873)		971					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.2913G>C	CCDS55812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.81|17.81	3.479922|3.479922	0.63849|0.63849	.|.	.|.	ENSG00000110841|ENSG00000110841	ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425|ENST00000539326	T;T;T;T|.	0.37584|.	1.19;1.62;1.62;1.64|.	5.56|5.56	1.67|1.67	0.24075|0.24075	.|.	0.000000|.	0.32372|.	U|.	0.006188|.	T|T	0.62600|0.62600	0.2441|0.2441	M|M	0.69823|0.69823	2.125|2.125	0.49798|0.49798	D|D	0.999826|0.999826	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.91635|.	0.998;0.995;0.999|.	T|T	0.58381|0.58381	-0.7646|-0.7646	10|5	0.87932|.	D|.	0|.	-19.666|-19.666	8.3086|8.3086	0.32058|0.32058	0.4788:0.0:0.5212:0.0|0.4788:0.0:0.5212:0.0	.|.	971;965;940|.	Q86W92;Q86W92-2;Q86W92-4|.	LIPB1_HUMAN;.;.|.	H|T	818;971;940;965|202	ENSP00000445425:Q818H;ENSP00000314724:Q971H;ENSP00000443442:Q940H;ENSP00000228425:Q965H|.	ENSP00000228425:Q965H|.	Q|R	+|+	3|2	2|0	PPFIBP1|PPFIBP1	27736820|27736820	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.454000|1.454000	0.35178|0.35178	0.398000|0.398000	0.25338|0.25338	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.373	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		22	175	0	0	0	1	0	22	175				
OR5M8	219484	broad.mit.edu	37	11	56258765	56258765	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:56258765T>C	ENST00000327216.2	-	1	106	c.82A>G	c.(82-84)Acg>Gcg	p.T28A		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AGAAACAGCGTGAAGAGGAGA	0.502																																						ENST00000327216.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(82-84)Acg>Gcg		olfactory receptor, family 5, subfamily M, member 8							97.0	100.0	99.0					11																	56258765		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258765T>C	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.82A>G	11.37:g.56258765T>C	ENSP00000323354:p.Thr28Ala						p.T28A	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	106	-	Esophageal squamous(21;0.00352)		28					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.82A>G	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.265998	0.23136	.	.	ENSG00000181371	ENST00000327216	T	0.00424	7.45	4.13	-2.38	0.06622	.	1.386330	0.06101	U	0.665442	T	0.00178	0.0005	N	0.04245	-0.25	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23440	-1.0188	10	0.34782	T	0.22	0.6461	5.2248	0.15389	0.1201:0.304:0.4828:0.0931	.	28	Q8NGP6	OR5M8_HUMAN	A	28	ENSP00000323354:T28A	ENSP00000323354:T28A	T	-	1	0	OR5M8	56015341	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-5.579000	0.00112	-0.717000	0.04955	-0.545000	0.04230	ACG		0.502	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		56	134	0	0	0	1	0	56	134				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			8	135	0	0	0	1	0	8	135				
ZNF45	7596	broad.mit.edu	37	19	44419190	44419190	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:44419190T>C	ENST00000269973.5	-	10	1488	c.398A>G	c.(397-399)gAa>gGa	p.E133G	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.E133G	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	133					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ATCTCGTTTTTCCAACTGGCA	0.403																																						ENST00000269973.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(397-399)gAa>gGa		zinc finger protein 45							137.0	127.0	131.0					19																	44419190		2203	4300	6503	SO:0001583	missense	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44419190T>C	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.398A>G	19.37:g.44419190T>C	ENSP00000269973:p.Glu133Gly					RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.E133G	p.E133G	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN			10	1488	-			133					P17016|P78472|Q9P1U9	Missense_Mutation	SNP	ENST00000269973.5	37	c.398A>G	CCDS12632.1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.774269	0.31411	.	.	ENSG00000124459	ENST00000269973;ENST00000328762	T	0.07567	3.18	3.96	3.96	0.45880	.	0.282534	0.18728	U	0.132826	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31166	-0.9953	10	0.42905	T	0.14	-6.0181	3.4682	0.07557	0.1984:0.1069:0.0:0.6947	.	133	Q02386	ZNF45_HUMAN	G	133	ENSP00000269973:E133G	ENSP00000269973:E133G	E	-	2	0	ZNF45	49111030	0.000000	0.05858	0.645000	0.29479	0.706000	0.40770	-0.022000	0.12480	1.795000	0.52594	0.260000	0.18958	GAA		0.403	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		15	58	0	0	0	1	0	15	58				
HOXA6	3203	broad.mit.edu	37	7	27185535	27185535	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:27185535A>G	ENST00000222728.3	-	2	468	c.444T>C	c.(442-444)ggT>ggC	p.G148G	HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000518947.2_RNA|RP1-170O19.22_ENST00000467897.2_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA5_ENST00000222726.3_5'Flank|HOXA-AS3_ENST00000521231.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	148					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CATACACAGCACCTACGAGCA	0.632																																						ENST00000222728.3																			0				central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						c.e2-1		homeobox A6							60.0	56.0	57.0					7																	27185535		2203	4300	6503	SO:0001630	splice_region_variant	3203					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27185535A>G		CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"""Homeoboxes / ANTP class : HOXL subclass"""	5107	protein-coding gene	gene with protein product		142951	"""homeo box A6"""	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.443-1T>C	7.37:g.27185535A>G						HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000518848.1_RNA	p.G148_splice	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN			2	468	-			148					A4D192|Q2M3G3|Q9UPM0	Splice_Site	SNP	ENST00000222728.3	37	c.442_splice	CCDS5407.1																																																																																				0.632	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358697.1		Silent	34	107	0	0	0	1	0	34	107				
C11orf24	53838	broad.mit.edu	37	11	68029987	68029987	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:68029987C>T	ENST00000304271.6	-	4	878	c.476G>A	c.(475-477)aGc>aAc	p.S159N	C11orf24_ENST00000530166.1_5'UTR|C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	159						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						CATGGGAGTGCTGGAGGCCGC	0.637																																					NSCLC(21;855 905 4198 36694)	ENST00000304271.6																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						c.(475-477)aGc>aAc		chromosome 11 open reading frame 24							42.0	44.0	44.0					11																	68029987		2200	4294	6494	SO:0001583	missense	53838					integral to membrane		g.chr11:68029987C>T	AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.476G>A	11.37:g.68029987C>T	ENSP00000307264:p.Ser159Asn					C11orf24_ENST00000533310.1_Intron|C11orf24_ENST00000530166.1_5'UTR	p.S159N	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN			4	878	-			159					Q9H2K4	Missense_Mutation	SNP	ENST00000304271.6	37	c.476G>A	CCDS8180.1	.	.	.	.	.	.	.	.	.	.	C	7.556	0.663615	0.14710	.	.	ENSG00000171067	ENST00000304271	T	0.36340	1.26	2.17	2.17	0.27698	.	4.334510	0.00887	N	0.002188	T	0.28599	0.0708	L	0.36672	1.1	0.09310	N	0.999999	P	0.48694	0.914	B	0.40199	0.322	T	0.21999	-1.0229	10	0.18710	T	0.47	.	5.9561	0.19273	0.0:0.8355:0.0:0.1645	.	159	Q96F05	CK024_HUMAN	N	159	ENSP00000307264:S159N	ENSP00000307264:S159N	S	-	2	0	C11orf24	67786563	0.002000	0.14202	0.001000	0.08648	0.043000	0.13939	0.271000	0.18626	0.882000	0.36016	0.460000	0.39030	AGC		0.637	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1	NM_022338		16	34	0	0	0	1	0	16	34				
CUL7	9820	broad.mit.edu	37	6	43017324	43017324	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:43017324T>C	ENST00000265348.3	-	7	1731	c.1646A>G	c.(1645-1647)cAg>cGg	p.Q549R	CUL7_ENST00000535468.1_Missense_Mutation_p.Q633R|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	549					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATTGAGTCGCTGTGGCAGAGT	0.542																																						ENST00000535468.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49						c.(1897-1899)cAg>cGg		cullin 7							110.0	97.0	102.0					6																	43017324		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43017324T>C	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1646A>G	6.37:g.43017324T>C	ENSP00000265348:p.Gln549Arg					CUL7_ENST00000265348.3_Missense_Mutation_p.Q549R	p.Q633R	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		7	1984	-			549					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.1898A>G	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	T	13.49	2.254075	0.39896	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.65178	-0.14;-0.14	5.6	3.11	0.35812	.	0.596241	0.18642	N	0.135267	T	0.28962	0.0719	L	0.32530	0.975	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.002	T	0.13361	-1.0512	10	0.35671	T	0.21	-25.6109	6.9532	0.24556	0.1326:0.073:0.0:0.7945	.	633;549	F5H0L1;Q14999	.;CUL7_HUMAN	R	549;633	ENSP00000265348:Q549R;ENSP00000438788:Q633R	ENSP00000265348:Q549R	Q	-	2	0	CUL7	43125302	0.927000	0.31430	0.990000	0.47175	0.947000	0.59692	2.572000	0.45999	0.962000	0.38057	0.533000	0.62120	CAG		0.542	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		23	78	0	0	0	1	0	23	78				
HIAT1	64645	broad.mit.edu	37	1	100534140	100534140	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:100534140C>G	ENST00000370152.3	+	7	953	c.817C>G	c.(817-819)Cag>Gag	p.Q273E	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	273					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ATACCTCAGACAGGTAAAATC	0.393																																						ENST00000370152.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(817-819)Cag>Gag		hippocampus abundant transcript 1							105.0	103.0	104.0					1																	100534140		2203	4300	6503	SO:0001583	missense	64645				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100534140C>G	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.817C>G	1.37:g.100534140C>G	ENSP00000359171:p.Gln273Glu					RP4-714D9.2_ENST00000432294.1_RNA	p.Q273E	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	7	953	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	273					Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	ENST00000370152.3	37	c.817C>G	CCDS763.1	.	.	.	.	.	.	.	.	.	.	C	8.073	0.770728	0.15983	.	.	ENSG00000156875	ENST00000370152	T	0.80653	-1.4	5.93	5.93	0.95920	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.70107	0.3186	L	0.45581	1.43	0.80722	D	1	B	0.17038	0.02	B	0.24701	0.055	T	0.64188	-0.6466	10	0.27082	T	0.32	-22.3106	20.3409	0.98764	0.0:1.0:0.0:0.0	.	273	Q96MC6	HIAT1_HUMAN	E	273	ENSP00000359171:Q273E	ENSP00000359171:Q273E	Q	+	1	0	HIAT1	100306728	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	7.818000	0.86416	2.814000	0.96858	0.655000	0.94253	CAG		0.393	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		22	94	0	0	0	1	0	22	94				
NHS	4810	broad.mit.edu	37	X	17744917	17744917	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:17744917G>A	ENST00000380060.3	+	6	2966	c.2628G>A	c.(2626-2628)acG>acA	p.T876T	NHS_ENST00000398097.3_Silent_p.T720T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	897					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TCGCCAACACGCCTTCTCGAA	0.473																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(2626-2628)acG>acA		Nance-Horan syndrome (congenital cataracts and dental anomalies)							98.0	90.0	92.0					X																	17744917		2203	4300	6503	SO:0001819	synonymous_variant	4810					nucleus		g.chrX:17744917G>A		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2628G>A	X.37:g.17744917G>A						NHS_ENST00000398097.3_Silent_p.T720T	p.T876T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			6	2966	+	Hepatocellular(33;0.183)		876					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	ENST00000380060.3	37	c.2628G>A	CCDS14181.1																																																																																				0.473	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		39	54	0	0	0	1	0	39	54				
LRRC74A	145497	broad.mit.edu	37	14	77294742	77294742	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:77294742A>G	ENST00000393774.3	+	2	321	c.197A>G	c.(196-198)gAa>gGa	p.E66G	C14orf166B_ENST00000450042.2_Missense_Mutation_p.E49G|C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000216453.5_Missense_Mutation_p.E23G	NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GAGAATTCGGAAACAGACCTG	0.522																																					Ovarian(165;1056 1958 32571 36789 48728)	ENST00000393774.3																			0				breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18						c.(196-198)gAa>gGa		chromosome 14 open reading frame 166B							60.0	62.0	61.0					14																	77294742		1901	4108	6009	SO:0001583	missense	145497							g.chr14:77294742A>G																												ENST00000393774.3:c.197A>G	14.37:g.77294742A>G	ENSP00000377369:p.Glu66Gly					C14orf166B_ENST00000216453.5_Missense_Mutation_p.E23G|C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Missense_Mutation_p.E49G	p.E66G	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	2	321	+			66						Missense_Mutation	SNP	ENST00000393774.3	37	c.197A>G	CCDS9853.2	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509567	0.64522	.	.	ENSG00000100565	ENST00000393774;ENST00000555189;ENST00000450042;ENST00000216453	T;T	0.39997	1.05;2.01	5.83	5.83	0.93111	.	.	.	.	.	T	0.59088	0.2168	M	0.72894	2.215	0.28528	N	0.912748	D	0.62365	0.991	P	0.57244	0.816	T	0.58640	-0.7601	9	0.49607	T	0.09	.	14.4145	0.67139	1.0:0.0:0.0:0.0	.	66	Q0VAA2	CN16B_HUMAN	G	66;66;49;23	ENSP00000377369:E66G;ENSP00000396260:E49G	ENSP00000216450:E66G	E	+	2	0	C14orf166B	76364495	1.000000	0.71417	0.999000	0.59377	0.209000	0.24338	5.413000	0.66399	2.229000	0.72834	0.533000	0.62120	GAA		0.522	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			36	104	0	0	0	1	0	36	104				
RANBP2	5903	broad.mit.edu	37	2	109357008	109357008	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:109357008C>A	ENST00000283195.6	+	7	972	c.846C>A	c.(844-846)ttC>ttA	p.F282L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	282					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAGCTACTTTCTTAGAAATGA	0.378																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(844-846)ttC>ttA		RAN binding protein 2							231.0	247.0	241.0					2																	109357008		2045	3886	5931	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109357008C>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.846C>A	2.37:g.109357008C>A	ENSP00000283195:p.Phe282Leu						p.F282L	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			7	972	+			282					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.846C>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966331	0.34659	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.29142	1.58	4.79	1.96	0.26148	.	.	.	.	.	T	0.21674	0.0522	L	0.37750	1.13	0.19775	N	0.999953	B	0.17465	0.022	B	0.15052	0.012	T	0.22138	-1.0225	9	0.46703	T	0.11	-4.1873	5.1727	0.15118	0.1324:0.5768:0.0:0.2908	.	282	P49792	RBP2_HUMAN	L	282	ENSP00000283195:F282L	ENSP00000283195:F282L	F	+	3	2	RANBP2	108723440	0.626000	0.27120	0.354000	0.25760	0.998000	0.95712	1.088000	0.30877	0.186000	0.20125	0.555000	0.69702	TTC		0.378	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		86	299	1	0	7.49063e-41	1	7.94504e-41	86	299				
JARID2	3720	broad.mit.edu	37	6	15497123	15497123	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:15497123A>T	ENST00000341776.2	+	7	1911	c.1667A>T	c.(1666-1668)gAg>gTg	p.E556V	JARID2_ENST00000541660.1_Missense_Mutation_p.E518V|JARID2_ENST00000397311.3_Missense_Mutation_p.E384V	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	556					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GCCATGGACGAGATCCCCGTC	0.652																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(1666-1668)gAg>gTg		jumonji, AT rich interactive domain 2							39.0	37.0	38.0					6																	15497123		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15497123A>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1667A>T	6.37:g.15497123A>T	ENSP00000341280:p.Glu556Val					JARID2_ENST00000541660.1_Missense_Mutation_p.E518V|JARID2_ENST00000397311.3_Missense_Mutation_p.E384V	p.E556V	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			7	1911	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	556					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.1667A>T	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.728900	0.89390	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.91407	-2.2;-2.21;-2.84	5.23	5.23	0.72850	Transcription factor jumonji, JmjN (1);	0.098967	0.64402	D	0.000002	D	0.88687	0.6504	L	0.29908	0.895	0.80722	D	1	D;D;P	0.59357	0.963;0.985;0.938	P;P;P	0.58266	0.626;0.836;0.502	D	0.90721	0.4635	10	0.62326	D	0.03	-21.5803	15.1004	0.72269	1.0:0.0:0.0:0.0	.	518;420;556	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	V	420;556;384;518	ENSP00000341280:E556V;ENSP00000380478:E384V;ENSP00000444623:E518V	ENSP00000341280:E556V	E	+	2	0	JARID2	15605102	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.925000	0.92832	1.967000	0.57214	0.418000	0.28097	GAG		0.652	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		10	25	0	0	0	1	0	10	25				
UNC13B	10497	broad.mit.edu	37	9	35376184	35376184	+	Missense_Mutation	SNP	G	G	A	rs368769067		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35376184G>A	ENST00000378495.3	+	14	1750	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	UNC13B_ENST00000396787.1_Missense_Mutation_p.E522K|UNC13B_ENST00000378496.4_Missense_Mutation_p.E510K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	510					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GCGCTGCAGCGAATGTGGAGT	0.612																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(1528-1530)Gaa>Aaa		unc-13 homolog B (C. elegans)		G	LYS/GLU	0,4406		0,0,2203	78.0	76.0	77.0		1528	5.3	1.0	9		77	1,8599	1.2+/-3.3	0,1,4299	no	missense	UNC13B	NM_006377.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	510/1592	35376184	1,13005	2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35376184G>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1528G>A	9.37:g.35376184G>A	ENSP00000367756:p.Glu510Lys					UNC13B_ENST00000378496.4_Missense_Mutation_p.E510K|UNC13B_ENST00000396787.1_Missense_Mutation_p.E522K	p.E510K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		14	1750	+	all_epithelial(49;0.212)		510					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.1528G>A	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	34	5.317621	0.95682	0.0	1.16E-4	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.92911	-3.13;-3.13;-3.13	6.16	5.26	0.73747	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.051635	0.85682	D	0.000000	D	0.94584	0.8255	L	0.45470	1.425	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.95	D	0.95206	0.8321	10	0.87932	D	0	-19.4713	17.5775	0.87955	0.0:0.1235:0.8765:0.0	.	510;510	F8W8M9;O14795	.;UN13B_HUMAN	K	522;510;510;97	ENSP00000380006:E522K;ENSP00000367756:E510K;ENSP00000367757:E510K	ENSP00000367756:E510K	E	+	1	0	UNC13B	35366184	1.000000	0.71417	0.957000	0.39632	0.824000	0.46624	8.001000	0.88508	1.600000	0.50102	0.650000	0.86243	GAA		0.612	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		37	132	0	0	0	1	0	37	132				
HECW2	57520	broad.mit.edu	37	2	197184031	197184031	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:197184031T>C	ENST00000260983.3	-	9	1765	c.1583A>G	c.(1582-1584)gAt>gGt	p.D528G	HECW2_ENST00000409111.1_Missense_Mutation_p.D172G	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	528					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TTCTGGCTTATCCTCAAAGGA	0.552																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(1582-1584)gAt>gGt		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							72.0	70.0	71.0					2																	197184031		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197184031T>C	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1583A>G	2.37:g.197184031T>C	ENSP00000260983:p.Asp528Gly					HECW2_ENST00000409111.1_Missense_Mutation_p.D172G	p.D528G	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			9	1765	-			528					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1583A>G	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	T	7.781	0.709536	0.15239	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.32515	1.45;1.46	5.51	4.36	0.52297	.	1.997010	0.01736	N	0.029139	T	0.25680	0.0625	N	0.19112	0.55	0.26347	N	0.977271	B	0.02656	0.0	B	0.01281	0.0	T	0.19679	-1.0298	10	0.59425	D	0.04	.	8.1851	0.31335	0.0:0.1536:0.0:0.8464	.	528	Q9P2P5	HECW2_HUMAN	G	172;528	ENSP00000386775:D172G;ENSP00000260983:D528G	ENSP00000260983:D528G	D	-	2	0	HECW2	196892276	0.376000	0.25098	0.620000	0.29132	0.154000	0.21943	1.057000	0.30492	1.110000	0.41699	0.459000	0.35465	GAT		0.552	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		7	60	0	0	0	1	0	7	60				
TMEM130	222865	broad.mit.edu	37	7	98457952	98457952	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:98457952A>G	ENST00000416379.2	-	3	405	c.401T>C	c.(400-402)gTg>gCg	p.V134A	TMEM130_ENST00000546258.1_Missense_Mutation_p.V115A|TMEM130_ENST00000345589.4_Missense_Mutation_p.V32A|TMEM130_ENST00000339375.4_Missense_Mutation_p.V134A|TMEM130_ENST00000450876.1_Missense_Mutation_p.V50A			Q8N3G9	TM130_HUMAN	transmembrane protein 130	134						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGGTCCCCCACGAGGAACTC	0.567																																						ENST00000450876.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25						c.(148-150)gTg>gCg		transmembrane protein 130							84.0	77.0	79.0					7																	98457952		2203	4300	6503	SO:0001583	missense	222865					Golgi membrane|integral to membrane		g.chr7:98457952A>G		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.401T>C	7.37:g.98457952A>G	ENSP00000413163:p.Val134Ala					TMEM130_ENST00000339375.4_Missense_Mutation_p.V134A|TMEM130_ENST00000546258.1_Missense_Mutation_p.V115A|TMEM130_ENST00000416379.2_Missense_Mutation_p.V134A|TMEM130_ENST00000345589.4_Missense_Mutation_p.V32A	p.V50A			Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	1464	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		134					A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Missense_Mutation	SNP	ENST00000416379.2	37	c.149T>C	CCDS47650.1	.	.	.	.	.	.	.	.	.	.	A	9.296	1.051862	0.19827	.	.	ENSG00000166448	ENST00000416379;ENST00000339375;ENST00000450876;ENST00000345589;ENST00000546258	T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42	4.38	4.38	0.52667	.	0.341032	0.24363	N	0.039180	T	0.15652	0.0377	L	0.56769	1.78	0.09310	N	1	P;P;P;P	0.40534	0.72;0.72;0.72;0.59	B;B;B;B	0.35278	0.199;0.199;0.199;0.199	T	0.15867	-1.0422	10	0.18276	T	0.48	-8.6502	12.2077	0.54361	1.0:0.0:0.0:0.0	.	134;115;134;32	Q8N3G9-2;B7Z2F1;Q8N3G9;Q8N3G9-3	.;.;TM130_HUMAN;.	A	134;134;50;32;115	ENSP00000413163:V134A;ENSP00000341256:V134A;ENSP00000390200:V50A;ENSP00000330262:V32A;ENSP00000445869:V115A	ENSP00000341256:V134A	V	-	2	0	TMEM130	98295888	0.573000	0.26676	0.010000	0.14722	0.007000	0.05969	3.196000	0.51020	1.924000	0.55735	0.528000	0.53228	GTG		0.567	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		14	37	0	0	0	1	0	14	37				
CR1L	1379	broad.mit.edu	37	1	207868064	207868064	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:207868064A>G	ENST00000508064.2	+	5	890	c.830A>G	c.(829-831)aAa>aGa	p.K277R	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	277	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCCCTGAACAAATGGGAGCCA	0.512																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(829-831)aAa>aGa		complement component (3b/4b) receptor 1-like							81.0	83.0	83.0					1																	207868064		1951	4147	6098	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207868064A>G	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.830A>G	1.37:g.207868064A>G	ENSP00000421736:p.Lys277Arg					CR1L_ENST00000530905.1_Intron	p.K277R	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			5	890	+			277			Sushi 4.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.830A>G	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	A	8.225	0.803282	0.16397	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.63580	-0.05	2.38	-0.432	0.12291	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.52370	0.1730	L	0.54965	1.715	0.26149	N	0.980179	B	0.20368	0.044	B	0.29077	0.098	T	0.45220	-0.9276	9	0.29301	T	0.29	.	4.7965	0.13276	0.6676:0.0:0.3324:0.0	.	277	Q2VPA4	CR1L_HUMAN	R	277	ENSP00000421736:K277R	ENSP00000434864:K221R	K	+	2	0	CR1L	205934687	0.008000	0.16893	0.688000	0.30117	0.155000	0.21991	-0.737000	0.04877	-0.240000	0.09696	0.248000	0.18094	AAA		0.512	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		4	199	0	0	0	1	0	4	199				
ILDR1	286676	broad.mit.edu	37	3	121712409	121712409	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:121712409T>C	ENST00000344209.5	-	7	1313	c.1187A>G	c.(1186-1188)gAc>gGc	p.D396G	ILDR1_ENST00000273691.3_Missense_Mutation_p.D352G|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Missense_Mutation_p.D307G|ILDR1_ENST00000462014.1_Missense_Mutation_p.D364G	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	396					positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CCACGATGGGTCCAACTCCCT	0.577																																						ENST00000273691.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1054-1056)gAc>gGc		immunoglobulin-like domain containing receptor 1							83.0	77.0	79.0					3																	121712409		2203	4300	6503	SO:0001583	missense	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121712409T>C	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.1187A>G	3.37:g.121712409T>C	ENSP00000345667:p.Asp396Gly					ILDR1_ENST00000393631.1_Missense_Mutation_p.D307G|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.D396G|ILDR1_ENST00000462014.1_Missense_Mutation_p.D364G	p.D352G	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	6	1160	-			396					Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	c.1055A>G	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	T	6.205	0.405915	0.11754	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;T;T	0.79247	-0.66;-0.58;-1.25;-0.26	5.31	4.16	0.48862	.	0.749112	0.14310	N	0.327757	T	0.69895	0.3162	L	0.44542	1.39	0.09310	N	1	P;B;P;P	0.52316	0.952;0.043;0.649;0.775	B;B;B;B	0.43413	0.419;0.04;0.164;0.225	T	0.58885	-0.7557	10	0.38643	T	0.18	-8.1755	7.9273	0.29883	0.0:0.0943:0.0:0.9057	.	307;396;352;364	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	G	352;396;307;364	ENSP00000273691:D352G;ENSP00000345667:D396G;ENSP00000377251:D307G;ENSP00000419414:D364G	ENSP00000273691:D352G	D	-	2	0	ILDR1	123195099	0.122000	0.22280	0.337000	0.25536	0.003000	0.03518	0.737000	0.26144	0.853000	0.35312	0.533000	0.62120	GAC		0.577	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924		26	73	0	0	0	1	0	26	73				
AGPAT2	10555	broad.mit.edu	37	9	139571444	139571444	+	Missense_Mutation	SNP	G	G	A	rs150530734	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:139571444G>A	ENST00000371696.2	-	3	526	c.461C>T	c.(460-462)gCc>gTc	p.A154V	AGPAT2_ENST00000538402.1_Missense_Mutation_p.A154V|AGPAT2_ENST00000371694.3_Missense_Mutation_p.A154V	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	154					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GCCCAGGTCGGCCATCACTGT	0.687																																						ENST00000371696.2																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.(460-462)gCc>gTc		1-acylglycerol-3-phosphate O-acyltransferase 2							64.0	68.0	67.0					9																	139571444		2203	4300	6503	SO:0001583	missense	10555				phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr9:139571444G>A	AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	325	protein-coding gene	gene with protein product	"""LPAAT-beta"", ""lysophosphatidic acid acyltransferase, beta"""	603100	"""Berardinelli-Seip congenital lipodystrophy"", ""1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"""	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.461C>T	9.37:g.139571444G>A	ENSP00000360761:p.Ala154Val					AGPAT2_ENST00000371694.3_Missense_Mutation_p.A154V|AGPAT2_ENST00000538402.1_Missense_Mutation_p.A154V	p.A154V	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	3	526	-	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)	154					O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Missense_Mutation	SNP	ENST00000371696.2	37	c.461C>T	CCDS7003.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893537	0.52121	.	.	ENSG00000169692	ENST00000371694;ENST00000371696;ENST00000538402	D;D;D	0.93247	-3.19;-3.19;-3.19	4.75	2.77	0.32553	Phospholipid/glycerol acyltransferase (2);1-acyl-sn-glycerol-3-phosphate acyltransferase (1);	0.515114	0.19990	N	0.101599	D	0.91362	0.7275	L	0.57130	1.785	0.35235	D	0.777314	P;P	0.37276	0.516;0.589	B;B	0.39971	0.281;0.315	D	0.94377	0.7601	10	0.72032	D	0.01	-1.2346	11.3315	0.49479	0.0:0.1339:0.7285:0.1376	.	154;154	O15120-2;O15120	.;PLCB_HUMAN	V	154	ENSP00000360759:A154V;ENSP00000360761:A154V;ENSP00000438919:A154V	ENSP00000360759:A154V	A	-	2	0	AGPAT2	138691265	0.887000	0.30362	0.736000	0.30914	0.356000	0.29392	2.749000	0.47492	2.186000	0.69663	0.655000	0.94253	GCC		0.687	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1	NM_006412		4	157	0	0	0	1	0	4	157				
EPB41L3	23136	broad.mit.edu	37	18	5423449	5423449	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:5423449T>C	ENST00000341928.2	-	11	1607	c.1267A>G	c.(1267-1269)Ata>Gta	p.I423V	EPB41L3_ENST00000540638.2_Missense_Mutation_p.I423V|EPB41L3_ENST00000400111.3_Missense_Mutation_p.I423V|EPB41L3_ENST00000342933.3_Missense_Mutation_p.I423V|EPB41L3_ENST00000544123.1_Missense_Mutation_p.I423V|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	423	Hydrophilic.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGGCGATCTATCAACGCACTG	0.488																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1267-1269)Ata>Gta		erythrocyte membrane protein band 4.1-like 3							194.0	146.0	162.0					18																	5423449		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5423449T>C	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1267A>G	18.37:g.5423449T>C	ENSP00000343158:p.Ile423Val					EPB41L3_ENST00000544123.1_Missense_Mutation_p.I423V|EPB41L3_ENST00000540638.2_Missense_Mutation_p.I423V|EPB41L3_ENST00000400111.3_Missense_Mutation_p.I423V|EPB41L3_ENST00000342933.3_Missense_Mutation_p.I423V|EPB41L3_ENST00000542652.2_5'UTR	p.I423V	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			11	1607	-			423			Hydrophilic.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1267A>G	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.741282	0.89573	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	6.08	6.08	0.98989	FERM adjacent (FA) (1);	0.000000	0.85682	D	0.000000	D	0.93641	0.7969	M	0.79805	2.47	0.80722	D	1	P;D;D;D	0.63880	0.93;0.993;0.991;0.99	P;D;D;D	0.76071	0.902;0.987;0.978;0.965	D	0.93921	0.7206	10	0.59425	D	0.04	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	423;314;423;423	F5GX05;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;E41L3_HUMAN	V	423;314;423;314;423;423	ENSP00000343158:I423V;ENSP00000441174:I423V;ENSP00000341138:I423V;ENSP00000382981:I423V	ENSP00000343158:I423V	I	-	1	0	EPB41L3	5413449	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.010000	0.88615	2.333000	0.79357	0.482000	0.46254	ATA		0.488	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		21	54	0	0	0	1	0	21	54				
DSEL	92126	broad.mit.edu	37	18	65180745	65180745	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:65180745G>A	ENST00000310045.7	-	2	2604	c.1131C>T	c.(1129-1131)caC>caT	p.H377H	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	367					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTTTAGGTCGGTGCTTTCTAA	0.438																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1129-1131)caC>caT		dermatan sulfate epimerase-like							120.0	117.0	118.0					18																	65180745		2203	4300	6503	SO:0001819	synonymous_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180745G>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1131C>T	18.37:g.65180745G>A						CTD-2541J13.2_ENST00000583493.1_RNA	p.H377H	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	2604	-		Esophageal squamous(42;0.129)	367					Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	c.1131C>T	CCDS11995.1																																																																																				0.438	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		28	80	0	0	0	1	0	28	80				
ERCC2	2068	broad.mit.edu	37	19	45855501	45855501	+	Missense_Mutation	SNP	T	T	C	rs533062241		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:45855501T>C	ENST00000391945.4	-	22	2233	c.2156A>G	c.(2155-2157)tAc>tGc	p.Y719C	ERCC2_ENST00000391944.3_Missense_Mutation_p.Y641C	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	719			Missing (in XP-D and TTDP). {ECO:0000269|PubMed:9195225}.		7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCGCAGGAAGTACTTGGCCAC	0.662			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				T|||	1	0.000199681	0.0008	0.0	5008	,	,		18704	0.0		0.0	False		,,,				2504	0.0					ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"""Mis, N, F, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(2155-2157)tAc>tGc	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							85.0	64.0	71.0					19																	45855501		2203	4300	6503	SO:0001583	missense	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45855501T>C		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.2156A>G	19.37:g.45855501T>C	ENSP00000375809:p.Tyr719Cys					ERCC2_ENST00000391944.3_Missense_Mutation_p.Y641C	p.Y719C	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	22	2233	-		Ovarian(192;0.0728)|all_neural(266;0.112)	719		Missing (in XP-D and TTDP).			Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.2156A>G	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.218630	0.79464	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	T;D	0.82081	-1.34;-1.57	5.27	5.27	0.74061	.	0.119284	0.56097	D	0.000030	T	0.72946	0.3524	N	0.08118	0	0.80722	D	1	P;P;P	0.51240	0.67;0.532;0.943	B;B;P	0.46718	0.095;0.095;0.525	T	0.78866	-0.2035	10	0.66056	D	0.02	-29.2529	13.1514	0.59492	0.0:0.0:0.0:1.0	.	641;719;412	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	C	669;695;719;641	ENSP00000375809:Y719C;ENSP00000375808:Y641C	ENSP00000375805:Y669C	Y	-	2	0	ERCC2	50547341	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.445000	0.66594	1.992000	0.58205	0.459000	0.35465	TAC		0.662	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		27	61	0	0	0	1	0	27	61				
DSCAM	1826	broad.mit.edu	37	21	41452138	41452138	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:41452138T>C	ENST00000400454.1	-	25	4838	c.4361A>G	c.(4360-4362)cAa>cGa	p.Q1454R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1454	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACTCCATTTTGGGCTGTCAG	0.458																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(4360-4362)cAa>cGa		Down syndrome cell adhesion molecule							146.0	137.0	140.0					21																	41452138		1857	4114	5971	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41452138T>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4361A>G	21.37:g.41452138T>C	ENSP00000383303:p.Gln1454Arg						p.Q1454R	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			25	4838	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1454			Fibronectin type-III 5.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.4361A>G	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	1.065	-0.671785	0.03403	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.55930	0.49;0.49	5.04	5.04	0.67666	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48259	0.1490	N	0.03948	-0.315	0.37850	D	0.929344	D	0.64830	0.994	D	0.76575	0.988	T	0.57562	-0.7790	10	0.25751	T	0.34	.	13.9893	0.64355	0.0:0.0:0.0:1.0	.	1454	O60469	DSCAM_HUMAN	R	1454;1206	ENSP00000383303:Q1454R;ENSP00000385342:Q1206R	ENSP00000383303:Q1454R	Q	-	2	0	DSCAM	40374008	1.000000	0.71417	0.922000	0.36590	0.024000	0.10985	6.197000	0.72100	1.896000	0.54893	0.460000	0.39030	CAA		0.458	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		14	125	0	0	0	1	0	14	125				
YY1	7528	broad.mit.edu	37	14	100743827	100743827	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:100743827G>A	ENST00000262238.4	+	5	1395	c.1135G>A	c.(1135-1137)Gga>Aga	p.G379R	AL157871.2_ENST00000553954.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	379	Binding to DNA.|Involved in masking transactivation domain.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				AATCCATACCGGAGACAGGCC	0.468																																						ENST00000262238.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11						c.(1135-1137)Gga>Aga		YY1 transcription factor							125.0	110.0	115.0					14																	100743827		2203	4300	6503	SO:0001583	missense	7528				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr14:100743827G>A	BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"""INO80 complex subunits"", ""Zinc fingers, C2H2-type"""	12856	protein-coding gene	gene with protein product	"""INO80 complex subunit S"", ""Yin and Yang 1 protein"""	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.1135G>A	14.37:g.100743827G>A	ENSP00000262238:p.Gly379Arg						p.G379R	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN			5	1395	+		Melanoma(154;0.152)	379			Involved in masking transactivation domain.		Q14935	Missense_Mutation	SNP	ENST00000262238.4	37	c.1135G>A	CCDS9957.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458298	0.84317	.	.	ENSG00000100811	ENST00000262238	T	0.52057	0.68	5.65	5.65	0.86999	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.67183	0.2866	L	0.56340	1.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67473	-0.5662	10	0.87932	D	0	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	379	P25490	TYY1_HUMAN	R	379	ENSP00000262238:G379R	ENSP00000262238:G379R	G	+	1	0	YY1	99813580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.779000	0.99018	2.824000	0.97209	0.655000	0.94253	GGA		0.468	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318277.1	NM_003403		32	76	0	0	0	1	0	32	76				
FAM214B	80256	broad.mit.edu	37	9	35106373	35106373	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35106373C>T	ENST00000378561.1	-	5	4149	c.1094G>A	c.(1093-1095)gGc>gAc	p.G365D	FAM214B_ENST00000378557.1_Missense_Mutation_p.G365D|FAM214B_ENST00000378566.1_Missense_Mutation_p.G60D|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000603301.1_Missense_Mutation_p.G365D|FAM214B_ENST00000378554.2_Missense_Mutation_p.G365D|FAM214B_ENST00000322813.5_Missense_Mutation_p.G365D|FAM214B_ENST00000605244.1_Missense_Mutation_p.G365D|FAM214B_ENST00000488109.2_Missense_Mutation_p.G365D			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	365						nucleus (GO:0005634)											CTCAATGTGGCCAGATGGTGC	0.493																																						ENST00000378561.1																			0											c.(1093-1095)gGc>gAc		family with sequence similarity 214, member B							96.0	85.0	89.0					9																	35106373		2203	4300	6503	SO:0001583	missense	80256					nucleus		g.chr9:35106373C>T	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.1094G>A	9.37:g.35106373C>T	ENSP00000367823:p.Gly365Asp					FAM214B_ENST00000488109.2_Missense_Mutation_p.G365D|FAM214B_ENST00000378566.1_Missense_Mutation_p.G60D|FAM214B_ENST00000603301.1_Missense_Mutation_p.G365D|FAM214B_ENST00000378557.1_Missense_Mutation_p.G365D|FAM214B_ENST00000322813.5_Missense_Mutation_p.G365D|FAM214B_ENST00000605244.1_Missense_Mutation_p.G365D|FAM214B_ENST00000378554.2_Missense_Mutation_p.G365D	p.G365D			Q7L5A3	K1539_HUMAN			5	4149	-			365					B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	ENST00000378561.1	37	c.1094G>A	CCDS6578.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.393955	0.83011	.	.	ENSG00000005238	ENST00000378566;ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.77665	0.4164	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75545	-0.3280	9	0.42905	T	0.14	-22.9467	18.939	0.92598	0.0:1.0:0.0:0.0	.	365	Q7L5A3	K1539_HUMAN	D	60;365;365;365;365	.	ENSP00000319897:G365D	G	-	2	0	KIAA1539	35096373	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.243000	0.78219	2.813000	0.96785	0.655000	0.94253	GGC		0.493	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182		15	66	0	0	0	1	0	15	66				
IMPACT	55364	broad.mit.edu	37	18	22025367	22025367	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:22025367T>C	ENST00000284202.4	+	8	746	c.605T>C	c.(604-606)gTt>gCt	p.V202A		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	202					negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GTGAAAATGGTTCTTTCCAAA	0.313																																						ENST00000284202.4																			0				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16						c.(604-606)gTt>gCt		impact RWD domain protein							83.0	85.0	84.0					18																	22025367		2203	4299	6502	SO:0001583	missense	55364							g.chr18:22025367T>C	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.605T>C	18.37:g.22025367T>C	ENSP00000284202:p.Val202Ala						p.V202A	NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN			8	746	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		202					A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	c.605T>C	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.381115	0.82792	.	.	ENSG00000154059	ENST00000284202	T	0.32753	1.44	5.32	5.32	0.75619	Ribosomal protein S5 domain 2-type fold (1);Impact, N-terminal (2);	0.112329	0.64402	D	0.000013	T	0.44850	0.1313	L	0.58302	1.8	0.49213	D	0.999766	D	0.54397	0.966	P	0.55615	0.78	T	0.42378	-0.9455	10	0.66056	D	0.02	.	13.0896	0.59160	0.0:0.0:0.0:1.0	.	202	Q9P2X3	IMPCT_HUMAN	A	202	ENSP00000284202:V202A	ENSP00000284202:V202A	V	+	2	0	IMPACT	20279365	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.453000	0.80700	2.139000	0.66308	0.477000	0.44152	GTT		0.313	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439		17	45	0	0	0	1	0	17	45				
F13B	2165	broad.mit.edu	37	1	197030932	197030932	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:197030932T>C	ENST00000367412.1	-	3	476	c.433A>G	c.(433-435)Acc>Gcc	p.T145A		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	145	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.T145A(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTCCTACAGGTTGGTTGAGAA	0.373																																						ENST00000367412.1																			2	Substitution - Missense(2)	p.T145A(2)	prostate(1)|skin(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(433-435)Acc>Gcc		coagulation factor XIII, B polypeptide							129.0	111.0	117.0					1																	197030932		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197030932T>C	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.433A>G	1.37:g.197030932T>C	ENSP00000356382:p.Thr145Ala						p.T145A	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			3	476	-			145			Sushi 2.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.433A>G	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.462181	0.26248	.	.	ENSG00000143278	ENST00000367412	T	0.65916	-0.18	5.85	-9.51	0.00581	Complement control module (2);Sushi/SCR/CCP (3);	0.833937	0.09797	N	0.754625	T	0.45776	0.1359	L	0.54908	1.71	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.15578	-1.0432	10	0.30078	T	0.28	.	6.9834	0.24715	0.1635:0.5554:0.0932:0.1879	.	145	P05160	F13B_HUMAN	A	145	ENSP00000356382:T145A	ENSP00000356382:T145A	T	-	1	0	F13B	195297555	0.000000	0.05858	0.075000	0.20258	0.887000	0.51463	-0.915000	0.04033	-2.131000	0.00815	-0.408000	0.06270	ACC		0.373	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		10	46	0	0	0	1	0	10	46				
ZNF76	7629	broad.mit.edu	37	6	35260407	35260407	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:35260407C>T	ENST00000373953.3	+	10	1274	c.1008C>T	c.(1006-1008)caC>caT	p.H336H	ZNF76_ENST00000339411.5_Silent_p.H336H|ZNF76_ENST00000440666.2_Silent_p.H310H	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	336					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						ATAAGCACCACGTGGTGCACA	0.627																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(1006-1008)caC>caT		zinc finger protein 76							106.0	75.0	85.0					6																	35260407		2203	4300	6503	SO:0001819	synonymous_variant	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35260407C>T	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1008C>T	6.37:g.35260407C>T						ZNF76_ENST00000440666.2_Silent_p.H310H|ZNF76_ENST00000339411.5_Silent_p.H336H	p.H336H	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN			10	1274	+			336					Q9BQB2	Silent	SNP	ENST00000373953.3	37	c.1008C>T	CCDS4801.1																																																																																				0.627	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		25	86	0	0	0	1	0	25	86				
OR4M1	441670	broad.mit.edu	37	14	20248750	20248750	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:20248750A>G	ENST00000315957.4	+	1	350	c.269A>G	c.(268-270)aAg>aGg	p.K90R		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	90						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(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGAGAGGAAGATAATTTCC	0.443																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(268-270)aAg>aGg		olfactory receptor, family 4, subfamily M, member 1							257.0	278.0	271.0					14																	20248750		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248750A>G		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.269A>G	14.37:g.20248750A>G	ENSP00000319654:p.Lys90Arg						p.K90R	NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	350	+	all_cancers(95;0.00108)		90					B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.269A>G	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	14.53	2.561748	0.45590	.	.	ENSG00000176299	ENST00000315957	T	0.37584	1.19	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000142	T	0.31136	0.0787	L	0.56124	1.755	0.09310	N	1	B	0.14438	0.01	B	0.17722	0.019	T	0.27054	-1.0085	10	0.66056	D	0.02	-11.6614	6.4222	0.21750	0.8903:0.0:0.1097:0.0	.	90	Q8NGD0	OR4M1_HUMAN	R	90	ENSP00000319654:K90R	ENSP00000319654:K90R	K	+	2	0	OR4M1	19318590	0.866000	0.29940	1.000000	0.80357	0.930000	0.56654	2.693000	0.47027	1.894000	0.54839	0.330000	0.21533	AAG		0.443	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			9	648	0	0	0	1	0	9	648				
HP1BP3	50809	broad.mit.edu	37	1	21074117	21074117	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:21074117G>A	ENST00000312239.5	-	11	1312	c.1173C>T	c.(1171-1173)tgC>tgT	p.C391C	HP1BP3_ENST00000375003.2_Silent_p.C239C	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	391	H15 3. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CATTCTTTTCGCATTTCTGCA	0.383																																						ENST00000375003.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16						c.(715-717)tgC>tgT		heterochromatin protein 1, binding protein 3							99.0	93.0	95.0					1																	21074117		2203	4300	6503	SO:0001819	synonymous_variant	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21074117G>A	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.1173C>T	1.37:g.21074117G>A						HP1BP3_ENST00000312239.5_Silent_p.C391C	p.C239C			Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	7	2217	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	391					A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Silent	SNP	ENST00000312239.5	37	c.717C>T	CCDS30621.1																																																																																				0.383	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287		10	42	0	0	0	1	0	10	42				
LRP1B	53353	broad.mit.edu	37	2	141607801	141607801	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:141607801A>G	ENST00000389484.3	-	29	5780	c.4809T>C	c.(4807-4809)ccT>ccC	p.P1603P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1603					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCAATATCAGGGACTGTAA	0.348										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(4807-4809)ccT>ccC		low density lipoprotein receptor-related protein 1B							153.0	145.0	148.0					2																	141607801		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141607801A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4809T>C	2.37:g.141607801A>G		TSP Lung(27;0.18)					p.P1603P	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	29	5780	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1603					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.4809T>C	CCDS2182.1																																																																																				0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		19	49	0	0	0	1	0	19	49				
PMS2P4	5382	broad.mit.edu	37	7	66767852	66767852	+	RNA	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:66767852C>T	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		CGGCCCAGCGCCCGGCGTTGG	0.726																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														64940							g.chr7:66767852C>T	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767852C>T								NR_040586.1		Q8TBR4	STG34_HUMAN			0	245	+		Lung NSC(55;0.0839)|all_lung(88;0.181)							RNA	SNP	ENST00000414507.1	37																																																																																						0.726	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		6	9	0	0	0	1	0	6	9				
FAM160B1	57700	broad.mit.edu	37	10	116603660	116603660	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:116603660C>T	ENST00000369248.4	+	7	1312	c.977C>T	c.(976-978)cCg>cTg	p.P326L	FAM160B1_ENST00000369250.3_Missense_Mutation_p.P326L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	326										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TCAGTGGATCCGTTAGATATT	0.458																																						ENST00000369248.4																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(976-978)cCg>cTg		family with sequence similarity 160, member B1							124.0	111.0	115.0					10																	116603660		2203	4300	6503	SO:0001583	missense	57700							g.chr10:116603660C>T	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.977C>T	10.37:g.116603660C>T	ENSP00000358251:p.Pro326Leu					FAM160B1_ENST00000369250.3_Missense_Mutation_p.P326L	p.P326L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN			7	1312	+			326					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.977C>T	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	c	34	5.349007	0.95807	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.64618	-0.11;-0.11	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.81034	0.4739	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.81758	-0.0786	10	0.62326	D	0.03	-16.7284	19.8604	0.96781	0.0:1.0:0.0:0.0	.	326;326	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	L	326	ENSP00000358251:P326L;ENSP00000358253:P326L	ENSP00000358251:P326L	P	+	2	0	FAM160B1	116593650	1.000000	0.71417	0.929000	0.37066	0.985000	0.73830	7.699000	0.84547	2.707000	0.92482	0.651000	0.88453	CCG		0.458	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		26	103	0	0	0	1	0	26	103				
OR2T6	254879	broad.mit.edu	37	1	248551319	248551319	+	Missense_Mutation	SNP	G	G	A	rs2226010		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:248551319G>A	ENST00000355728.2	+	1	410	c.410G>A	c.(409-411)aGc>aAc	p.S137N		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCCTCATCAGCTGGCGGGTC	0.577																																						ENST00000355728.2																			0				endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(409-411)aGc>aAc		olfactory receptor, family 2, subfamily T, member 6							82.0	79.0	80.0					1																	248551319		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551319G>A	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.410G>A	1.37:g.248551319G>A	ENSP00000347965:p.Ser137Asn						p.S137N	NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	410	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		137					A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.410G>A	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.931193	0.00488	.	.	ENSG00000198104	ENST00000355728	T	0.38887	1.11	4.19	0.548	0.17208	GPCR, rhodopsin-like superfamily (1);	0.404326	0.21568	N	0.072456	T	0.20047	0.0482	N	0.20845	0.615	0.09310	N	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.19976	-1.0289	10	0.10636	T	0.68	.	5.6537	0.17631	0.309:0.1413:0.5497:0.0	.	137	Q8NHC8	OR2T6_HUMAN	N	137	ENSP00000347965:S137N	ENSP00000347965:S137N	S	+	2	0	OR2T6	246617942	0.000000	0.05858	0.057000	0.19452	0.024000	0.10985	-1.551000	0.02178	0.349000	0.23975	0.643000	0.83706	AGC		0.577	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		19	64	0	0	0	1	0	19	64				
SPRED2	200734	broad.mit.edu	37	2	65561814	65561814	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:65561814G>A	ENST00000356388.4	-	3	487	c.298C>T	c.(298-300)Ctt>Ttt	p.L100F	SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Missense_Mutation_p.L97F	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	100	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.L100F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TGGAAAGTAAGTCCAAACTTC	0.448																																						ENST00000356388.4																			1	Substitution - Missense(1)	p.L100F(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(298-300)Ctt>Ttt		sprouty-related, EVH1 domain containing 2							195.0	182.0	186.0					2																	65561814		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65561814G>A	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.298C>T	2.37:g.65561814G>A	ENSP00000348753:p.Leu100Phe					SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Missense_Mutation_p.L97F	p.L100F	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			3	487	-			100			WH1.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.298C>T	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774684	0.90108	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087;ENST00000440972	D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35	5.28	5.28	0.74379	EVH1 (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.97604	0.9215	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98510	1.0618	10	0.87932	D	0	-9.2834	18.8971	0.92427	0.0:0.0:1.0:0.0	.	97;100	E9PEP0;Q7Z698	.;SPRE2_HUMAN	F	100;97;115;32;100	ENSP00000348753:L100F;ENSP00000393697:L97F;ENSP00000390595:L115F;ENSP00000407627:L32F;ENSP00000406481:L100F	ENSP00000348753:L100F	L	-	1	0	SPRED2	65415318	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.009000	0.88606	2.471000	0.83476	0.655000	0.94253	CTT		0.448	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			47	147	0	0	0	1	0	47	147				
PLA2G4F	255189	broad.mit.edu	37	15	42436233	42436233	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:42436233A>G	ENST00000382396.4	-	18	2171	c.2085T>C	c.(2083-2085)ccT>ccC	p.P695P	PLA2G4F_ENST00000397272.3_Silent_p.P697P			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	695	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTGCTCTCTGAGGCAGCAGAG	0.602																																						ENST00000397272.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2089-2091)ccT>ccC		phospholipase A2, group IVF							96.0	89.0	91.0					15																	42436233		2203	4299	6502	SO:0001819	synonymous_variant	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42436233A>G		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2085T>C	15.37:g.42436233A>G						PLA2G4F_ENST00000382396.4_Silent_p.P695P	p.P697P	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	18	2182	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	695			PLA2c.		Q6ZMC8	Silent	SNP	ENST00000382396.4	37	c.2091T>C	CCDS32204.1																																																																																				0.602	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		25	104	0	0	0	1	0	25	104				
TTN	7273	broad.mit.edu	37	2	179429620	179429620	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179429620A>G	ENST00000591111.1	-	276	76540	c.76316T>C	c.(76315-76317)tTt>tCt	p.F25439S	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F24512S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F27080S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F18140S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F18207S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F18015S|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25439	Fibronectin type-III 85. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATGTCACAAAAGGAGTTCC	0.403																																						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.(81238-81240)tTt>tCt		titin							78.0	76.0	77.0					2																	179429620		1873	4104	5977	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179429620A>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.76316T>C	2.37:g.179429620A>G	ENSP00000465570:p.Phe25439Ser					TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F18015S|TTN_ENST00000342992.6_Missense_Mutation_p.F24512S|TTN_ENST00000591111.1_Missense_Mutation_p.F25439S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F18140S|TTN_ENST00000342175.6_Missense_Mutation_p.F18207S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.F27080S	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)		326	81463	-			25439			Fibronectin type-III 97.		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.81239T>C		.	.	.	.	.	.	.	.	.	.	A	11.04	1.522114	0.27211	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	6.02	6.02	0.97574	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.34308	0.0893	N	0.20574	0.59	0.36756	D	0.883034	P;P;P;B	0.34864	0.473;0.473;0.473;0.326	B;B;B;B	0.31812	0.136;0.136;0.136;0.096	T	0.48163	-0.9059	9	0.87932	D	0	.	13.5207	0.61566	0.8704:0.1296:0.0:0.0	.	18015;18140;18207;25439	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	24512;18015;18207;18140;18013	ENSP00000343764:F24512S;ENSP00000434586:F18015S;ENSP00000340554:F18207S;ENSP00000352154:F18140S	ENSP00000340554:F18207S	F	-	2	0	TTN	179137866	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.238000	0.65366	2.304000	0.77564	0.528000	0.53228	TTT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	56	0	0	0	1	0	16	56				
PCDHGA6	56109	broad.mit.edu	37	5	140754749	140754749	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140754749G>A	ENST00000517434.1	+	1	1099	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	367	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGTAATCGCCCTTTTTCA	0.433																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(1099-1101)Gcc>Acc									91.0	92.0	92.0					5																	140754749		1910	4136	6046	SO:0001583	missense	56109							g.chr5:140754749G>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1099G>A	5.37:g.140754749G>A	ENSP00000429601:p.Ala367Thr					PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	p.A367T	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1099	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.1099G>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	11.61	1.691267	0.30052	.	.	ENSG00000253731	ENST00000517434	T	0.52754	0.65	5.25	0.541	0.17168	Cadherin (3);Cadherin-like (1);	0.304735	0.17292	U	0.179590	T	0.56615	0.1997	M	0.73962	2.25	0.09310	N	1	P;D	0.54047	0.92;0.964	B;P	0.53593	0.366;0.73	T	0.52011	-0.8632	10	0.59425	D	0.04	.	10.4838	0.44708	0.336:0.0:0.664:0.0	.	367;367	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	T	367	ENSP00000429601:A367T	ENSP00000429601:A367T	A	+	1	0	PCDHGA6	140734933	0.006000	0.16342	0.129000	0.21949	0.038000	0.13279	0.865000	0.27940	0.176000	0.19873	-0.140000	0.14226	GCC		0.433	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		35	114	0	0	0	1	0	35	114				
PAN2	9924	broad.mit.edu	37	12	56716461	56716461	+	Missense_Mutation	SNP	G	G	A	rs192249493	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56716461G>A	ENST00000425394.2	-	18	2963	c.2587C>T	c.(2587-2589)Cgc>Tgc	p.R863C	PAN2_ENST00000548043.1_Missense_Mutation_p.R863C|PAN2_ENST00000257931.5_Missense_Mutation_p.R862C|PAN2_ENST00000440411.3_Missense_Mutation_p.R859C	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			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					Vitamin A(DB00162)	CCCCCTGTGCGTGAGTCCAGG	0.592													G|||	3	0.000599042	0.0	0.0014	5008	,	,		17263	0.0		0.002	False		,,,				2504	0.0					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.(2587-2589)Cgc>Tgc		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)		G	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	106.0	88.0	94.0		2587,2584,2575	5.2	1.0	12		94	0,8600		0,0,4300	no	missense,missense,missense	PAN2	NM_001127460.2,NM_001166279.1,NM_014871.4	180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	863/1203,862/1202,859/1199	56716461	1,13005	2203	4300	6503	SO:0001583	missense	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.chr12:56716461G>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2587C>T	12.37:g.56716461G>A	ENSP00000401721:p.Arg863Cys					PAN2_ENST00000257931.5_Missense_Mutation_p.R862C|PAN2_ENST00000548043.1_Missense_Mutation_p.R863C|PAN2_ENST00000440411.3_Missense_Mutation_p.R859C	p.R863C	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			18	2963	-			863						Missense_Mutation	SNP	ENST00000425394.2	37	c.2587C>T	CCDS44922.1	4	0.0018315018315018315	1	0.0020325203252032522	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	21.5	4.161074	0.78226	2.27E-4	0.0	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.05382	3.45;3.45;3.45;3.45	5.24	5.24	0.73138	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.17746	0.0426	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.67725	0.95;0.922;0.953	T	0.00077	-1.2116	10	0.56958	D	0.05	-11.7652	17.9814	0.89143	0.0:0.0:1.0:0.0	.	862;859;863	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	C	863;859;862;863	ENSP00000401721:R863C;ENSP00000388231:R859C;ENSP00000257931:R862C;ENSP00000449861:R863C	ENSP00000257931:R862C	R	-	1	0	PAN2	55002728	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.257000	0.95545	2.631000	0.89168	0.305000	0.20034	CGC		0.592	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		50	86	0	0	0	1	0	50	86				
SLC16A7	9194	broad.mit.edu	37	12	60173352	60173352	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:60173352G>C	ENST00000261187.4	+	5	1493	c.1329G>C	c.(1327-1329)caG>caC	p.Q443H	SLC16A7_ENST00000552024.1_Missense_Mutation_p.Q443H|SLC16A7_ENST00000547379.1_Missense_Mutation_p.Q443H|SLC16A7_ENST00000552432.1_Missense_Mutation_p.Q443H|SLC16A7_ENST00000543448.1_Missense_Mutation_p.Q344H	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	443					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	ATGCAAGGCAGAAGACCAGAG	0.433																																						ENST00000261187.4																			0				endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(1327-1329)caG>caC		solute carrier family 16 (monocarboxylate transporter), member 7	Pyruvic acid(DB00119)						95.0	81.0	86.0					12																	60173352		2203	4300	6503	SO:0001583	missense	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60173352G>C	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1329G>C	12.37:g.60173352G>C	ENSP00000261187:p.Gln443His					SLC16A7_ENST00000552432.1_Missense_Mutation_p.Q443H|SLC16A7_ENST00000547379.1_Missense_Mutation_p.Q443H|SLC16A7_ENST00000543448.1_Missense_Mutation_p.Q344H|SLC16A7_ENST00000552024.1_Missense_Mutation_p.Q443H	p.Q443H	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	5	1493	+			443					Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	c.1329G>C	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	8.242	0.807034	0.16467	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000261187;ENST00000543448	T;T;T;T;T	0.18338	2.35;2.35;2.35;2.35;2.22	3.72	3.72	0.42706	.	0.783359	0.12374	N	0.474466	T	0.09949	0.0244	N	0.12746	0.255	0.18873	N	0.999984	B	0.10296	0.003	B	0.10450	0.005	T	0.26467	-1.0102	9	.	.	.	.	11.1593	0.48505	0.0:0.0:0.8155:0.1845	.	443	O60669	MOT2_HUMAN	H	443;443;443;443;344	ENSP00000449547:Q443H;ENSP00000448071:Q443H;ENSP00000448742:Q443H;ENSP00000261187:Q443H;ENSP00000443731:Q344H	.	Q	+	3	2	SLC16A7	58459619	0.493000	0.26035	0.012000	0.15200	0.003000	0.03518	1.554000	0.36266	1.754000	0.51921	0.467000	0.42956	CAG		0.433	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		15	26	0	0	0	1	0	15	26				
KIF11	3832	broad.mit.edu	37	10	94353185	94353185	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:94353185A>G	ENST00000260731.3	+	1	143	c.53A>G	c.(52-54)aAc>aGc	p.N18S		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	18	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGGGGAAGAACATCCAGGTG	0.637																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(52-54)aAc>aGc		kinesin family member 11							73.0	64.0	67.0					10																	94353185		2203	4300	6503	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94353185A>G	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.53A>G	10.37:g.94353185A>G	ENSP00000260731:p.Asn18Ser						p.N18S	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			1	143	+			18			Kinesin-motor.		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.53A>G	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.336255	0.81801	.	.	ENSG00000138160	ENST00000260731	D	0.86164	-2.08	4.9	3.74	0.42951	Kinesin, motor domain (3);	0.050820	0.85682	D	0.000000	D	0.89581	0.6756	L	0.50993	1.605	0.58432	D	0.999997	D	0.89917	1.0	D	0.68765	0.96	D	0.88058	0.2792	10	0.46703	T	0.11	.	9.7554	0.40500	0.8258:0.1742:0.0:0.0	.	18	P52732	KIF11_HUMAN	S	18	ENSP00000260731:N18S	ENSP00000260731:N18S	N	+	2	0	KIF11	94343165	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.681000	0.61663	0.978000	0.38470	0.459000	0.35465	AAC		0.637	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		7	31	0	0	0	1	0	7	31				
HDAC3	8841	broad.mit.edu	37	5	141009296	141009296	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:141009296A>G	ENST00000305264.3	-	6	510	c.431T>C	c.(430-432)tTc>tCc	p.F144S		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	144	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GACATAGCAGAAGCCAGAGGC	0.542																																						ENST00000305264.3																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13						c.(430-432)tTc>tCc		histone deacetylase 3	Vorinostat(DB02546)						95.0	89.0	91.0					5																	141009296		2203	4300	6503	SO:0001583	missense	8841				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding	g.chr5:141009296A>G	AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.431T>C	5.37:g.141009296A>G	ENSP00000302967:p.Phe144Ser						p.F144S	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	510	-			144			Histone deacetylase.		D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	ENST00000305264.3	37	c.431T>C	CCDS4264.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448376	0.84101	.	.	ENSG00000171720	ENST00000305264;ENST00000523088	D;D	0.88431	-2.38;-2.38	5.72	5.72	0.89469	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98448	1.0590	10	0.87932	D	0	-11.0467	15.6646	0.77217	1.0:0.0:0.0:0.0	.	69;144	E7ESJ6;O15379	.;HDAC3_HUMAN	S	144;69	ENSP00000302967:F144S;ENSP00000429099:F69S	ENSP00000302967:F144S	F	-	2	0	HDAC3	140989480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.310000	0.96267	2.187000	0.69744	0.528000	0.53228	TTC		0.542	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251824.2	NM_003883		8	154	0	0	0	1	0	8	154				
OR52J3	119679	broad.mit.edu	37	11	5067889	5067889	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:5067889C>T	ENST00000380370.1	+	1	134	c.134C>T	c.(133-135)gCc>gTc	p.A45V		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGGGCAATGCCACCATTCTG	0.493																																						ENST00000380370.1																			0				NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36						c.(133-135)gCc>gTc		olfactory receptor, family 52, subfamily J, member 3							92.0	86.0	88.0					11																	5067889		2201	4298	6499	SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5067889C>T	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.134C>T	11.37:g.5067889C>T	ENSP00000369728:p.Ala45Val						p.A45V	NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	134	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	45					Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	c.134C>T	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	C	2.275	-0.366037	0.05069	.	.	ENSG00000205495	ENST00000380370	T	0.00949	5.51	4.19	-1.65	0.08291	GPCR, rhodopsin-like superfamily (1);	1.199940	0.06220	N	0.686664	T	0.00608	0.0020	N	0.10685	0.025	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.45687	-0.9244	10	0.11182	T	0.66	.	6.3068	0.21143	0.0:0.2295:0.1507:0.6198	.	45	Q8NH60	O52J3_HUMAN	V	45	ENSP00000369728:A45V	ENSP00000369728:A45V	A	+	2	0	OR52J3	5024465	0.000000	0.05858	0.004000	0.12327	0.483000	0.33249	-0.638000	0.05452	-0.207000	0.10187	0.655000	0.94253	GCC		0.493	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		19	65	0	0	0	1	0	19	65				
CAMTA1	23261	broad.mit.edu	37	1	7700509	7700509	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:7700509A>G	ENST00000303635.7	+	7	767	c.560A>G	c.(559-561)gAc>gGc	p.D187G	CAMTA1_ENST00000439411.2_Missense_Mutation_p.D187G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCCATCGAGGACTGCGGCAAG	0.612			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(559-561)gAc>gGc		calmodulin binding transcription activator 1							145.0	117.0	127.0					1																	7700509		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7700509A>G	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.560A>G	1.37:g.7700509A>G	ENSP00000306522:p.Asp187Gly					CAMTA1_ENST00000439411.2_Missense_Mutation_p.D187G	p.D187G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	7	767	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	187					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.560A>G	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.980688	0.92982	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.36878	1.23;1.23	5.36	5.36	0.76844	CG-1 (1);	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.52071	-0.8624	10	0.72032	D	0.01	-27.7306	15.3622	0.74487	1.0:0.0:0.0:0.0	.	187	Q9Y6Y1	CMTA1_HUMAN	G	187	ENSP00000306522:D187G;ENSP00000402561:D187G	ENSP00000306522:D187G	D	+	2	0	CAMTA1	7623096	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.241000	0.95402	2.028000	0.59812	0.379000	0.24179	GAC		0.612	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		4	142	0	0	0	1	0	4	142				
DDX59	83479	broad.mit.edu	37	1	200635318	200635318	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:200635318T>C	ENST00000331314.6	-	2	764	c.551A>G	c.(550-552)aAt>aGt	p.N184S	DDX59_ENST00000367348.3_Missense_Mutation_p.N184S|DDX59_ENST00000447706.2_Missense_Mutation_p.N184S	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	184						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CTGTTTAAGATTTTCAATCTG	0.433																																						ENST00000447706.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(550-552)aAt>aGt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							97.0	101.0	99.0					1																	200635318		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200635318T>C	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.551A>G	1.37:g.200635318T>C	ENSP00000330460:p.Asn184Ser					DDX59_ENST00000331314.6_Missense_Mutation_p.N184S|DDX59_ENST00000367348.3_Missense_Mutation_p.N184S	p.N184S			Q5T1V6	DDX59_HUMAN			2	702	-			184					Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.551A>G	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	T	6.549	0.469538	0.12461	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314	T;T;T	0.29917	1.55;1.55;1.92	5.33	4.18	0.49190	.	0.287831	0.40469	N	0.001093	T	0.20941	0.0504	L	0.31664	0.95	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.13407	0.009;0.005	T	0.19679	-1.0298	10	0.13108	T	0.6	-15.9687	12.1679	0.54141	0.0:0.0:0.1483:0.8517	.	184;184	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	S	184	ENSP00000394367:N184S;ENSP00000356317:N184S;ENSP00000330460:N184S	ENSP00000330460:N184S	N	-	2	0	DDX59	198901941	0.680000	0.27605	0.076000	0.20297	0.994000	0.84299	2.740000	0.47418	0.847000	0.35167	0.529000	0.55759	AAT		0.433	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		7	159	0	0	0	1	0	7	159				
INPP5D	3635	broad.mit.edu	37	2	233944059	233944059	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:233944059T>C	ENST00000359570.5	+	2	149	c.149T>C	c.(148-150)gTt>gCt	p.V50A	INPP5D_ENST00000538935.1_Missense_Mutation_p.V50A			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	50	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CGGAATTGCGTTTACACTTAC	0.408																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(148-150)gTt>gCt		inositol polyphosphate-5-phosphatase, 145kDa							85.0	82.0	83.0					2																	233944059		1853	4111	5964	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:233944059T>C	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.149T>C	2.37:g.233944059T>C	ENSP00000352575:p.Val50Ala					INPP5D_ENST00000538935.1_Missense_Mutation_p.V50A	p.V50A			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	2	149	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	50			SH2.		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.149T>C		.	.	.	.	.	.	.	.	.	.	T	16.14	3.038850	0.55003	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	6.04	6.04	0.98038	SH2 motif (4);	0.114051	0.64402	D	0.000016	D	0.94886	0.8347	.	.	.	0.29960	N	0.819432	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	D	0.92723	0.6193	9	0.87932	D	0	.	13.0193	0.58777	0.0:0.0:0.0:1.0	.	50;50	Q92835-2;Q92835	.;SHIP1_HUMAN	A	50	ENSP00000409018:V50A;ENSP00000415253:V50A;ENSP00000352575:V50A;ENSP00000441010:V50A	ENSP00000352575:V50A	V	+	2	0	INPP5D	233652303	0.999000	0.42202	0.387000	0.26183	0.406000	0.30931	4.126000	0.57937	2.330000	0.79161	0.529000	0.55759	GTT		0.408	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		9	63	0	0	0	1	0	9	63				
RP11-159L20.2	0	broad.mit.edu	37	14	31290756	31290756	+	RNA	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:31290756G>A	ENST00000554665.1	-	0	208																											CGCCCCTACAGCCATGCCCTG	0.498																																						ENST00000554665.1																			0																																																			0							g.chr14:31290756G>A																													14.37:g.31290756G>A														0	208	-									RNA	SNP	ENST00000554665.1	37																																																																																						0.498	RP11-159L20.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000409699.1			27	54	0	0	0	1	0	27	54				
OSBPL5	114879	broad.mit.edu	37	11	3141689	3141689	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:3141689G>A	ENST00000263650.7	-	6	727	c.568C>T	c.(568-570)Ctc>Ttc	p.L190F	OSBPL5_ENST00000525498.1_Intron|OSBPL5_ENST00000389989.3_Intron|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Intron	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	190	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGGTGGAAGAGCTTGAAGCAG	0.647																																						ENST00000263650.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(568-570)Ctc>Ttc		oxysterol binding protein-like 5							55.0	45.0	48.0					11																	3141689		2202	4298	6500	SO:0001583	missense	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3141689G>A	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.568C>T	11.37:g.3141689G>A	ENSP00000263650:p.Leu190Phe					OSBPL5_ENST00000348039.5_Intron|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000525498.1_Intron|OSBPL5_ENST00000389989.3_Intron	p.L190F	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	6	727	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	190			PH.		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	ENST00000263650.7	37	c.568C>T	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065174	0.93898	.	.	ENSG00000021762	ENST00000263650	T	0.78924	-1.22	4.38	4.38	0.52667	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.174032	0.38897	N	0.001523	D	0.84683	0.5526	L	0.46741	1.465	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	D	0.86757	0.1964	10	0.87932	D	0	-1.0359	17.1706	0.86828	0.0:0.0:1.0:0.0	.	151;190	E7EP03;Q9H0X9	.;OSBL5_HUMAN	F	190	ENSP00000263650:L190F	ENSP00000263650:L190F	L	-	1	0	OSBPL5	3098265	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.050000	0.76620	2.285000	0.76669	0.555000	0.69702	CTC		0.647	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			13	56	0	0	0	1	0	13	56				
FAT3	120114	broad.mit.edu	37	11	92085904	92085904	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:92085904C>T	ENST00000298047.6	+	1	643	c.626C>T	c.(625-627)aCg>aTg	p.T209M	FAT3_ENST00000525166.1_Missense_Mutation_p.T59M|FAT3_ENST00000409404.2_Missense_Mutation_p.T209M|FAT3_ENST00000541502.1_Missense_Mutation_p.T209M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	209	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTTCACCCCACGAGTGGTGTC	0.408										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(625-627)aCg>aTg		FAT atypical cadherin 3							76.0	71.0	73.0					11																	92085904		1834	4095	5929	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085904C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.626C>T	11.37:g.92085904C>T	ENSP00000298047:p.Thr209Met	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.T209M|FAT3_ENST00000541502.1_Missense_Mutation_p.T209M|FAT3_ENST00000525166.1_Missense_Mutation_p.T59M	p.T209M			Q8TDW7	FAT3_HUMAN			1	643	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	209			Cadherin 2.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.626C>T		.	.	.	.	.	.	.	.	.	.	C	19.55	3.848590	0.71603	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.26	5.26	0.73747	.	.	.	.	.	T	0.69115	0.3075	M	0.70903	2.155	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.70956	-0.4731	9	0.59425	D	0.04	.	18.2264	0.89918	0.0:1.0:0.0:0.0	.	209	Q8TDW7-3	.	M	209;209;209;59	ENSP00000298047:T209M;ENSP00000387040:T209M;ENSP00000443786:T209M;ENSP00000432586:T59M	ENSP00000298047:T209M	T	+	2	0	FAT3	91725552	1.000000	0.71417	0.973000	0.42090	0.994000	0.84299	7.755000	0.85180	2.607000	0.88179	0.655000	0.94253	ACG		0.408	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		25	57	0	0	0	1	0	25	57				
DNMBP	23268	broad.mit.edu	37	10	101716889	101716889	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:101716889G>A	ENST00000324109.4	-	4	433	c.342C>T	c.(340-342)ggC>ggT	p.G114G	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Silent_p.G114G	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	114	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATGGGAAGAAGCCCCGTGCGC	0.592																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(340-342)ggC>ggT		dynamin binding protein							24.0	26.0	25.0					10																	101716889		2203	4300	6503	SO:0001819	synonymous_variant	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101716889G>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.342C>T	10.37:g.101716889G>A						DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Silent_p.G114G	p.G114G			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	433	-		Colorectal(252;0.234)	114			SH3 2.		Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	c.342C>T	CCDS7485.1																																																																																				0.592	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		14	56	0	0	0	1	0	14	56				
TPI1	7167	broad.mit.edu	37	12	6979496	6979496	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:6979496T>C	ENST00000229270.4	+	7	1147	c.810T>C	c.(808-810)ggT>ggC	p.G270G	TPI1_ENST00000488464.2_Silent_p.G151G|TPI1_ENST00000396705.5_Silent_p.G233G|TPI1_ENST00000535434.1_Silent_p.G151G	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	270					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						TCCTTGTGGGTGGTGCTTCCC	0.577											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000229270.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						c.(808-810)ggT>ggC		triosephosphate isomerase 1							80.0	70.0	73.0					12																	6979496		2203	4300	6503	SO:0001819	synonymous_variant	7167				fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	g.chr12:6979496T>C		CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.810T>C	12.37:g.6979496T>C			OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	TPI1_ENST00000488464.2_Silent_p.G151G|TPI1_ENST00000535434.1_Silent_p.G151G|TPI1_ENST00000396705.5_Silent_p.G233G	p.G270G	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN			7	1147	+			233					B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Silent	SNP	ENST00000229270.4	37	c.810T>C	CCDS53740.1																																																																																				0.577	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	NM_000365		32	76	0	0	0	1	0	32	76				
MGAT1	4245	broad.mit.edu	37	5	180219557	180219557	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:180219557C>T	ENST00000446023.2	-	3	1165	c.415G>A	c.(415-417)Gtt>Att	p.V139I	MGAT1_ENST00000307826.4_Missense_Mutation_p.V139I|MGAT1_ENST00000393340.3_Missense_Mutation_p.V139I|MGAT1_ENST00000333055.3_Missense_Mutation_p.V139I|MGAT1_ENST00000427865.2_Missense_Mutation_p.V139I	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	139					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTGGCTAACGATGATGGGG	0.652																																						ENST00000446023.2																			0				endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13						c.(415-417)Gtt>Att		mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							40.0	38.0	39.0					5																	180219557		2203	4300	6503	SO:0001583	missense	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180219557C>T	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.415G>A	5.37:g.180219557C>T	ENSP00000404718:p.Val139Ile					MGAT1_ENST00000393340.3_Missense_Mutation_p.V139I|MGAT1_ENST00000333055.3_Missense_Mutation_p.V139I|MGAT1_ENST00000427865.2_Missense_Mutation_p.V139I|MGAT1_ENST00000307826.4_Missense_Mutation_p.V139I	p.V139I	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	1165	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	139					A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	c.415G>A	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966392	0.74131	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000427865;ENST00000504671;ENST00000506889	D;D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	4.5	4.5	0.54988	.	0.137146	0.48286	D	0.000199	D	0.85754	0.5770	L	0.45228	1.405	0.80722	D	1	D	0.63880	0.993	P	0.48189	0.57	D	0.87158	0.2213	10	0.56958	D	0.05	-29.6669	15.0855	0.72148	0.0:1.0:0.0:0.0	.	139	P26572	MGAT1_HUMAN	I	139	ENSP00000332073:V139I;ENSP00000311888:V139I;ENSP00000404718:V139I;ENSP00000377010:V139I;ENSP00000402838:V139I;ENSP00000424891:V139I;ENSP00000425988:V139I	ENSP00000311888:V139I	V	-	1	0	MGAT1	180152163	1.000000	0.71417	0.997000	0.53966	0.573000	0.36030	5.211000	0.65219	2.502000	0.84385	0.462000	0.41574	GTT		0.652	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		16	75	0	0	0	1	0	16	75				
ASXL2	55252	broad.mit.edu	37	2	25967275	25967275	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:25967275A>G	ENST00000435504.4	-	13	2224	c.1931T>C	c.(1930-1932)gTc>gCc	p.V644A	ASXL2_ENST00000272341.4_Missense_Mutation_p.V384A|ASXL2_ENST00000404843.1_Missense_Mutation_p.V384A|ASXL2_ENST00000336112.4_Missense_Mutation_p.V616A			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	644					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGATGGAGACTGGAAAACG	0.527																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(1930-1932)gTc>gCc		additional sex combs like 2 (Drosophila)							59.0	57.0	58.0					2																	25967275		1908	4124	6032	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25967275A>G			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1931T>C	2.37:g.25967275A>G	ENSP00000391447:p.Val644Ala					ASXL2_ENST00000272341.4_Missense_Mutation_p.V384A|ASXL2_ENST00000336112.4_Missense_Mutation_p.V616A|ASXL2_ENST00000404843.1_Missense_Mutation_p.V384A	p.V644A			Q76L83	ASXL2_HUMAN			13	2224	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		644					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.1931T>C		.	.	.	.	.	.	.	.	.	.	A	10.81	1.454822	0.26161	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.9	4.77	0.60923	.	0.546239	0.19697	N	0.108126	T	0.14270	0.0345	N	0.03608	-0.345	0.33892	D	0.637516	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.30592	-0.9973	10	0.02654	T	1	-0.241	4.0028	0.09587	0.7384:0.0:0.2616:0.0	.	384;644	Q76L83-2;Q76L83	.;ASXL2_HUMAN	A	644;616;384;384	ENSP00000391447:V644A;ENSP00000337250:V616A;ENSP00000383920:V384A;ENSP00000272341:V384A	ENSP00000272341:V384A	V	-	2	0	ASXL2	25820779	1.000000	0.71417	0.970000	0.41538	0.991000	0.79684	3.483000	0.53194	2.248000	0.74166	0.460000	0.39030	GTC		0.527	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		23	61	0	0	0	1	0	23	61				
PRKAB1	5564	broad.mit.edu	37	12	120112225	120112225	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:120112225A>G	ENST00000229328.5	+	4	990	c.498A>G	c.(496-498)ttA>ttG	p.L166L	PRKAB1_ENST00000541640.1_Silent_p.L166L|PRKAB1_ENST00000540121.1_5'UTR	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	166					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase activity (GO:0004672)			endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	TTGATGCTTTAATGGTGGATT	0.438																																						ENST00000229328.5																			0				endometrium(2)|large_intestine(3)|lung(5)	10						c.(496-498)ttA>ttG		protein kinase, AMP-activated, beta 1 non-catalytic subunit	Adenosine monophosphate(DB00131)|Metformin(DB00331)						155.0	140.0	145.0					12																	120112225		2203	4300	6503	SO:0001819	synonymous_variant	5564				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		g.chr12:120112225A>G	BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725			9378	protein-coding gene	gene with protein product	"""AMPK beta 1"""	602740				8557660	Standard	NM_006253		Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000229328.5:c.498A>G	12.37:g.120112225A>G						PRKAB1_ENST00000541640.1_Silent_p.L166L|PRKAB1_ENST00000540121.1_5'UTR	p.L166L	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.166)	4	990	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		166					Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	Silent	SNP	ENST00000229328.5	37	c.498A>G	CCDS9191.1																																																																																				0.438	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401731.2	NM_006253		18	105	0	0	0	1	0	18	105				
TTYH1	57348	broad.mit.edu	37	19	54930385	54930385	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54930385C>T	ENST00000376530.3	+	2	313	c.210C>T	c.(208-210)tgC>tgT	p.C70C	TTYH1_ENST00000376531.3_Silent_p.C70C|TTYH1_ENST00000301194.4_Silent_p.C70C|TTYH1_ENST00000391739.3_Silent_p.C119C	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	70					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TCCGCTTCTGCTGCTGCCGGC	0.682																																						ENST00000301194.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(208-210)tgC>tgT		tweety family member 1							45.0	50.0	48.0					19																	54930385		2203	4299	6502	SO:0001819	synonymous_variant	57348				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	g.chr19:54930385C>T	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.210C>T	19.37:g.54930385C>T						TTYH1_ENST00000391739.3_Silent_p.C119C|TTYH1_ENST00000376530.3_Silent_p.C70C|TTYH1_ENST00000376531.3_Silent_p.C70C	p.C70C			Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)	2	332	+	Ovarian(34;0.19)		70					B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Silent	SNP	ENST00000376530.3	37	c.210C>T	CCDS12893.1																																																																																				0.682	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1			19	133	0	0	0	1	0	19	133				
RPGR	6103	broad.mit.edu	37	X	38129023	38129023	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:38129023C>T	ENST00000339363.3	-	18	3086	c.2919G>A	c.(2917-2919)ccG>ccA	p.P973P	RPGR_ENST00000338898.3_3'UTR|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Silent_p.P768P|RPGR_ENST00000309513.3_Silent_p.P706P			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	973					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)	p.P768P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCTCTGGGAGCGGCTCATTGT	0.358																																						ENST00000339363.3																			1	Substitution - coding silent(1)	p.P768P(1)	endometrium(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(2917-2919)ccG>ccA		retinitis pigmentosa GTPase regulator							95.0	84.0	88.0					X																	38129023		2202	4300	6502	SO:0001819	synonymous_variant	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38129023C>T	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2919G>A	X.37:g.38129023C>T						RPGR_ENST00000309513.3_Silent_p.P706P|RPGR_ENST00000338898.3_3'UTR|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Silent_p.P768P	p.P973P			Q92834	RPGR_HUMAN			18	3086	-			973					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Silent	SNP	ENST00000339363.3	37	c.2919G>A																																																																																					0.358	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		21	20	0	0	0	1	0	21	20				
TTN	7273	broad.mit.edu	37	2	179426382	179426382	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179426382A>G	ENST00000591111.1	-	276	79778	c.79554T>C	c.(79552-79554)ggT>ggC	p.G26518G	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.G25591G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.G28159G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.G19219G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.G19286G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.G19094G|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26518	Fibronectin type-III 93. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTAGGAGTACCAGGAGGAC	0.463																																						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.(84475-84477)ggT>ggC		titin							85.0	83.0	84.0					2																	179426382		1896	4113	6009	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179426382A>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.79554T>C	2.37:g.179426382A>G						TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.G19094G|TTN_ENST00000342992.6_Silent_p.G25591G|TTN_ENST00000591111.1_Silent_p.G26518G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.G19219G|TTN_ENST00000342175.6_Silent_p.G19286G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.G28159G	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)		326	84701	-			26518			Fibronectin type-III 105.		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	Silent	SNP	ENST00000591111.1	37	c.84477T>C																																																																																					0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	28	0	0	0	1	0	12	28				
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		ATAAAGTATATGATTTTGTGT	0.348													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0					ENST00000426066.1																			0																																																			96610							g.chr22:22664056T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664056T>C								NR_027293.1						0	623	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			15	45	0	0	0	1	0	15	45				
RSPH4A	345895	broad.mit.edu	37	6	116948931	116948931	+	Missense_Mutation	SNP	G	G	A	rs367712020		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:116948931G>A	ENST00000229554.5	+	3	1198	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	RSPH4A_ENST00000368581.4_Missense_Mutation_p.R354H|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	354					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAAAGATGCCGCTTCTGGGGA	0.448									Kartagener syndrome																													ENST00000229554.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1060-1062)cGc>cAc		radial spoke head 4 homolog A (Chlamydomonas)		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	96.0	97.0	96.0		1061,1061	4.6	1.0	6		96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RSPH4A	NM_001010892.2,NM_001161664.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	354/717,354/601	116948931	1,13005	2203	4300	6503	SO:0001583	missense	345895	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116948931G>A		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1061G>A	6.37:g.116948931G>A	ENSP00000229554:p.Arg354His					RSPH4A_ENST00000368581.4_Missense_Mutation_p.R354H|RSPH4A_ENST00000368580.4_Intron	p.R354H	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN			3	1198	+			354					B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	c.1061G>A	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011374	0.75046	0.0	1.16E-4	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	T;T	0.34859	1.34;1.34	5.48	4.61	0.57282	.	0.110202	0.64402	N	0.000009	T	0.37156	0.0993	M	0.75264	2.295	0.58432	D	0.999997	D;P	0.65815	0.995;0.798	P;B	0.54815	0.761;0.229	T	0.38067	-0.9678	10	0.54805	T	0.06	-3.2385	8.3999	0.32579	0.1766:0.0:0.8234:0.0	.	354;354	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	H	354;354;149	ENSP00000357570:R354H;ENSP00000229554:R354H	ENSP00000229554:R354H	R	+	2	0	RSPH4A	117055624	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.678000	0.84035	1.294000	0.44707	0.591000	0.81541	CGC		0.448	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		15	114	0	0	0	1	0	15	114				
ALPPL2	251	broad.mit.edu	37	2	233274406	233274406	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:233274406A>T	ENST00000295453.3	+	11	1475	c.1423A>T	c.(1423-1425)Acc>Tcc	p.T475S		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	475					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	GCAGGAGCAGACCTTCATAGC	0.741																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(1423-1425)Acc>Tcc		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						16.0	19.0	18.0					2																	233274406		2189	4275	6464	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233274406A>T	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1423A>T	2.37:g.233274406A>T	ENSP00000295453:p.Thr475Ser						p.T475S	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1475	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	475					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.1423A>T	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	a	2.956	-0.215593	0.06101	.	.	ENSG00000163286	ENST00000295453	D	0.97710	-4.5	2.54	2.54	0.30619	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.619218	0.16412	N	0.215530	D	0.92469	0.7609	N	0.19112	0.55	0.24455	N	0.994466	B	0.02656	0.0	B	0.12156	0.007	D	0.83956	0.0319	10	0.19147	T	0.46	.	7.3848	0.26876	0.7556:0.2443:0.0:0.0	.	475	P10696	PPBN_HUMAN	S	475	ENSP00000295453:T475S	ENSP00000295453:T475S	T	+	1	0	ALPPL2	232982650	0.970000	0.33590	0.777000	0.31699	0.076000	0.17211	2.518000	0.45537	1.157000	0.42530	0.172000	0.16884	ACC		0.741	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		8	34	0	0	0	1	0	8	34				
SH3PXD2A	9644	broad.mit.edu	37	10	105363403	105363403	+	Silent	SNP	C	C	T	rs551796306		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:105363403C>T	ENST00000369774.4	-	15	1848	c.1572G>A	c.(1570-1572)ccG>ccA	p.P524P	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Silent_p.P391P|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Silent_p.P359P|SH3PXD2A_ENST00000355946.2_Silent_p.P496P			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	524					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGGGTGCTGGCGGGGGCACCT	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		13996	0.001		0.0	False		,,,				2504	0.0					ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(1570-1572)ccG>ccA		SH3 and PX domains 2A							33.0	38.0	37.0					10																	105363403		2203	4297	6500	SO:0001819	synonymous_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105363403C>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1572G>A	10.37:g.105363403C>T						SH3PXD2A_ENST00000540321.1_Silent_p.P391P|SH3PXD2A_ENST00000538130.1_Silent_p.P359P|SH3PXD2A_ENST00000355946.2_Silent_p.P496P|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR	p.P524P			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	1848	-		Colorectal(252;0.0815)|Breast(234;0.131)	524					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37	c.1572G>A		.	.	.	.	.	.	.	.	.	.	C	0.010	-1.782763	0.00634	.	.	ENSG00000107957	ENST00000420222	.	.	.	5.47	-10.9	0.00192	.	.	.	.	.	T	0.32734	0.0839	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44952	-0.9294	4	.	.	.	-17.7785	2.2398	0.04017	0.1882:0.3171:0.2988:0.1959	.	.	.	.	T	451	.	.	A	-	1	0	SH3PXD2A	105353393	0.000000	0.05858	0.012000	0.15200	0.090000	0.18270	-4.131000	0.00289	-3.266000	0.00200	-2.165000	0.00325	GCC		0.672	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		6	51	0	0	0	1	0	6	51				
ABLIM1	3983	broad.mit.edu	37	10	116225582	116225582	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:116225582T>C	ENST00000277895.5	-	12	1413	c.1316A>G	c.(1315-1317)tAc>tGc	p.Y439C	ABLIM1_ENST00000392952.3_Missense_Mutation_p.Y151C|ABLIM1_ENST00000369266.3_Missense_Mutation_p.Y151C|ABLIM1_ENST00000533213.2_Missense_Mutation_p.Y379C|ABLIM1_ENST00000369252.4_Missense_Mutation_p.Y379C|ABLIM1_ENST00000369253.2_Missense_Mutation_p.Y97C	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	439					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AACATCCTGGTACCCCTGGAA	0.537																																						ENST00000533213.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.(1135-1137)tAc>tGc		actin binding LIM protein 1							171.0	155.0	161.0					10																	116225582		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116225582T>C	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1316A>G	10.37:g.116225582T>C	ENSP00000277895:p.Tyr439Cys					ABLIM1_ENST00000369253.2_Missense_Mutation_p.Y97C|ABLIM1_ENST00000369266.3_Missense_Mutation_p.Y151C|ABLIM1_ENST00000369252.4_Missense_Mutation_p.Y379C|ABLIM1_ENST00000392952.3_Missense_Mutation_p.Y151C|ABLIM1_ENST00000277895.5_Missense_Mutation_p.Y439C	p.Y379C			O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	12	1437	-		Colorectal(252;0.0373)|Breast(234;0.231)	439					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.1136A>G	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.87|11.87	1.766250|1.766250	0.31228|0.31228	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000392955|ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253;ENST00000440467;ENST00000428430	.|T;T;T;T;T;T;T	.|0.63096	.|-0.02;-0.02;-0.02;-0.02;0.47;-0.02;-0.02	5.14|5.14	1.32|1.32	0.21799|0.21799	.|.	.|0.387331	.|0.28354	.|N	.|0.015660	T|T	0.42086|0.42086	0.1187|0.1187	L|L	0.27053|0.27053	0.805|0.805	0.30468|0.30468	N|N	0.773638|0.773638	.|B;B;B;B;B;B;B;B;B	.|0.14012	.|0.004;0.001;0.0;0.0;0.0;0.009;0.0;0.0;0.0	.|B;B;B;B;B;B;B;B;B	.|0.16289	.|0.004;0.001;0.005;0.001;0.001;0.015;0.001;0.001;0.002	T|T	0.25537|0.25537	-1.0129|-1.0129	5|10	.|0.38643	.|T	.|0.18	.|.	5.0723|5.0723	0.14613|0.14613	0.133:0.1482:0.0:0.7188|0.133:0.1482:0.0:0.7188	.|.	.|363;123;379;407;439;151;407;363;97	.|B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4	.|.;.;.;.;ABLM1_HUMAN;.;.;.;.	A|C	348|439;379;151;97;407;379;467;363;151;363;363;467;151;104;123	.|ENSP00000358256:Y379C;ENSP00000376679:Y151C;ENSP00000433629:Y379C;ENSP00000358270:Y151C;ENSP00000358257:Y151C;ENSP00000414154:Y104C;ENSP00000400934:Y123C	.|ENSP00000277895:Y467C	T|Y	-|-	1|2	0|0	ABLIM1|ABLIM1	116215572|116215572	1.000000|1.000000	0.71417|0.71417	0.666000|0.666000	0.29783|0.29783	0.874000|0.874000	0.50279|0.50279	1.521000|1.521000	0.35910|0.35910	0.027000|0.027000	0.15297|0.15297	0.528000|0.528000	0.53228|0.53228	ACC|TAC		0.537	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3			44	136	0	0	0	1	0	44	136				
UBR2	23304	broad.mit.edu	37	6	42604929	42604929	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:42604929G>A	ENST00000372899.1	+	15	2113	c.1855G>A	c.(1855-1857)Gca>Aca	p.A619T	UBR2_ENST00000372901.1_Missense_Mutation_p.A619T|UBR2_ENST00000372883.3_Missense_Mutation_p.A123T	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	619					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TCGCTTACTTGCAGGTAAAGC	0.353																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(1855-1857)Gca>Aca		ubiquitin protein ligase E3 component n-recognin 2							105.0	94.0	98.0					6																	42604929		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42604929G>A	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1855G>A	6.37:g.42604929G>A	ENSP00000361990:p.Ala619Thr					UBR2_ENST00000372883.3_Missense_Mutation_p.A123T|UBR2_ENST00000372901.1_Missense_Mutation_p.A619T	p.A619T	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		15	2113	+	Colorectal(47;0.196)		619					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.1855G>A	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	34	5.376678	0.95945	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.61859	0.07;0.07;0.07	5.39	5.39	0.77823	.	0.047511	0.85682	N	0.000000	T	0.74084	0.3670	M	0.78049	2.395	0.80722	D	1	D;D;B	0.89917	1.0;0.999;0.031	D;D;B	0.91635	0.999;0.961;0.021	T	0.74940	-0.3493	10	0.54805	T	0.06	-10.0959	19.5728	0.95428	0.0:0.0:1.0:0.0	.	619;619;123	Q8IWV8-4;Q8IWV8;Q8IWV8-3	.;UBR2_HUMAN;.	T	619;619;123	ENSP00000361990:A619T;ENSP00000361992:A619T;ENSP00000361974:A123T	ENSP00000361974:A123T	A	+	1	0	UBR2	42712907	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.203000	0.95033	2.678000	0.91216	0.644000	0.83932	GCA		0.353	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		18	58	0	0	0	1	0	18	58				
PCDHB14	56122	broad.mit.edu	37	5	140603627	140603627	+	Missense_Mutation	SNP	G	G	A	rs370415569		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140603627G>A	ENST00000239449.4	+	1	550	c.550G>A	c.(550-552)Gac>Aac	p.D184N	PCDHB14_ENST00000515856.2_Missense_Mutation_p.D31N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAAATTCCCGACAGTAGTGA	0.418																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(550-552)Gac>Aac				G	ASN/ASP	1,4405		0,1,2202	75.0	78.0	77.0		550	2.8	0.0	5		77	0,8600		0,0,4300	no	missense	PCDHB14	NM_018934.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	184/799	140603627	1,13005	2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603627G>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.550G>A	5.37:g.140603627G>A	ENSP00000239449:p.Asp184Asn					PCDHB14_ENST00000515856.2_Missense_Mutation_p.D31N	p.D184N	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	550	+			184			Cadherin 2.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.550G>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	0.414	-0.911665	0.02434	2.27E-4	0.0	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.50001	0.76;0.76	5.03	2.83	0.33086	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.17959	0.0431	N	0.03071	-0.42	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.28554	-1.0040	9	0.06891	T	0.86	.	5.448	0.16546	0.2835:0.0:0.7165:0.0	.	184	Q9Y5E9	PCDBE_HUMAN	N	31;184	ENSP00000444518:D31N;ENSP00000239449:D184N	ENSP00000239449:D184N	D	+	1	0	PCDHB14	140583811	0.000000	0.05858	0.016000	0.15963	0.979000	0.70002	-0.030000	0.12308	1.254000	0.44035	0.655000	0.94253	GAC		0.418	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		27	95	0	0	0	1	0	27	95				
C4orf27	54969	broad.mit.edu	37	4	170671806	170671806	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:170671806C>T	ENST00000393381.2	-	3	354	c.279G>A	c.(277-279)acG>acA	p.T93T		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	93						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		ATTTTTTCTTCGTTTTATGTT	0.333																																						ENST00000393381.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12						c.(277-279)acG>acA		chromosome 4 open reading frame 27							132.0	140.0	137.0					4																	170671806		2203	4300	6503	SO:0001819	synonymous_variant	54969					nucleus		g.chr4:170671806C>T	BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.279G>A	4.37:g.170671806C>T							p.T93T	NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)	3	354	-		Prostate(90;0.00601)|Renal(120;0.0183)	93						Silent	SNP	ENST00000393381.2	37	c.279G>A	CCDS3813.1																																																																																				0.333	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1	NM_017867		42	152	0	0	0	1	0	42	152				
ACAD10	80724	broad.mit.edu	37	12	112194271	112194271	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:112194271C>T	ENST00000313698.4	+	21	3329	c.3174C>T	c.(3172-3174)cgC>cgT	p.R1058R	RP11-162P23.2_ENST00000546840.2_Intron|ACAD10_ENST00000455480.2_Silent_p.R1089R	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	1058						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TGAAGCACCGCATTTAGAGCC	0.622																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(3265-3267)cgC>cgT		acyl-CoA dehydrogenase family, member 10							31.0	30.0	30.0					12																	112194271		2203	4300	6503	SO:0001819	synonymous_variant	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112194271C>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.3174C>T	12.37:g.112194271C>T						ACAD10_ENST00000313698.4_Silent_p.R1058R|RP11-162P23.2_ENST00000546840.2_Intron	p.R1089R	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			22	3444	+			1058					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	ENST00000313698.4	37	c.3267C>T	CCDS31903.1																																																																																				0.622	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		11	28	0	0	0	1	0	11	28				
LUC7L	55692	broad.mit.edu	37	16	249183	249183	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:249183C>T	ENST00000293872.8	-	6	675	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	LUC7L_ENST00000397783.1_Missense_Mutation_p.V189I|LUC7L_ENST00000397780.1_Missense_Mutation_p.V136I|LUC7L_ENST00000337351.4_Missense_Mutation_p.V189I	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	189					mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				ACCTCGCAGACACGCAGCTTT	0.478																																						ENST00000337351.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11						c.(565-567)Gtc>Atc		LUC7-like (S. cerevisiae)							101.0	102.0	102.0					16																	249183		2203	4300	6503	SO:0001583	missense	55692						metal ion binding	g.chr16:249183C>T	AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"""LUC7 (S. cerevisiae)-like"""				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.565G>A	16.37:g.249183C>T	ENSP00000293872:p.Val189Ile					LUC7L_ENST00000397783.1_Missense_Mutation_p.V189I|LUC7L_ENST00000293872.8_Missense_Mutation_p.V189I|LUC7L_ENST00000397780.1_Missense_Mutation_p.V136I	p.V189I	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN			6	688	-		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	189					B8ZZ13|Q96S32|Q9NPH4	Missense_Mutation	SNP	ENST00000293872.8	37	c.565G>A	CCDS32348.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982479	0.93044	.	.	ENSG00000007392	ENST00000337351;ENST00000293872;ENST00000397783;ENST00000397780;ENST00000430864	T;T;T	0.41758	0.99;0.99;3.47	5.21	5.21	0.72293	.	0.054808	0.64402	N	0.000001	T	0.65407	0.2688	M	0.79926	2.475	0.80722	D	1	P	0.49447	0.924	P	0.60415	0.874	T	0.70396	-0.4883	10	0.87932	D	0	.	17.8175	0.88639	0.0:1.0:0.0:0.0	.	189	Q9NQ29	LUC7L_HUMAN	I	189;189;189;136;103	ENSP00000337507:V189I;ENSP00000380885:V189I;ENSP00000380882:V136I	ENSP00000293872:V189I	V	-	1	0	LUC7L	189184	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.713000	0.84693	2.442000	0.82660	0.551000	0.68910	GTC		0.478	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134239.1			40	103	0	0	0	1	0	40	103				
PTGER4	5734	broad.mit.edu	37	5	40681477	40681477	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:40681477A>G	ENST00000302472.3	+	2	1406	c.382A>G	c.(382-384)Agc>Ggc	p.S128G	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	128					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	CTATTTCTACAGCCACTACGT	0.572											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302472.3																			0				breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(382-384)Agc>Ggc		prostaglandin E receptor 4 (subtype EP4)							151.0	151.0	151.0					5																	40681477		2203	4300	6503	SO:0001583	missense	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681477A>G	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.382A>G	5.37:g.40681477A>G	ENSP00000302846:p.Ser128Gly		OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	895	PTGER4_ENST00000514343.1_3'UTR	p.S128G	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN			2	1406	+			128					Q3MJ87	Missense_Mutation	SNP	ENST00000302472.3	37	c.382A>G	CCDS3930.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.463417	0.63513	.	.	ENSG00000171522	ENST00000302472	T	0.20069	2.1	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.081897	0.85682	D	0.000000	T	0.26738	0.0654	L	0.59436	1.845	0.41999	D	0.990882	B	0.29805	0.257	B	0.36030	0.216	T	0.04413	-1.0953	10	0.23891	T	0.37	-26.0807	15.4577	0.75327	1.0:0.0:0.0:0.0	.	128	P35408	PE2R4_HUMAN	G	128	ENSP00000302846:S128G	ENSP00000302846:S128G	S	+	1	0	PTGER4	40717234	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.321000	0.72881	2.063000	0.61619	0.459000	0.35465	AGC		0.572	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2	NM_000958		30	290	0	0	0	1	0	30	290				
CACNA1C	775	broad.mit.edu	37	12	2797785	2797785	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:2797785G>A	ENST00000347598.4	+	48	6101	c.6101G>A	c.(6100-6102)aGc>aAc	p.S2034N	CACNA1C_ENST00000399595.1_Missense_Mutation_p.S1994N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S2005N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S1986N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S2021N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S2027N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S1986N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S2003N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S2011N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S1986N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S1992N|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S1994N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S2006N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S2057N|CACNA1C_ENST00000399655.1_Missense_Mutation_p.S1986N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S1986N|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S2005N|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S2021N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S2014N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S2057N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S2005N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S1986N	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2069					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCAACAGCAGCTTCCCATCC	0.716																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(5956-5958)aGc>aAc		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						50.0	57.0	55.0					12																	2797785		1952	4143	6095	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2797785G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6101G>A	12.37:g.2797785G>A	ENSP00000266376:p.Ser2034Asn					CACNA1C_ENST00000399597.1_Missense_Mutation_p.S1986N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S2005N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S1986N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S1986N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S1992N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S1986N|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S2021N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S2006N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S2021N|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S2034N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S2014N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S2057N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S2005N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S2027N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S1994N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S2057N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S2003N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S1994N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S2005N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S1986N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S2011N	p.S1986N	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	46	6222	+			2069					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.5957G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942876	0.92526	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.21	5.21	0.72293	.	0.786785	0.12013	N	0.507697	T	0.78578	0.4305	M	0.77103	2.36	0.44500	D	0.997442	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;P;D;D;D;D;D	0.89917	1.0;0.997;0.992;0.981;0.995;0.998;0.996;0.997;0.997;0.962;0.998;0.996;0.996;0.997;0.987;0.991;0.996;0.778;0.997;0.778;0.996;0.997;0.997;0.996;0.992	D;D;D;P;D;D;D;D;D;P;D;D;D;D;D;D;D;P;D;P;D;D;D;D;D	0.79784	0.98;0.981;0.961;0.716;0.981;0.993;0.986;0.993;0.935;0.604;0.993;0.986;0.986;0.993;0.914;0.985;0.986;0.572;0.981;0.572;0.986;0.993;0.981;0.986;0.961	T	0.76844	-0.2809	10	0.49607	T	0.09	.	18.7594	0.91845	0.0:0.0:1.0:0.0	.	677;2027;1983;2069;2021;2005;1986;2003;2014;1986;2006;1986;2017;2034;1986;2021;2057;1994;1992;1994;1975;2005;2005;1986;1986	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	N	2011;1986;1986;2014;1986;2005;2005;1994;1986;2034;2006;1986;2027;2003;2021;1992;2005;1986;2057;2021;2057;1994;1887	ENSP00000336982:S2011N;ENSP00000382563:S1986N;ENSP00000382552:S1986N;ENSP00000382547:S2014N;ENSP00000382506:S1986N;ENSP00000382530:S2005N;ENSP00000382546:S2005N;ENSP00000382500:S1994N;ENSP00000382549:S1986N;ENSP00000266376:S2034N;ENSP00000382515:S2006N;ENSP00000382510:S1986N;ENSP00000341092:S2027N;ENSP00000382537:S2003N;ENSP00000329877:S2021N;ENSP00000382557:S1992N;ENSP00000385724:S2005N;ENSP00000382512:S1986N;ENSP00000382542:S2057N;ENSP00000382526:S2021N;ENSP00000385896:S2057N;ENSP00000382504:S1994N	ENSP00000323129:S1887N	S	+	2	0	CACNA1C	2668046	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.185000	0.77714	2.428000	0.82296	0.462000	0.41574	AGC		0.716	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		25	120	0	0	0	1	0	25	120				
KAT6A	7994	broad.mit.edu	37	8	41839364	41839364	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:41839364T>C	ENST00000396930.3	-	5	1361	c.818A>G	c.(817-819)aAa>aGa	p.K273R	KAT6A_ENST00000485568.1_Missense_Mutation_p.K273R|KAT6A_ENST00000265713.2_Missense_Mutation_p.K273R|KAT6A_ENST00000406337.1_Missense_Mutation_p.K273R	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	273	Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CACCGCATTTTTGCCTTGATC	0.423																																						ENST00000396930.3																			0											c.(817-819)aAa>aGa		K(lysine) acetyltransferase 6A							111.0	79.0	90.0					8																	41839364		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41839364T>C	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.818A>G	8.37:g.41839364T>C	ENSP00000380136:p.Lys273Arg					KAT6A_ENST00000406337.1_Missense_Mutation_p.K273R|KAT6A_ENST00000265713.2_Missense_Mutation_p.K273R|KAT6A_ENST00000485568.1_Missense_Mutation_p.K273R	p.K273R	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			5	1361	-			273					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.818A>G	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355308	0.61293	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.84741	0.5539	N	0.12569	0.235	0.54753	D	0.999984	P;D	0.76494	0.815;0.999	B;D	0.83275	0.38;0.996	T	0.82653	-0.0351	10	0.17369	T	0.5	-32.1111	16.3908	0.83537	0.0:0.0:0.0:1.0	.	273;273	A5PLL3;Q92794	.;KAT6A_HUMAN	R	273	ENSP00000265713:K273R;ENSP00000385888:K273R;ENSP00000380136:K273R;ENSP00000430606:K273R	ENSP00000265713:K273R	K	-	2	0	KAT6A	41958521	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.698000	0.84413	2.269000	0.75478	0.455000	0.32223	AAA		0.423	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		9	29	0	0	0	1	0	9	29				
AMER3	205147	broad.mit.edu	37	2	131520420	131520420	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:131520420T>A	ENST00000423981.1	+	2	885	c.775T>A	c.(775-777)Tcg>Acg	p.S259T	AMER3_ENST00000321420.4_Missense_Mutation_p.S259T	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	259					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										AGATGAGAGCTCGGTGCCATC	0.642																																						ENST00000423981.1																			0											c.(775-777)Tcg>Acg		APC membrane recruitment protein 3							53.0	60.0	57.0					2																	131520420		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131520420T>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.775T>A	2.37:g.131520420T>A	ENSP00000392700:p.Ser259Thr					AMER3_ENST00000321420.4_Missense_Mutation_p.S259T	p.S259T	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	885	+								B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.775T>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	T	9.107	1.005639	0.19199	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.42131	0.98;0.98	5.21	3.99	0.46301	.	0.308918	0.32106	N	0.006564	T	0.36690	0.0976	M	0.63428	1.95	0.26032	N	0.98172	B	0.31910	0.346	B	0.34301	0.179	T	0.31336	-0.9947	10	0.37606	T	0.19	.	4.8061	0.13321	0.1799:0.0887:0.0:0.7314	.	259	Q8N944	F123C_HUMAN	T	259	ENSP00000314914:S259T;ENSP00000392700:S259T	ENSP00000314914:S259T	S	+	1	0	FAM123C	131236890	0.997000	0.39634	0.991000	0.47740	0.048000	0.14542	2.124000	0.42006	0.855000	0.35359	0.459000	0.35465	TCG		0.642	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		5	113	0	0	0	1	0	5	113				
AKR1C4	1109	broad.mit.edu	37	10	5242185	5242185	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:5242185A>G	ENST00000380448.1	+	4	379	c.126A>G	c.(124-126)atA>atG	p.I42M	AKR1CL1_ENST00000445191.1_Intron|AKR1C4_ENST00000263126.1_Missense_Mutation_p.I42M			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	42					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						AATTAGCAATAGAAGCTGGCT	0.448																																						ENST00000380448.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						c.(124-126)atA>atG		aldo-keto reductase family 1, member C4	NADH(DB00157)						109.0	97.0	101.0					10																	5242185		2203	4300	6503	SO:0001583	missense	1109				androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	g.chr10:5242185A>G	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.126A>G	10.37:g.5242185A>G	ENSP00000369814:p.Ile42Met					AKR1CL1_ENST00000445191.1_Intron|AKR1C4_ENST00000263126.1_Missense_Mutation_p.I42M	p.I42M			P17516	AK1C4_HUMAN			4	379	+			42					Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	c.126A>G	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.793072	0.50102	.	.	ENSG00000198610	ENST00000380448;ENST00000263126;ENST00000397357	T;T	0.25579	1.79;1.79	3.46	-3.98	0.04082	NADP-dependent oxidoreductase domain (3);	0.000000	0.64402	D	0.000013	T	0.48352	0.1495	M	0.92833	3.35	0.21184	N	0.999769	D	0.62365	0.991	D	0.79108	0.992	T	0.37103	-0.9720	10	0.87932	D	0	.	5.1806	0.15158	0.2232:0.1414:0.0:0.6354	.	42	P17516	AK1C4_HUMAN	M	42	ENSP00000369814:I42M;ENSP00000263126:I42M	ENSP00000263126:I42M	I	+	3	3	AKR1C4	5232185	0.141000	0.22595	0.002000	0.10522	0.318000	0.28184	-0.459000	0.06728	-0.505000	0.06568	0.482000	0.46254	ATA		0.448	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818		30	104	0	0	0	1	0	30	104				
CELA3A	10136	broad.mit.edu	37	1	22336235	22336235	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:22336235A>G	ENST00000290122.3	+	7	699	c.680A>G	c.(679-681)gAt>gGt	p.D227G	RN7SL186P_ENST00000466485.2_RNA|RNU6-776P_ENST00000364403.1_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	227	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCACAGAGGATGGTGGCTGG	0.577																																						ENST00000290122.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(679-681)gAt>gGt		chymotrypsin-like elastase family, member 3A							71.0	64.0	67.0					1																	22336235		2200	4300	6500	SO:0001583	missense	10136							g.chr1:22336235A>G	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.680A>G	1.37:g.22336235A>G	ENSP00000290122:p.Asp227Gly						p.D227G	NM_005747.4	NP_005738.4					7	699	+								B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	c.680A>G	CCDS220.1	.	.	.	.	.	.	.	.	.	.	A	6.970	0.548973	0.13312	.	.	ENSG00000142789	ENST00000290122;ENST00000400271	T;T	0.17370	2.28;2.28	3.65	2.47	0.30058	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.11665	0.0284	L	0.28274	0.84	0.80722	D	1	B	0.06786	0.001	B	0.14023	0.01	T	0.08146	-1.0736	9	0.52906	T	0.07	-12.4094	8.0313	0.30467	0.793:0.207:0.0:0.0	.	227	P09093	CEL3A_HUMAN	G	227;35	ENSP00000290122:D227G;ENSP00000383130:D35G	ENSP00000290122:D227G	D	+	2	0	CELA3A	22208822	0.030000	0.19436	0.006000	0.13384	0.020000	0.10135	2.833000	0.48159	0.441000	0.26529	0.374000	0.22700	GAT		0.577	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		19	63	0	0	0	1	0	19	63				
GTF2IRD1	9569	broad.mit.edu	37	7	73973362	73973362	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:73973362T>C	ENST00000265755.3	+	21	2717	c.2324T>C	c.(2323-2325)tTc>tCc	p.F775S	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.F760S|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.F760S|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.F792S|GTF2IRD1_ENST00000489094.1_3'UTR	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	775					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGATCAAGTTCACAGTCACC	0.567																																						ENST00000476977.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2278-2280)tTc>tCc		GTF2I repeat domain containing 1							76.0	71.0	73.0					7																	73973362		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73973362T>C	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2324T>C	7.37:g.73973362T>C	ENSP00000265755:p.Phe775Ser					GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.F760S|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.F775S|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.F792S	p.F760S			Q9UHL9	GT2D1_HUMAN			21	3970	+			775					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.2279T>C	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.348321	0.82132	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.66489	0.2794	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.89917	0.999;0.957;0.979;1.0	D;D;D;D	0.97110	0.998;0.925;0.925;1.0	T	0.70842	-0.4762	10	0.87932	D	0	-24.2614	13.0207	0.58784	0.0:0.0:0.0:1.0	.	792;760;775;760	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	S	775;792;760;760	ENSP00000265755:F775S;ENSP00000397566:F792S;ENSP00000408477:F760S;ENSP00000418383:F760S	ENSP00000265755:F775S	F	+	2	0	GTF2IRD1	73611298	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.450000	0.80656	1.677000	0.50941	0.374000	0.22700	TTC		0.567	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		6	88	0	0	0	1	0	6	88				
TNR	7143	broad.mit.edu	37	1	175334212	175334212	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:175334212T>C	ENST00000367674.2	-	12	3229	c.2521A>G	c.(2521-2523)Att>Gtt	p.I841V	TNR_ENST00000263525.2_Missense_Mutation_p.I841V			Q92752	TENR_HUMAN	tenascin R	841	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGTTCACAATATACTCTGTG	0.567																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(2521-2523)Att>Gtt		tenascin R							96.0	89.0	91.0					1																	175334212		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175334212T>C	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2521A>G	1.37:g.175334212T>C	ENSP00000356646:p.Ile841Val					TNR_ENST00000263525.2_Missense_Mutation_p.I841V	p.I841V	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			12	3229	-	Renal(580;0.146)		841			Fibronectin type-III 6.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.2521A>G	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.076750	0.36662	.	.	ENSG00000116147	ENST00000367674;ENST00000263525	T;T	0.55588	0.51;0.51	5.91	4.75	0.60458	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.190401	0.46758	D	0.000273	T	0.34919	0.0914	N	0.11064	0.09	0.30899	N	0.729522	B	0.26902	0.163	B	0.30943	0.122	T	0.35126	-0.9801	10	0.33940	T	0.23	.	12.3117	0.54931	0.0:0.0:0.266:0.734	.	841	Q92752	TENR_HUMAN	V	841	ENSP00000356646:I841V;ENSP00000263525:I841V	ENSP00000263525:I841V	I	-	1	0	TNR	173600835	1.000000	0.71417	0.971000	0.41717	0.971000	0.66376	3.960000	0.56752	1.023000	0.39654	0.533000	0.62120	ATT		0.567	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		4	92	0	0	0	1	0	4	92				
AARS2	57505	broad.mit.edu	37	6	44275104	44275104	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:44275104G>A	ENST00000244571.4	-	6	924	c.922C>T	c.(922-924)Cga>Tga	p.R308*	TMEM151B_ENST00000438774.2_3'UTR|RP11-444E17.6_ENST00000505802.1_3'UTR	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACCCCTACTCGGCCCAAGTAA	0.632																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(922-924)Cga>Tga		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						37.0	37.0	37.0					6																	44275104		2203	4300	6503	SO:0001587	stop_gained	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44275104G>A	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.922C>T	6.37:g.44275104G>A	ENSP00000244571:p.Arg308*					TMEM151B_ENST00000438774.2_3'UTR	p.R308*	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	924	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		308						Nonsense_Mutation	SNP	ENST00000244571.4	37	c.922C>T	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416209	0.83449	.	.	ENSG00000124608	ENST00000244571	.	.	.	4.32	4.32	0.51571	.	0.601431	0.17351	N	0.177406	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-10.0347	10.3574	0.43972	0.1458:0.0:0.8542:0.0	.	.	.	.	X	308	.	ENSP00000244571:R308X	R	-	1	2	AARS2	44383082	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.396000	0.52565	2.237000	0.73441	0.313000	0.20887	CGA		0.632	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		9	6	0	0	0	1	0	9	6				
TMEM135	65084	broad.mit.edu	37	11	86778844	86778844	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:86778844G>A	ENST00000305494.5	+	2	289	c.250G>A	c.(250-252)Gct>Act	p.A84T	TMEM135_ENST00000355734.4_Missense_Mutation_p.A84T|TMEM135_ENST00000340353.7_Missense_Mutation_p.A84T|TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000535167.1_5'UTR	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	84					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTGTATATGGCTTTCTTTTG	0.338																																						ENST00000340353.7																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(250-252)Gct>Act		transmembrane protein 135							118.0	113.0	115.0					11																	86778844		2201	4299	6500	SO:0001583	missense	65084					integral to membrane		g.chr11:86778844G>A	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.250G>A	11.37:g.86778844G>A	ENSP00000306344:p.Ala84Thr					TMEM135_ENST00000305494.5_Missense_Mutation_p.A84T|TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000355734.4_Missense_Mutation_p.A84T|TMEM135_ENST00000535167.1_5'UTR	p.A84T	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN			2	452	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	84					Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	ENST00000305494.5	37	c.250G>A	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693747	0.48202	.	.	ENSG00000166575	ENST00000340353;ENST00000526733;ENST00000525018;ENST00000355734;ENST00000305494	T;T;T	0.46063	0.89;0.93;0.88	5.51	4.56	0.56223	.	0.185055	0.46442	N	0.000282	T	0.31702	0.0805	L	0.38531	1.155	0.80722	D	1	B;B;B	0.15141	0.003;0.001;0.012	B;B;B	0.19666	0.003;0.002;0.026	T	0.07731	-1.0757	9	.	.	.	-7.8185	10.3889	0.44156	0.1035:0.0:0.8965:0.0	.	84;84;84	Q86UB9-2;Q86UB9;Q8N605	.;TM135_HUMAN;.	T	84	ENSP00000345513:A84T;ENSP00000433927:A84T;ENSP00000306344:A84T	.	A	+	1	0	TMEM135	86456492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.932000	0.56537	1.177000	0.42855	0.655000	0.94253	GCT		0.338	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918		20	32	0	0	0	1	0	20	32				
IL4R	3566	broad.mit.edu	37	16	27373961	27373961	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:27373961T>C	ENST00000395762.2	+	11	1547	c.1288T>C	c.(1288-1290)Tca>Cca	p.S430P	IL4R_ENST00000543915.2_Missense_Mutation_p.S430P|IL4R_ENST00000380922.3_Missense_Mutation_p.S415P|IL4R_ENST00000170630.2_Missense_Mutation_p.S430P	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	430					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CATGGGGGAGTCATGCCTTCT	0.617																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1288-1290)Tca>Cca		interleukin 4 receptor							75.0	74.0	74.0					16																	27373961		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27373961T>C	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1288T>C	16.37:g.27373961T>C	ENSP00000379111:p.Ser430Pro					IL4R_ENST00000380922.3_Missense_Mutation_p.S415P|IL4R_ENST00000543915.2_Missense_Mutation_p.S430P|IL4R_ENST00000170630.2_Missense_Mutation_p.S430P	p.S430P	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			11	1547	+			430					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.1288T>C	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.630524	0.28978	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	4.85	-3.43	0.04810	.	18.744300	0.00166	N	0.000000	T	0.13243	0.0321	M	0.64997	1.995	0.09310	N	1	B;B;B	0.19200	0.034;0.034;0.034	B;B;B	0.14023	0.01;0.01;0.01	T	0.44513	-0.9323	10	0.72032	D	0.01	-35.3678	6.675	0.23090	0.0:0.4677:0.1536:0.3787	.	415;430;430	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	P	430;430;415;430	ENSP00000379111:S430P;ENSP00000441667:S430P;ENSP00000370309:S415P;ENSP00000170630:S430P	ENSP00000170630:S430P	S	+	1	0	IL4R	27281462	0.000000	0.05858	0.006000	0.13384	0.036000	0.12997	-0.046000	0.11983	-0.305000	0.08831	-0.290000	0.09829	TCA		0.617	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			35	79	0	0	0	1	0	35	79				
MAP3K6	9064	broad.mit.edu	37	1	27691380	27691380	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:27691380T>C	ENST00000493901.1	-	3	603	c.364A>G	c.(364-366)Agc>Ggc	p.S122G	MAP3K6_ENST00000374040.3_Missense_Mutation_p.S122G|MAP3K6_ENST00000357582.2_Missense_Mutation_p.S122G	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	122					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACCAGCGAGCTGCTCACCTCC	0.622																																						ENST00000493901.1																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(364-366)Agc>Ggc		mitogen-activated protein kinase kinase kinase 6							63.0	56.0	58.0					1																	27691380		2203	4300	6503	SO:0001583	missense	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27691380T>C	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.364A>G	1.37:g.27691380T>C	ENSP00000419591:p.Ser122Gly					MAP3K6_ENST00000374040.3_Missense_Mutation_p.S122G|MAP3K6_ENST00000357582.2_Missense_Mutation_p.S122G	p.S122G	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	3	603	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	122					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	c.364A>G	CCDS299.1	.	.	.	.	.	.	.	.	.	.	T	12.40	1.925635	0.34002	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000357582	T;T;T	0.66460	-0.21;-0.21;-0.21	5.4	1.83	0.25207	.	.	.	.	.	T	0.48466	0.1501	N	0.25647	0.755	0.27797	N	0.942636	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.32851	-0.9891	9	0.22706	T	0.39	.	7.4039	0.26979	0.0:0.3283:0.0:0.6717	.	122;122	O95382-3;O95382	.;M3K6_HUMAN	G	122	ENSP00000363152:S122G;ENSP00000419591:S122G;ENSP00000350195:S122G	ENSP00000350195:S122G	S	-	1	0	MAP3K6	27563967	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.763000	0.26517	0.514000	0.28300	0.533000	0.62120	AGC		0.622	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		19	56	0	0	0	1	0	19	56				
SMG7	9887	broad.mit.edu	37	1	183495741	183495741	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:183495741A>G	ENST00000347615.2	+	5	442	c.323A>G	c.(322-324)gAa>gGa	p.E108G	SMG7_ENST00000507469.1_Missense_Mutation_p.E108G|SMG7_ENST00000508461.1_Missense_Mutation_p.E66G|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000456731.2_Missense_Mutation_p.E66G|SMG7_ENST00000515829.2_Missense_Mutation_p.E108G|SMG7_ENST00000367537.3_Missense_Mutation_p.E137G	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	108					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTATTACAAGAACTGTGTACA	0.343																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(409-411)gAa>gGa		SMG7 nonsense mediated mRNA decay factor							92.0	95.0	94.0					1																	183495741		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183495741A>G	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.323A>G	1.37:g.183495741A>G	ENSP00000340766:p.Glu108Gly					SMG7_ENST00000507469.1_Missense_Mutation_p.E108G|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000508461.1_Missense_Mutation_p.E66G|SMG7_ENST00000515829.2_Missense_Mutation_p.E108G|SMG7_ENST00000347615.2_Missense_Mutation_p.E108G|SMG7_ENST00000456731.2_Missense_Mutation_p.E66G	p.E137G			Q92540	SMG7_HUMAN			6	605	+			108					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.410A>G	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.198065	0.79015	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21	5.61	5.61	0.85477	Telomerase activating protein Est1 (1);	0.334161	0.35320	N	0.003281	T	0.39306	0.1073	L	0.56769	1.78	0.80722	D	1	D;P;D;P;P;D	0.71674	0.998;0.909;0.997;0.889;0.956;0.997	D;P;D;P;D;D	0.76071	0.978;0.89;0.987;0.81;0.92;0.987	T	0.10706	-1.0618	10	0.59425	D	0.04	-15.5903	16.1025	0.81194	1.0:0.0:0.0:0.0	.	66;137;66;108;108;108	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	G	66;137;66;66;108;108;108	ENSP00000407629:E66G;ENSP00000356507:E137G;ENSP00000426915:E66G;ENSP00000388390:E66G;ENSP00000340766:E108G;ENSP00000425133:E108G;ENSP00000421358:E108G	ENSP00000340766:E108G	E	+	2	0	SMG7	181762364	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.638000	0.91019	2.254000	0.74563	0.533000	0.62120	GAA		0.343	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		15	92	0	0	0	1	0	15	92				
DFNB31	25861	broad.mit.edu	37	9	117266652	117266652	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:117266652G>A	ENST00000362057.3	-	1	598	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	DFNB31_ENST00000374057.3_Missense_Mutation_p.R144W|DFNB31_ENST00000480518.1_5'Flank|DFNB31_ENST00000265134.6_5'Flank	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	144	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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						TTGGCACGCCGCAAACTCACC	0.721																																						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.(430-432)Cgg>Tgg		deafness, autosomal recessive 31							34.0	38.0	36.0					9																	117266652		2203	4299	6502	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117266652G>A	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.430C>T	9.37:g.117266652G>A	ENSP00000354623:p.Arg144Trp					DFNB31_ENST00000374057.3_Missense_Mutation_p.R144W	p.R144W	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			1	598	-			144			PDZ 1.		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.430C>T	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421287	0.83559	.	.	ENSG00000095397	ENST00000362057;ENST00000374057	T;T	0.27557	1.66;1.66	5.79	-1.68	0.08212	PDZ/DHR/GLGF (3);	0.058813	0.64402	D	0.000003	T	0.54581	0.1867	M	0.79614	2.46	0.40144	D	0.976863	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.977;0.983;0.983	T	0.67309	-0.5703	10	0.72032	D	0.01	-26.9933	18.9944	0.92806	0.0:0.0:0.2899:0.7101	.	144;144;144	Q9P202-2;B9EGE6;Q9P202	.;.;WHRN_HUMAN	W	144	ENSP00000354623:R144W;ENSP00000363170:R144W	ENSP00000354623:R144W	R	-	1	2	DFNB31	116306473	0.644000	0.27277	0.990000	0.47175	0.976000	0.68499	1.179000	0.31993	-0.158000	0.11040	0.655000	0.94253	CGG		0.721	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		22	63	0	0	0	1	0	22	63				
NUMA1	4926	broad.mit.edu	37	11	71723445	71723445	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:71723445A>G	ENST00000393695.3	-	16	4982		c.e16+1		NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTCAGGCATTACCTGCTTAGT	0.547			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.e16+1		nuclear mitotic apparatus protein 1							158.0	143.0	148.0					11																	71723445		2200	4293	6493	SO:0001630	splice_region_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71723445A>G	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4650+1T>C	11.37:g.71723445A>G						NUMA1_ENST00000358965.6_Intron|NUMA1_ENST00000351960.6_Intron		NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			16	4982	-									Splice_Site	SNP	ENST00000393695.3	37		CCDS31633.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255703	0.59321	.	.	ENSG00000137497	ENST00000393695	.	.	.	4.88	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3667	0.49677	0.8478:0.1522:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUMA1	71401093	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.247000	0.43151	0.851000	0.35264	0.460000	0.39030	.		0.547	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1		Intron	21	101	0	0	0	1	0	21	101				
PPFIA3	8541	broad.mit.edu	37	19	49631148	49631148	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:49631148G>A	ENST00000334186.4	+	2	367	c.18G>A	c.(16-18)atG>atA	p.M6I	PPFIA3_ENST00000602351.1_Missense_Mutation_p.M6I	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	6					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GCGAGGTGATGCCCACCATCA	0.706																																						ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(16-18)atG>atA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							13.0	16.0	15.0					19																	49631148		1792	3638	5430	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49631148G>A	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.18G>A	19.37:g.49631148G>A	ENSP00000335614:p.Met6Ile					PPFIA3_ENST00000602351.1_Missense_Mutation_p.M6I	p.M6I	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	2	367	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	6					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.18G>A	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	36	5.722972	0.96847	.	.	ENSG00000177380	ENST00000334186	T	0.29142	1.58	4.33	4.33	0.51752	.	0.000000	0.64402	D	0.000020	T	0.55033	0.1895	M	0.73430	2.235	0.80722	D	1	D	0.59767	0.986	D	0.69479	0.964	T	0.61247	-0.7101	10	0.87932	D	0	-23.8013	16.1186	0.81325	0.0:0.0:1.0:0.0	.	6	O75145	LIPA3_HUMAN	I	6	ENSP00000335614:M6I	ENSP00000335614:M6I	M	+	3	0	PPFIA3	54322960	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.462000	0.97649	2.436000	0.82500	0.462000	0.41574	ATG		0.706	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		8	31	0	0	0	1	0	8	31				
KCNH3	23416	broad.mit.edu	37	12	49938030	49938030	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:49938030T>C	ENST00000257981.6	+	7	1314	c.1054T>C	c.(1054-1056)Tac>Cac	p.Y352H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	352					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCTGGACCGGTACTCGCAGTA	0.672																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1054-1056)Tac>Cac		potassium voltage-gated channel, subfamily H (eag-related), member 3							24.0	21.0	22.0					12																	49938030		2200	4296	6496	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49938030T>C	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1054T>C	12.37:g.49938030T>C	ENSP00000257981:p.Tyr352His						p.Y352H	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			7	1314	+			352					Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.1054T>C	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483364	0.84854	.	.	ENSG00000135519	ENST00000257981	D	0.97066	-4.23	4.66	4.66	0.58398	Ion transport (1);	0.000000	0.39146	N	0.001441	D	0.98232	0.9415	M	0.83852	2.665	0.50039	D	0.999846	D	0.76494	0.999	D	0.83275	0.996	D	0.98928	1.0786	10	0.87932	D	0	.	12.3828	0.55315	0.0:0.0:0.0:1.0	.	352	Q9ULD8	KCNH3_HUMAN	H	352	ENSP00000257981:Y352H	ENSP00000257981:Y352H	Y	+	1	0	KCNH3	48224297	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	7.868000	0.87116	2.106000	0.64143	0.459000	0.35465	TAC		0.672	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		5	19	0	0	0	1	0	5	19				
ZBTB40	9923	broad.mit.edu	37	1	22835204	22835204	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:22835204C>T	ENST00000375647.4	+	8	1886	c.1679C>T	c.(1678-1680)gCc>gTc	p.A560V	ZBTB40_ENST00000404138.1_Missense_Mutation_p.A560V|ZBTB40_ENST00000374651.4_Missense_Mutation_p.A448V	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	560					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GAGCCTGGTGCCGATGCTTTC	0.542																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1678-1680)gCc>gTc		zinc finger and BTB domain containing 40							57.0	61.0	59.0					1																	22835204		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22835204C>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.1679C>T	1.37:g.22835204C>T	ENSP00000364798:p.Ala560Val					ZBTB40_ENST00000375647.4_Missense_Mutation_p.A560V|ZBTB40_ENST00000374651.4_Missense_Mutation_p.A448V	p.A560V	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	9	2190	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	560					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.1679C>T	CCDS224.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955827	0.53293	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	D;D;D	0.82526	-1.62;-1.62;-1.62	5.97	5.97	0.96955	.	0.000000	0.56097	D	0.000038	D	0.88100	0.6346	L	0.36672	1.1	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.88546	0.3113	10	0.87932	D	0	-18.0478	18.9774	0.92743	0.0:1.0:0.0:0.0	.	448;560	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	V	560;560;448	ENSP00000384527:A560V;ENSP00000364798:A560V;ENSP00000363782:A448V	ENSP00000363782:A448V	A	+	2	0	ZBTB40	22707791	0.996000	0.38824	0.239000	0.24122	0.175000	0.22909	4.938000	0.63519	2.835000	0.97688	0.591000	0.81541	GCC		0.542	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		25	57	0	0	0	1	0	25	57				
NT5E	4907	broad.mit.edu	37	6	86176945	86176945	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:86176945A>G	ENST00000257770.3	+	2	556	c.507A>G	c.(505-507)gaA>gaG	p.E169E	NT5E_ENST00000369651.3_Silent_p.E169E|NT5E_ENST00000369646.3_Silent_p.E169E	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	169					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	TTGGTGATGAAGTTGTGGGAA	0.378																																					Melanoma(140;797 1765 2035 2752 18208)	ENST00000257770.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(505-507)gaA>gaG		5'-nucleotidase, ecto (CD73)	Pentoxifylline(DB00806)						127.0	121.0	123.0					6																	86176945		2203	4300	6503	SO:0001819	synonymous_variant	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86176945A>G	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.507A>G	6.37:g.86176945A>G						NT5E_ENST00000369646.3_Silent_p.E169E|NT5E_ENST00000369651.3_Silent_p.E169E	p.E169E	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	2	556	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	169					B3KQI8|O75520|Q5W116	Silent	SNP	ENST00000257770.3	37	c.507A>G	CCDS5002.1																																																																																				0.378	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			4	56	0	0	0	1	0	4	56				
B3GALT6	126792	broad.mit.edu	37	1	1168029	1168029	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:1168029C>T	ENST00000379198.2	+	1	401	c.371C>T	c.(370-372)gCg>gTg	p.A124V	SDF4_ENST00000263741.7_5'Flank|SDF4_ENST00000459994.2_5'Flank|SDF4_ENST00000545427.1_5'Flank|SDF4_ENST00000360001.6_5'Flank	NM_080605.3	NP_542172.2	Q96L58	B3GT6_HUMAN	UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6	124					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi medial cisterna (GO:0005797)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylxylosylprotein 3-beta-galactosyltransferase activity (GO:0047220)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)|UDP-galactosyltransferase activity (GO:0035250)			lung(3)	3	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)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGCTGCCCGCGCTGCGCGAC	0.736																																						ENST00000379198.2																			0				lung(3)	3						c.(370-372)gCg>gTg		UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6							10.0	12.0	11.0					1																	1168029		2104	4126	6230	SO:0001583	missense	126792				glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity	g.chr1:1168029C>T	AY050570	CCDS13.1	1p36.33	2013-02-19	2002-05-23		ENSG00000176022	ENSG00000176022		"""Beta 3-glycosyltransferases"""	17978	protein-coding gene	gene with protein product	"""beta-1,3-galactosyltransferase-6"""	615291	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6"""			11551958	Standard	NM_080605		Approved	beta3GalT6	uc001adk.3	Q96L58	OTTHUMG00000001813	ENST00000379198.2:c.371C>T	1.37:g.1168029C>T	ENSP00000368496:p.Ala124Val						p.A124V	NM_080605.3	NP_542172.2	Q96L58	B3GT6_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	401	+	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)	124					Q5T7M5	Missense_Mutation	SNP	ENST00000379198.2	37	c.371C>T	CCDS13.1	.	.	.	.	.	.	.	.	.	.	C	8.977	0.974387	0.18736	.	.	ENSG00000176022	ENST00000379198	T	0.42900	0.96	3.84	0.544	0.17185	.	0.320352	0.27415	U	0.019472	T	0.20414	0.0491	N	0.19112	0.55	0.09310	N	1	P	0.35272	0.493	B	0.36534	0.227	T	0.04737	-1.0930	10	0.24483	T	0.36	-0.1267	1.8331	0.03134	0.3789:0.3627:0.1438:0.1146	.	124	Q96L58	B3GT6_HUMAN	V	124	ENSP00000368496:A124V	ENSP00000368496:A124V	A	+	2	0	B3GALT6	1157892	0.576000	0.26700	0.264000	0.24511	0.910000	0.53928	4.013000	0.57138	0.720000	0.32209	0.281000	0.19383	GCG		0.736	B3GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005071.1	NM_080605		16	20	0	0	0	1	0	16	20				
ABCA6	23460	broad.mit.edu	37	17	67080594	67080594	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:67080594T>C	ENST00000284425.2	-	33	4413	c.4239A>G	c.(4237-4239)ttA>ttG	p.L1413L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1413	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTCCTGCTGTTAATTTCTGCA	0.443																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(4237-4239)ttA>ttG		ATP-binding cassette, sub-family A (ABC1), member 6							325.0	280.0	296.0					17																	67080594		2203	4300	6503	SO:0001819	synonymous_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67080594T>C	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4239A>G	17.37:g.67080594T>C						ABCA6_ENST00000446604.2_5'UTR	p.L1413L	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			33	4413	-	Breast(10;5.65e-12)		1413			ABC transporter 2.		Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	c.4239A>G	CCDS11683.1																																																																																				0.443	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		10	335	0	0	0	1	0	10	335				
EFNA1	1942	broad.mit.edu	37	1	155106009	155106009	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:155106009G>A	ENST00000368407.3	+	3	937	c.419G>A	c.(418-420)tGc>tAc	p.C140Y	SLC50A1_ENST00000303343.8_5'Flank|SLC50A1_ENST00000368401.5_5'Flank|EFNA1_ENST00000469878.1_3'UTR|SLC50A1_ENST00000368404.4_5'Flank|SLC50A1_ENST00000484157.1_5'Flank|EFNA1_ENST00000368406.2_Intron	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	140	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAAGACCGCTGCTTGAGGTTG	0.502																																						ENST00000368407.3																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5						c.(418-420)tGc>tAc		ephrin-A1							109.0	103.0	105.0					1																	155106009		2203	4300	6503	SO:0001583	missense	1942				angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding	g.chr1:155106009G>A		CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"""Ephrins"""	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.419G>A	1.37:g.155106009G>A	ENSP00000357392:p.Cys140Tyr					EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Intron	p.C140Y	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	937	+	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		140					D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Missense_Mutation	SNP	ENST00000368407.3	37	c.419G>A	CCDS1091.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182154	0.78677	.	.	ENSG00000169242	ENST00000368407	D	0.98075	-4.7	5.11	5.11	0.69529	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.98789	0.9592	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99478	1.0947	10	0.87932	D	0	-7.4986	16.4251	0.83812	0.0:0.0:1.0:0.0	.	140	P20827	EFNA1_HUMAN	Y	140	ENSP00000357392:C140Y	ENSP00000357392:C140Y	C	+	2	0	EFNA1	153372633	1.000000	0.71417	0.992000	0.48379	0.940000	0.58332	7.777000	0.85628	2.826000	0.97356	0.561000	0.74099	TGC		0.502	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085428.1	NM_004428		31	85	0	0	0	1	0	31	85				
DVL3	1857	broad.mit.edu	37	3	183884283	183884283	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:183884283T>C	ENST00000313143.3	+	9	1201	c.953T>C	c.(952-954)gTa>gCa	p.V318A	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.V318A	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	318	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GCAGTCCGGGTACTGCGGGAG	0.537																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(952-954)gTa>gCa		dishevelled segment polarity protein 3							160.0	160.0	160.0					3																	183884283		2203	4300	6503	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183884283T>C	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.953T>C	3.37:g.183884283T>C	ENSP00000316054:p.Val318Ala					DVL3_ENST00000431765.1_Missense_Mutation_p.V318A|EIF2B5_ENST00000444495.1_Intron	p.V318A	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		9	1201	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		318			PDZ.		B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.953T>C	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.602783	0.87157	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765;ENST00000423300	T;T;T	0.17213	2.29;2.29;2.29	5.6	5.6	0.85130	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.23572	0.0570	N	0.21142	0.635	0.80722	D	1	P;P;P	0.45827	0.519;0.867;0.712	P;P;P	0.53490	0.586;0.727;0.488	T	0.01951	-1.1241	10	0.87932	D	0	-9.3357	15.7935	0.78388	0.0:0.0:0.0:1.0	.	318;150;318	B4E3E5;Q9UG07;Q92997	.;.;DVL3_HUMAN	A	318;318;318;216	ENSP00000316054:V318A;ENSP00000405885:V318A;ENSP00000393849:V216A	ENSP00000316054:V318A	V	+	2	0	DVL3	185366977	1.000000	0.71417	0.933000	0.37362	0.991000	0.79684	8.040000	0.89188	2.125000	0.65367	0.533000	0.62120	GTA		0.537	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		56	138	0	0	0	1	0	56	138				
NLRP5	126206	broad.mit.edu	37	19	56539284	56539284	+	Missense_Mutation	SNP	G	G	A	rs34175666	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:56539284G>A	ENST00000390649.3	+	7	1685	c.1685G>A	c.(1684-1686)cGt>cAt	p.R562H		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	562	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTGAGCTCCGTGCTCTGTTT	0.542													G|||	11	0.00219649	0.0	0.0014	5008	,	,		18880	0.0		0.007	False		,,,				2504	0.0031					ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(1684-1686)cGt>cAt		NLR family, pyrin domain containing 5		G	HIS/ARG	6,4206		0,6,2100	57.0	60.0	59.0		1685	-0.7	0.0	19	dbSNP_126	59	72,8386		0,72,4157	yes	missense	NLRP5	NM_153447.4	29	0,78,6257	AA,AG,GG		0.8513,0.1425,0.6156	possibly-damaging	562/1201	56539284	78,12592	2106	4229	6335	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539284G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1685G>A	19.37:g.56539284G>A	ENSP00000375063:p.Arg562His						p.R562H	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1685	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	562			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1685G>A	CCDS12938.1	6	0.0027472527472527475	0	0.0	1	0.0027624309392265192	0	0.0	5	0.006596306068601583	G	12.67	2.006818	0.35415	0.001425	0.008513	ENSG00000171487	ENST00000390649	T	0.71817	-0.6	2.97	-0.688	0.11317	.	1.365850	0.05348	N	0.531385	T	0.51584	0.1683	N	0.14661	0.345	0.09310	N	1	D	0.59357	0.985	P	0.50570	0.644	T	0.51458	-0.8703	10	0.45353	T	0.12	.	6.0013	0.19521	0.191:0.4243:0.3846:0.0	rs34175666	562	P59047	NALP5_HUMAN	H	562	ENSP00000375063:R562H	ENSP00000375063:R562H	R	+	2	0	NLRP5	61231096	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.695000	0.25527	-0.031000	0.13781	-0.314000	0.08810	CGT		0.542	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		8	27	0	0	0	1	0	8	27				
EXOC6	54536	broad.mit.edu	37	10	94679786	94679786	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:94679786T>C	ENST00000260762.6	+	8	881	c.867T>C	c.(865-867)tgT>tgC	p.C289C	EXOC6_ENST00000443748.2_Intron|EXOC6_ENST00000371547.4_Silent_p.C305C|EXOC6_ENST00000371552.4_Silent_p.C284C	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	289					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TTTATCGATGTTTGCACATTT	0.264																																						ENST00000371552.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(850-852)tgT>tgC		exocyst complex component 6							137.0	123.0	128.0					10																	94679786		2201	4293	6494	SO:0001819	synonymous_variant	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94679786T>C	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.867T>C	10.37:g.94679786T>C						EXOC6_ENST00000260762.6_Silent_p.C289C|EXOC6_ENST00000371547.4_Silent_p.C305C|EXOC6_ENST00000443748.2_Intron	p.C284C	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN			8	881	+		Colorectal(252;0.123)	289					E9PHI3|Q5VXH8|Q9NZ24	Silent	SNP	ENST00000260762.6	37	c.852T>C	CCDS7424.2																																																																																				0.264	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053		8	26	0	0	0	1	0	8	26				
PCDHGA12	26025	broad.mit.edu	37	5	140811955	140811955	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140811955C>T	ENST00000252085.3	+	1	1771	c.1629C>T	c.(1627-1629)agC>agT	p.S543S	PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCCTCAGCAGCAACGTGT	0.622																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(1627-1629)agC>agT									135.0	150.0	145.0					5																	140811955		2203	4300	6503	SO:0001819	synonymous_variant	26025							g.chr5:140811955C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1629C>T	5.37:g.140811955C>T						PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron	p.S543S	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1771	+								O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.1629C>T	CCDS4260.1																																																																																				0.622	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		88	260	0	0	0	1	0	88	260				
CNTN2	6900	broad.mit.edu	37	1	205027164	205027164	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:205027164C>T	ENST00000331830.4	+	3	470	c.186C>T	c.(184-186)cgC>cgT	p.R62R		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	62	Ig-like C2-type 1.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGGCATGCCGCGCCCGGGCCA	0.637																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(184-186)cgC>cgT		contactin 2 (axonal)							25.0	25.0	25.0					1																	205027164		2203	4300	6503	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205027164C>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.186C>T	1.37:g.205027164C>T							p.R62R	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		3	470	+	all_cancers(21;0.144)|Breast(84;0.0437)		62			Ig-like C2-type 1.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.186C>T	CCDS1449.1																																																																																				0.637	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		9	44	0	0	0	1	0	9	44				
VCPIP1	80124	broad.mit.edu	37	8	67546882	67546882	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:67546882T>C	ENST00000310421.4	-	3	3781	c.3523A>G	c.(3523-3525)Act>Gct	p.T1175A		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1175					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CAGCCATCAGTTGTTTCTGTA	0.448																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(3523-3525)Act>Gct		valosin containing protein (p97)/p47 complex interacting protein 1							121.0	112.0	115.0					8																	67546882		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67546882T>C	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.3523A>G	8.37:g.67546882T>C	ENSP00000309031:p.Thr1175Ala						p.T1175A	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		3	3781	-		Lung NSC(129;0.142)|all_lung(136;0.227)	1175					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.3523A>G	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	T	6.824	0.521245	0.13005	.	.	ENSG00000175073	ENST00000310421	T	0.29142	1.58	5.29	2.92	0.33932	.	0.158829	0.44483	N	0.000451	T	0.16769	0.0403	N	0.14661	0.345	0.29586	N	0.848774	B	0.06786	0.001	B	0.06405	0.002	T	0.11665	-1.0578	10	0.33141	T	0.24	-4.1281	9.3959	0.38401	0.0:0.2112:0.0:0.7888	.	1175	Q96JH7	VCIP1_HUMAN	A	1175	ENSP00000309031:T1175A	ENSP00000309031:T1175A	T	-	1	0	VCPIP1	67709436	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.651000	0.24873	0.418000	0.25898	0.482000	0.46254	ACT		0.448	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			39	156	0	0	0	1	0	39	156				
TFPI	7035	broad.mit.edu	37	2	188332546	188332546	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:188332546T>C	ENST00000233156.3	-	7	1036	c.742A>G	c.(742-744)Agt>Ggt	p.S248G	AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.S248G	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	248	BPTI/Kunitz inhibitor 3. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	CCACATCCACTGTACTTAAAT	0.408																																						ENST00000233156.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9						c.(742-744)Agt>Ggt		tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	Coagulation factor VIIa(DB00036)						157.0	151.0	153.0					2																	188332546		2203	4300	6503	SO:0001583	missense	7035				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr2:188332546T>C		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.742A>G	2.37:g.188332546T>C	ENSP00000233156:p.Ser248Gly					AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.S248G	p.S248G	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)		7	1036	-			248			BPTI/Kunitz inhibitor 3.		O95103|Q53TS4	Missense_Mutation	SNP	ENST00000233156.3	37	c.742A>G	CCDS2294.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922432	0.52653	.	.	ENSG00000003436	ENST00000392365;ENST00000233156;ENST00000426055	T;T;T	0.54071	0.59;0.59;0.59	5.44	5.44	0.79542	Proteinase inhibitor I2, Kunitz metazoa (5);Proteinase inhibitor I2, Kunitz, conserved site (1);	0.204893	0.49916	D	0.000130	T	0.40522	0.1120	N	0.04880	-0.145	0.35561	D	0.804657	D	0.63046	0.992	P	0.57911	0.829	T	0.44050	-0.9353	10	0.02654	T	1	.	12.1646	0.54123	0.0:0.0:0.0:1.0	.	248	P10646	TFPI1_HUMAN	G	248	ENSP00000376172:S248G;ENSP00000233156:S248G;ENSP00000397248:S248G	ENSP00000233156:S248G	S	-	1	0	TFPI	188040791	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	5.621000	0.67743	2.185000	0.69588	0.455000	0.32223	AGT		0.408	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		27	93	0	0	0	1	0	27	93				
REPIN1	29803	broad.mit.edu	37	7	150069682	150069682	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:150069682G>A	ENST00000425389.2	+	1	1430	c.1352G>A	c.(1351-1353)cGc>cAc	p.R451H	REPIN1_ENST00000489432.2_Missense_Mutation_p.R508H|REPIN1_ENST00000397281.2_Missense_Mutation_p.R451H|REPIN1_ENST00000444957.1_Missense_Mutation_p.R451H|REPIN1_ENST00000479668.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Missense_Mutation_p.R451H	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	451				R -> P (in Ref. 1; AAF26712). {ECO:0000305}.	DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCGCATCGGCGCGACCACGCC	0.741																																						ENST00000397281.2																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(1351-1353)cGc>cAc		replication initiator 1							12.0	17.0	15.0					7																	150069682		2115	4209	6324	SO:0001583	missense	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069682G>A	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1352G>A	7.37:g.150069682G>A	ENSP00000388287:p.Arg451His					REPIN1_ENST00000489432.2_Missense_Mutation_p.R508H|REPIN1_ENST00000444957.1_Missense_Mutation_p.R451H|REPIN1_ENST00000425389.2_Missense_Mutation_p.R451H|REPIN1_ENST00000540729.1_Missense_Mutation_p.R451H|REPIN1_ENST00000479668.1_3'UTR	p.R451H	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1841	+	Ovarian(565;0.183)|Melanoma(164;0.226)		451	R -> P (in Ref. 1; AAF26712).				C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Missense_Mutation	SNP	ENST00000425389.2	37	c.1352G>A	CCDS43677.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372318	0.61624	.	.	ENSG00000214022	ENST00000540729;ENST00000397281;ENST00000444957;ENST00000489432;ENST00000425389	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	4.11	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53190	0.1781	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61431	-0.7064	9	0.87932	D	0	-18.1861	13.8973	0.63781	0.0:0.0:1.0:0.0	.	508;451	C9J3L7;Q9BWE0	.;REPI1_HUMAN	H	451;451;451;508;451	ENSP00000445016:R451H;ENSP00000380451:R451H;ENSP00000407714:R451H;ENSP00000417291:R508H;ENSP00000388287:R451H	ENSP00000380451:R451H	R	+	2	0	REPIN1	149700615	0.004000	0.15560	0.999000	0.59377	0.808000	0.45660	0.488000	0.22371	2.142000	0.66516	0.462000	0.41574	CGC		0.741	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		9	43	0	0	0	1	0	9	43				
ARHGAP17	55114	broad.mit.edu	37	16	24965979	24965979	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:24965979G>A	ENST00000289968.6	-	10	866	c.797C>T	c.(796-798)gCg>gTg	p.A266V	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.A266V|ARHGAP17_ENST00000575975.1_5'Flank|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	266	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AATGGGCAGCGCAATCTCGCG	0.547																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(796-798)gCg>gTg		Rho GTPase activating protein 17							141.0	136.0	137.0					16																	24965979		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24965979G>A	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.797C>T	16.37:g.24965979G>A	ENSP00000289968:p.Ala266Val					ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.A266V	p.A266V	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	10	866	-			266			Rho-GAP.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.797C>T	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	G	36	5.729716	0.96856	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.11385	2.78;2.78	5.66	5.66	0.87406	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.39985	N	0.001203	T	0.42471	0.1204	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.47898	-0.9081	10	0.66056	D	0.02	.	17.2492	0.87037	0.0:0.0:1.0:0.0	.	266;266;266	C9IZD3;Q68EM7-2;Q68EM7	.;.;RHG17_HUMAN	V	266	ENSP00000289968:A266V;ENSP00000303130:A266V	ENSP00000289968:A266V	A	-	2	0	ARHGAP17	24873480	1.000000	0.71417	0.874000	0.34290	0.995000	0.86356	9.768000	0.98965	2.665000	0.90641	0.563000	0.77884	GCG		0.547	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		70	205	0	0	0	1	0	70	205				
IL20RA	53832	broad.mit.edu	37	6	137338204	137338204	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:137338204T>C	ENST00000316649.5	-	2	360	c.125A>G	c.(124-126)aAc>aGc	p.N42S	IL20RA_ENST00000367748.1_5'UTR|IL20RA_ENST00000541547.1_5'UTR|IL20RA_ENST00000367746.3_Missense_Mutation_p.N42S|IL20RA_ENST00000468393.1_5'UTR	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	42	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GAAGGTGATGTTTGCAGGTTT	0.418																																						ENST00000316649.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(124-126)aAc>aGc		interleukin 20 receptor, alpha							118.0	101.0	107.0					6																	137338204		2203	4300	6503	SO:0001583	missense	53832					integral to membrane	receptor activity	g.chr6:137338204T>C	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.125A>G	6.37:g.137338204T>C	ENSP00000314976:p.Asn42Ser					IL20RA_ENST00000367748.1_5'UTR|IL20RA_ENST00000541547.1_5'UTR|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000367746.3_Missense_Mutation_p.N42S	p.N42S	NM_014432.2	NP_055247.2	Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	2	360	-	Colorectal(23;0.24)		42			Fibronectin type-III 1.		B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	c.125A>G	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816603	0.70912	.	.	ENSG00000016402	ENST00000316649;ENST00000367746	T;T	0.76186	-1.0;-1.0	5.61	5.61	0.85477	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.146987	0.64402	D	0.000011	T	0.74419	0.3714	M	0.64080	1.96	0.80722	D	1	D	0.65815	0.995	D	0.63381	0.914	T	0.72779	-0.4190	10	0.18710	T	0.47	-17.8535	12.201	0.54326	0.0:0.0:0.0:1.0	.	42	Q9UHF4	I20RA_HUMAN	S	42	ENSP00000314976:N42S;ENSP00000356720:N42S	ENSP00000314976:N42S	N	-	2	0	IL20RA	137379897	1.000000	0.71417	0.978000	0.43139	0.987000	0.75469	5.001000	0.63946	2.140000	0.66376	0.533000	0.62120	AAC		0.418	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		3	59	0	0	0	1	0	3	59				
LACTB	114294	broad.mit.edu	37	15	63419875	63419875	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:63419875G>A	ENST00000261893.4	+	4	1011	c.939G>A	c.(937-939)ttG>ttA	p.L313L	LACTB_ENST00000413507.2_Silent_p.L313L|RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	313						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						ATGATCCTTTGTTCTTCAAAC	0.313																																					Melanoma(85;443 1381 6215 27308 35583)	ENST00000413507.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						c.(937-939)ttG>ttA		lactamase, beta							26.0	31.0	29.0					15																	63419875		2177	4255	6432	SO:0001819	synonymous_variant	114294					mitochondrion	hydrolase activity	g.chr15:63419875G>A	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.939G>A	15.37:g.63419875G>A						LACTB_ENST00000261893.4_Silent_p.L313L|RPS27L_ENST00000559763.1_Intron	p.L313L	NM_171846.2	NP_741982.1	P83111	LACTB_HUMAN			4	978	+			313					P83096	Silent	SNP	ENST00000261893.4	37	c.939G>A	CCDS10182.1																																																																																				0.313	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		4	26	0	0	0	1	0	4	26				
NEK10	152110	broad.mit.edu	37	3	27353644	27353644	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:27353644A>G	ENST00000429845.2	-	9	876	c.514T>C	c.(514-516)Tac>Cac	p.Y172H	NEK10_ENST00000341435.5_Missense_Mutation_p.Y172H			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	172					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TAGCCGAGGTACTCATTGGCT	0.478																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(514-516)Tac>Cac		NIMA-related kinase 10							105.0	79.0	87.0					3																	27353644		1568	3582	5150	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27353644A>G	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.514T>C	3.37:g.27353644A>G	ENSP00000395849:p.Tyr172His					NEK10_ENST00000341435.5_Missense_Mutation_p.Y172H	p.Y172H			Q6ZWH5	NEK10_HUMAN			9	876	-			172					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.514T>C		.	.	.	.	.	.	.	.	.	.	A	17.50	3.404432	0.62288	.	.	ENSG00000163491	ENST00000341435;ENST00000396636	T	0.71579	-0.58	5.85	5.85	0.93711	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.77837	0.4190	L	0.39633	1.23	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.76782	-0.2832	10	0.38643	T	0.18	.	15.0616	0.71958	1.0:0.0:0.0:0.0	.	172	Q6ZWH5	NEK10_HUMAN	H	172	ENSP00000343847:Y172H	ENSP00000343847:Y172H	Y	-	1	0	NEK10	27328648	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.494000	0.81503	2.222000	0.72286	0.533000	0.62120	TAC		0.478	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		9	22	0	0	0	1	0	9	22				
ZNF845	91664	broad.mit.edu	37	19	53855702	53855702	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:53855702A>G	ENST00000595091.1	+	5	1993	c.1774A>G	c.(1774-1776)Aca>Gca	p.T592A	ZNF845_ENST00000458035.1_Missense_Mutation_p.T592A			Q96IR2	ZN845_HUMAN	zinc finger protein 845	592					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(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAGTAATGCTACAACCATTGC	0.378																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1774-1776)Aca>Gca		zinc finger protein 845							73.0	61.0	65.0					19																	53855702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855702A>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1774A>G	19.37:g.53855702A>G	ENSP00000470005:p.Thr592Ala					ZNF845_ENST00000595091.1_Missense_Mutation_p.T592A	p.T592A	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1891	+			592						Missense_Mutation	SNP	ENST00000595091.1	37	c.1774A>G	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	A	4.676	0.125632	0.08931	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.50277	0.75	1.91	-3.82	0.04281	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26593	0.0650	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.08289	-1.0729	9	0.49607	T	0.09	.	4.7959	0.13272	0.6337:0.0:0.134:0.2323	.	592	Q96IR2	ZN845_HUMAN	A	592	ENSP00000388311:T592A	ENSP00000412086:T592A	T	+	1	0	ZNF845	58547514	0.001000	0.12720	0.000000	0.03702	0.096000	0.18686	0.363000	0.20301	-2.059000	0.00894	0.163000	0.16589	ACA		0.378	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	48	0	0	0	1	0	3	48				
RAD54L	8438	broad.mit.edu	37	1	46726410	46726410	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:46726410C>T	ENST00000371975.4	+	7	1163	c.489C>T	c.(487-489)ttC>ttT	p.F163F	RAD54L_ENST00000442598.1_Silent_p.F163F	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	163					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GAGTGAAATTCCTGTGGGAGT	0.562								Direct reversal of damage;Homologous recombination																														ENST00000371975.4																			0				breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25						c.(487-489)ttC>ttT	Direct reversal of damage;Homologous recombination	RAD54-like (S. cerevisiae)							62.0	58.0	59.0					1																	46726410		2203	4300	6503	SO:0001819	synonymous_variant	8438				meiosis	nucleus	ATP binding|DNA binding|helicase activity	g.chr1:46726410C>T	X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.489C>T	1.37:g.46726410C>T						RAD54L_ENST00000442598.1_Silent_p.F163F	p.F163F	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)	7	1163	+	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)	163					Q5TE31|Q6IUY3	Silent	SNP	ENST00000371975.4	37	c.489C>T	CCDS532.1																																																																																				0.562	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	NM_003579		5	97	0	0	0	1	0	5	97				
KIAA0556	23247	broad.mit.edu	37	16	27709681	27709681	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:27709681G>A	ENST00000261588.4	+	9	992	c.973G>A	c.(973-975)Gca>Aca	p.A325T	CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	325						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACCCCTGTCTGCAACCCGCAA	0.572																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(973-975)Gca>Aca		KIAA0556							87.0	99.0	95.0					16																	27709681		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27709681G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.973G>A	16.37:g.27709681G>A	ENSP00000261588:p.Ala325Thr					KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000564893.1_RNA	p.A325T	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			9	992	+			325					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.973G>A	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669888	0.88348	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.17854	2.25	5.56	5.56	0.83823	.	0.059858	0.64402	D	0.000003	T	0.36717	0.0977	L	0.55834	1.745	0.39346	D	0.96567	D;P	0.89917	1.0;0.946	D;P	0.91635	0.999;0.509	T	0.01688	-1.1295	10	0.34782	T	0.22	-6.6317	15.3705	0.74560	0.0:0.0:1.0:0.0	.	233;325	Q8N803;O60303	.;K0556_HUMAN	T	325;232	ENSP00000261588:A325T	ENSP00000261588:A325T	A	+	1	0	KIAA0556	27617182	0.989000	0.36119	0.958000	0.39756	0.985000	0.73830	5.179000	0.65043	2.766000	0.95052	0.655000	0.94253	GCA		0.572	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		58	207	0	0	0	1	0	58	207				
SIK2	23235	broad.mit.edu	37	11	111594826	111594826	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:111594826A>G	ENST00000304987.3	+	15	2927	c.2754A>G	c.(2752-2754)caA>caG	p.Q918Q	PPP2R1B_ENST00000530787.1_5'Flank	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	918					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TGGATCCACAACACAACGGGT	0.498																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(2752-2754)caA>caG		salt-inducible kinase 2							66.0	68.0	68.0					11																	111594826		2201	4297	6498	SO:0001819	synonymous_variant	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111594826A>G	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.2754A>G	11.37:g.111594826A>G							p.Q918Q	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			15	2927	+			918					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Silent	SNP	ENST00000304987.3	37	c.2754A>G	CCDS8347.1																																																																																				0.498	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		19	55	0	0	0	1	0	19	55				
RIPK4	54101	broad.mit.edu	37	21	43162146	43162146	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:43162146T>C	ENST00000352483.2	-	9	1415	c.1351A>G	c.(1351-1353)Aca>Gca	p.T451A	RIPK4_ENST00000544709.1_Missense_Mutation_p.T340A|RIPK4_ENST00000332512.3_Missense_Mutation_p.T403A|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000542057.1_Missense_Mutation_p.T340A			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	451					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGGACGTCTGTGGTGCCCAGA	0.617																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1351-1353)Aca>Gca		receptor-interacting serine-threonine kinase 4							114.0	118.0	117.0					21																	43162146		2200	4297	6497	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43162146T>C	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1351A>G	21.37:g.43162146T>C	ENSP00000330161:p.Thr451Ala					RIPK4_ENST00000332512.3_Missense_Mutation_p.T403A|RIPK4_ENST00000544709.1_Missense_Mutation_p.T340A|RIPK4_ENST00000542057.1_Missense_Mutation_p.T340A	p.T451A			Q96T11	Q96T11_HUMAN			9	1415	-			403					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.1351A>G		.	.	.	.	.	.	.	.	.	.	T	9.151	1.016327	0.19355	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	T;T;T;T	0.77620	-0.89;-0.92;-1.11;-1.11	4.98	2.62	0.31277	.	0.199476	0.34291	N	0.004083	T	0.52158	0.1717	N	0.08118	0	0.09310	N	1	B	0.26195	0.144	B	0.26094	0.066	T	0.39840	-0.9594	10	0.07482	T	0.82	-5.5381	8.4313	0.32759	0.0:0.1609:0.0:0.8391	.	403	P57078-2	.	A	403;451;340;340;142	ENSP00000332454:T403A;ENSP00000330161:T451A;ENSP00000441754:T340A;ENSP00000442901:T340A	ENSP00000330975:T142A	T	-	1	0	RIPK4	42035215	0.980000	0.34600	0.036000	0.18154	0.992000	0.81027	2.279000	0.43435	0.266000	0.21894	0.529000	0.55759	ACA		0.617	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		8	287	0	0	0	1	0	8	287				
LIN28A	79727	broad.mit.edu	37	1	26752828	26752828	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:26752828T>C	ENST00000326279.6	+	4	623	c.509T>C	c.(508-510)aTg>aCg	p.M170T	LIN28A_ENST00000254231.4_Missense_Mutation_p.M170T	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	170					germ cell development (GO:0007281)|miRNA catabolic process (GO:0010587)|negative regulation of glial cell differentiation (GO:0045686)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of translation (GO:0045727)|pre-miRNA processing (GO:0031054)|regulation of gene silencing by miRNA (GO:0060964)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						ATCAGCCATATGGTAGCCTCA	0.547																																						ENST00000326279.6																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						c.(508-510)aTg>aCg		lin-28 homolog A (C. elegans)							65.0	62.0	63.0					1																	26752828		2203	4300	6503	SO:0001583	missense	79727				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding	g.chr1:26752828T>C	AF521099	CCDS280.1	1p35.3	2013-01-09	2010-04-06	2010-04-06	ENSG00000131914	ENSG00000131914		"""Zinc fingers, CCHC domain containing"""	15986	protein-coding gene	gene with protein product		611043	"""lin-28 homolog (C. elegans)"""	LIN28		12798299	Standard	XM_006710899		Approved	LIN-28, FLJ12457, ZCCHC1, CSDD1	uc001bmj.3	Q9H9Z2	OTTHUMG00000003550	ENST00000326279.6:c.509T>C	1.37:g.26752828T>C	ENSP00000363314:p.Met170Thr					LIN28A_ENST00000254231.4_Missense_Mutation_p.M170T	p.M170T	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN			4	623	+			170						Missense_Mutation	SNP	ENST00000326279.6	37	c.509T>C	CCDS280.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.588138	0.46110	.	.	ENSG00000131914	ENST00000326279;ENST00000254231	T;T	0.44482	0.92;0.92	4.71	4.71	0.59529	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (1);	0.000000	0.85682	D	0.000000	T	0.56485	0.1988	L	0.60455	1.87	0.34717	D	0.728302	P	0.49961	0.93	P	0.59703	0.862	T	0.70594	-0.4829	10	0.87932	D	0	.	13.5249	0.61589	0.0:0.0:0.0:1.0	.	170	Q9H9Z2	LN28A_HUMAN	T	170	ENSP00000363314:M170T;ENSP00000254231:M170T	ENSP00000254231:M170T	M	+	2	0	LIN28A	26625415	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.914000	0.69964	1.979000	0.57680	0.454000	0.30748	ATG		0.547	LIN28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009891.2	NM_024674		14	123	0	0	0	1	0	14	123				
CDH22	64405	broad.mit.edu	37	20	44803673	44803673	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:44803673G>A	ENST00000372262.3	-	11	2359	c.1959C>T	c.(1957-1959)agC>agT	p.S653S	CDH22_ENST00000537909.1_Silent_p.S653S	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	653					brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				AGCTCAGGTGGCTCTTGTGGT	0.622																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1957-1959)agC>agT		cadherin 22, type 2							42.0	43.0	42.0					20																	44803673		2143	4252	6395	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44803673G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1959C>T	20.37:g.44803673G>A						CDH22_ENST00000537909.1_Silent_p.S653S	p.S653S	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			11	2359	-		Myeloproliferative disorder(115;0.0122)	653					B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.1959C>T	CCDS13395.1																																																																																				0.622	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		6	69	0	0	0	1	0	6	69				
FAM86EP	348926	broad.mit.edu	37	4	3948457	3948457	+	RNA	SNP	C	C	T	rs181211151	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:3948457C>T	ENST00000313946.8	-	0	1232				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		AGGGACAGCTCGGGGACCATG	0.627													.|||	39	0.00778754	0.0272	0.0029	5008	,	,		18671	0.0		0.001	False		,,,				2504	0.0					ENST00000313946.8																			0																																																			348926							g.chr4:3948457C>T			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3948457C>T														0	1232	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.627	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			25	80	0	0	0	1	0	25	80				
OR12D3	81797	broad.mit.edu	37	6	29342679	29342679	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:29342679C>T	ENST00000396806.3	-	1	389	c.386G>A	c.(385-387)cGc>cAc	p.R129H	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GACAGTGTAGCGAAGAGGATT	0.493																																						ENST00000396806.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						c.(385-387)cGc>cAc		olfactory receptor, family 12, subfamily D, member 3							57.0	58.0	58.0					6																	29342679		1510	2709	4219	SO:0001583	missense	81797				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29342679C>T		CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.386G>A	6.37:g.29342679C>T	ENSP00000380023:p.Arg129His					OR5V1_ENST00000377154.1_Intron	p.R129H	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN			1	389	-			129					A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	c.386G>A	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	C	1.727	-0.495175	0.04322	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.02258	4.37	4.18	0.195	0.15151	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00300	0.0009	N	0.10837	0.055	0.09310	N	0.999999	B	0.18461	0.028	B	0.12837	0.008	T	0.43458	-0.9390	9	0.02654	T	1	-4.4748	4.5294	0.11997	0.1465:0.4338:0.0:0.4197	.	129	Q9UGF7	O12D3_HUMAN	H	129	ENSP00000380023:R129H	ENSP00000366348:R129H	R	-	2	0	OR12D3	29450658	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.173000	0.09854	-0.187000	0.10516	0.195000	0.17529	CGC		0.493	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3			14	61	0	0	0	1	0	14	61				
BCL9	607	broad.mit.edu	37	1	147096415	147096415	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:147096415C>T	ENST00000234739.3	+	10	4676	c.3936C>T	c.(3934-3936)ggC>ggT	p.G1312G		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1312	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCATGCCAGGCCACAACCCCA	0.577			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(3934-3936)ggC>ggT		B-cell CLL/lymphoma 9							101.0	80.0	87.0					1																	147096415		2203	4300	6503	SO:0001819	synonymous_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147096415C>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.3936C>T	1.37:g.147096415C>T							p.G1312G	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			10	4676	+	all_hematologic(923;0.115)		1312			Pro-rich.		Q5T489	Silent	SNP	ENST00000234739.3	37	c.3936C>T	CCDS30833.1																																																																																				0.577	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		23	70	0	0	0	1	0	23	70				
HERC2P3	283755	broad.mit.edu	37	15	20658921	20658921	+	RNA	SNP	G	G	A	rs540156243	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:20658921G>A	ENST00000428453.1	-	0	1945							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACAAAACATCGCATACGGCAC	0.388													.|||	10	0.00199681	0.0	0.0	5008	,	,		28214	0.0		0.0	False		,,,				2504	0.0102					ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															28.0	33.0	31.0					15																	20658921		2032	4069	6101			283755							g.chr15:20658921G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20658921G>A														0	1945	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.388	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		14	104	0	0	0	1	0	14	104				
MAPK4	5596	broad.mit.edu	37	18	48252422	48252422	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:48252422A>G	ENST00000400384.2	+	5	1980	c.944A>G	c.(943-945)tAc>tGc	p.Y315C	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.Y104C	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	315					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		ATGAGCCCATACTCGTGCCCT	0.577																																						ENST00000400384.2																			0				lung(4)|skin(3)|upper_aerodigestive_tract(1)	8						c.(943-945)tAc>tGc		mitogen-activated protein kinase 4							117.0	121.0	120.0					18																	48252422		2088	4210	6298	SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48252422A>G	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.944A>G	18.37:g.48252422A>G	ENSP00000383234:p.Tyr315Cys					MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.Y104C	p.Y315C	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN		Colorectal(21;0.156)	5	1980	+		Colorectal(6;0.0297)	315					A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	c.944A>G	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.750866	0.69533	.	.	ENSG00000141639	ENST00000400384;ENST00000540640	T;T	0.45276	0.9;0.9	4.75	4.75	0.60458	Protein kinase-like domain (1);	0.000000	0.53938	D	0.000051	T	0.60856	0.2301	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64892	-0.6300	10	0.87932	D	0	-4.3694	13.2607	0.60102	1.0:0.0:0.0:0.0	.	315	P31152	MK04_HUMAN	C	315;104	ENSP00000383234:Y315C;ENSP00000439231:Y104C	ENSP00000383234:Y315C	Y	+	2	0	MAPK4	46506420	1.000000	0.71417	0.765000	0.31456	0.688000	0.40055	9.315000	0.96313	1.793000	0.52555	0.533000	0.62120	TAC		0.577	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		42	116	0	0	0	1	0	42	116				
OR5B12	390191	broad.mit.edu	37	11	58206860	58206860	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:58206860A>G	ENST00000302572.2	-	1	786	c.765T>C	c.(763-765)ttT>ttC	p.F255F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTAAGTACATAAAGATTCCTG	0.458																																						ENST00000302572.2																			0				large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40						c.(763-765)ttT>ttC		olfactory receptor, family 5, subfamily B, member 12							81.0	78.0	79.0					11																	58206860		2201	4295	6496	SO:0001819	synonymous_variant	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58206860A>G	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.765T>C	11.37:g.58206860A>G							p.F255F	NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN			1	786	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	255					B2RNL2|Q6IEV5	Silent	SNP	ENST00000302572.2	37	c.765T>C	CCDS31551.1																																																																																				0.458	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		28	67	0	0	0	1	0	28	67				
PCDHA2	56146	broad.mit.edu	37	5	140176132	140176132	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140176132T>C	ENST00000526136.1	+	1	1583	c.1583T>C	c.(1582-1584)gTg>gCg	p.V528A	PCDHA2_ENST00000378132.1_Missense_Mutation_p.V528A|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V528A	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	528	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGAGGAAGTGGAGCTGCTG	0.682																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1582-1584)gTg>gCg									61.0	66.0	64.0					5																	140176132		2203	4298	6501	SO:0001583	missense	56146							g.chr5:140176132T>C	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1583T>C	5.37:g.140176132T>C	ENSP00000431748:p.Val528Ala					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.V528A|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V528A	p.V528A	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1583	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1583T>C	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	t	12.81	2.049533	0.36181	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.51071	0.72;0.72;0.72	3.88	3.88	0.44766	Cadherin (5);Cadherin-like (1);	0.000000	0.31636	U	0.007316	T	0.38134	0.1029	L	0.27975	0.815	0.20196	N	0.999928	B;B;B	0.23377	0.017;0.084;0.017	B;B;B	0.35073	0.048;0.195;0.031	T	0.41538	-0.9503	10	0.87932	D	0	.	8.7051	0.34349	0.0:0.0959:0.0:0.9041	.	528;528;528	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	A	528	ENSP00000430584:V528A;ENSP00000367372:V528A;ENSP00000431748:V528A	ENSP00000367372:V528A	V	+	2	0	PCDHA2	140156316	0.030000	0.19436	1.000000	0.80357	0.929000	0.56500	1.231000	0.32624	1.551000	0.49450	0.524000	0.50904	GTG		0.682	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		65	157	0	0	0	1	0	65	157				
CACHD1	57685	broad.mit.edu	37	1	65138890	65138890	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:65138890A>G	ENST00000371073.2	+	18	2560	c.2560A>G	c.(2560-2562)Atc>Gtc	p.I854V	CACHD1_ENST00000290039.5_Missense_Mutation_p.I803V|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	854					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCCGACTCTCATCGACCCCAA	0.493																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2560-2562)Atc>Gtc		cache domain containing 1							188.0	192.0	191.0					1																	65138890		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65138890A>G	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2560A>G	1.37:g.65138890A>G	ENSP00000360113:p.Ile854Val					CACHD1_ENST00000290039.5_Missense_Mutation_p.I803V|CACHD1_ENST00000495994.1_3'UTR	p.I854V			Q5VU97	CAHD1_HUMAN			18	2560	+			854					Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.2560A>G		.	.	.	.	.	.	.	.	.	.	A	10.90	1.480278	0.26598	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.22134	1.97;1.98	5.75	4.63	0.57726	.	0.043854	0.85682	N	0.000000	T	0.08670	0.0215	L	0.46157	1.445	0.53688	D	0.999977	B	0.25563	0.129	B	0.23852	0.049	T	0.06267	-1.0836	10	0.31617	T	0.26	-17.4013	10.9386	0.47260	0.9259:0.0:0.0741:0.0	.	854	Q5VU97	CAHD1_HUMAN	V	854;803	ENSP00000360113:I854V;ENSP00000290039:I803V	ENSP00000290039:I803V	I	+	1	0	CACHD1	64911478	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	7.037000	0.76531	1.014000	0.39417	0.533000	0.62120	ATC		0.493	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		12	226	0	0	0	1	0	12	226				
TECPR2	9895	broad.mit.edu	37	14	102963965	102963965	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:102963965C>T	ENST00000359520.7	+	19	4216	c.3990C>T	c.(3988-3990)aaC>aaT	p.N1330N		NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1330					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCTGTCCAAACGGAGACCTCG	0.667																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(3988-3990)aaC>aaT		tectonin beta-propeller repeat containing 2							15.0	18.0	17.0					14																	102963965		2200	4299	6499	SO:0001819	synonymous_variant	9895						protein binding	g.chr14:102963965C>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.3990C>T	14.37:g.102963965C>T							p.N1330N	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			19	4216	+			1330					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	c.3990C>T	CCDS32162.1																																																																																				0.667	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		6	22	0	0	0	1	0	6	22				
AGAP2	116986	broad.mit.edu	37	12	58125404	58125404	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:58125404C>T	ENST00000547588.1	-	9	1974	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	AGAP2_ENST00000257897.3_Missense_Mutation_p.E323K	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	659					axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.E659K(1)|p.E323K(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CTTCGTTTCTCGGAGTCACTA	0.522																																						ENST00000257897.3																			2	Substitution - Missense(2)	p.E659K(1)|p.E323K(1)	lung(2)	breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(967-969)Gag>Aag		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							81.0	68.0	72.0					12																	58125404		2203	4300	6503	SO:0001583	missense	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58125404C>T	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1975G>A	12.37:g.58125404C>T	ENSP00000449241:p.Glu659Lys					AGAP2_ENST00000547588.1_Missense_Mutation_p.E659K	p.E323K	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN			9	1052	-			659			Interaction with PLCG1 (By similarity).		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.967G>A	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.88|13.88	2.368006|2.368006	0.42003|0.42003	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000257897;ENST00000547588;ENST00000549129|ENST00000328568	T;T|.	0.35605|.	1.45;1.3|.	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	0.639855|.	0.14949|.	N|.	0.289051|.	T|T	0.59918|0.59918	0.2229|0.2229	L|L	0.38175|0.38175	1.15|1.15	0.58432|0.58432	D|D	0.999991|0.999991	P;D;P|.	0.54964|.	0.867;0.969;0.771|.	B;P;B|.	0.45232|.	0.335;0.474;0.087|.	T|T	0.54289|0.54289	-0.8316|-0.8316	10|5	0.54805|.	T|.	0.06|.	.|.	17.3923|17.3923	0.87435|0.87435	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	323;659;659|.	Q99490-2;F8VVT9;Q99490|.	.;.;AGAP2_HUMAN|.	K|Q	323;659;15|522	ENSP00000257897:E323K;ENSP00000449241:E659K|.	ENSP00000257897:E323K|.	E|R	-|-	1|2	0|0	AGAP2|AGAP2	56411671|56411671	0.999000|0.999000	0.42202|0.42202	0.996000|0.996000	0.52242|0.52242	0.310000|0.310000	0.27922|0.27922	4.162000|4.162000	0.58177|0.58177	2.736000|2.736000	0.93811|0.93811	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.522	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		24	79	0	0	0	1	0	24	79				
PCDHGA8	9708	broad.mit.edu	37	5	140773130	140773130	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140773130A>G	ENST00000398604.2	+	1	750	c.750A>G	c.(748-750)aaA>aaG	p.K250K	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	250	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGAGTGAAAGTCCTTGAGA	0.542																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(748-750)aaA>aaG									79.0	85.0	83.0					5																	140773130		2002	4177	6179	SO:0001819	synonymous_variant	9708							g.chr5:140773130A>G	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.750A>G	5.37:g.140773130A>G						PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron	p.K250K	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	750	+								A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.750A>G	CCDS47291.1																																																																																				0.542	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		57	139	0	0	0	1	0	57	139				
POLR3A	11128	broad.mit.edu	37	10	79782066	79782066	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:79782066T>C	ENST00000372371.3	-	6	859	c.722A>G	c.(721-723)aAc>aGc	p.N241S	POLR3A_ENST00000484760.1_5'Flank	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	241					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GGCTTCTGGGTTCATCAGAAG	0.438																																						ENST00000372371.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(721-723)aAc>aGc		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							56.0	54.0	55.0					10																	79782066		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79782066T>C	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.722A>G	10.37:g.79782066T>C	ENSP00000361446:p.Asn241Ser						p.N241S	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		6	859	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		241					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.722A>G	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.325275	0.41197	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.22945	1.93	4.93	3.8	0.43715	RNA polymerase Rpb1, domain 1 (1);	0.042164	0.85682	N	0.000000	T	0.18425	0.0442	L	0.33792	1.035	0.53005	D	0.999965	B	0.17038	0.02	B	0.19946	0.027	T	0.05305	-1.0893	9	.	.	.	-24.8306	10.1394	0.42725	0.0:0.0786:0.0:0.9214	.	241	O14802	RPC1_HUMAN	S	241	ENSP00000361446:N241S	.	N	-	2	0	POLR3A	79452072	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	5.969000	0.70422	0.754000	0.32968	0.454000	0.30748	AAC		0.438	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		21	45	0	0	0	1	0	21	45				
ZNF202	7753	broad.mit.edu	37	11	123601221	123601221	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:123601221T>C	ENST00000529691.1	-	2	595	c.376A>G	c.(376-378)Aaa>Gaa	p.K126E	ZNF202_ENST00000336139.4_Missense_Mutation_p.K126E|ZNF202_ENST00000530393.1_Missense_Mutation_p.K126E			O95125	ZN202_HUMAN	zinc finger protein 202	126	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CTGGGTTGTTTCTGCAAACCC	0.587																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(376-378)Aaa>Gaa		zinc finger protein 202							121.0	110.0	114.0					11																	123601221		2202	4299	6501	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123601221T>C	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.376A>G	11.37:g.123601221T>C	ENSP00000433881:p.Lys126Glu					ZNF202_ENST00000530393.1_Missense_Mutation_p.K126E|ZNF202_ENST00000529691.1_Missense_Mutation_p.K126E	p.K126E			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	3	738	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	126			SCAN box.		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.376A>G	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.254684	0.59212	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691;ENST00000533463	T;T;T;T	0.04194	3.68;3.68;3.68;3.68	4.57	4.57	0.56435	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.254949	0.28016	N	0.016932	T	0.04227	0.0117	L	0.38531	1.155	0.33887	D	0.636911	P	0.42078	0.77	B	0.34489	0.184	T	0.37197	-0.9716	10	0.45353	T	0.12	-15.4545	10.2642	0.43445	0.0:0.0:0.0:1.0	.	126	O95125	ZN202_HUMAN	E	126	ENSP00000337724:K126E;ENSP00000432504:K126E;ENSP00000433881:K126E;ENSP00000431223:K126E	ENSP00000337724:K126E	K	-	1	0	ZNF202	123106431	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	0.763000	0.26517	1.920000	0.55613	0.374000	0.22700	AAA		0.587	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		14	188	0	0	0	1	0	14	188				
CNDP2	55748	broad.mit.edu	37	18	72185802	72185802	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:72185802C>T	ENST00000324262.4	+	10	1453	c.1137C>T	c.(1135-1137)ggC>ggT	p.G379G	CNDP2_ENST00000324301.8_Silent_p.G295G|CNDP2_ENST00000579847.1_Silent_p.G379G	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	379					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TGTACATGGGCCACGGTGGGA	0.502																																						ENST00000324262.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24						c.(1135-1137)ggC>ggT		CNDP dipeptidase 2 (metallopeptidase M20 family)							129.0	121.0	123.0					18																	72185802		2203	4300	6503	SO:0001819	synonymous_variant	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72185802C>T	AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.1137C>T	18.37:g.72185802C>T						CNDP2_ENST00000579847.1_Silent_p.G379G|CNDP2_ENST00000324301.8_Silent_p.G295G	p.G379G	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	10	1453	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	379					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Silent	SNP	ENST00000324262.4	37	c.1137C>T	CCDS12006.1																																																																																				0.502	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		31	104	0	0	0	1	0	31	104				
SPEF2	79925	broad.mit.edu	37	5	35646772	35646772	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:35646772T>A	ENST00000356031.3	+	5	743	c.589T>A	c.(589-591)Tac>Aac	p.Y197N	SPEF2_ENST00000509059.1_Missense_Mutation_p.Y197N|SPEF2_ENST00000282469.6_Missense_Mutation_p.Y197N|SPEF2_ENST00000440995.2_Missense_Mutation_p.Y197N	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	197					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TATTCAGCAATACTTAAACAG	0.303																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(589-591)Tac>Aac		sperm flagellar 2							98.0	106.0	103.0					5																	35646772		2203	4299	6502	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35646772T>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.589T>A	5.37:g.35646772T>A	ENSP00000348314:p.Tyr197Asn					SPEF2_ENST00000356031.3_Missense_Mutation_p.Y197N|SPEF2_ENST00000282469.6_Missense_Mutation_p.Y197N|SPEF2_ENST00000509059.1_Missense_Mutation_p.Y197N	p.Y197N			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	589	+	all_lung(31;7.56e-05)		197					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.589T>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.228729	0.39399	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.21543	2.36;2.36;2.36;2.0;2.36	5.76	4.88	0.63580	.	0.270584	0.36409	N	0.002606	T	0.10852	0.0265	N	0.08118	0	0.80722	D	1	B;B;B	0.31125	0.309;0.121;0.302	B;B;B	0.29785	0.107;0.043;0.075	T	0.17992	-1.0351	10	0.39692	T	0.17	.	9.738	0.40399	0.1401:0.786:0.0:0.0739	.	197;197;197	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	N	197;197;197;140;197	ENSP00000282469:Y197N;ENSP00000348314:Y197N;ENSP00000421593:Y197N;ENSP00000426259:Y140N;ENSP00000412125:Y197N	ENSP00000282469:Y197N	Y	+	1	0	SPEF2	35682529	0.989000	0.36119	1.000000	0.80357	0.839000	0.47603	1.204000	0.32296	1.425000	0.47237	-0.242000	0.12053	TAC		0.303	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		5	118	0	0	0	1	0	5	118				
CRYL1	51084	broad.mit.edu	37	13	21006355	21006355	+	Silent	SNP	G	G	A	rs189104055		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:21006355G>A	ENST00000298248.7	-	5	581	c.519C>T	c.(517-519)caC>caT	p.H173H	CRYL1_ENST00000382812.1_Silent_p.H151H|MIR4499_ENST00000584834.1_RNA|CRYL1_ENST00000480748.1_5'UTR	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	173					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		TCATCAGGGCGTGGGTTCTGT	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17340	0.0		0.0	False		,,,				2504	0.0					ENST00000382812.1																			0				NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(451-453)caC>caT		crystallin, lambda 1		G		0,4048		0,0,2024	64.0	67.0	66.0		519	0.1	0.9	13		66	6,8326		0,6,4160	no	coding-synonymous	CRYL1	NM_015974.2		0,6,6184	AA,AG,GG		0.072,0.0,0.0485		173/320	21006355	6,12374	2024	4166	6190	SO:0001819	synonymous_variant	51084				fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity	g.chr13:21006355G>A	AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"""crystallin, lamda 1"", ""L-gulonate 3-dehydrogenase"", ""lambda-crystallin homolog"""	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.519C>T	13.37:g.21006355G>A						CRYL1_ENST00000480748.1_5'UTR|CRYL1_ENST00000298248.7_Silent_p.H173H	p.H151H			Q9Y2S2	CRYL1_HUMAN		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)	6	681	-		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)	173					A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Silent	SNP	ENST00000298248.7	37	c.453C>T	CCDS41871.1																																																																																				0.582	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044071.1	NM_015974		30	69	0	0	0	1	0	30	69				
NAMPT	10135	broad.mit.edu	37	7	105894879	105894879	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:105894879T>C	ENST00000222553.3	-	9	1468	c.1161A>G	c.(1159-1161)ctA>ctG	p.L387L		NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	387					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TCAACTTCTGTAGCAAACCTC	0.358																																						ENST00000222553.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1159-1161)ctA>ctG		nicotinamide phosphoribosyltransferase							135.0	118.0	124.0					7																	105894879		2203	4300	6503	SO:0001819	synonymous_variant	10135				cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr7:105894879T>C	U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"""visfatin"""	608764	"""pre-B-cell colony enhancing factor 1"""	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.1161A>G	7.37:g.105894879T>C							p.L387L	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN			9	1468	-			387					A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Silent	SNP	ENST00000222553.3	37	c.1161A>G	CCDS5737.1																																																																																				0.358	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790		31	76	0	0	0	1	0	31	76				
PCDHA3	56145	broad.mit.edu	37	5	140182072	140182072	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140182072G>A	ENST00000522353.2	+	1	1290	c.1290G>A	c.(1288-1290)ggG>ggA	p.G430G	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.G430G|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	430	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGGGACGGGGGCTCGCCTT	0.627																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1288-1290)ggG>ggA									108.0	107.0	107.0					5																	140182072		2203	4300	6503	SO:0001819	synonymous_variant	56145							g.chr5:140182072G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1290G>A	5.37:g.140182072G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.G430G|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.G430G	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1290	+								O75286	Silent	SNP	ENST00000522353.2	37	c.1290G>A	CCDS54915.1																																																																																				0.627	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		70	222	0	0	0	1	0	70	222				
KIAA0196	9897	broad.mit.edu	37	8	126059484	126059484	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:126059484T>C	ENST00000318410.7	-	20	2818	c.2469A>G	c.(2467-2469)cgA>cgG	p.R823R	KIAA0196_ENST00000517845.1_Silent_p.R675R|KIAA0196-AS1_ENST00000519140.1_RNA	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	823					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTCTGCAGAGTCGACCAATAA	0.463																																						ENST00000318410.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(2467-2469)cgA>cgG		KIAA0196							122.0	114.0	117.0					8																	126059484		2203	4300	6503	SO:0001819	synonymous_variant	9897				cell death	WASH complex		g.chr8:126059484T>C		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2469A>G	8.37:g.126059484T>C						KIAA0196_ENST00000517845.1_Silent_p.R675R	p.R823R	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		20	2818	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		823					A8K4R7|Q3KQX5|Q8TBQ2	Silent	SNP	ENST00000318410.7	37	c.2469A>G	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.434051	0.25813	.	.	ENSG00000164961	ENST00000523273	.	.	.	5.41	-0.174	0.13319	.	.	.	.	.	T	0.39200	0.1069	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26326	-1.0106	4	.	.	.	-11.2065	0.0823	0.00032	0.2656:0.1854:0.2356:0.3135	.	.	.	.	G	440	.	.	D	-	2	0	KIAA0196	126128666	0.022000	0.18835	0.999000	0.59377	0.988000	0.76386	-0.916000	0.04029	0.036000	0.15547	0.459000	0.35465	GAC		0.463	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		8	72	0	0	0	1	0	8	72				
RET	5979	broad.mit.edu	37	10	43596084	43596084	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:43596084A>G	ENST00000355710.3	+	2	483	c.251A>G	c.(250-252)aAc>aGc	p.N84S	RET_ENST00000340058.5_Missense_Mutation_p.N84S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	84					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CATGAGAACAACTGGATCTGC	0.637		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(250-252)aAc>aGc		ret proto-oncogene	Sunitinib(DB01268)						60.0	49.0	52.0					10																	43596084		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43596084A>G	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.251A>G	10.37:g.43596084A>G	ENSP00000347942:p.Asn84Ser					RET_ENST00000340058.5_Missense_Mutation_p.N84S	p.N84S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			2	483	+		Ovarian(717;0.0423)	84					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.251A>G	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	A	4.824	0.153225	0.09185	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.77098	-0.95;-1.07	5.51	0.0138	0.14098	.	0.833488	0.11457	N	0.562212	T	0.51126	0.1656	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.32745	-0.9895	10	0.07325	T	0.83	.	2.4776	0.04580	0.4584:0.1219:0.0702:0.3495	.	84;84	P07949;P07949-2	RET_HUMAN;.	S	84	ENSP00000347942:N84S;ENSP00000344798:N84S	ENSP00000344798:N84S	N	+	2	0	RET	42916090	0.000000	0.05858	0.154000	0.22540	0.694000	0.40290	0.484000	0.22308	0.043000	0.15746	0.533000	0.62120	AAC		0.637	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		8	25	0	0	0	1	0	8	25				
ACSF3	197322	broad.mit.edu	37	16	89187260	89187260	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:89187260A>G	ENST00000317447.4	+	7	1555	c.1178A>G	c.(1177-1179)aAc>aGc	p.N393S	ACSF3_ENST00000378345.4_Missense_Mutation_p.N128S|ACSF3_ENST00000406948.3_Missense_Mutation_p.N393S	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	393					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GTCTCAGAAAACCCACAGAGG	0.602																																						ENST00000317447.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15						c.(1177-1179)aAc>aGc		acyl-CoA synthetase family member 3							167.0	164.0	165.0					16																	89187260		2198	4300	6498	SO:0001583	missense	197322				fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding	g.chr16:89187260A>G	AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"""Acyl-CoA synthetase family"""	27288	protein-coding gene	gene with protein product	"""malonyl-CoA synthetase"""	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.1178A>G	16.37:g.89187260A>G	ENSP00000320646:p.Asn393Ser					ACSF3_ENST00000406948.3_Missense_Mutation_p.N393S|ACSF3_ENST00000378345.4_Missense_Mutation_p.N128S	p.N393S	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0281)	7	1555	+			393					A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	ENST00000317447.4	37	c.1178A>G	CCDS10974.1	.	.	.	.	.	.	.	.	.	.	A	1.361	-0.588685	0.03799	.	.	ENSG00000176715	ENST00000317447;ENST00000540697;ENST00000406948;ENST00000378345;ENST00000544543	T;T;T;T;T	0.50001	0.76;2.81;0.76;0.76;0.76	4.66	-3.18	0.05186	AMP-dependent synthetase/ligase (1);	0.636671	0.16222	N	0.223984	T	0.24851	0.0603	N	0.17922	0.545	0.21220	N	0.999755	B	0.12013	0.005	B	0.18263	0.021	T	0.18085	-1.0348	10	0.20519	T	0.43	-7.4414	7.5075	0.27553	0.3743:0.2277:0.398:0.0	.	393	Q4G176	ACSF3_HUMAN	S	393;128;393;128;128	ENSP00000320646:N393S;ENSP00000445397:N128S;ENSP00000384627:N393S;ENSP00000367596:N128S;ENSP00000442781:N128S	ENSP00000320646:N393S	N	+	2	0	ACSF3	87714761	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.511000	0.06321	-0.598000	0.05806	-0.320000	0.08662	AAC		0.602	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269919.1	NM_174917		33	329	0	0	0	1	0	33	329				
RALGAPB	57148	broad.mit.edu	37	20	37146167	37146167	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:37146167C>G	ENST00000262879.6	+	8	1354	c.1070C>G	c.(1069-1071)tCa>tGa	p.S357*	RALGAPB_ENST00000537204.1_Nonsense_Mutation_p.S357*|MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.S135*|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.S357*|RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.S357*			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	357					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGACCCCGATCAGACAGTGCT	0.418																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1069-1071)tCa>tGa		Ral GTPase activating protein, beta subunit (non-catalytic)							110.0	107.0	108.0					20																	37146167		2203	4300	6503	SO:0001587	stop_gained	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37146167C>G	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1070C>G	20.37:g.37146167C>G	ENSP00000262879:p.Ser357*					RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.S357*|RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.S135*|RALGAPB_ENST00000537204.1_Nonsense_Mutation_p.S357*|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.S357*	p.S357*			Q86X10	RLGPB_HUMAN			8	1354	+			357					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Nonsense_Mutation	SNP	ENST00000262879.6	37	c.1070C>G	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	C	44	11.097821	0.99515	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000537204;ENST00000397040;ENST00000438490	.	.	.	5.14	4.14	0.48551	.	0.248099	0.40908	D	0.000985	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	15.3626	0.74492	0.0:0.8607:0.1393:0.0	.	.	.	.	X	357;357;357;135;357;357;185	.	ENSP00000262879:S357X	S	+	2	0	RALGAPB	36579581	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.265000	0.65519	2.550000	0.86006	0.555000	0.69702	TCA		0.418	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		26	93	0	0	0	1	0	26	93				
KBTBD4	55709	broad.mit.edu	37	11	47595031	47595031	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:47595031A>G	ENST00000526005.1	-	4	1161	c.1008T>C	c.(1006-1008)ggT>ggC	p.G336G	NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000395288.2_Silent_p.G336G|KBTBD4_ENST00000430070.2_Silent_p.G352G|KBTBD4_ENST00000533290.1_Silent_p.G361G|RNU5E-10P_ENST00000363506.1_RNA			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	336										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						GTGTCTTGCCACCCAGTGAAT	0.542																																						ENST00000533290.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(1081-1083)ggT>ggC		kelch repeat and BTB (POZ) domain containing 4							73.0	62.0	66.0					11																	47595031		2201	4298	6499	SO:0001819	synonymous_variant	55709							g.chr11:47595031A>G	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.1008T>C	11.37:g.47595031A>G						KBTBD4_ENST00000395288.2_Silent_p.G336G|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Silent_p.G336G|KBTBD4_ENST00000430070.2_Silent_p.G352G	p.G361G			Q9NVX7	KBTB4_HUMAN			3	1797	-			336					D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Silent	SNP	ENST00000526005.1	37	c.1083T>C	CCDS7940.1																																																																																				0.542	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		19	56	0	0	0	1	0	19	56				
MORC1	27136	broad.mit.edu	37	3	108788570	108788570	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:108788570A>T	ENST00000483760.1	-	9	767	c.724T>A	c.(724-726)Tct>Act	p.S242T	MORC1_ENST00000232603.5_Missense_Mutation_p.S242T					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TACAGAACAGATGTGTAGGCT	0.378																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(724-726)Tct>Act		MORC family CW-type zinc finger 1							104.0	101.0	102.0					3																	108788570		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108788570A>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.724T>A	3.37:g.108788570A>T	ENSP00000417282:p.Ser242Thr					MORC1_ENST00000483760.1_Missense_Mutation_p.S242T	p.S242T	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			9	806	-			242						Missense_Mutation	SNP	ENST00000483760.1	37	c.724T>A		.	.	.	.	.	.	.	.	.	.	A	15.21	2.765831	0.49574	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.74315	-0.83;-0.83	4.93	3.76	0.43208	ATPase-like, ATP-binding domain (1);	0.145347	0.32608	N	0.005871	T	0.76198	0.3954	M	0.89968	3.075	0.30887	N	0.730815	P;P	0.52316	0.952;0.643	B;B	0.40741	0.339;0.265	T	0.79701	-0.1693	10	0.59425	D	0.04	-12.3128	9.2914	0.37789	0.6277:0.3723:0.0:0.0	.	242;242	E7ERX1;Q86VD1	.;MORC1_HUMAN	T	242	ENSP00000232603:S242T;ENSP00000417282:S242T	ENSP00000232603:S242T	S	-	1	0	MORC1	110271260	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.339000	0.52135	0.985000	0.38656	0.533000	0.62120	TCT		0.378	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			17	43	0	0	0	1	0	17	43				
PROL1	58503	broad.mit.edu	37	4	71275344	71275344	+	Missense_Mutation	SNP	C	C	T	rs371348643		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:71275344C>T	ENST00000399575.2	+	3	473	c.299C>T	c.(298-300)cCg>cTg	p.P100L	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	100	Pro-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CGACTCTTTCCGGGTTATCCA	0.408																																						ENST00000399575.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15						c.(298-300)cCg>cTg		proline rich, lacrimal 1		C	LEU/PRO	1,3699		0,1,1849	206.0	193.0	197.0		299	-1.3	0.0	4		197	0,8198		0,0,4099	no	missense	PROL1	NM_021225.4	98	0,1,5948	TT,TC,CC		0.0,0.027,0.0084	benign	100/249	71275344	1,11897	1850	4099	5949	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275344C>T	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"""proline rich 1"""			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.299C>T	4.37:g.71275344C>T	ENSP00000382485:p.Pro100Leu					PROL1_ENST00000514338.1_3'UTR	p.P100L	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN			3	473	+		all_hematologic(202;0.196)	100			Pro-rich.		A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.299C>T	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	C	0.063	-1.218454	0.01542	2.7E-4	0.0	ENSG00000171199	ENST00000399575	T	0.38401	1.14	1.81	-1.32	0.09201	.	1.384370	0.05237	N	0.511430	T	0.21674	0.0522	L	0.39898	1.24	0.09310	N	1	B	0.28055	0.199	B	0.12837	0.008	T	0.13629	-1.0502	10	0.06625	T	0.88	.	4.2951	0.10897	0.3507:0.5068:0.0:0.1425	.	100	Q99935	PROL1_HUMAN	L	100	ENSP00000382485:P100L	ENSP00000382485:P100L	P	+	2	0	PROL1	71309933	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.497000	0.06428	-0.976000	0.03542	-2.838000	0.00105	CCG		0.408	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		58	165	0	0	0	1	0	58	165				
PDZRN3	23024	broad.mit.edu	37	3	73433507	73433507	+	Missense_Mutation	SNP	C	C	A	rs147152211		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:73433507C>A	ENST00000263666.4	-	10	2324	c.2210G>T	c.(2209-2211)aGa>aTa	p.R737I	PDZRN3_ENST00000462146.2_Missense_Mutation_p.R394I|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R459I|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R454I|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R394I|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	737					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GAGCTCGTGTCTGCGCACGTC	0.617																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2209-2211)aGa>aTa		PDZ domain containing ring finger 3							51.0	46.0	48.0					3																	73433507		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433507C>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2210G>T	3.37:g.73433507C>A	ENSP00000263666:p.Arg737Ile					PDZRN3_ENST00000462146.2_Missense_Mutation_p.R394I|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R459I|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R454I|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R394I	p.R737I	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2324	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	737					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2210G>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134071	0.56828	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.10860	2.83;3.53;3.42;3.42;3.53;3.51	5.16	5.16	0.70880	.	1.116410	0.06831	N	0.793985	T	0.42988	0.1227	M	0.83603	2.65	0.80722	D	1	B;D;B;D	0.89917	0.393;1.0;0.435;0.998	B;D;B;D	0.85130	0.211;0.997;0.141;0.994	T	0.03945	-1.0990	10	0.48119	T	0.1	.	18.2651	0.90050	0.0:1.0:0.0:0.0	.	459;454;454;737	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	I	737;459;394;394;454;435	ENSP00000263666:R737I;ENSP00000442026:R459I;ENSP00000418168:R394I;ENSP00000418484:R394I;ENSP00000418624:R454I;ENSP00000419250:R435I	ENSP00000263666:R737I	R	-	2	0	PDZRN3	73516197	0.955000	0.32602	0.908000	0.35775	0.808000	0.45660	3.780000	0.55386	2.393000	0.81446	0.591000	0.81541	AGA		0.617	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		15	39	1	0	3.35478e-16	1	3.52021e-16	15	39				
PRG4	10216	broad.mit.edu	37	1	186276402	186276402	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:186276402C>T	ENST00000445192.2	+	7	1596	c.1551C>T	c.(1549-1551)acC>acT	p.T517T	PRG4_ENST00000367486.3_Silent_p.T474T|PRG4_ENST00000367485.4_Silent_p.T424T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T476T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	517	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTTCACCCACCACTCCCAAGG	0.642																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1549-1551)acC>acT		proteoglycan 4							128.0	118.0	121.0					1																	186276402		2203	4299	6502	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276402C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1551C>T	1.37:g.186276402C>T						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T476T|PRG4_ENST00000367486.3_Silent_p.T474T|PRG4_ENST00000367485.4_Silent_p.T424T	p.T517T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1596	+			517			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1551C>T	CCDS1369.1																																																																																				0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	176	0	0	0	1	0	5	176				
GTF2A1L	11036	broad.mit.edu	37	2	48869597	48869597	+	Splice_Site	SNP	G	G	C	rs267599399		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:48869597G>C	ENST00000403751.3	+	4	340		c.e4+1		GTF2A1L_ENST00000430487.2_Splice_Site|STON1-GTF2A1L_ENST00000394754.1_Splice_Site|STON1-GTF2A1L_ENST00000309827.2_Splice_Site|STON1-GTF2A1L_ENST00000402114.2_Splice_Site|STON1-GTF2A1L_ENST00000394751.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Splice_Site|LHCGR_ENST00000420913.3_Intron|GTF2A1L_ENST00000468326.1_Splice_Site	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like						cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCAGAACTGGTATGTAGCTT	0.348																																						ENST00000394754.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91						c.e6+1									43.0	41.0	42.0					2																	48869597		2203	4295	6498	SO:0001630	splice_region_variant	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48869597G>C	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.303+1G>C	2.37:g.48869597G>C						STON1-GTF2A1L_ENST00000405008.1_Splice_Site|STON1-GTF2A1L_ENST00000402114.2_Splice_Site|STON1-GTF2A1L_ENST00000394751.3_Intron|GTF2A1L_ENST00000468326.1_Splice_Site|GTF2A1L_ENST00000430487.2_Splice_Site|GTF2A1L_ENST00000403751.3_Splice_Site|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000309827.2_Splice_Site		NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		6	2529	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)						B4DY14|Q53FD9|Q5D050	Splice_Site	SNP	ENST00000403751.3	37		CCDS46281.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208806	0.79240	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394749;ENST00000448460;ENST00000437125;ENST00000430487;ENST00000403751	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8842	0.86071	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STON1-GTF2A1L;GTF2A1L	48723101	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.250000	0.65432	2.753000	0.94483	0.655000	0.94253	.		0.348	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872	Intron	5	20	0	0	0	1	0	5	20				
SLC25A32	81034	broad.mit.edu	37	8	104419961	104419961	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:104419961A>G	ENST00000297578.4	-	2	372	c.206T>C	c.(205-207)tTg>tCg	p.L69S	SLC25A32_ENST00000543107.1_5'UTR	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	69					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	AATGGTAGTCAAGCAATGTAA	0.413																																						ENST00000297578.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9						c.(205-207)tTg>tCg		solute carrier family 25 (mitochondrial folate carrier), member 32	Folic Acid(DB00158)						164.0	162.0	163.0					8																	104419961		2203	4300	6503	SO:0001583	missense	81034				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity	g.chr8:104419961A>G	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.206T>C	8.37:g.104419961A>G	ENSP00000297578:p.Leu69Ser					SLC25A32_ENST00000543107.1_5'UTR	p.L69S	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		2	372	-			69					Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	c.206T>C	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.779531	0.90195	.	.	ENSG00000164933	ENST00000297578;ENST00000424899	T	0.81247	-1.47	6.05	6.05	0.98169	Mitochondrial carrier domain (2);	0.100356	0.64402	D	0.000003	D	0.83529	0.5274	L	0.58428	1.81	0.80722	D	1	P	0.37276	0.589	P	0.45610	0.487	D	0.84516	0.0625	10	0.72032	D	0.01	-7.1746	16.5932	0.84781	1.0:0.0:0.0:0.0	.	69	Q9H2D1	MFTC_HUMAN	S	69;53	ENSP00000297578:L69S	ENSP00000297578:L69S	L	-	2	0	SLC25A32	104489137	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.711000	0.91396	2.320000	0.78422	0.528000	0.53228	TTG		0.413	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		34	169	0	0	0	1	0	34	169				
ZNF48	197407	broad.mit.edu	37	16	30410127	30410127	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30410127A>G	ENST00000320159.2	+	2	1932	c.1556A>G	c.(1555-1557)aAc>aGc	p.N519S	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	519	Pro-rich.				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)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CGGCCACATAACCCACCTGGC	0.657																																						ENST00000320159.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(1555-1557)aAc>aGc		zinc finger protein 48							77.0	79.0	78.0					16																	30410127		2197	4299	6496	SO:0001583	missense	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30410127A>G	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.1556A>G	16.37:g.30410127A>G	ENSP00000324056:p.Asn519Ser						p.N519S	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN			2	1932	+			519			Pro-rich.		Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	ENST00000320159.2	37	c.1556A>G	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.116721	0.37339	.	.	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.06371	3.31	4.6	4.6	0.57074	.	0.000000	0.44483	D	0.000441	T	0.03477	0.0100	N	0.04297	-0.235	0.26308	N	0.977878	D	0.53885	0.963	P	0.46629	0.522	T	0.31943	-0.9925	10	0.02654	T	1	-11.7372	12.2545	0.54617	1.0:0.0:0.0:0.0	.	519	Q96MX3	ZNF48_HUMAN	S	644;519	ENSP00000324056:N519S	ENSP00000324056:N519S	N	+	2	0	ZNF48	30317628	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	2.783000	0.47766	2.067000	0.61834	0.455000	0.32223	AAC		0.657	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		56	143	0	0	0	1	0	56	143				
ZNF629	23361	broad.mit.edu	37	16	30794875	30794875	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30794875G>A	ENST00000262525.4	-	3	981	c.774C>T	c.(772-774)ggC>ggT	p.G258G		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGGGCTTCTCGCCGGTGTGGG	0.622																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(772-774)ggC>ggT		zinc finger protein 629							77.0	83.0	81.0					16																	30794875		2197	4300	6497	SO:0001819	synonymous_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794875G>A	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.774C>T	16.37:g.30794875G>A							p.G258G	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	981	-			258					Q15938	Silent	SNP	ENST00000262525.4	37	c.774C>T	CCDS45463.1																																																																																				0.622	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		37	101	0	0	0	1	0	37	101				
PCDHB16	57717	broad.mit.edu	37	5	140563856	140563856	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140563856G>A	ENST00000361016.2	+	1	2877	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	574	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCACTGAGCTGGTGCCCC	0.697																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1720-1722)gaG>gaA									16.0	19.0	18.0					5																	140563856		1982	3952	5934	SO:0001819	synonymous_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563856G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1722G>A	5.37:g.140563856G>A							p.E574E	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2877	+			574			Cadherin 6.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.1722G>A	CCDS4251.1																																																																																				0.697	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		5	178	0	0	0	1	0	5	178				
DNAH17	8632	broad.mit.edu	37	17	76430135	76430135	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:76430135T>C	ENST00000585328.1	-	75	12309	c.12185A>G	c.(12184-12186)tAc>tGc	p.Y4062C	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.Y4061C	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	4061	AAA 6. {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)			CAGGTAGTTGTAGAGCACGTT	0.612																																						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.(12181-12183)tAc>tGc		dynein, axonemal, heavy chain 17							241.0	198.0	212.0					17																	76430135		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76430135T>C	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.12185A>G	17.37:g.76430135T>C	ENSP00000465516:p.Tyr4062Cys					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.Y4062C	p.Y4061C					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		75	12306	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.12182A>G		.	.	.	.	.	.	.	.	.	.	T	22.0	4.226876	0.79576	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.08896	3.04	5.64	4.5	0.54988	.	0.121892	0.37393	N	0.002105	T	0.30135	0.0755	M	0.86864	2.845	0.39230	D	0.963662	D	0.76494	0.999	D	0.67231	0.95	T	0.18777	-1.0326	10	0.62326	D	0.03	.	11.6629	0.51358	0.1327:0.0:0.0:0.8673	.	4062	E7EUM8	.	C	4062;4061	ENSP00000374490:Y4061C	ENSP00000300671:Y4062C	Y	-	2	0	DNAH17	73941730	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.229000	0.51278	2.167000	0.68274	0.454000	0.30748	TAC		0.612	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		51	168	0	0	0	1	0	51	168				
PACSIN3	29763	broad.mit.edu	37	11	47201009	47201009	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:47201009A>G	ENST00000539589.1	-	7	1074	c.732T>C	c.(730-732)gaT>gaC	p.D244D	ARFGAP2_ENST00000426335.2_5'Flank|ARFGAP2_ENST00000524782.1_5'Flank|ARFGAP2_ENST00000395449.3_5'Flank|PACSIN3_ENST00000298838.6_Silent_p.D244D|ARFGAP2_ENST00000419701.2_5'Flank|ARFGAP2_ENST00000319543.6_5'Flank	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	244	F-BAR domain. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						TGAGCAGCATATCCTTGAAGA	0.567											OREG0020952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000539589.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						c.(730-732)gaT>gaC		protein kinase C and casein kinase substrate in neurons 3							60.0	60.0	60.0					11																	47201009		2201	4298	6499	SO:0001819	synonymous_variant	29763				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	g.chr11:47201009A>G	AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"""syndapin III"""	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.732T>C	11.37:g.47201009A>G			OREG0020952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	PACSIN3_ENST00000298838.6_Silent_p.D244D	p.D244D	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN			7	1074	-			244					A6NH84|Q9H331|Q9NWV9	Silent	SNP	ENST00000539589.1	37	c.732T>C	CCDS31481.1	.	.	.	.	.	.	.	.	.	.	A	8.211	0.800411	0.16397	.	.	ENSG00000165912	ENST00000415232	.	.	.	5.1	-10.2	0.00374	.	.	.	.	.	T	0.60676	0.2287	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75883	-0.3160	5	0.87932	D	0	-21.1537	8.7947	0.34872	0.1586:0.2021:0.573:0.0663	.	.	.	.	T	243	.	ENSP00000405352:I243T	I	-	2	0	PACSIN3	47157585	0.515000	0.26210	0.142000	0.22268	0.976000	0.68499	-0.147000	0.10234	-3.120000	0.00239	-1.447000	0.01057	ATA		0.567	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223		24	50	0	0	0	1	0	24	50				
KIF13A	63971	broad.mit.edu	37	6	17809131	17809131	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:17809131T>C	ENST00000259711.6	-	18	2136	c.2031A>G	c.(2029-2031)aaA>aaG	p.K677K	KIF13A_ENST00000378826.2_Silent_p.K677K|KIF13A_ENST00000378816.5_Silent_p.K677K|KIF13A_ENST00000378814.5_Silent_p.K677K|KIF13A_ENST00000378843.2_Silent_p.K677K	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	677					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCTCTCGCAGTTTTGCCAGGC	0.458																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2029-2031)aaA>aaG		kinesin family member 13A							71.0	67.0	68.0					6																	17809131		1880	4112	5992	SO:0001819	synonymous_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17809131T>C	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2031A>G	6.37:g.17809131T>C						KIF13A_ENST00000259711.6_Silent_p.K677K|KIF13A_ENST00000378816.5_Silent_p.K677K|KIF13A_ENST00000378826.2_Silent_p.K677K|KIF13A_ENST00000378843.2_Silent_p.K677K	p.K677K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		18	2030	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	677					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	c.2031A>G	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	T	9.344	1.063663	0.20067	.	.	ENSG00000137177	ENST00000358380	.	.	.	5.33	-1.39	0.08997	.	.	.	.	.	T	0.40719	0.1128	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40961	-0.9535	4	.	.	.	.	10.0235	0.42057	0.0:0.3478:0.0:0.6522	.	.	.	.	S	71	.	.	N	-	2	0	KIF13A	17917110	0.557000	0.26546	0.565000	0.28409	0.938000	0.57974	-0.250000	0.08830	-0.497000	0.06641	-1.133000	0.01973	AAC		0.458	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			3	26	0	0	0	1	0	3	26				
AKNAD1	254268	broad.mit.edu	37	1	109369904	109369904	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:109369904T>C	ENST00000370001.3	-	11	2127	c.1859A>G	c.(1858-1860)aAg>aGg	p.K620R	AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	620						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCGTGGCCCTTTTTCTCCAC	0.413																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(1858-1860)aAg>aGg		AKNA domain containing 1							183.0	188.0	186.0					1																	109369904		2203	4299	6502	SO:0001583	missense	254268							g.chr1:109369904T>C	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1859A>G	1.37:g.109369904T>C	ENSP00000359018:p.Lys620Arg					AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R	p.K620R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			11	2127	-			620					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1859A>G	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	11.26	1.586061	0.28268	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	4.87	1.29	0.21616	.	1.029790	0.07724	N	0.944149	T	0.06962	0.0177	L	0.36672	1.1	0.09310	N	1	B;B	0.15719	0.014;0.005	B;B	0.12156	0.007;0.004	T	0.40496	-0.9560	10	0.35671	T	0.21	-2.1788	6.0331	0.19690	0.0:0.3909:0.0:0.6091	.	327;620	B4DET8;Q5T1N1	.;AKND1_HUMAN	R	620;327;590;620	ENSP00000359018:K620R;ENSP00000349968:K327R;ENSP00000359011:K590R;ENSP00000359012:K620R	ENSP00000349968:K327R	K	-	2	0	AKNAD1	109171427	0.001000	0.12720	0.001000	0.08648	0.119000	0.20118	0.136000	0.15974	0.125000	0.18397	0.379000	0.24179	AAG		0.413	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		5	231	0	0	0	1	0	5	231				
ALG9	79796	broad.mit.edu	37	11	111731283	111731283	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:111731283A>G	ENST00000531154.1	-	5	511	c.39T>C	c.(37-39)ttT>ttC	p.F13F	ALG9_ENST00000398006.2_Silent_p.F13F|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	184					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		ATGATGAGCAAAACATGCCAG	0.463																																						ENST00000398006.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(37-39)ttT>ttC		ALG9, alpha-1,2-mannosyltransferase							118.0	110.0	113.0					11																	111731283		1977	4175	6152	SO:0001819	synonymous_variant	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111731283A>G		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.39T>C	11.37:g.111731283A>G						ALG9_ENST00000531154.1_Silent_p.F13F|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR	p.F13F	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	5	947	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	184					Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Silent	SNP	ENST00000531154.1	37	c.39T>C	CCDS41714.1																																																																																				0.463	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391485.1	NM_024740		15	36	0	0	0	1	0	15	36				
BPI	671	broad.mit.edu	37	20	36952337	36952337	+	Silent	SNP	C	C	T	rs201390253		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:36952337C>T	ENST00000262865.4	+	8	923	c.834C>T	c.(832-834)ccC>ccT	p.P278P	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	278					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TGGAGTTTCCCGCTGCCCATG	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		18741	0.001		0.0	False		,,,				2504	0.0					ENST00000262865.4																			0				kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.(832-834)ccC>ccT		bactericidal/permeability-increasing protein							127.0	105.0	113.0					20																	36952337		2203	4300	6503	SO:0001819	synonymous_variant	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36952337C>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.834C>T	20.37:g.36952337C>T						BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	p.P278P	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN			8	923	+		Myeloproliferative disorder(115;0.00878)	278					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	c.834C>T	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	C	3.220	-0.159733	0.06502	.	.	ENSG00000101425	ENST00000417318	T	0.08720	3.06	4.29	-3.87	0.04218	.	0.198008	0.35436	N	0.003215	T	0.03959	0.0111	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.36866	-0.9730	7	0.22109	T	0.4	-13.4317	2.9817	0.05955	0.1101:0.3214:0.1144:0.4541	.	.	.	.	L	104	ENSP00000409833:P104L	ENSP00000409833:P104L	P	+	2	0	BPI	36385751	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.575000	0.00213	-0.985000	0.03503	-2.048000	0.00412	CCG		0.537	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		4	72	0	0	0	1	0	4	72				
CCT4	10575	broad.mit.edu	37	2	62096656	62096656	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:62096656A>G	ENST00000394440.3	-	13	1820	c.1524T>C	c.(1522-1524)gtT>gtC	p.V508V	AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Silent_p.V478V|CCT4_ENST00000461540.2_5'UTR|CCT4_ENST00000538252.1_Silent_p.V452V|CCT4_ENST00000544185.1_Silent_p.V358V	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	508					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			GAGGCTGGACAACCAGTTCCT	0.438																																						ENST00000394440.3																			0				breast(1)|large_intestine(2)|lung(6)|ovary(2)	11						c.(1522-1524)gtT>gtC		chaperonin containing TCP1, subunit 4 (delta)							86.0	83.0	84.0					2																	62096656		2203	4300	6503	SO:0001819	synonymous_variant	10575				'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	g.chr2:62096656A>G		CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"""Heat Shock Proteins / Chaperonins"""	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1524T>C	2.37:g.62096656A>G						CCT4_ENST00000461540.2_5'UTR|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000538252.1_Silent_p.V452V|CCT4_ENST00000544079.1_Silent_p.V478V|CCT4_ENST00000544185.1_Silent_p.V358V	p.V508V	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)		13	1820	-	Lung NSC(7;0.035)|all_lung(7;0.0691)		508					B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Silent	SNP	ENST00000394440.3	37	c.1524T>C	CCDS33206.1																																																																																				0.438	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			11	43	0	0	0	1	0	11	43				
GNB1L	54584	broad.mit.edu	37	22	19776318	19776318	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:19776318A>G	ENST00000329517.6	-	8	1134	c.898T>C	c.(898-900)Tgc>Cgc	p.C300R	GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Missense_Mutation_p.C300R|GNB1L_ENST00000460402.1_5'UTR	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	300					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					AAGGCCACGCACTGGACAGCG	0.677																																						ENST00000329517.6																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12						c.(898-900)Tgc>Cgc		guanine nucleotide binding protein (G protein), beta polypeptide 1-like							33.0	31.0	31.0					22																	19776318		2200	4296	6496	SO:0001583	missense	54584				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19776318A>G	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.898T>C	22.37:g.19776318A>G	ENSP00000331313:p.Cys300Arg					GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000403325.1_Missense_Mutation_p.C300R|GNB1L_ENST00000405009.1_Intron	p.C300R	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN			8	1134	-	Colorectal(54;0.0993)		300					Q9H2S2|Q9H4M4	Missense_Mutation	SNP	ENST00000329517.6	37	c.898T>C	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.935655	0.52972	.	.	ENSG00000185838	ENST00000329517;ENST00000403325	T;T	0.65732	-0.17;-0.17	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.109411	0.64402	U	0.000008	T	0.74199	0.3685	L	0.56124	1.755	0.80722	D	1	D	0.67145	0.996	D	0.67382	0.951	T	0.77038	-0.2736	10	0.72032	D	0.01	-19.976	15.4152	0.74960	1.0:0.0:0.0:0.0	.	300	Q9BYB4	GNB1L_HUMAN	R	300	ENSP00000331313:C300R;ENSP00000385154:C300R	ENSP00000331313:C300R	C	-	1	0	GNB1L	18156318	1.000000	0.71417	0.969000	0.41365	0.238000	0.25445	5.109000	0.64615	2.114000	0.64651	0.533000	0.62120	TGC		0.677	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			4	61	0	0	0	1	0	4	61				
MRPL23	6150	broad.mit.edu	37	11	1977618	1977618	+	Missense_Mutation	SNP	C	C	T	rs144125617	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1977618C>T	ENST00000397298.3	+	5	515	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000381514.3_Intron|MRPL23_ENST00000381519.1_Missense_Mutation_p.R144W|MRPL23_ENST00000397294.3_Intron	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	144					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGACCCGCGGCGGGGCGGCGT	0.721																																						ENST00000397298.3																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(430-432)Cgg>Tgg		mitochondrial ribosomal protein L23		C	TRP/ARG	2,4400	4.2+/-10.8	0,2,2199	27.0	29.0	28.0		430	2.5	0.1	11	dbSNP_134	28	0,8596		0,0,4298	no	missense	MRPL23	NM_021134.3	101	0,2,6497	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	144/154	1977618	2,12996	2201	4298	6499	SO:0001583	missense	6150				translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome	g.chr11:1977618C>T	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"""Mitochondrial ribosomal proteins / large subunits"""	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.430C>T	11.37:g.1977618C>T	ENSP00000380466:p.Arg144Trp					MRPL23_ENST00000381514.3_Intron|MRPL23_ENST00000381519.1_Missense_Mutation_p.R144W|MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000397294.3_Intron	p.R144W	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)	5	515	+		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	144					A8MT29|Q96Q71	Missense_Mutation	SNP	ENST00000397298.3	37	c.430C>T	CCDS31336.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718240	0.48622	4.54E-4	0.0	ENSG00000214026	ENST00000397298;ENST00000381519	T;T	0.17854	2.25;2.25	4.42	2.47	0.30058	.	.	.	.	.	T	0.33323	0.0859	M	0.69358	2.11	0.80722	D	1	D	0.76494	0.999	D	0.64410	0.925	T	0.06899	-1.0801	9	0.87932	D	0	.	8.6364	0.33950	0.0:0.7993:0.0:0.2007	.	144	Q16540	RM23_HUMAN	W	144	ENSP00000380466:R144W;ENSP00000370930:R144W	ENSP00000370930:R144W	R	+	1	2	MRPL23	1934194	1.000000	0.71417	0.100000	0.21137	0.013000	0.08279	2.436000	0.44819	0.953000	0.37825	0.561000	0.74099	CGG		0.721	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134		18	46	0	0	0	1	0	18	46				
DCHS2	54798	broad.mit.edu	37	4	155253915	155253915	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:155253915C>G	ENST00000357232.4	-	9	1947	c.1948G>C	c.(1948-1950)Gac>Cac	p.D650H	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Missense_Mutation_p.D1149H	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	650	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATTCATAGTCAAACTGTCGC	0.483																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1948-1950)Gac>Cac		dachsous cadherin-related 2							56.0	62.0	60.0					4																	155253915		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155253915C>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1948G>C	4.37:g.155253915C>G	ENSP00000349768:p.Asp650His					DCHS2_ENST00000339452.1_Missense_Mutation_p.D1149H	p.D650H	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1947	-	all_hematologic(180;0.208)	Renal(120;0.0854)	650			Cadherin 5.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1948G>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995933	0.74703	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.70631	-0.5;-0.15	5.06	4.2	0.49525	Cadherin (3);Cadherin-like (1);	0.085070	0.46758	D	0.000268	D	0.88220	0.6378	H	0.96916	3.905	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.96	D	0.91009	0.4848	10	0.87932	D	0	.	12.1219	0.53895	0.0:0.8651:0.0:0.1349	.	1149;650	E9PC11;Q6V1P9	.;PCD23_HUMAN	H	650;1149;1149	ENSP00000349768:D650H;ENSP00000345062:D1149H	ENSP00000345062:D1149H	D	-	1	0	DCHS2	155473365	0.961000	0.32948	0.957000	0.39632	0.969000	0.65631	2.205000	0.42770	2.495000	0.84180	0.655000	0.94253	GAC		0.483	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		29	100	0	0	0	1	0	29	100				
HTR2A	3356	broad.mit.edu	37	13	47466612	47466612	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:47466612C>T	ENST00000378688.4	-	2	657	c.526G>A	c.(526-528)Gcc>Acc	p.A176T	HTR2A_ENST00000542664.1_Missense_Mutation_p.A176T|HTR2A_ENST00000543956.1_Missense_Mutation_p.A92T			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	176					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.A176T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTCTGGATGGCGACGTAGCGG	0.527																																						ENST00000378688.4																			1	Substitution - Missense(1)	p.A176T(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(526-528)Gcc>Acc		5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						247.0	238.0	241.0					13																	47466612		2203	4300	6503	SO:0001583	missense	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47466612C>T	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.526G>A	13.37:g.47466612C>T	ENSP00000367959:p.Ala176Thr					HTR2A_ENST00000542664.1_Missense_Mutation_p.A176T|HTR2A_ENST00000543956.1_Missense_Mutation_p.A92T	p.A176T			P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	2	657	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	176					B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	c.526G>A	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	C	36	5.860701	0.97036	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.53423	0.62;0.62;0.62	6.16	6.16	0.99307	GPCR, rhodopsin-like superfamily (1);	0.056380	0.64402	D	0.000001	T	0.80894	0.4711	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.964;0.994	D	0.86003	0.1496	10	0.87932	D	0	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	92;176	F5GWE8;P28223	.;5HT2A_HUMAN	T	176;92;176	ENSP00000367959:A176T;ENSP00000441861:A92T;ENSP00000437737:A176T	ENSP00000367959:A176T	A	-	1	0	HTR2A	46364613	1.000000	0.71417	0.971000	0.41717	0.959000	0.62525	7.736000	0.84948	2.937000	0.99478	0.650000	0.86243	GCC		0.527	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		113	317	0	0	0	1	0	113	317				
NKPD1	284353	broad.mit.edu	37	19	45655588	45655588	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:45655588T>C	ENST00000438936.2	-	3	1652	c.1441A>G	c.(1441-1443)Acc>Gcc	p.T481A	NKPD1_ENST00000317951.4_Missense_Mutation_p.T703A|NKPD1_ENST00000589776.1_Missense_Mutation_p.T481A|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000429338.1_Intron			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	481						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TTGGTCATGGTGTGCAGCTCG	0.716																																						ENST00000317951.4																			0				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8						c.(2107-2109)Acc>Gcc		NTPase, KAP family P-loop domain containing 1							14.0	16.0	15.0					19																	45655588		2012	4148	6160	SO:0001583	missense	284353							g.chr19:45655588T>C	AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1441A>G	19.37:g.45655588T>C	ENSP00000401739:p.Thr481Ala					NKPD1_ENST00000429338.1_Intron|NKPD1_ENST00000589776.1_Missense_Mutation_p.T481A|NKPD1_ENST00000438936.2_Missense_Mutation_p.T481A	p.T703A	NM_198478.3	NP_940880.3				OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	4	2106	-		Ovarian(192;0.0728)|all_neural(266;0.112)						B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	ENST00000438936.2	37	c.2107A>G		.	.	.	.	.	.	.	.	.	.	T	12.36	1.915604	0.33815	.	.	ENSG00000179846	ENST00000317951;ENST00000438936	T;T	0.45276	0.9;0.91	5.43	0.945	0.19543	.	0.419948	0.14280	U	0.329580	T	0.19287	0.0463	N	0.14661	0.345	0.80722	D	1	B	0.12630	0.006	B	0.11329	0.006	T	0.09707	-1.0662	10	0.15499	T	0.54	-15.4254	3.3066	0.07002	0.4397:0.1651:0.0:0.3952	.	481	Q17RQ9	NKPD1_HUMAN	A	703;481	ENSP00000321976:T703A;ENSP00000401739:T481A	ENSP00000321976:T703A	T	-	1	0	NKPD1	50347428	0.103000	0.21917	0.995000	0.50966	0.959000	0.62525	-0.716000	0.04991	0.034000	0.15491	0.459000	0.35465	ACC		0.716	NKPD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000360950.2	NM_198478		7	28	0	0	0	1	0	7	28				
ALK	238	broad.mit.edu	37	2	29443576	29443576	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:29443576C>T	ENST00000389048.3	-	23	4547	c.3641G>A	c.(3640-3642)cGc>cAc	p.R1214H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1214	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	ACTCACCGGGCGAGGGCGGGT	0.617			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(3640-3642)cGc>cAc		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						43.0	42.0	43.0					2																	29443576		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29443576C>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3641G>A	2.37:g.29443576C>T	ENSP00000373700:p.Arg1214His					ALK_ENST00000431873.1_Intron	p.R1214H	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			23	4547	-	Acute lymphoblastic leukemia(172;0.155)		1214			Protein kinase.		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.3641G>A	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	c	22.9	4.351371	0.82132	.	.	ENSG00000171094	ENST00000389048	D	0.89270	-2.49	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44688	U	0.000431	D	0.82370	0.5022	L	0.35249	1.045	0.80722	D	1	P	0.35700	0.516	B	0.22880	0.042	T	0.80171	-0.1493	9	.	.	.	.	19.9902	0.97362	0.0:1.0:0.0:0.0	.	1214	Q9UM73	ALK_HUMAN	H	1214	ENSP00000373700:R1214H	.	R	-	2	0	ALK	29297080	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.001000	0.57046	2.796000	0.96246	0.645000	0.84053	CGC		0.617	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		11	44	0	0	0	1	0	11	44				
PARP4	143	broad.mit.edu	37	13	25073511	25073511	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:25073511A>G	ENST00000381989.3	-	5	510	c.405T>C	c.(403-405)ttT>ttC	p.F135F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	135					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCTGCATACCAAACCTGAAAT	0.269																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(403-405)ttT>ttC		poly (ADP-ribose) polymerase family, member 4							38.0	40.0	39.0					13																	25073511		2202	4291	6493	SO:0001819	synonymous_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25073511A>G	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.405T>C	13.37:g.25073511A>G							p.F135F	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	5	510	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	135					O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	c.405T>C	CCDS9307.1																																																																																				0.269	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		9	23	0	0	0	1	0	9	23				
SLIT3	6586	broad.mit.edu	37	5	168093656	168093656	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:168093656G>A	ENST00000519560.1	-	36	4794	c.4375C>T	c.(4375-4377)Cgc>Tgc	p.R1459C	CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.R1466C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1459	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.R1459S(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTGGCGGCGGATCACCTCT	0.607																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			2	Substitution - Missense(2)	p.R1459S(2)	lung(2)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(4375-4377)Cgc>Tgc		slit homolog 3 (Drosophila)							80.0	78.0	78.0					5																	168093656		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168093656G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4375C>T	5.37:g.168093656G>A	ENSP00000430333:p.Arg1459Cys					CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.R1466C	p.R1459C	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		36	4794	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1459			CTCK.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.4375C>T	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694024	0.88735	.	.	ENSG00000184347	ENST00000519560;ENST00000332966	T;T	0.77358	-1.09;-1.08	5.08	5.08	0.68730	Cystine knot, C-terminal (2);	0.254594	0.43919	D	0.000503	T	0.81574	0.4851	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	P	0.51701	0.677	D	0.84142	0.0418	10	0.72032	D	0.01	.	18.4917	0.90851	0.0:0.0:1.0:0.0	.	1459	O75094	SLIT3_HUMAN	C	1459;1466	ENSP00000430333:R1459C;ENSP00000332164:R1466C	ENSP00000332164:R1466C	R	-	1	0	SLIT3	168026234	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.898000	0.56281	2.362000	0.80069	0.555000	0.69702	CGC		0.607	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		22	71	0	0	0	1	0	22	71				
CLCN2	1181	broad.mit.edu	37	3	184072050	184072050	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:184072050G>A	ENST00000265593.4	-	15	1731	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Silent_p.I476I|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000344937.7_Silent_p.I503I|CLCN2_ENST00000457512.1_Silent_p.I520I|CLCN2_ENST00000475279.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	520					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GCTCGAACACGATCACAGCCG	0.627											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1558-1560)atC>atT		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						77.0	61.0	66.0					3																	184072050		2203	4300	6503	SO:0001819	synonymous_variant	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184072050G>A	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1560C>T	3.37:g.184072050G>A			OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1989	CLCN2_ENST00000344937.7_Silent_p.I503I|CLCN2_ENST00000434054.2_Silent_p.I476I|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Silent_p.I520I	p.I520I	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		15	1731	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		520					B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Silent	SNP	ENST00000265593.4	37	c.1560C>T	CCDS3263.1																																																																																				0.627	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			15	33	0	0	0	1	0	15	33				
ZNF587	84914	broad.mit.edu	37	19	58367483	58367483	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:58367483G>A	ENST00000339656.5	+	2	227	c.45G>A	c.(43-45)gtG>gtA	p.V15V	ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000423137.1_Silent_p.V14V|ZNF587_ENST00000419854.1_5'UTR|CTD-2583A14.10_ENST00000598031.1_Silent_p.V15V|ZNF814_ENST00000597342.1_Intron|ZNF587B_ENST00000316462.4_Missense_Mutation_p.D164N|ZNF814_ENST00000597652.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	15	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		AGGGCACTGTGACCTTTGAAG	0.537																																					Pancreas(59;641 1233 1885 20055 50741)	ENST00000316462.4																			0											c.(490-492)Gac>Aac		zinc finger protein 587B							177.0	146.0	156.0					19																	58367483		2203	4300	6503	SO:0001819	synonymous_variant	100293516				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58367483G>A	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.45G>A	19.37:g.58367483G>A						ZNF587_ENST00000423137.1_Silent_p.V14V|ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000419854.1_5'UTR|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597652.1_Intron|ZNF814_ENST00000596604.1_Intron|CTD-2583A14.10_ENST00000598031.1_Silent_p.V15V|ZNF587_ENST00000339656.5_Silent_p.V15V	p.D164N			B4DR41	B4DR41_HUMAN			4	672	+			0					A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	ENST00000339656.5	37	c.490G>A	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	9.879	1.200931	0.22121	.	.	ENSG00000198466	ENST00000316462	T	0.00717	5.79	1.58	1.58	0.23477	.	.	.	.	.	T	0.00666	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	T	0.35919	-0.9769	5	0.11794	T	0.64	.	9.0987	0.36656	0.0:0.0:1.0:0.0	.	.	.	.	N	164	ENSP00000350696:D164N	ENSP00000350696:D164N	D	+	1	0	ZNF587	63059295	0.999000	0.42202	0.663000	0.29738	0.552000	0.35366	2.672000	0.46850	1.192000	0.43071	0.205000	0.17691	GAC		0.537	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		5	215	0	0	0	1	0	5	215				
GPR115	221393	broad.mit.edu	37	6	47682009	47682009	+	Missense_Mutation	SNP	G	G	A	rs138156132	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:47682009G>A	ENST00000283303.2	+	6	1286	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	GPR115_ENST00000327753.3_Missense_Mutation_p.R343H|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Missense_Mutation_p.R400H	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	343					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AATAAAACCCGCAATGCCAGA	0.458																																					GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(1027-1029)cGc>cAc		G protein-coupled receptor 115							90.0	92.0	91.0					6																	47682009		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682009G>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1028G>A	6.37:g.47682009G>A	ENSP00000283303:p.Arg343His					GPR115_ENST00000327753.3_Missense_Mutation_p.R343H|GPR115_ENST00000371220.1_Missense_Mutation_p.R400H	p.R343H	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			6	1286	+			343					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.1028G>A	CCDS4922.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	2.286	-0.363490	0.05103	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.35236	1.57;1.32;1.32	5.04	-7.29	0.01451	.	1.117400	0.06632	N	0.759358	T	0.04998	0.0134	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.37753	-0.9692	10	0.48119	T	0.1	-0.4995	5.5884	0.17287	0.6183:0.0906:0.1083:0.1828	.	343	Q8IZF3	GP115_HUMAN	H	400;343;343	ENSP00000360264:R400H;ENSP00000328319:R343H;ENSP00000283303:R343H	ENSP00000283303:R343H	R	+	2	0	GPR115	47789968	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.487000	0.06505	-1.268000	0.02439	-1.665000	0.00749	CGC		0.458	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		16	88	0	0	0	1	0	16	88				
SPG20	23111	broad.mit.edu	37	13	36909285	36909285	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:36909285A>G	ENST00000451493.1	-	2	900	c.683T>C	c.(682-684)gTa>gCa	p.V228A	SPG20_ENST00000438666.2_Missense_Mutation_p.V228A|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.V228A|SPG20_ENST00000494062.2_Missense_Mutation_p.V228A	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	228					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		AAAAATCTGTACTCCATTTGG	0.428																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(682-684)gTa>gCa		spastic paraplegia 20 (Troyer syndrome)							66.0	68.0	67.0					13																	36909285		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36909285A>G	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.683T>C	13.37:g.36909285A>G	ENSP00000414147:p.Val228Ala					SPG20_ENST00000355182.4_Missense_Mutation_p.V228A|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Missense_Mutation_p.V228A|SPG20_ENST00000494062.2_Missense_Mutation_p.V228A	p.V228A	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	2	900	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	228					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.683T>C	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.750451	0.89753	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.94828	-3.53;-3.53;-3.53	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.96747	0.8938	M	0.77486	2.375	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.991;0.996	D	0.95654	0.8709	10	0.15952	T	0.53	-27.9874	16.188	0.81967	1.0:0.0:0.0:0.0	.	228;228;228	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	A	228	ENSP00000406061:V228A;ENSP00000347314:V228A;ENSP00000414147:V228A	ENSP00000347314:V228A	V	-	2	0	SPG20	35807285	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.463000	0.90377	2.216000	0.71823	0.528000	0.53228	GTA		0.428	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			29	95	0	0	0	1	0	29	95				
ITGA9	3680	broad.mit.edu	37	3	37574875	37574875	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:37574875T>C	ENST00000264741.5	+	14	1700	c.1444T>C	c.(1444-1446)Tgt>Cgt	p.C482R	ITGA9_ENST00000422441.1_Missense_Mutation_p.C482R	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	482					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AGCGCCTCAGTGTCACGACGG	0.552																																						ENST00000264741.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(1444-1446)Tgt>Cgt		integrin, alpha 9							113.0	83.0	93.0					3																	37574875		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37574875T>C	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.1444T>C	3.37:g.37574875T>C	ENSP00000264741:p.Cys482Arg					ITGA9_ENST00000422441.1_Missense_Mutation_p.C482R	p.C482R	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	14	1700	+			482					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.1444T>C	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.776580	0.90195	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	T;T	0.76186	-1.0;-1.0	6.07	6.07	0.98685	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	D	0.86674	0.5989	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.88066	0.2797	10	0.87932	D	0	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	482;482	Q13797;E9PDS3	ITA9_HUMAN;.	R	482	ENSP00000397258:C482R;ENSP00000264741:C482R	ENSP00000264741:C482R	C	+	1	0	ITGA9	37549879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.937000	0.87672	2.326000	0.78906	0.533000	0.62120	TGT		0.552	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		20	61	0	0	0	1	0	20	61				
ENPP3	5169	broad.mit.edu	37	6	132068068	132068068	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:132068068A>G	ENST00000414305.1	+	26	2928	c.2600A>G	c.(2599-2601)tAt>tGt	p.Y867C	ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.Y867C			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	867	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CTAAAGACATATTTACCAACA	0.328																																						ENST00000414305.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2599-2601)tAt>tGt		ectonucleotide pyrophosphatase/phosphodiesterase 3							44.0	46.0	46.0					6																	132068068		2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132068068A>G	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.2600A>G	6.37:g.132068068A>G	ENSP00000406261:p.Tyr867Cys					ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.Y867C	p.Y867C			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	26	2928	+	Breast(56;0.0753)		867			Nuclease.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.2600A>G	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.167331	0.38315	.	.	ENSG00000154269	ENST00000414305;ENST00000357639	T;T	0.74737	-0.87;-0.87	5.63	2.86	0.33363	.	0.089326	0.47455	D	0.000230	T	0.74291	0.3697	M	0.71581	2.175	0.80722	D	1	D	0.67145	0.996	P	0.57776	0.827	T	0.77117	-0.2706	10	0.66056	D	0.02	-19.536	10.0637	0.42290	0.6182:0.0:0.0:0.3818	.	867	O14638	ENPP3_HUMAN	C	867	ENSP00000406261:Y867C;ENSP00000350265:Y867C	ENSP00000350265:Y867C	Y	+	2	0	ENPP3	132109761	1.000000	0.71417	0.844000	0.33320	0.240000	0.25518	2.452000	0.44961	1.047000	0.40274	-0.468000	0.05107	TAT		0.328	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			12	38	0	0	0	1	0	12	38				
RIMKLB	57494	broad.mit.edu	37	12	8866471	8866471	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:8866471T>C	ENST00000538135.1	+	2	834	c.9T>C	c.(7-9)agT>agC	p.S3S	RIMKLB_ENST00000357529.3_Silent_p.S3S|RIMKLB_ENST00000535829.1_Silent_p.S3S|RIMKLB_ENST00000299673.5_3'UTR			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	3					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGATGTGTAGTTCTGTGGCTG	0.408																																						ENST00000357529.3																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(7-9)agT>agC		ribosomal modification protein rimK-like family member B							116.0	119.0	118.0					12																	8866471		1949	4139	6088	SO:0001819	synonymous_variant	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8866471T>C	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.9T>C	12.37:g.8866471T>C						RIMKLB_ENST00000538135.1_Silent_p.S3S|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000535829.1_Silent_p.S3S	p.S3S	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN			3	1271	+			3					B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Silent	SNP	ENST00000538135.1	37	c.9T>C	CCDS41748.1																																																																																				0.408	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		16	73	0	0	0	1	0	16	73				
NBPF18P	441908	broad.mit.edu	37	1	151993729	151993729	+	RNA	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:151993729G>A	ENST00000432386.1	+	0	2564					NR_103561.1				neuroblastoma breakpoint family, member 18, pseudogene																		GATGCCTCCCGCTCATTGAAT	0.552																																						ENST00000432386.1																			0																																																			441908							g.chr1:151993729G>A			1q21.3	2013-01-17	2011-04-15			ENSG00000229021		"""neuroblastoma breakpoint family"""	31998	pseudogene	pseudogene						16079250	Standard	NR_103561		Approved						1.37:g.151993729G>A								NR_103561.1						0	2564	+									RNA	SNP	ENST00000432386.1	37																																																																																						0.552	NBPF18P-001	KNOWN	basic	antisense	antisense	OTTHUMT00000036629.1			24	95	0	0	0	1	0	24	95				
ZNF765	91661	broad.mit.edu	37	19	53905357	53905357	+	Missense_Mutation	SNP	C	C	G	rs371658637		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:53905357C>G	ENST00000396408.3	+	3	172	c.55C>G	c.(55-57)Cag>Gag	p.Q19E	ZNF765_ENST00000594030.1_Missense_Mutation_p.Q19E	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	19	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		AGAATTCTCTCAGGAGGAGTG	0.448																																						ENST00000396408.3																			0				endometrium(1)|lung(3)	4						c.(55-57)Cag>Gag		zinc finger protein 765							80.0	88.0	86.0					19																	53905357		1507	2694	4201	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53905357C>G	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.55C>G	19.37:g.53905357C>G	ENSP00000379689:p.Gln19Glu					ZNF765_ENST00000594030.1_Missense_Mutation_p.Q19E	p.Q19E	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	3	172	+			19			KRAB.		A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.55C>G	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	C	0.217	-1.031921	0.02029	.	.	ENSG00000196417	ENST00000396408	T	0.02032	4.49	1.47	-1.03	0.10102	Krueppel-associated box (4);	.	.	.	.	T	0.03011	0.0089	L	0.49571	1.57	0.09310	N	1	P	0.37688	0.605	B	0.43445	0.42	T	0.41106	-0.9527	9	0.41790	T	0.15	.	2.6223	0.04920	0.0:0.3176:0.2663:0.4161	.	19	Q7L2R6	ZN765_HUMAN	E	19	ENSP00000379689:Q19E	ENSP00000379689:Q19E	Q	+	1	0	ZNF765	58597169	0.000000	0.05858	0.098000	0.21074	0.141000	0.21300	-0.679000	0.05203	-0.031000	0.13781	0.184000	0.17185	CAG		0.448	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		35	150	0	0	0	1	0	35	150				
FLVCR1	28982	broad.mit.edu	37	1	213062505	213062505	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:213062505C>T	ENST00000366971.4	+	8	1629	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	477					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GAATTTTGTTCACATTGGCTC	0.303																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12						c.(1429-1431)ttC>ttT		feline leukemia virus subgroup C cellular receptor 1							112.0	111.0	111.0					1																	213062505		2203	4300	6503	SO:0001819	synonymous_variant	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213062505C>T	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.1431C>T	1.37:g.213062505C>T						FLVCR1_ENST00000483790.1_3'UTR	p.F477F	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	8	1629	+			477					Q1HE16|Q86XY9|Q9NVR9	Silent	SNP	ENST00000366971.4	37	c.1431C>T	CCDS1510.1	.	.	.	.	.	.	.	.	.	.	C	8.794	0.931286	0.18131	.	.	ENSG00000162769	ENST00000419102	.	.	.	5.83	3.74	0.42951	.	.	.	.	.	T	0.59770	0.2218	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57522	-0.7797	4	.	.	.	-18.8597	9.9392	0.41570	0.0:0.7517:0.0:0.2483	.	.	.	.	L	276	.	.	S	+	2	0	FLVCR1	211129128	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.632000	0.24583	1.468000	0.48064	0.557000	0.71058	TCA		0.303	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		19	74	0	0	0	1	0	19	74				
SND1	27044	broad.mit.edu	37	7	127714648	127714648	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:127714648A>G	ENST00000354725.3	+	17	2068	c.1874A>G	c.(1873-1875)cAc>cGc	p.H625R		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	625	TNase-like 4. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CTGGTGGAGCACGCGCTCTCC	0.602																																						ENST00000354725.3																			0				central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(1873-1875)cAc>cGc		staphylococcal nuclease and tudor domain containing 1							106.0	69.0	82.0					7																	127714648		2203	4300	6503	SO:0001583	missense	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127714648A>G		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1874A>G	7.37:g.127714648A>G	ENSP00000346762:p.His625Arg						p.H625R	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN			17	2068	+			625			TNase-like 4.		Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	c.1874A>G	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	A	12.07	1.826503	0.32329	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.27557	1.66	5.36	5.36	0.76844	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.409496	0.30602	N	0.009261	T	0.20292	0.0488	N	0.17082	0.46	0.36765	D	0.883508	B	0.06786	0.001	B	0.11329	0.006	T	0.12682	-1.0538	10	0.29301	T	0.29	-2.387	13.3	0.60319	1.0:0.0:0.0:0.0	.	625	Q7KZF4	SND1_HUMAN	R	625;615	ENSP00000346762:H625R	ENSP00000346762:H625R	H	+	2	0	SND1	127501884	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	4.582000	0.60957	2.038000	0.60285	0.379000	0.24179	CAC		0.602	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		4	38	0	0	0	1	0	4	38				
PIK3C3	5289	broad.mit.edu	37	18	39647368	39647368	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:39647368G>A	ENST00000262039.4	+	24	2626	c.2540G>A	c.(2539-2541)cGc>cAc	p.R847H	PIK3C3_ENST00000588156.1_Missense_Mutation_p.R71H|PIK3C3_ENST00000587328.1_Missense_Mutation_p.R25H|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R784H|PIK3C3_ENST00000593098.1_Missense_Mutation_p.R332H	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	847	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|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)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GATAAATTCCGCTTAGACCTG	0.413										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	ENST00000262039.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						c.(2539-2541)cGc>cAc		phosphatidylinositol 3-kinase, catalytic subunit type 3							139.0	123.0	129.0					18																	39647368		2203	4300	6503	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39647368G>A	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2540G>A	18.37:g.39647368G>A	ENSP00000262039:p.Arg847His	TSP Lung(28;0.18)				PIK3C3_ENST00000588156.1_Missense_Mutation_p.R71H|PIK3C3_ENST00000587328.1_Missense_Mutation_p.R25H|PIK3C3_ENST00000593098.1_Missense_Mutation_p.R332H|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R784H	p.R847H	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN			24	2626	+			847			PI3K/PI4K.		Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.2540G>A	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466545	0.63625	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.81499	-1.5;-1.5	5.35	5.35	0.76521	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	L	0.41124	1.26	0.80722	D	1	P;P	0.52842	0.956;0.598	B;B	0.40477	0.33;0.111	T	0.75241	-0.3387	9	.	.	.	.	19.0646	0.93104	0.0:0.0:1.0:0.0	.	784;847	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	H	847;784	ENSP00000262039:R847H;ENSP00000381845:R784H	.	R	+	2	0	PIK3C3	37901366	1.000000	0.71417	0.973000	0.42090	0.947000	0.59692	9.246000	0.95438	2.510000	0.84645	0.585000	0.79938	CGC		0.413	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		7	54	0	0	0	1	0	7	54				
DNASE1L2	1775	broad.mit.edu	37	16	2287441	2287441	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2287441G>T	ENST00000564065.1	+	4	1383	c.382G>T	c.(382-384)Gag>Tag	p.E128*	DNASE1L2_ENST00000567494.1_Nonsense_Mutation_p.E128*|RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000320700.5_Nonsense_Mutation_p.E128*|DNASE1L2_ENST00000382437.4_Nonsense_Mutation_p.E128*			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2	128					corneocyte development (GO:0003335)|DNA metabolic process (GO:0006259)|hair follicle development (GO:0001942)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			endometrium(1)|prostate(1)|skin(2)	4						CTTCAGCCGCGAGCCCTTCGT	0.711																																						ENST00000564065.1																			0				endometrium(1)|prostate(1)|skin(2)	4						c.(382-384)Gag>Tag		deoxyribonuclease I-like 2							15.0	17.0	16.0					16																	2287441		1877	4103	5980	SO:0001587	stop_gained	1775				DNA catabolic process	extracellular region	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding	g.chr16:2287441G>T	U62647	CCDS42105.1	16p13.3	2008-02-05				ENSG00000167968			2958	protein-coding gene	gene with protein product		602622				9205125, 1577479	Standard	NM_001374		Approved	DNAS1L2	uc002cpp.3	Q92874		ENST00000564065.1:c.382G>T	16.37:g.2287441G>T	ENSP00000454562:p.Glu128*					DNASE1L2_ENST00000567494.1_Nonsense_Mutation_p.E128*|DNASE1L2_ENST00000382437.4_Nonsense_Mutation_p.E128*|DNASE1L2_ENST00000320700.5_Nonsense_Mutation_p.E128*	p.E128*			Q92874	DNSL2_HUMAN			4	1383	+			128					E9PBY4|Q6JVM2|Q6JVM3	Nonsense_Mutation	SNP	ENST00000564065.1	37	c.382G>T	CCDS42105.1	.	.	.	.	.	.	.	.	.	.	g	11.79	1.744271	0.30865	.	.	ENSG00000167968	ENST00000541838;ENST00000320700;ENST00000382437	.	.	.	3.95	3.95	0.45737	.	0.193711	0.43260	D	0.000584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-3.1766	10.8825	0.46946	0.0:0.1917:0.8083:0.0	.	.	.	.	X	128	.	ENSP00000316938:E128X	E	+	1	0	DNASE1L2	2227442	0.999000	0.42202	0.331000	0.25455	0.744000	0.42396	5.190000	0.65104	2.021000	0.59480	0.493000	0.49557	GAG		0.711	DNASE1L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435236.1	NM_001374		4	14	1	0	3.59834e-05	1	3.66827e-05	4	14				
TP53BP1	7158	broad.mit.edu	37	15	43748260	43748260	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:43748260A>G	ENST00000263801.3	-	12	2783	c.2531T>C	c.(2530-2532)tTa>tCa	p.L844S	TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000450115.2_Missense_Mutation_p.L849S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.L849S|TP53BP1_ENST00000382044.4_Missense_Mutation_p.L849S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	844					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GTCAAGTCTTAAAGGATCATC	0.423								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(2530-2532)tTa>tCa	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							177.0	174.0	175.0					15																	43748260		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43748260A>G	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2531T>C	15.37:g.43748260A>G	ENSP00000263801:p.Leu844Ser					TP53BP1_ENST00000382044.4_Missense_Mutation_p.L849S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.L849S|TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000450115.2_Missense_Mutation_p.L849S	p.L844S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	12	2783	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	844					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.2531T>C	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	A	0.969	-0.700892	0.03255	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.11495	3.72;3.72;3.7;3.72;2.77	5.37	-10.7	0.00240	.	1.630330	0.03327	N	0.192729	T	0.05823	0.0152	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.33583	0.418;0.047;0.078;0.078	B;B;B;B	0.27380	0.079;0.016;0.036;0.036	T	0.09862	-1.0655	10	0.09338	T	0.73	28.996	6.5204	0.22272	0.6419:0.0823:0.1106:0.1651	.	849;844;849;849	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	S	844;849;849;849;849	ENSP00000263801:L844S;ENSP00000371475:L849S;ENSP00000371470:L849S;ENSP00000393497:L849S;ENSP00000388028:L849S	ENSP00000263801:L844S	L	-	2	0	TP53BP1	41535552	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.763000	0.01802	-2.983000	0.00282	-0.256000	0.11100	TTA		0.423	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			61	101	0	0	0	1	0	61	101				
THRA	7067	broad.mit.edu	37	17	38249565	38249565	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:38249565A>G	ENST00000264637.4	+	10	1983	c.1403A>G	c.(1402-1404)gAc>gGc	p.D468G	NR1D1_ENST00000246672.3_Intron|THRA_ENST00000394121.4_Missense_Mutation_p.D468G|THRA_ENST00000584985.1_Missense_Mutation_p.D429G	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	468					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGTGAGGCGGACTCCCCGAGC	0.657																																						ENST00000264637.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(1402-1404)gAc>gGc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						26.0	29.0	28.0					17																	38249565		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38249565A>G	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.1403A>G	17.37:g.38249565A>G	ENSP00000264637:p.Asp468Gly					THRA_ENST00000394121.4_Missense_Mutation_p.D468G|NR1D1_ENST00000246672.3_Intron|THRA_ENST00000584985.1_Missense_Mutation_p.D429G	p.D468G	NM_003250.5	NP_003241.2	P10827	THA_HUMAN			10	1983	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	468					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.1403A>G	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	A	0.143	-1.100288	0.01843	.	.	ENSG00000126351	ENST00000394121;ENST00000264637	D;D	0.92446	-3.04;-3.04	5.25	-0.189	0.13260	.	1.132850	0.06912	N	0.807856	T	0.80670	0.4667	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.62863	-0.6764	10	0.42905	T	0.14	.	7.8056	0.29200	0.4578:0.0:0.5422:0.0	.	429;468	P10827-3;P10827	.;THA_HUMAN	G	468	ENSP00000377679:D468G;ENSP00000264637:D468G	ENSP00000264637:D468G	D	+	2	0	THRA	35503091	0.000000	0.05858	0.961000	0.40146	0.940000	0.58332	-0.420000	0.07062	-0.154000	0.11118	-0.468000	0.05107	GAC		0.657	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			13	45	0	0	0	1	0	13	45				
ZFP91	80829	broad.mit.edu	37	11	58384240	58384240	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:58384240A>G	ENST00000316059.6	+	10	1325	c.1154A>G	c.(1153-1155)cAc>cGc	p.H385R	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.H385R	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	385					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AAGAGTTCCCACAATCTGGCA	0.413																																						ENST00000316059.6																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1153-1155)cAc>cGc		ZFP91 zinc finger protein							81.0	78.0	79.0					11																	58384240		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58384240A>G	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1154A>G	11.37:g.58384240A>G	ENSP00000339030:p.His385Arg					ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.H385R	p.H385R	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN			10	1325	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	385					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.1154A>G	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.346683	0.82022	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.14640	2.49	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	N	0.10972	0.075	0.58432	D	0.999999	D;D	0.67145	0.996;0.967	D;P	0.77557	0.99;0.835	T	0.18587	-1.0332	10	0.54805	T	0.06	-11.9565	15.127	0.72489	1.0:0.0:0.0:0.0	.	385;385	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	R	385	ENSP00000339030:H385R	ENSP00000374569:H385R	H	+	2	0	ZFP91	58140816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.159000	0.77483	2.223000	0.72356	0.455000	0.32223	CAC		0.413	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		15	69	0	0	0	1	0	15	69				
FAM189A2	9413	broad.mit.edu	37	9	71986447	71986447	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:71986447T>C	ENST00000257515.8	+	3	465	c.45T>C	c.(43-45)tgT>tgC	p.C15C	FAM189A2_ENST00000455972.1_Silent_p.C15C|FAM189A2_ENST00000303068.7_Intron	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	15						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTGGTTTGTGTCCTCTTAA	0.448																																						ENST00000257515.8																			0				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(43-45)tgT>tgC		family with sequence similarity 189, member A2							241.0	214.0	223.0					9																	71986447		2203	4300	6503	SO:0001819	synonymous_variant	9413					integral to membrane		g.chr9:71986447T>C	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.45T>C	9.37:g.71986447T>C						FAM189A2_ENST00000303068.7_Intron|FAM189A2_ENST00000455972.1_Silent_p.C15C	p.C15C	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN			3	465	+			15					Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Silent	SNP	ENST00000257515.8	37	c.45T>C	CCDS6629.1																																																																																				0.448	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052576.2	NM_004816		9	156	0	0	0	1	0	9	156				
KIAA1549L	25758	broad.mit.edu	37	11	33565764	33565764	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:33565764A>G	ENST00000321505.4	+	1	1944	c.1764A>G	c.(1762-1764)acA>acG	p.T588T	KIAA1549L_ENST00000389726.3_Silent_p.T588T|KIAA1549L_ENST00000265654.5_Silent_p.T588T			Q6ZVL6	K154L_HUMAN	KIAA1549-like	588						integral component of membrane (GO:0016021)											ATGCTTCCACACCATTCCAGA	0.468																																						ENST00000321505.4																			0											c.(1762-1764)acA>acG		KIAA1549-like							116.0	115.0	115.0					11																	33565764		1918	4119	6037	SO:0001819	synonymous_variant	25758							g.chr11:33565764A>G	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1764A>G	11.37:g.33565764A>G						KIAA1549L_ENST00000265654.5_Silent_p.T588T|KIAA1549L_ENST00000389726.3_Silent_p.T588T	p.T588T							1	1944	+								B0QYU0	Silent	SNP	ENST00000321505.4	37	c.1764A>G	CCDS44565.2																																																																																				0.468	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		36	123	0	0	0	1	0	36	123				
FAT1	2195	broad.mit.edu	37	4	187629423	187629423	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:187629423C>T	ENST00000441802.2	-	2	1768	c.1559G>A	c.(1558-1560)aGt>aAt	p.S520N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	520	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCTGACGTACTCACGGCACC	0.517										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(1558-1560)aGt>aAt		FAT atypical cadherin 1							123.0	117.0	119.0					4																	187629423		2015	4164	6179	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629423C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1559G>A	4.37:g.187629423C>T	ENSP00000406229:p.Ser520Asn	HNSCC(5;0.00058)					p.S520N	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	1768	-			520			Cadherin 4.			Missense_Mutation	SNP	ENST00000441802.2	37	c.1559G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.227074	0.58668	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.55234	0.53	5.58	5.58	0.84498	Cadherin (4);Cadherin-like (1);	0.129964	0.64402	D	0.000001	T	0.68220	0.2977	M	0.84156	2.68	0.47819	D	0.999525	P	0.50066	0.931	P	0.54965	0.765	T	0.65429	-0.6170	10	0.27082	T	0.32	.	15.2706	0.73699	0.0:0.8605:0.1395:0.0	.	520	Q14517	FAT1_HUMAN	N	520	ENSP00000406229:S520N	ENSP00000260147:S520N	S	-	2	0	FAT1	187866417	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	2.522000	0.45572	2.906000	0.99361	0.655000	0.94253	AGT		0.517	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		5	113	0	0	0	1	0	5	113				
ARID4A	5926	broad.mit.edu	37	14	58831368	58831368	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:58831368A>C	ENST00000355431.3	+	20	2934	c.2561A>C	c.(2560-2562)aAg>aCg	p.K854T	ARID4A_ENST00000348476.3_Missense_Mutation_p.K854T|ARID4A_ENST00000395168.3_Missense_Mutation_p.K854T|ARID4A_ENST00000431317.2_Missense_Mutation_p.K854T	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	854					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAGAAAAGAAGTTGAAACGG	0.333																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2560-2562)aAg>aCg		AT rich interactive domain 4A (RBP1-like)							45.0	44.0	44.0					14																	58831368		2203	4300	6503	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831368A>C	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2561A>C	14.37:g.58831368A>C	ENSP00000347602:p.Lys854Thr					ARID4A_ENST00000431317.2_Missense_Mutation_p.K854T|ARID4A_ENST00000348476.3_Missense_Mutation_p.K854T|ARID4A_ENST00000395168.3_Missense_Mutation_p.K854T	p.K854T	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			20	2934	+			854					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.2561A>C	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	A	18.56	3.650958	0.67472	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.19532	2.3;2.29;2.26;2.29;2.14	6.02	6.02	0.97574	.	0.058418	0.64402	D	0.000003	T	0.42899	0.1223	L	0.54323	1.7	0.33887	D	0.636868	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.991;0.996	T	0.52109	-0.8619	10	0.39692	T	0.17	-10.3985	16.542	0.84395	1.0:0.0:0.0:0.0	.	854;854;854	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	T	854;854;854;854;532	ENSP00000347602:K854T;ENSP00000344556:K854T;ENSP00000378597:K854T;ENSP00000397368:K854T;ENSP00000416053:K532T	ENSP00000344556:K854T	K	+	2	0	ARID4A	57901121	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.218000	0.51192	2.304000	0.77564	0.528000	0.53228	AAG		0.333	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		14	38	0	0	0	1	0	14	38				
FRMD4A	55691	broad.mit.edu	37	10	13708105	13708105	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:13708105A>G	ENST00000357447.2	-	18	1963	c.1595T>C	c.(1594-1596)aTc>aCc	p.I532T	FRMD4A_ENST00000358621.4_Missense_Mutation_p.I517T|FRMD4A_ENST00000378503.1_Missense_Mutation_p.I532T	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	532					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						ACCGTCTATGATCAGCGAAGC	0.592																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1594-1596)aTc>aCc		FERM domain containing 4A							103.0	103.0	103.0					10																	13708105		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13708105A>G	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1595T>C	10.37:g.13708105A>G	ENSP00000350032:p.Ile532Thr					FRMD4A_ENST00000378503.1_Missense_Mutation_p.I532T|FRMD4A_ENST00000358621.4_Missense_Mutation_p.I517T	p.I532T	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			18	1963	-			532					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.1595T>C	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.641340	0.47153	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.83837	-1.77;-1.77;-1.77	5.05	5.05	0.67936	.	0.099242	0.64402	D	0.000002	T	0.78259	0.4255	L	0.42245	1.32	0.58432	D	0.999999	B	0.16603	0.018	B	0.15052	0.012	T	0.75004	-0.3470	10	0.49607	T	0.09	-17.7769	14.9597	0.71147	1.0:0.0:0.0:0.0	.	532	Q9P2Q2	FRM4A_HUMAN	T	517;532;532	ENSP00000351438:I517T;ENSP00000350032:I532T;ENSP00000367764:I532T	ENSP00000350032:I532T	I	-	2	0	FRMD4A	13748111	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	9.138000	0.94501	2.134000	0.65973	0.459000	0.35465	ATC		0.592	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		32	123	0	0	0	1	0	32	123				
SYNE2	23224	broad.mit.edu	37	14	64596825	64596825	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:64596825T>C	ENST00000344113.4	+	76	14411	c.14199T>C	c.(14197-14199)ccT>ccC	p.P4733P	SYNE2_ENST00000357395.3_Silent_p.P1118P|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Silent_p.P1367P|SYNE2_ENST00000394768.2_Silent_p.P1118P|SYNE2_ENST00000358025.3_Silent_p.P4733P|SYNE2_ENST00000554584.1_Silent_p.P4650P	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4733				P -> S (in Ref. 2; AAL33802 and 3). {ECO:0000305}.	centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCAGCAGCCCTTTCGTCACTG	0.473																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(3352-3354)ccT>ccC		spectrin repeat containing, nuclear envelope 2							101.0	88.0	92.0					14																	64596825		2203	4300	6503	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64596825T>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14199T>C	14.37:g.64596825T>C						SYNE2_ENST00000344113.4_Silent_p.P4733P|SYNE2_ENST00000394768.2_Silent_p.P1118P|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Silent_p.P4650P|SYNE2_ENST00000358025.3_Silent_p.P4733P|SYNE2_ENST00000555002.1_Silent_p.P1367P	p.P1118P			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	77	14498	+			4733					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.3354T>C	CCDS41963.1																																																																																				0.473	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		18	64	0	0	0	1	0	18	64				
PHKG1	5260	broad.mit.edu	37	7	56148943	56148943	+	Missense_Mutation	SNP	C	C	T	rs371433601		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:56148943C>T	ENST00000297373.2	-	10	1162	c.968G>A	c.(967-969)cGc>cAc	p.R323H	PHKG1_ENST00000537360.1_Missense_Mutation_p.R269H|PHKG1_ENST00000452681.2_Missense_Mutation_p.R355H|PHKG1_ENST00000489604.1_5'Flank	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	323	Calmodulin-binding (domain-N).		R -> C (in dbSNP:rs149458708). {ECO:0000269|PubMed:17344846}.		carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTCACCCGGCGGTACTGGTA	0.667																																					Melanoma(184;580 2064 5329 24177 35303)	ENST00000452681.2																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.(1063-1065)cGc>cAc		phosphorylase kinase, gamma 1 (muscle)		C	HIS/ARG	0,4406		0,0,2203	36.0	32.0	33.0		968	4.1	1.0	7		33	1,8599	1.2+/-3.3	0,1,4299	no	missense	PHKG1	NM_006213.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	323/388	56148943	1,13005	2203	4300	6503	SO:0001583	missense	5260				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr7:56148943C>T	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.968G>A	7.37:g.56148943C>T	ENSP00000297373:p.Arg323His					PHKG1_ENST00000537360.1_Missense_Mutation_p.R269H|PHKG1_ENST00000297373.2_Missense_Mutation_p.R323H	p.R355H	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		11	1213	-	Breast(14;0.214)		323			Calmodulin-binding (domain-C).		B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	37	c.1064G>A	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243579	0.39697	0.0	1.16E-4	ENSG00000164776	ENST00000452681;ENST00000537360;ENST00000297373	T;T;T	0.31247	1.5;1.5;1.5	4.93	4.05	0.47172	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000004	T	0.22936	0.0554	L	0.41824	1.3	0.80722	D	1	B;B;B;B	0.13145	0.003;0.003;0.007;0.002	B;B;B;B	0.08055	0.001;0.002;0.003;0.001	T	0.04693	-1.0933	10	0.10902	T	0.67	-25.142	12.5845	0.56410	0.0:0.9192:0.0:0.0808	.	269;314;355;323	B7Z5U3;B7Z6U2;F5H2S1;Q16816	.;.;.;PHKG1_HUMAN	H	355;269;323	ENSP00000445440:R355H;ENSP00000441528:R269H;ENSP00000297373:R323H	ENSP00000297373:R323H	R	-	2	0	PHKG1	56116437	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	4.933000	0.63484	1.221000	0.43506	0.563000	0.77884	CGC		0.667	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		17	31	0	0	0	1	0	17	31				
C1orf112	55732	broad.mit.edu	37	1	169796951	169796951	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:169796951C>T	ENST00000286031.6	+	12	1797	c.1097C>T	c.(1096-1098)aCa>aTa	p.T366I	C1orf112_ENST00000359326.4_Missense_Mutation_p.T366I|C1orf112_ENST00000413811.2_Intron|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	366										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTGTGGTGCACAGACAGCCAG	0.463																																						ENST00000286031.6																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(1096-1098)aCa>aTa		chromosome 1 open reading frame 112							313.0	312.0	312.0					1																	169796951		2203	4300	6503	SO:0001583	missense	55732							g.chr1:169796951C>T	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1097C>T	1.37:g.169796951C>T	ENSP00000286031:p.Thr366Ile					C1orf112_ENST00000359326.4_Missense_Mutation_p.T366I|C1orf112_ENST00000413811.2_Intron|C1orf112_ENST00000498289.1_3'UTR	p.T366I	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN			12	1797	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		366					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	c.1097C>T	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546989	0.86022	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	T;T	0.46063	0.88;0.88	5.53	2.22	0.28083	.	0.601209	0.19462	N	0.113669	T	0.35537	0.0935	M	0.67953	2.075	0.09310	N	1	P;P	0.47962	0.903;0.903	P;P	0.52159	0.691;0.671	T	0.11542	-1.0583	10	0.66056	D	0.02	-0.8845	10.2094	0.43132	0.2728:0.6064:0.1208:0.0	.	308;366	B4DGF2;Q9NSG2	.;CA112_HUMAN	I	366	ENSP00000352276:T366I;ENSP00000286031:T366I	ENSP00000286031:T366I	T	+	2	0	C1orf112	168063575	0.019000	0.18553	0.595000	0.28798	0.968000	0.65278	1.171000	0.31896	0.659000	0.30945	0.491000	0.48974	ACA		0.463	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		107	383	0	0	0	1	0	107	383				
CDCA4	55038	broad.mit.edu	37	14	105478187	105478187	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:105478187A>T	ENST00000336219.3	-	2	235	c.80T>A	c.(79-81)gTg>gAg	p.V27E	CDCA4_ENST00000392590.3_Missense_Mutation_p.V27E	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	27						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		GTATGAGGACACTGTCTTCAA	0.572																																						ENST00000336219.3																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(79-81)gTg>gAg		cell division cycle associated 4							82.0	69.0	73.0					14																	105478187		2203	4300	6503	SO:0001583	missense	55038					nucleus		g.chr14:105478187A>T	BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"""hematopoietic progenitor protein"""	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.80T>A	14.37:g.105478187A>T	ENSP00000337226:p.Val27Glu					CDCA4_ENST00000392590.3_Missense_Mutation_p.V27E	p.V27E	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)	2	235	-		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	27					Q8TB18|Q9NWK7	Missense_Mutation	SNP	ENST00000336219.3	37	c.80T>A	CCDS9996.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.348471	0.24426	.	.	ENSG00000170779	ENST00000336219;ENST00000392590	.	.	.	4.56	2.21	0.28008	.	0.834993	0.10344	U	0.685950	T	0.23806	0.0576	L	0.38175	1.15	0.09310	N	1	P	0.45902	0.868	B	0.42319	0.383	T	0.05716	-1.0868	9	0.02654	T	1	-10.5808	6.8314	0.23913	0.8075:0.0:0.1925:0.0	.	27	Q9BXL8	CDCA4_HUMAN	E	27	.	ENSP00000337226:V27E	V	-	2	0	CDCA4	104549232	0.050000	0.20438	0.000000	0.03702	0.003000	0.03518	2.583000	0.46094	0.273000	0.22049	0.533000	0.62120	GTG		0.572	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410311.1	NM_145701		37	123	0	0	0	1	0	37	123				
PRKCB	5579	broad.mit.edu	37	16	23847555	23847555	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:23847555T>C	ENST00000321728.7	+	1	234	c.59T>C	c.(58-60)tTc>tCc	p.F20S	PRKCB_ENST00000498058.1_Missense_Mutation_p.F20S|PRKCB_ENST00000303531.7_Missense_Mutation_p.F20S	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	20					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	ACCGTGCGCTTCGCCCGCAAA	0.701																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(58-60)tTc>tCc		protein kinase C, beta	Vitamin E(DB00163)						55.0	48.0	50.0					16																	23847555		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:23847555T>C	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.59T>C	16.37:g.23847555T>C	ENSP00000318315:p.Phe20Ser					PRKCB_ENST00000498058.1_Missense_Mutation_p.F20S|PRKCB_ENST00000321728.7_Missense_Mutation_p.F20S	p.F20S	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			1	211	+			20					C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.59T>C	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	t	13.57	2.276973	0.40294	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.70869	-0.51;-0.52	3.71	2.6	0.31112	.	0.000000	0.64402	U	0.000001	T	0.80248	0.4588	M	0.81942	2.565	0.54753	D	0.999984	D;D	0.67145	0.993;0.996	D;D	0.68192	0.956;0.955	T	0.76594	-0.2902	10	0.40728	T	0.16	.	7.2494	0.26140	0.0:0.1134:0.0:0.8866	.	20;20	P05771-2;P05771	.;KPCB_HUMAN	S	20	ENSP00000318315:F20S;ENSP00000305355:F20S	ENSP00000305355:F20S	F	+	2	0	PRKCB	23755056	1.000000	0.71417	0.985000	0.45067	0.009000	0.06853	5.017000	0.64047	0.425000	0.26087	-0.383000	0.06682	TTC		0.701	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		16	82	0	0	0	1	0	16	82				
COL23A1	91522	broad.mit.edu	37	5	177694329	177694329	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:177694329T>C	ENST00000390654.3	-	8	858	c.501A>G	c.(499-501)gcA>gcG	p.A167A	COL23A1_ENST00000407622.1_Silent_p.A131A	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	167	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		AGTCTCCTGGTGCACCCTGGG	0.527																																						ENST00000390654.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(499-501)gcA>gcG		collagen, type XXIII, alpha 1							94.0	109.0	104.0					5																	177694329		1953	4144	6097	SO:0001819	synonymous_variant	91522					collagen|integral to membrane|plasma membrane	protein binding	g.chr5:177694329T>C	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.501A>G	5.37:g.177694329T>C						COL23A1_ENST00000407622.1_Silent_p.A131A	p.A167A	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	8	858	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	167			Collagen-like 1.|Gly-rich.		Q8IVR4|Q9NT93	Silent	SNP	ENST00000390654.3	37	c.501A>G	CCDS4436.1																																																																																				0.527	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465		8	27	0	0	0	1	0	8	27				
CHST13	166012	broad.mit.edu	37	3	126260867	126260867	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:126260867G>T	ENST00000319340.2	+	3	522	c.472G>T	c.(472-474)Gcc>Tcc	p.A158S		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	158					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CTTCAGCCCCGCCGAGATCAA	0.736																																						ENST00000319340.2																			0				central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(472-474)Gcc>Tcc		carbohydrate (chondroitin 4) sulfotransferase 13							7.0	9.0	8.0					3																	126260867		2087	4161	6248	SO:0001583	missense	166012				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr3:126260867G>T	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.472G>T	3.37:g.126260867G>T	ENSP00000317404:p.Ala158Ser						p.A158S	NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	3	522	+			158					Q3SYA3|Q3SYA5	Missense_Mutation	SNP	ENST00000319340.2	37	c.472G>T	CCDS3039.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.176685	0.38413	.	.	ENSG00000180767	ENST00000319340;ENST00000383575	T	0.73897	-0.79	4.73	0.73	0.18271	.	0.186973	0.44483	D	0.000452	T	0.61937	0.2387	L	0.42245	1.32	0.29840	N	0.829293	P	0.39181	0.663	B	0.41946	0.371	T	0.55425	-0.8143	10	0.23891	T	0.37	-31.19	4.7971	0.13277	0.1706:0.0:0.5373:0.292	.	158	Q8NET6	CHSTD_HUMAN	S	158	ENSP00000317404:A158S	ENSP00000317404:A158S	A	+	1	0	CHST13	127743557	0.002000	0.14202	0.041000	0.18516	0.421000	0.31385	0.158000	0.16422	-0.176000	0.10707	-0.339000	0.08088	GCC		0.736	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		8	14	1	0	0.000157383	1	0.00015972	8	14				
GPR174	84636	broad.mit.edu	37	X	78426811	78426811	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:78426811T>C	ENST00000276077.1	+	1	343	c.307T>C	c.(307-309)Tat>Cat	p.Y103H		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TGTCAACATGTATGCAAGCAT	0.443										HNSCC(63;0.18)																												ENST00000276077.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						c.(307-309)Tat>Cat		G protein-coupled receptor 174							177.0	150.0	159.0					X																	78426811		2203	4300	6503	SO:0001583	missense	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78426811T>C	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.307T>C	X.37:g.78426811T>C	ENSP00000276077:p.Tyr103His	HNSCC(63;0.18)					p.Y103H	NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN			1	343	+			103					Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	37	c.307T>C	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	t	19.00	3.741744	0.69304	.	.	ENSG00000147138	ENST00000276077	T	0.73152	-0.72	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83691	0.5309	M	0.81179	2.53	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.85936	0.1455	10	0.87932	D	0	.	12.5592	0.56271	0.0:0.0:0.0:1.0	.	103	Q9BXC1	GP174_HUMAN	H	103	ENSP00000276077:Y103H	ENSP00000276077:Y103H	Y	+	1	0	GPR174	78313467	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.802000	0.85969	1.643000	0.50594	0.433000	0.28618	TAT		0.443	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		32	35	0	0	0	1	0	32	35				
RYR1	6261	broad.mit.edu	37	19	38976427	38976427	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:38976427A>G	ENST00000359596.3	+	34	5132	c.5132A>G	c.(5131-5133)tAt>tGt	p.Y1711C	RYR1_ENST00000355481.4_Missense_Mutation_p.Y1711C|RYR1_ENST00000360985.3_Missense_Mutation_p.Y1711C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1711	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCAGGCTACTATGACCTCCTC	0.652																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5131-5133)tAt>tGt		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						65.0	65.0	65.0					19																	38976427		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976427A>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5132A>G	19.37:g.38976427A>G	ENSP00000352608:p.Tyr1711Cys					RYR1_ENST00000360985.3_Missense_Mutation_p.Y1711C|RYR1_ENST00000359596.3_Missense_Mutation_p.Y1711C	p.Y1711C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5263	+	all_cancers(60;7.91e-06)		1711			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5132A>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.532129	0.45073	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.79554	-1.28;-1.28;-1.28	3.98	3.98	0.46160	.	0.000000	0.64402	U	0.000008	D	0.89332	0.6685	M	0.83012	2.62	0.50313	D	0.999868	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.90794	0.4689	10	0.87932	D	0	.	12.7127	0.57098	1.0:0.0:0.0:0.0	.	1711;1711	P21817-2;P21817	.;RYR1_HUMAN	C	1711	ENSP00000352608:Y1711C;ENSP00000347667:Y1711C;ENSP00000354254:Y1711C	ENSP00000347667:Y1711C	Y	+	2	0	RYR1	43668267	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.102000	0.77005	1.666000	0.50821	0.477000	0.44152	TAT		0.652	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			5	137	0	0	0	1	0	5	137				
MCCC2	64087	broad.mit.edu	37	5	70927998	70927998	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:70927998T>C	ENST00000340941.6	+	8	918	c.789T>C	c.(787-789)gcT>gcC	p.A263A	MCCC2_ENST00000509358.2_Silent_p.A263A|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Silent_p.A225A	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	263	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TTGGAGGTGCTGATCTTCATT	0.383																																						ENST00000340941.6																			0				endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30						c.(787-789)gcT>gcC		methylcrotonoyl-CoA carboxylase 2 (beta)	Biotin(DB00121)						305.0	290.0	295.0					5																	70927998		2203	4300	6503	SO:0001819	synonymous_variant	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70927998T>C	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.789T>C	5.37:g.70927998T>C						MCCC2_ENST00000509358.2_Silent_p.A263A|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Silent_p.A225A	p.A263A	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	8	918	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	263			Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Silent	SNP	ENST00000340941.6	37	c.789T>C	CCDS34184.1																																																																																				0.383	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			27	85	0	0	0	1	0	27	85				
VPS33A	65082	broad.mit.edu	37	12	122735613	122735613	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:122735613A>G	ENST00000267199.4	-	5	629	c.517T>C	c.(517-519)Tac>Cac	p.Y173H	VPS33A_ENST00000542310.1_5'UTR|RP11-512M8.5_ENST00000535844.1_Intron	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	173					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GCTGCGTGGTACAGGCTCGTC	0.597																																						ENST00000267199.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28						c.(517-519)Tac>Cac		vacuolar protein sorting 33 homolog A (S. cerevisiae)							67.0	61.0	63.0					12																	122735613		2203	4300	6503	SO:0001583	missense	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122735613A>G	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.517T>C	12.37:g.122735613A>G	ENSP00000267199:p.Tyr173His					VPS33A_ENST00000542310.1_5'UTR|RP11-512M8.5_ENST00000535844.1_Intron	p.Y173H	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	5	629	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		173					Q547V4|Q9H5Q0	Missense_Mutation	SNP	ENST00000267199.4	37	c.517T>C	CCDS9231.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.940447	0.52972	.	.	ENSG00000139719	ENST00000267199	T	0.76316	-1.01	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	L	0.39085	1.19	0.80722	D	1	B	0.28636	0.218	B	0.34138	0.176	T	0.66432	-0.5925	10	0.15499	T	0.54	-15.0668	16.162	0.81727	1.0:0.0:0.0:0.0	.	173	Q96AX1	VP33A_HUMAN	H	173	ENSP00000267199:Y173H	ENSP00000267199:Y173H	Y	-	1	0	VPS33A	121301566	1.000000	0.71417	0.998000	0.56505	0.353000	0.29299	9.189000	0.94928	2.224000	0.72417	0.533000	0.62120	TAC		0.597	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			36	60	0	0	0	1	0	36	60				
BPTF	2186	broad.mit.edu	37	17	65936555	65936555	+	Splice_Site	SNP	G	G	T	rs148259687		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:65936555G>T	ENST00000321892.4	+	21	6699	c.6638G>T	c.(6637-6639)gGt>gTt	p.G2213V	BPTF_ENST00000335221.5_Splice_Site_p.G2213V|BPTF_ENST00000577770.1_3'UTR|BPTF_ENST00000306378.6_Splice_Site_p.G2087V|BPTF_ENST00000424123.3_Splice_Site_p.G2074V			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2213					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTTTGGGTAGGTGCTCCTCAG	0.448																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.e21-1		bromodomain PHD finger transcription factor							65.0	56.0	59.0					17																	65936555		2203	4300	6503	SO:0001630	splice_region_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65936555G>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.6638-1G>T	17.37:g.65936555G>T						BPTF_ENST00000577770.1_3'UTR|BPTF_ENST00000424123.3_Splice_Site_p.G2074_splice|BPTF_ENST00000335221.5_Splice_Site_p.G2213_splice|BPTF_ENST00000306378.6_Splice_Site_p.G2087_splice	p.G2213_splice			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		21	6699	+	all_cancers(12;6e-11)		2213					Q6NX67|Q7Z7D6|Q9UIG2	Splice_Site	SNP	ENST00000321892.4	37	c.6637_splice		.	.	.	.	.	.	.	.	.	.	G	16.79	3.219335	0.58560	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.71817	-0.28;-0.6;-0.42	5.95	5.95	0.96441	.	.	.	.	.	T	0.78761	0.4334	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75334	-0.3354	8	.	.	.	.	18.5737	0.91147	0.0:0.0:1.0:0.0	.	2087;2213	Q12830-2;Q12830-4	.;.	V	2087;2213;2213	ENSP00000307208:G2087V;ENSP00000334351:G2213V;ENSP00000315454:G2213V	.	G	+	2	0	BPTF	63367017	1.000000	0.71417	0.774000	0.31636	0.154000	0.21943	4.671000	0.61590	2.824000	0.97209	0.655000	0.94253	GGT		0.448	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	Missense_Mutation	9	21	1	0	1.76689e-08	1	1.82224e-08	9	21				
HSH2D	84941	broad.mit.edu	37	19	16259620	16259620	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:16259620C>T	ENST00000253680.6	+	4	591	c.60C>T	c.(58-60)caC>caT	p.H20H	HSH2D_ENST00000588246.1_Silent_p.H20H|HSH2D_ENST00000593154.2_Silent_p.H20H|HSH2D_ENST00000397372.4_Intron			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	20					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						GGTTTGTGCACACCCAGATGG	0.637																																						ENST00000593154.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						c.(58-60)caC>caT		hematopoietic SH2 domain containing							50.0	58.0	55.0					19																	16259620		1929	4114	6043	SO:0001819	synonymous_variant	84941					cytoplasm|nucleus		g.chr19:16259620C>T	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"""SH2 domain containing"""	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.60C>T	19.37:g.16259620C>T						HSH2D_ENST00000588246.1_Silent_p.H20H|HSH2D_ENST00000397372.4_Intron|HSH2D_ENST00000253680.6_Silent_p.H20H	p.H20H	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN			4	591	+			20					B5ME72|Q6ZNG7	Silent	SNP	ENST00000253680.6	37	c.60C>T																																																																																					0.637	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855		37	79	0	0	0	1	0	37	79				
PLCG2	5336	broad.mit.edu	37	16	81929426	81929426	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:81929426G>A	ENST00000359376.3	+	13	1301	c.1087G>A	c.(1087-1089)Ggg>Agg	p.G363R		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	363	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CTGCTGGGACGGGCCCGATGG	0.597																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1087-1089)Ggg>Agg		phospholipase C, gamma 2 (phosphatidylinositol-specific)							87.0	97.0	94.0					16																	81929426		2060	4233	6293	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81929426G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1087G>A	16.37:g.81929426G>A	ENSP00000352336:p.Gly363Arg						p.G363R	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			13	1301	+			363			PI-PLC X-box.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.1087G>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449071	0.43531	.	.	ENSG00000197943	ENST00000359376	T	0.59638	0.25	4.81	4.81	0.61882	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.153741	0.64402	D	0.000018	D	0.83562	0.5281	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.89145	0.3519	10	0.87932	D	0	.	18.2393	0.89961	0.0:0.0:1.0:0.0	.	230;363	B4E3H3;P16885	.;PLCG2_HUMAN	R	363	ENSP00000352336:G363R	ENSP00000352336:G363R	G	+	1	0	PLCG2	80486927	1.000000	0.71417	0.998000	0.56505	0.217000	0.24651	9.827000	0.99397	2.349000	0.79799	0.557000	0.71058	GGG		0.597	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			31	94	0	0	0	1	0	31	94				
HIF1AN	55662	broad.mit.edu	37	10	102306312	102306312	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:102306312A>G	ENST00000299163.6	+	6	968	c.868A>G	c.(868-870)Acc>Gcc	p.T290A		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	290	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cellular response to hypoxia (GO:0071456)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|oxidation-reduction process (GO:0055114)|peptidyl-asparagine hydroxylation (GO:0042265)|peptidyl-aspartic acid hydroxylation (GO:0042264)|peptidyl-histidine hydroxylation (GO:0036138)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of vasculogenesis (GO:2001214)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ankyrin repeat binding (GO:0071532)|carboxylic acid binding (GO:0031406)|cofactor binding (GO:0048037)|iron ion binding (GO:0005506)|NF-kappaB binding (GO:0051059)|Notch binding (GO:0005112)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-asparagine 3-dioxygenase activity (GO:0036140)|peptidyl-histidine dioxygenase activity (GO:0036139)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		TGGGGGGATTACCATCACTGT	0.428																																						ENST00000299163.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10						c.(868-870)Acc>Gcc		hypoxia inducible factor 1, alpha subunit inhibitor							165.0	173.0	170.0					10																	102306312		2203	4300	6503	SO:0001583	missense	55662				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding	g.chr10:102306312A>G	AK000622	CCDS7498.1	10q24	2008-12-18	2008-12-02		ENSG00000166135	ENSG00000166135	1.14.11.16		17113	protein-coding gene	gene with protein product	"""Peptide-aspartate beta-dioxygenase"""	606615				11641274	Standard	NM_017902		Approved	FLJ20615, DKFZp762F1811, FLJ22027, FIH1	uc001krj.4	Q9NWT6	OTTHUMG00000018911	ENST00000299163.6:c.868A>G	10.37:g.102306312A>G	ENSP00000299163:p.Thr290Ala						p.T290A	NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)	6	968	+		Colorectal(252;0.234)	290			Interaction with HIF1A.|Interaction with VHL.|JmjC.		D3DR69|Q5W147|Q969Q7|Q9NPV5	Missense_Mutation	SNP	ENST00000299163.6	37	c.868A>G	CCDS7498.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.356096	0.82243	.	.	ENSG00000166135	ENST00000533589;ENST00000299163;ENST00000442724	T;T	0.69306	-0.39;-0.39	5.28	5.28	0.74379	Cupin, JmjC-type (1);Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	T	0.70107	0.3186	L	0.39245	1.2	0.80722	D	1	D	0.59767	0.986	P	0.55871	0.786	T	0.73418	-0.3989	10	0.66056	D	0.02	-7.8268	13.8213	0.63322	1.0:0.0:0.0:0.0	.	290	Q9NWT6	HIF1N_HUMAN	A	183;290;323	ENSP00000433360:T183A;ENSP00000299163:T290A	ENSP00000299163:T290A	T	+	1	0	HIF1AN	102296302	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.313000	0.96297	2.003000	0.58678	0.459000	0.35465	ACC		0.428	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049865.5	NM_017902		49	160	0	0	0	1	0	49	160				
ARHGAP29	9411	broad.mit.edu	37	1	94674816	94674816	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:94674816C>A	ENST00000260526.6	-	4	613	c.431G>T	c.(430-432)gGa>gTa	p.G144V	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.G144V	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	144					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.G144E(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTACATATTTCCAAAGGTAAA	0.353																																						ENST00000260526.6																			1	Substitution - Missense(1)	p.G144E(1)	endometrium(1)	NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(430-432)gGa>gTa		Rho GTPase activating protein 29							71.0	68.0	69.0					1																	94674816		2200	4296	6496	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94674816C>A		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.431G>T	1.37:g.94674816C>A	ENSP00000260526:p.Gly144Val					ARHGAP29_ENST00000370217.3_Missense_Mutation_p.G144V	p.G144V	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	4	613	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	144					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.431G>T	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402070	0.83120	.	.	ENSG00000137962	ENST00000260526;ENST00000370217	T;T	0.28666	1.6;1.66	5.16	5.16	0.70880	.	0.000000	0.38778	N	0.001572	T	0.46367	0.1389	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.44128	-0.9348	10	0.66056	D	0.02	-18.1434	17.9804	0.89139	0.0:1.0:0.0:0.0	.	144;144	Q52LW3-2;Q52LW3	.;RHG29_HUMAN	V	144	ENSP00000260526:G144V;ENSP00000359237:G144V	ENSP00000260526:G144V	G	-	2	0	ARHGAP29	94447404	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	6.963000	0.76055	2.558000	0.86282	0.467000	0.42956	GGA		0.353	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		3	14	1	0	0.115264	1	0.1157	3	14				
HNRNPC	3183	broad.mit.edu	37	14	21679385	21679385	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:21679385A>G	ENST00000320084.7	-	8	1157	c.918T>C	c.(916-918)tcT>tcC	p.S306S	HNRNPC_ENST00000557201.1_Silent_p.S306S|HNRNPC_ENST00000556513.1_3'UTR|HNRNPC_ENST00000556628.1_Silent_p.S226S|HNRNPC_ENST00000554969.1_Silent_p.S293S|HNRNPC_ENST00000555309.1_Silent_p.S305S|HNRNPC_ENST00000553300.1_Silent_p.S293S|HNRNPC_ENST00000553753.1_3'UTR|HNRNPC_ENST00000449098.1_Silent_p.S293S|HNRNPC_ENST00000555914.1_Silent_p.S292S|HNRNPC_ENST00000555883.1_Silent_p.S250S|HNRNPC_ENST00000430246.2_Silent_p.S293S|HNRNPC_ENST00000554455.1_Silent_p.S306S|HNRNPC_ENST00000556142.1_3'UTR|HNRNPC_ENST00000420743.2_Silent_p.S306S|HNRNPC_ENST00000556897.1_Silent_p.S293S|HNRNPC_ENST00000336053.6_3'UTR	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	306				EDDS -> G (in Ref. 1 and 2). {ECO:0000305}.	3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		TATGTGCTTAAGAGTCATCCT	0.433																																					NSCLC(108;607 2244 12726 38757)	ENST00000430246.2																			0				breast(1)|liver(1)|lung(6)|skin(1)	9						c.(877-879)tcT>tcC		heterogeneous nuclear ribonucleoprotein C (C1/C2)							108.0	112.0	111.0					14																	21679385		2002	4149	6151	SO:0001819	synonymous_variant	3183					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding	g.chr14:21679385A>G		CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.918T>C	14.37:g.21679385A>G						HNRNPC_ENST00000555914.1_Silent_p.S292S|HNRNPC_ENST00000320084.7_Silent_p.S306S|HNRNPC_ENST00000555883.1_Silent_p.S250S|HNRNPC_ENST00000555309.1_Silent_p.S305S|HNRNPC_ENST00000554969.1_Silent_p.S293S|HNRNPC_ENST00000336053.6_3'UTR|HNRNPC_ENST00000554455.1_Silent_p.S306S|HNRNPC_ENST00000553753.1_3'UTR|HNRNPC_ENST00000556628.1_Silent_p.S226S|HNRNPC_ENST00000449098.1_Silent_p.S293S|HNRNPC_ENST00000553300.1_Silent_p.S293S|HNRNPC_ENST00000420743.2_Silent_p.S306S|HNRNPC_ENST00000557201.1_Silent_p.S306S|HNRNPC_ENST00000556897.1_Silent_p.S293S|HNRNPC_ENST00000556513.1_3'UTR|HNRNPC_ENST00000556142.1_3'UTR	p.S293S			P07910	HNRPC_HUMAN	Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)	8	3830	-	all_cancers(95;0.00176)		306			Asp/Glu-rich (acidic).		D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Silent	SNP	ENST00000320084.7	37	c.879T>C	CCDS41915.1																																																																																				0.433	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1			21	146	0	0	0	1	0	21	146				
AKAP6	9472	broad.mit.edu	37	14	33292165	33292165	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:33292165G>C	ENST00000280979.4	+	13	5316	c.5146G>C	c.(5146-5148)Gca>Cca	p.A1716P	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1716					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGAATCGAATGCATCGTTCAG	0.468																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(5146-5148)Gca>Cca		A kinase (PRKA) anchor protein 6							164.0	141.0	149.0					14																	33292165		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292165G>C	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5146G>C	14.37:g.33292165G>C	ENSP00000280979:p.Ala1716Pro					AKAP6_ENST00000557272.1_Intron	p.A1716P	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5316	+	Breast(36;0.0388)|Prostate(35;0.15)		1716					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5146G>C	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169537	0.38315	.	.	ENSG00000151320	ENST00000280979	T	0.07908	3.15	5.78	3.93	0.45458	.	0.224693	0.44902	D	0.000401	T	0.14787	0.0357	M	0.64997	1.995	0.80722	D	1	D	0.57257	0.979	P	0.51487	0.671	T	0.00812	-1.1556	10	0.87932	D	0	-2.2701	7.1981	0.25864	0.1397:0.0:0.7212:0.1391	.	1716	Q13023	AKAP6_HUMAN	P	1716	ENSP00000280979:A1716P	ENSP00000280979:A1716P	A	+	1	0	AKAP6	32361916	0.997000	0.39634	0.469000	0.27204	0.690000	0.40134	3.012000	0.49575	0.760000	0.33108	-0.145000	0.13849	GCA		0.468	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		6	171	0	0	0	1	0	6	171				
UBR4	23352	broad.mit.edu	37	1	19401333	19401333	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:19401333A>G	ENST00000375254.3	-	106	15572	c.15545T>C	c.(15544-15546)gTc>gCc	p.V5182A	UBR4_ENST00000375224.1_Missense_Mutation_p.V889A|UBR4_ENST00000375225.3_Missense_Mutation_p.V257A|RP5-1126H10.2_ENST00000606379.1_RNA|UBR4_ENST00000543981.1_Missense_Mutation_p.V846A|UBR4_ENST00000375217.2_Missense_Mutation_p.V5175A|UBR4_ENST00000429347.2_Missense_Mutation_p.V705A|UBR4_ENST00000375226.2_Missense_Mutation_p.V5158A|UBR4_ENST00000375267.2_Missense_Mutation_p.V5203A	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5182					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)		TGGTCAGGGGACTGAGTTCAA	0.562																																						ENST00000375267.2																			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.(15607-15609)gTc>gCc		ubiquitin protein ligase E3 component n-recognin 4							91.0	88.0	89.0					1																	19401333		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19401333A>G	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.15545T>C	1.37:g.19401333A>G	ENSP00000364403:p.Val5182Ala					UBR4_ENST00000375254.3_Missense_Mutation_p.V5182A|UBR4_ENST00000543981.1_Missense_Mutation_p.V846A|RP5-1126H10.2_ENST00000606379.1_RNA|UBR4_ENST00000375225.3_Missense_Mutation_p.V257A|UBR4_ENST00000375217.2_Missense_Mutation_p.V5175A|UBR4_ENST00000375224.1_Missense_Mutation_p.V889A|UBR4_ENST00000375226.2_Missense_Mutation_p.V5158A|UBR4_ENST00000429347.2_Missense_Mutation_p.V705A	p.V5203A			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)	107	15611	-		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)	5182					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.15608T>C	CCDS189.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.982710	0.53827	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375225;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T;T	0.51071	1.82;1.82;1.83;1.83;0.72;1.4;1.4;1.4	5.57	5.57	0.84162	.	0.728642	0.13242	N	0.402775	T	0.43743	0.1261	L	0.40543	1.245	0.39326	D	0.965324	B;B;B;B	0.21606	0.01;0.01;0.034;0.058	B;B;B;B	0.19391	0.007;0.01;0.01;0.025	T	0.38972	-0.9636	10	0.87932	D	0	.	14.5479	0.68044	1.0:0.0:0.0:0.0	.	846;705;5182;5158	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	A	5182;5203;5175;5158;257;889;705;846	ENSP00000364403:V5182A;ENSP00000364416:V5203A;ENSP00000364365:V5175A;ENSP00000364374:V5158A;ENSP00000364373:V257A;ENSP00000364372:V889A;ENSP00000394173:V705A;ENSP00000444070:V846A	ENSP00000364365:V5175A	V	-	2	0	UBR4	19273920	1.000000	0.71417	0.970000	0.41538	0.512000	0.34134	8.749000	0.91619	2.116000	0.64780	0.533000	0.62120	GTC		0.562	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		6	28	0	0	0	1	0	6	28				
CC2D2A	57545	broad.mit.edu	37	4	15569390	15569390	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:15569390G>A	ENST00000503292.1	+	27	3559	c.3379G>A	c.(3379-3381)Gaa>Aaa	p.E1127K	CC2D2A_ENST00000424120.1_Missense_Mutation_p.E1127K|CC2D2A_ENST00000389652.5_Missense_Mutation_p.E1078K|CC2D2A_ENST00000413206.1_Missense_Mutation_p.E1127K	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1127	C2.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CTGGAATGAAGAACTAGAACT	0.388																																						ENST00000424120.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(3379-3381)Gaa>Aaa		coiled-coil and C2 domain containing 2A							82.0	79.0	80.0					4																	15569390		1873	4116	5989	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15569390G>A	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3379G>A	4.37:g.15569390G>A	ENSP00000421809:p.Glu1127Lys					CC2D2A_ENST00000413206.1_Missense_Mutation_p.E1127K|CC2D2A_ENST00000503292.1_Missense_Mutation_p.E1127K|CC2D2A_ENST00000389652.5_Missense_Mutation_p.E1078K	p.E1127K			Q9P2K1	C2D2A_HUMAN			26	3633	+			1127			C2.		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.3379G>A	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848378	0.71603	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	6.08	6.08	0.98989	C2 calcium-dependent membrane targeting (1);	0.111999	0.64402	D	0.000015	D	0.94268	0.8159	M	0.62723	1.935	0.80722	D	1	D;P	0.57571	0.98;0.724	P;P	0.48524	0.58;0.474	D	0.93213	0.6602	10	0.40728	T	0.16	.	14.7703	0.69671	0.0684:0.0:0.9316:0.0	.	1127;1078	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	K	1127;1127;1078;1078;1127;1078	ENSP00000403465:E1127K;ENSP00000398391:E1127K;ENSP00000421809:E1127K;ENSP00000374303:E1078K	ENSP00000374303:E1078K	E	+	1	0	CC2D2A	15178488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.353000	0.73032	2.894000	0.99253	0.655000	0.94253	GAA		0.388	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		5	26	0	0	0	1	0	5	26				
SGSM2	9905	broad.mit.edu	37	17	2275762	2275762	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:2275762A>G	ENST00000426855.2	+	14	1808	c.1633A>G	c.(1633-1635)Aag>Gag	p.K545E	RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000268989.3_Missense_Mutation_p.K590E|SGSM2_ENST00000574563.1_Missense_Mutation_p.K545E	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	545					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CGTGTGGAGCAAGTATCAGAA	0.657																																						ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1768-1770)Aag>Gag		small G protein signaling modulator 2							12.0	16.0	15.0					17																	2275762		2190	4280	6470	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2275762A>G	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.1633A>G	17.37:g.2275762A>G	ENSP00000415107:p.Lys545Glu					SGSM2_ENST00000426855.2_Missense_Mutation_p.K545E|SGSM2_ENST00000574563.1_Missense_Mutation_p.K545E	p.K590E	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	15	1945	+			545			Rab-GAP TBC.		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.1768A>G	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	a	6.824	0.521096	0.13005	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.04156	3.69;3.69	5.7	4.61	0.57282	Rab-GAP/TBC domain (1);	0.040549	0.85682	D	0.000000	T	0.13114	0.0318	L	0.58428	1.81	0.58432	D	0.999997	B;D;B;B	0.71674	0.014;0.998;0.055;0.196	B;D;B;B	0.78314	0.017;0.991;0.02;0.071	T	0.14531	-1.0469	10	0.02654	T	1	-14.4312	12.2563	0.54625	0.8578:0.1422:0.0:0.0	.	545;133;545;590	O43147-5;O43147-3;O43147;O43147-2	.;.;SGSM2_HUMAN;.	E	590;545	ENSP00000268989:K590E;ENSP00000415107:K545E	ENSP00000268989:K590E	K	+	1	0	SGSM2	2222512	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	8.928000	0.92853	0.975000	0.38392	-0.475000	0.04921	AAG		0.657	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		13	28	0	0	0	1	0	13	28				
CLDN25	644672	broad.mit.edu	37	11	113650823	113650823	+	Silent	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:113650823T>A	ENST00000453129.2	+	1	355	c.306T>A	c.(304-306)tcT>tcA	p.S102S		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						GCTTTGGGTCTGAATGCTTCC	0.572																																						ENST00000453129.2																			0				large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						c.(304-306)tcT>tcA		claudin 25							150.0	156.0	154.0					11																	113650823		2039	4209	6248	SO:0001819	synonymous_variant	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113650823T>A		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.306T>A	11.37:g.113650823T>A							p.S102S	NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN			1	355	+			102						Silent	SNP	ENST00000453129.2	37	c.306T>A	CCDS44736.1																																																																																				0.572	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389		8	382	0	0	0	1	0	8	382				
CACTIN	58509	broad.mit.edu	37	19	3612066	3612066	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:3612066T>C	ENST00000429344.2	-	10	2184	c.2132A>G	c.(2131-2133)cAc>cGc	p.H711R	CACTIN_ENST00000221899.3_Missense_Mutation_p.H643R|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000248420.5_Missense_Mutation_p.H711R	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	711					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CGGCCCCGCGTGGAAGCGCAG	0.612																																						ENST00000429344.2																			0											c.(2131-2133)cAc>cGc		cactin, spliceosome C complex subunit							119.0	137.0	131.0					19																	3612066		2065	4195	6260	SO:0001583	missense	58509							g.chr19:3612066T>C	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.2132A>G	19.37:g.3612066T>C	ENSP00000415078:p.His711Arg					CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Missense_Mutation_p.H643R|CACTIN_ENST00000248420.5_Missense_Mutation_p.H711R	p.H711R	NM_001080543.1	NP_001074012.1					10	2184	-								A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	c.2132A>G	CCDS45920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.095|6.095	0.385711|0.385711	0.11524|0.11524	.|.	.|.	ENSG00000105298|ENSG00000226800	ENST00000429344;ENST00000248420;ENST00000221899|ENST00000447295	.|.	.|.	.|.	4.27|4.27	2.14|2.14	0.27477|0.27477	Cactin protein, cactus-binding domain, C-terminal (1);|.	0.054688|.	0.64402|.	D|.	0.000001|.	T|T	0.61850|0.61850	0.2380|0.2380	M|M	0.69463|0.69463	2.115|2.115	0.58432|0.58432	D|D	0.999994|0.999994	P;P|.	0.41345|.	0.746;0.668|.	B;P|.	0.45406|.	0.43;0.479|.	T|T	0.59241|0.59241	-0.7491|-0.7491	9|6	0.26408|0.62326	T|D	0.33|0.03	.|.	6.3436|6.3436	0.21337|0.21337	0.0:0.0869:0.1593:0.7538|0.0:0.0869:0.1593:0.7538	.|.	711;711|.	Q8WUQ7-2;Q8WUQ7|.	.;CS029_HUMAN|.	R|A	711;711;643|113	.|.	ENSP00000221899:H643R|ENSP00000412459:V113A	H|V	-|+	2|2	0|0	C19orf29|C19orf29OS	3563066|3563066	1.000000|1.000000	0.71417|0.71417	0.295000|0.295000	0.24960|0.24960	0.001000|0.001000	0.01503|0.01503	5.734000|5.734000	0.68580|0.68580	0.283000|0.283000	0.22279|0.22279	-1.207000|-1.207000	0.01640|0.01640	CAC|GTG		0.612	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			5	249	0	0	0	1	0	5	249				
BAG5	9529	broad.mit.edu	37	14	104027343	104027343	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:104027343T>C	ENST00000445922.2	-	2	405	c.159A>G	c.(157-159)atA>atG	p.I53M	BAG5_ENST00000299204.4_Missense_Mutation_p.I53M|BAG5_ENST00000337322.4_Missense_Mutation_p.I94M|APOPT1_ENST00000556253.2_5'Flank|APOPT1_ENST00000247618.4_5'Flank|RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000409074.2_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	53	BAG 1. {ECO:0000255|PROSITE- ProRule:PRU00369}.				negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			CTACAGAGTCTATTTCAAAAA	0.413																																					NSCLC(171;1832 2055 18950 31566 41632)	ENST00000445922.2																			0				endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24						c.(157-159)atA>atG		BCL2-associated athanogene 5							94.0	91.0	92.0					14																	104027343		2203	4300	6503	SO:0001583	missense	9529				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding	g.chr14:104027343T>C	AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.159A>G	14.37:g.104027343T>C	ENSP00000391713:p.Ile53Met					BAG5_ENST00000299204.4_Missense_Mutation_p.I53M|RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000337322.4_Missense_Mutation_p.I94M	p.I53M	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	Epithelial(46;0.144)		2	405	-		Melanoma(154;0.155)	53			BAG 1.		O94950|Q86W59	Missense_Mutation	SNP	ENST00000445922.2	37	c.159A>G	CCDS9982.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.520676	0.64747	.	.	ENSG00000166170	ENST00000299204;ENST00000445922;ENST00000337322;ENST00000557666	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.76	-5.23	0.02798	BAG domain (3);	0.051778	0.85682	D	0.000000	D	0.87305	0.6144	L	0.51422	1.61	0.41782	D	0.98982	D;D	0.71674	0.986;0.998	P;D	0.63381	0.894;0.914	T	0.82997	-0.0179	10	0.87932	D	0	-21.0258	4.0456	0.09771	0.1905:0.0608:0.3578:0.3908	.	53;94	Q9UL15;Q9UL15-2	BAG5_HUMAN;.	M	53;53;94;53	ENSP00000299204:I53M;ENSP00000391713:I53M;ENSP00000338814:I94M;ENSP00000450497:I53M	ENSP00000299204:I53M	I	-	3	3	BAG5	103097096	0.023000	0.18921	0.978000	0.43139	0.996000	0.88848	-1.292000	0.02772	-0.446000	0.07149	0.533000	0.62120	ATA		0.413	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414990.1			30	91	0	0	0	1	0	30	91				
FAM120A	23196	broad.mit.edu	37	9	96326712	96326712	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:96326712A>T	ENST00000277165.6	+	18	3441	c.3247A>T	c.(3247-3249)Aat>Tat	p.N1083Y	FAM120A_ENST00000340893.4_Missense_Mutation_p.N1037Y|AL353629.1_ENST00000582353.1_RNA|FAM120A_ENST00000333936.5_Missense_Mutation_p.N1111Y	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	1083	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCCTTGAATAATGACTCTAA	0.527																																						ENST00000277165.6																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(3247-3249)Aat>Tat		family with sequence similarity 120A							73.0	78.0	76.0					9																	96326712		2203	4300	6503	SO:0001583	missense	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96326712A>T	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.3247A>T	9.37:g.96326712A>T	ENSP00000277165:p.Asn1083Tyr					FAM120A_ENST00000333936.5_Missense_Mutation_p.N1111Y|FAM120A_ENST00000340893.4_Missense_Mutation_p.N1037Y	p.N1083Y	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN			18	3441	+			1083			RNA binding.		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	c.3247A>T	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.498869	0.44455	.	.	ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765	T;T;T;T	0.48836	1.41;1.39;1.37;0.8	5.45	5.45	0.79879	.	0.244695	0.35903	N	0.002901	T	0.45498	0.1345	N	0.24115	0.695	0.49389	D	0.999784	B;P;P	0.42620	0.115;0.731;0.785	B;P;P	0.48141	0.244;0.549;0.568	T	0.49021	-0.8982	10	0.62326	D	0.03	-3.4696	15.5024	0.75709	1.0:0.0:0.0:0.0	.	1037;1111;1083	Q9NZB2-4;Q9NZB2-6;Q9NZB2	.;.;F120A_HUMAN	Y	1083;1111;1037;459	ENSP00000277165:N1083Y;ENSP00000334918:N1111Y;ENSP00000344698:N1037Y;ENSP00000412440:N459Y	ENSP00000277165:N1083Y	N	+	1	0	FAM120A	95366533	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.786000	0.85741	2.069000	0.61940	0.482000	0.46254	AAT		0.527	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		34	114	0	0	0	1	0	34	114				
KRT37	8688	broad.mit.edu	37	17	39579038	39579038	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:39579038G>T	ENST00000225550.3	-	3	723	c.724C>A	c.(724-726)Cac>Aac	p.H242N	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	242	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.H242D(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ACCTGCTCGTGGTTGCTCTTG	0.687																																						ENST00000225550.3																			1	Substitution - Missense(1)	p.H242D(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(724-726)Cac>Aac		keratin 37							44.0	35.0	38.0					17																	39579038		2203	4299	6502	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39579038G>T	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.724C>A	17.37:g.39579038G>T	ENSP00000225550:p.His242Asn					AC003958.2_ENST00000432258.1_RNA	p.H242N	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN			3	723	-		Breast(137;0.000496)	242			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000225550.3	37	c.724C>A	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	21.8	4.201827	0.79015	.	.	ENSG00000108417	ENST00000225550	D	0.91295	-2.82	4.86	4.86	0.63082	Filament (1);	0.000000	0.48286	D	0.000195	D	0.96442	0.8839	H	0.95780	3.72	0.47778	D	0.999516	D	0.62365	0.991	P	0.62560	0.904	D	0.97833	1.0264	10	0.87932	D	0	.	16.9589	0.86267	0.0:0.0:1.0:0.0	.	242	O76014	KRT37_HUMAN	N	242	ENSP00000225550:H242N	ENSP00000225550:H242N	H	-	1	0	KRT37	36832564	1.000000	0.71417	0.965000	0.40720	0.714000	0.41099	9.837000	0.99465	2.253000	0.74438	0.655000	0.94253	CAC		0.687	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		6	47	1	0	3.59834e-05	1	3.66827e-05	6	47				
TMEM136	219902	broad.mit.edu	37	11	120201091	120201091	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:120201091C>A	ENST00000375095.2	+	3	846	c.605C>A	c.(604-606)gCt>gAt	p.A202D	TMEM136_ENST00000529187.1_Intron|TMEM136_ENST00000531346.1_3'UTR|TMEM136_ENST00000314475.2_Missense_Mutation_p.A224D	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	202	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		GCGATGTATGCTGTGTCTTGG	0.527																																						ENST00000375095.2																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(604-606)gCt>gAt		transmembrane protein 136							147.0	113.0	125.0					11																	120201091		2203	4299	6502	SO:0001583	missense	219902					integral to membrane		g.chr11:120201091C>A	BC015232	CCDS8432.1, CCDS55792.1, CCDS55793.1	11q23.3	2006-11-24				ENSG00000181264			28280	protein-coding gene	gene with protein product						12477932	Standard	NM_174926		Approved	MGC17839	uc001pxj.3	Q6ZRR5		ENST00000375095.2:c.605C>A	11.37:g.120201091C>A	ENSP00000364236:p.Ala202Asp					TMEM136_ENST00000531346.1_3'UTR|TMEM136_ENST00000529187.1_Intron|TMEM136_ENST00000314475.2_Missense_Mutation_p.A224D	p.A202D	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)	3	846	+		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)	202			TLC.		B4DGQ4|B4E230|Q8IZ79	Missense_Mutation	SNP	ENST00000375095.2	37	c.605C>A	CCDS55793.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210392	0.58343	.	.	ENSG00000181264	ENST00000375095;ENST00000314475	D;D	0.85702	-2.02;-2.02	6.06	1.93	0.25924	TRAM/LAG1/CLN8 homology domain (3);	0.369479	0.33477	N	0.004871	T	0.78679	0.4321	L	0.43152	1.355	0.80722	D	1	P;B	0.41569	0.755;0.427	B;B	0.42422	0.387;0.283	T	0.73375	-0.4002	10	0.48119	T	0.1	-13.0708	6.9317	0.24445	0.0:0.5584:0.2347:0.2069	.	224;202	Q6ZRR5-3;Q6ZRR5	.;TM136_HUMAN	D	202;224	ENSP00000364236:A202D;ENSP00000312672:A224D	ENSP00000312672:A224D	A	+	2	0	TMEM136	119706301	0.459000	0.25768	0.377000	0.26055	0.974000	0.67602	1.100000	0.31025	0.438000	0.26450	0.655000	0.94253	GCT		0.527	TMEM136-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388045.1	NM_174926		4	57	1	0	0.00909568	1	0.00915862	4	57				
PRDM5	11107	broad.mit.edu	37	4	121706189	121706189	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:121706189G>T	ENST00000264808.3	-	11	1486	c.1246C>A	c.(1246-1248)Cca>Aca	p.P416T	PRDM5_ENST00000428209.2_Missense_Mutation_p.P385T|PRDM5_ENST00000515109.1_Missense_Mutation_p.P385T	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	416					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AAAGAAAATGGGGTCCGGAAC	0.403																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1246-1248)Cca>Aca		PR domain containing 5							105.0	95.0	98.0					4																	121706189		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121706189G>T	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1246C>A	4.37:g.121706189G>T	ENSP00000264808:p.Pro416Thr					PRDM5_ENST00000515109.1_Missense_Mutation_p.P385T|PRDM5_ENST00000428209.2_Missense_Mutation_p.P385T	p.P416T	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			11	1486	-			416					Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.1246C>A	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765638	0.90020	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.15139	2.45;3.96;2.45	5.31	5.31	0.75309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.051407	0.85682	N	0.000000	T	0.27454	0.0674	N	0.20304	0.555	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;P;D	0.80764	0.994;0.892;0.994	T	0.07065	-1.0792	10	0.19147	T	0.46	-8.2302	18.9668	0.92700	0.0:0.0:1.0:0.0	.	385;385;416	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	T	416;385;385	ENSP00000264808:P416T;ENSP00000422309:P385T;ENSP00000404832:P385T	ENSP00000264808:P416T	P	-	1	0	PRDM5	121925639	1.000000	0.71417	0.973000	0.42090	0.968000	0.65278	9.578000	0.98200	2.482000	0.83794	0.591000	0.81541	CCA		0.403	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			4	80	1	0	0.00024832	1	0.000251724	4	80				
TTI2	80185	broad.mit.edu	37	8	33361334	33361334	+	Silent	SNP	G	G	A	rs140275385		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:33361334G>A	ENST00000431156.2	-	5	1665	c.1047C>T	c.(1045-1047)caC>caT	p.H349H	TTI2_ENST00000360742.5_Silent_p.H349H|TTI2_ENST00000520636.1_Silent_p.H318H|TTI2_ENST00000519356.1_5'UTR	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	349																	CTGGCTCCATGTGGGTCAGGA	0.522																																						ENST00000431156.2																			0											c.(1045-1047)caC>caT		TELO2 interacting protein 2		G	,	0,4406		0,0,2203	66.0	55.0	59.0		1047,1047	2.3	1.0	8	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TTI2	NM_001102401.1,NM_025115.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	349/509,349/509	33361334	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80185						binding	g.chr8:33361334G>A	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.1047C>T	8.37:g.33361334G>A						TTI2_ENST00000520636.1_Silent_p.H318H|TTI2_ENST00000360742.5_Silent_p.H349H|TTI2_ENST00000519356.1_5'UTR	p.H349H	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN			5	1665	-			349					D3DSV7|Q96IM2|Q9H5N4	Silent	SNP	ENST00000431156.2	37	c.1047C>T	CCDS6090.1																																																																																				0.522	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		16	37	0	0	0	1	0	16	37				
KIAA1429	25962	broad.mit.edu	37	8	95500996	95500996	+	Silent	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:95500996T>G	ENST00000297591.5	-	24	5452	c.5377A>C	c.(5377-5379)Aga>Cga	p.R1793R	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1793					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AACTTTCCTCTTGAGCCTCCA	0.488																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(5377-5379)Aga>Cga		KIAA1429							169.0	147.0	155.0					8																	95500996		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95500996T>G	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.5377A>C	8.37:g.95500996T>G						KIAA1429_ENST00000437199.1_3'UTR	p.R1793R	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		24	5452	-	Breast(36;3.29e-05)		1793					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.5377A>C	CCDS34923.1																																																																																				0.488	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		67	290	0	0	0	1	0	67	290				
FAM3C	10447	broad.mit.edu	37	7	120991304	120991304	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:120991304G>A	ENST00000359943.3	-	9	700	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	163					multicellular organismal development (GO:0007275)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	cytokine activity (GO:0005125)			kidney(1)|lung(8)	9	all_neural(327;0.117)					GCAATGAGCCGCCGTGCCTCA	0.423																																						ENST00000359943.3																			0				kidney(1)|lung(8)	9						c.(487-489)Cgg>Tgg		family with sequence similarity 3, member C							52.0	49.0	50.0					7																	120991304		2203	4300	6503	SO:0001583	missense	10447				multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity	g.chr7:120991304G>A	D87120	CCDS5782.1	7q22.1-q31.1	2014-08-14			ENSG00000196937	ENSG00000196937			18664	protein-coding gene	gene with protein product	"""predicted osteoblast protein"", ""interleukin-like EMT inducer"", ""interleukin-like epithelial-mesenchymal transition inducer"""	608618				12160727	Standard	NM_014888		Approved	GS3876, ILEI	uc010lkm.3	Q92520	OTTHUMG00000156979	ENST00000359943.3:c.487C>T	7.37:g.120991304G>A	ENSP00000353025:p.Arg163Trp						p.R163W	NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN			9	700	-	all_neural(327;0.117)		163					A6NDN2|A8K3R7	Missense_Mutation	SNP	ENST00000359943.3	37	c.487C>T	CCDS5782.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981372	0.74474	.	.	ENSG00000196937	ENST00000359943	T	0.46063	0.88	5.7	1.18	0.20946	.	0.373264	0.30311	N	0.009909	T	0.35566	0.0936	L	0.39245	1.2	0.27695	N	0.945977	D	0.55605	0.972	P	0.47162	0.54	T	0.25467	-1.0131	10	0.87932	D	0	-3.8957	8.1818	0.31315	0.0849:0.0:0.2649:0.6503	.	163	Q92520	FAM3C_HUMAN	W	163	ENSP00000353025:R163W	ENSP00000353025:R163W	R	-	1	2	FAM3C	120778540	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	3.684000	0.54671	0.689000	0.31550	0.591000	0.81541	CGG		0.423	FAM3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346945.1	NM_001040020		10	32	0	0	0	1	0	10	32				
PEX6	5190	broad.mit.edu	37	6	42933788	42933788	+	Missense_Mutation	SNP	G	G	A	rs267608239		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:42933788G>A	ENST00000304611.8	-	12	2425	c.2356C>T	c.(2356-2358)Cgg>Tgg	p.R786W	PEX6_ENST00000244546.4_Intron	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	786					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCACCTTCCCGCACATTCTCC	0.577																																						ENST00000304611.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15						c.(2356-2358)Cgg>Tgg		peroxisomal biogenesis factor 6							190.0	170.0	177.0					6																	42933788		2203	4300	6503	SO:0001583	missense	5190				protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr6:42933788G>A	U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.2356C>T	6.37:g.42933788G>A	ENSP00000303511:p.Arg786Trp					PEX6_ENST00000244546.4_Intron	p.R786W	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)		12	2425	-			786					Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	ENST00000304611.8	37	c.2356C>T	CCDS4877.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724947	0.68959	.	.	ENSG00000124587	ENST00000304611	D	0.94417	-3.42	5.49	3.49	0.39957	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.051557	0.85682	D	0.000000	D	0.98337	0.9448	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99852	1.1073	10	0.87932	D	0	-20.7535	15.6151	0.76760	0.0:0.0:0.7384:0.2616	.	786	Q13608	PEX6_HUMAN	W	786	ENSP00000303511:R786W	ENSP00000303511:R786W	R	-	1	2	PEX6	43041766	1.000000	0.71417	0.990000	0.47175	0.945000	0.59286	3.916000	0.56416	1.287000	0.44583	-0.311000	0.09066	CGG		0.577	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040569.1	NM_000287		45	179	0	0	0	1	0	45	179				
KCNIP4	80333	broad.mit.edu	37	4	20884321	20884321	+	Missense_Mutation	SNP	C	C	A	rs375511471		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:20884321C>A	ENST00000382152.2	-	2	240	c.73G>T	c.(73-75)Gct>Tct	p.A25S	KCNIP4_ENST00000382150.4_Intron|KCNIP4_ENST00000382149.4_Intron|KCNIP4_ENST00000359001.5_Intron|KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000447367.2_Intron	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	25	KIS. {ECO:0000250}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CTGTTCTGAGCGTACAGGAAA	0.498																																						ENST00000382152.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(73-75)Gct>Tct		Kv channel interacting protein 4							86.0	85.0	85.0					4																	20884321		1976	4173	6149	SO:0001583	missense	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20884321C>A	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.73G>T	4.37:g.20884321C>A	ENSP00000371587:p.Ala25Ser					KCNIP4_ENST00000359001.5_Intron|KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000382149.4_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000382150.4_Intron|KCNIP4_ENST00000447367.2_Intron	p.A25S	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN			2	240	-		Breast(46;0.134)	25			KIS (By similarity).		Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	c.73G>T	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	C	6.718	0.501235	0.12822	.	.	ENSG00000185774	ENST00000382152	T	0.71103	-0.54	5.66	1.56	0.23342	.	0.556849	0.18933	N	0.127170	T	0.37404	0.1002	N	0.03608	-0.345	0.80722	D	1	.	.	.	.	.	.	T	0.07083	-1.0791	8	0.09590	T	0.72	.	3.5983	0.08014	0.271:0.4214:0.0:0.3075	.	.	.	.	S	25	ENSP00000371587:A25S	ENSP00000371587:A25S	A	-	1	0	KCNIP4	20493419	0.431000	0.25546	0.997000	0.53966	0.998000	0.95712	-0.264000	0.08658	0.245000	0.21373	0.650000	0.86243	GCT		0.498	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		12	32	1	0	1.41608e-15	1	1.48453e-15	12	32				
RBPMS	11030	broad.mit.edu	37	8	30402247	30402247	+	Intron	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:30402247T>A	ENST00000320203.4	+	6	1110				RBPMS_ENST00000519647.1_Intron|RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000287771.5_Intron|RBPMS_ENST00000517860.1_Missense_Mutation_p.S212T|RBPMS_ENST00000339877.4_Intron|RBPMS_ENST00000520161.1_Intron|RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000520191.1_Missense_Mutation_p.S108T	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing						positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		AGCTAACAGATCCACCCTCAA	0.488																																						ENST00000520191.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(322-324)Tcc>Acc		RNA binding protein with multiple splicing																																				SO:0001627	intron_variant	11030				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	g.chr8:30402247T>A	D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"""RNA binding motif (RRM) containing"""	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.528+106T>A	8.37:g.30402247T>A						RBPMS_ENST00000320203.4_Intron|RBPMS_ENST00000339877.4_Intron|RBPMS_ENST00000287771.5_Intron|RBPMS_ENST00000519647.1_Intron|RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000517860.1_Missense_Mutation_p.S212T|RBPMS_ENST00000520161.1_Intron|RBPMS_ENST00000397323.4_Intron	p.S108T			Q93062	RBPMS_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)	6	752	+			0					D3DSU9|Q92516|Q92517|Q92518|Q96J26	Missense_Mutation	SNP	ENST00000320203.4	37	c.322T>A	CCDS6077.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.074317	0.55646	.	.	ENSG00000157110	ENST00000517860;ENST00000520191	T	0.30981	1.51	5.35	-6.14	0.02111	.	.	.	.	.	T	0.13927	0.0337	.	.	.	0.80722	D	1	B	0.19817	0.039	B	0.12156	0.007	T	0.14337	-1.0476	7	.	.	.	.	6.353	0.21387	0.0:0.2966:0.3212:0.3822	.	212	B4E3T4	.	T	212;108	ENSP00000428675:S212T	.	S	+	1	0	RBPMS	30521789	0.999000	0.42202	0.818000	0.32626	0.992000	0.81027	0.496000	0.22499	-1.296000	0.02353	-0.290000	0.09829	TCC		0.488	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2			18	56	0	0	0	1	0	18	56				
PCDHB11	56125	broad.mit.edu	37	5	140580935	140580935	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140580935C>T	ENST00000354757.3	+	1	1588	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	PCDHB11_ENST00000536699.1_Missense_Mutation_p.R165C	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCGACTTCCGCGTGGGCGC	0.672																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(1588-1590)Cgc>Tgc									55.0	72.0	66.0					5																	140580935		2202	4300	6502	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580935C>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1588C>T	5.37:g.140580935C>T	ENSP00000346802:p.Arg530Cys					PCDHB11_ENST00000536699.1_Missense_Mutation_p.R165C	p.R530C	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1588	+			530			Cadherin 5.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.1588C>T	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	c	8.307	0.821139	0.16678	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.01767	4.65;4.65	2.51	-5.02	0.02982	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.02418	0.0074	L	0.60957	1.885	0.09310	N	1	B	0.27286	0.174	B	0.36504	0.226	T	0.43637	-0.9379	9	0.52906	T	0.07	.	2.86	0.05584	0.2783:0.282:0.3446:0.0951	.	530	Q9Y5F2	PCDBB_HUMAN	C	165;530	ENSP00000440344:R165C;ENSP00000346802:R530C	ENSP00000346802:R530C	R	+	1	0	PCDHB11	140561119	0.000000	0.05858	0.002000	0.10522	0.089000	0.18198	-3.816000	0.00359	-1.199000	0.02666	0.298000	0.19748	CGC		0.672	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		66	183	0	0	0	1	0	66	183				
TRIM67	440730	broad.mit.edu	37	1	231337181	231337181	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:231337181T>C	ENST00000366653.5	+	5	1452	c.1452T>C	c.(1450-1452)tcT>tcC	p.S484S	TRIM67_ENST00000366652.2_Silent_p.S484S|TRIM67_ENST00000444294.3_Silent_p.S484S|TRIM67_ENST00000449018.3_Silent_p.S422S			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	484	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CGAAAGTGTCTGCGGAGTTTG	0.562																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1450-1452)tcT>tcC		tripartite motif containing 67							48.0	52.0	50.0					1																	231337181		2021	4192	6213	SO:0001819	synonymous_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231337181T>C	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1452T>C	1.37:g.231337181T>C						TRIM67_ENST00000366652.2_Silent_p.S484S|TRIM67_ENST00000366653.5_Silent_p.S484S|TRIM67_ENST00000449018.3_Silent_p.S422S	p.S484S	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			5	2310	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	484			COS.		Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	c.1452T>C	CCDS44333.1																																																																																				0.562	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		9	26	0	0	0	1	0	9	26				
CD3EAP	10849	broad.mit.edu	37	19	45912313	45912313	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:45912313A>G	ENST00000309424.3	+	3	1575	c.1087A>G	c.(1087-1089)Acc>Gcc	p.T363A	PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.T365A|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	363					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		CCCAGGGGGGACCATGGCGCC	0.577																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(1087-1089)Acc>Gcc		CD3e molecule, epsilon associated protein							38.0	47.0	44.0					19																	45912313		2203	4298	6501	SO:0001583	missense	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45912313A>G	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.1087A>G	19.37:g.45912313A>G	ENSP00000310966:p.Thr363Ala					ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.T365A	p.T363A	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1575	+		all_neural(266;0.224)|Ovarian(192;0.231)	363					Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	ENST00000309424.3	37	c.1087A>G	CCDS12661.1	.	.	.	.	.	.	.	.	.	.	A	8.387	0.838917	0.16891	.	.	ENSG00000117877	ENST00000309424	T	0.11169	2.8	5.28	-1.44	0.08856	.	1.383870	0.04490	N	0.379391	T	0.05227	0.0139	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.40213	-0.9575	10	0.19147	T	0.46	0.0078	5.6623	0.17676	0.4576:0.321:0.2214:0.0	.	365;363	O15446-2;O15446	.;RPA34_HUMAN	A	363	ENSP00000310966:T363A	ENSP00000310966:T363A	T	+	1	0	CD3EAP	50604153	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.034000	0.01424	-0.275000	0.09219	0.402000	0.26972	ACC		0.577	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		39	87	0	0	0	1	0	39	87				
SP4	6671	broad.mit.edu	37	7	21521694	21521694	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:21521694G>C	ENST00000222584.3	+	5	2278	c.2060G>C	c.(2059-2061)aGa>aCa	p.R687T		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	687					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TGTGGCAAAAGATTCACACGG	0.378																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2059-2061)aGa>aCa		Sp4 transcription factor							137.0	131.0	133.0					7																	21521694		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21521694G>C		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.2060G>C	7.37:g.21521694G>C	ENSP00000222584:p.Arg687Thr						p.R687T	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			5	2278	+			687					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.2060G>C	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	34	5.403719	0.96051	.	.	ENSG00000105866	ENST00000222584	T	0.53206	0.63	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.58864	0.2152	N	0.21617	0.685	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	T	0.62148	-0.6915	10	0.87932	D	0	.	20.1935	0.98237	0.0:0.0:1.0:0.0	.	687	Q02446	SP4_HUMAN	T	687	ENSP00000222584:R687T	ENSP00000222584:R687T	R	+	2	0	SP4	21488219	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.779000	0.95612	0.591000	0.81541	AGA		0.378	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		6	152	0	0	0	1	0	6	152				
GPR112	139378	broad.mit.edu	37	X	135405143	135405143	+	Missense_Mutation	SNP	G	G	T	rs201359256		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:135405143G>T	ENST00000394143.1	+	5	568	c.277G>T	c.(277-279)Gca>Tca	p.A93S	GPR112_ENST00000287534.4_Missense_Mutation_p.A30S|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.A93S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	93					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCTTGGACTTGCAGGAGACCA	0.428																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(277-279)Gca>Tca		G protein-coupled receptor 112							164.0	149.0	154.0					X																	135405143		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135405143G>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.277G>T	X.37:g.135405143G>T	ENSP00000377699:p.Ala93Ser					GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.A93S|GPR112_ENST00000287534.4_Missense_Mutation_p.A30S	p.A93S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			5	568	+	Acute lymphoblastic leukemia(192;0.000127)		93					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.277G>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405725	0.42715	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000287534	T;T;T	0.34275	3.34;3.34;1.37	5.62	4.76	0.60689	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.24392	0.0591	N	0.19112	0.55	0.09310	N	0.999994	B	0.31989	0.35	B	0.31614	0.133	T	0.13575	-1.0504	9	0.33141	T	0.24	.	10.688	0.45854	0.0:0.0:0.6543:0.3457	.	93	Q8IZF6	GP112_HUMAN	S	93;93;30	ENSP00000377699:A93S;ENSP00000359686:A93S;ENSP00000287534:A30S	ENSP00000287534:A30S	A	+	1	0	GPR112	135232809	0.414000	0.25408	1.000000	0.80357	0.979000	0.70002	1.566000	0.36396	1.114000	0.41781	0.513000	0.50165	GCA		0.428	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			77	72	1	0	8.70839e-23	1	9.20852e-23	77	72				
ALX4	60529	broad.mit.edu	37	11	44296905	44296905	+	Missense_Mutation	SNP	C	C	T	rs200419726		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:44296905C>T	ENST00000329255.3	-	2	873	c.770G>A	c.(769-771)cGc>cAc	p.R257H		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	257			R -> T (in dbSNP:rs3824915).		anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GACCTGCACGCGGGCCTCAGT	0.622																																						ENST00000329255.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(769-771)cGc>cAc		ALX homeobox 4							55.0	55.0	55.0					11																	44296905		2203	4299	6502	SO:0001583	missense	60529				hair follicle development			g.chr11:44296905C>T	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.770G>A	11.37:g.44296905C>T	ENSP00000332744:p.Arg257His						p.R257H	NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN			2	873	-			257		R -> T (in dbSNP:rs3824915).			Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	c.770G>A	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086654	0.76642	.	.	ENSG00000052850	ENST00000329255	D	0.96459	-4.02	3.74	3.74	0.42951	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.124766	0.53938	D	0.000049	D	0.98664	0.9552	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99744	1.1016	10	0.87932	D	0	.	15.7255	0.77756	0.0:1.0:0.0:0.0	.	257	Q9H161	ALX4_HUMAN	H	257	ENSP00000332744:R257H	ENSP00000332744:R257H	R	-	2	0	ALX4	44253481	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	7.623000	0.83113	1.929000	0.55896	0.455000	0.32223	CGC		0.622	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			24	71	0	0	0	1	0	24	71				
NPR2	4882	broad.mit.edu	37	9	35806427	35806427	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35806427G>A	ENST00000342694.2	+	16	2666	c.2411G>A	c.(2410-2412)cGc>cAc	p.R804H		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	804					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTCCTGCTGCGCATGGAACAG	0.517																																						ENST00000342694.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(2410-2412)cGc>cAc		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						99.0	91.0	93.0					9																	35806427		2203	4300	6503	SO:0001583	missense	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35806427G>A	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2411G>A	9.37:g.35806427G>A	ENSP00000341083:p.Arg804His						p.R804H	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		16	2666	+	all_epithelial(49;0.161)		804					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.2411G>A	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.776791|4.776791	0.90195|0.90195	.|.	.|.	ENSG00000159899|ENSG00000159899	ENST00000421267|ENST00000342694;ENST00000447210	.|T;D	.|0.88896	.|0.02;-2.44	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Protein kinase-like domain (1);	.|0.000000	.|0.45126	.|D	.|0.000382	D|D	0.96103|0.96103	0.8730|0.8730	M|M	0.92604|0.92604	3.325|3.325	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.962	D|D	0.95932|0.95932	0.8939|0.8939	5|10	.|0.62326	.|D	.|0.03	.|.	19.4575|19.4575	0.94900|0.94900	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|804;804	.|P20594-2;P20594	.|.;ANPRB_HUMAN	T|H	151|804;63	.|ENSP00000341083:R804H;ENSP00000393029:R63H	.|ENSP00000341083:R804H	A|R	+|+	1|2	0|0	NPR2|NPR2	35796427|35796427	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.003000|8.003000	0.88520|0.88520	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.517	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			23	63	0	0	0	1	0	23	63				
CCDC78	124093	broad.mit.edu	37	16	775077	775077	+	Splice_Site	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:775077C>T	ENST00000293889.6	-	6	666		c.e6+1		HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000564545.1_5'Flank|HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78						cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				TGGCCACTCACACACGCGTCA	0.667																																						ENST00000293889.6																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9						c.e6+1		coiled-coil domain containing 78							62.0	62.0	62.0					16																	775077		2199	4300	6499	SO:0001630	splice_region_variant	124093							g.chr16:775077C>T	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.560+1G>A	16.37:g.775077C>T								NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN			6	666	-		Hepatocellular(780;0.0218)						B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Splice_Site	SNP	ENST00000293889.6	37		CCDS32353.1	.	.	.	.	.	.	.	.	.	.	C	9.633	1.136821	0.21123	.	.	ENSG00000162004	ENST00000345165;ENST00000293889	.	.	.	3.93	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2416	0.65961	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC78	715078	0.539000	0.26402	0.997000	0.53966	0.038000	0.13279	1.741000	0.38238	2.505000	0.84491	0.561000	0.74099	.		0.667	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3	NM_173476	Intron	31	111	0	0	0	1	0	31	111				
OR2M4	26245	broad.mit.edu	37	1	248403002	248403002	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:248403002A>G	ENST00000306687.1	+	1	772	c.772A>G	c.(772-774)Atg>Gtg	p.M258V		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	258					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	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)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGCTATGTTCATGTACATGAG	0.522																																						ENST00000306687.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(772-774)Atg>Gtg		olfactory receptor, family 2, subfamily M, member 4							129.0	113.0	118.0					1																	248403002		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248403002A>G	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.772A>G	1.37:g.248403002A>G	ENSP00000306688:p.Met258Val						p.M258V	NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	772	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		258					Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.772A>G	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	a	8.614	0.889801	0.17540	.	.	ENSG00000171180	ENST00000306687	T	0.00137	8.68	3.34	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.540328	0.16638	N	0.205776	T	0.00109	0.0003	N	0.20807	0.61	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.35525	-0.9785	10	0.52906	T	0.07	.	2.8838	0.05655	0.6584:0.0:0.1227:0.2189	.	258	Q96R27	OR2M4_HUMAN	V	258	ENSP00000306688:M258V	ENSP00000306688:M258V	M	+	1	0	OR2M4	246469625	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-0.059000	0.11731	1.499000	0.48617	0.443000	0.29094	ATG		0.522	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		20	73	0	0	0	1	0	20	73				
APBA2	321	broad.mit.edu	37	15	29346241	29346241	+	Missense_Mutation	SNP	C	C	T	rs575379564		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:29346241C>T	ENST00000558402.1	+	5	753	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	APBA2_ENST00000561069.1_Missense_Mutation_p.R52W|APBA2_ENST00000411764.1_Missense_Mutation_p.R52W|APBA2_ENST00000558259.1_Missense_Mutation_p.R52W|APBA2_ENST00000558330.1_Missense_Mutation_p.R52W			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	52					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGCTGCCCTGCGGCCAGAGAG	0.657																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(154-156)Cgg>Tgg		amyloid beta (A4) precursor protein-binding, family A, member 2							48.0	58.0	55.0					15																	29346241		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29346241C>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.154C>T	15.37:g.29346241C>T	ENSP00000453293:p.Arg52Trp					APBA2_ENST00000558330.1_Missense_Mutation_p.R52W|APBA2_ENST00000411764.1_Missense_Mutation_p.R52W|APBA2_ENST00000561069.1_Missense_Mutation_p.R52W|APBA2_ENST00000558259.1_Missense_Mutation_p.R52W	p.R52W			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	5	753	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	52					E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.154C>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998797	0.54147	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.49720	0.77	5.25	-0.682	0.11339	.	0.363928	0.24851	N	0.035100	T	0.45054	0.1323	M	0.66939	2.045	0.09310	N	0.999999	D;D;D	0.60160	0.987;0.973;0.973	P;P;P	0.48677	0.586;0.483;0.483	T	0.40213	-0.9575	10	0.87932	D	0	.	4.2578	0.10726	0.5795:0.2278:0.1058:0.0868	.	52;52;52	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	W	52	ENSP00000409312:R52W	ENSP00000219865:R52W	R	+	1	2	APBA2	27133533	0.010000	0.17322	0.018000	0.16275	0.726000	0.41606	0.341000	0.19909	0.153000	0.19213	0.650000	0.86243	CGG		0.657	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		5	106	0	0	0	1	0	5	106				
S100B	6285	broad.mit.edu	37	21	48019297	48019297	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:48019297G>C	ENST00000291700.4	-	3	454	c.258C>G	c.(256-258)caC>caG	p.H86Q	S100B_ENST00000397648.1_Missense_Mutation_p.H86Q|S100B_ENST00000367071.4_3'UTR	NM_006272.2	NP_006263.1	P04271	S100B_HUMAN	S100 calcium binding protein B	86					astrocyte differentiation (GO:0048708)|axonogenesis (GO:0007409)|cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cell shape (GO:0008360)|regulation of neuronal synaptic plasticity (GO:0048168)|response to glucocorticoid (GO:0051384)|response to methylmercury (GO:0051597)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RAGE receptor binding (GO:0050786)|S100 protein binding (GO:0044548)|tau protein binding (GO:0048156)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5	Breast(49;0.247)	Lung NSC(3;0.245)		OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241)	Olopatadine(DB00768)	CAAAGAACTCGTGGCAGGCAG	0.473																																						ENST00000291700.4																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(256-258)caC>caG		S100 calcium binding protein B							149.0	135.0	140.0					21																	48019297		2203	4300	6503	SO:0001583	missense	6285				axonogenesis|cell proliferation|central nervous system development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular region|nucleus|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|RAGE receptor binding|S100 beta binding|tau protein binding|zinc ion binding	g.chr21:48019297G>C	M59488	CCDS13736.1	21q22.3	2013-01-10	2006-09-11		ENSG00000160307	ENSG00000160307		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10500	protein-coding gene	gene with protein product		176990	"""S100 calcium binding protein, beta (neural)"""			2394738, 1998503	Standard	NM_006272		Approved	S100beta	uc002zju.1	P04271	OTTHUMG00000090715	ENST00000291700.4:c.258C>G	21.37:g.48019297G>C	ENSP00000291700:p.His86Gln					S100B_ENST00000367071.4_3'UTR|S100B_ENST00000397648.1_Missense_Mutation_p.H86Q	p.H86Q	NM_006272.2	NP_006263.1	P04271	S100B_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241)	3	454	-	Breast(49;0.247)	Lung NSC(3;0.245)	86					D3DSN6	Missense_Mutation	SNP	ENST00000291700.4	37	c.258C>G	CCDS13736.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708993	0.48517	.	.	ENSG00000160307	ENST00000291700;ENST00000397648	T;T	0.14893	2.47;2.47	5.1	-4.89	0.03103	EF-hand-like domain (1);	.	.	.	.	T	0.18045	0.0433	.	.	.	0.37250	D	0.9065	P	0.50528	0.936	P	0.46850	0.529	T	0.30001	-0.9993	8	0.66056	D	0.02	.	9.7926	0.40715	0.6993:0.1192:0.1814:0.0	.	86	P04271	S100B_HUMAN	Q	86	ENSP00000291700:H86Q;ENSP00000380769:H86Q	ENSP00000291700:H86Q	H	-	3	2	S100B	46843725	0.004000	0.15560	0.848000	0.33437	0.302000	0.27658	-1.090000	0.03372	-1.115000	0.02973	0.655000	0.94253	CAC		0.473	S100B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207427.1	NM_006272		4	125	0	0	0	1	0	4	125				
KCNT1	57582	broad.mit.edu	37	9	138667192	138667192	+	Silent	SNP	C	C	T	rs370521183		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:138667192C>T	ENST00000263604.3	+	20	2223	c.2223C>T	c.(2221-2223)atC>atT	p.I741I	KCNT1_ENST00000298480.5_Silent_p.I760I|KCNT1_ENST00000491806.2_Silent_p.I727I|KCNT1_ENST00000371757.2_Silent_p.I760I|KCNT1_ENST00000488444.2_Silent_p.I741I|KCNT1_ENST00000487664.1_Silent_p.I715I|KCNT1_ENST00000486577.2_Silent_p.I719I|KCNT1_ENST00000490355.2_Silent_p.I739I			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	741			I -> M (in EIEE14). {ECO:0000269|PubMed:23086397}.		potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CGCCCTACATCGGCAGCTCCC	0.662																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2278-2280)atC>atT		potassium channel, subfamily T, member 1				0,4406		0,0,2203	98.0	75.0	83.0		2280	-4.4	1.0	9		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCNT1	NM_020822.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		760/1236	138667192	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138667192C>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2223C>T	9.37:g.138667192C>T						KCNT1_ENST00000488444.2_Silent_p.I741I|KCNT1_ENST00000263604.3_Silent_p.I741I|KCNT1_ENST00000486577.2_Silent_p.I719I|KCNT1_ENST00000371757.2_Silent_p.I760I|KCNT1_ENST00000487664.1_Silent_p.I715I|KCNT1_ENST00000490355.2_Silent_p.I739I|KCNT1_ENST00000491806.2_Silent_p.I727I	p.I760I			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	20	2354	+		Myeloproliferative disorder(178;0.0821)	760					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.2280C>T																																																																																					0.662	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		28	72	0	0	0	1	0	28	72				
SCAF11	9169	broad.mit.edu	37	12	46328280	46328280	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:46328280A>G	ENST00000369367.3	-	7	705	c.472T>C	c.(472-474)Tta>Cta	p.L158L	SCAF11_ENST00000419565.2_Silent_p.L158L|SCAF11_ENST00000549162.1_5'UTR	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	158					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TCACTGTATAAAGAGTTTCCT	0.333																																						ENST00000369367.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(472-474)Tta>Cta		SR-related CTD-associated factor 11							140.0	128.0	132.0					12																	46328280		1813	4070	5883	SO:0001819	synonymous_variant	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46328280A>G	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.472T>C	12.37:g.46328280A>G						SCAF11_ENST00000549162.1_5'UTR|SCAF11_ENST00000419565.2_Silent_p.L158L	p.L158L	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN			7	705	-			158					A6NEU9|A6NLW5|Q8IW59	Silent	SNP	ENST00000369367.3	37	c.472T>C	CCDS8748.2																																																																																				0.333	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		16	56	0	0	0	1	0	16	56				
TMEM42	131616	broad.mit.edu	37	3	44903590	44903590	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:44903590G>A	ENST00000302392.4	+	1	230	c.174G>A	c.(172-174)aaG>aaA	p.K58K	MIR564_ENST00000385049.1_RNA	NM_144638.1	NP_653239.1	Q69YG0	TMM42_HUMAN	transmembrane protein 42	58						integral component of membrane (GO:0016021)		p.K58K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)		CCTCCGCCAAGCTGGCCTTCG	0.776																																						ENST00000302392.4																			1	Substitution - coding silent(1)	p.K58K(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8						c.(172-174)aaG>aaA		transmembrane protein 42							4.0	6.0	5.0					3																	44903590		1965	4001	5966	SO:0001819	synonymous_variant	131616					integral to membrane		g.chr3:44903590G>A	AL834253	CCDS2722.1	3p21.31	2005-01-19			ENSG00000169964	ENSG00000169964			28444	protein-coding gene	gene with protein product						12477932	Standard	NM_144638		Approved	MGC29956	uc003cnz.3	Q69YG0	OTTHUMG00000133092	ENST00000302392.4:c.174G>A	3.37:g.44903590G>A							p.K58K	NM_144638.1	NP_653239.1	Q69YG0	TMM42_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)	1	230	+			58					Q8WUQ6	Silent	SNP	ENST00000302392.4	37	c.174G>A	CCDS2722.1																																																																																				0.776	TMEM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256750.2	NM_144638		3	8	0	0	0	1	0	3	8				
PKN3	29941	broad.mit.edu	37	9	131476394	131476394	+	Missense_Mutation	SNP	C	C	T	rs201340158		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:131476394C>T	ENST00000291906.4	+	10	1699	c.1306C>T	c.(1306-1308)Cgc>Tgc	p.R436C		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	436					epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CTTCTCTAAACGCAGAGGTGT	0.632																																						ENST00000291906.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1306-1308)Cgc>Tgc		protein kinase N3							82.0	88.0	86.0					9																	131476394		2203	4300	6503	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131476394C>T	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1306C>T	9.37:g.131476394C>T	ENSP00000291906:p.Arg436Cys						p.R436C	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN			10	1699	+			436					Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.1306C>T	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728046	0.69074	.	.	ENSG00000160447	ENST00000291906	T	0.31510	1.49	5.16	4.24	0.50183	.	.	.	.	.	T	0.34193	0.0889	L	0.50333	1.59	0.47037	D	0.999295	D	0.67145	0.996	P	0.47528	0.549	T	0.10847	-1.0612	9	0.51188	T	0.08	.	12.6962	0.57005	0.1659:0.834:0.0:0.0	.	436	Q6P5Z2	PKN3_HUMAN	C	436	ENSP00000291906:R436C	ENSP00000291906:R436C	R	+	1	0	PKN3	130516215	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.769000	0.38522	1.133000	0.42147	0.462000	0.41574	CGC		0.632	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		32	135	0	0	0	1	0	32	135				
SEPT6	23157	broad.mit.edu	37	X	118771104	118771104	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:118771104A>G	ENST00000343984.5	-	7	1106	c.842T>C	c.(841-843)gTc>gCc	p.V281A	SEPT6_ENST00000354228.4_Missense_Mutation_p.V281A|SEPT6_ENST00000354416.3_Missense_Mutation_p.V281A|SEPT6_ENST00000394616.4_Missense_Mutation_p.V223A|SEPT6_ENST00000394610.1_Missense_Mutation_p.V281A|SEPT6_ENST00000360156.7_Missense_Mutation_p.V281A|SEPT6_ENST00000489216.1_Missense_Mutation_p.V281A|SEPT6_ENST00000394617.2_Missense_Mutation_p.V311A	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	281	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CTCCATGTTGACCCGAATCAG	0.547			T	MLL	AML																																	ENST00000394610.1				Dom	yes		X	Xq24	23157	T	septin 6			L	MLL		AML		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						c.(841-843)gTc>gCc		septin 6							118.0	92.0	101.0					X																	118771104		2203	4300	6503	SO:0001583	missense	23157				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	g.chrX:118771104A>G	D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.842T>C	X.37:g.118771104A>G	ENSP00000341524:p.Val281Ala					SEPT6_ENST00000394617.2_Missense_Mutation_p.V311A|SEPT6_ENST00000360156.7_Missense_Mutation_p.V281A|SEPT6_ENST00000354228.4_Missense_Mutation_p.V281A|SEPT6_ENST00000354416.3_Missense_Mutation_p.V281A|SEPT6_ENST00000489216.1_Missense_Mutation_p.V281A|SEPT6_ENST00000343984.5_Missense_Mutation_p.V281A|SEPT6_ENST00000394616.4_Missense_Mutation_p.V223A	p.V281A	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN			7	1106	-			281					Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	ENST00000343984.5	37	c.842T>C	CCDS14584.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.753718	0.89753	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617	T;T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.29	5.29	0.74685	.	0.117118	0.56097	D	0.000023	D	0.88448	0.6439	M	0.73217	2.22	0.58432	D	0.999999	P;P;D;P	0.67145	0.49;0.767;0.996;0.566	B;P;D;P	0.85130	0.275;0.641;0.997;0.507	D	0.89641	0.3862	10	0.87932	D	0	.	13.4229	0.61009	1.0:0.0:0.0:0.0	.	311;223;281;281	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	A	281;281;281;281;281;281;223;311	ENSP00000353278:V281A;ENSP00000346169:V281A;ENSP00000418715:V281A;ENSP00000346397:V281A;ENSP00000378108:V281A;ENSP00000341524:V281A;ENSP00000378114:V223A;ENSP00000378115:V311A	ENSP00000341524:V281A	V	-	2	0	SEPT6	118655132	1.000000	0.71417	0.994000	0.49952	0.971000	0.66376	8.962000	0.93254	1.763000	0.52060	0.481000	0.45027	GTC		0.547	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802		28	45	0	0	0	1	0	28	45				
ENPP5	59084	broad.mit.edu	37	6	46135786	46135786	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:46135786T>C	ENST00000371383.2	-	3	474	c.214A>G	c.(214-216)Acc>Gcc	p.T72A	ENPP5_ENST00000492313.1_5'Flank|ENPP5_ENST00000230565.3_Missense_Mutation_p.T72A					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TTAGGGTAGGTTTTTGTAATA	0.348																																						ENST00000371383.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						c.(214-216)Acc>Gcc		ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)							55.0	53.0	54.0					6																	46135786		2203	4300	6503	SO:0001583	missense	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46135786T>C	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.214A>G	6.37:g.46135786T>C	ENSP00000360436:p.Thr72Ala					ENPP5_ENST00000230565.3_Missense_Mutation_p.T72A	p.T72A			Q9UJA9	ENPP5_HUMAN			3	474	-			72						Missense_Mutation	SNP	ENST00000371383.2	37	c.214A>G	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	T	19.48	3.835664	0.71373	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	D;D	0.87887	-2.31;-2.31	5.51	5.51	0.81932	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.95297	0.8474	H	0.97829	4.085	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96485	0.9359	10	0.87932	D	0	-8.9934	11.8574	0.52446	0.0:0.0703:0.0:0.9297	.	72;72	A8K9X7;Q9UJA9	.;ENPP5_HUMAN	A	72	ENSP00000360436:T72A;ENSP00000230565:T72A	ENSP00000230565:T72A	T	-	1	0	ENPP5	46243745	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.920000	0.70017	2.217000	0.71921	0.482000	0.46254	ACC		0.348	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			11	39	0	0	0	1	0	11	39				
TBC1D12	23232	broad.mit.edu	37	10	96291216	96291216	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:96291216A>G	ENST00000225235.4	+	12	2368	c.2258A>G	c.(2257-2259)cAg>cGg	p.Q753R	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	753							Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				AAATGGACTCAGGTAGAGTGA	0.323																																						ENST00000225235.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20						c.e12+1		TBC1 domain family, member 12							70.0	66.0	67.0					10																	96291216		1847	4081	5928	SO:0001630	splice_region_variant	23232					intracellular	Rab GTPase activator activity	g.chr10:96291216A>G	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.2259+1A>G	10.37:g.96291216A>G						TBC1D12_ENST00000485048.1_3'UTR	p.Q753_splice	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN			12	2368	+		Colorectal(252;0.0429)	753					Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Splice_Site	SNP	ENST00000225235.4	37	c.2259_splice	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.516904	0.85495	.	.	ENSG00000108239	ENST00000225235	T	0.05925	3.37	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.23649	0.0572	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.00283	-1.1849	10	0.46703	T	0.11	-11.1285	13.6447	0.62275	1.0:0.0:0.0:0.0	.	753	O60347	TBC12_HUMAN	R	753	ENSP00000225235:Q753R	ENSP00000225235:Q753R	Q	+	2	0	TBC1D12	96281206	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.090000	0.94144	2.320000	0.78422	0.528000	0.53228	CAG		0.323	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2		Missense_Mutation	31	102	0	0	0	1	0	31	102				
KRT23	25984	broad.mit.edu	37	17	39084610	39084610	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:39084610A>G	ENST00000209718.3	-	6	1225	c.801T>C	c.(799-801)tcT>tcC	p.S267S	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Silent_p.S130S	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	267	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				ACATGGCTGCAGACTGTGGGA	0.527																																						ENST00000209718.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(799-801)tcT>tcC		keratin 23 (histone deacetylase inducible)							149.0	124.0	133.0					17																	39084610		2203	4300	6503	SO:0001819	synonymous_variant	25984					intermediate filament	structural molecule activity	g.chr17:39084610A>G	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.801T>C	17.37:g.39084610A>G						KRT23_ENST00000436344.3_Silent_p.S130S|AC004231.2_ENST00000418393.1_RNA	p.S267S	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN			6	1225	-		Breast(137;0.000301)|Ovarian(249;0.15)	267			Coil 2.|Rod.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Silent	SNP	ENST00000209718.3	37	c.801T>C	CCDS11380.1																																																																																				0.527	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			38	120	0	0	0	1	0	38	120				
AHNAK2	113146	broad.mit.edu	37	14	105408303	105408303	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:105408303G>A	ENST00000333244.5	-	7	13604	c.13485C>T	c.(13483-13485)gcC>gcT	p.A4495A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4495						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCTCATGTCGGCCTCCATCT	0.587																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(13483-13485)gcC>gcT		AHNAK nucleoprotein 2							153.0	161.0	158.0					14																	105408303		2043	4186	6229	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105408303G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13485C>T	14.37:g.105408303G>A						AHNAK2_ENST00000557457.1_Intron	p.A4495A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13604	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4495					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.13485C>T	CCDS45177.1																																																																																				0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		61	218	0	0	0	1	0	61	218				
SPATA31D1	389763	broad.mit.edu	37	9	84606125	84606125	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:84606125T>C	ENST00000344803.2	+	4	787	c.740T>C	c.(739-741)cTt>cCt	p.L247P		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	247	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCCTTTCCCCTTCTCCCACCA	0.542																																						ENST00000344803.2																			0											c.(739-741)cTt>cCt		SPATA31 subfamily D, member 1							209.0	193.0	199.0					9																	84606125		1889	4108	5997	SO:0001583	missense	389763							g.chr9:84606125T>C		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.740T>C	9.37:g.84606125T>C	ENSP00000341988:p.Leu247Pro						p.L247P	NM_001001670.2	NP_001001670.1					4	787	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.740T>C	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	T	1.440	-0.567866	0.03910	.	.	ENSG00000214929	ENST00000344803	T	0.05382	3.45	3.13	0.0418	0.14214	.	1.454130	0.04512	N	0.383078	T	0.03305	0.0096	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43114	-0.9411	10	0.13470	T	0.59	-5.5294	3.5404	0.07809	0.0:0.5421:0.2175:0.2404	.	247	Q6ZQQ2	F75D1_HUMAN	P	247	ENSP00000341988:L247P	ENSP00000341988:L247P	L	+	2	0	FAM75D1	83795945	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.110000	0.10824	0.016000	0.14998	-0.451000	0.05528	CTT		0.542	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		89	298	0	0	0	1	0	89	298				
GGT7	2686	broad.mit.edu	37	20	33451197	33451197	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:33451197C>T	ENST00000336431.5	-	2	368	c.324G>A	c.(322-324)acG>acA	p.T108T		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	108					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TGACGATGACCGTGAGCCCAT	0.672																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(322-324)acG>acA		gamma-glutamyltransferase 7							41.0	35.0	37.0					20																	33451197		2203	4300	6503	SO:0001819	synonymous_variant	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33451197C>T	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.324G>A	20.37:g.33451197C>T							p.T108T	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			2	368	-			108					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	ENST00000336431.5	37	c.324G>A	CCDS13242.2																																																																																				0.672	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		13	36	0	0	0	1	0	13	36				
BRMS1	25855	broad.mit.edu	37	11	66107675	66107675	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:66107675T>A	ENST00000359957.3	-	7	705	c.545A>T	c.(544-546)gAt>gTt	p.D182V	BRMS1_ENST00000425825.2_Missense_Mutation_p.D182V|RP11-867G23.12_ENST00000526655.1_RNA	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	182					apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CAGTTTGTCATCCCACCATTC	0.597																																					GBM(7;55 307 2662 20856 28942)	ENST00000359957.3																			0				large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						c.(544-546)gAt>gTt		breast cancer metastasis suppressor 1							63.0	56.0	59.0					11																	66107675		2200	4295	6495	SO:0001583	missense	25855				apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding	g.chr11:66107675T>A	AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.545A>T	11.37:g.66107675T>A	ENSP00000353042:p.Asp182Val					BRMS1_ENST00000425825.2_Missense_Mutation_p.D182V	p.D182V	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN			7	705	-			182					Q6IAI2	Missense_Mutation	SNP	ENST00000359957.3	37	c.545A>T	CCDS8135.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210096	0.58343	.	.	ENSG00000174744	ENST00000425825;ENST00000359957;ENST00000530756	.	.	.	5.02	5.02	0.67125	.	0.111417	0.64402	D	0.000009	T	0.57036	0.2026	L	0.39898	1.24	0.80722	D	1	P;P	0.46327	0.605;0.876	B;P	0.49708	0.388;0.62	T	0.57219	-0.7849	9	0.41790	T	0.15	-32.2194	12.6675	0.56849	0.0:0.0:0.0:1.0	.	182;182	Q9HCU9;G5E9I4	BRMS1_HUMAN;.	V	182	.	ENSP00000353042:D182V	D	-	2	0	BRMS1	65864251	1.000000	0.71417	1.000000	0.80357	0.435000	0.31806	3.368000	0.52357	1.886000	0.54624	0.379000	0.24179	GAT		0.597	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392958.2	NM_015399		22	50	0	0	0	1	0	22	50				
CCNE2	9134	broad.mit.edu	37	8	95893861	95893861	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:95893861T>C	ENST00000520509.1	-	12	1466	c.1214A>G	c.(1213-1215)tAa>tGa	p.*405*	CCNE2_ENST00000308108.4_Silent_p.*405*|CCNE2_ENST00000396133.3_3'UTR|INTS8_ENST00000523731.1_3'UTR|RP11-347C18.5_ENST00000605911.1_RNA			O96020	CCNE2_HUMAN	cyclin E2	0					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TTATCTTCTTTAGTGTTTTCC	0.403																																						ENST00000520509.1																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11						c.(1213-1215)tAa>tGa		cyclin E2							267.0	251.0	256.0					8																	95893861		2203	4300	6503	SO:0001819	synonymous_variant	9134				cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	g.chr8:95893861T>C	AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.1214A>G	8.37:g.95893861T>C						CCNE2_ENST00000396133.3_3'UTR|INTS8_ENST00000523731.1_3'UTR|CCNE2_ENST00000308108.4_Silent_p.*405*	p.*405*			O96020	CCNE2_HUMAN			12	1466	-	Breast(36;8.75e-07)		0					O95439	Silent	SNP	ENST00000520509.1	37	c.1214A>G	CCDS6264.1																																																																																				0.403	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379808.1	NM_057749, NM_004702		26	146	0	0	0	1	0	26	146				
KRTAP13-1	140258	broad.mit.edu	37	21	31768625	31768625	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:31768625G>T	ENST00000355459.2	+	1	234	c.221G>T	c.(220-222)aGc>aTc	p.S74I		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	74	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTGGAGTCCAGCCCCTGCCAG	0.607																																						ENST00000355459.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(220-222)aGc>aTc		keratin associated protein 13-1							61.0	62.0	62.0					21																	31768625		2203	4300	6503	SO:0001583	missense	140258					intermediate filament		g.chr21:31768625G>T	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.221G>T	21.37:g.31768625G>T	ENSP00000347635:p.Ser74Ile						p.S74I	NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN			1	234	+			74			5 X 10 AA approximate repeats.		Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	c.221G>T	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	G	8.606	0.887880	0.17540	.	.	ENSG00000198390	ENST00000355459	T	0.03496	3.91	4.51	-0.482	0.12078	.	0.139488	0.31859	N	0.006944	T	0.03827	0.0108	M	0.67569	2.06	0.09310	N	1	B	0.26935	0.164	B	0.22880	0.042	T	0.34378	-0.9831	10	0.49607	T	0.09	.	1.9968	0.03458	0.2481:0.1345:0.4794:0.138	.	74	Q8IUC0	KR131_HUMAN	I	74	ENSP00000347635:S74I	ENSP00000347635:S74I	S	+	2	0	KRTAP13-1	30690496	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-0.539000	0.06113	-0.098000	0.12285	-0.259000	0.10710	AGC		0.607	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			17	92	1	0	5.01169e-05	1	5.10218e-05	17	92				
DOCK5	80005	broad.mit.edu	37	8	25198426	25198426	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:25198426T>C	ENST00000276440.7	+	23	2405	c.2361T>C	c.(2359-2361)ttT>ttC	p.F787F		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	787					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GAGATGAGTTTAATAATTCAA	0.383																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2359-2361)ttT>ttC		dedicator of cytokinesis 5							99.0	96.0	97.0					8																	25198426		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25198426T>C		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2361T>C	8.37:g.25198426T>C							p.F787F	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	23	2405	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	787					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.2361T>C	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	T	4.964	0.179152	0.09443	.	.	ENSG00000147459	ENST00000444569	.	.	.	4.99	2.63	0.31362	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2072	0.31463	0.0:0.3738:0.0:0.6262	.	.	.	.	Q	559	.	.	X	+	1	0	DOCK5	25254343	1.000000	0.71417	0.989000	0.46669	0.448000	0.32197	1.096000	0.30976	0.396000	0.25283	0.528000	0.53228	TAA		0.383	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		12	36	0	0	0	1	0	12	36				
FAM178A	55719	broad.mit.edu	37	10	102672977	102672977	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:102672977C>T	ENST00000238961.4	+	1	652	c.110C>T	c.(109-111)gCg>gTg	p.A37V	FAM178A_ENST00000370271.3_Missense_Mutation_p.A37V|FAM178A_ENST00000370269.3_Missense_Mutation_p.A37V|RP11-179B2.2_ENST00000608554.1_RNA|FAM178A_ENST00000609386.1_Missense_Mutation_p.A37V	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	37						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											CATGCTGCAGCGGGAAAGAGA	0.687																																						ENST00000238961.3																			0											c.(109-111)gCg>gTg		family with sequence similarity 178, member A							22.0	24.0	24.0					10																	102672977		2200	4300	6500	SO:0001583	missense	55719							g.chr10:102672977C>T	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.110C>T	10.37:g.102672977C>T	ENSP00000238961:p.Ala37Val					FAM178A_ENST00000370269.3_Missense_Mutation_p.A37V|FAM178A_ENST00000370271.3_Missense_Mutation_p.A37V	p.A37V	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			1	258	+			37					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.110C>T	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	C	35	5.514013	0.96402	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.58060	0.36;1.03;1.01	5.25	5.25	0.73442	.	0.000000	0.53938	D	0.000041	T	0.59128	0.2171	N	0.24115	0.695	0.34808	D	0.737402	P;P;D	0.89917	0.89;0.935;1.0	B;B;D	0.80764	0.444;0.444;0.994	T	0.68413	-0.5415	10	0.66056	D	0.02	-3.2443	14.5237	0.67873	0.0:1.0:0.0:0.0	.	37;37;37	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	V	37	ENSP00000359294:A37V;ENSP00000238961:A37V;ENSP00000359292:A37V	ENSP00000238961:A37V	A	+	2	0	FAM178A	102662967	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.254000	0.51477	2.890000	0.99128	0.585000	0.79938	GCG		0.687	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			5	21	0	0	0	1	0	5	21				
DNAH2	146754	broad.mit.edu	37	17	7702465	7702465	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:7702465T>C	ENST00000572933.1	+	56	10064	c.8604T>C	c.(8602-8604)ccT>ccC	p.P2868P	DNAH2_ENST00000389173.2_Silent_p.P2868P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2868	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(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCAGGTGCCTGAGTCATCGG	0.602																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(8602-8604)ccT>ccC		dynein, axonemal, heavy chain 2							110.0	85.0	93.0					17																	7702465		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7702465T>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.8604T>C	17.37:g.7702465T>C						DNAH2_ENST00000389173.2_Silent_p.P2868P	p.P2868P			Q9P225	DYH2_HUMAN			56	10064	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2868			AAA 4 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.8604T>C	CCDS32551.1																																																																																				0.602	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		18	65	0	0	0	1	0	18	65				
WDFY3	23001	broad.mit.edu	37	4	85617976	85617976	+	Splice_Site	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:85617976C>T	ENST00000295888.4	-	57	9004	c.8597G>A	c.(8596-8598)gGc>gAc	p.G2866D	WDFY3_ENST00000322366.6_Splice_Site_p.G2849D	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2866	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGTTTACAGCCTATGCAATT	0.378																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.e56-1		WD repeat and FYVE domain containing 3							96.0	91.0	93.0					4																	85617976		2203	4300	6503	SO:0001630	splice_region_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85617976C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8597-1G>A	4.37:g.85617976C>T						WDFY3_ENST00000295888.4_Splice_Site_p.G2866_splice	p.G2849_splice			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	56	8953	-		Hepatocellular(203;0.114)	2866			BEACH.		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Splice_Site	SNP	ENST00000295888.4	37	c.8545_splice	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434453	0.83776	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.77489	-1.1;-1.1;-1.1	5.1	5.1	0.69264	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.93171	0.7825	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95937	0.8943	10	0.87932	D	0	.	18.5077	0.90904	0.0:1.0:0.0:0.0	.	2866	Q8IZQ1	WDFY3_HUMAN	D	2849;2866;469	ENSP00000318466:G2849D;ENSP00000295888:G2866D;ENSP00000424987:G469D	ENSP00000295888:G2866D	G	-	2	0	WDFY3	85837000	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	7.142000	0.77339	2.368000	0.80403	0.591000	0.81541	GGC		0.378	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	Missense_Mutation	10	42	0	0	0	1	0	10	42				
SPHK2	56848	broad.mit.edu	37	19	49132517	49132517	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:49132517A>G	ENST00000245222.4	+	7	1818	c.1452A>G	c.(1450-1452)tcA>tcG	p.S484S	SPHK2_ENST00000600537.1_Silent_p.S425S|SPHK2_ENST00000598088.1_Silent_p.S484S|SPHK2_ENST00000599748.1_Silent_p.S448S|SPHK2_ENST00000340932.3_Silent_p.S446S|SPHK2_ENST00000599029.1_Silent_p.S448S|SPHK2_ENST00000443164.1_Silent_p.S546S	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	484					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CTCTACACTCACCCGTCTCCG	0.697																																						ENST00000443164.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(1636-1638)tcA>tcG		sphingosine kinase 2							56.0	72.0	67.0					19																	49132517		2203	4300	6503	SO:0001819	synonymous_variant	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132517A>G	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1452A>G	19.37:g.49132517A>G						SPHK2_ENST00000245222.4_Silent_p.S484S|SPHK2_ENST00000598088.1_Silent_p.S484S|SPHK2_ENST00000600537.1_Silent_p.S425S|SPHK2_ENST00000340932.3_Silent_p.S446S|SPHK2_ENST00000599029.1_Silent_p.S448S|SPHK2_ENST00000599748.1_Silent_p.S448S	p.S546S			Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	5	2343	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	484					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	c.1638A>G	CCDS12727.1																																																																																				0.697	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			49	167	0	0	0	1	0	49	167				
MSLNL	401827	broad.mit.edu	37	16	830419	830419	+	Intron	SNP	G	G	T	rs113763422	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:830419G>T	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Missense_Mutation_p.H194Q			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GCACGTGTAAGTGACAGTGTG	0.592																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(580-582)caC>caA		mesothelin-like							197.0	174.0	182.0					16																	830419		2178	4272	6450	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830419G>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-257C>A	16.37:g.830419G>T						MSLNL_ENST00000442466.1_Intron	p.H194Q			Q96KJ4	MSLNL_HUMAN			3	581	-			0						Missense_Mutation	SNP	ENST00000442466.1	37	c.582C>A		.	.	.	.	.	.	.	.	.	.	G	11.73	1.724572	0.30593	.	.	ENSG00000162006	ENST00000293892	T	0.16457	2.34	1.33	-2.65	0.06095	.	.	.	.	.	T	0.08133	0.0203	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34900	-0.9810	5	.	.	.	.	0.5052	0.00586	0.168:0.2355:0.2309:0.3656	.	.	.	.	Q	194	ENSP00000293892:H194Q	.	H	-	3	2	MSLNL	770420	0.235000	0.23794	0.000000	0.03702	0.003000	0.03518	-0.038000	0.12144	-1.035000	0.03291	0.411000	0.27672	CAC		0.592	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		6	159	1	0	3.59834e-05	1	3.66827e-05	6	159				
LMNB2	84823	broad.mit.edu	37	19	2435009	2435009	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:2435009T>C	ENST00000582871.1	-	5	871	c.785A>G	c.(784-786)tAc>tGc	p.Y262C	LMNB2_ENST00000325327.3_Missense_Mutation_p.Y282C	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	262	Coil 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGGCCTGGTAGGTCTGCTC	0.716																																						ENST00000325327.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(844-846)tAc>tGc		lamin B2							24.0	26.0	25.0					19																	2435009		2198	4299	6497	SO:0001583	missense	84823					nuclear inner membrane	structural molecule activity	g.chr19:2435009T>C	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.785A>G	19.37:g.2435009T>C	ENSP00000462730:p.Tyr262Cys					LMNB2_ENST00000582871.1_Missense_Mutation_p.Y262C	p.Y282C			Q03252	LMNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	907	-		Hepatocellular(1079;0.137)	262			Coil 2.|Rod.		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37	c.845A>G		.	.	.	.	.	.	.	.	.	.	T	19.31	3.803114	0.70682	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.83	4.83	0.62350	Filament (1);	0.123853	0.56097	D	0.000030	D	0.85191	0.5640	M	0.93462	3.42	0.53688	D	0.999977	D	0.76494	0.999	D	0.73708	0.981	D	0.88963	0.3395	9	0.87932	D	0	.	13.2379	0.59979	0.0:0.0:0.0:1.0	.	262	Q03252	LMNB2_HUMAN	C	262	.	ENSP00000327054:Y262C	Y	-	2	0	LMNB2	2386009	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.974000	0.40559	1.807000	0.52817	0.459000	0.35465	TAC		0.716	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		18	51	0	0	0	1	0	18	51				
PBX4	80714	broad.mit.edu	37	19	19681579	19681579	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:19681579T>C	ENST00000251203.9	-	3	543	c.257A>G	c.(256-258)aAc>aGc	p.N86S		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	86					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CAGCAGCATGTTATCCAGCCT	0.577																																						ENST00000251203.8																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.(256-258)aAc>aGc		pre-B-cell leukemia homeobox 4							64.0	64.0	64.0					19																	19681579		2203	4300	6503	SO:0001583	missense	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19681579T>C	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.257A>G	19.37:g.19681579T>C	ENSP00000251203:p.Asn86Ser						p.N86S	NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN			3	543	-			86					A5D8Y0|B3KUK9	Missense_Mutation	SNP	ENST00000251203.9	37	c.257A>G	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.594833	0.66219	.	.	ENSG00000105717	ENST00000251203	T	0.30981	1.51	3.34	2.32	0.28847	PBX (1);	0.109447	0.64402	D	0.000009	T	0.46268	0.1384	M	0.78456	2.415	0.58432	D	0.999998	D	0.61697	0.99	P	0.59595	0.86	T	0.39313	-0.9620	10	0.72032	D	0.01	-40.5953	6.4152	0.21712	0.0:0.1245:0.0:0.8755	.	86	Q9BYU1	PBX4_HUMAN	S	86	ENSP00000251203:N86S	ENSP00000251203:N86S	N	-	2	0	PBX4	19542579	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	3.283000	0.51701	0.394000	0.25230	0.329000	0.21502	AAC		0.577	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			4	94	0	0	0	1	0	4	94				
XKR3	150165	broad.mit.edu	37	22	17265161	17265161	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:17265161A>G	ENST00000331428.5	-	4	830	c.728T>C	c.(727-729)tTt>tCt	p.F243S		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AACCTCCAAAAAACGCCACAT	0.423																																						ENST00000331428.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(727-729)tTt>tCt		XK, Kell blood group complex subunit-related family, member 3							25.0	26.0	26.0					22																	17265161		1504	3530	5034	SO:0001583	missense	150165					integral to membrane|plasma membrane		g.chr22:17265161A>G	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.728T>C	22.37:g.17265161A>G	ENSP00000331704:p.Phe243Ser						p.F243S	NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN			4	830	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	243					B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	c.728T>C	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	0.014	-1.603055	0.00849	.	.	ENSG00000172967	ENST00000331428	T	0.62788	-0.0	0.771	-1.54	0.08584	.	0.654429	0.13769	N	0.364019	T	0.22003	0.0530	N	0.00729	-1.24	0.19300	N	0.999974	B	0.13145	0.007	B	0.08055	0.003	T	0.18335	-1.0340	10	0.25106	T	0.35	.	3.5739	0.07927	0.2634:0.5022:0.2344:0.0	.	243	Q5GH77	XKR3_HUMAN	S	243	ENSP00000331704:F243S	ENSP00000331704:F243S	F	-	2	0	XKR3	15645161	0.811000	0.29063	0.033000	0.17914	0.013000	0.08279	2.375000	0.44283	-0.923000	0.03785	0.246000	0.17985	TTT		0.423	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		9	50	0	0	0	1	0	9	50				
KRT82	3888	broad.mit.edu	37	12	52794339	52794339	+	Missense_Mutation	SNP	A	A	T	rs200135662		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52794339A>T	ENST00000257974.2	-	4	826	c.749T>A	c.(748-750)aTc>aAc	p.I250N	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	250	Coil 1B.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CAGGAAGTCGATCTCCTGCAC	0.597																																						ENST00000257974.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(748-750)aTc>aAc		keratin 82							141.0	119.0	127.0					12																	52794339		2203	4300	6503	SO:0001583	missense	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52794339A>T	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.749T>A	12.37:g.52794339A>T	ENSP00000257974:p.Ile250Asn					RP3-416H24.4_ENST00000547174.1_RNA	p.I250N	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	4	826	-			250			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000257974.2	37	c.749T>A	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.542613	0.65198	.	.	ENSG00000161850	ENST00000257974	D	0.90676	-2.71	5.03	3.85	0.44370	Filament (1);	0.000000	0.50627	D	0.000105	D	0.92734	0.7690	H	0.97291	3.975	0.34709	D	0.727514	B	0.17852	0.024	B	0.20955	0.032	D	0.91475	0.5200	10	0.87932	D	0	.	5.4872	0.16757	0.7648:0.0:0.0816:0.1536	.	250	Q9NSB4	KRT82_HUMAN	N	250	ENSP00000257974:I250N	ENSP00000257974:I250N	I	-	2	0	KRT82	51080606	0.985000	0.35326	0.982000	0.44146	0.741000	0.42261	3.258000	0.51507	0.843000	0.35070	0.379000	0.24179	ATC		0.597	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		31	98	0	0	0	1	0	31	98				
RPP25L	138716	broad.mit.edu	37	9	34611111	34611111	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:34611111G>A	ENST00000297613.4	-	2	463	c.183C>T	c.(181-183)ggC>ggT	p.G61G	RPP25L_ENST00000378959.4_Silent_p.G61G|DCTN3_ENST00000479399.1_5'Flank	NM_148179.2	NP_680545.1	Q8N5L8	RP25L_HUMAN	ribonuclease P/MRP 25kDa subunit-like	61						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CTGCAGCCCTGCCAGAACCTG	0.607																																						ENST00000297613.4																			0											c.(181-183)ggC>ggT		ribonuclease P/MRP 25kDa subunit-like							64.0	64.0	64.0					9																	34611111		2203	4300	6503	SO:0001819	synonymous_variant	138716						nucleic acid binding	g.chr9:34611111G>A	BC032136	CCDS6559.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164967	ENSG00000164967			19909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 23"""	C9orf23		16998185	Standard	NM_148178		Approved	bA296L22.5, MGC29635	uc003zuv.3	Q8N5L8	OTTHUMG00000000443	ENST00000297613.4:c.183C>T	9.37:g.34611111G>A						RPP25L_ENST00000378959.4_Silent_p.G61G	p.G61G	NM_148179.2	NP_680545.1	Q8N5L8	CI023_HUMAN			2	463	-			61					D3DRM5	Silent	SNP	ENST00000297613.4	37	c.183C>T	CCDS6559.1																																																																																				0.607	RPP25L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001130.1	NM_148179		4	102	0	0	0	1	0	4	102				
HERC2	8924	broad.mit.edu	37	15	28391388	28391388	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:28391388C>T	ENST00000261609.7	-	71	11111	c.11003G>A	c.(11002-11004)cGg>cAg	p.R3668Q		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTACCTGACCGCACGGAGAC	0.557																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(11002-11004)cGg>cAg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							141.0	92.0	109.0					15																	28391388		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28391388C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11003G>A	15.37:g.28391388C>T	ENSP00000261609:p.Arg3668Gln						p.R3668Q	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	71	11111	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3668						Missense_Mutation	SNP	ENST00000261609.7	37	c.11003G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	36	5.958751	0.97145	.	.	ENSG00000128731	ENST00000261609	T	0.39229	1.09	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.65606	0.2707	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.66497	0.944	T	0.68172	-0.5479	10	0.66056	D	0.02	.	19.4151	0.94690	0.0:1.0:0.0:0.0	.	3668	O95714	HERC2_HUMAN	Q	3668	ENSP00000261609:R3668Q	ENSP00000261609:R3668Q	R	-	2	0	HERC2	26064983	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.818000	0.86416	2.601000	0.87937	0.644000	0.83932	CGG		0.557	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		19	65	0	0	0	1	0	19	65				
MTRF1L	54516	broad.mit.edu	37	6	153323624	153323624	+	Missense_Mutation	SNP	G	G	A	rs150895723		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:153323624G>A	ENST00000367233.5	-	1	196	c.197C>T	c.(196-198)gCg>gTg	p.A66V	MTRF1L_ENST00000367231.5_Missense_Mutation_p.A66V|MTRF1L_ENST00000367230.1_Missense_Mutation_p.A66V|MTRF1L_ENST00000464135.1_5'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	66						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TTTGATCACCGCCAGCAACTC	0.657																																						ENST00000367233.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(196-198)gCg>gTg		mitochondrial translational release factor 1-like		G	VAL/ALA,VAL/ALA	0,4404		0,0,2202	22.0	24.0	23.0		197,197	0.6	0.0	6	dbSNP_134	23	1,8599		0,1,4299	no	missense,missense	MTRF1L	NM_001114184.1,NM_019041.5	64,64	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	66/272,66/381	153323624	1,13003	2202	4300	6502	SO:0001583	missense	54516					mitochondrion	translation release factor activity, codon specific	g.chr6:153323624G>A	BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.197C>T	6.37:g.153323624G>A	ENSP00000356202:p.Ala66Val					MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367230.1_Missense_Mutation_p.A66V|MTRF1L_ENST00000367231.5_Missense_Mutation_p.A66V	p.A66V	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)	1	196	-		Ovarian(120;0.125)	66					B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Missense_Mutation	SNP	ENST00000367233.5	37	c.197C>T	CCDS5243.1	.	.	.	.	.	.	.	.	.	.	G	9.755	1.168581	0.21621	0.0	1.16E-4	ENSG00000112031	ENST00000367233;ENST00000367231;ENST00000367230	T;T;T	0.11821	2.74;2.74;2.74	4.9	0.606	0.17559	.	0.827030	0.10978	N	0.612988	T	0.03095	0.0091	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.13145	0.004;0.007;0.007;0.004	B;B;B;B	0.12156	0.002;0.007;0.007;0.003	T	0.43196	-0.9406	10	0.59425	D	0.04	-3.7096	4.7321	0.12970	0.1828:0.0:0.5185:0.2986	.	66;66;66;66	B4DMX1;Q9UGC7-2;Q9UGC7-4;Q9UGC7	.;.;.;RF1ML_HUMAN	V	66	ENSP00000356202:A66V;ENSP00000356200:A66V;ENSP00000356199:A66V	ENSP00000356199:A66V	A	-	2	0	MTRF1L	153365317	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.805000	0.27112	0.220000	0.20860	0.655000	0.94253	GCG		0.657	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042764.1	NM_019041		12	30	0	0	0	1	0	12	30				
GPR133	283383	broad.mit.edu	37	12	131593276	131593276	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:131593276G>A	ENST00000261654.5	+	18	2454	c.1895G>A	c.(1894-1896)tGc>tAc	p.C632Y	GPR133_ENST00000543617.1_Missense_Mutation_p.C151Y|GPR133_ENST00000376682.4_Missense_Mutation_p.C318Y|GPR133_ENST00000535015.1_Missense_Mutation_p.C664Y	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	632					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TAGACCCCCTGCCAAGTGATG	0.572																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1894-1896)tGc>tAc		G protein-coupled receptor 133							209.0	195.0	200.0					12																	131593276		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131593276G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1895G>A	12.37:g.131593276G>A	ENSP00000261654:p.Cys632Tyr					GPR133_ENST00000376682.4_Missense_Mutation_p.C318Y|GPR133_ENST00000535015.1_Missense_Mutation_p.C664Y|GPR133_ENST00000543617.1_Missense_Mutation_p.C151Y	p.C632Y	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	18	2454	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		632					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1895G>A	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799034	0.50208	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	4.65	4.65	0.58169	GPCR, family 2-like (1);	0.051939	0.85682	D	0.000000	D	0.94371	0.8190	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96567	0.9420	10	0.87932	D	0	.	16.5107	0.84284	0.0:0.0:1.0:0.0	.	664;151;632	B7ZLF7;Q6QNK2-3;Q6QNK2	.;.;GP133_HUMAN	Y	632;664;318;151	ENSP00000261654:C632Y;ENSP00000444425:C664Y;ENSP00000365872:C318Y;ENSP00000438021:C151Y	ENSP00000261654:C632Y	C	+	2	0	GPR133	130159229	1.000000	0.71417	0.530000	0.27963	0.033000	0.12548	8.929000	0.92859	2.123000	0.65237	0.467000	0.42956	TGC		0.572	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		148	266	0	0	0	1	0	148	266				
LRBA	987	broad.mit.edu	37	4	151770123	151770123	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:151770123G>C	ENST00000357115.3	-	26	4429	c.4186C>G	c.(4186-4188)Caa>Gaa	p.Q1396E	LRBA_ENST00000535741.1_Missense_Mutation_p.Q1396E|LRBA_ENST00000507224.1_Missense_Mutation_p.Q1396E|LRBA_ENST00000510413.1_Missense_Mutation_p.Q1396E	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1396						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GAAAGGCCTTGAGTAGGTTCA	0.313																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(4186-4188)Caa>Gaa		LPS-responsive vesicle trafficking, beach and anchor containing							76.0	79.0	78.0					4																	151770123		2202	4299	6501	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151770123G>C	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4186C>G	4.37:g.151770123G>C	ENSP00000349629:p.Gln1396Glu					LRBA_ENST00000357115.3_Missense_Mutation_p.Q1396E|LRBA_ENST00000510413.1_Missense_Mutation_p.Q1396E|LRBA_ENST00000507224.1_Missense_Mutation_p.Q1396E	p.Q1396E			P50851	LRBA_HUMAN			26	4659	-	all_hematologic(180;0.151)		1396					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.4186C>G	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861970	0.91433	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.62105	0.49;0.64;0.49;0.05	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.81927	0.4926	M	0.83483	2.645	0.80722	D	1	D;D	0.61697	0.982;0.99	D;D	0.72982	0.952;0.979	T	0.82216	-0.0567	10	0.56958	D	0.05	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	1396;1396	P50851;P50851-2	LRBA_HUMAN;.	E	1396	ENSP00000446299:Q1396E;ENSP00000421552:Q1396E;ENSP00000349629:Q1396E;ENSP00000422180:Q1396E	ENSP00000349629:Q1396E	Q	-	1	0	LRBA	151989573	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.600000	0.74132	2.813000	0.96785	0.655000	0.94253	CAA		0.313	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			42	111	0	0	0	1	0	42	111				
TBC1D31	93594	broad.mit.edu	37	8	124156981	124156981	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:124156981T>C	ENST00000287380.1	+	20	2950	c.2860T>C	c.(2860-2862)Ttc>Ctc	p.F954L	TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000521676.1_Missense_Mutation_p.F831L|TBC1D31_ENST00000518805.1_Missense_Mutation_p.F508L|TBC1D31_ENST00000309336.3_Missense_Mutation_p.F889L|TBC1D31_ENST00000522420.1_Missense_Mutation_p.F849L|TBC1D31_ENST00000327098.5_Missense_Mutation_p.F858L	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	954						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										AGGAAAAGAGTTCCGTTTGAG	0.353																																						ENST00000287380.1																			0											c.(2860-2862)Ttc>Ctc		TBC1 domain family, member 31							68.0	70.0	69.0					8																	124156981		2203	4300	6503	SO:0001583	missense	93594							g.chr8:124156981T>C	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2860T>C	8.37:g.124156981T>C	ENSP00000287380:p.Phe954Leu					TBC1D31_ENST00000309336.3_Missense_Mutation_p.F889L|TBC1D31_ENST00000521676.1_Missense_Mutation_p.F831L|TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000518805.1_Missense_Mutation_p.F508L|TBC1D31_ENST00000327098.5_Missense_Mutation_p.F858L|TBC1D31_ENST00000522420.1_Missense_Mutation_p.F849L	p.F954L	NM_145647.3	NP_663622.2					20	2950	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.2860T>C	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	T	0.092	-1.166114	0.01673	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000518805	D;T;T;D;D;D	0.84516	-1.86;-0.12;-0.14;-1.86;-1.86;-1.86	5.13	3.98	0.46160	.	0.508979	0.20864	N	0.084294	T	0.72078	0.3416	L	0.27053	0.805	0.41172	D	0.986172	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.08055	0.0;0.003;0.001;0.001	T	0.61123	-0.7126	10	0.11485	T	0.65	-3.9793	7.949	0.30003	0.0:0.0947:0.0:0.9053	.	858;889;849;954	B7ZL19;Q96DN5-2;E7ERK7;Q96DN5	.;.;.;WDR67_HUMAN	L	954;889;858;849;831;508	ENSP00000287380:F954L;ENSP00000308358:F889L;ENSP00000312701:F858L;ENSP00000429334:F849L;ENSP00000430628:F831L;ENSP00000429494:F508L	ENSP00000287380:F954L	F	+	1	0	WDR67	124226162	0.045000	0.20229	0.044000	0.18714	0.003000	0.03518	0.550000	0.23345	1.058000	0.40530	0.482000	0.46254	TTC		0.353	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		9	48	0	0	0	1	0	9	48				
MORC3	23515	broad.mit.edu	37	21	37742095	37742095	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:37742095A>G	ENST00000400485.1	+	15	2505	c.2429A>G	c.(2428-2430)gAt>gGt	p.D810G	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	810					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AGTGAAATGGATGAGATGGCT	0.393																																						ENST00000400485.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(2428-2430)gAt>gGt		MORC family CW-type zinc finger 3							136.0	128.0	130.0					21																	37742095		2017	4188	6205	SO:0001583	missense	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37742095A>G	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2429A>G	21.37:g.37742095A>G	ENSP00000383333:p.Asp810Gly					MORC3_ENST00000487909.1_3'UTR	p.D810G	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			15	2505	+			810					A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.2429A>G	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.261948	0.80358	.	.	ENSG00000159256	ENST00000400485	T	0.26223	1.75	5.56	5.56	0.83823	.	0.106430	0.64402	D	0.000010	T	0.49047	0.1534	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.39742	-0.9599	10	0.32370	T	0.25	-24.6414	15.7095	0.77615	1.0:0.0:0.0:0.0	.	810	Q14149	MORC3_HUMAN	G	810	ENSP00000383333:D810G	ENSP00000383333:D810G	D	+	2	0	MORC3	36663965	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	7.390000	0.79816	2.101000	0.63845	0.533000	0.62120	GAT		0.393	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		63	139	0	0	0	1	0	63	139				
FAM63B	54629	broad.mit.edu	37	15	59102491	59102491	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:59102491A>T	ENST00000559228.1	+	4	1108	c.1026A>T	c.(1024-1026)agA>agT	p.R342S	FAM63B_ENST00000450403.2_Missense_Mutation_p.R342S			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	342										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TAAATGTAAGATTCACTGGTG	0.378																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1024-1026)agA>agT		family with sequence similarity 63, member B							181.0	174.0	176.0					15																	59102491		1847	4104	5951	SO:0001583	missense	54629							g.chr15:59102491A>T	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1026A>T	15.37:g.59102491A>T	ENSP00000452885:p.Arg342Ser					FAM63B_ENST00000450403.2_Missense_Mutation_p.R342S	p.R342S			Q8NBR6	FA63B_HUMAN			4	1108	+			342					B2RTT8|Q9ULQ6	Missense_Mutation	SNP	ENST00000559228.1	37	c.1026A>T	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	A	17.96	3.516735	0.64634	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.51325	0.71	5.58	2.05	0.26809	.	0.093745	0.64402	D	0.000001	T	0.44912	0.1316	M	0.65975	2.015	0.35548	D	0.803664	B;B	0.32893	0.389;0.337	B;B	0.36766	0.232;0.209	T	0.49303	-0.8954	10	0.41790	T	0.15	-27.5758	8.62	0.33855	0.6178:0.0:0.3822:0.0	.	342;342	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	S	342	ENSP00000393231:R342S	ENSP00000326194:R342S	R	+	3	2	FAM63B	56889783	1.000000	0.71417	0.974000	0.42286	0.995000	0.86356	1.375000	0.34295	0.093000	0.17368	0.482000	0.46254	AGA		0.378	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		26	77	0	0	0	1	0	26	77				
AP2B1	163	broad.mit.edu	37	17	33954513	33954513	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:33954513A>G	ENST00000262325.7	+	8	1601	c.1048A>G	c.(1048-1050)Aac>Gac	p.N350D	AP2B1_ENST00000312678.8_Missense_Mutation_p.N350D|AP2B1_ENST00000538556.1_Missense_Mutation_p.N293D|AP2B1_ENST00000537622.2_Missense_Mutation_p.N350D|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Missense_Mutation_p.N312D|AP2B1_ENST00000589344.1_Missense_Mutation_p.N350D	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	350					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ATCTCAAGCCAACATTGCTCA	0.398																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1048-1050)Aac>Gac		adaptor-related protein complex 2, beta 1 subunit							113.0	105.0	108.0					17																	33954513		2203	4300	6503	SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33954513A>G	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1048A>G	17.37:g.33954513A>G	ENSP00000262325:p.Asn350Asp					AP2B1_ENST00000592545.1_Missense_Mutation_p.N312D|AP2B1_ENST00000538556.1_Missense_Mutation_p.N293D|AP2B1_ENST00000537622.2_Missense_Mutation_p.N350D|AP2B1_ENST00000312678.8_Missense_Mutation_p.N350D|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Missense_Mutation_p.N350D	p.N350D	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	8	1601	+		Ovarian(249;0.17)	350					A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.1048A>G	CCDS32622.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230071	0.58777	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.23	5.23	0.72850	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	H	0.96111	3.77	0.80722	D	1	B;B;B;B	0.34290	0.159;0.411;0.447;0.392	B;B;P;B	0.45856	0.051;0.394;0.495;0.362	T	0.80712	-0.1260	10	0.66056	D	0.02	1.6388	14.438	0.67296	1.0:0.0:0.0:0.0	.	87;312;350;350	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	D	350;350;293;350;87	ENSP00000262325:N350D;ENSP00000314414:N350D;ENSP00000440563:N293D;ENSP00000437413:N350D	ENSP00000262325:N350D	N	+	1	0	AP2B1	30978626	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.120000	0.94369	2.192000	0.70111	0.528000	0.53228	AAC		0.398	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			14	41	0	0	0	1	0	14	41				
PTCD1	26024	broad.mit.edu	37	7	99023101	99023101	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:99023101T>C	ENST00000292478.4	-	6	1304	c.1054A>G	c.(1054-1056)Act>Gct	p.T352A	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.T401A|PTCD1_ENST00000555673.1_Missense_Mutation_p.T401A	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	352					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TGAAGCACAGTCGCCTCCTCC	0.657																																						ENST00000292478.4																			0				endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(1054-1056)Act>Gct		pentatricopeptide repeat domain 1							45.0	45.0	45.0					7																	99023101		2203	4300	6503	SO:0001583	missense	26024							g.chr7:99023101T>C	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1054A>G	7.37:g.99023101T>C	ENSP00000292478:p.Thr352Ala					ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.T401A|PTCD1_ENST00000555673.1_Missense_Mutation_p.T401A	p.T352A	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		6	1304	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)							Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	c.1054A>G	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.354112	0.00217	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	T;T;T	0.63096	-0.02;-0.02;-0.02	5.84	3.02	0.34903	.	0.978140	0.08406	N	0.950625	T	0.29945	0.0749	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29731	-1.0002	10	0.02654	T	1	-7.1559	5.4625	0.16624	0.0:0.5364:0.1462:0.3174	.	401;352	G3V325;O75127	.;PTCD1_HUMAN	A	352;134;401;401	ENSP00000292478:T352A;ENSP00000450995:T401A;ENSP00000400168:T401A	ENSP00000400168:T401A	T	-	1	0	ATP5J2-PTCD1;PTCD1	98861037	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.247000	0.08866	0.358000	0.24211	-0.366000	0.07423	ACT		0.657	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		14	53	0	0	0	1	0	14	53				
SNCAIP	9627	broad.mit.edu	37	5	121759250	121759250	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:121759250A>G	ENST00000261368.8	+	4	1080	c.818A>G	c.(817-819)aAg>aGg	p.K273R	SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.K320R|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.K320R|SNCAIP_ENST00000261367.7_Missense_Mutation_p.K320R|SNCAIP_ENST00000379536.2_Missense_Mutation_p.K273R	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	273					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AAAGTTGAGAAGACAACACCA	0.493																																						ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(958-960)aAg>aGg		synuclein, alpha interacting protein							68.0	72.0	70.0					5																	121759250		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121759250A>G	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.818A>G	5.37:g.121759250A>G	ENSP00000261368:p.Lys273Arg					SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.K320R|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.K273R|SNCAIP_ENST00000379536.2_Missense_Mutation_p.K273R|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.K320R	p.K320R			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	6	2387	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	273					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.959A>G	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.757634	0.69648	.	.	ENSG00000064692	ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116	T;T;T;T;T;T	0.13657	4.87;2.6;2.57;4.87;2.57;4.35	6.02	6.02	0.97574	.	0.313591	0.38837	N	0.001541	T	0.26304	0.0642	L	0.29908	0.895	0.80722	D	1	D;D;D;P	0.61697	0.962;0.968;0.99;0.657	B;P;D;B	0.72982	0.416;0.763;0.979;0.197	T	0.01488	-1.1342	9	.	.	.	-27.5877	16.5446	0.84426	1.0:0.0:0.0:0.0	.	273;320;320;273	D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	R	273;273;320;273;320;320	ENSP00000422106:K273R;ENSP00000261368:K273R;ENSP00000368848:K320R;ENSP00000368851:K273R;ENSP00000261367:K320R;ENSP00000423199:K320R	.	K	+	2	0	SNCAIP	121787149	1.000000	0.71417	0.994000	0.49952	0.474000	0.32979	4.284000	0.58983	2.311000	0.77944	0.533000	0.62120	AAG		0.493	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			17	46	0	0	0	1	0	17	46				
REV3L	5980	broad.mit.edu	37	6	111631164	111631164	+	Silent	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:111631164C>G	ENST00000358835.3	-	31	9388	c.8934G>C	c.(8932-8934)ctG>ctC	p.L2978L	RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000368802.3_Silent_p.L2978L|REV3L_ENST00000368805.1_Silent_p.L2978L|REV3L_ENST00000435970.1_Silent_p.L2900L			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2978					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CATTCAGTCTCAGAGTTGGGT	0.473								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(8698-8700)ctG>ctC	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							114.0	114.0	114.0					6																	111631164		2203	4300	6503	SO:0001819	synonymous_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111631164C>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.8934G>C	6.37:g.111631164C>G						REV3L_ENST00000462119.1_5'UTR|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000368805.1_Silent_p.L2978L|REV3L_ENST00000358835.3_Silent_p.L2978L|REV3L_ENST00000368802.3_Silent_p.L2978L	p.L2900L			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	32	9516	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2978					O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	c.8700G>C	CCDS5091.2																																																																																				0.473	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		28	84	0	0	0	1	0	28	84				
LATS2	26524	broad.mit.edu	37	13	21555623	21555623	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:21555623C>T	ENST00000382592.4	-	6	3052	c.2647G>A	c.(2647-2649)Gag>Aag	p.E883K	LATS2_ENST00000542899.1_Missense_Mutation_p.E883K	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		AGGAGCACCTCGGGTGCGATG	0.622																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(2647-2649)Gag>Aag		large tumor suppressor kinase 2							75.0	61.0	65.0					13																	21555623		2203	4300	6503	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21555623C>T	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2647G>A	13.37:g.21555623C>T	ENSP00000372035:p.Glu883Lys					LATS2_ENST00000542899.1_Missense_Mutation_p.E883K	p.E883K	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	6	3052	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	883			Protein kinase.			Missense_Mutation	SNP	ENST00000382592.4	37	c.2647G>A	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	C	35	5.541767	0.96474	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.38560	1.13;1.13	5.93	5.93	0.95920	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.75004	0.3791	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80037	-0.1550	10	0.87932	D	0	.	20.3887	0.98946	0.0:1.0:0.0:0.0	.	883	Q9NRM7	LATS2_HUMAN	K	883	ENSP00000372035:E883K;ENSP00000441817:E883K	ENSP00000372035:E883K	E	-	1	0	LATS2	20453623	1.000000	0.71417	0.958000	0.39756	0.795000	0.44927	7.770000	0.85390	2.828000	0.97474	0.644000	0.83932	GAG		0.622	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			12	60	0	0	0	1	0	12	60				
DAGLA	747	broad.mit.edu	37	11	61502441	61502441	+	Silent	SNP	G	G	A	rs540969603		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:61502441G>A	ENST00000257215.5	+	10	1211	c.1095G>A	c.(1093-1095)gcG>gcA	p.A365A		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	365					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ACATGACTGCGGTGGACATCG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		19267	0.0		0.0	False		,,,				2504	0.001					ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(1093-1095)gcG>gcA		diacylglycerol lipase, alpha							204.0	192.0	196.0					11																	61502441		2202	4299	6501	SO:0001819	synonymous_variant	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61502441G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1095G>A	11.37:g.61502441G>A							p.A365A	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	10	1211	+			365					A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	c.1095G>A	CCDS31578.1																																																																																				0.637	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		93	355	0	0	0	1	0	93	355				
TTC3	7267	broad.mit.edu	37	21	38523186	38523186	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:38523186T>C	ENST00000399017.2	+	25	5023		c.e25+2		TTC3_ENST00000540756.1_Splice_Site|TTC3_ENST00000355666.1_Splice_Site|TTC3_ENST00000354749.2_Splice_Site|TTC3_ENST00000479930.1_Splice_Site	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3						negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATGTTCTAGGTAAGATTTTTA	0.289																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.e25+2		tetratricopeptide repeat domain 3							47.0	50.0	49.0					21																	38523186		2202	4296	6498	SO:0001630	splice_region_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38523186T>C	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.2276+2T>C	21.37:g.38523186T>C						TTC3_ENST00000354749.2_Splice_Site|TTC3_ENST00000355666.1_Splice_Site|TTC3_ENST00000540756.1_Splice_Site|TTC3_ENST00000479930.1_Splice_Site		NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			25	5023	+		Myeloproliferative disorder(46;0.0412)						A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Splice_Site	SNP	ENST00000399017.2	37		CCDS13651.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.530342	0.64860	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749;ENST00000414818	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6085	0.68498	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTC3	37445056	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.759000	0.55227	2.008000	0.58898	0.533000	0.62120	.		0.289	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		Intron	4	48	0	0	0	1	0	4	48				
DNAJC13	23317	broad.mit.edu	37	3	132202402	132202402	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:132202402T>C	ENST00000260818.6	+	28	3411	c.3163T>C	c.(3163-3165)Tgt>Cgt	p.C1055R		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1055					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GATCACAATGTGTGGATATTT	0.398																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(3163-3165)Tgt>Cgt		DnaJ (Hsp40) homolog, subfamily C, member 13							134.0	121.0	126.0					3																	132202402		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132202402T>C	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3163T>C	3.37:g.132202402T>C	ENSP00000260818:p.Cys1055Arg						p.C1055R	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			28	3411	+			1055					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.3163T>C	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224560	0.79576	.	.	ENSG00000138246	ENST00000260818	T	0.51817	0.69	5.73	5.73	0.89815	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	M	0.86573	2.825	0.80722	D	1	D	0.63046	0.992	D	0.74023	0.982	T	0.78478	-0.2188	10	0.87932	D	0	.	16.3197	0.82945	0.0:0.0:0.0:1.0	.	1055	O75165	DJC13_HUMAN	R	1055	ENSP00000260818:C1055R	ENSP00000260818:C1055R	C	+	1	0	DNAJC13	133685092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.302000	0.77476	0.533000	0.62120	TGT		0.398	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		32	78	0	0	0	1	0	32	78				
SARDH	1757	broad.mit.edu	37	9	136594927	136594927	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:136594927T>C	ENST00000371872.4	-	6	1132	c.875A>G	c.(874-876)cAc>cGc	p.H292R	SARDH_ENST00000298628.5_Missense_Mutation_p.H292R|SARDH_ENST00000371867.1_Missense_Mutation_p.H203R|SARDH_ENST00000422262.2_Missense_Mutation_p.H124R|SARDH_ENST00000439388.1_Missense_Mutation_p.H292R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	292					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		ATAGGCATGGTGCATGGCCAC	0.632																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(874-876)cAc>cGc		sarcosine dehydrogenase							101.0	83.0	89.0					9																	136594927		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136594927T>C		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.875A>G	9.37:g.136594927T>C	ENSP00000360938:p.His292Arg					SARDH_ENST00000298628.5_Missense_Mutation_p.H292R|SARDH_ENST00000371867.1_Missense_Mutation_p.H203R|SARDH_ENST00000422262.2_Missense_Mutation_p.H124R|SARDH_ENST00000439388.1_Missense_Mutation_p.H292R	p.H292R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	6	1132	-			292					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.875A>G	CCDS6978.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.368901	0.42003	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000371867;ENST00000393050;ENST00000298628	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	5.02	5.02	0.67125	FAD dependent oxidoreductase (1);	0.052557	0.85682	D	0.000000	T	0.62563	0.2438	N	0.12443	0.215	0.80722	D	1	B	0.09022	0.002	B	0.19946	0.027	T	0.57734	-0.7760	10	0.25106	T	0.35	-36.1289	14.7348	0.69409	0.0:0.0:0.0:1.0	.	292	Q9UL12	SARDH_HUMAN	R	292;292;124;292;292;292;203;270;292	ENSP00000360938:H292R;ENSP00000403084:H292R;ENSP00000415537:H124R;ENSP00000360933:H203R;ENSP00000298628:H292R	ENSP00000298628:H292R	H	-	2	0	SARDH	135584748	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	4.658000	0.61497	1.879000	0.54435	0.383000	0.25322	CAC		0.632	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			6	116	0	0	0	1	0	6	116				
USP1	7398	broad.mit.edu	37	1	62916129	62916129	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:62916129A>G	ENST00000339950.4	+	9	2650	c.1835A>G	c.(1834-1836)aAt>aGt	p.N612S	USP1_ENST00000371146.1_Missense_Mutation_p.N612S	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	612	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GATAAAGGAAATTTTGTGGTT	0.388																																					Ovarian(122;1846 2315 3982 19504)	ENST00000339950.4																			0				breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19						c.(1834-1836)aAt>aGt		ubiquitin specific peptidase 1							87.0	79.0	82.0					1																	62916129		2203	4300	6503	SO:0001583	missense	7398				DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:62916129A>G		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.1835A>G	1.37:g.62916129A>G	ENSP00000343526:p.Asn612Ser					USP1_ENST00000371146.1_Missense_Mutation_p.N612S	p.N612S	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	9	2650	+		all_neural(321;0.0281)	612					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	37	c.1835A>G	CCDS621.1	.	.	.	.	.	.	.	.	.	.	A	10.49	1.364794	0.24684	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.17528	2.27;2.27	5.65	5.65	0.86999	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.472516	0.24557	N	0.037519	T	0.08537	0.0212	N	0.08118	0	0.19575	N	0.999964	P	0.38280	0.625	B	0.34931	0.192	T	0.25710	-1.0124	10	0.07325	T	0.83	-24.3298	16.0399	0.80667	1.0:0.0:0.0:0.0	.	612	O94782	UBP1_HUMAN	S	612	ENSP00000360188:N612S;ENSP00000343526:N612S	ENSP00000343526:N612S	N	+	2	0	USP1	62688717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.439000	0.52878	2.371000	0.80710	0.533000	0.62120	AAT		0.388	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		4	91	0	0	0	1	0	4	91				
MRGPRX1	259249	broad.mit.edu	37	11	18955628	18955628	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18955628T>C	ENST00000302797.3	-	1	928	c.704A>G	c.(703-705)cAg>cGg	p.Q235R	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'Flank	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	235					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TAGGAAAAACTGAATGCCAAA	0.478																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(703-705)cAg>cGg		MAS-related GPR, member X1							72.0	65.0	67.0					11																	18955628		2194	4287	6481	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955628T>C		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.704A>G	11.37:g.18955628T>C	ENSP00000305766:p.Gln235Arg						p.Q235R	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	928	-			235					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.704A>G	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	3.748	-0.052241	0.07362	.	.	ENSG00000170255	ENST00000302797	T	0.71461	-0.57	2.04	-0.693	0.11298	GPCR, rhodopsin-like superfamily (1);	2.682860	0.01235	N	0.008463	T	0.64349	0.2590	L	0.51422	1.61	0.09310	N	1	B	0.12630	0.006	B	0.15870	0.014	T	0.38845	-0.9642	10	0.36615	T	0.2	.	6.1393	0.20251	0.6472:0.0:0.0:0.3528	.	235	Q96LB2	MRGX1_HUMAN	R	235	ENSP00000305766:Q235R	ENSP00000305766:Q235R	Q	-	2	0	MRGPRX1	18912204	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.775000	0.00187	-0.174000	0.10743	-0.723000	0.03601	CAG		0.478	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		7	45	0	0	0	1	0	7	45				
NUP88	4927	broad.mit.edu	37	17	5312177	5312177	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:5312177G>C	ENST00000573584.1	-	5	1242	c.733C>G	c.(733-735)Cca>Gca	p.P245A		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	245					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GCTGCCAATGGCCCAAAGTCA	0.408																																						ENST00000573584.1																			0				endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						c.(733-735)Cca>Gca		nucleoporin 88kDa							101.0	91.0	94.0					17																	5312177		2203	4300	6503	SO:0001583	missense	4927				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	g.chr17:5312177G>C	Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.733C>G	17.37:g.5312177G>C	ENSP00000458954:p.Pro245Ala						p.P245A	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN			5	1242	-			245					D3DTM2|Q9BWE5	Missense_Mutation	SNP	ENST00000573584.1	37	c.733C>G	CCDS11070.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142183	0.77775	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	4.81	4.81	0.61882	.	0.054526	0.64402	D	0.000001	T	0.78451	0.4285	M	0.76002	2.32	0.80722	D	1	D;D;D	0.71674	0.998;0.98;0.996	D;P;P	0.69654	0.965;0.714;0.883	T	0.80688	-0.1271	9	0.66056	D	0.02	-23.5328	17.4444	0.87574	0.0:0.0:1.0:0.0	.	245;114;245	B7Z5I6;B4DP20;Q99567	.;.;NUP88_HUMAN	A	245;114	.	ENSP00000225696:P245A	P	-	1	0	NUP88	5252901	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.578000	0.60929	2.690000	0.91761	0.460000	0.39030	CCA		0.408	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216918.3	NM_002532		23	52	0	0	0	1	0	23	52				
CHPF2	54480	broad.mit.edu	37	7	150931160	150931160	+	Silent	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:150931160T>G	ENST00000035307.2	+	1	1576	c.63T>G	c.(61-63)tcT>tcG	p.S21S	CHPF2_ENST00000495645.1_Intron	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	21					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TAGGGCTGTCTCTGGGGTGCA	0.657																																						ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(61-63)tcT>tcG		chondroitin polymerizing factor 2							58.0	60.0	60.0					7																	150931160		2203	4300	6503	SO:0001819	synonymous_variant	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150931160T>G	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.63T>G	7.37:g.150931160T>G						CHPF2_ENST00000495645.1_Intron	p.S21S	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			1	1576	+			21					B2DBD8|Q6P2I4|Q6UXD2	Silent	SNP	ENST00000035307.2	37	c.63T>G	CCDS34779.1																																																																																				0.657	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		27	75	0	0	0	1	0	27	75				
CHD1L	9557	broad.mit.edu	37	1	146765320	146765320	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:146765320A>C	ENST00000369258.4	+	21	2440	c.2420A>C	c.(2419-2421)gAt>gCt	p.D807A	CHD1L_ENST00000361293.5_Missense_Mutation_p.D526A|CHD1L_ENST00000431239.1_Missense_Mutation_p.D713A|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Missense_Mutation_p.D603A	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	807	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CAGCATCGTGATCGTTCCAAT	0.473																																						ENST00000369258.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2419-2421)gAt>gCt		chromodomain helicase DNA binding protein 1-like							199.0	193.0	195.0					1																	146765320		2203	4300	6503	SO:0001583	missense	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146765320A>C	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2420A>C	1.37:g.146765320A>C	ENSP00000358262:p.Asp807Ala					CHD1L_ENST00000369259.3_Missense_Mutation_p.D603A|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.D526A|CHD1L_ENST00000431239.1_Missense_Mutation_p.D713A	p.D807A	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN			21	2440	+	all_hematologic(923;0.0487)		807			Macro.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	c.2420A>C	CCDS927.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.344494	0.82022	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.27	5.27	0.74061	Appr-1-p processing (1);	0.098116	0.64402	D	0.000002	T	0.50990	0.1648	M	0.61703	1.905	0.58432	D	0.999993	D;D;D	0.89917	0.997;1.0;0.993	D;D;P	0.85130	0.946;0.997;0.802	T	0.54529	-0.8280	10	0.52906	T	0.07	.	11.8759	0.52548	1.0:0.0:0.0:0.0	.	713;603;807	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	A	713;603;807;526	ENSP00000389031:D713A;ENSP00000358263:D603A;ENSP00000358262:D807A;ENSP00000355100:D526A	ENSP00000355100:D526A	D	+	2	0	CHD1L	145231944	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	7.721000	0.84768	2.118000	0.64928	0.455000	0.32223	GAT		0.473	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		31	149	0	0	0	1	0	31	149				
BCL2L13	23786	broad.mit.edu	37	22	18209480	18209480	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:18209480A>G	ENST00000317582.5	+	7	985	c.638A>G	c.(637-639)tAc>tGc	p.Y213C	BCL2L13_ENST00000485631.1_3'UTR|BCL2L13_ENST00000355028.3_Missense_Mutation_p.T142A|BCL2L13_ENST00000538149.1_Missense_Mutation_p.Y89C|BCL2L13_ENST00000543133.1_Missense_Mutation_p.Y51C|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000337612.5_Missense_Mutation_p.Y51C	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	213					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		GAGGAGGAATACCCTGGAATC	0.438																																						ENST00000355028.3																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15						c.(424-426)Acc>Gcc		BCL2-like 13 (apoptosis facilitator)							99.0	92.0	94.0					22																	18209480		2203	4300	6503	SO:0001583	missense	23786				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	g.chr22:18209480A>G	AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.638A>G	22.37:g.18209480A>G	ENSP00000318883:p.Tyr213Cys					BCL2L13_ENST00000317582.5_Missense_Mutation_p.Y213C|BCL2L13_ENST00000538149.1_Missense_Mutation_p.Y89C|BCL2L13_ENST00000337612.5_Missense_Mutation_p.Y51C|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000543133.1_Missense_Mutation_p.Y51C|BCL2L13_ENST00000485631.1_3'UTR	p.T142A	NM_001270733.1|NM_001270734.1	NP_001257662.1|NP_001257663.1	Q9BXK5	B2L13_HUMAN		Lung(27;0.199)	5	550	+		all_epithelial(15;0.123)	357					B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	ENST00000317582.5	37	c.424A>G	CCDS13746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	9.423|9.423	1.083534|1.083534	0.20309|0.20309	.|.	.|.	ENSG00000099968|ENSG00000099968	ENST00000355028|ENST00000317582;ENST00000543133;ENST00000538149;ENST00000337612	T|T;T;T;T	0.24723|0.45276	1.84|2.24;0.91;0.9;0.91	5.12|5.12	0.431|0.431	0.16523|0.16523	.|.	.|0.850769	.|0.10897	.|N	.|0.622002	T|T	0.22742|0.22742	0.0549|0.0549	N|N	0.16478|0.16478	0.41|0.41	0.22710|0.22710	N|N	0.998827|0.998827	B|B;B	0.06786|0.13145	0.001|0.007;0.007	B|B;B	0.09377|0.10450	0.004|0.005;0.005	T|T	0.18840|0.18840	-1.0324|-1.0324	9|10	0.72032|0.39692	D|T	0.01|0.17	1.9125|1.9125	3.7512|3.7512	0.08568|0.08568	0.5449:0.0:0.2122:0.2428|0.5449:0.0:0.2122:0.2428	.|.	142|89;213	E9PDD6|B7Z238;Q9BXK5	.|.;B2L13_HUMAN	A|C	142|213;51;89;51	ENSP00000347133:T142A|ENSP00000318883:Y213C;ENSP00000437667:Y51C;ENSP00000441344:Y89C;ENSP00000338932:Y51C	ENSP00000347133:T142A|ENSP00000318883:Y213C	T|Y	+|+	1|2	0|0	BCL2L13|BCL2L13	16589480|16589480	0.129000|0.129000	0.22400|0.22400	0.069000|0.069000	0.20011|0.20011	0.528000|0.528000	0.34623|0.34623	0.900000|0.900000	0.28431|0.28431	-0.103000|-0.103000	0.12175|0.12175	-0.981000|-0.981000	0.02577|0.02577	ACC|TAC		0.438	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	NM_015367		21	48	0	0	0	1	0	21	48				
AFAP1	60312	broad.mit.edu	37	4	7780604	7780604	+	Splice_Site	SNP	C	C	A	rs376100742		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:7780604C>A	ENST00000360265.4	-	12	1765		c.e12-1		AFAP1_ENST00000382543.3_Splice_Site|AFAP1_ENST00000513842.1_Splice_Site|AFAP1_ENST00000420658.1_Splice_Site|AFAP1_ENST00000358461.2_Splice_Site|AFAP1-AS1_ENST00000608442.1_RNA			Q8N556	AFAP1_HUMAN	actin filament associated protein 1							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TACCCTTGAGCTGTTGAAATA	0.408																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.e14-1		actin filament associated protein 1							59.0	67.0	64.0					4																	7780604		2203	4300	6503	SO:0001630	splice_region_variant	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7780604C>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1531-1G>T	4.37:g.7780604C>A						AFAP1_ENST00000513842.1_Splice_Site|AFAP1_ENST00000360265.4_Splice_Site|AFAP1_ENST00000358461.2_Splice_Site|AFAP1_ENST00000382543.3_Splice_Site		NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			14	2055	-								A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Splice_Site	SNP	ENST00000360265.4	37		CCDS3397.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.240708	0.58995	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7704	0.88490	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AFAP1	7831504	1.000000	0.71417	0.551000	0.28230	0.900000	0.52787	4.655000	0.61476	2.407000	0.81776	0.655000	0.94253	.		0.408	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638	Intron	11	116	1	0	0.00136819	1	0.00138229	11	116				
A2M	2	broad.mit.edu	37	12	9254095	9254095	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:9254095A>C	ENST00000318602.7	-	12	1749	c.1442T>G	c.(1441-1443)aTt>aGt	p.I481S		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	481					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TCCATTCAGAATATAATGTGC	0.493																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(1441-1443)aTt>aGt		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						83.0	79.0	80.0					12																	9254095		1942	4122	6064	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9254095A>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1442T>G	12.37:g.9254095A>C	ENSP00000323929:p.Ile481Ser						p.I481S	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			12	1749	-			481					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.1442T>G	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.006660	0.54361	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.62788	-0.0	5.85	5.85	0.93711	Alpha-2-macroglobulin, N-terminal 2 (1);	0.329067	0.29383	N	0.012318	T	0.70124	0.3188	L	0.52573	1.65	0.37637	D	0.921893	D	0.53462	0.96	P	0.56916	0.809	T	0.73594	-0.3933	10	0.44086	T	0.13	.	15.0595	0.71942	1.0:0.0:0.0:0.0	.	481	P01023	A2MG_HUMAN	S	481;496	ENSP00000323929:I481S	ENSP00000323929:I481S	I	-	2	0	A2M	9145362	0.893000	0.30496	0.634000	0.29324	0.197000	0.23852	3.003000	0.49505	2.238000	0.73509	0.533000	0.62120	ATT		0.493	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		11	59	0	0	0	1	0	11	59				
GSX1	219409	broad.mit.edu	37	13	28368040	28368040	+	Silent	SNP	G	G	A	rs540409473	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:28368040G>A	ENST00000302945.2	+	2	798	c.750G>A	c.(748-750)ccG>ccA	p.P250P		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	250					adenohypophysis development (GO:0021984)|hypothalamus development (GO:0021854)|neuron fate commitment (GO:0048663)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CCATGTCTCCGTCCTCCTCAG	0.657																																						ENST00000302945.2																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(748-750)ccG>ccA		GS homeobox 1							36.0	34.0	34.0					13																	28368040		2203	4300	6503	SO:0001819	synonymous_variant	219409				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:28368040G>A	AB044157	CCDS9326.1	13q12.2	2012-03-09		2007-07-26	ENSG00000169840	ENSG00000169840		"""Homeoboxes / ANTP class : HOXL subclass"""	20374	protein-coding gene	gene with protein product				GSH1			Standard	NM_145657		Approved	Gsh-1	uc001urr.1	Q9H4S2	OTTHUMG00000016637	ENST00000302945.2:c.750G>A	13.37:g.28368040G>A							p.P250P	NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)	2	798	+		Lung SC(185;0.0161)	250					Q9UD62	Silent	SNP	ENST00000302945.2	37	c.750G>A	CCDS9326.1																																																																																				0.657	GSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044309.2	NM_145657		23	45	0	0	0	1	0	23	45				
ALLC	55821	broad.mit.edu	37	2	3750034	3750034	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:3750034G>A	ENST00000252505.3	+	12	1219	c.1057G>A	c.(1057-1059)Gtc>Atc	p.V353I	AC010907.5_ENST00000441632.1_RNA|ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	372					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GCTCACCATCGTCCCCGACGG	0.597										HNSCC(21;0.051)																												ENST00000252505.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30						c.(1057-1059)Gtc>Atc		allantoicase							34.0	37.0	36.0					2																	3750034		1953	4141	6094	SO:0001583	missense	55821						allantoicase activity	g.chr2:3750034G>A	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.1057G>A	2.37:g.3750034G>A	ENSP00000252505:p.Val353Ile	HNSCC(21;0.051)				ALLC_ENST00000471711.1_3'UTR	p.V353I	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	12	1219	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	372					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	c.1057G>A	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	7.391	0.630684	0.14322	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.04	-0.606	0.11619	Allantoicase domain (1);Galactose-binding domain-like (1);	1.169620	0.06080	N	0.661590	T	0.10035	0.0246	N	0.04373	-0.215	0.09310	N	1	P	0.36065	0.535	B	0.27887	0.084	T	0.12091	-1.0561	9	0.10377	T	0.69	-18.2473	4.0434	0.09761	0.1979:0.0:0.3501:0.4521	.	372	Q8N6M5	ALLC_HUMAN	I	353	.	ENSP00000252505:V353I	V	+	1	0	ALLC	3727909	0.000000	0.05858	0.000000	0.03702	0.518000	0.34316	-0.476000	0.06591	-0.370000	0.08016	0.591000	0.81541	GTC		0.597	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			12	33	0	0	0	1	0	12	33				
QRSL1	55278	broad.mit.edu	37	6	107090875	107090875	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:107090875T>C	ENST00000369046.4	+	4	394	c.290T>C	c.(289-291)aTa>aCa	p.I97T	QRSL1_ENST00000369044.1_Missense_Mutation_p.I97T	NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1											endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		TCAGGTTATATACCACCTTAT	0.318																																					NSCLC(192;2127 2142 11668 26277 49545)	ENST00000369046.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						c.(289-291)aTa>aCa		glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1							65.0	69.0	68.0					6																	107090875		2203	4300	6503	SO:0001583	missense	55278				translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor	g.chr6:107090875T>C	AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"""glutamyl-tRNA(Gln) amidotransferase, subunit A"""					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.290T>C	6.37:g.107090875T>C	ENSP00000358042:p.Ile97Thr					QRSL1_ENST00000369044.1_Missense_Mutation_p.I97T	p.I97T	NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)	4	394	+	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	97						Missense_Mutation	SNP	ENST00000369046.4	37	c.290T>C	CCDS5057.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.872051	0.33069	.	.	ENSG00000130348	ENST00000369046;ENST00000369044	T;T	0.55413	0.52;0.52	5.51	5.51	0.81932	.	0.933505	0.09208	N	0.833697	T	0.29588	0.0738	N	0.22421	0.69	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.004	T	0.03555	-1.1025	10	0.52906	T	0.07	-6.8746	15.9158	0.79517	0.0:0.0:0.0:1.0	.	97;97	Q9H0R6;Q9H0R6-2	GATA_HUMAN;.	T	97	ENSP00000358042:I97T;ENSP00000358040:I97T	ENSP00000358040:I97T	I	+	2	0	QRSL1	107197568	0.998000	0.40836	0.954000	0.39281	0.987000	0.75469	2.955000	0.49121	2.209000	0.71365	0.533000	0.62120	ATA		0.318	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041667.1	NM_018292		13	42	0	0	0	1	0	13	42				
RAI1	10743	broad.mit.edu	37	17	17699907	17699907	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:17699907T>C	ENST00000353383.1	+	3	4114	c.3645T>C	c.(3643-3645)tcT>tcC	p.S1215S	RAI1_ENST00000261641.6_Silent_p.S1215S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1215					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCAAGCTCTCTGACCGGCCCC	0.652																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(3643-3645)tcT>tcC		retinoic acid induced 1							40.0	47.0	44.0					17																	17699907		2203	4300	6503	SO:0001819	synonymous_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699907T>C	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3645T>C	17.37:g.17699907T>C						RAI1_ENST00000261641.6_Silent_p.S1215S	p.S1215S	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4114	+			1215					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	c.3645T>C	CCDS11188.1																																																																																				0.652	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		22	77	0	0	0	1	0	22	77				
SMARCA4	6597	broad.mit.edu	37	19	11107214	11107214	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11107214T>C	ENST00000429416.3	+	12	2087	c.1806T>C	c.(1804-1806)gaT>gaC	p.D602D	SMARCA4_ENST00000444061.3_Silent_p.D602D|SMARCA4_ENST00000413806.3_Silent_p.D602D|SMARCA4_ENST00000541122.2_Silent_p.D602D|SMARCA4_ENST00000358026.2_Silent_p.D602D|SMARCA4_ENST00000590574.1_Silent_p.D602D|SMARCA4_ENST00000344626.4_Silent_p.D602D|SMARCA4_ENST00000450717.3_Silent_p.D602D|SMARCA4_ENST00000589677.1_Silent_p.D602D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	602					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTGGGCCGGATGGCGAGGTGA	0.507			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(1804-1806)gaT>gaC		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							100.0	100.0	100.0					19																	11107214		2203	4300	6503	SO:0001819	synonymous_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11107214T>C	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1806T>C	19.37:g.11107214T>C						SMARCA4_ENST00000541122.2_Silent_p.D602D|SMARCA4_ENST00000344626.4_Silent_p.D602D|SMARCA4_ENST00000450717.3_Silent_p.D602D|SMARCA4_ENST00000590574.1_Silent_p.D602D|SMARCA4_ENST00000589677.1_Silent_p.D602D|SMARCA4_ENST00000444061.3_Silent_p.D602D|SMARCA4_ENST00000413806.3_Silent_p.D602D|SMARCA4_ENST00000429416.3_Silent_p.D602D	p.D602D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			11	2090	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	602					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.1806T>C	CCDS12253.1																																																																																				0.507	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		30	117	0	0	0	1	0	30	117				
MYH6	4624	broad.mit.edu	37	14	23862231	23862231	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23862231G>A	ENST00000356287.3	-	23	3170	c.3141C>T	c.(3139-3141)cgC>cgT	p.R1047R	MYH6_ENST00000405093.3_Silent_p.R1047R			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1047					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCAGGTCCATGCGCACCTTCT	0.493																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(3139-3141)cgC>cgT		myosin, heavy chain 6, cardiac muscle, alpha							110.0	96.0	100.0					14																	23862231		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23862231G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3141C>T	14.37:g.23862231G>A						MYH6_ENST00000356287.3_Silent_p.R1047R	p.R1047R	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	24	3211	-	all_cancers(95;2.54e-05)		1047					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.3141C>T	CCDS9600.1																																																																																				0.493	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			29	80	0	0	0	1	0	29	80				
PLK1	5347	broad.mit.edu	37	16	23702298	23702298	+	IGR	SNP	C	C	T	rs375401457		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:23702298C>T	ENST00000300093.4	+	0	2227				CTD-2196E14.5_ENST00000566143.1_RNA|ERN2_ENST00000256797.4_Missense_Mutation_p.V927I|ERN2_ENST00000457008.2_Missense_Mutation_p.V827I	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		AAGTACTGGACGAAGCCATCA	0.617																																					Colon(12;240 564 27038 33155)	ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(2779-2781)Gtc>Atc		endoplasmic reticulum to nucleus signaling 2		C	ILE/VAL	0,4394		0,0,2197	90.0	84.0	86.0		2779	3.2	0.9	16		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	ERN2	NM_033266.3	29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	927/975	23702298	1,12993	2197	4300	6497	SO:0001628	intergenic_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23702298C>T		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23702298C>T						ERN2_ENST00000457008.2_Missense_Mutation_p.V827I	p.V927I	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	22	2947	-			879					Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.2779G>A	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766423	0.31228	0.0	1.16E-4	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.30182	1.54;1.54	5.22	3.23	0.37069	.	0.352346	0.28544	N	0.014979	T	0.29223	0.0727	M	0.62266	1.93	0.38895	D	0.957208	B;B	0.26577	0.153;0.023	B;B	0.23018	0.034;0.043	T	0.09840	-1.0656	10	0.38643	T	0.18	.	10.4465	0.44497	0.0:0.835:0.0:0.165	.	827;879	E7ETG2;A5YM65	.;.	I	927;827	ENSP00000256797:V927I;ENSP00000413812:V827I	ENSP00000256797:V927I	V	-	1	0	ERN2	23609799	0.256000	0.24012	0.879000	0.34478	0.078000	0.17371	0.642000	0.24735	0.676000	0.31285	0.561000	0.74099	GTC		0.617	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		5	96	0	0	0	1	0	5	96				
HRNR	388697	broad.mit.edu	37	1	152188533	152188533	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:152188533T>C	ENST00000368801.2	-	3	5647	c.5572A>G	c.(5572-5574)Agt>Ggt	p.S1858G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1858					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCGGCCACTGCTGGAAGAC	0.592																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(5572-5574)Agt>Ggt		hornerin							187.0	306.0	268.0					1																	152188533		2050	4230	6280	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188533T>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5572A>G	1.37:g.152188533T>C	ENSP00000357791:p.Ser1858Gly					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S1858G	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5647	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1858					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.5572A>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	T	7.372	0.626993	0.14257	.	.	ENSG00000197915	ENST00000368801	T	0.03860	3.78	3.89	-7.78	0.01223	.	.	.	.	.	T	0.00815	0.0027	L	0.40543	1.245	0.09310	N	1	B	0.22604	0.072	B	0.14578	0.011	T	0.45469	-0.9259	9	0.14656	T	0.56	.	5.2957	0.15751	0.2005:0.0:0.4226:0.3769	.	1858	Q86YZ3	HORN_HUMAN	G	1858	ENSP00000357791:S1858G	ENSP00000357791:S1858G	S	-	1	0	HRNR	150455157	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.303000	0.01135	-2.412000	0.00570	-1.201000	0.01664	AGT		0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		71	1876	0	0	0	1	0	71	1876				
HADH	3033	broad.mit.edu	37	4	108935639	108935639	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:108935639A>G	ENST00000309522.3	+	3	463	c.314A>G	c.(313-315)gAt>gGt	p.D105G	HADH_ENST00000403312.1_Missense_Mutation_p.D164G|HADH_ENST00000454409.2_Missense_Mutation_p.D109G|HADH_ENST00000505878.1_Missense_Mutation_p.D109G|HADH_ENST00000603302.1_Missense_Mutation_p.D105G	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	434					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		ACCAGCACGGATGCAGCCTCC	0.527																																						ENST00000505878.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15						c.(325-327)gAt>gGt		hydroxyacyl-CoA dehydrogenase	NADH(DB00157)						163.0	147.0	153.0					4																	108935639		2203	4300	6503	SO:0001583	missense	3033				fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding	g.chr4:108935639A>G	X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.314A>G	4.37:g.108935639A>G	ENSP00000312288:p.Asp105Gly					HADH_ENST00000403312.1_Missense_Mutation_p.D164G|HADH_ENST00000309522.3_Missense_Mutation_p.D105G|HADH_ENST00000603302.1_Missense_Mutation_p.D105G|HADH_ENST00000454409.2_Missense_Mutation_p.D109G	p.D109G			Q16836	HCDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	4	599	+		Hepatocellular(203;0.217)	105					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000309522.3	37	c.326A>G	CCDS3678.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.924249	0.92319	.	.	ENSG00000138796	ENST00000403312;ENST00000309522;ENST00000505878;ENST00000454409	T;T;T	0.79749	-1.3;-1.3;-1.3	5.84	5.84	0.93424	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89217	0.6652	M	0.77103	2.36	0.80722	D	1	D;D;D	0.62365	0.96;0.985;0.991	P;D;D	0.66351	0.831;0.943;0.911	D	0.90373	0.4382	10	0.72032	D	0.01	-26.4243	16.2302	0.82332	1.0:0.0:0.0:0.0	.	164;109;105	Q16836-2;E9PF18;Q16836	.;.;HCDH_HUMAN	G	105;105;109;109	ENSP00000312288:D105G;ENSP00000425952:D109G;ENSP00000395167:D109G	ENSP00000312288:D105G	D	+	2	0	HADH	109155088	1.000000	0.71417	0.371000	0.25978	0.021000	0.10359	9.016000	0.93645	2.228000	0.72767	0.533000	0.62120	GAT		0.527	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2	NM_005327		41	143	0	0	0	1	0	41	143				
DNAH7	56171	broad.mit.edu	37	2	196788388	196788388	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:196788388T>C	ENST00000312428.6	-	23	3856	c.3756A>G	c.(3754-3756)tcA>tcG	p.S1252S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1252	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTTACAAGTGATGAGAGGA	0.408																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(3754-3756)tcA>tcG		dynein, axonemal, heavy chain 7							114.0	104.0	107.0					2																	196788388		1927	4147	6074	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196788388T>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3756A>G	2.37:g.196788388T>C							p.S1252S	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			23	3856	-			1252			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.3756A>G	CCDS42794.1																																																																																				0.408	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		10	64	0	0	0	1	0	10	64				
PBK	55872	broad.mit.edu	37	8	27668686	27668686	+	Intron	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:27668686T>C	ENST00000301905.4	-	7	1059				PBK_ENST00000522944.1_Splice_Site|ESCO2_ENST00000397418.2_Intron	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase						mitotic nuclear division (GO:0007067)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		AGGCAGGAGctacaaatcacg	0.443																																						ENST00000522944.1																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.e7-2		PDZ binding kinase							60.0	55.0	57.0					8																	27668686		2203	4299	6502	SO:0001627	intron_variant	55872				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:27668686T>C	AB027249	CCDS6063.1, CCDS64858.1	8p21.2	2009-08-06			ENSG00000168078	ENSG00000168078			18282	protein-coding gene	gene with protein product	"""T-LAK cell-originated protein kinase"", ""cancer/testis antigen 84"""	611210				10781613, 10779557	Standard	NM_018492		Approved	TOPK, FLJ14385, Nori-3, SPK, CT84	uc003xgi.3	Q96KB5	OTTHUMG00000102113	ENST00000301905.4:c.596-35A>G	8.37:g.27668686T>C						PBK_ENST00000301905.4_Intron|ESCO2_ENST00000397418.2_Intron				Q96KB5	TOPK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)	7	988	-		Ovarian(32;0.000953)						B4DX68|D3DST2|Q9NPD9|Q9NYL7|Q9NZK6	Splice_Site	SNP	ENST00000301905.4	37		CCDS6063.1																																																																																				0.443	PBK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219952.2	NM_018492		9	36	0	0	0	1	0	9	36				
SDK2	54549	broad.mit.edu	37	17	71348618	71348618	+	Missense_Mutation	SNP	C	C	T	rs540680710		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:71348618C>T	ENST00000392650.3	-	41	5752	c.5752G>A	c.(5752-5754)Gtg>Atg	p.V1918M	SDK2_ENST00000388726.3_Missense_Mutation_p.V1899M|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1918	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTACCTGGCACAGACTGGGAG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		16368	0.001		0.0	False		,,,				2504	0.0					ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(5752-5754)Gtg>Atg		sidekick cell adhesion molecule 2							24.0	23.0	23.0					17																	71348618		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71348618C>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5752G>A	17.37:g.71348618C>T	ENSP00000376421:p.Val1918Met					SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.V1899M	p.V1918M	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			41	5752	-			1918			Fibronectin type-III 13.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.5752G>A	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829466	0.50845	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.55234	0.53;0.53;0.53	5.37	5.37	0.77165	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.123636	0.53938	D	0.000054	T	0.57286	0.2043	L	0.60904	1.88	0.44447	D	0.997379	B;B	0.31949	0.236;0.348	B;B	0.37650	0.13;0.255	T	0.58691	-0.7592	10	0.52906	T	0.07	.	19.1067	0.93299	0.0:1.0:0.0:0.0	.	1918;1899	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	M	1542;1918;1899;1075;1918;259	ENSP00000376421:V1918M;ENSP00000373378:V1899M;ENSP00000407098:V1075M	ENSP00000324967:V1918M	V	-	1	0	SDK2	68860213	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.685000	0.54678	2.509000	0.84616	0.655000	0.94253	GTG		0.667	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		7	22	0	0	0	1	0	7	22				
TNPO1	3842	broad.mit.edu	37	5	72192975	72192975	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:72192975A>G	ENST00000337273.5	+	20	2761	c.2335A>G	c.(2335-2337)Aca>Gca	p.T779A	TNPO1_ENST00000454282.1_Missense_Mutation_p.T729A|TNPO1_ENST00000506351.2_Missense_Mutation_p.T771A|TNPO1_ENST00000523768.1_Missense_Mutation_p.T729A	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	779					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GTTAGAGAATACAGGTACCAT	0.358																																						ENST00000337273.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(2335-2337)Aca>Gca		transportin 1							63.0	59.0	60.0					5																	72192975		2203	4300	6503	SO:0001583	missense	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72192975A>G	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2335A>G	5.37:g.72192975A>G	ENSP00000336712:p.Thr779Ala					TNPO1_ENST00000523768.1_Missense_Mutation_p.T729A|TNPO1_ENST00000454282.1_Missense_Mutation_p.T729A|TNPO1_ENST00000506351.2_Missense_Mutation_p.T771A	p.T779A	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	20	2761	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	779					B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	c.2335A>G	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.745432	0.49151	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.207799	0.48767	D	0.000171	T	0.27063	0.0663	L	0.37466	1.105	0.80722	D	1	B;B	0.14012	0.009;0.002	B;B	0.15870	0.014;0.002	T	0.03259	-1.1055	10	0.28530	T	0.3	-13.9444	15.9644	0.79956	1.0:0.0:0.0:0.0	.	729;779	Q92973-3;Q92973	.;TNPO1_HUMAN	A	779;729;729;771;290	ENSP00000336712:T779A;ENSP00000398524:T729A;ENSP00000428899:T729A;ENSP00000425118:T771A	ENSP00000336712:T779A	T	+	1	0	TNPO1	72228731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.927000	0.92846	2.172000	0.68678	0.460000	0.39030	ACA		0.358	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		8	63	0	0	0	1	0	8	63				
SUV420H2	84787	broad.mit.edu	37	19	55854170	55854170	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:55854170C>A	ENST00000255613.3	+	4	585	c.337C>A	c.(337-339)Cgc>Agc	p.R113S	AC020922.1_ENST00000539076.1_Intron|SUV420H2_ENST00000402499.4_Intron	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	113	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GCCCTGCACGCGCTACTCCAT	0.622																																						ENST00000255613.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4						c.(337-339)Cgc>Agc		suppressor of variegation 4-20 homolog 2 (Drosophila)							164.0	116.0	132.0					19																	55854170		2203	4300	6503	SO:0001583	missense	84787				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr19:55854170C>A	BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"""Chromatin-modifying enzymes / K-methyltransferases"""	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.337C>A	19.37:g.55854170C>A	ENSP00000255613:p.Arg113Ser					AC020922.1_ENST00000539076.1_Intron|SUV420H2_ENST00000402499.4_Intron	p.R113S	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	4	585	+	Breast(117;0.191)		113			SET.		Q8WZ10|Q9BRZ6	Missense_Mutation	SNP	ENST00000255613.3	37	c.337C>A	CCDS12922.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933992	0.73442	.	.	ENSG00000133247	ENST00000255613	D	0.86297	-2.1	4.33	2.06	0.26882	SET domain (1);	0.000000	0.64402	D	0.000002	D	0.90686	0.7078	M	0.91818	3.245	0.58432	D	0.999996	D	0.71674	0.998	P	0.53490	0.727	D	0.90231	0.4279	10	0.72032	D	0.01	-10.9933	6.0755	0.19913	0.2999:0.6007:0.0:0.0994	.	113	Q86Y97	SV422_HUMAN	S	113	ENSP00000255613:R113S	ENSP00000255613:R113S	R	+	1	0	SUV420H2	60545982	0.980000	0.34600	1.000000	0.80357	0.930000	0.56654	2.612000	0.46343	2.120000	0.65058	0.491000	0.48974	CGC		0.622	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318309.2	NM_032701		4	75	1	0	1	1	1	4	75				
PCDHA1	56147	broad.mit.edu	37	5	140166235	140166235	+	Missense_Mutation	SNP	G	G	C	rs138016369	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140166235G>C	ENST00000504120.2	+	1	360	c.360G>C	c.(358-360)gaG>gaC	p.E120D	PCDHA1_ENST00000394633.3_Missense_Mutation_p.E120D|PCDHA1_ENST00000378133.3_Missense_Mutation_p.E120D	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	120	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCATGTGGAGGTGAAGGTGA	0.512																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(358-360)gaG>gaC									75.0	80.0	78.0					5																	140166235		2203	4300	6503	SO:0001583	missense	56147							g.chr5:140166235G>C	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.360G>C	5.37:g.140166235G>C	ENSP00000420840:p.Glu120Asp					PCDHA1_ENST00000378133.3_Missense_Mutation_p.E120D|PCDHA1_ENST00000394633.3_Missense_Mutation_p.E120D	p.E120D	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	360	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.360G>C	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	10.71	1.427082	0.25726	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.55930	0.56;0.49;0.59	4.31	3.42	0.39159	Cadherin (3);Cadherin-like (1);	0.000000	0.43260	U	0.000592	T	0.42787	0.1218	L	0.60904	1.88	0.22745	N	0.998789	B;B;B	0.16396	0.005;0.01;0.017	B;B;B	0.15870	0.004;0.014;0.013	T	0.24548	-1.0157	10	0.39692	T	0.17	.	5.0362	0.14436	0.1695:0.0:0.6548:0.1757	.	120;120;120	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	D	120	ENSP00000420840:E120D;ENSP00000378129:E120D;ENSP00000367373:E120D	ENSP00000367373:E120D	E	+	3	2	PCDHA1	140146419	0.594000	0.26849	1.000000	0.80357	0.919000	0.55068	-0.106000	0.10890	2.127000	0.65507	0.650000	0.86243	GAG		0.512	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		37	137	0	0	0	1	0	37	137				
MAT2A	4144	broad.mit.edu	37	2	85769463	85769463	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:85769463G>A	ENST00000306434.3	+	6	858	c.735G>A	c.(733-735)caG>caA	p.Q245Q	MAT2A_ENST00000409017.1_Silent_p.Q182Q	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	245					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	ACCACCTACAGCCAAGTGGCA	0.393																																						ENST00000306434.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(733-735)caG>caA		methionine adenosyltransferase II, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						62.0	56.0	58.0					2																	85769463		2203	4300	6503	SO:0001819	synonymous_variant	4144				methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr2:85769463G>A		CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.735G>A	2.37:g.85769463G>A						MAT2A_ENST00000409017.1_Silent_p.Q182Q	p.Q245Q	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN			6	858	+			245					A8K511|B4DN45|D6W5L1|Q53SP5	Silent	SNP	ENST00000306434.3	37	c.735G>A	CCDS1977.1																																																																																				0.393	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252491.2	NM_005911		11	49	0	0	0	1	0	11	49				
C2CD5	9847	broad.mit.edu	37	12	22625244	22625244	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:22625244T>C	ENST00000333957.4	-	18	2400	c.2145A>G	c.(2143-2145)atA>atG	p.I715M	C2CD5_ENST00000446597.1_Missense_Mutation_p.I715M|C2CD5_ENST00000542676.1_Missense_Mutation_p.I715M|C2CD5_ENST00000544930.1_Missense_Mutation_p.I530M|C2CD5_ENST00000536386.1_Missense_Mutation_p.I717M|C2CD5_ENST00000545552.1_Missense_Mutation_p.I728M|C2CD5_ENST00000396028.2_Missense_Mutation_p.I706M	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	715					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TCCAATTATTTATACCGGGCA	0.239																																						ENST00000333957.4																			0											c.(2143-2145)atA>atG		C2 calcium-dependent domain containing 5							22.0	24.0	23.0					12																	22625244		2151	4216	6367	SO:0001583	missense	9847							g.chr12:22625244T>C	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2145A>G	12.37:g.22625244T>C	ENSP00000334229:p.Ile715Met					C2CD5_ENST00000396028.2_Missense_Mutation_p.I706M|C2CD5_ENST00000446597.1_Missense_Mutation_p.I715M|C2CD5_ENST00000544930.1_Missense_Mutation_p.I530M|C2CD5_ENST00000545552.1_Missense_Mutation_p.I728M|C2CD5_ENST00000542676.1_Missense_Mutation_p.I715M|C2CD5_ENST00000536386.1_Missense_Mutation_p.I717M	p.I715M	NM_014802.1	NP_055617.1					18	2400	-								B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.2145A>G	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.627935	0.46944	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	T;T;T;T;T;T	0.65732	-0.15;-0.15;-0.17;-0.17;-0.15;-0.16	5.66	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	N	0.16166	0.38	0.38692	D	0.952781	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.994	D;D;D;D;P	0.87578	0.982;0.959;0.984;0.998;0.854	T	0.63853	-0.6543	10	0.29301	T	0.29	-27.8307	13.1584	0.59531	0.0:0.0:0.2288:0.7712	.	717;715;530;706;715	F5H2A1;B4DRN7;F5H3N1;Q86YS7-2;Q86YS7	.;.;.;.;K0528_HUMAN	M	715;715;717;706;715;728;530	ENSP00000334229:I715M;ENSP00000388756:I715M;ENSP00000439392:I717M;ENSP00000379345:I706M;ENSP00000441951:I715M;ENSP00000443204:I728M	ENSP00000334229:I715M	I	-	3	3	KIAA0528	22516511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.364000	0.59479	2.160000	0.67779	0.477000	0.44152	ATA		0.239	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		6	12	0	0	0	1	0	6	12				
ZSCAN18	65982	broad.mit.edu	37	19	58596148	58596148	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:58596148C>T	ENST00000240727.6	-	7	1836	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	ZSCAN18_ENST00000421612.2_Silent_p.P343P|ZSCAN18_ENST00000600404.1_Silent_p.P535P|ZSCAN18_ENST00000601144.1_Silent_p.P479P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	479					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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGCGGGTGGACGGTTGGGGGC	0.726																																						ENST00000240727.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(1435-1437)ccG>ccA		zinc finger and SCAN domain containing 18							10.0	11.0	11.0					19																	58596148		2142	4192	6334	SO:0001819	synonymous_variant	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596148C>T	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1437G>A	19.37:g.58596148C>T						ZSCAN18_ENST00000600404.1_Silent_p.P535P|ZSCAN18_ENST00000601144.1_Silent_p.P479P|ZSCAN18_ENST00000421612.2_Silent_p.P343P	p.P479P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1836	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	479					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	ENST00000240727.6	37	c.1437G>A	CCDS12971.1																																																																																				0.726	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		6	15	0	0	0	1	0	6	15				
SLC4A9	83697	broad.mit.edu	37	5	139752342	139752342	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:139752342T>C	ENST00000230993.6	+	21	2946	c.2911T>C	c.(2911-2913)Tat>Cat	p.Y971H	SLC4A9_ENST00000432095.2_Missense_Mutation_p.Y933H|CTC-329D1.2_ENST00000507521.1_RNA|SLC4A9_ENST00000507527.1_Missense_Mutation_p.Y971H|SLC4A9_ENST00000506545.1_Missense_Mutation_p.Y884H|SLC4A9_ENST00000506757.2_Missense_Mutation_p.Y947H	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	971	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCTGATGTATCAGCCAAA	0.463											OREG0016847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000230993.6																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14						c.(2911-2913)Tat>Cat		solute carrier family 4, sodium bicarbonate cotransporter, member 9							31.0	31.0	31.0					5																	139752342		1913	4136	6049	SO:0001583	missense	83697					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr5:139752342T>C	AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.2911T>C	5.37:g.139752342T>C	ENSP00000230993:p.Tyr971His		OREG0016847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1651	SLC4A9_ENST00000432095.2_Missense_Mutation_p.Y933H|CTC-329D1.2_ENST00000507521.1_RNA|SLC4A9_ENST00000507527.1_Missense_Mutation_p.Y971H|SLC4A9_ENST00000506757.2_Missense_Mutation_p.Y947H|SLC4A9_ENST00000506545.1_Missense_Mutation_p.Y884H	p.Y971H	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		21	2946	+			971			Membrane (anion exchange).		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	ENST00000230993.6	37	c.2911T>C	CCDS58973.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.734821	0.48939	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	T;T;T;T;T	0.80214	-1.35;-1.24;-1.27;-0.99;-1.35	5.61	5.61	0.85477	.	0.000000	0.33438	N	0.004904	D	0.85388	0.5685	L	0.56199	1.76	0.43564	D	0.99588	D;B;B;B	0.67145	0.996;0.076;0.047;0.047	D;B;B;B	0.67725	0.953;0.03;0.039;0.039	D	0.85483	0.1180	10	0.49607	T	0.09	.	10.9325	0.47226	0.0:0.075:0.0:0.925	.	884;971;933;947	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	H	971;947;933;884;971	ENSP00000230993:Y971H;ENSP00000424424:Y947H;ENSP00000410056:Y933H;ENSP00000422855:Y884H;ENSP00000427661:Y971H	ENSP00000230993:Y971H	Y	+	1	0	SLC4A9	139732526	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.498000	0.53302	2.151000	0.67156	0.454000	0.30748	TAT		0.463	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372823.1	NM_031467		6	5	0	0	0	1	0	6	5				
RRAGC	64121	broad.mit.edu	37	1	39322560	39322560	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:39322560A>G	ENST00000373001.3	-	2	608	c.432T>C	c.(430-432)atT>atC	p.I144I		NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				CCTGTGCGTCAATGACGTATA	0.403																																						ENST00000373001.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10						c.(430-432)atT>atC		Ras-related GTP binding C							106.0	101.0	103.0					1																	39322560		2203	4300	6503	SO:0001819	synonymous_variant	64121				apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity	g.chr1:39322560A>G	AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.432T>C	1.37:g.39322560A>G							p.I144I	NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN			2	608	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	144						Silent	SNP	ENST00000373001.3	37	c.432T>C	CCDS430.1																																																																																				0.403	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2	NM_022157		36	83	0	0	0	1	0	36	83				
NR1H4	9971	broad.mit.edu	37	12	100955744	100955744	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:100955744C>T	ENST00000551379.1	+	8	1218	c.1190C>T	c.(1189-1191)gCt>gTt	p.A397V	NR1H4_ENST00000392986.3_Missense_Mutation_p.A387V|NR1H4_ENST00000549996.1_Missense_Mutation_p.A336V|NR1H4_ENST00000548884.1_Missense_Mutation_p.A383V|NR1H4_ENST00000188403.7_Missense_Mutation_p.A393V			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	397	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	GAGGAGTATGCTCTGCTTACA	0.323																																						ENST00000548884.1																			0				NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						c.(1147-1149)gCt>gTt		nuclear receptor subfamily 1, group H, member 4							83.0	85.0	84.0					12																	100955744		2203	4296	6499	SO:0001583	missense	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100955744C>T	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.1190C>T	12.37:g.100955744C>T	ENSP00000447149:p.Ala397Val					NR1H4_ENST00000549996.1_Missense_Mutation_p.A336V|NR1H4_ENST00000188403.7_Missense_Mutation_p.A393V|NR1H4_ENST00000551379.1_Missense_Mutation_p.A397V|NR1H4_ENST00000392986.3_Missense_Mutation_p.A387V	p.A383V	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN			10	1689	+			397			Ligand-binding.		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.1148C>T	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265173	0.95399	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98;-3.98	5.75	5.75	0.90469	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97816	0.9283	L	0.61036	1.89	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.989	D;D;D;D;P	0.87578	0.998;0.993;0.997;0.998;0.787	D	0.98358	1.0547	10	0.87932	D	0	.	19.9564	0.97221	0.0:1.0:0.0:0.0	.	336;397;393;387;383	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	V	383;387;336;397;393	ENSP00000448506:A383V;ENSP00000376712:A387V;ENSP00000448978:A336V;ENSP00000447149:A397V;ENSP00000188403:A393V	ENSP00000188403:A393V	A	+	2	0	NR1H4	99479875	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.073000	0.76784	2.708000	0.92522	0.650000	0.86243	GCT		0.323	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		4	81	0	0	0	1	0	4	81				
CHRNG	1146	broad.mit.edu	37	2	233404727	233404727	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:233404727G>T	ENST00000389494.3	+	2	102	c.81G>T	c.(79-81)gaG>gaT	p.E27D	CHRNG_ENST00000389492.3_Missense_Mutation_p.E27D	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	27					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	ACCAGGAGGAGCGCCTGCTCG	0.632																																						ENST00000389494.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22						c.(79-81)gaG>gaT		cholinergic receptor, nicotinic, gamma (muscle)							54.0	62.0	59.0					2																	233404727		2203	4300	6503	SO:0001583	missense	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233404727G>T	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.81G>T	2.37:g.233404727G>T	ENSP00000374145:p.Glu27Asp					CHRNG_ENST00000389492.3_Missense_Mutation_p.E27D	p.E27D	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	2	102	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	27					B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	c.81G>T	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983304	0.53827	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	T;T	0.77229	-1.08;-1.08	4.01	-1.14	0.09741	Neurotransmitter-gated ion-channel ligand-binding (3);	0.305250	0.30446	N	0.009614	T	0.76428	0.3986	L	0.38953	1.18	0.28295	N	0.923385	D;B	0.63046	0.992;0.35	D;P	0.63113	0.911;0.504	T	0.70802	-0.4773	10	0.42905	T	0.14	.	9.0734	0.36506	0.3847:0.0:0.6153:0.0	.	27;27	Q14DU4;P07510	.;ACHG_HUMAN	D	27	ENSP00000374145:E27D;ENSP00000374143:E27D	ENSP00000374143:E27D	E	+	3	2	CHRNG	233112971	0.064000	0.20934	0.874000	0.34290	0.956000	0.61745	0.184000	0.16939	-0.524000	0.06400	-0.404000	0.06349	GAG		0.632	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		17	51	1	0	1.67942e-08	1	1.73241e-08	17	51				
TAF10	6881	broad.mit.edu	37	11	6632999	6632999	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:6632999C>A	ENST00000299424.4	-	2	760	c.283G>T	c.(283-285)Ggg>Tgg	p.G95W	TAF10_ENST00000531760.1_5'UTR|RP11-732A19.2_ENST00000527398.1_RNA	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	95					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACGTAAACCCCGTTAGATATG	0.647																																						ENST00000299424.4																			0											c.(283-285)Ggg>Tgg		TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa							23.0	28.0	26.0					11																	6632999		2201	4295	6496	SO:0001583	missense	6881				histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity	g.chr11:6632999C>A	U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"""	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.283G>T	11.37:g.6632999C>A	ENSP00000299424:p.Gly95Trp					TAF10_ENST00000531760.1_5'UTR	p.G95W	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)	2	760	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)	95					O00703|Q13175|Q6FH13	Missense_Mutation	SNP	ENST00000299424.4	37	c.283G>T	CCDS7769.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978578	0.92982	.	.	ENSG00000166337	ENST00000299424	T	0.50001	0.76	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.60573	0.2279	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63523	-0.6618	10	0.87932	D	0	-11.3591	15.5561	0.76196	0.0:1.0:0.0:0.0	.	95	Q12962	TAF10_HUMAN	W	95	ENSP00000299424:G95W	ENSP00000299424:G95W	G	-	1	0	TAF10	6589575	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.531000	0.73820	2.524000	0.85096	0.561000	0.74099	GGG		0.647	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257259.2	NM_006284		8	23	1	0	5.18039e-06	1	5.29904e-06	8	23				
LUZP1	7798	broad.mit.edu	37	1	23419686	23419686	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:23419686C>T	ENST00000302291.4	-	4	1870	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	LUZP1_ENST00000374623.3_Missense_Mutation_p.E357K|LUZP1_ENST00000314174.5_Missense_Mutation_p.E357K|LUZP1_ENST00000418342.1_Missense_Mutation_p.E357K			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	357					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCTTCTACCTCTCCATTTTCT	0.418																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(1069-1071)Gag>Aag		leucine zipper protein 1							186.0	182.0	184.0					1																	23419686		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23419686C>T	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1069G>A	1.37:g.23419686C>T	ENSP00000303758:p.Glu357Lys					LUZP1_ENST00000374623.3_Missense_Mutation_p.E357K|LUZP1_ENST00000418342.1_Missense_Mutation_p.E357K|LUZP1_ENST00000314174.5_Missense_Mutation_p.E357K	p.E357K			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	1870	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	357					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.1069G>A	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514723	0.44763	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.19532	2.36;2.36;2.36;2.14	6.08	6.08	0.98989	.	0.132495	0.34268	N	0.004118	T	0.27594	0.0678	L	0.58101	1.795	0.24646	N	0.993542	B;B	0.25441	0.126;0.126	B;B	0.23419	0.027;0.046	T	0.11966	-1.0566	10	0.54805	T	0.06	.	19.6516	0.95815	0.0:1.0:0.0:0.0	.	357;357	Q86V48-2;Q86V48	.;LUZP1_HUMAN	K	357	ENSP00000393460:E357K;ENSP00000363752:E357K;ENSP00000303758:E357K;ENSP00000313705:E357K	ENSP00000303758:E357K	E	-	1	0	LUZP1	23292273	0.989000	0.36119	0.996000	0.52242	0.899000	0.52679	3.608000	0.54109	2.894000	0.99253	0.655000	0.94253	GAG		0.418	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		29	58	0	0	0	1	0	29	58				
STK33	65975	broad.mit.edu	37	11	8479020	8479020	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:8479020A>G	ENST00000447869.1	-	5	1483	c.565T>C	c.(565-567)Tac>Cac	p.Y189H	STK33_ENST00000534493.1_Missense_Mutation_p.Y148H|STK33_ENST00000358872.3_Missense_Mutation_p.Y2H|STK33_ENST00000315204.1_Missense_Mutation_p.Y189H|STK33_ENST00000396673.1_Missense_Mutation_p.Y189H|STK33_ENST00000396672.1_Missense_Mutation_p.Y189H			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		ATCACAAGGTACATTTTCTGA	0.338																																						ENST00000447869.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23						c.(565-567)Tac>Cac		serine/threonine kinase 33							86.0	84.0	84.0					11																	8479020		2201	4295	6496	SO:0001583	missense	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8479020A>G	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.565T>C	11.37:g.8479020A>G	ENSP00000416750:p.Tyr189His					STK33_ENST00000396672.1_Missense_Mutation_p.Y189H|STK33_ENST00000534493.1_Missense_Mutation_p.Y148H|STK33_ENST00000396673.1_Missense_Mutation_p.Y189H|STK33_ENST00000315204.1_Missense_Mutation_p.Y189H|STK33_ENST00000358872.3_Missense_Mutation_p.Y2H	p.Y189H			Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	5	1483	-			189			Protein kinase.		Q658S6|Q8NEF5	Missense_Mutation	SNP	ENST00000447869.1	37	c.565T>C	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057389	0.76074	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000534493;ENST00000524760;ENST00000418597;ENST00000422559	T;T;T;T;T;T;T;D;D	0.85258	1.71;1.71;1.71;1.71;1.71;1.71;1.58;-1.96;-1.96	5.01	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.134141	0.52532	D	0.000072	D	0.89870	0.6840	L	0.58101	1.795	0.48901	D	0.999729	D	0.89917	1.0	D	0.85130	0.997	D	0.88732	0.3237	10	0.34782	T	0.22	.	13.2905	0.60269	1.0:0.0:0.0:0.0	.	189	Q9BYT3	STK33_HUMAN	H	189;189;189;2;189;148;101;148;148	ENSP00000416750:Y189H;ENSP00000320754:Y189H;ENSP00000379905:Y189H;ENSP00000351743:Y2H;ENSP00000379906:Y189H;ENSP00000436418:Y148H;ENSP00000436905:Y101H;ENSP00000391362:Y148H;ENSP00000411510:Y148H	ENSP00000320754:Y189H	Y	-	1	0	STK33	8435596	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.568000	0.82369	1.885000	0.54596	0.377000	0.23210	TAC		0.338	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		16	41	0	0	0	1	0	16	41				
PPFIA1	8500	broad.mit.edu	37	11	70224303	70224303	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:70224303T>C	ENST00000253925.7	+	26	3765		c.e26+2		AP000487.5_ENST00000500185.2_RNA|AP000487.5_ENST00000530690.1_RNA|AP000487.5_ENST00000524619.1_RNA|PPFIA1_ENST00000530548.1_Splice_Site|PPFIA1_ENST00000389547.3_Silent_p.G1184G	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1						cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGATGGACGGTATGTGATGGG	0.463																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.e26+2		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							114.0	99.0	105.0					11																	70224303		2200	4294	6494	SO:0001630	splice_region_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70224303T>C	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.3550+2T>C	11.37:g.70224303T>C						PPFIA1_ENST00000389547.3_Silent_p.G1184G|AP000487.5_ENST00000530690.1_RNA|AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000530548.1_Splice_Site		NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		26	3765	+								A6NLE3|Q13135|Q14567|Q8N4I2	Splice_Site	SNP	ENST00000253925.7	37		CCDS31627.1	.	.	.	.	.	.	.	.	.	.	T	14.69	2.609898	0.46527	.	.	ENSG00000131626	ENST00000253925;ENST00000544950;ENST00000528853	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9146	0.63890	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPFIA1	69901951	1.000000	0.71417	0.957000	0.39632	0.490000	0.33462	7.633000	0.83260	1.704000	0.51252	0.459000	0.35465	.		0.463	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626	Intron	21	71	0	0	0	1	0	21	71				
MYO1D	4642	broad.mit.edu	37	17	30821922	30821922	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:30821922T>C	ENST00000318217.5	-	22	3180	c.2876A>G	c.(2875-2877)cAc>cGc	p.H959R	RP11-466A19.1_ENST00000581360.1_RNA|MYO1D_ENST00000394649.4_Missense_Mutation_p.H871R	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	959	Myosin tail. {ECO:0000255}.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CACTTGAAGGTGGCGCTTCTC	0.622																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2875-2877)cAc>cGc		myosin ID							137.0	93.0	108.0					17																	30821922		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:30821922T>C	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2876A>G	17.37:g.30821922T>C	ENSP00000324527:p.His959Arg					MYO1D_ENST00000394649.4_Missense_Mutation_p.H871R	p.H959R	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		22	3180	-			959					A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.2876A>G	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	T	9.374	1.071136	0.20147	.	.	ENSG00000176658	ENST00000318217;ENST00000394649	T	0.35048	1.33	4.4	4.4	0.53042	Myosin tail 2 (1);	0.000000	0.33670	U	0.004680	T	0.13286	0.0322	N	0.02539	-0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12604	-1.0541	10	0.15066	T	0.55	.	8.2523	0.31735	0.0:0.0:0.2016:0.7984	.	959	O94832	MYO1D_HUMAN	R	959;151	ENSP00000324527:H959R	ENSP00000324527:H959R	H	-	2	0	MYO1D	27846035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.387000	0.34430	1.974000	0.57490	0.533000	0.62120	CAC		0.622	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			17	73	0	0	0	1	0	17	73				
PCDHGB7	56099	broad.mit.edu	37	5	140799272	140799272	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140799272C>A	ENST00000398594.2	+	1	1846	c.1846C>A	c.(1846-1848)Ctc>Atc	p.L616I	PCDHGA11_ENST00000518882.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	616	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCCCGGGCTCTTCAGCCT	0.662																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1846-1848)Ctc>Atc									42.0	48.0	46.0					5																	140799272		2184	4284	6468	SO:0001583	missense	56099							g.chr5:140799272C>A	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1846C>A	5.37:g.140799272C>A	ENSP00000381594:p.Leu616Ile					PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron	p.L616I	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1846	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1846C>A	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	16.40	3.113079	0.56398	.	.	ENSG00000254122	ENST00000398594	T	0.51325	0.71	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.000000	0.29684	U	0.011475	T	0.71256	0.3318	M	0.79805	2.47	0.35007	D	0.756551	D;D	0.63880	0.993;0.982	D;P	0.67382	0.951;0.767	T	0.79867	-0.1622	10	0.72032	D	0.01	.	19.1659	0.93557	0.0:1.0:0.0:0.0	.	616;616	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	I	616	ENSP00000381594:L616I	ENSP00000381594:L616I	L	+	1	0	PCDHGB7	140779456	0.979000	0.34478	0.996000	0.52242	0.190000	0.23558	2.658000	0.46733	2.619000	0.88677	0.491000	0.48974	CTC		0.662	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		44	124	1	0	2.13384e-23	1	2.25745e-23	44	124				
NLRP12	91662	broad.mit.edu	37	19	54308536	54308536	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54308536A>G	ENST00000324134.6	-	5	2580	c.2412T>C	c.(2410-2412)atT>atC	p.I804I	NLRP12_ENST00000351894.4_Silent_p.I804I|NLRP12_ENST00000345770.5_Silent_p.I805I|NLRP12_ENST00000391775.3_Silent_p.I804I|NLRP12_ENST00000391772.1_Silent_p.I805I|NLRP12_ENST00000535162.1_Silent_p.I804I|NLRP12_ENST00000391773.1_Silent_p.I805I|NLRP12_ENST00000354278.3_Silent_p.I804I	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	804					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGACTCACTGAATCATCTGCA	0.507																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(2410-2412)atT>atC		NLR family, pyrin domain containing 12							66.0	66.0	66.0					19																	54308536		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54308536A>G	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2412T>C	19.37:g.54308536A>G						NLRP12_ENST00000354278.3_Silent_p.I804I|NLRP12_ENST00000351894.4_Silent_p.I804I|NLRP12_ENST00000345770.5_Silent_p.I805I|NLRP12_ENST00000391772.1_Silent_p.I805I|NLRP12_ENST00000391773.1_Silent_p.I805I|NLRP12_ENST00000535162.1_Silent_p.I804I|NLRP12_ENST00000391775.3_Silent_p.I804I	p.I804I	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	5	2580	-	Ovarian(34;0.19)		804					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.2412T>C	CCDS12864.1																																																																																				0.507	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		24	99	0	0	0	1	0	24	99				
ZNF70	7621	broad.mit.edu	37	22	24086066	24086066	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:24086066C>T	ENST00000341976.3	-	2	1722	c.1262G>A	c.(1261-1263)tGc>tAc	p.C421Y		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	421					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GCACAGATTGCACACGTAGGG	0.557																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(1261-1263)tGc>tAc		zinc finger protein 70							116.0	114.0	114.0					22																	24086066		2203	4300	6503	SO:0001583	missense	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24086066C>T	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.1262G>A	22.37:g.24086066C>T	ENSP00000339314:p.Cys421Tyr						p.C421Y	NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN			2	1722	-			421						Missense_Mutation	SNP	ENST00000341976.3	37	c.1262G>A	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777814	0.70107	.	.	ENSG00000187792	ENST00000341976	D	0.85088	-1.94	3.27	3.27	0.37495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93562	0.7945	M	0.93462	3.42	0.40374	D	0.979374	D	0.89917	1.0	D	0.87578	0.998	D	0.94946	0.8095	9	0.87932	D	0	.	12.8811	0.58017	0.0:1.0:0.0:0.0	.	421	Q9UC06	ZNF70_HUMAN	Y	421	ENSP00000339314:C421Y	ENSP00000339314:C421Y	C	-	2	0	ZNF70	22416066	1.000000	0.71417	0.831000	0.32960	0.965000	0.64279	7.217000	0.77982	2.163000	0.67991	0.555000	0.69702	TGC		0.557	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		5	232	0	0	0	1	0	5	232				
ANXA2R	389289	broad.mit.edu	37	5	43039613	43039613	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:43039613A>G	ENST00000314890.3	-	2	1955	c.536T>C	c.(535-537)gTa>gCa	p.V179A	AC025171.1_ENST00000451894.2_RNA|AC025171.1_ENST00000505541.1_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	179																	CGCCCAGAGTACAGAGAACGC	0.557											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000314890.3																			0											c.(535-537)gTa>gCa		annexin A2 receptor							84.0	87.0	86.0					5																	43039613		2203	4300	6503	SO:0001583	missense	389289						receptor activity	g.chr5:43039613A>G	BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"""chromosome 5 open reading frame 39"""	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232	ENST00000314890.3:c.536T>C	5.37:g.43039613A>G	ENSP00000315915:p.Val179Ala		OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913		p.V179A	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN			2	1955	-			179					Q8NHX5	Missense_Mutation	SNP	ENST00000314890.3	37	c.536T>C	CCDS34153.1	.	.	.	.	.	.	.	.	.	.	A	8.590	0.884334	0.17467	.	.	ENSG00000177721	ENST00000314890	T	0.35048	1.33	2.56	-3.25	0.05079	.	.	.	.	.	T	0.18718	0.0449	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.21655	-1.0239	9	0.62326	D	0.03	.	3.1021	0.06329	0.4976:0.0:0.3123:0.1902	.	179	Q3ZCQ2	AX2R_HUMAN	A	179	ENSP00000315915:V179A	ENSP00000315915:V179A	V	-	2	0	C5orf39	43075370	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.018000	0.13422	-0.740000	0.04803	-0.242000	0.12053	GTA		0.557	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368030.1	NM_001014279		25	131	0	0	0	1	0	25	131				
TCEA1	6917	broad.mit.edu	37	8	54883013	54883013	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:54883013C>T	ENST00000521604.2	-	9	1239	c.836G>A	c.(835-837)cGt>cAt	p.R279H	TCEA1_ENST00000396401.3_Missense_Mutation_p.R258H|TCEA1_ENST00000522635.1_Missense_Mutation_p.R95H|TCEA1_ENST00000521086.2_5'UTR	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	279					DNA repair (GO:0006281)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of DNA-templated transcription, elongation (GO:0032784)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			ATCAGCACTACGGGTTTGTAC	0.303			T	PLAG1	salivary adenoma																																	ENST00000521604.2				Dom	yes		8	8q11.2	6917	T	"""transcription elongation factor A (SII), 1"""			E	PLAG1		salivary adenoma		0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(835-837)cGt>cAt		transcription elongation factor A (SII), 1							85.0	75.0	78.0					8																	54883013		1833	4081	5914	SO:0001583	missense	6917				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding	g.chr8:54883013C>T	X62585	CCDS47857.1, CCDS47858.1	8q11.2	2011-01-25			ENSG00000187735	ENSG00000187735		"""General transcription factors"""	11612	protein-coding gene	gene with protein product		601425		TCEA, GTF2S		8812434, 8112616	Standard	NM_006756		Approved	SII, TF2S, TFIIS	uc003xru.3	P23193	OTTHUMG00000164262	ENST00000521604.2:c.836G>A	8.37:g.54883013C>T	ENSP00000428426:p.Arg279His					TCEA1_ENST00000521086.2_5'UTR|TCEA1_ENST00000522635.1_Missense_Mutation_p.R95H|TCEA1_ENST00000396401.3_Missense_Mutation_p.R258H	p.R279H	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)		9	1239	-		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	279					A6NF25|A8K339|Q15563|Q6FG87	Missense_Mutation	SNP	ENST00000521604.2	37	c.836G>A	CCDS47858.1	.	.	.	.	.	.	.	.	.	.	C	34	5.327377	0.95708	.	.	ENSG00000187735	ENST00000396401;ENST00000521604;ENST00000522635	.	.	.	4.9	4.9	0.64082	Zinc finger, TFIIS-type (4);	0.000000	0.85682	D	0.000000	D	0.91345	0.7270	H	0.99182	4.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.987;0.997	D	0.95161	0.8281	9	0.87932	D	0	-15.4971	18.4641	0.90749	0.0:1.0:0.0:0.0	.	95;258;279	B7Z4S1;P23193-2;P23193	.;.;TCEA1_HUMAN	H	258;279;95	.	ENSP00000395483:R258H	R	-	2	0	TCEA1	55045566	1.000000	0.71417	0.977000	0.42913	0.997000	0.91878	7.776000	0.85560	2.442000	0.82660	0.591000	0.81541	CGT		0.303	TCEA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377975.2	NM_006756		11	16	0	0	0	1	0	11	16				
LRRK1	79705	broad.mit.edu	37	15	101523854	101523854	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:101523854C>T	ENST00000388948.3	+	4	742	c.383C>T	c.(382-384)gCg>gTg	p.A128V	LRRK1_ENST00000284395.5_Missense_Mutation_p.A101V|LRRK1_ENST00000532029.2_Missense_Mutation_p.A128V	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGGTGGCAGCGTATTTTGGA	0.567																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(301-303)gCg>gTg		leucine-rich repeat kinase 1							86.0	87.0	86.0					15																	101523854		2024	4177	6201	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101523854C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.383C>T	15.37:g.101523854C>T	ENSP00000373600:p.Ala128Val					LRRK1_ENST00000388948.3_Missense_Mutation_p.A128V|LRRK1_ENST00000532029.2_Missense_Mutation_p.A128V	p.A101V			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		4	702	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		128						Missense_Mutation	SNP	ENST00000388948.3	37	c.302C>T	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836722	0.71373	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	T;T;T	0.70516	-0.49;-0.49;-0.49	5.71	5.71	0.89125	Ankyrin repeat-containing domain (4);	0.145674	0.45126	D	0.000396	T	0.75532	0.3862	M	0.69463	2.115	0.23192	N	0.998148	D;D	0.69078	0.96;0.997	P;P	0.54100	0.448;0.742	T	0.69764	-0.5057	10	0.02654	T	1	.	18.8439	0.92196	0.0:1.0:0.0:0.0	.	128;128	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	V	128;101;128	ENSP00000373600:A128V;ENSP00000284395:A101V;ENSP00000433268:A128V	ENSP00000284395:A101V	A	+	2	0	LRRK1	99341377	0.998000	0.40836	0.031000	0.17742	0.142000	0.21351	6.366000	0.73095	2.688000	0.91661	0.591000	0.81541	GCG		0.567	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		15	76	0	0	0	1	0	15	76				
OR4X1	390113	broad.mit.edu	37	11	48286062	48286062	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:48286062T>C	ENST00000320048.1	+	1	650	c.650T>C	c.(649-651)cTg>cCg	p.L217P		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GCTTCCTACCTGATCATCCTG	0.542																																						ENST00000320048.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						c.(649-651)cTg>cCg		olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)							130.0	107.0	115.0					11																	48286062		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48286062T>C	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.650T>C	11.37:g.48286062T>C	ENSP00000321506:p.Leu217Pro						p.L217P	NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN			1	650	+			217					Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.650T>C	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	T	9.383	1.073544	0.20147	.	.	ENSG00000176567	ENST00000320048	T	0.00169	8.63	4.5	0.235	0.15431	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	L	0.51422	1.61	0.38141	D	0.938452	P	0.38745	0.645	B	0.39258	0.295	T	0.78443	-0.2202	9	0.66056	D	0.02	.	5.0717	0.14609	0.0:0.1531:0.1709:0.6761	.	217	Q8NH49	OR4X1_HUMAN	P	217	ENSP00000321506:L217P	ENSP00000321506:L217P	L	+	2	0	OR4X1	48242638	0.000000	0.05858	0.998000	0.56505	0.205000	0.24178	-0.067000	0.11579	0.245000	0.21373	0.460000	0.39030	CTG		0.542	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		4	84	0	0	0	1	0	4	84				
PAOX	196743	broad.mit.edu	37	10	135202471	135202471	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:135202471T>C	ENST00000278060.5	+	5	1216	c.1133T>C	c.(1132-1134)gTt>gCt	p.V378A	PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Missense_Mutation_p.V378A|PAOX_ENST00000368539.4_3'UTR|RP11-108K14.8_ENST00000468317.2_5'Flank|PAOX_ENST00000480071.2_Missense_Mutation_p.F294L	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	516					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TCTGTCCACGTTCTCTGTGGG	0.537																																						ENST00000278060.5																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23						c.(1132-1134)gTt>gCt		polyamine oxidase (exo-N4-amino)							329.0	335.0	333.0					10																	135202471		2203	4300	6503	SO:0001583	missense	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135202471T>C	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.1133T>C	10.37:g.135202471T>C	ENSP00000278060:p.Val378Ala					PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000480071.2_Missense_Mutation_p.F294L|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Missense_Mutation_p.V378A	p.V378A	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	5	1216	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	516					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	ENST00000278060.5	37	c.1133T>C	CCDS7683.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	14.80|14.80	2.643178|2.643178	0.47153|0.47153	.|.	.|.	ENSG00000148832|ENSG00000148832	ENST00000480071|ENST00000368542;ENST00000368538;ENST00000278060;ENST00000357296	T|D;D	0.09073|0.94687	3.02|-3.49;-3.49	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.184175	.|0.46758	.|D	.|0.000270	D|D	0.96778|0.96778	0.8948|0.8948	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|D;D	0.25904|0.71674	0.137|0.986;0.998	B|D;D	0.25140|0.65140	0.058|0.932;0.919	D|D	0.97196|0.97196	0.9861|0.9861	8|9	0.25751|0.72032	T|D	0.34|0.01	-40.6989|-40.6989	13.6352|13.6352	0.62219|0.62219	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	294|378;378	Q6QHF9-5|Q6QHF9-4;Q6QHF9-2	.|.;.	L|A	294|330;99;378;378	ENSP00000435514:F294L|ENSP00000278060:V378A;ENSP00000349847:V378A	ENSP00000348654:F294L|ENSP00000278060:V378A	F|V	+|+	1|2	0|0	PAOX|PAOX	135052461|135052461	1.000000|1.000000	0.71417|0.71417	0.930000|0.930000	0.37139|0.37139	0.842000|0.842000	0.47809|0.47809	7.489000|7.489000	0.81451|0.81451	2.097000|2.097000	0.63578|0.63578	0.533000|0.533000	0.62120|0.62120	TTC|GTT		0.537	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		29	543	0	0	0	1	0	29	543				
FBN2	2201	broad.mit.edu	37	5	127681179	127681179	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:127681179G>A	ENST00000508053.1	-	30	4061	c.3087C>T	c.(3085-3087)gtC>gtT	p.V1029V	FBN2_ENST00000508989.1_Silent_p.V996V|FBN2_ENST00000262464.4_Silent_p.V1029V			P35556	FBN2_HUMAN	fibrillin 2	1029	TB 5.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAGCCGCCCCGACAGCACAGC	0.592																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(3085-3087)gtC>gtT		fibrillin 2							83.0	81.0	81.0					5																	127681179		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127681179G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3087C>T	5.37:g.127681179G>A						FBN2_ENST00000508989.1_Silent_p.V996V|FBN2_ENST00000262464.4_Silent_p.V1029V	p.V1029V			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	30	4061	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1029			TB 5.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.3087C>T	CCDS34222.1																																																																																				0.592	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		51	144	0	0	0	1	0	51	144				
MEFV	4210	broad.mit.edu	37	16	3294277	3294277	+	Missense_Mutation	SNP	C	C	T	rs574055513	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3294277C>T	ENST00000219596.1	-	8	1775	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	MEFV_ENST00000339854.4_Missense_Mutation_p.R399H|MEFV_ENST00000541159.1_Missense_Mutation_p.R368H|MEFV_ENST00000536379.1_Missense_Mutation_p.R368H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	579	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.R579H(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CATTTCTGAACGCAGGGTTTC	0.532													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19511	0.0		0.001	False		,,,				2504	0.0					ENST00000219596.1																			1	Substitution - Missense(1)	p.R579H(1)	breast(1)	NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1735-1737)cGt>cAt		Mediterranean fever	Colchicine(DB01394)						89.0	71.0	77.0					16																	3294277		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3294277C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1736G>A	16.37:g.3294277C>T	ENSP00000219596:p.Arg579His					MEFV_ENST00000536379.1_Missense_Mutation_p.R368H|MEFV_ENST00000339854.4_Missense_Mutation_p.R399H|MEFV_ENST00000541159.1_Missense_Mutation_p.R368H	p.R579H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			8	1775	-			579					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.1736G>A	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160394	0.38119	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.65549	-0.16;0.27;0.22;0.28	5.76	-0.192	0.13248	.	0.893166	0.09583	N	0.782537	T	0.69726	0.3143	M	0.63428	1.95	0.09310	N	1	D	0.89917	1.0	D	0.64410	0.925	T	0.56511	-0.7967	10	0.56958	D	0.05	-34.2322	5.1637	0.15075	0.1384:0.5272:0.0:0.3344	.	579	O15553	MEFV_HUMAN	H	579;579;399;368;368;368	ENSP00000219596:R579H;ENSP00000339639:R399H;ENSP00000438711:R368H;ENSP00000445079:R368H	ENSP00000219596:R579H	R	-	2	0	MEFV	3234278	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.192000	0.17096	0.091000	0.17302	-1.149000	0.01842	CGT		0.532	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		14	32	0	0	0	1	0	14	32				
HRH2	3274	broad.mit.edu	37	5	175110376	175110376	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:175110376G>A	ENST00000231683.2	+	1	1913	c.140G>A	c.(139-141)cGc>cAc	p.R47H	HRH2_ENST00000377291.2_Missense_Mutation_p.R47H	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	47					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	GGCTTGAACCGCCGGCTCCGC	0.587																																						ENST00000231683.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(139-141)cGc>cAc		histamine receptor H2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						191.0	163.0	173.0					5																	175110376		2203	4300	6503	SO:0001583	missense	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110376G>A		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.140G>A	5.37:g.175110376G>A	ENSP00000231683:p.Arg47His					HRH2_ENST00000377291.2_Missense_Mutation_p.R47H	p.R47H	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	1913	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	47					B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.140G>A	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076119	0.94000	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.41065	1.01;1.01	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.064888	0.64402	D	0.000005	T	0.68668	0.3026	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.982;0.994	T	0.73742	-0.3887	10	0.87932	D	0	.	18.0413	0.89319	0.0:0.0:1.0:0.0	.	47;47	P25021;Q7Z5R9	HRH2_HUMAN;.	H	47	ENSP00000366506:R47H;ENSP00000231683:R47H	ENSP00000231683:R47H	R	+	2	0	HRH2	175042982	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.876000	0.87215	2.519000	0.84933	0.462000	0.41574	CGC		0.587	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			65	112	0	0	0	1	0	65	112				
ADAM28	10863	broad.mit.edu	37	8	24193018	24193018	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:24193018G>A	ENST00000265769.4	+	14	1541	c.1431G>A	c.(1429-1431)atG>atA	p.M477I	ADAM28_ENST00000540823.1_Missense_Mutation_p.M244I|ADAM28_ENST00000437154.2_Missense_Mutation_p.M477I|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.M224I|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	477	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCCTGAAATGTGTAATGGTA	0.453																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1429-1431)atG>atA		ADAM metallopeptidase domain 28							143.0	132.0	136.0					8																	24193018		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24193018G>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1431G>A	8.37:g.24193018G>A	ENSP00000265769:p.Met477Ile					RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.M224I|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.M477I|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.M244I	p.M477I	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	14	1541	+		Prostate(55;0.0959)	477			Disintegrin.		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.1431G>A	CCDS34865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.60|11.60	1.688351|1.688351	0.29962|0.29962	.|.	.|.	ENSG00000042980|ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154|ENST00000521629	T;T;T;T|.	0.10668|.	2.85;2.85;2.85;2.85|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Blood coagulation inhibitor, Disintegrin (6);|.	.|.	.|.	.|.	.|.	T|T	0.65698|0.65698	0.2716|0.2716	L|L	0.52011|0.52011	1.625|1.625	0.36338|0.36338	D|D	0.859329|0.859329	B;P;P;B|.	0.35684|.	0.24;0.515;0.515;0.202|.	B;B;B;B|.	0.36608|.	0.209;0.229;0.229;0.132|.	T|T	0.67473|0.67473	-0.5662|-0.5662	9|5	0.51188|.	T|.	0.08|.	.|.	17.5525|17.5525	0.87880|0.87880	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	244;477;477;477|.	B4DDY3;B2RMV5;Q9UKQ2;Q9UKQ2-2|.	.;.;ADA28_HUMAN;.|.	I|M	477;224;244;477|110	ENSP00000265769:M477I;ENSP00000380770:M224I;ENSP00000443743:M244I;ENSP00000393699:M477I|.	ENSP00000265769:M477I|.	M|V	+|+	3|1	0|0	ADAM28|ADAM28	24248963|24248963	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.837000|0.837000	0.47467|0.47467	1.706000|1.706000	0.37878|0.37878	2.741000|2.741000	0.93983|0.93983	0.650000|0.650000	0.86243|0.86243	ATG|GTG		0.453	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		10	44	0	0	0	1	0	10	44				
PCDHB7	56129	broad.mit.edu	37	5	140554771	140554771	+	Silent	SNP	C	C	T	rs532026348		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140554771C>T	ENST00000231137.3	+	1	2529	c.2355C>T	c.(2353-2355)cgC>cgT	p.R785R	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	785					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGAAAATCGCCCATTTCAGA	0.448																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2353-2355)cgC>cgT									53.0	78.0	70.0					5																	140554771		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554771C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2355C>T	5.37:g.140554771C>T							p.R785R	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2529	+			785					A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.2355C>T	CCDS4249.1																																																																																				0.448	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		12	413	0	0	0	1	0	12	413				
ZNF684	127396	broad.mit.edu	37	1	41012511	41012511	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:41012511T>C	ENST00000372699.3	+	5	767	c.516T>C	c.(514-516)ttT>ttC	p.F172F	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	172					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(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			AAAAGAAGTTTCATTTCATTA	0.348																																						ENST00000372699.3																			0				breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(514-516)ttT>ttC		zinc finger protein 684							39.0	42.0	41.0					1																	41012511		2199	4300	6499	SO:0001819	synonymous_variant	127396				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:41012511T>C		CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"""Zinc fingers, C2H2-type"", ""-"""	28418	protein-coding gene	gene with protein product	"""hypothetical protein MGC27466"""					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.516T>C	1.37:g.41012511T>C						ZNF684_ENST00000493756.1_3'UTR	p.F172F	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)		5	767	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	172					Q2NKY4	Silent	SNP	ENST00000372699.3	37	c.516T>C	CCDS454.1																																																																																				0.348	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019260.3	NM_152373		18	50	0	0	0	1	0	18	50				
SLMO2	51012	broad.mit.edu	37	20	57613590	57613590	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:57613590A>C	ENST00000355937.4	-	2	310	c.132T>G	c.(130-132)gaT>gaG	p.D44E	SLMO2_ENST00000371033.5_Missense_Mutation_p.D44E	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	44	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			TTCCAGAGGGATCTATATGTC	0.483																																						ENST00000355937.4																			0				endometrium(1)|lung(2)|skin(2)	5						c.(130-132)gaT>gaG		slowmo homolog 2 (Drosophila)							119.0	113.0	115.0					20																	57613590		1931	4131	6062	SO:0001583	missense	51012							g.chr20:57613590A>C	AF151865	CCDS42893.1, CCDS58783.1	20q13.32	2008-10-22	2007-02-06	2007-02-06	ENSG00000101166	ENSG00000101166			15892	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 45"""	C20orf45			Standard	NM_016045		Approved	dJ543J19.5, PRELID3B	uc002yam.3	Q9Y3B1	OTTHUMG00000032856	ENST00000355937.4:c.132T>G	20.37:g.57613590A>C	ENSP00000348206:p.Asp44Glu					SLMO2_ENST00000371033.5_Missense_Mutation_p.D44E	p.D44E	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	Colorectal(105;0.109)		2	310	-	all_lung(29;0.00711)		44			PRELI/MSF1.		E1P5I8|Q5JX17|Q9NUL0	Missense_Mutation	SNP	ENST00000355937.4	37	c.132T>G	CCDS42893.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096559	0.56075	.	.	ENSG00000101166	ENST00000355937;ENST00000371033	T;T	0.17370	2.28;2.28	5.36	0.502	0.16932	PRELI/MSF1 (2);	0.046415	0.85682	D	0.000000	T	0.39436	0.1078	M	0.90814	3.15	0.49213	D	0.999767	D;P	0.61080	0.989;0.835	P;P	0.59643	0.861;0.612	T	0.33574	-0.9863	10	0.41790	T	0.15	-11.7417	10.7348	0.46117	0.5137:0.0:0.4863:0.0	.	44;44	Q5JX17;Q9Y3B1	.;SLMO2_HUMAN	E	44	ENSP00000348206:D44E;ENSP00000360072:D44E	ENSP00000348206:D44E	D	-	3	2	SLMO2	57046985	0.778000	0.28640	0.695000	0.30226	0.727000	0.41649	0.465000	0.22004	-0.111000	0.12001	0.533000	0.62120	GAT		0.483	SLMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079897.2	NM_016045		14	175	0	0	0	1	0	14	175				
MISP	126353	broad.mit.edu	37	19	757839	757839	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:757839G>A	ENST00000215582.6	+	2	996	c.893G>A	c.(892-894)cGt>cAt	p.R298H		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	298					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CGGGAGATCCGTCTGGCTCAG	0.672																																						ENST00000215582.6																			0											c.(892-894)cGt>cAt		mitotic spindle positioning							40.0	44.0	43.0					19																	757839		2203	4298	6501	SO:0001583	missense	126353							g.chr19:757839G>A	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.893G>A	19.37:g.757839G>A	ENSP00000215582:p.Arg298His						p.R298H	NM_173481.2	NP_775752.1					2	996	+									Missense_Mutation	SNP	ENST00000215582.6	37	c.893G>A	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610216	0.87258	.	.	ENSG00000099812	ENST00000215582	T	0.54866	0.55	4.38	4.38	0.52667	.	0.202372	0.32473	N	0.006041	T	0.68833	0.3044	M	0.64997	1.995	0.46564	D	0.999105	D	0.89917	1.0	D	0.87578	0.998	T	0.72991	-0.4123	10	0.87932	D	0	-10.3933	14.0474	0.64712	0.0:0.0:1.0:0.0	.	298	Q8IVT2	CS021_HUMAN	H	298	ENSP00000215582:R298H	ENSP00000215582:R298H	R	+	2	0	C19orf21	708839	1.000000	0.71417	0.884000	0.34674	0.837000	0.47467	7.594000	0.82698	1.990000	0.58119	0.491000	0.48974	CGT		0.672	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		27	79	0	0	0	1	0	27	79				
NOSTRIN	115677	broad.mit.edu	37	2	169718498	169718498	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:169718498A>G	ENST00000317647.7	+	15	1552	c.1323A>G	c.(1321-1323)agA>agG	p.R441R	NOSTRIN_ENST00000458381.2_Silent_p.R498R|NOSTRIN_ENST00000397206.2_Silent_p.R363R|NOSTRIN_ENST00000444448.2_Silent_p.R498R|NOSTRIN_ENST00000421711.2_Silent_p.R413R|NOSTRIN_ENST00000445023.2_Silent_p.R363R|NOSTRIN_ENST00000397209.2_Silent_p.R413R	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	441	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TCAGCAGCAGACTTTGCAAGG	0.408																																						ENST00000444448.2																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(1492-1494)agA>agG		nitric oxide synthase trafficking							108.0	105.0	106.0					2																	169718498		1880	4117	5997	SO:0001819	synonymous_variant	115677				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding	g.chr2:169718498A>G	AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.1323A>G	2.37:g.169718498A>G						NOSTRIN_ENST00000397206.2_Silent_p.R363R|NOSTRIN_ENST00000397209.2_Silent_p.R413R|NOSTRIN_ENST00000317647.7_Silent_p.R441R|NOSTRIN_ENST00000445023.2_Silent_p.R363R|NOSTRIN_ENST00000421711.2_Silent_p.R413R|NOSTRIN_ENST00000458381.2_Silent_p.R498R	p.R498R			Q8IVI9	NOSTN_HUMAN			18	1970	+			441					A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Silent	SNP	ENST00000317647.7	37	c.1494A>G	CCDS42771.1																																																																																				0.408	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4	NM_052946		9	97	0	0	0	1	0	9	97				
PEBP4	157310	broad.mit.edu	37	8	22785223	22785223	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:22785223C>T	ENST00000256404.6	-	2	96	c.5G>A	c.(4-6)gGt>gAt	p.G2D	PEBP4_ENST00000521284.1_5'UTR	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	2						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		CATTGTCCAACCCATGGGCAC	0.612																																						ENST00000256404.6																			0				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10						c.(4-6)gGt>gAt		phosphatidylethanolamine-binding protein 4							84.0	85.0	85.0					8																	22785223		1995	4174	6169	SO:0001583	missense	157310					lysosome		g.chr8:22785223C>T	BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"""cousin-of-RKIP 1 protein"""	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.5G>A	8.37:g.22785223C>T	ENSP00000256404:p.Gly2Asp					PEBP4_ENST00000521284.1_5'UTR	p.G2D	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)	2	96	-		Prostate(55;0.0453)|Breast(100;0.103)	2					Q5EVA1|Q8WW74	Missense_Mutation	SNP	ENST00000256404.6	37	c.5G>A	CCDS43724.1	.	.	.	.	.	.	.	.	.	.	C	7.683	0.689340	0.14973	.	.	ENSG00000134020	ENST00000256404;ENST00000522278	T	0.39787	1.06	3.77	0.381	0.16228	.	1.640740	0.03366	N	0.198201	T	0.26955	0.0660	N	0.17082	0.46	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.18366	-1.0339	10	0.45353	T	0.12	-1.7297	4.0946	0.09985	0.0:0.4532:0.3149:0.2318	.	2	Q96S96	PEBP4_HUMAN	D	2;52	ENSP00000256404:G2D	ENSP00000256404:G2D	G	-	2	0	PEBP4	22841168	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.004000	0.13106	0.050000	0.15949	0.561000	0.74099	GGT		0.612	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375141.2	NM_144962		30	94	0	0	0	1	0	30	94				
GPR108	56927	broad.mit.edu	37	19	6732499	6732499	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:6732499T>C	ENST00000264080.7	-	11	1021	c.995A>G	c.(994-996)tAc>tGc	p.Y332C	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_Missense_Mutation_p.Y90C	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	332						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GTGTGCGATGTAGTACATGAC	0.627																																						ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(994-996)tAc>tGc		G protein-coupled receptor 108							73.0	75.0	74.0					19																	6732499		2092	4190	6282	SO:0001583	missense	56927					integral to membrane		g.chr19:6732499T>C		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.995A>G	19.37:g.6732499T>C	ENSP00000264080:p.Tyr332Cys					GPR108_ENST00000430424.4_Missense_Mutation_p.Y90C	p.Y332C	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			11	1021	-			332					B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	c.995A>G	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	T	14.20	2.463250	0.43736	.	.	ENSG00000125734	ENST00000264080;ENST00000430424	T	0.28666	1.6	4.02	4.02	0.46733	.	0.000000	0.56097	U	0.000030	T	0.59074	0.2167	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66031	-0.6024	10	0.87932	D	0	-8.0221	9.5235	0.39149	0.0:0.0:0.0:1.0	.	332;90	Q9NPR9;B9EK73	GP108_HUMAN;.	C	332;90	ENSP00000264080:Y332C	ENSP00000264080:Y332C	Y	-	2	0	GPR108	6683499	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	3.858000	0.55979	1.808000	0.52836	0.402000	0.26972	TAC		0.627	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			21	69	0	0	0	1	0	21	69				
GIGYF1	64599	broad.mit.edu	37	7	100279806	100279806	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100279806G>A	ENST00000275732.5	-	22	4023	c.2814C>T	c.(2812-2814)caC>caT	p.H938H	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	938					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGATATAATCGTGGACATCAT	0.597																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2812-2814)caC>caT		GRB10 interacting GYF protein 1							74.0	79.0	77.0					7																	100279806		2203	4300	6503	SO:0001819	synonymous_variant	64599							g.chr7:100279806G>A	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2814C>T	7.37:g.100279806G>A							p.H938H	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			22	4023	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		938					Q6Y7W7|Q8WZ38	Silent	SNP	ENST00000275732.5	37	c.2814C>T	CCDS34708.1																																																																																				0.597	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		41	121	0	0	0	1	0	41	121				
AP4B1	10717	broad.mit.edu	37	1	114440480	114440480	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:114440480C>G	ENST00000369569.1	-	7	1564	c.1284G>C	c.(1282-1284)gaG>gaC	p.E428D	AP4B1_ENST00000369567.1_Missense_Mutation_p.E260D|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.E428D|AP4B1_ENST00000462591.1_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	428					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTGAATGTTCTCTTCACAGC	0.468																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(1282-1284)gaG>gaC		adaptor-related protein complex 4, beta 1 subunit							116.0	105.0	109.0					1																	114440480		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114440480C>G	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1284G>C	1.37:g.114440480C>G	ENSP00000358582:p.Glu428Asp					AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.E428D|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000369567.1_Missense_Mutation_p.E260D	p.E428D	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	1564	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	428					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.1284G>C	CCDS865.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950254	0.34377	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.26223	1.75;1.75;1.75	5.52	4.6	0.57074	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.193773	0.53938	D	0.000050	T	0.03348	0.0097	N	0.04724	-0.175	0.80722	D	1	B;B;B	0.18863	0.004;0.031;0.004	B;B;B	0.23419	0.012;0.046;0.02	T	0.32428	-0.9907	10	0.02654	T	1	.	9.2319	0.37441	0.0:0.647:0.2786:0.0744	.	260;428;329	B1ALD0;Q9Y6B7;B4DTG3	.;AP4B1_HUMAN;.	D	260;428;428	ENSP00000358580:E260D;ENSP00000358582:E428D;ENSP00000256658:E428D	ENSP00000256658:E428D	E	-	3	2	AP4B1	114242003	0.985000	0.35326	1.000000	0.80357	0.992000	0.81027	0.373000	0.20484	1.315000	0.45114	0.462000	0.41574	GAG		0.468	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		30	77	0	0	0	1	0	30	77				
CCNA2	890	broad.mit.edu	37	4	122739319	122739319	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:122739319A>T	ENST00000274026.5	-	7	1433	c.1130T>A	c.(1129-1131)aTa>aAa	p.I377K		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	377					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						AGTCTTTCGTATTAATGATTC	0.408																																						ENST00000274026.5																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						c.(1129-1131)aTa>aAa		cyclin A2							172.0	162.0	165.0					4																	122739319		2203	4300	6503	SO:0001583	missense	890				cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding	g.chr4:122739319A>T		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.1130T>A	4.37:g.122739319A>T	ENSP00000274026:p.Ile377Lys						p.I377K	NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN			7	1433	-			377					A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	37	c.1130T>A	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	A	9.491	1.100807	0.20552	.	.	ENSG00000145386	ENST00000274026	T	0.19806	2.12	6.17	0.959	0.19624	Cyclin, C-terminal (1);Cyclin-like (3);	0.891166	0.09806	N	0.753406	T	0.09730	0.0239	N	0.11927	0.2	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.41270	-0.9518	10	0.09084	T	0.74	.	7.1241	0.25461	0.555:0.1219:0.3231:0.0	.	377	P20248	CCNA2_HUMAN	K	377	ENSP00000274026:I377K	ENSP00000274026:I377K	I	-	2	0	CCNA2	122958769	0.000000	0.05858	0.004000	0.12327	0.537000	0.34900	0.197000	0.17197	-0.033000	0.13736	0.533000	0.62120	ATA		0.408	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237		4	179	0	0	0	1	0	4	179				
RBMXL2	27288	broad.mit.edu	37	11	7110662	7110662	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:7110662G>A	ENST00000306904.5	+	1	498	c.311G>A	c.(310-312)cGc>cAc	p.R104H		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	104	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGCCGCGGTCGCCCGAGGTTC	0.751																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(310-312)cGc>cAc		RNA binding motif protein, X-linked-like 2							3.0	4.0	4.0					11																	7110662		1736	3441	5177	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7110662G>A	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.311G>A	11.37:g.7110662G>A	ENSP00000304139:p.Arg104His						p.R104H	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	498	+			104			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.311G>A	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	G	3.168	-0.170728	0.06421	.	.	ENSG00000170748	ENST00000306904	T	0.75367	-0.93	2.17	1.2	0.21068	.	0.291670	0.32785	U	0.005643	T	0.54111	0.1838	L	0.38733	1.17	0.22701	N	0.998832	P	0.39443	0.674	B	0.30316	0.114	T	0.45293	-0.9271	10	0.35671	T	0.21	.	6.5281	0.22312	0.0:0.3053:0.6947:0.0	.	104	O75526	HNRGT_HUMAN	H	104	ENSP00000304139:R104H	ENSP00000304139:R104H	R	+	2	0	RBMXL2	7067238	0.435000	0.25577	0.253000	0.24343	0.108000	0.19459	2.238000	0.43070	0.427000	0.26145	0.305000	0.20034	CGC		0.751	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		3	5	0	0	0	1	0	3	5				
HIP1R	9026	broad.mit.edu	37	12	123343659	123343659	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:123343659G>C	ENST00000253083.4	+	22	2335	c.2210G>C	c.(2209-2211)gGg>gCg	p.G737A		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	737					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GAGCTCATGGGGCAGCTGCAG	0.687																																						ENST00000253083.4																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(2209-2211)gGg>gCg		huntingtin interacting protein 1 related							11.0	12.0	12.0					12																	123343659		2188	4279	6467	SO:0001583	missense	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123343659G>C	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.2210G>C	12.37:g.123343659G>C	ENSP00000253083:p.Gly737Ala						p.G737A	NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	22	2335	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		737					A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	c.2210G>C	CCDS31922.1	.	.	.	.	.	.	.	.	.	.	G	9.530	1.110488	0.20714	.	.	ENSG00000130787	ENST00000253083	T	0.13778	2.56	4.94	4.0	0.46444	.	0.361200	0.35378	N	0.003254	T	0.09818	0.0241	L	0.42245	1.32	0.28533	N	0.91246	B	0.06786	0.001	B	0.06405	0.002	T	0.33523	-0.9865	10	0.09338	T	0.73	-22.6371	7.1219	0.25450	0.0983:0.1703:0.7314:0.0	.	737	O75146	HIP1R_HUMAN	A	737	ENSP00000253083:G737A	ENSP00000253083:G737A	G	+	2	0	HIP1R	121909612	0.098000	0.21812	0.342000	0.25602	0.969000	0.65631	0.910000	0.28571	0.995000	0.38917	0.561000	0.74099	GGG		0.687	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959		4	17	0	0	0	1	0	4	17				
CLPX	10845	broad.mit.edu	37	15	65450102	65450102	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:65450102C>T	ENST00000300107.3	-	8	1227	c.1039G>A	c.(1039-1041)Gtg>Atg	p.V347M		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	347					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						GCTTTTTCCACATTATAATTG	0.358																																						ENST00000300107.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						c.(1039-1041)Gtg>Atg		caseinolytic mitochondrial matrix peptidase chaperone subunit							183.0	165.0	171.0					15																	65450102		2202	4299	6501	SO:0001583	missense	10845				protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding	g.chr15:65450102C>T	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.1039G>A	15.37:g.65450102C>T	ENSP00000300107:p.Val347Met						p.V347M	NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN			8	1227	-			347					A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	ENST00000300107.3	37	c.1039G>A	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520671	0.64747	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.46451	0.87	6.07	5.14	0.70334	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);	0.053960	0.64402	D	0.000001	T	0.70753	0.3260	M	0.93720	3.45	0.80722	D	1	P;D	0.58620	0.942;0.983	P;D	0.68943	0.743;0.961	T	0.78132	-0.2323	10	0.87932	D	0	.	11.6607	0.51345	0.1249:0.8099:0.0:0.0652	.	347;347	Q9H072;O76031	.;CLPX_HUMAN	M	347	ENSP00000300107:V347M	ENSP00000300107:V347M	V	-	1	0	CLPX	63237155	1.000000	0.71417	0.995000	0.50966	0.641000	0.38312	4.635000	0.61332	1.526000	0.49068	0.655000	0.94253	GTG		0.358	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660		48	90	0	0	0	1	0	48	90				
MLXIP	22877	broad.mit.edu	37	12	122612496	122612496	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:122612496A>G	ENST00000319080.7	+	3	719	c.587A>G	c.(586-588)gAc>gGc	p.D196G						MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GTGGACGTAGACGAGCACCGC	0.607																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(586-588)gAc>gGc		MLX interacting protein							104.0	112.0	110.0					12																	122612496		2024	4179	6203	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122612496A>G	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.587A>G	12.37:g.122612496A>G	ENSP00000312834:p.Asp196Gly						p.D196G			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	3	719	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	196			Required for cytoplasmic localization.			Missense_Mutation	SNP	ENST00000319080.7	37	c.587A>G		.	.	.	.	.	.	.	.	.	.	A	20.2	3.950631	0.73787	.	.	ENSG00000175727	ENST00000319080	T	0.30981	1.51	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.31071	0.0785	.	.	.	0.80722	D	1	B	0.31413	0.322	B	0.32289	0.143	T	0.12293	-1.0553	9	0.62326	D	0.03	-15.8216	15.4112	0.74923	1.0:0.0:0.0:0.0	.	196	Q9HAP2	MLXIP_HUMAN	G	196	ENSP00000312834:D196G	ENSP00000312834:D196G	D	+	2	0	MLXIP	121178450	1.000000	0.71417	0.683000	0.30040	0.731000	0.41821	6.951000	0.75983	2.094000	0.63399	0.533000	0.62120	GAC		0.607	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		10	267	0	0	0	1	0	10	267				
PLXNA1	5361	broad.mit.edu	37	3	126749132	126749132	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:126749132G>C	ENST00000393409.2	+	28	5108	c.5108G>C	c.(5107-5109)aGc>aCc	p.S1703T	PLXNA1_ENST00000251772.4_Missense_Mutation_p.S1680T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1703					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACCATCTTCAGCACGGCACAC	0.627																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(5107-5109)aGc>aCc		plexin A1							116.0	106.0	110.0					3																	126749132		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126749132G>C	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5108G>C	3.37:g.126749132G>C	ENSP00000377061:p.Ser1703Thr					PLXNA1_ENST00000251772.4_Missense_Mutation_p.S1680T	p.S1703T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	28	5108	+			1703						Missense_Mutation	SNP	ENST00000393409.2	37	c.5108G>C	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686115	0.68157	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.18960	2.18;2.18	3.39	3.39	0.38822	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.167400	0.40728	N	0.001040	T	0.34890	0.0913	L	0.56124	1.755	0.80722	D	1	P;P	0.43231	0.708;0.801	P;P	0.54544	0.612;0.755	T	0.09335	-1.0679	10	0.36615	T	0.2	.	15.2982	0.73925	0.0:0.0:1.0:0.0	.	317;1703	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	T	1703;1680	ENSP00000377061:S1703T;ENSP00000251772:S1680T	ENSP00000251772:S1680T	S	+	2	0	PLXNA1	128231822	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	9.411000	0.97342	1.885000	0.54596	0.313000	0.20887	AGC		0.627	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		43	127	0	0	0	1	0	43	127				
IRS2	8660	broad.mit.edu	37	13	110436745	110436745	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:110436745A>G	ENST00000375856.3	-	1	2170	c.1656T>C	c.(1654-1656)tgT>tgC	p.C552C		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	552					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			AGGAGCGGCCACAGTGGCTCA	0.731																																					Melanoma(100;613 2409 40847)	ENST00000375856.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1654-1656)tgT>tgC		insulin receptor substrate 2							12.0	17.0	15.0					13																	110436745		2136	4234	6370	SO:0001819	synonymous_variant	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110436745A>G	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.1656T>C	13.37:g.110436745A>G							p.C552C	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	2170	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	552					Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	ENST00000375856.3	37	c.1656T>C	CCDS9510.1																																																																																				0.731	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		13	41	0	0	0	1	0	13	41				
DCK	1633	broad.mit.edu	37	4	71888147	71888147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:71888147C>T	ENST00000286648.5	+	3	668	c.271C>T	c.(271-273)Cga>Tga	p.R91*	MOB1B_ENST00000511449.1_3'UTR|DCK_ENST00000504952.1_Nonsense_Mutation_p.R91*|DCK_ENST00000504730.1_Nonsense_Mutation_p.R91*	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	91					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	GAAACCTGAACGATGGTCTTT	0.378																																						ENST00000286648.5																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9						c.(271-273)Cga>Tga		deoxycytidine kinase	Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)						119.0	117.0	117.0					4																	71888147		2203	4300	6503	SO:0001587	stop_gained	1633				purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity	g.chr4:71888147C>T	M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.271C>T	4.37:g.71888147C>T	ENSP00000286648:p.Arg91*					DCK_ENST00000504952.1_Nonsense_Mutation_p.R91*|MOB1B_ENST00000511449.1_3'UTR|DCK_ENST00000504730.1_Nonsense_Mutation_p.R91*	p.R91*	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	Lung(101;0.235)		3	668	+			91					B2R8V6|Q5TZY7|Q6FI11	Nonsense_Mutation	SNP	ENST00000286648.5	37	c.271C>T	CCDS3548.1	.	.	.	.	.	.	.	.	.	.	C	36	5.957753	0.97145	.	.	ENSG00000156136	ENST00000286648;ENST00000504730;ENST00000504952	.	.	.	5.83	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0526	0.71888	0.333:0.667:0.0:0.0	.	.	.	.	X	91	.	ENSP00000286648:R91X	R	+	1	2	DCK	72107011	0.999000	0.42202	0.879000	0.34478	0.956000	0.61745	0.997000	0.29731	1.449000	0.47699	-0.311000	0.09066	CGA		0.378	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2			6	107	0	0	0	1	0	6	107				
HNRNPD	3184	broad.mit.edu	37	4	83279810	83279810	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:83279810A>G	ENST00000313899.7	-	4	899		c.e4+1		HNRNPD_ENST00000543098.1_Splice_Site|HNRNPD_ENST00000352301.4_Splice_Site|HNRNPD_ENST00000353341.4_Splice_Site|HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000541060.1_Splice_Site	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)						circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TTTATAACATACCTCACCAAA	0.373																																						ENST00000313899.7																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.e4+1		heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)							91.0	95.0	94.0					4																	83279810		2203	4300	6503	SO:0001630	splice_region_variant	3184				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding	g.chr4:83279810A>G	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.621+1T>C	4.37:g.83279810A>G						HNRNPD_ENST00000353341.4_Splice_Site|HNRNPD_ENST00000352301.4_Splice_Site|HNRNPD_ENST00000543098.1_Splice_Site|HNRNPD_ENST00000541060.1_Splice_Site		NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN			4	899	-								A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Splice_Site	SNP	ENST00000313899.7	37		CCDS3592.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.677127	0.68042	.	.	ENSG00000138668	ENST00000313899;ENST00000353341;ENST00000352301;ENST00000514671;ENST00000543098;ENST00000307213;ENST00000541060;ENST00000509263;ENST00000507010;ENST00000515432	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4622	0.84064	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HNRNPD	83498834	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	8.962000	0.93254	2.289000	0.77006	0.533000	0.62120	.		0.373	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370	Intron	29	90	0	0	0	1	0	29	90				
SUN1	23353	broad.mit.edu	37	7	905684	905684	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:905684T>C	ENST00000405266.1	+	17	2095	c.2071T>C	c.(2071-2073)Tcc>Ccc	p.S691P	SUN1_ENST00000456758.2_Missense_Mutation_p.S843P|SUN1_ENST00000413514.2_Missense_Mutation_p.S452P|SUN1_ENST00000389574.3_Missense_Mutation_p.S571P|SUN1_ENST00000425407.2_Missense_Mutation_p.S571P|SUN1_ENST00000401592.1_Missense_Mutation_p.S654P|SUN1_ENST00000452783.2_Missense_Mutation_p.S551P			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	681	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTCTCGCAGTCCCCGCGCGT	0.577																																						ENST00000456758.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2527-2529)Tcc>Ccc		Sad1 and UNC84 domain containing 1							76.0	80.0	79.0					7																	905684		2094	4212	6306	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:905684T>C	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.2071T>C	7.37:g.905684T>C	ENSP00000384116:p.Ser691Pro					SUN1_ENST00000452783.2_Missense_Mutation_p.S551P|SUN1_ENST00000389574.3_Missense_Mutation_p.S571P|SUN1_ENST00000405266.1_Missense_Mutation_p.S691P|SUN1_ENST00000413514.2_Missense_Mutation_p.S452P|SUN1_ENST00000425407.2_Missense_Mutation_p.S571P|SUN1_ENST00000401592.1_Missense_Mutation_p.S654P	p.S843P			O94901	SUN1_HUMAN			22	2527	+			681					A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.2527T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.0|28.0	4.883157|4.883157	0.91740|0.91740	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514|ENST00000433212	T;T;T;T;T;T;T;T|.	0.43688|.	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94|.	4.94|4.94	4.94|4.94	0.65067|0.65067	Sad1/UNC-like, C-terminal (2);|.	0.104992|.	0.64402|.	D|.	0.000002|.	T|T	0.58836|0.58836	0.2150|0.2150	L|L	0.41632|0.41632	1.29|1.29	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;0.999;0.999;1.0;0.999;0.999|.	D;D;D;D;D;D|.	0.91635|.	0.996;0.997;0.993;0.999;0.996;0.993|.	T|T	0.56420|0.56420	-0.7982|-0.7982	10|5	0.62326|.	D|.	0.03|.	-21.6108|-21.6108	14.6072|14.6072	0.68489|0.68489	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	452;551;654;843;681;571|.	E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5|.	.;.;.;.;SUN1_HUMAN;.|.	P|A	843;571;551;691;654;681;571;579;452|502	ENSP00000388743:S843P;ENSP00000374225:S571P;ENSP00000413439:S551P;ENSP00000384116:S691P;ENSP00000384015:S654P;ENSP00000392309:S571P;ENSP00000409909:S579P;ENSP00000389313:S452P|.	ENSP00000297445:S681P|.	S|V	+|+	1|2	0|0	SUN1|SUN1	872210|872210	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.932000|0.932000	0.56968|0.56968	7.729000|7.729000	0.84864|0.84864	1.859000|1.859000	0.53934|0.53934	0.533000|0.533000	0.62120|0.62120	TCC|GTC		0.577	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		25	47	0	0	0	1	0	25	47				
ALS2	57679	broad.mit.edu	37	2	202626476	202626476	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:202626476T>C	ENST00000264276.6	-	4	613	c.241A>G	c.(241-243)Agc>Ggc	p.S81G	ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Missense_Mutation_p.S81G	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	81					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AGAATGGGGCTACTTGGACAA	0.433																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(241-243)Agc>Ggc		amyotrophic lateral sclerosis 2 (juvenile)							102.0	97.0	99.0					2																	202626476		1873	4102	5975	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202626476T>C	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.241A>G	2.37:g.202626476T>C	ENSP00000264276:p.Ser81Gly					ALS2_ENST00000496244.1_5'UTR|ALS2_ENST00000467448.1_Missense_Mutation_p.S81G	p.S81G	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			4	613	-			81					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.241A>G	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.816086	0.32145	.	.	ENSG00000003393	ENST00000264276;ENST00000467448;ENST00000409632;ENST00000410052	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	6.07	3.71	0.42584	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.557159	0.22496	N	0.059290	T	0.71617	0.3361	L	0.47716	1.5	0.09310	N	0.999998	B;B;B;B	0.15930	0.001;0.0;0.0;0.015	B;B;B;B	0.14578	0.002;0.003;0.001;0.011	T	0.63088	-0.6715	10	0.54805	T	0.06	.	6.3467	0.21353	0.2479:0.0666:0.0:0.6855	.	81;81;81;81	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	G	81	ENSP00000264276:S81G;ENSP00000429223:S81G;ENSP00000386384:S81G;ENSP00000386948:S81G	ENSP00000264276:S81G	S	-	1	0	ALS2	202334721	0.033000	0.19621	0.488000	0.27440	0.981000	0.71138	1.140000	0.31516	1.087000	0.41251	0.533000	0.62120	AGC		0.433	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		19	135	0	0	0	1	0	19	135				
CDS1	1040	broad.mit.edu	37	4	85530594	85530594	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:85530594G>A	ENST00000295887.5	+	3	681	c.258G>A	c.(256-258)tgG>tgA	p.W86*		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	410					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GGAAAAACTGGTGGATACGTG	0.333																																						ENST00000295887.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20						c.(256-258)tgG>tgA		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1							252.0	235.0	241.0					4																	85530594		2203	4300	6503	SO:0001587	stop_gained	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85530594G>A	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.258G>A	4.37:g.85530594G>A	ENSP00000295887:p.Trp86*						p.W86*	NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	3	681	+		Hepatocellular(203;0.114)	86					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Nonsense_Mutation	SNP	ENST00000295887.5	37	c.258G>A	CCDS3608.1	.	.	.	.	.	.	.	.	.	.	G	40	7.991214	0.98599	.	.	ENSG00000163624	ENST00000295887	.	.	.	5.57	5.57	0.84162	.	0.118214	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7842	19.5998	0.95557	0.0:0.0:1.0:0.0	.	.	.	.	X	86	.	ENSP00000295887:W86X	W	+	3	0	CDS1	85749618	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.472000	0.60189	2.629000	0.89072	0.555000	0.69702	TGG		0.333	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			21	64	0	0	0	1	0	21	64				
PPP2R3C	55012	broad.mit.edu	37	14	35568532	35568532	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:35568532T>C	ENST00000261475.5	-	7	985	c.632A>G	c.(631-633)gAa>gGa	p.E211G		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	211					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		GAAAGATTTTTCCAGACCATC	0.308																																						ENST00000261475.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15						c.(631-633)gAa>gGa		protein phosphatase 2, regulatory subunit B'', gamma							56.0	56.0	56.0					14																	35568532		2202	4289	6491	SO:0001583	missense	55012					centrosome|nucleus	calcium ion binding	g.chr14:35568532T>C	AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.632A>G	14.37:g.35568532T>C	ENSP00000261475:p.Glu211Gly						p.E211G	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)	7	985	-	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		211					B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	ENST00000261475.5	37	c.632A>G	CCDS9654.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.908973	0.92107	.	.	ENSG00000092020	ENST00000261475;ENST00000554361	T;T	0.27890	1.64;1.64	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.51329	0.1668	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.963	T	0.47923	-0.9079	10	0.41790	T	0.15	-11.2169	15.4627	0.75373	0.0:0.0:0.0:1.0	.	183;211	G3V2K1;Q969Q6	.;P2R3C_HUMAN	G	211;183	ENSP00000261475:E211G;ENSP00000450716:E183G	ENSP00000261475:E211G	E	-	2	0	PPP2R3C	34638283	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.390000	0.79816	2.113000	0.64589	0.528000	0.53228	GAA		0.308	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917		15	32	0	0	0	1	0	15	32				
CLASP2	23122	broad.mit.edu	37	3	33644452	33644452	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:33644452G>A	ENST00000468888.2	-	18	1965	c.1919C>T	c.(1918-1920)gCg>gTg	p.A640V	CLASP2_ENST00000480013.1_Missense_Mutation_p.A406V|CLASP2_ENST00000487200.1_Missense_Mutation_p.A412V|CLASP2_ENST00000399362.4_Missense_Mutation_p.A639V|CLASP2_ENST00000359576.5_Missense_Mutation_p.A639V|CLASP2_ENST00000461133.3_Missense_Mutation_p.A406V|CLASP2_ENST00000307312.7_Missense_Mutation_p.A128V|CLASP2_ENST00000539981.1_Missense_Mutation_p.A391V|CLASP2_ENST00000313350.6_Missense_Mutation_p.A412V|CLASP2_ENST00000333778.6_Missense_Mutation_p.A416V			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	406					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ACCTAGTGACGCATAGGAACC	0.468																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1915-1917)gCg>gTg		cytoplasmic linker associated protein 2							44.0	44.0	44.0					3																	33644452		2020	4178	6198	SO:0001583	missense	23122							g.chr3:33644452G>A	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.1919C>T	3.37:g.33644452G>A	ENSP00000419974:p.Ala640Val					CLASP2_ENST00000333778.6_Missense_Mutation_p.A416V|CLASP2_ENST00000487200.1_Missense_Mutation_p.A412V|CLASP2_ENST00000359576.5_Missense_Mutation_p.A639V|CLASP2_ENST00000307312.7_Missense_Mutation_p.A128V|CLASP2_ENST00000539981.1_Missense_Mutation_p.A391V|CLASP2_ENST00000480013.1_Missense_Mutation_p.A406V|CLASP2_ENST00000468888.2_Missense_Mutation_p.A640V|CLASP2_ENST00000313350.6_Missense_Mutation_p.A412V|CLASP2_ENST00000461133.3_Missense_Mutation_p.A406V	p.A639V	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			18	2269	-			640					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.1916C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.537731	0.96460	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000313350;ENST00000487200;ENST00000333778	T;T;T	0.21734	2.01;2.0;1.99	6.05	6.05	0.98169	Armadillo-type fold (1);	0.155080	0.56097	D	0.000022	T	0.44201	0.1282	M	0.69823	2.125	0.58432	D	0.999999	D;D;D;D;D	0.71674	0.998;0.991;0.994;0.997;0.986	P;P;P;P;P	0.58454	0.827;0.691;0.827;0.839;0.63	T	0.04427	-1.0952	10	0.35671	T	0.21	-17.4519	20.6013	0.99457	0.0:0.0:1.0:0.0	.	416;406;412;412;639	E7ENG2;O75122;B3KR06;O75122-2;F5H604	.;CLAP2_HUMAN;.;.;.	V	640;639;639;128;391;406;406;412;412;416	ENSP00000419974:A640V;ENSP00000382297:A639V;ENSP00000352581:A639V	ENSP00000304743:A128V	A	-	2	0	CLASP2	33619456	1.000000	0.71417	0.979000	0.43373	0.954000	0.61252	8.901000	0.92560	2.878000	0.98634	0.650000	0.86243	GCG		0.468	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		8	13	0	0	0	1	0	8	13				
ABCA1	19	broad.mit.edu	37	9	107594013	107594013	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:107594013A>G	ENST00000374736.3	-	13	1999	c.1605T>C	c.(1603-1605)ggT>ggC	p.G535G	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	535					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TGAACACAATACCAGCCCAGA	0.463																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(1603-1605)ggT>ggC		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						175.0	155.0	162.0					9																	107594013		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107594013A>G	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1605T>C	9.37:g.107594013A>G							p.G535G	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	13	1999	-			535					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.1605T>C	CCDS6762.1																																																																																				0.463	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		27	88	0	0	0	1	0	27	88				
CDH10	1008	broad.mit.edu	37	5	24537624	24537624	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:24537624C>T	ENST00000264463.4	-	3	898	c.391G>A	c.(391-393)Gct>Act	p.A131T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	131	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTGTTAATAGCTTGTGCGCGT	0.398										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(391-393)Gct>Act		cadherin 10, type 2 (T2-cadherin)							159.0	147.0	151.0					5																	24537624		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537624C>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.391G>A	5.37:g.24537624C>T	ENSP00000264463:p.Ala131Thr	HNSCC(23;0.051)					p.A131T	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	898	-			131			Cadherin 1.		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.391G>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	34	5.307969	0.95629	.	.	ENSG00000040731	ENST00000264463	T	0.71461	-0.57	5.82	5.82	0.92795	Cadherin (4);Cadherin-like (1);	0.050506	0.85682	D	0.000000	D	0.88855	0.6550	M	0.94101	3.495	0.51012	D	0.999909	D	0.89917	1.0	D	0.87578	0.998	D	0.90982	0.4828	10	0.87932	D	0	.	19.0796	0.93177	0.0:1.0:0.0:0.0	.	131	Q9Y6N8	CAD10_HUMAN	T	131	ENSP00000264463:A131T	ENSP00000264463:A131T	A	-	1	0	CDH10	24573381	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.758000	0.94735	0.557000	0.71058	GCT		0.398	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		50	115	0	0	0	1	0	50	115				
MFI2	4241	broad.mit.edu	37	3	196735731	196735731	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:196735731T>C	ENST00000296350.5	-	12	1744	c.1631A>G	c.(1630-1632)aAg>aGg	p.K544R		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	544	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GCCCACACACTTGTTGCGGCC	0.647																																						ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(1630-1632)aAg>aGg		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5							105.0	94.0	98.0					3																	196735731		2203	4300	6503	SO:0001583	missense	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196735731T>C		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1631A>G	3.37:g.196735731T>C	ENSP00000296350:p.Lys544Arg						p.K544R	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	12	1744	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		544			Transferrin-like 2.		Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	c.1631A>G	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.060762	0.76074	.	.	ENSG00000163975	ENST00000296350	T	0.36340	1.26	5.06	3.87	0.44632	.	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	L	0.48174	1.505	0.80722	D	1	D	0.54207	0.965	P	0.61940	0.896	T	0.36065	-0.9763	10	0.49607	T	0.09	-24.2288	10.8645	0.46847	0.0:0.0:0.1584:0.8416	.	544	P08582	TRFM_HUMAN	R	544	ENSP00000296350:K544R	ENSP00000296350:K544R	K	-	2	0	MFI2	198220128	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.156000	0.50708	0.729000	0.32403	0.455000	0.32223	AAG		0.647	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			10	129	0	0	0	1	0	10	129				
ZNF667	63934	broad.mit.edu	37	19	56953025	56953025	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:56953025T>C	ENST00000504904.3	-	7	2058	c.1339A>G	c.(1339-1341)Aaa>Gaa	p.K447E	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.K575E|ZNF667_ENST00000292069.6_Missense_Mutation_p.K447E			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	447					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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTACTACATTTATTGCATTTG	0.353																																						ENST00000504904.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1339-1341)Aaa>Gaa		zinc finger protein 667							46.0	48.0	47.0					19																	56953025		2203	4300	6503	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953025T>C		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1339A>G	19.37:g.56953025T>C	ENSP00000439402:p.Lys447Glu					ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.K575E|ZNF667_ENST00000292069.6_Missense_Mutation_p.K447E	p.K447E			Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	7	2058	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	447					B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.1339A>G	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	T	0.313	-0.966630	0.02232	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518;ENST00000360227	T;T;T	0.07444	3.19;3.19;3.19	5.03	2.84	0.33178	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000275	T	0.02047	0.0064	N	0.02842	-0.48	0.09310	N	1	B;P	0.34934	0.276;0.476	B;B	0.29267	0.1;0.1	T	0.39396	-0.9616	10	0.02654	T	1	-17.3663	4.1886	0.10411	0.0:0.1814:0.1754:0.6432	.	575;447	E7EPS0;Q5HYK9	.;ZN667_HUMAN	E	575;447;447;229;162	ENSP00000344699:K575E;ENSP00000439402:K447E;ENSP00000292069:K447E	ENSP00000292069:K447E	K	-	1	0	ZNF667	61644837	0.000000	0.05858	0.867000	0.34043	0.317000	0.28152	-0.499000	0.06413	0.933000	0.37291	-0.256000	0.11100	AAA		0.353	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		5	47	0	0	0	1	0	5	47				
HNRNPC	3183	broad.mit.edu	37	14	21681250	21681250	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:21681250G>A	ENST00000320084.7	-	5	670	c.431C>T	c.(430-432)cCt>cTt	p.P144L	HNRNPC_ENST00000557201.1_Missense_Mutation_p.P144L|HNRNPC_ENST00000556513.1_Missense_Mutation_p.P144L|HNRNPC_ENST00000556628.1_Missense_Mutation_p.P64L|HNRNPC_ENST00000554969.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000555309.1_Missense_Mutation_p.P144L|HNRNPC_ENST00000553300.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000553753.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000449098.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000555914.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000555883.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000430246.2_Missense_Mutation_p.P131L|HNRNPC_ENST00000554455.1_Missense_Mutation_p.P144L|HNRNPC_ENST00000556142.1_Missense_Mutation_p.P144L|HNRNPC_ENST00000420743.2_Missense_Mutation_p.P144L|HNRNPC_ENST00000556897.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000336053.6_Missense_Mutation_p.P131L	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	144					3'-UTR-mediated mRNA stabilization (GO:0070935)|ATP-dependent chromatin remodeling (GO:0043044)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|spliceosomal complex (GO:0005681)	identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleosomal DNA binding (GO:0031492)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		AGGAGGAGGAGGTACACGTGC	0.443																																					NSCLC(108;607 2244 12726 38757)	ENST00000430246.2																			0				breast(1)|liver(1)|lung(6)|skin(1)	9						c.(391-393)cCt>cTt		heterogeneous nuclear ribonucleoprotein C (C1/C2)							52.0	52.0	52.0					14																	21681250		2130	4242	6372	SO:0001583	missense	3183					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding	g.chr14:21681250G>A		CCDS41915.1, CCDS45079.1	14q11.2	2013-06-12		2007-08-16	ENSG00000092199	ENSG00000092199		"""RNA binding motif (RRM) containing"""	5035	protein-coding gene	gene with protein product		164020		HNRPC		3457372	Standard	NM_031314		Approved	hnRNPC	uc001waa.3	P07910	OTTHUMG00000170757	ENST00000320084.7:c.431C>T	14.37:g.21681250G>A	ENSP00000319690:p.Pro144Leu					HNRNPC_ENST00000555914.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000320084.7_Missense_Mutation_p.P144L|HNRNPC_ENST00000555883.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000555309.1_Missense_Mutation_p.P144L|HNRNPC_ENST00000554969.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000336053.6_Missense_Mutation_p.P131L|HNRNPC_ENST00000554455.1_Missense_Mutation_p.P144L|HNRNPC_ENST00000553753.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000556628.1_Missense_Mutation_p.P64L|HNRNPC_ENST00000449098.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000553300.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000420743.2_Missense_Mutation_p.P144L|HNRNPC_ENST00000557201.1_Missense_Mutation_p.P144L|HNRNPC_ENST00000556897.1_Missense_Mutation_p.P131L|HNRNPC_ENST00000556513.1_Missense_Mutation_p.P144L|HNRNPC_ENST00000556142.1_Missense_Mutation_p.P144L	p.P131L			P07910	HNRPC_HUMAN	Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)	5	3343	-	all_cancers(95;0.00176)		144					D3DS19|D3DS22|P22628|Q53EX2|Q59FD3|Q5FWE8|Q86SF8|Q86U45|Q96HK7|Q96HM4|Q96IY5|Q9BTS3	Missense_Mutation	SNP	ENST00000320084.7	37	c.392C>T	CCDS41915.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673117	0.88445	.	.	ENSG00000092199	ENST00000336053;ENST00000320084;ENST00000449098;ENST00000554969;ENST00000556142;ENST00000554455;ENST00000430246;ENST00000553753;ENST00000555914;ENST00000555309;ENST00000556628;ENST00000555883;ENST00000556513;ENST00000557201;ENST00000553300;ENST00000216296;ENST00000556897;ENST00000420743;ENST00000557157;ENST00000445284;ENST00000554539;ENST00000554383;ENST00000555215;ENST00000555137	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.18657	2.68;2.78;2.69;2.69;2.7;2.78;2.69;2.68;2.7;2.82;2.2;2.64;2.7;2.78;2.69;2.69;2.78;2.52;2.25;2.7;2.25;2.22	4.53	4.53	0.55603	.	0.000000	0.64402	U	0.000005	T	0.42177	0.1191	M	0.70595	2.14	0.80722	D	1	D;P;D;P;P;P;D	0.58970	0.982;0.956;0.984;0.894;0.915;0.935;0.974	P;P;P;P;P;B;P	0.59595	0.7;0.451;0.86;0.688;0.57;0.34;0.733	T	0.36089	-0.9762	10	0.49607	T	0.09	.	16.3787	0.83431	0.0:0.0:1.0:0.0	.	39;131;64;131;131;144;131	B4DQQ2;B4DY08;P07910-3;P07910-4;G3V4C1;P07910;P07910-2	.;.;.;.;.;HNRPC_HUMAN;.	L	131;144;131;131;144;144;131;131;131;144;64;131;144;144;131;39;131;144;52;144;28;131;144;144	ENSP00000338095:P131L;ENSP00000319690:P144L;ENSP00000404559:P131L;ENSP00000450725:P131L;ENSP00000451187:P144L;ENSP00000451291:P144L;ENSP00000442816:P131L;ENSP00000450548:P131L;ENSP00000451708:P131L;ENSP00000450790:P144L;ENSP00000451652:P64L;ENSP00000450629:P131L;ENSP00000452214:P144L;ENSP00000452276:P144L;ENSP00000450544:P131L;ENSP00000451176:P131L;ENSP00000404848:P144L;ENSP00000450601:P52L;ENSP00000452545:P28L;ENSP00000452021:P131L;ENSP00000452213:P144L;ENSP00000452185:P144L	ENSP00000216296:P39L	P	-	2	0	HNRNPC	20751090	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.103000	0.77014	2.226000	0.72624	0.563000	0.77884	CCT		0.443	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1			45	75	0	0	0	1	0	45	75				
SLC8A2	6543	broad.mit.edu	37	19	47969130	47969130	+	Silent	SNP	G	G	A	rs118059830	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:47969130G>A	ENST00000236877.6	-	2	926	c.531C>T	c.(529-531)atC>atT	p.I177I	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	177					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TGCACACGGCGATGACCACAA	0.582													G|||	3	0.000599042	0.0	0.0	5008	,	,		19000	0.003		0.0	False		,,,				2504	0.0					ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(529-531)atC>atT		solute carrier family 8 (sodium/calcium exchanger), member 2		G		0,4406		0,0,2203	67.0	52.0	57.0		531	-6.6	0.9	19	dbSNP_132	57	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC8A2	NM_015063.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		177/922	47969130	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47969130G>A	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.531C>T	19.37:g.47969130G>A						SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Intron	p.I177I	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	2	926	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	177					B4DYQ9	Silent	SNP	ENST00000236877.6	37	c.531C>T	CCDS33065.1																																																																																				0.582	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			18	46	0	0	0	1	0	18	46				
RCL1	10171	broad.mit.edu	37	9	4826916	4826916	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:4826916T>C	ENST00000381750.4	+	3	490	c.267T>C	c.(265-267)tgT>tgC	p.C89C	RCL1_ENST00000381732.3_Silent_p.C89C	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	89					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		AACATGACTGTAGCGTCCTTC	0.438																																						ENST00000381750.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(265-267)tgT>tgC		RNA terminal phosphate cyclase-like 1							254.0	242.0	246.0					9																	4826916		2203	4300	6503	SO:0001819	synonymous_variant	10171				ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity	g.chr9:4826916T>C	AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.267T>C	9.37:g.4826916T>C						RCL1_ENST00000381732.3_Silent_p.C89C	p.C89C	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN		GBM - Glioblastoma multiforme(50;0.0244)	3	490	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)	89					D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Silent	SNP	ENST00000381750.4	37	c.267T>C	CCDS6456.1																																																																																				0.438	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051587.1	NM_005772		26	252	0	0	0	1	0	26	252				
TBX22	50945	broad.mit.edu	37	X	79286155	79286155	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:79286155C>T	ENST00000373294.5	+	8	1136	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	TBX22_ENST00000442340.1_Missense_Mutation_p.P250S|TBX22_ENST00000373291.1_Missense_Mutation_p.P250S|TBX22_ENST00000373296.3_Missense_Mutation_p.P370S	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	370					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAACCTGCCTCTATGCTA	0.448																																						ENST00000442340.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(748-750)Cct>Tct		T-box 22							174.0	155.0	162.0					X																	79286155		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79286155C>T	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1108C>T	X.37:g.79286155C>T	ENSP00000362390:p.Pro370Ser					TBX22_ENST00000373291.1_Missense_Mutation_p.P250S|TBX22_ENST00000373294.5_Missense_Mutation_p.P370S|TBX22_ENST00000373296.3_Missense_Mutation_p.P370S	p.P250S	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN			9	1238	+			370					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.748C>T	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	c	13.62	2.290309	0.40494	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	4.63	4.63	0.57726	.	0.165654	0.23325	U	0.049411	D	0.92283	0.7552	L	0.49126	1.545	0.39141	D	0.962043	D	0.89917	1.0	D	0.83275	0.996	D	0.92528	0.6031	10	0.41790	T	0.15	.	15.2162	0.73267	0.0:1.0:0.0:0.0	.	370	Q9Y458	TBX22_HUMAN	S	370;250;370;250	ENSP00000362393:P370S;ENSP00000396394:P250S;ENSP00000362390:P370S;ENSP00000362388:P250S	ENSP00000362388:P250S	P	+	1	0	TBX22	79172811	1.000000	0.71417	0.536000	0.28039	0.267000	0.26476	3.785000	0.55424	1.882000	0.54519	0.509000	0.49947	CCT		0.448	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		41	64	0	0	0	1	0	41	64				
ACE	1636	broad.mit.edu	37	17	61574234	61574234	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:61574234C>T	ENST00000290866.4	+	24	3603	c.3579C>T	c.(3577-3579)agC>agT	p.S1193S	ACE_ENST00000490216.2_Silent_p.S619S|ACE_ENST00000428043.1_Intron|ACE_ENST00000577647.1_Silent_p.S619S|ACE_ENST00000413513.3_Silent_p.S578S|ACE_ENST00000290863.6_Silent_p.S619S|ACE_ENST00000421982.2_Silent_p.S398S	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1193	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCAACATGAGCGCCTCGGCCA	0.642																																						ENST00000577647.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1855-1857)agC>agT		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						34.0	35.0	35.0					17																	61574234		2203	4300	6503	SO:0001819	synonymous_variant	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61574234C>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3579C>T	17.37:g.61574234C>T						ACE_ENST00000290866.4_Silent_p.S1193S|ACE_ENST00000428043.1_Intron|ACE_ENST00000421982.2_Silent_p.S398S|ACE_ENST00000290863.6_Silent_p.S619S|ACE_ENST00000413513.3_Silent_p.S578S|ACE_ENST00000490216.2_Silent_p.S619S	p.S619S			P12821	ACE_HUMAN			13	1902	+			1193			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	ENST00000290866.4	37	c.1857C>T	CCDS11637.1																																																																																				0.642	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			15	40	0	0	0	1	0	15	40				
PCDHGB4	8641	broad.mit.edu	37	5	140768737	140768737	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140768737C>T	ENST00000519479.1	+	1	1286	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	429	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAAGCCTCCCCTCTCCTCC	0.488																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(1285-1287)cCc>cTc									121.0	127.0	125.0					5																	140768737		1959	4155	6114	SO:0001583	missense	8641							g.chr5:140768737C>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1286C>T	5.37:g.140768737C>T	ENSP00000428288:p.Pro429Leu					PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.P429L	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1286	+								O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1286C>T	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	15.86	2.957872	0.53400	.	.	ENSG00000253953	ENST00000519479	T	0.56941	0.43	5.14	5.14	0.70334	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.81380	0.4810	H	0.95712	3.71	0.25733	N	0.985246	D;D	0.67145	0.995;0.996	D;D	0.68483	0.929;0.958	T	0.77213	-0.2670	9	0.87932	D	0	.	18.6811	0.91546	0.0:1.0:0.0:0.0	.	429;429	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	L	429	ENSP00000428288:P429L	ENSP00000428288:P429L	P	+	2	0	PCDHGB4	140748921	0.008000	0.16893	0.798000	0.32154	0.041000	0.13682	2.445000	0.44899	2.568000	0.86640	0.650000	0.86243	CCC		0.488	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		5	228	0	0	0	1	0	5	228				
CHST5	23563	broad.mit.edu	37	16	75563688	75563688	+	Missense_Mutation	SNP	G	G	A	rs147059773		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:75563688G>A	ENST00000336257.3	-	3	1989	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.R205C	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	199					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TTGAAGAAGCGCACCTCCTTG	0.677																																						ENST00000336257.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(595-597)Cgc>Tgc		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5		G	CYS/ARG	1,4395	2.1+/-5.4	0,1,2197	85.0	91.0	89.0		595	2.8	1.0	16	dbSNP_134	89	0,8592		0,0,4296	no	missense	CHST5	NM_024533.4	180	0,1,6493	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	199/412	75563688	1,12987	2198	4296	6494	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563688G>A	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.595C>T	16.37:g.75563688G>A	ENSP00000338783:p.Arg199Cys					RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.R205C	p.R199C	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	1989	-			199					B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.595C>T	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.462982	0.63513	2.27E-4	0.0	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.84730	-1.89;-1.89	2.84	2.84	0.33178	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.92770	0.7701	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93893	0.7181	10	0.87932	D	0	.	12.6629	0.56824	0.0:0.0:1.0:0.0	.	205;199	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	C	199;205	ENSP00000338783:R199C;ENSP00000441220:R205C	ENSP00000338783:R199C	R	-	1	0	CHST5	74121189	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.110000	0.71535	1.583000	0.49898	0.313000	0.20887	CGC		0.677	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		65	192	0	0	0	1	0	65	192				
CLEC4G	339390	broad.mit.edu	37	19	7795312	7795312	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:7795312C>T	ENST00000328853.5	-	6	471	c.403G>A	c.(403-405)Gct>Act	p.A135T	CLEC4G_ENST00000598081.1_5'Flank	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	135						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CCGGCTTCAGCCAAGCCCTGG	0.677																																					Esophageal Squamous(146;540 1807 3349 19438 30853)	ENST00000328853.5																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						c.(403-405)Gct>Act		C-type lectin domain family 4, member G							23.0	27.0	26.0					19																	7795312		2196	4285	6481	SO:0001583	missense	339390					integral to membrane	protein binding|sugar binding	g.chr19:7795312C>T	AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"""C-type lectin domain containing"""	24591	protein-coding gene	gene with protein product			"""C-type lectin superfamily 4, member G"""			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.403G>A	19.37:g.7795312C>T	ENSP00000327599:p.Ala135Thr						p.A135T	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN			6	471	-			135						Missense_Mutation	SNP	ENST00000328853.5	37	c.403G>A	CCDS12185.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925065	0.73213	.	.	ENSG00000182566	ENST00000328853;ENST00000381308	T	0.01059	5.39	5.28	5.28	0.74379	.	0.000000	0.34411	N	0.003993	T	0.04861	0.0131	L	0.52011	1.625	0.33878	D	0.635779	D	0.89917	1.0	D	0.83275	0.996	T	0.25047	-1.0143	10	0.59425	D	0.04	.	14.3924	0.66989	0.0:1.0:0.0:0.0	.	135	Q6UXB4	CLC4G_HUMAN	T	135;19	ENSP00000327599:A135T	ENSP00000327599:A135T	A	-	1	0	CLEC4G	7701312	0.999000	0.42202	0.932000	0.37286	0.480000	0.33159	1.512000	0.35812	2.453000	0.82957	0.655000	0.94253	GCT		0.677	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	NM_198492		11	43	0	0	0	1	0	11	43				
NPDC1	56654	broad.mit.edu	37	9	139935003	139935003	+	Missense_Mutation	SNP	G	G	A	rs557931013		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:139935003G>A	ENST00000371601.4	-	6	884	c.671C>T	c.(670-672)gCg>gTg	p.A224V	RP11-229P13.20_ENST00000457302.2_lincRNA|NPDC1_ENST00000488145.1_5'Flank|NPDC1_ENST00000371600.3_Missense_Mutation_p.A302V	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	224				KADYATAKA -> EGRLRHCEG (in Ref. 6; CAB43321). {ECO:0000305}.		integral component of membrane (GO:0016021)				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGGGGCCTTCGCAGTGGCGTA	0.687													g|||	1	0.000199681	0.0008	0.0	5008	,	,		8893	0.0		0.0	False		,,,				2504	0.0					ENST00000371600.3																			0				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(904-906)gCg>gTg		neural proliferation, differentiation and control, 1							28.0	34.0	32.0					9																	139935003		2181	4285	6466	SO:0001583	missense	56654					integral to membrane		g.chr9:139935003G>A	AF285836	CCDS7024.1	9q34.3	2008-07-21			ENSG00000107281	ENSG00000107281			7899	protein-coding gene	gene with protein product		605798				11245976	Standard	NM_015392		Approved	DKFZp586J0523, CAB-, CAB1	uc004ckt.2	Q9NQX5	OTTHUMG00000020956	ENST00000371601.4:c.671C>T	9.37:g.139935003G>A	ENSP00000360660:p.Ala224Val					NPDC1_ENST00000371601.4_Missense_Mutation_p.A224V	p.A302V			Q9NQX5	NPDC1_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	5	1577	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	224					Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Missense_Mutation	SNP	ENST00000371601.4	37	c.905C>T	CCDS7024.1	.	.	.	.	.	.	.	.	.	.	g	5.782	0.328555	0.10956	.	.	ENSG00000107281	ENST00000371600;ENST00000371601	.	.	.	3.29	0.959	0.19624	.	0.900134	0.09061	U	0.854375	T	0.19927	0.0479	L	0.29908	0.895	0.09310	N	1	P;P;D;P	0.53462	0.816;0.816;0.96;0.816	B;B;B;B	0.41299	0.102;0.102;0.353;0.102	T	0.14783	-1.0460	9	0.17369	T	0.5	-12.769	8.6036	0.33760	0.0:0.0:0.5617:0.4383	.	224;224;302;224	Q8WXX4;Q9NQX5;Q5SPY9;Q8NCE1	.;NPDC1_HUMAN;.;.	V	302;224	.	ENSP00000360659:A302V	A	-	2	0	NPDC1	139054824	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.005000	0.12855	0.417000	0.25871	0.290000	0.19541	GCG		0.687	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055182.1	NM_015392		4	13	0	0	0	1	0	4	13				
LENG8	114823	broad.mit.edu	37	19	54967630	54967630	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54967630G>A	ENST00000326764.5	+	10	1910	c.1431G>A	c.(1429-1431)gcG>gcA	p.A477A	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	440										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GAGGCAGGGCGCAGCGTGGGA	0.687																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1429-1431)gcG>gcA		leukocyte receptor cluster (LRC) member 8							28.0	34.0	32.0					19																	54967630		2202	4300	6502	SO:0001819	synonymous_variant	114823						protein binding	g.chr19:54967630G>A	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1431G>A	19.37:g.54967630G>A						LENG8_ENST00000376514.2_Intron	p.A477A	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	10	1910	+	Ovarian(34;0.19)		440					B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	ENST00000326764.5	37	c.1431G>A	CCDS12894.1																																																																																				0.687	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		4	21	0	0	0	1	0	4	21				
BRAF	673	broad.mit.edu	37	7	140500208	140500208	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:140500208G>T	ENST00000288602.6	-	7	994	c.934C>A	c.(934-936)Cta>Ata	p.L312I		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	312					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	CCAGATGTTAGGGCAGTCTCT	0.488		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	0				NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(934-936)Cta>Ata		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						187.0	141.0	156.0					7																	140500208		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140500208G>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.934C>A	7.37:g.140500208G>T	ENSP00000288602:p.Leu312Ile						p.L312I	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			7	994	-	Melanoma(164;0.00956)		312					A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.934C>A	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330519	0.24167	.	.	ENSG00000157764	ENST00000288602	T	0.75821	-0.97	6.06	6.06	0.98353	.	0.104565	0.64402	D	0.000003	T	0.54806	0.1881	N	0.08118	0	0.31367	N	0.680636	B	0.27264	0.173	B	0.19666	0.026	T	0.54248	-0.8322	10	0.19147	T	0.46	.	16.1614	0.81721	0.0:0.0:0.8661:0.1339	.	312	P15056	BRAF_HUMAN	I	312	ENSP00000288602:L312I	ENSP00000288602:L312I	L	-	1	2	BRAF	140146677	1.000000	0.71417	0.090000	0.20809	0.066000	0.16364	7.174000	0.77620	2.880000	0.98712	0.650000	0.86243	CTA		0.488	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	88	1	0	4.47668e-21	1	4.72492e-21	25	88				
FARP1	10160	broad.mit.edu	37	13	99047677	99047677	+	Missense_Mutation	SNP	T	T	C	rs199693167		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:99047677T>C	ENST00000319562.6	+	13	1626	c.1361T>C	c.(1360-1362)gTc>gCc	p.V454A	FARP1_ENST00000376586.2_Missense_Mutation_p.V454A|FARP1_ENST00000595437.1_Missense_Mutation_p.V454A	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	454					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GAGGAGGAGGTCGTTAAGGAT	0.667																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(1360-1362)gTc>gCc		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							28.0	35.0	33.0					13																	99047677		2145	4206	6351	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99047677T>C	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1361T>C	13.37:g.99047677T>C	ENSP00000322926:p.Val454Ala					FARP1_ENST00000319562.6_Missense_Mutation_p.V454A|FARP1_ENST00000595437.1_Missense_Mutation_p.V454A	p.V454A			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		13	1697	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		454					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.1361T>C	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.595392	0.00857	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	T;T	0.77620	-1.11;-0.94	4.8	-0.232	0.13082	.	4.574660	0.00754	N	0.001087	T	0.61185	0.2327	N	0.16478	0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49021	-0.8982	10	0.08381	T	0.77	.	7.6044	0.28093	0.0:0.4849:0.1648:0.3503	.	454;454	Q9Y4F1;C9JME2	FARP1_HUMAN;.	A	454;159;454	ENSP00000365771:V454A;ENSP00000322926:V454A	ENSP00000322926:V454A	V	+	2	0	FARP1	97845678	0.000000	0.05858	0.012000	0.15200	0.116000	0.19942	-0.604000	0.05667	-0.310000	0.08766	-0.464000	0.05259	GTC		0.667	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		23	109	0	0	0	1	0	23	109				
CLEC4F	165530	broad.mit.edu	37	2	71043570	71043570	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:71043570C>T	ENST00000272367.2	-	4	1019	c.943G>A	c.(943-945)Gct>Act	p.A315T	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A315T	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	315					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGGATCTCAGCACTAGTGTTG	0.413																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2																			0				endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						c.(943-945)Gct>Act		C-type lectin domain family 4, member F							92.0	94.0	93.0					2																	71043570		2203	4300	6503	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71043570C>T	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.943G>A	2.37:g.71043570C>T	ENSP00000272367:p.Ala315Thr					CLEC4F_ENST00000426626.1_Missense_Mutation_p.A315T	p.A315T	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN			4	1019	-			315					A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.943G>A	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151311	0.57151	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.78003	-1.14;-1.14	4.39	2.52	0.30459	.	0.536599	0.15662	N	0.250861	T	0.79446	0.4447	L	0.42245	1.32	0.09310	N	1	D;D	0.71674	0.972;0.998	P;P	0.58820	0.759;0.846	T	0.68458	-0.5403	10	0.66056	D	0.02	.	9.5237	0.39152	0.3835:0.6165:0.0:0.0	.	315;315	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	T	315	ENSP00000272367:A315T;ENSP00000390581:A315T	ENSP00000272367:A315T	A	-	1	0	CLEC4F	70897078	0.005000	0.15991	0.179000	0.23059	0.045000	0.14185	-0.148000	0.10219	0.564000	0.29238	0.313000	0.20887	GCT		0.413	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		30	119	0	0	0	1	0	30	119				
ARHGEF9	23229	broad.mit.edu	37	X	62885895	62885895	+	Silent	SNP	G	G	A	rs141158169		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:62885895G>A	ENST00000253401.6	-	7	1727	c.927C>T	c.(925-927)ggC>ggT	p.G309G	ARHGEF9_ENST00000433323.2_Intron|ARHGEF9_ENST00000374870.4_Silent_p.G207G|ARHGEF9_ENST00000495564.1_Intron|ARHGEF9_ENST00000374872.1_Silent_p.G288G|ARHGEF9_ENST00000374878.1_Silent_p.G307G|ARHGEF9_ENST00000437457.2_Silent_p.G256G	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	309					apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GGATGTCCTCGCCCTGGGAAG	0.597																																						ENST00000253401.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(925-927)ggC>ggT		Cdc42 guanine nucleotide exchange factor (GEF) 9		G	,,	1,3834		0,1,1631,571	96.0	76.0	83.0		768,621,927	-10.2	0.8	X	dbSNP_134	83	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	ARHGEF9	NM_001173479.1,NM_001173480.1,NM_015185.2	,,	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	,,	256/464,207/415,309/517	62885895	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62885895G>A	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.927C>T	X.37:g.62885895G>A						ARHGEF9_ENST00000374878.1_Silent_p.G307G|ARHGEF9_ENST00000437457.2_Silent_p.G256G|ARHGEF9_ENST00000433323.2_Intron|ARHGEF9_ENST00000374870.4_Silent_p.G207G|ARHGEF9_ENST00000374872.1_Silent_p.G288G|ARHGEF9_ENST00000495564.1_Intron	p.G309G	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN			7	1727	-			309					A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Silent	SNP	ENST00000253401.6	37	c.927C>T	CCDS35315.1																																																																																				0.597	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			22	23	0	0	0	1	0	22	23				
EPHX2	2053	broad.mit.edu	37	8	27348771	27348771	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:27348771C>T	ENST00000521400.1	+	1	476	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000517536.1_Silent_p.L16L|EPHX2_ENST00000380476.3_5'UTR|EPHX2_ENST00000518379.1_Silent_p.L16L|EPHX2_ENST00000521780.1_5'UTR	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	16	Phosphatase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		GGTGCTGGCGCTGCCAGCGGT	0.746																																						ENST00000521400.1																			0				cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(46-48)Ctg>Ttg		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						7.0	9.0	8.0					8																	27348771		2104	4157	6261	SO:0001819	synonymous_variant	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27348771C>T	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.46C>T	8.37:g.27348771C>T						EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000521780.1_5'UTR|EPHX2_ENST00000518379.1_Silent_p.L16L|EPHX2_ENST00000517536.1_Silent_p.L16L|EPHX2_ENST00000380476.3_5'UTR	p.L16L	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	1	476	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	16			Phosphatase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Silent	SNP	ENST00000521400.1	37	c.46C>T	CCDS6060.1																																																																																				0.746	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			4	25	0	0	0	1	0	4	25				
RAB10	10890	broad.mit.edu	37	2	26357811	26357811	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:26357811C>A	ENST00000264710.4	+	6	1023	c.524C>A	c.(523-525)cCt>cAt	p.P175H	RAB10_ENST00000462003.1_3'UTR	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	175					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGCAGACCCCTGTAAAAGAG	0.413																																						ENST00000264710.4																			0				lung(2)|ovary(1)	3						c.(523-525)cCt>cAt		RAB10, member RAS oncogene family							82.0	79.0	80.0					2																	26357811		2203	4300	6503	SO:0001583	missense	10890				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	g.chr2:26357811C>A	AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"""RAB, member RAS oncogene"""	9759	protein-coding gene	gene with protein product	"""ras-related GTP-binding protein"""	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.524C>A	2.37:g.26357811C>A	ENSP00000264710:p.Pro175His					RAB10_ENST00000462003.1_3'UTR	p.P175H	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN			6	1023	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		175					D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Missense_Mutation	SNP	ENST00000264710.4	37	c.524C>A	CCDS1720.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309341	0.40895	.	.	ENSG00000084733	ENST00000264710	T	0.80033	-1.33	5.71	5.71	0.89125	.	0.230015	0.46145	D	0.000309	T	0.73218	0.3559	L	0.28556	0.865	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.67883	-0.5555	10	0.49607	T	0.09	.	16.5638	0.84573	0.0:1.0:0.0:0.0	.	175	P61026	RAB10_HUMAN	H	175	ENSP00000264710:P175H	ENSP00000264710:P175H	P	+	2	0	RAB10	26211315	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.985000	0.76193	2.695000	0.91970	0.462000	0.41574	CCT		0.413	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211610.1	NM_016131		10	35	1	0	3.86212e-05	1	3.93362e-05	10	35				
NEB	4703	broad.mit.edu	37	2	152536301	152536301	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:152536301T>C	ENST00000172853.10	-	32	3336	c.3189A>G	c.(3187-3189)ggA>ggG	p.G1063G	NEB_ENST00000397345.3_Silent_p.G1063G|NEB_ENST00000409198.1_Silent_p.G1063G|NEB_ENST00000427231.2_Silent_p.G1063G|NEB_ENST00000604864.1_Silent_p.G1063G|NEB_ENST00000603639.1_Silent_p.G1063G			P20929	NEBU_HUMAN	nebulin	1063					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCAGGTCATATCCCTTCTTGC	0.448																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(3187-3189)ggA>ggG		nebulin							113.0	111.0	111.0					2																	152536301		1958	4159	6117	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152536301T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.3189A>G	2.37:g.152536301T>C						NEB_ENST00000409198.1_Silent_p.G1063G|NEB_ENST00000172853.10_Silent_p.G1063G|NEB_ENST00000427231.2_Silent_p.G1063G|NEB_ENST00000603639.1_Silent_p.G1063G|NEB_ENST00000604864.1_Silent_p.G1063G	p.G1063G	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	32	3391	-			1063					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.3189A>G																																																																																					0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		29	95	0	0	0	1	0	29	95				
SCN4A	6329	broad.mit.edu	37	17	62036778	62036778	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:62036778T>C	ENST00000435607.1	-	12	1942	c.1866A>G	c.(1864-1866)acA>acG	p.T622T	SCN4A_ENST00000578147.1_Silent_p.T622T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	622					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCATCTCTGCTGTGAAGATGC	0.582																																						ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(1864-1866)acA>acG		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						66.0	68.0	67.0					17																	62036778		2013	4199	6212	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62036778T>C	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.1866A>G	17.37:g.62036778T>C						SCN4A_ENST00000578147.1_Silent_p.T622T	p.T622T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			12	1942	-			622					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.1866A>G	CCDS45761.1																																																																																				0.582	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		10	32	0	0	0	1	0	10	32				
SRRM2	23524	broad.mit.edu	37	16	2812213	2812213	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2812213T>C	ENST00000301740.8	+	11	2233	c.1684T>C	c.(1684-1686)Tcc>Ccc	p.S562P		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	562	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCGAGGGAGGTCCCACTCTAG	0.622																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(1684-1686)Tcc>Ccc		serine/arginine repetitive matrix 2							35.0	40.0	38.0					16																	2812213		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812213T>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1684T>C	16.37:g.2812213T>C	ENSP00000301740:p.Ser562Pro						p.S562P	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	2233	+			562			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.1684T>C	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.676388	0.29783	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.26957	1.7	5.91	5.91	0.95273	.	0.000000	0.50627	D	0.000109	T	0.34948	0.0915	N	0.24115	0.695	0.34714	D	0.728042	D	0.65815	0.995	D	0.72982	0.979	T	0.44997	-0.9291	10	0.35671	T	0.21	-13.4136	12.7181	0.57127	0.0:0.0:0.0:1.0	.	562	Q9UQ35	SRRM2_HUMAN	P	562;562;527	ENSP00000301740:S562P	ENSP00000301740:S562P	S	+	1	0	SRRM2	2752214	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	4.734000	0.62043	2.260000	0.74910	0.533000	0.62120	TCC		0.622	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			4	63	0	0	0	1	0	4	63				
LRRK2	120892	broad.mit.edu	37	12	40692915	40692915	+	Nonsense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:40692915A>T	ENST00000298910.7	+	25	3410	c.3352A>T	c.(3352-3354)Aaa>Taa	p.K1118*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.K1118*	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1118					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GACTAGAAATAAAATATCAGG	0.323																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(3352-3354)Aaa>Taa		leucine-rich repeat kinase 2							78.0	84.0	82.0					12																	40692915		2203	4300	6503	SO:0001587	stop_gained	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40692915A>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3352A>T	12.37:g.40692915A>T	ENSP00000298910:p.Lys1118*					LRRK2_ENST00000343742.2_Nonsense_Mutation_p.K1118*	p.K1118*	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			25	3410	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1118					A6NJU2|Q6ZS50|Q8NCX9	Nonsense_Mutation	SNP	ENST00000298910.7	37	c.3352A>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	41	8.763441	0.98943	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	.	.	.	5.09	5.09	0.68999	.	0.290390	0.39274	N	0.001420	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8721	0.70465	1.0:0.0:0.0:0.0	.	.	.	.	X	1118	.	ENSP00000298910:K1118X	K	+	1	0	LRRK2	38979182	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	4.177000	0.58276	1.916000	0.55485	0.402000	0.26972	AAA		0.323	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		19	79	0	0	0	1	0	19	79				
PQLC2	54896	broad.mit.edu	37	1	19651169	19651169	+	Silent	SNP	G	G	A	rs368875302		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:19651169G>A	ENST00000375153.3	+	3	847	c.207G>A	c.(205-207)gcG>gcA	p.A69A	PQLC2_ENST00000400548.2_Silent_p.A4A|PQLC2_ENST00000375155.3_Silent_p.A69A	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	69	PQ-loop 1.				amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACCAGGCGCTGTCCCTGT	0.617																																						ENST00000375153.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10						c.(205-207)gcG>gcA		PQ loop repeat containing 2		G	,,	0,4406		0,0,2203	184.0	152.0	163.0		207,12,207	0.2	1.0	1		163	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	PQLC2	NM_001040125.1,NM_001040126.1,NM_017765.2	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	69/292,4/227,69/292	19651169	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	54896					integral to membrane		g.chr1:19651169G>A	BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.207G>A	1.37:g.19651169G>A						PQLC2_ENST00000375155.3_Silent_p.A69A|PQLC2_ENST00000400548.2_Silent_p.A4A	p.A69A	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	847	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	69			PQ-loop 1.		B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Silent	SNP	ENST00000375153.3	37	c.207G>A	CCDS195.2																																																																																				0.617	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007255.1	NM_017765		24	90	0	0	0	1	0	24	90				
TBX20	57057	broad.mit.edu	37	7	35280609	35280609	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:35280609T>C	ENST00000408931.3	-	5	1221	c.695A>G	c.(694-696)cAc>cGc	p.H232R		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	232					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						CTTAATGATGTGCACCCTTGG	0.373																																						ENST00000408931.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						c.(694-696)cAc>cGc		T-box 20							117.0	105.0	109.0					7																	35280609		2203	4300	6503	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35280609T>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.695A>G	7.37:g.35280609T>C	ENSP00000386170:p.His232Arg						p.H232R	NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN			5	1221	-			232					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.695A>G	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.554015	0.86231	.	.	ENSG00000164532	ENST00000408931	D	0.89343	-2.5	5.72	5.72	0.89469	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96642	0.8904	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98100	1.0414	10	0.87932	D	0	.	16.0129	0.80417	0.0:0.0:0.0:1.0	.	232	Q9UMR3	TBX20_HUMAN	R	232	ENSP00000386170:H232R	ENSP00000386170:H232R	H	-	2	0	TBX20	35247134	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	8.040000	0.89188	2.184000	0.69523	0.482000	0.46254	CAC		0.373	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		14	39	0	0	0	1	0	14	39				
ST18	9705	broad.mit.edu	37	8	53073971	53073971	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:53073971T>C	ENST00000276480.7	-	14	2241	c.1558A>G	c.(1558-1560)Aca>Gca	p.T520A		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	520					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCTTGCACTGTTTGTATGAGA	0.423																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1558-1560)Aca>Gca		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							197.0	191.0	193.0					8																	53073971		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53073971T>C	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1558A>G	8.37:g.53073971T>C	ENSP00000276480:p.Thr520Ala						p.T520A	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			14	2241	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	520					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1558A>G	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	7.671	0.686978	0.14973	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.57107	0.42;0.42	5.46	5.46	0.80206	Myelin transcription factor 1 (1);	0.625025	0.18395	N	0.142528	T	0.45816	0.1361	L	0.57536	1.79	0.24063	N	0.996003	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.001	T	0.30966	-0.9960	10	0.31617	T	0.26	-4.5154	7.5068	0.27549	0.128:0.0711:0.0:0.8009	.	520;520	E5RHS3;O60284	.;ST18_HUMAN	A	520	ENSP00000276480:T520A;ENSP00000428521:T520A	ENSP00000276480:T520A	T	-	1	0	ST18	53236524	0.456000	0.25744	0.999000	0.59377	0.877000	0.50540	0.011000	0.13264	2.199000	0.70637	0.456000	0.33151	ACA		0.423	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			27	154	0	0	0	1	0	27	154				
GJD2	57369	broad.mit.edu	37	15	35045150	35045150	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:35045150C>T	ENST00000290374.4	-	2	971	c.495G>A	c.(493-495)gaG>gaA	p.E165E	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	165					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		AACAATCTGGCTCTGTCTCCT	0.507																																						ENST00000290374.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19						c.(493-495)gaG>gaA		gap junction protein, delta 2, 36kDa							192.0	198.0	196.0					15																	35045150		2201	4298	6499	SO:0001819	synonymous_variant	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35045150C>T	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.495G>A	15.37:g.35045150C>T							p.E165E	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	971	-		all_lung(180;9.67e-07)	165					Q2M241|Q9P2R0	Silent	SNP	ENST00000290374.4	37	c.495G>A	CCDS10040.1																																																																																				0.507	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			32	272	0	0	0	1	0	32	272				
TRABD	80305	broad.mit.edu	37	22	50636360	50636360	+	Silent	SNP	C	C	T	rs139842330	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:50636360C>T	ENST00000303434.4	+	8	899	c.780C>T	c.(778-780)gaC>gaT	p.D260D	RP3-402G11.26_ENST00000608025.1_RNA|TRABD_ENST00000395827.1_Silent_p.D260D|TRABD_ENST00000395829.1_Silent_p.D260D|TRABD_ENST00000380909.4_Silent_p.D260D	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	260										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		CGGAGCGCGACGTCTACCTAA	0.667																																						ENST00000303434.4																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(778-780)gaC>gaT		TraB domain containing		C		0,4406		0,0,2203	134.0	102.0	113.0		780	3.0	0.1	22	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRABD	NM_025204.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		260/377	50636360	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80305							g.chr22:50636360C>T	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.780C>T	22.37:g.50636360C>T						TRABD_ENST00000395827.1_Silent_p.D260D|TRABD_ENST00000395829.1_Silent_p.D260D|TRABD_ENST00000380909.4_Silent_p.D260D	p.D260D	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	8	899	+		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)	260					Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Silent	SNP	ENST00000303434.4	37	c.780C>T	CCDS14086.1																																																																																				0.667	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1	NM_025204		38	115	0	0	0	1	0	38	115				
POU3F3	5455	broad.mit.edu	37	2	105473172	105473172	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:105473172G>T	ENST00000361360.2	+	1	1204	c.1204G>T	c.(1204-1206)Gcg>Tcg	p.A402S	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	402					central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CAAGATCGCGGCGCAGGGCCG	0.632																																						ENST00000361360.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1204-1206)Gcg>Tcg		POU class 3 homeobox 3							41.0	42.0	41.0					2																	105473172		2203	4300	6503	SO:0001583	missense	5455				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105473172G>T		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	9216	protein-coding gene	gene with protein product		602480	"""POU domain class 3, transcription factor 3"""				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1204G>T	2.37:g.105473172G>T	ENSP00000355001:p.Ala402Ser					RP11-13J10.1_ENST00000598623.1_RNA	p.A402S	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN			1	1204	+			402					P78379|Q4ZG25	Missense_Mutation	SNP	ENST00000361360.2	37	c.1204G>T	CCDS33265.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391540	0.62066	.	.	ENSG00000198914	ENST00000361360	D	0.84516	-1.86	4.14	4.14	0.48551	Homeodomain-related (1);	0.160686	0.39407	U	0.001368	D	0.82921	0.5142	L	0.46157	1.445	0.80722	D	1	B	0.28998	0.23	B	0.34590	0.186	D	0.83652	0.0156	10	0.66056	D	0.02	.	15.1857	0.72999	0.0:0.0:1.0:0.0	.	402	P20264	PO3F3_HUMAN	S	402	ENSP00000355001:A402S	ENSP00000355001:A402S	A	+	1	0	POU3F3	104839604	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.206000	0.95056	1.858000	0.53909	0.462000	0.41574	GCG		0.632	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2			16	46	1	0	4.7546e-09	1	4.90914e-09	16	46				
LRP1	4035	broad.mit.edu	37	12	57573223	57573223	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:57573223T>C	ENST00000243077.3	+	29	5316	c.4850T>C	c.(4849-4851)gTc>gCc	p.V1617A		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1617					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATCGACAACGTCACAGTGCTA	0.582																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4849-4851)gTc>gCc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						236.0	155.0	182.0					12																	57573223		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57573223T>C	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4850T>C	12.37:g.57573223T>C	ENSP00000243077:p.Val1617Ala						p.V1617A	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	29	5316	+			1617					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.4850T>C	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.401477	0.42613	.	.	ENSG00000123384	ENST00000243077	D	0.91407	-2.84	4.5	4.5	0.54988	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000014	D	0.88262	0.6389	N	0.16708	0.43	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	D	0.83929	0.0305	10	0.02654	T	1	.	13.2022	0.59774	0.0:0.0:0.0:1.0	.	1617	Q07954	LRP1_HUMAN	A	1617	ENSP00000243077:V1617A	ENSP00000243077:V1617A	V	+	2	0	LRP1	55859490	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.748000	0.85085	2.007000	0.58848	0.533000	0.62120	GTC		0.582	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		5	96	0	0	0	1	0	5	96				
PLXNA2	5362	broad.mit.edu	37	1	208206837	208206837	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:208206837T>C	ENST00000367033.3	-	28	5639	c.4882A>G	c.(4882-4884)Acg>Gcg	p.T1628A		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1628					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGGCTGCCCGTATACCTGAAG	0.602																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(4882-4884)Acg>Gcg		plexin A2							26.0	25.0	25.0					1																	208206837		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208206837T>C	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4882A>G	1.37:g.208206837T>C	ENSP00000356000:p.Thr1628Ala						p.T1628A	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	28	5639	-			1628					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.4882A>G	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	T	9.208	1.030314	0.19512	.	.	ENSG00000076356	ENST00000367033	T	0.10573	2.86	5.42	5.42	0.78866	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.059410	0.64402	D	0.000001	T	0.06508	0.0167	N	0.12746	0.255	0.80722	D	1	B	0.18310	0.027	B	0.17098	0.017	T	0.19451	-1.0305	10	0.07325	T	0.83	.	15.4847	0.75557	0.0:0.0:0.0:1.0	.	1628	O75051	PLXA2_HUMAN	A	1628	ENSP00000356000:T1628A	ENSP00000356000:T1628A	T	-	1	0	PLXNA2	206273460	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.669000	0.68081	2.051000	0.60960	0.533000	0.62120	ACG		0.602	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		6	33	0	0	0	1	0	6	33				
IKZF1	10320	broad.mit.edu	37	7	50450322	50450322	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:50450322G>A	ENST00000331340.3	+	5	661	c.506G>A	c.(505-507)gGg>gAg	p.G169E	IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.G82E|IKZF1_ENST00000357364.4_Missense_Mutation_p.G169E|IKZF1_ENST00000343574.5_Missense_Mutation_p.G82E|IKZF1_ENST00000439701.1_Missense_Mutation_p.G169E|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000359197.5_Missense_Mutation_p.G169E|IKZF1_ENST00000440768.2_Missense_Mutation_p.G169E	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	169					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CTGCATTCCGGGGAGAAGCCC	0.642			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		131	Unknown(131)	p.?(131)	haematopoietic_and_lymphoid_tissue(131)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(505-507)gGg>gAg		IKAROS family zinc finger 1 (Ikaros)							30.0	35.0	34.0					7																	50450322		2148	4272	6420	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50450322G>A	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.506G>A	7.37:g.50450322G>A	ENSP00000331614:p.Gly169Glu					IKZF1_ENST00000359197.5_Missense_Mutation_p.G169E|IKZF1_ENST00000343574.5_Missense_Mutation_p.G82E|IKZF1_ENST00000438033.1_Missense_Mutation_p.G82E|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.G169E|IKZF1_ENST00000440768.2_Missense_Mutation_p.G169E|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000357364.4_Missense_Mutation_p.G169E	p.G169E	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			5	661	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	169					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.506G>A		.	.	.	.	.	.	.	.	.	.	G	28.0	4.880967	0.91740	.	.	ENSG00000185811	ENST00000343574;ENST00000359197;ENST00000440768;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.78;1.48;1.48	5.97	5.97	0.96955	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.61874	0.2382	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.993;0.996	T	0.63523	-0.6618	9	0.87932	D	0	-29.5317	20.428	0.99075	0.0:0.0:1.0:0.0	.	82;169;169	Q13422-2;Q13422-7;Q13422	.;.;IKZF1_HUMAN	E	82;169;169;169;169;82;169	ENSP00000342750:G82E;ENSP00000352123:G169E;ENSP00000401507:G169E;ENSP00000349928:G169E;ENSP00000331614:G169E;ENSP00000396554:G82E;ENSP00000413025:G169E	ENSP00000331614:G169E	G	+	2	0	IKZF1	50417816	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	9.865000	0.99609	2.837000	0.97791	0.655000	0.94253	GGG		0.642	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		6	14	0	0	0	1	0	6	14				
SPTA1	6708	broad.mit.edu	37	1	158637817	158637817	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:158637817C>T	ENST00000368147.4	-	15	2049	c.1869G>A	c.(1867-1869)caG>caA	p.Q623Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	623					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAAAGACTTGCTGCTTTTGAA	0.393																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1867-1869)caG>caA		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							198.0	186.0	190.0					1																	158637817		1843	4092	5935	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158637817C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1869G>A	1.37:g.158637817C>T						SPTA1_ENST00000368147.3_Silent_p.Q623Q	p.Q623Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			15	2049	-	all_hematologic(112;0.0378)		623					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.1869G>A	CCDS41423.1																																																																																				0.393	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		42	147	0	0	0	1	0	42	147				
CD34	947	broad.mit.edu	37	1	208061250	208061250	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:208061250T>C	ENST00000310833.7	-	8	1312	c.991A>G	c.(991-993)Acg>Gcg	p.T331A	CD34_ENST00000356522.4_3'UTR|CD34_ENST00000367036.3_Missense_Mutation_p.T173A|CD34_ENST00000537704.1_Missense_Mutation_p.T196A|CD34_ENST00000485761.1_Intron	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	331					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CCGTTTTCCGTGTAATAAGGG	0.552																																						ENST00000310833.7																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						c.(991-993)Acg>Gcg		CD34 molecule							46.0	40.0	42.0					1																	208061250		2203	4300	6503	SO:0001583	missense	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208061250T>C	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.991A>G	1.37:g.208061250T>C	ENSP00000310036:p.Thr331Ala					CD34_ENST00000485761.1_Intron|CD34_ENST00000367036.3_Missense_Mutation_p.T173A|CD34_ENST00000537704.1_Missense_Mutation_p.T196A|CD34_ENST00000356522.4_3'UTR	p.T331A	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN			8	1312	-			331					A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	37	c.991A>G	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.459682	0.43736	.	.	ENSG00000174059	ENST00000310833;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T	0.23754	1.89;1.89;1.89	4.93	1.17	0.20885	.	0.662303	0.14869	N	0.293652	T	0.27027	0.0662	L	0.60455	1.87	0.35971	D	0.835285	B;P;B	0.43750	0.349;0.816;0.349	B;P;B	0.46362	0.253;0.514;0.167	T	0.26052	-1.0114	10	0.56958	D	0.05	-0.9052	4.0992	0.10005	0.315:0.0886:0.0:0.5965	.	196;331;173	B4DG27;P28906;Q5JTA5	.;CD34_HUMAN;.	A	331;173;196;301	ENSP00000310036:T331A;ENSP00000356003:T173A;ENSP00000442874:T196A	ENSP00000310036:T331A	T	-	1	0	CD34	206127873	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	0.756000	0.26419	0.003000	0.14656	-0.456000	0.05471	ACG		0.552	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		5	29	0	0	0	1	0	5	29				
KLF1	10661	broad.mit.edu	37	19	12995742	12995742	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:12995742G>A	ENST00000264834.4	-	3	1086	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L	CTD-2265O21.7_ENST00000592400.1_RNA	NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	349					cellular response to peptide (GO:1901653)|chromatin remodeling (GO:0006338)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCAGAGCGCGAAAAAGCACG	0.637																																						ENST00000264834.4																			0				endometrium(3)|large_intestine(1)|skin(1)	5						c.(1045-1047)tCg>tTg		Kruppel-like factor 1 (erythroid)							49.0	49.0	49.0					19																	12995742		2203	4300	6503	SO:0001583	missense	10661				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:12995742G>A	U37106	CCDS12285.1	19p13.2	2014-07-18			ENSG00000105610	ENSG00000105610		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6345	protein-coding gene	gene with protein product	"""erythroid Kruppel-like factor"""	600599				8924208, 9119377	Standard	NM_006563		Approved	EKLF	uc002mvo.3	Q13351	OTTHUMG00000180536	ENST00000264834.4:c.1046C>T	19.37:g.12995742G>A	ENSP00000264834:p.Ser349Leu						p.S349L	NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1086	-		Hepatocellular(1079;0.137)	349					Q6PIJ5|Q92899	Missense_Mutation	SNP	ENST00000264834.4	37	c.1046C>T	CCDS12285.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150319	0.94645	.	.	ENSG00000105610	ENST00000264834	T	0.18810	2.19	4.9	4.9	0.64082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.237962	0.22065	N	0.065111	T	0.33000	0.0848	L	0.40543	1.245	0.49299	D	0.999775	D	0.59357	0.985	P	0.59487	0.858	T	0.02294	-1.1181	10	0.72032	D	0.01	.	13.4329	0.61066	0.0:0.0:1.0:0.0	.	349	Q13351	KLF1_HUMAN	L	349	ENSP00000264834:S349L	ENSP00000264834:S349L	S	-	2	0	KLF1	12856742	1.000000	0.71417	0.173000	0.22940	0.596000	0.36781	7.778000	0.85637	2.557000	0.86248	0.561000	0.74099	TCG		0.637	KLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451794.1	NM_006563		36	69	0	0	0	1	0	36	69				
DNAAF1	123872	broad.mit.edu	37	16	84203766	84203766	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:84203766T>C	ENST00000378553.5	+	8	1456	c.1332T>C	c.(1330-1332)gcT>gcC	p.A444A	DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Intron	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	444	Pro-rich.				axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CCCTCCCAGCTGAGGCCCCAC	0.632																																						ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(1330-1332)gcT>gcC		dynein, axonemal, assembly factor 1							52.0	54.0	53.0					16																	84203766		2200	4300	6500	SO:0001819	synonymous_variant	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84203766T>C	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1332T>C	16.37:g.84203766T>C						DNAAF1_ENST00000334315.5_Intron|DNAAF1_ENST00000563818.1_3'UTR	p.A444A	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			8	1456	+			444			Pro-rich.		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Silent	SNP	ENST00000378553.5	37	c.1332T>C	CCDS10943.2																																																																																				0.632	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		11	97	0	0	0	1	0	11	97				
FZD10	11211	broad.mit.edu	37	12	130648984	130648984	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:130648984C>T	ENST00000229030.4	+	1	1981	c.1497C>T	c.(1495-1497)ccC>ccT	p.P499P	FZD10_ENST00000539839.1_3'UTR|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	499					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCTCCATCCCCGCCGTGGAGA	0.557																																						ENST00000229030.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(1495-1497)ccC>ccT		frizzled family receptor 10							42.0	43.0	43.0					12																	130648984		2202	4300	6502	SO:0001819	synonymous_variant	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648984C>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1497C>T	12.37:g.130648984C>T						FZD10_ENST00000539839.1_3'UTR	p.P499P			Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1981	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		499						Silent	SNP	ENST00000229030.4	37	c.1497C>T	CCDS9267.1																																																																																				0.557	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				28	47	0	0	0	1	0	28	47				
TNNT3	7140	broad.mit.edu	37	11	1957456	1957456	+	Intron	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1957456C>T	ENST00000397301.1	+	16	722				TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381558.1_Intron|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000278317.6_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000446240.1_Missense_Mutation_p.R213W|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000381548.3_Intron|TNNT3_ENST00000381579.3_Missense_Mutation_p.R224W|TNNT3_ENST00000360603.3_Missense_Mutation_p.R226W			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)						ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		CATGAATGTCCGGGCCAGAGT	0.627																																						ENST00000360603.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19						c.(676-678)Cgg>Tgg		troponin T type 3 (skeletal, fast)							75.0	81.0	79.0					11																	1957456		2011	4183	6194	SO:0001627	intron_variant	7140				muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr11:1957456C>T	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.715-737C>T	11.37:g.1957456C>T						TNNT3_ENST00000278317.6_Intron|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000381579.3_Missense_Mutation_p.R224W|TNNT3_ENST00000397301.1_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000381548.3_Intron|TNNT3_ENST00000446240.1_Missense_Mutation_p.R213W|TNNT3_ENST00000381558.1_Intron|TNNT3_ENST00000397304.2_Intron	p.R226W			P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	14	888	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	243					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	37	c.676C>T		.	.	.	.	.	.	.	.	.	.	.	20.7	4.028790	0.75504	.	.	ENSG00000130595	ENST00000360603;ENST00000381579;ENST00000446240	D;D;D	0.84146	-1.81;-1.81;-1.81	4.13	4.13	0.48395	.	.	.	.	.	D	0.92718	0.7685	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.94273	0.7512	9	0.87932	D	0	.	16.7659	0.85524	0.0:1.0:0.0:0.0	.	224	P45378-4	.	W	226;224;213	ENSP00000353815:R226W;ENSP00000370991:R224W;ENSP00000413203:R213W	ENSP00000353815:R226W	R	+	1	2	TNNT3	1914032	0.599000	0.26891	0.994000	0.49952	0.881000	0.50899	1.333000	0.33816	2.034000	0.60081	0.313000	0.20887	CGG		0.627	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757		21	58	0	0	0	1	0	21	58				
RYK	6259	broad.mit.edu	37	3	133878201	133878201	+	Missense_Mutation	SNP	G	G	A	rs375916618		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:133878201G>A	ENST00000427044.2	-	15	1635	c.1025C>T	c.(1024-1026)aCg>aTg	p.T342M	RYK_ENST00000296084.4_Missense_Mutation_p.T532M			P34925	RYK_HUMAN	receptor-like tyrosine kinase	528	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						TTCCCACAGCGTCACTCCAAA	0.537																																						ENST00000427044.2																			0				lung(1)|ovary(3)	4						c.(1024-1026)aCg>aTg		receptor-like tyrosine kinase		G	MET/THR,MET/THR	0,4028		0,0,2014	57.0	57.0	57.0		1599,1590	5.8	1.0	3		57	1,8323		0,1,4161	no	missense,missense	RYK	NM_001005861.2,NM_002958.3	81,81	0,1,6175	AA,AG,GG		0.012,0.0,0.0081	probably-damaging,probably-damaging	534/611,531/608	133878201	1,12351	2014	4162	6176	SO:0001583	missense	6259				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr3:133878201G>A	S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"""JTK5A protein tyrosine kinase"", ""RYK receptor-like tyrosine kinase"""	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.1025C>T	3.37:g.133878201G>A	ENSP00000399527:p.Thr342Met					RYK_ENST00000296084.4_Missense_Mutation_p.T532M	p.T342M			P34925	RYK_HUMAN			15	1635	-			528			Protein kinase.		Q04696	Missense_Mutation	SNP	ENST00000427044.2	37	c.1025C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.69|18.69	3.678532|3.678532	0.68042|0.68042	0.0|0.0	1.2E-4|1.2E-4	ENSG00000163785|ENSG00000163785	ENST00000460933|ENST00000296084;ENST00000427044	.|T;D	.|0.89681	.|0.71;-2.55	5.82|5.82	5.82|5.82	0.92795|0.92795	.|Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.137956	.|0.64402	.|D	.|0.000003	D|D	0.91666|0.91666	0.7366|0.7366	L|L	0.55103|0.55103	1.725|1.725	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63880	.|0.993;0.992	.|P;P	.|0.54401	.|0.751;0.636	D|D	0.91562|0.91562	0.5265|0.5265	5|10	.|0.59425	.|D	.|0.04	-5.2516|-5.2516	20.099|20.099	0.97865|0.97865	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|528;531	.|P34925;P34925-2	.|RYK_HUMAN;.	C|M	511|532;342	.|ENSP00000296084:T532M;ENSP00000399527:T342M	.|ENSP00000296084:T532M	R|T	-|-	1|2	0|0	RYK|RYK	135360891|135360891	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.926000|0.926000	0.56050|0.56050	9.476000|9.476000	0.97823|0.97823	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.537	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861		10	35	0	0	0	1	0	10	35				
DENND4C	55667	broad.mit.edu	37	9	19346377	19346377	+	Missense_Mutation	SNP	A	A	G	rs142943763		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:19346377A>G	ENST00000380432.2	+	18	2788	c.2755A>G	c.(2755-2757)Aca>Gca	p.T919A	DENND4C_ENST00000602925.1_Missense_Mutation_p.T1155A|DENND4C_ENST00000434457.2_Missense_Mutation_p.T1204A			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	919					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AACAGTAGATACATATGAGAG	0.408													A|||	1	0.000199681	0.0	0.0	5008	,	,		22145	0.001		0.0	False		,,,				2504	0.0					ENST00000307015.9																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1174-1176)Aca>Gca		DENN/MADD domain containing 4C							94.0	94.0	94.0					9																	19346377		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19346377A>G	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.2755A>G	9.37:g.19346377A>G	ENSP00000369797:p.Thr919Ala					DENND4C_ENST00000380432.2_Missense_Mutation_p.T919A|DENND4C_ENST00000602925.1_Missense_Mutation_p.T1155A|DENND4C_ENST00000434457.2_Missense_Mutation_p.T1204A|DENND4C_ENST00000540671.1_Missense_Mutation_p.T249A	p.T392A			Q5VZ89	DEN4C_HUMAN			19	2926	+			919			dDENN.		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.1174A>G		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	0.016	-1.523363	0.00967	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427	T;T	0.21932	1.98;2.0	5.81	-5.82	0.02333	.	4.436360	0.00508	N	0.000178	T	0.14056	0.0340	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.20107	-1.0285	10	0.17832	T	0.49	0.1078	10.5238	0.44936	0.342:0.0:0.548:0.1101	.	249;919;101;919	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	A	919;392;101;249;392;101	ENSP00000305795:T392A;ENSP00000443804:T249A	ENSP00000305795:T392A	T	+	1	0	DENND4C	19336377	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.545000	0.06069	-1.144000	0.02862	-0.924000	0.02725	ACA		0.408	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		12	64	0	0	0	1	0	12	64				
CLCC1	23155	broad.mit.edu	37	1	109479734	109479734	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:109479734C>T	ENST00000369971.2	-	10	1477	c.1348G>A	c.(1348-1350)Gca>Aca	p.A450T	CLCC1_ENST00000369970.3_Missense_Mutation_p.A400T|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000415331.1_Missense_Mutation_p.A400T|CLCC1_ENST00000302500.4_Missense_Mutation_p.A329T|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000369969.2_Missense_Mutation_p.A329T|CLCC1_ENST00000348264.2_Missense_Mutation_p.A265T|CLCC1_ENST00000356970.2_Missense_Mutation_p.A450T|CLCC1_ENST00000369968.2_Missense_Mutation_p.A265T	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	450						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CGTGCCTCTGCGTCTGGTACA	0.483																																						ENST00000369971.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14						c.(1348-1350)Gca>Aca		chloride channel CLIC-like 1							116.0	104.0	108.0					1																	109479734		2203	4300	6503	SO:0001583	missense	23155					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus		g.chr1:109479734C>T	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1348G>A	1.37:g.109479734C>T	ENSP00000358988:p.Ala450Thr					CLCC1_ENST00000369968.2_Missense_Mutation_p.A265T|CLCC1_ENST00000415331.1_Missense_Mutation_p.A400T|CLCC1_ENST00000369969.2_Missense_Mutation_p.A329T|CLCC1_ENST00000348264.2_Missense_Mutation_p.A265T|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000302500.4_Missense_Mutation_p.A329T|CLCC1_ENST00000369970.3_Missense_Mutation_p.A400T|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.A450T|CLCC1_ENST00000482889.1_Intron	p.A450T	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	10	1477	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	450					O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	ENST00000369971.2	37	c.1348G>A	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	C	7.286	0.610167	0.14066	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.5	4.55	0.56014	.	0.448629	0.23594	N	0.046516	T	0.11537	0.0281	N	0.25890	0.77	0.24599	N	0.993787	P;P;B;B	0.48911	0.917;0.654;0.023;0.037	B;B;B;B	0.35413	0.202;0.098;0.017;0.028	T	0.04522	-1.0945	10	0.19147	T	0.46	-8.6512	8.1195	0.30963	0.0:0.7899:0.0:0.2101	.	265;329;400;450	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	T	450;450;400;329;265;400;265;329	ENSP00000349456:A450T;ENSP00000358988:A450T;ENSP00000411591:A400T;ENSP00000358986:A329T;ENSP00000358985:A265T;ENSP00000358987:A400T;ENSP00000337243:A265T;ENSP00000306552:A329T	ENSP00000306552:A329T	A	-	1	0	CLCC1	109281257	0.336000	0.24757	0.987000	0.45799	0.121000	0.20230	0.717000	0.25851	1.339000	0.45563	0.563000	0.77884	GCA		0.483	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		25	69	0	0	0	1	0	25	69				
DCAF7	10238	broad.mit.edu	37	17	61628097	61628097	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:61628097A>G	ENST00000310827.4	+	1	276	c.59A>G	c.(58-60)tAc>tGc	p.Y20C	DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000431926.1_Missense_Mutation_p.Y20C|DCAF7_ENST00000415273.2_Missense_Mutation_p.Y20C	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	20					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						TGGACAGTCTACGCGATGAAC	0.637																																						ENST00000310827.4																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						c.(58-60)tAc>tGc		DDB1 and CUL4 associated factor 7							65.0	72.0	70.0					17																	61628097		2000	4162	6162	SO:0001583	missense	10238				multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding	g.chr17:61628097A>G	U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30915	protein-coding gene	gene with protein product	"""seven-WD-repeat protein of the AN11 family-1"", ""human anthocyanin"""	605973	"""WD repeat domain 68"""	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.59A>G	17.37:g.61628097A>G	ENSP00000308344:p.Tyr20Cys					DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Missense_Mutation_p.Y20C|DCAF7_ENST00000431926.1_Missense_Mutation_p.Y20C	p.Y20C	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN			1	276	+			20					B4E039|D3DU14|O15491|Q9DAE4	Missense_Mutation	SNP	ENST00000310827.4	37	c.59A>G		.	.	.	.	.	.	.	.	.	.	A	31	5.086268	0.94100	.	.	ENSG00000136485	ENST00000310827;ENST00000431926;ENST00000415273	T;T;T	0.63913	-0.06;-0.07;1.56	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84074	0.5392	M	0.93898	3.47	0.80722	D	1	P;D	0.76494	0.943;0.999	P;D	0.72625	0.759;0.978	D	0.88486	0.3072	10	0.87932	D	0	-27.4781	15.806	0.78513	1.0:0.0:0.0:0.0	.	20;20	B4E039;P61962	.;DCAF7_HUMAN	C	20	ENSP00000308344:Y20C;ENSP00000402312:Y20C;ENSP00000403920:Y20C	ENSP00000308344:Y20C	Y	+	2	0	DCAF7	58981829	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.623000	0.90957	2.142000	0.66516	0.459000	0.35465	TAC		0.637	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005828		4	117	0	0	0	1	0	4	117				
EIF3C	8663	broad.mit.edu	37	16	28734556	28734556	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:28734556A>G	ENST00000331666.6	+	9	1034	c.848A>G	c.(847-849)gAc>gGc	p.D283G	EIF3C_ENST00000395587.1_Missense_Mutation_p.D283G|EIF3C_ENST00000564243.1_Missense_Mutation_p.D273G|EIF3C_ENST00000566866.1_Missense_Mutation_p.D283G|EIF3C_ENST00000566501.1_Missense_Mutation_p.D283G					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						AAGAAGCACGACAGGAAATCC	0.572																																						ENST00000331666.6																			0				lung(5)|skin(1)	6						c.(847-849)gAc>gGc		eukaryotic translation initiation factor 3, subunit C							300.0	339.0	326.0					16																	28734556		2197	4300	6497	SO:0001583	missense	8663					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr16:28734556A>G	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"""eukaryotic translation initiation factor 3, subunit 8, 110kDa"""	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.848A>G	16.37:g.28734556A>G	ENSP00000332604:p.Asp283Gly					EIF3C_ENST00000566866.1_Missense_Mutation_p.D283G|EIF3C_ENST00000564243.1_Missense_Mutation_p.D273G|EIF3C_ENST00000395587.1_Missense_Mutation_p.D283G|EIF3C_ENST00000566501.1_Missense_Mutation_p.D283G	p.D283G			Q99613	EIF3C_HUMAN			9	1034	+			283						Missense_Mutation	SNP	ENST00000331666.6	37	c.848A>G	CCDS10638.1	.	.	.	.	.	.	.	.	.	.	.	7.115	0.576886	0.13686	.	.	ENSG00000184110	ENST00000395587;ENST00000331666;ENST00000537985;ENST00000395583;ENST00000454461	.	.	.	4.23	4.23	0.50019	Eukaryotic translation initiation factor 3 subunit 8, N-terminal (1);	0.600004	0.17055	N	0.188766	T	0.30603	0.0770	N	0.03608	-0.345	0.39257	D	0.964134	B;B;B	0.23650	0.089;0.05;0.089	B;B;B	0.26094	0.066;0.063;0.066	T	0.25363	-1.0134	9	0.51188	T	0.08	.	11.2726	0.49148	1.0:0.0:0.0:0.0	.	273;69;283	B4E1D5;B3KNZ4;Q99613	.;.;EIF3C_HUMAN	G	283;283;268;131;105	.	ENSP00000332604:D283G	D	+	2	0	EIF3C	28642057	1.000000	0.71417	0.982000	0.44146	0.032000	0.12392	5.118000	0.64673	1.909000	0.55274	0.446000	0.29264	GAC		0.572	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		12	626	0	0	0	1	0	12	626				
RUSC2	9853	broad.mit.edu	37	9	35548395	35548395	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35548395A>G	ENST00000455600.1	+	2	2446	c.1877A>G	c.(1876-1878)cAc>cGc	p.H626R		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	626						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CAGGGACCCCACTCCAGTGAG	0.647																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1876-1878)cAc>cGc		RUN and SH3 domain containing 2							52.0	49.0	50.0					9																	35548395		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35548395A>G	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1877A>G	9.37:g.35548395A>G	ENSP00000393922:p.His626Arg						p.H626R	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	2446	+			626					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.1877A>G	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.112965	0.37242	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.20738	2.05;2.05	5.86	3.52	0.40303	.	0.421346	0.23941	N	0.043043	T	0.08714	0.0216	N	0.08118	0	0.23056	N	0.998363	B	0.02656	0.0	B	0.01281	0.0	T	0.34725	-0.9817	10	0.13853	T	0.58	-3.2088	6.7151	0.23298	0.7357:0.1366:0.1277:0.0	.	626	Q8N2Y8	RUSC2_HUMAN	R	626	ENSP00000355177:H626R;ENSP00000393922:H626R	ENSP00000355177:H626R	H	+	2	0	RUSC2	35538395	0.041000	0.20044	1.000000	0.80357	0.908000	0.53690	1.512000	0.35812	1.027000	0.39758	0.533000	0.62120	CAC		0.647	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		20	67	0	0	0	1	0	20	67				
LRRC75A	388341	broad.mit.edu	37	17	16365661	16365661	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:16365661A>G	ENST00000409083.3	-	2	448	c.286T>C	c.(286-288)Tat>Cat	p.Y96H	C17orf76-AS1_ENST00000579473.1_RNA|FAM211A_ENST00000470794.1_Missense_Mutation_p.Y96H|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000580770.1_RNA	NM_207387.3	NP_997270.2														lung(1)	1						GCGTAGCGATACAGAACGTCG	0.622																																						ENST00000409083.3																			0				lung(1)	1						c.(286-288)Tat>Cat		family with sequence similarity 211, member A							183.0	134.0	150.0					17																	16365661		2203	4300	6503	SO:0001583	missense	388341							g.chr17:16365661A>G																												ENST00000409083.3:c.286T>C	17.37:g.16365661A>G	ENSP00000386504:p.Tyr96His					C17orf76-AS1_ENST00000579473.1_RNA|FAM211A_ENST00000470794.1_Missense_Mutation_p.Y96H|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA	p.Y96H	NM_207387.3	NP_997270.2	Q8NAA5	CQ076_HUMAN			2	448	-			96						Missense_Mutation	SNP	ENST00000409083.3	37	c.286T>C	CCDS11178.2	.	.	.	.	.	.	.	.	.	.	A	22.5	4.293271	0.80914	.	.	ENSG00000181350	ENST00000409083;ENST00000470794	T	0.64085	-0.08	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.72045	0.3412	L	0.51914	1.62	0.43426	D	0.995585	D;D	0.89917	0.999;1.0	D;D	0.91635	0.974;0.999	T	0.73820	-0.3862	10	0.59425	D	0.04	.	11.5248	0.50573	1.0:0.0:0.0:0.0	.	96;96	Q8NAA5;Q8NAA5-2	CQ076_HUMAN;.	H	96	ENSP00000419502:Y96H	ENSP00000386504:Y96H	Y	-	1	0	C17orf76	16306386	1.000000	0.71417	0.994000	0.49952	0.949000	0.60115	8.361000	0.90098	1.912000	0.55364	0.402000	0.26972	TAT		0.622	FAM211A-001	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130461.2			17	49	0	0	0	1	0	17	49				
CORO1B	57175	broad.mit.edu	37	11	67208934	67208934	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:67208934T>C	ENST00000341356.5	-	5	616	c.506A>G	c.(505-507)tAc>tGc	p.Y169C	CORO1B_ENST00000539724.1_5'Flank|CORO1B_ENST00000393893.1_Missense_Mutation_p.Y169C|CORO1B_ENST00000453768.2_Missense_Mutation_p.Y169C|CORO1B_ENST00000545016.1_3'UTR	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	169					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GTCCAGGCGGTACAGCTCCTC	0.607																																						ENST00000393893.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(505-507)tAc>tGc		coronin, actin binding protein, 1B							151.0	116.0	128.0					11																	67208934		2199	4294	6493	SO:0001583	missense	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67208934T>C	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.506A>G	11.37:g.67208934T>C	ENSP00000340211:p.Tyr169Cys					CORO1B_ENST00000453768.2_Missense_Mutation_p.Y169C|CORO1B_ENST00000545016.1_3'UTR|CORO1B_ENST00000341356.5_Missense_Mutation_p.Y169C	p.Y169C	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		6	609	-			169					B2RD45	Missense_Mutation	SNP	ENST00000341356.5	37	c.506A>G	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618437	0.28801	.	.	ENSG00000172725	ENST00000393893;ENST00000341356;ENST00000393886;ENST00000453768	T;T;T	0.29397	5.01;5.01;1.57	4.71	2.33	0.28932	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.230527	0.22521	N	0.058963	T	0.23210	0.0561	L	0.28504	0.86	0.42395	D	0.992544	B;B	0.18610	0.029;0.006	B;B	0.29267	0.1;0.02	T	0.05370	-1.0889	10	0.46703	T	0.11	-19.4999	9.1582	0.37005	0.4257:0.0:0.0:0.5743	.	169;169	E7EW44;Q9BR76	.;COR1B_HUMAN	C	169;169;196;169	ENSP00000377471:Y169C;ENSP00000340211:Y169C;ENSP00000416006:Y169C	ENSP00000340211:Y169C	Y	-	2	0	CORO1B	66965510	0.260000	0.24053	1.000000	0.80357	0.732000	0.41865	2.021000	0.41020	0.293000	0.22520	-0.259000	0.10710	TAC		0.607	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		20	43	0	0	0	1	0	20	43				
CMAS	55907	broad.mit.edu	37	12	22218161	22218161	+	Silent	SNP	T	T	C	rs544039851		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:22218161T>C	ENST00000229329.2	+	8	1351	c.1221T>C	c.(1219-1221)tgT>tgC	p.C407C		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	407					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						TTTGCAAATGTAATGGTGGCC	0.438													T|||	1	0.000199681	0.0008	0.0	5008	,	,		17747	0.0		0.0	False		,,,				2504	0.0					ENST00000229329.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1219-1221)tgT>tgC		cytidine monophosphate N-acetylneuraminic acid synthetase							164.0	164.0	164.0					12																	22218161		2203	4300	6503	SO:0001819	synonymous_variant	55907				lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity	g.chr12:22218161T>C	AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.1221T>C	12.37:g.22218161T>C							p.C407C	NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN			8	1351	+			407					Q96AX5|Q9NQZ0	Silent	SNP	ENST00000229329.2	37	c.1221T>C	CCDS8696.1																																																																																				0.438	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686		45	156	0	0	0	1	0	45	156				
CDH12	1010	broad.mit.edu	37	5	21751992	21751992	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:21751992C>T	ENST00000382254.1	-	15	3325	c.2239G>A	c.(2239-2241)Gtg>Atg	p.V747M	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.V707M|CDH12_ENST00000504376.2_Missense_Mutation_p.V747M|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	747					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GACTCTGCCACGGACCCACTC	0.512										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2239-2241)Gtg>Atg		cadherin 12, type 2 (N-cadherin 2)							170.0	151.0	158.0					5																	21751992		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21751992C>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2239G>A	5.37:g.21751992C>T	ENSP00000371689:p.Val747Met	HNSCC(59;0.17)				CDH12_ENST00000522262.1_Missense_Mutation_p.V707M|CDH12_ENST00000504376.2_Missense_Mutation_p.V747M|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA	p.V747M	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			15	3325	-			747					B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.2239G>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781247	0.31502	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.78364	-1.17;-1.17;-1.17	4.94	0.576	0.17380	Cadherin, cytoplasmic domain (1);	0.484875	0.22304	N	0.061823	D	0.82614	0.5075	M	0.88450	2.955	0.38068	D	0.936284	P;P	0.46457	0.878;0.786	P;B	0.52066	0.689;0.347	T	0.80612	-0.1305	10	0.62326	D	0.03	.	5.4961	0.16804	0.0:0.585:0.1397:0.2753	.	707;747	B7Z2U6;P55289	.;CAD12_HUMAN	M	747;747;707	ENSP00000423577:V747M;ENSP00000371689:V747M;ENSP00000428786:V707M	ENSP00000371689:V747M	V	-	1	0	CDH12	21787749	0.427000	0.25514	0.000000	0.03702	0.117000	0.20001	2.235000	0.43044	0.023000	0.15187	0.467000	0.42956	GTG		0.512	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		14	104	0	0	0	1	0	14	104				
KANSL1	284058	broad.mit.edu	37	17	44111533	44111533	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:44111533G>A	ENST00000262419.6	-	11	3130	c.2660C>T	c.(2659-2661)aCg>aTg	p.T887M	RP11-669E14.6_ENST00000570454.1_RNA|KANSL1_ENST00000393476.3_Missense_Mutation_p.T181M|KANSL1_ENST00000574590.1_Missense_Mutation_p.T887M|KANSL1_ENST00000575318.1_Missense_Mutation_p.T823M|KANSL1_ENST00000572904.1_Missense_Mutation_p.T887M|KANSL1_ENST00000432791.1_Missense_Mutation_p.T887M	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	887	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CTACCTGGGCGTAAGGATTTC	0.463																																						ENST00000262419.6																			0											c.(2659-2661)aCg>aTg		KAT8 regulatory NSL complex subunit 1							186.0	144.0	158.0					17																	44111533		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44111533G>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2660C>T	17.37:g.44111533G>A	ENSP00000262419:p.Thr887Met					KANSL1_ENST00000574590.1_Missense_Mutation_p.T887M|KANSL1_ENST00000575318.1_Missense_Mutation_p.T823M|KANSL1_ENST00000432791.1_Missense_Mutation_p.T887M|KANSL1_ENST00000393476.3_Missense_Mutation_p.T181M|KANSL1_ENST00000572904.1_Missense_Mutation_p.T887M	p.T887M	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			11	3130	-			887					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.2660C>T	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235433	0.79800	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.53640	0.61;0.61;0.61	5.39	5.39	0.77823	.	0.200474	0.51477	D	0.000083	T	0.67933	0.2946	M	0.68317	2.08	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.988;0.969;0.998	T	0.70160	-0.4948	10	0.87932	D	0	-4.4279	17.024	0.86440	0.0:0.0:1.0:0.0	.	155;218;887;887	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	M	887;887;181	ENSP00000262419:T887M;ENSP00000387393:T887M;ENSP00000377117:T181M	ENSP00000262419:T887M	T	-	2	0	KIAA1267	41467380	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	9.330000	0.96422	2.704000	0.92352	0.655000	0.94253	ACG		0.463	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		9	30	0	0	0	1	0	9	30				
HIAT1	64645	broad.mit.edu	37	1	100527484	100527484	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:100527484A>G	ENST00000370152.3	+	5	601	c.465A>G	c.(463-465)gaA>gaG	p.E155E	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	155					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		AAGAGCATGAAAGAAGTATGG	0.358																																						ENST00000370152.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(463-465)gaA>gaG		hippocampus abundant transcript 1							170.0	155.0	160.0					1																	100527484		2203	4300	6503	SO:0001819	synonymous_variant	64645				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100527484A>G	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.465A>G	1.37:g.100527484A>G						RP4-714D9.2_ENST00000432294.1_RNA	p.E155E	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	5	601	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	155					Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Silent	SNP	ENST00000370152.3	37	c.465A>G	CCDS763.1	.	.	.	.	.	.	.	.	.	.	A	8.523	0.869165	0.17322	.	.	ENSG00000156875	ENST00000421661	.	.	.	5.59	3.29	0.37713	.	.	.	.	.	T	0.44953	0.1318	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36114	-0.9761	4	.	.	.	-21.0457	9.5789	0.39475	0.7952:0.0:0.2048:0.0	.	.	.	.	E	94	.	.	K	+	1	0	HIAT1	100300072	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.845000	0.48254	0.418000	0.25898	-0.256000	0.11100	AAG		0.358	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		12	66	0	0	0	1	0	12	66				
HDAC4	9759	broad.mit.edu	37	2	240111605	240111605	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:240111605A>T	ENST00000345617.3	-	4	1054	c.263T>A	c.(262-264)aTc>aAc	p.I88N	HDAC4_ENST00000541256.1_Missense_Mutation_p.I57N	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	88					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AGCGATGAGGATCTGCCTCTG	0.667																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(262-264)aTc>aAc		histone deacetylase 4							39.0	35.0	36.0					2																	240111605		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240111605A>T	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.263T>A	2.37:g.240111605A>T	ENSP00000264606:p.Ile88Asn					HDAC4_ENST00000541256.1_Missense_Mutation_p.I57N	p.I88N	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	4	1054	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	88					Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.263T>A	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.513610	0.64522	.	.	ENSG00000068024	ENST00000345617;ENST00000541256;ENST00000454542;ENST00000446876	T;T;T;T	0.50548	0.97;0.97;0.8;0.74	4.42	3.26	0.37387	Histone deacetylase, glutamine rich N-terminal domain (1);	0.434948	0.22714	N	0.056532	T	0.52917	0.1764	L	0.39898	1.24	0.80722	D	1	P;D;D;D;D	0.65815	0.927;0.989;0.995;0.989;0.989	P;P;D;P;P	0.63283	0.596;0.87;0.913;0.691;0.837	T	0.44159	-0.9346	9	.	.	.	.	9.9599	0.41691	0.9186:0.0:0.0814:0.0	.	83;57;57;56;88	B7Z8G5;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;HDAC4_HUMAN	N	88;57;57;61	ENSP00000264606:I88N;ENSP00000443057:I57N;ENSP00000405226:I57N;ENSP00000392912:I61N	.	I	-	2	0	HDAC4	239776542	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	8.779000	0.91792	0.688000	0.31529	-0.256000	0.11100	ATC		0.667	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		18	36	0	0	0	1	0	18	36				
SIK2	23235	broad.mit.edu	37	11	111583056	111583056	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:111583056C>T	ENST00000304987.3	+	9	1396	c.1223C>T	c.(1222-1224)gCg>gTg	p.A408V		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	408					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GGCTGTCAGGCGGAAGCTGCA	0.532																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(1222-1224)gCg>gTg		salt-inducible kinase 2							82.0	74.0	77.0					11																	111583056		2201	4297	6498	SO:0001583	missense	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111583056C>T	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1223C>T	11.37:g.111583056C>T	ENSP00000305976:p.Ala408Val						p.A408V	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			9	1396	+			408					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	ENST00000304987.3	37	c.1223C>T	CCDS8347.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946311	0.34377	.	.	ENSG00000170145	ENST00000304987	T	0.73681	-0.77	5.69	4.77	0.60923	.	0.205146	0.40908	D	0.000994	T	0.66790	0.2825	L	0.47716	1.5	0.44843	D	0.997859	B	0.28783	0.222	B	0.18561	0.022	T	0.64997	-0.6275	10	0.44086	T	0.13	.	14.2812	0.66213	0.0:0.7181:0.2819:0.0	.	408	Q9H0K1	SIK2_HUMAN	V	408	ENSP00000305976:A408V	ENSP00000305976:A408V	A	+	2	0	SIK2	111088266	0.976000	0.34144	0.894000	0.35097	0.082000	0.17680	2.352000	0.44080	1.389000	0.46526	0.655000	0.94253	GCG		0.532	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		10	59	0	0	0	1	0	10	59				
RASGRP3	25780	broad.mit.edu	37	2	33745628	33745628	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:33745628T>C	ENST00000403687.3	+	6	985	c.245T>C	c.(244-246)aTt>aCt	p.I82T	RASGRP3_ENST00000407811.1_Missense_Mutation_p.I82T|RASGRP3_ENST00000402538.3_Missense_Mutation_p.I82T	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	82	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AGGTACTGGATTCTGAAGTTT	0.383																																						ENST00000403687.3																			0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(244-246)aTt>aCt		RAS guanyl releasing protein 3 (calcium and DAG-regulated)							273.0	265.0	267.0					2																	33745628		1849	4095	5944	SO:0001583	missense	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33745628T>C	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.245T>C	2.37:g.33745628T>C	ENSP00000384192:p.Ile82Thr					RASGRP3_ENST00000402538.3_Missense_Mutation_p.I82T|RASGRP3_ENST00000407811.1_Missense_Mutation_p.I82T	p.I82T	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			6	985	+	all_hematologic(175;0.115)		82			N-terminal Ras-GEF.		D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	c.245T>C	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.712121	0.89112	.	.	ENSG00000152689	ENST00000402538;ENST00000437184;ENST00000403687;ENST00000444784;ENST00000423159;ENST00000407811	T;T;T;T;T;T	0.55588	0.51;1.54;0.51;1.54;1.54;0.51	5.96	5.96	0.96718	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.054481	0.64402	D	0.000001	T	0.73048	0.3537	M	0.76170	2.325	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.992	T	0.76258	-0.3025	10	0.87932	D	0	-16.6109	16.4484	0.83959	0.0:0.0:0.0:1.0	.	82;82	D6W583;Q8IV61	.;GRP3_HUMAN	T	82	ENSP00000385886:I82T;ENSP00000393866:I82T;ENSP00000384192:I82T;ENSP00000400602:I82T;ENSP00000388139:I82T;ENSP00000383917:I82T	ENSP00000385886:I82T	I	+	2	0	RASGRP3	33599132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.665000	0.83852	2.285000	0.76669	0.533000	0.62120	ATT		0.383	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		31	310	0	0	0	1	0	31	310				
STEAP2	261729	broad.mit.edu	37	7	89856547	89856547	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:89856547T>C	ENST00000287908.3	+	3	1148	c.755T>C	c.(754-756)aTa>aCa	p.I252T	STEAP2_ENST00000394626.1_Missense_Mutation_p.I252T|STEAP2_ENST00000402625.2_Missense_Mutation_p.I252T|STEAP2_ENST00000394629.2_Missense_Mutation_p.I252T|STEAP2_ENST00000394632.1_Missense_Mutation_p.I252T|STEAP2_ENST00000394622.2_Missense_Mutation_p.I252T|STEAP2_ENST00000394621.2_Missense_Mutation_p.I252T	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	252					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					AAAATTCCTATAGAGATTGTG	0.383																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(754-756)aTa>aCa		STEAP family member 2, metalloreductase							96.0	91.0	93.0					7																	89856547		2203	4300	6503	SO:0001583	missense	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856547T>C	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.755T>C	7.37:g.89856547T>C	ENSP00000287908:p.Ile252Thr					STEAP2_ENST00000394621.2_Missense_Mutation_p.I252T|STEAP2_ENST00000394626.1_Missense_Mutation_p.I252T|STEAP2_ENST00000394632.1_Missense_Mutation_p.I252T|STEAP2_ENST00000394629.2_Missense_Mutation_p.I252T|STEAP2_ENST00000394622.2_Missense_Mutation_p.I252T|STEAP2_ENST00000402625.2_Missense_Mutation_p.I252T	p.I252T	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			3	1148	+	all_hematologic(106;0.112)		252					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP	ENST00000287908.3	37	c.755T>C	CCDS5615.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349433	0.82132	.	.	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	T;T;T;T;T;T;T	0.09817	3.27;3.03;3.27;2.94;3.27;2.96;3.03	5.93	5.93	0.95920	.	0.169443	0.52532	D	0.000080	T	0.27967	0.0689	M	0.76727	2.345	0.48511	D	0.999663	P;P;P;P	0.52842	0.956;0.927;0.864;0.864	P;P;P;P	0.54889	0.763;0.584;0.597;0.597	T	0.00809	-1.1557	9	.	.	.	-17.9095	16.3798	0.83452	0.0:0.0:0.0:1.0	.	252;252;252;252	G5E9C6;Q6YPB2;Q8NFT2;B5MC02	.;.;STEA2_HUMAN;.	T	252	ENSP00000287908:I252T;ENSP00000378123:I252T;ENSP00000378120:I252T;ENSP00000378128:I252T;ENSP00000378119:I252T;ENSP00000384191:I252T;ENSP00000378125:I252T	.	I	+	2	0	STEAP2	89694483	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.271000	0.75665	0.533000	0.62120	ATA		0.383	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		15	70	0	0	0	1	0	15	70				
BLVRB	645	broad.mit.edu	37	19	40953925	40953925	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:40953925T>C	ENST00000263368.4	-	5	643	c.492A>G	c.(490-492)acA>acG	p.T164T	BLVRB_ENST00000595483.1_Silent_p.T121T	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	164					heme catabolic process (GO:0042167)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	biliverdin reductase activity (GO:0004074)|riboflavin reductase (NADPH) activity (GO:0042602)			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Riboflavin(DB00140)	CCAGGGTCACTGTGTACGCCC	0.552																																						ENST00000263368.4																			0				large_intestine(3)|lung(3)	6						c.(490-492)acA>acG		biliverdin reductase B (flavin reductase (NADPH))	NADH(DB00157)|Riboflavin(DB00140)						111.0	94.0	100.0					19																	40953925		2203	4300	6503	SO:0001819	synonymous_variant	645				heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity	g.chr19:40953925T>C	D26308	CCDS33029.1	19q13.1-q13.2	2011-09-14				ENSG00000090013	1.3.1.24, 1.5.1.30	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	1063	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 43U, member 1"""	600941	"""Flavin reductase"""	FLR		7656592, 19027726	Standard	NM_000713		Approved	SDR43U1	uc002onw.2	P30043		ENST00000263368.4:c.492A>G	19.37:g.40953925T>C						BLVRB_ENST00000595483.1_Silent_p.T121T	p.T164T	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		5	643	-			164					A6NKD8|B2R5C6|P32078|P53005|Q32LZ2	Silent	SNP	ENST00000263368.4	37	c.492A>G	CCDS33029.1																																																																																				0.552	BLVRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462563.1			21	59	0	0	0	1	0	21	59				
ZNFX1	57169	broad.mit.edu	37	20	47887207	47887207	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:47887207A>T	ENST00000396105.1	-	3	1388	c.1142T>A	c.(1141-1143)gTc>gAc	p.V381D	ZNFX1_ENST00000371754.4_Missense_Mutation_p.V381D|ZNFX1_ENST00000371752.1_Missense_Mutation_p.V381D	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	381							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAAAGGTCTGACGAAATCTTC	0.473																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(1141-1143)gTc>gAc		zinc finger, NFX1-type containing 1							82.0	82.0	82.0					20																	47887207		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47887207A>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1142T>A	20.37:g.47887207A>T	ENSP00000379412:p.Val381Asp					ZNFX1_ENST00000371754.4_Missense_Mutation_p.V381D|ZNFX1_ENST00000371752.1_Missense_Mutation_p.V381D	p.V381D	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	1388	-			381					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.1142T>A	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	A	19.14	3.770408	0.69992	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.88896	-2.17;-2.44;-2.44;-1.12;-1.82	5.85	5.85	0.93711	.	0.056923	0.64402	D	0.000002	D	0.94258	0.8156	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.94869	0.8028	10	0.87932	D	0	-22.9482	15.0595	0.71942	1.0:0.0:0.0:0.0	.	381	Q9P2E3	ZNFX1_HUMAN	D	381;381;381;381;381;185	ENSP00000360819:V381D;ENSP00000360817:V381D;ENSP00000379412:V381D;ENSP00000360809:V381D;ENSP00000413800:V185D	ENSP00000360809:V381D	V	-	2	0	ZNFX1	47320614	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.283000	0.95860	2.238000	0.73509	0.533000	0.62120	GTC		0.473	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		31	87	0	0	0	1	0	31	87				
CILP	8483	broad.mit.edu	37	15	65490345	65490345	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:65490345C>T	ENST00000261883.4	-	9	2445	c.2279G>A	c.(2278-2280)cGg>cAg	p.R760Q		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	760					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCTCTCACTCCGGTAGGCCCT	0.547																																						ENST00000261883.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(2278-2280)cGg>cAg		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							120.0	123.0	122.0					15																	65490345		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65490345C>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2279G>A	15.37:g.65490345C>T	ENSP00000261883:p.Arg760Gln						p.R760Q	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			9	2445	-			760					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.2279G>A	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895174	0.52121	.	.	ENSG00000138615	ENST00000261883	T	0.09817	2.94	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	L	0.50919	1.6	0.58432	D	0.999998	D	0.71674	0.998	P	0.56648	0.803	T	0.03249	-1.1056	10	0.11794	T	0.64	-18.9104	18.1161	0.89555	0.0:1.0:0.0:0.0	.	760	O75339	CILP1_HUMAN	Q	760	ENSP00000261883:R760Q	ENSP00000261883:R760Q	R	-	2	0	CILP	63277398	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.772000	0.85439	2.584000	0.87258	0.563000	0.77884	CGG		0.547	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		61	161	0	0	0	1	0	61	161				
STXBP3	6814	broad.mit.edu	37	1	109318958	109318958	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:109318958A>G	ENST00000370008.3	+	8	647	c.597A>G	c.(595-597)aaA>aaG	p.K199K	STXBP3_ENST00000485167.1_3'UTR	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	199	Mediates interaction with DOC2B. {ECO:0000250}.				blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TTTCTAGTAAACCTCTAGATA	0.279																																						ENST00000370008.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13						c.(595-597)aaA>aaG		syntaxin binding protein 3							55.0	55.0	55.0					1																	109318958		2203	4299	6502	SO:0001819	synonymous_variant	6814				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	g.chr1:109318958A>G	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.597A>G	1.37:g.109318958A>G						STXBP3_ENST00000485167.1_3'UTR	p.K199K	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)	8	647	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	199			Mediates interaction with DOC2B (By similarity).		A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Silent	SNP	ENST00000370008.3	37	c.597A>G	CCDS790.1																																																																																				0.279	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		4	21	0	0	0	1	0	4	21				
XIRP2	129446	broad.mit.edu	37	2	168105300	168105300	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:168105300A>G	ENST00000409195.1	+	9	7487	c.7398A>G	c.(7396-7398)gtA>gtG	p.V2466V	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.V2244V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V2466V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2291					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAAAAAAGTAATGGTGATGA	0.368																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(7396-7398)gtA>gtG		xin actin-binding repeat containing 2							81.0	78.0	79.0					2																	168105300		1890	4136	6026	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105300A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7398A>G	2.37:g.168105300A>G						XIRP2_ENST00000409273.1_Silent_p.V2244V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V2466V|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	p.V2466V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	7487	+			2291					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.7398A>G	CCDS42769.1																																																																																				0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		10	90	0	0	0	1	0	10	90				
TLL2	7093	broad.mit.edu	37	10	98127953	98127953	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:98127953A>G	ENST00000357947.3	-	21	3165	c.2940T>C	c.(2938-2940)ggT>ggC	p.G980G		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	980	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCAGGGAATCACCTGCAGAGT	0.478																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(2938-2940)ggT>ggC		tolloid-like 2							132.0	120.0	124.0					10																	98127953		2203	4300	6503	SO:0001819	synonymous_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98127953A>G	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2940T>C	10.37:g.98127953A>G							p.G980G	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	21	3165	-		Colorectal(252;0.0846)	980			CUB 5.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	c.2940T>C	CCDS7449.1																																																																																				0.478	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			10	80	0	0	0	1	0	10	80				
UTP14A	10813	broad.mit.edu	37	X	129059902	129059902	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:129059902A>G	ENST00000394422.3	+	13	1785	c.1757A>G	c.(1756-1758)gAa>gGa	p.E586G	UTP14A_ENST00000371042.3_Missense_Mutation_p.E418G|UTP14A_ENST00000371051.5_Missense_Mutation_p.E532G|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.E534G	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	586					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CAGGAAGATGAAGAGGAGAGA	0.483											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(1756-1758)gAa>gGa		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							57.0	52.0	54.0					X																	129059902		2203	4299	6502	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129059902A>G	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1757A>G	X.37:g.129059902A>G	ENSP00000377944:p.Glu586Gly		OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1569	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Missense_Mutation_p.E418G|UTP14A_ENST00000425117.2_Missense_Mutation_p.E534G|UTP14A_ENST00000371051.5_Missense_Mutation_p.E532G	p.E586G	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			13	1785	+			586					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.1757A>G	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.235920	0.39498	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.41	4.25	0.50352	.	0.677886	0.16077	N	0.230713	T	0.44030	0.1274	M	0.79343	2.45	0.47183	D	0.999342	P;D;P	0.89917	0.909;1.0;0.767	P;D;P	0.75484	0.58;0.986;0.609	T	0.23976	-1.0173	10	0.37606	T	0.19	-12.9751	9.7665	0.40563	0.9165:0.0:0.0835:0.0	.	532;534;586	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	G	534;586;532;418	ENSP00000388669:E534G;ENSP00000377944:E586G;ENSP00000360090:E532G;ENSP00000360081:E418G	ENSP00000360081:E418G	E	+	2	0	UTP14A	128887583	0.999000	0.42202	0.987000	0.45799	0.262000	0.26303	4.094000	0.57721	1.913000	0.55393	0.486000	0.48141	GAA		0.483	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		10	6	0	0	0	1	0	10	6				
ZNF662	389114	broad.mit.edu	37	3	42950329	42950329	+	Nonsense_Mutation	SNP	C	C	T	rs201313857		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:42950329C>T	ENST00000541208.1	+	3	448	c.79C>T	c.(79-81)Cga>Tga	p.R27*	ZNF662_ENST00000422021.1_Nonsense_Mutation_p.R27*|ZNF662_ENST00000440367.2_Nonsense_Mutation_p.R27*|ZNF662_ENST00000328199.6_Nonsense_Mutation_p.R87*|ZNF662_ENST00000430067.2_3'UTR|KRBOX1_ENST00000426937.1_5'UTR			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CCAGCTGGAGCGAGGGGAAAC	0.577																																						ENST00000541208.1																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(79-81)Cga>Tga		zinc finger protein 662							121.0	125.0	123.0					3																	42950329		2203	4300	6503	SO:0001587	stop_gained	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42950329C>T	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.79C>T	3.37:g.42950329C>T	ENSP00000446208:p.Arg27*					ZNF662_ENST00000440367.2_Nonsense_Mutation_p.R27*|ZNF662_ENST00000328199.6_Nonsense_Mutation_p.R87*|KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000422021.1_Nonsense_Mutation_p.R27*|ZNF662_ENST00000430067.2_3'UTR	p.R27*			Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	3	448	+			27			KRAB.		A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Nonsense_Mutation	SNP	ENST00000541208.1	37	c.79C>T	CCDS2708.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702108	0.48307	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208;ENST00000422021	.	.	.	3.08	2.19	0.27852	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	4.5576	0.12143	0.0:0.6391:0.229:0.1318	.	.	.	.	X	27;87;27;27	.	ENSP00000329264:R87X	R	+	1	2	ZNF662	42925333	0.001000	0.12720	0.226000	0.23910	0.213000	0.24496	0.065000	0.14466	0.637000	0.30526	-0.258000	0.10820	CGA		0.577	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	NM_207404		57	146	0	0	0	1	0	57	146				
DCAF15	90379	broad.mit.edu	37	19	14071164	14071164	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:14071164T>C	ENST00000254337.6	+	11	1613	c.1592T>C	c.(1591-1593)gTc>gCc	p.V531A		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	531					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TTCGAGACAGTCAGTGTAGGC	0.612											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(1591-1593)gTc>gCc		DDB1 and CUL4 associated factor 15							136.0	118.0	124.0					19																	14071164		2203	4300	6503	SO:0001583	missense	90379							g.chr19:14071164T>C	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1592T>C	19.37:g.14071164T>C	ENSP00000254337:p.Val531Ala		OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	692		p.V531A	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			11	1613	+			531					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.1592T>C	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	t	25.6	4.658600	0.88154	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.35	4.35	0.52113	.	0.000000	0.64402	D	0.000006	T	0.46600	0.1401	L	0.32530	0.975	0.53005	D	0.999965	D	0.61697	0.99	P	0.46339	0.513	T	0.53049	-0.8493	9	0.87932	D	0	-26.9513	12.8094	0.57631	0.0:0.0:0.0:1.0	.	531	Q66K64	DCA15_HUMAN	A	531	.	ENSP00000254337:V531A	V	+	2	0	DCAF15	13932164	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.958000	0.76025	1.748000	0.51833	0.459000	0.35465	GTC		0.612	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		38	88	0	0	0	1	0	38	88				
LRRC4B	94030	broad.mit.edu	37	19	51021586	51021586	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:51021586C>T	ENST00000599957.1	-	3	1581	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R	LRRC4B_ENST00000389201.3_Missense_Mutation_p.G462R			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	462	Gly-rich.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ccggtgcccccggccgccacG	0.716																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1384-1386)Ggg>Agg		leucine rich repeat containing 4B							18.0	21.0	20.0					19																	51021586		1905	4075	5980	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021586C>T	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1384G>A	19.37:g.51021586C>T	ENSP00000471502:p.Gly462Arg					LRRC4B_ENST00000389201.3_Missense_Mutation_p.G462R	p.G462R			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1581	-		all_neural(266;0.131)	462			Gly-rich.		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.1384G>A	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	C	8.595	0.885446	0.17540	.	.	ENSG00000131409	ENST00000389201	T	0.59364	0.27	3.69	3.69	0.42338	.	.	.	.	.	T	0.57975	0.2090	N	0.22421	0.69	0.26350	N	0.977229	D	0.76494	0.999	D	0.78314	0.991	T	0.44862	-0.9300	9	0.11182	T	0.66	.	11.1186	0.48275	0.0:1.0:0.0:0.0	.	462	Q9NT99	LRC4B_HUMAN	R	462	ENSP00000373853:G462R	ENSP00000373853:G462R	G	-	1	0	LRRC4B	55713398	1.000000	0.71417	0.604000	0.28916	0.541000	0.35023	3.499000	0.53310	2.064000	0.61679	0.563000	0.77884	GGG		0.716	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		15	35	0	0	0	1	0	15	35				
CLEC3A	10143	broad.mit.edu	37	16	78064610	78064610	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:78064610C>T	ENST00000575655.1	+	3	547	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C	CLEC3A_ENST00000565808.1_3'UTR|CLEC3A_ENST00000299642.4_Missense_Mutation_p.R165C|RP11-281J9.2_ENST00000563114.1_RNA	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	156	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CAACTGGGACCGTGCACAGCC	0.532																																						ENST00000299642.4																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(493-495)Cgt>Tgt		C-type lectin domain family 3, member A							136.0	120.0	125.0					16																	78064610		2198	4300	6498	SO:0001583	missense	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064610C>T	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.466C>T	16.37:g.78064610C>T	ENSP00000460682:p.Arg156Cys					RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Missense_Mutation_p.R156C|CLEC3A_ENST00000565808.1_3'UTR	p.R165C	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN			3	578	+			156			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	ENST00000575655.1	37	c.493C>T		.	.	.	.	.	.	.	.	.	.	C	16.99	3.274844	0.59649	.	.	ENSG00000166509	ENST00000299642	.	.	.	5.77	2.74	0.32292	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.304579	0.42053	D	0.000773	T	0.73071	0.3540	M	0.85373	2.75	0.58432	D	0.999997	P	0.52316	0.952	P	0.48840	0.592	T	0.78288	-0.2262	9	0.56958	D	0.05	-0.8728	17.4462	0.87579	0.322:0.678:0.0:0.0	.	156	O75596	CLC3A_HUMAN	C	156	.	ENSP00000299642:R156C	R	+	1	0	CLEC3A	76622111	0.915000	0.31059	0.253000	0.24343	0.605000	0.37080	2.426000	0.44731	0.151000	0.19162	-0.808000	0.03180	CGT		0.532	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752		35	73	0	0	0	1	0	35	73				
MIR99AHG	388815	broad.mit.edu	37	21	17443617	17443617	+	lincRNA	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:17443617G>T	ENST00000458468.1	+	0	211					NR_027790.1																						GAAAGTATCTGGTTCAACCGC	0.537																																						ENST00000458468.1																			0																				88.0	82.0	84.0					21																	17443617		2203	4300	6503			388815							g.chr21:17443617G>T																													21.37:g.17443617G>T								NR_027790.1						0	211	+									RNA	SNP	ENST00000458468.1	37																																																																																						0.537	LINC00478-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000158029.1			34	126	1	0	6.90743e-12	1	7.18621e-12	34	126				
FLG	2312	broad.mit.edu	37	1	152283287	152283287	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:152283287A>T	ENST00000368799.1	-	3	4110	c.4075T>A	c.(4075-4077)Tcc>Acc	p.S1359T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1359	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)			TGGTGGCGGGATCCATGTCTT	0.547									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.(4075-4077)Tcc>Acc		filaggrin							374.0	354.0	361.0					1																	152283287		2203	4298	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283287A>T	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.4075T>A	1.37:g.152283287A>T	ENSP00000357789:p.Ser1359Thr					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S1359T	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4110	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1359			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4075T>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	A	9.551	1.115852	0.20795	.	.	ENSG00000143631	ENST00000368799	T	0.10099	2.91	3.37	-6.74	0.01743	.	.	.	.	.	T	0.03783	0.0107	M	0.71581	2.175	0.09310	N	1	P	0.51791	0.948	P	0.51918	0.684	T	0.18808	-1.0325	9	0.10902	T	0.67	.	0.7129	0.00927	0.3231:0.1252:0.3035:0.2482	.	1359	P20930	FILA_HUMAN	T	1359	ENSP00000357789:S1359T	ENSP00000357789:S1359T	S	-	1	0	FLG	150549911	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.973000	0.00666	-2.229000	0.00720	-0.522000	0.04353	TCC		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		193	591	0	0	0	1	0	193	591				
LAMP1	3916	broad.mit.edu	37	13	113975727	113975727	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:113975727T>C	ENST00000332556.4	+	7	1079	c.885T>C	c.(883-885)agT>agC	p.S295S	LAMP1_ENST00000397181.3_Silent_p.S242S	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	295	Second lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			AGAATGCAAGTTCTAGCCGGT	0.448																																						ENST00000332556.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16						c.(883-885)agT>agC		lysosomal-associated membrane protein 1							88.0	89.0	89.0					13																	113975727		1840	4085	5925	SO:0001819	synonymous_variant	3916					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction		g.chr13:113975727T>C	J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"""CD molecules"""	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.885T>C	13.37:g.113975727T>C						LAMP1_ENST00000397181.3_Silent_p.S242S	p.S295S	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		7	1079	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	295			Second lumenal domain.		B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Silent	SNP	ENST00000332556.4	37	c.885T>C	CCDS41909.1																																																																																				0.448	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2			22	62	0	0	0	1	0	22	62				
ENTPD3	956	broad.mit.edu	37	3	40433581	40433581	+	Silent	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:40433581A>T	ENST00000301825.3	+	3	226	c.108A>T	c.(106-108)gtA>gtT	p.V36V	ENTPD3_ENST00000456402.1_Silent_p.V36V|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000445129.1_Silent_p.V36V|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	36					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		GTATTGTGGTACTTGTGAGTA	0.498																																						ENST00000301825.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(106-108)gtA>gtT		ectonucleoside triphosphate diphosphohydrolase 3							183.0	167.0	172.0					3																	40433581		2203	4300	6503	SO:0001819	synonymous_variant	956					integral to membrane	ATP binding|hydrolase activity	g.chr3:40433581A>T	AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.108A>T	3.37:g.40433581A>T						ENTPD3_ENST00000445129.1_Silent_p.V36V|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000456402.1_Silent_p.V36V|ENTPD3-AS1_ENST00000439293.1_RNA	p.V36V	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	3	226	+			36					B2R8D0|G5E9N0|O60495|Q8N6K2	Silent	SNP	ENST00000301825.3	37	c.108A>T	CCDS2691.1																																																																																				0.498	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248		29	110	0	0	0	1	0	29	110				
DOCK7	85440	broad.mit.edu	37	1	62971474	62971474	+	Missense_Mutation	SNP	G	G	A	rs200226943		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:62971474G>A	ENST00000340370.5	-	35	4414	c.4397C>T	c.(4396-4398)aCg>aTg	p.T1466M	DOCK7_ENST00000251157.5_Missense_Mutation_p.T1488M	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1497					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTTGGATTCCGTTACAGAAAC	0.368													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15490	0.0		0.0	False		,,,				2504	0.0					ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(4462-4464)aCg>aTg		dedicator of cytokinesis 7							101.0	83.0	89.0					1																	62971474		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62971474G>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4397C>T	1.37:g.62971474G>A	ENSP00000340742:p.Thr1466Met					DOCK7_ENST00000340370.5_Missense_Mutation_p.T1466M	p.T1488M	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			36	4496	-			1497					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.4463C>T	CCDS30734.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.10	2.733016	0.48939	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	T;T	0.46819	0.86;0.86	5.06	5.06	0.68205	.	0.048286	0.85682	D	0.000000	T	0.46946	0.1419	L	0.27053	0.805	0.80722	D	1	P;P;P;P;B;B	0.38582	0.482;0.638;0.616;0.616;0.01;0.002	B;B;P;P;B;B	0.46629	0.386;0.282;0.522;0.522;0.017;0.017	T	0.39563	-0.9608	10	0.34782	T	0.22	.	18.4148	0.90565	0.0:0.0:1.0:0.0	.	1497;1488;1466;1457;1457;1488	Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	DOCK7_HUMAN;.;.;.;.;.	M	1497;1488;1466;227	ENSP00000251157:T1488M;ENSP00000340742:T1466M	ENSP00000251157:T1488M	T	-	2	0	DOCK7	62744062	1.000000	0.71417	0.996000	0.52242	0.909000	0.53808	9.869000	0.99810	2.339000	0.79563	0.591000	0.81541	ACG		0.368	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		15	46	0	0	0	1	0	15	46				
ITSN1	6453	broad.mit.edu	37	21	35257786	35257786	+	Silent	SNP	C	C	T	rs191579985		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:35257786C>T	ENST00000381318.3	+	38	5091	c.4803C>T	c.(4801-4803)aaC>aaT	p.N1601N	ITSN1_ENST00000437442.2_Silent_p.N1540N|ITSN1_ENST00000399367.3_Silent_p.N1596N|ITSN1_ENST00000381285.4_Silent_p.N1601N|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1601	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGATGGTGAACGTGGTTGAAG	0.547																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(4801-4803)aaC>aaT		intersectin 1 (SH3 domain protein)							239.0	203.0	215.0					21																	35257786		2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35257786C>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4803C>T	21.37:g.35257786C>T						ITSN1_ENST00000437442.2_Silent_p.N1540N|ITSN1_ENST00000381285.4_Silent_p.N1601N|ITSN1_ENST00000399367.3_Silent_p.N1596N|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron	p.N1601N	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			38	5091	+			1601			C2.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.4803C>T	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302300	0.23736	.	.	ENSG00000205726	ENST00000381284	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	T	0.61924	0.2386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59537	-0.7436	4	.	.	.	.	10.2409	0.43312	0.0:0.8495:0.0:0.1505	.	.	.	.	C	281	.	.	R	+	1	0	ITSN1	34179656	0.953000	0.32496	1.000000	0.80357	0.999000	0.98932	0.108000	0.15396	2.773000	0.95371	0.643000	0.83706	CGT		0.547	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		32	98	0	0	0	1	0	32	98				
SH2D3C	10044	broad.mit.edu	37	9	130511746	130511746	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:130511746C>T	ENST00000314830.8	-	5	996	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000420366.1_Missense_Mutation_p.A137T|SH2D3C_ENST00000373276.3_Missense_Mutation_p.A227T|SH2D3C_ENST00000373277.4_Missense_Mutation_p.A138T|SH2D3C_ENST00000373274.3_Missense_Mutation_p.A135T|SH2D3C_ENST00000471939.1_Intron	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	295	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGCACGAGGGCGGGCACGTGG	0.587																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(883-885)Gcc>Acc		SH2 domain containing 3C							90.0	77.0	81.0					9																	130511746		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130511746C>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.883G>A	9.37:g.130511746C>T	ENSP00000317817:p.Ala295Thr					SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373277.4_Missense_Mutation_p.A138T|SH2D3C_ENST00000420366.1_Missense_Mutation_p.A137T|SH2D3C_ENST00000373276.3_Missense_Mutation_p.A227T|SH2D3C_ENST00000373274.3_Missense_Mutation_p.A135T|SH2D3C_ENST00000429553.1_5'UTR	p.A295T	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			5	996	-			295			SH2.		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.883G>A	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604586	0.66445	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000314830;ENST00000414380	T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.67	5.67	0.87782	SH2 motif (4);	0.096447	0.64402	D	0.000001	T	0.67202	0.2868	M	0.66378	2.025	0.80722	D	1	P;P;D;P;P	0.53745	0.779;0.95;0.962;0.774;0.72	P;P;B;B;B	0.48030	0.532;0.564;0.297;0.116;0.287	T	0.63510	-0.6621	10	0.19590	T	0.45	-8.5871	18.7489	0.91806	0.0:1.0:0.0:0.0	.	135;295;227;138;137	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	T	138;137;227;135;295;112	ENSP00000362374:A138T;ENSP00000388536:A137T;ENSP00000362373:A227T;ENSP00000362371:A135T;ENSP00000317817:A295T;ENSP00000413760:A112T	ENSP00000317817:A295T	A	-	1	0	SH2D3C	129551567	1.000000	0.71417	0.958000	0.39756	0.891000	0.51852	5.329000	0.65892	2.686000	0.91538	0.561000	0.74099	GCC		0.587	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		15	58	0	0	0	1	0	15	58				
MAP6	4135	broad.mit.edu	37	11	75298324	75298324	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:75298324A>G	ENST00000304771.3	-	4	2972	c.2222T>C	c.(2221-2223)aTa>aCa	p.I741T	MAP6_ENST00000526740.1_Missense_Mutation_p.I412T|MAP6_ENST00000526689.1_5'Flank|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	741	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TTCAGGGACTATACGACCTTG	0.512																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	ENST00000304771.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2221-2223)aTa>aCa		microtubule-associated protein 6							161.0	161.0	161.0					11																	75298324		2200	4293	6493	SO:0001583	missense	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75298324A>G	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.2222T>C	11.37:g.75298324A>G	ENSP00000307093:p.Ile741Thr					CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.I412T	p.I741T	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN			4	2972	-	Ovarian(111;0.11)		741			Pro-rich.		A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	ENST00000304771.3	37	c.2222T>C	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	A	3.925	-0.017402	0.07681	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.52057	0.68	4.32	3.08	0.35506	.	0.679336	0.12314	N	0.479900	T	0.24470	0.0593	N	0.17474	0.49	0.09310	N	0.999999	B	0.19073	0.033	B	0.12156	0.007	T	0.17561	-1.0365	10	0.12766	T	0.61	-0.0121	3.2037	0.06658	0.6837:0.0:0.1102:0.2061	.	741	Q96JE9	MAP6_HUMAN	T	741;412;412	ENSP00000307093:I741T	ENSP00000307093:I741T	I	-	2	0	MAP6	74975972	0.000000	0.05858	0.177000	0.23020	0.340000	0.28889	0.229000	0.17833	1.907000	0.55213	0.533000	0.62120	ATA		0.512	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		72	197	0	0	0	1	0	72	197				
KRT12	3859	broad.mit.edu	37	17	39021207	39021207	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:39021207T>C	ENST00000251643.4	-	3	681	c.658A>G	c.(658-660)Aat>Gat	p.N220D	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	220	Coil 1B.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	GCCAGTTCATTCTCATACCTG	0.537																																						ENST00000251643.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(658-660)Aat>Gat		keratin 12							60.0	60.0	60.0					17																	39021207		2203	4300	6503	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39021207T>C		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.658A>G	17.37:g.39021207T>C	ENSP00000251643:p.Asn220Asp						p.N220D	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN			3	681	-		Breast(137;0.000301)	220			Coil 1B.|Rod.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.658A>G	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.348894	0.82132	.	.	ENSG00000187242	ENST00000251643	D	0.88046	-2.33	5.96	5.96	0.96718	Filament (1);	0.132996	0.34555	N	0.003874	D	0.88288	0.6396	L	0.52573	1.65	0.46336	D	0.998997	P	0.47484	0.896	P	0.48952	0.596	D	0.89317	0.3637	10	0.72032	D	0.01	.	16.4484	0.83959	0.0:0.0:0.0:1.0	.	220	Q99456	K1C12_HUMAN	D	220	ENSP00000251643:N220D	ENSP00000251643:N220D	N	-	1	0	KRT12	36274733	0.977000	0.34250	0.964000	0.40570	0.695000	0.40330	1.770000	0.38532	2.285000	0.76669	0.533000	0.62120	AAT		0.537	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		6	94	0	0	0	1	0	6	94				
GTF3C1	2975	broad.mit.edu	37	16	27472687	27472687	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:27472687T>C	ENST00000356183.4	-	37	6329	c.6314A>G	c.(6313-6315)aAg>aGg	p.K2105R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.K2080R|GTF3C1_ENST00000567806.1_5'Flank	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	2105					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTGGATCCACTTGTTCCAGTT	0.662																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(6313-6315)aAg>aGg		general transcription factor IIIC, polypeptide 1, alpha 220kDa							52.0	55.0	54.0					16																	27472687		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27472687T>C	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.6314A>G	16.37:g.27472687T>C	ENSP00000348510:p.Lys2105Arg					GTF3C1_ENST00000561623.1_Missense_Mutation_p.K2080R	p.K2105R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			37	6329	-			2105					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.6314A>G	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.208198	0.79240	.	.	ENSG00000077235	ENST00000356183	T	0.26067	1.76	5.23	4.14	0.48551	.	0.536998	0.15255	N	0.272111	T	0.31857	0.0810	M	0.70595	2.14	0.31715	N	0.639035	P;P	0.51351	0.717;0.944	B;P	0.45276	0.251;0.475	T	0.44877	-0.9299	10	0.62326	D	0.03	-24.796	8.5864	0.33660	0.0:0.088:0.0:0.912	.	2105;2080	Q12789;Q12789-3	TF3C1_HUMAN;.	R	2105	ENSP00000348510:K2105R	ENSP00000348510:K2105R	K	-	2	0	GTF3C1	27380188	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.352000	0.52239	0.850000	0.35239	0.459000	0.35465	AAG		0.662	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		18	75	0	0	0	1	0	18	75				
WDR59	79726	broad.mit.edu	37	16	74985406	74985406	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:74985406G>A	ENST00000262144.6	-	4	406	c.276C>T	c.(274-276)gaC>gaT	p.D92D	WDR59_ENST00000562331.1_5'UTR	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	92										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCCCACTGCCGTCTTTCCACT	0.502																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(274-276)gaC>gaT		WD repeat domain 59							181.0	136.0	151.0					16																	74985406		2198	4299	6497	SO:0001819	synonymous_variant	79726							g.chr16:74985406G>A	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.276C>T	16.37:g.74985406G>A						WDR59_ENST00000562331.1_5'UTR	p.D92D	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			4	406	-			92					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	c.276C>T	CCDS32488.1																																																																																				0.502	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		4	10	0	0	0	1	0	4	10				
KRTAP4-6	81871	broad.mit.edu	37	17	39296500	39296500	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:39296500G>A	ENST00000345847.4	-	1	239	c.240C>T	c.(238-240)tgC>tgT	p.C80C		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	80	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCTAGGGCGGCAGCAGGTGG	0.657																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(238-240)tgC>tgT		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296500G>A	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.240C>T	17.37:g.39296500G>A							p.C80C	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	239	-			76			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.240C>T	CCDS54125.1																																																																																				0.657	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			9	130	0	0	0	1	0	9	130				
CATSPERG	57828	broad.mit.edu	37	19	38853038	38853038	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:38853038G>A	ENST00000409235.3	+	19	2295	c.2180G>A	c.(2179-2181)aGc>aAc	p.S727N	AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000410018.1_Missense_Mutation_p.S687N|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	727					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TTCTTGGCGAGCAATTGGCGA	0.632																																						ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(2179-2181)aGc>aAc		catsper channel auxiliary subunit gamma							62.0	68.0	66.0					19																	38853038		2202	4299	6501	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38853038G>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2180G>A	19.37:g.38853038G>A	ENSP00000386962:p.Ser727Asn					AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.S687N	p.S727N	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			19	2295	+			727					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.2180G>A	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035310	0.54896	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.41758	0.99;0.99	4.61	3.57	0.40892	.	0.189498	0.37261	N	0.002177	T	0.32675	0.0837	L	0.45137	1.4	0.80722	D	1	B;B	0.23540	0.087;0.021	B;B	0.25759	0.063;0.027	T	0.08310	-1.0728	10	0.30078	T	0.28	-25.08	8.7238	0.34456	0.1075:0.0:0.8925:0.0	.	727;687	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	N	687;727;727	ENSP00000387057:S687N;ENSP00000386962:S727N	ENSP00000386962:S727N	S	+	2	0	CATSPERG	43544878	1.000000	0.71417	0.906000	0.35671	0.286000	0.27126	4.345000	0.59360	0.931000	0.37242	0.462000	0.41574	AGC		0.632	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		6	194	0	0	0	1	0	6	194				
DNAAF2	55172	broad.mit.edu	37	14	50092624	50092624	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:50092624A>G	ENST00000298292.8	-	3	2230	c.2150T>C	c.(2149-2151)cTa>cCa	p.L717P	RP11-649E7.5_ENST00000555043.1_RNA|DNAAF2_ENST00000406043.3_Missense_Mutation_p.L669P	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	717					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						ATCTATTTGTAGTGCTTTAAC	0.333																																						ENST00000298292.8																			0				kidney(1)|lung(4)	5						c.(2149-2151)cTa>cCa		dynein, axonemal, assembly factor 2							84.0	84.0	84.0					14																	50092624		2203	4298	6501	SO:0001583	missense	55172				axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50092624A>G	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.2150T>C	14.37:g.50092624A>G	ENSP00000298292:p.Leu717Pro					DNAAF2_ENST00000406043.3_Missense_Mutation_p.L669P	p.L717P	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN			3	2230	-			717					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	ENST00000298292.8	37	c.2150T>C	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	A	11.27	1.589328	0.28357	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.20200	2.1;2.09	5.51	-1.3	0.09259	.	1.277870	0.05810	N	0.613910	T	0.19725	0.0474	L	0.56769	1.78	0.29597	N	0.847993	B;B	0.13594	0.008;0.005	B;B	0.16289	0.015;0.006	T	0.35895	-0.9770	10	0.45353	T	0.12	.	4.1932	0.10431	0.4871:0.0:0.356:0.157	.	669;717	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	P	717;669	ENSP00000298292:L717P;ENSP00000384862:L669P	ENSP00000298292:L717P	L	-	2	0	DNAAF2	49162374	0.006000	0.16342	0.006000	0.13384	0.470000	0.32858	0.095000	0.15127	-0.140000	0.11394	0.372000	0.22366	CTA		0.333	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			13	17	0	0	0	1	0	13	17				
DLGAP4	22839	broad.mit.edu	37	20	35128968	35128968	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:35128968C>T	ENST00000373907.2	+	9	2665	c.2466C>T	c.(2464-2466)tgC>tgT	p.C822C	DLGAP4_ENST00000339266.5_Silent_p.C822C|DLGAP4_ENST00000373913.3_Silent_p.C819C|DLGAP4_ENST00000401952.2_Silent_p.C819C|DLGAP4_ENST00000340491.4_Silent_p.C283C|DLGAP4_ENST00000475894.1_3'UTR			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	822					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AAGGCTGGTGCTGCCAGATGG	0.602																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2455-2457)tgC>tgT		discs, large (Drosophila) homolog-associated protein 4							43.0	44.0	44.0					20																	35128968		2188	4277	6465	SO:0001819	synonymous_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35128968C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2466C>T	20.37:g.35128968C>T						DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Silent_p.C283C|DLGAP4_ENST00000339266.5_Silent_p.C822C|DLGAP4_ENST00000401952.2_Silent_p.C819C|DLGAP4_ENST00000373907.2_Silent_p.C822C	p.C819C			Q9Y2H0	DLGP4_HUMAN			10	2937	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	822					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37	c.2457C>T																																																																																					0.602	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		29	95	0	0	0	1	0	29	95				
DTX1	1840	broad.mit.edu	37	12	113534672	113534672	+	Silent	SNP	C	C	T	rs142267522	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:113534672C>T	ENST00000257600.3	+	9	2294	c.1791C>T	c.(1789-1791)gaC>gaT	p.D597D	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	597					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D597D(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTACCCGGACGCTAGCTACC	0.637													C|||	4	0.000798722	0.003	0.0	5008	,	,		20989	0.0		0.0	False		,,,				2504	0.0					ENST00000257600.3																			1	Substitution - coding silent(1)	p.D597D(1)	endometrium(1)	central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1789-1791)gaC>gaT		deltex homolog 1 (Drosophila)		C		11,4395	17.9+/-39.9	0,11,2192	74.0	53.0	60.0		1791	-2.1	0.8	12	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DTX1	NM_004416.2		0,12,6491	TT,TC,CC		0.0116,0.2497,0.0923		597/621	113534672	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113534672C>T	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1791C>T	12.37:g.113534672C>T						DTX1_ENST00000547974.1_3'UTR	p.D597D	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			9	2294	+			597					O60630|Q9BS04	Silent	SNP	ENST00000257600.3	37	c.1791C>T	CCDS9164.1																																																																																				0.637	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			16	59	0	0	0	1	0	16	59				
NPTN	27020	broad.mit.edu	37	15	73889513	73889513	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:73889513C>T	ENST00000345330.4	-	2	486	c.289G>A	c.(289-291)Ggc>Agc	p.G97S	NPTN_ENST00000562924.1_Intron|NPTN_ENST00000542234.1_Intron|NPTN_ENST00000564551.1_Intron|NPTN_ENST00000545878.1_Missense_Mutation_p.G97S|NPTN_ENST00000287226.8_Missense_Mutation_p.G97S|NPTN_ENST00000563691.1_Missense_Mutation_p.G97S|NPTN_ENST00000351217.6_Intron	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	97	Ig-like 1.				homophilic cell adhesion (GO:0007156)|long-term synaptic potentiation (GO:0060291)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)	cell adhesion molecule binding (GO:0050839)|type 1 fibroblast growth factor receptor binding (GO:0005105)	p.G97S(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						ACACTCACGCCGTTTGACCCG	0.582																																					Pancreas(101;1519 1568 9459 19537 41286)|Esophageal Squamous(143;1278 1787 35254 36835 44843)	ENST00000345330.4																			1	Substitution - Missense(1)	p.G97S(1)	endometrium(1)	breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						c.(289-291)Ggc>Agc		neuroplastin							138.0	99.0	112.0					15																	73889513		2198	4297	6495	SO:0001583	missense	27020				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding	g.chr15:73889513C>T	AF035287	CCDS10249.1, CCDS10250.1, CCDS58379.1, CCDS58380.1	15q24.1	2013-01-29	2006-02-22	2006-02-22	ENSG00000156642	ENSG00000156642		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17867	protein-coding gene	gene with protein product		612820	"""stromal cell derived factor receptor 1"""	SDFR1		8619474, 9110174	Standard	NM_012428		Approved	SDR1, GP55, GP65, np65, np55	uc002avs.3	Q9Y639	OTTHUMG00000137586	ENST00000345330.4:c.289G>A	15.37:g.73889513C>T	ENSP00000290401:p.Gly97Ser					NPTN_ENST00000562924.1_Intron|NPTN_ENST00000287226.8_Missense_Mutation_p.G97S|NPTN_ENST00000545878.1_Missense_Mutation_p.G97S|NPTN_ENST00000564551.1_Intron|NPTN_ENST00000542234.1_Intron|NPTN_ENST00000563691.1_Missense_Mutation_p.G97S|NPTN_ENST00000351217.6_Intron	p.G97S	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN			2	486	-			97			Ig-like 1.		B2RAL7|B7Z4D3|B7ZLL2|Q17R52|Q59EJ9|Q6NVX7|Q9Y640	Missense_Mutation	SNP	ENST00000345330.4	37	c.289G>A	CCDS10249.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.691814	0.68271	.	.	ENSG00000156642	ENST00000345330;ENST00000545878;ENST00000287226	T;T;T	0.03124	4.04;4.04;4.04	5.61	5.61	0.85477	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.176177	0.49305	D	0.000156	T	0.02688	0.0081	N	0.11255	0.115	0.58432	D	0.999999	P;P	0.52692	0.944;0.955	B;B	0.39379	0.197;0.298	T	0.64114	-0.6483	10	0.10636	T	0.68	.	20.0018	0.97417	0.0:1.0:0.0:0.0	.	97;97	Q9Y639-5;Q9Y639	.;NPTN_HUMAN	S	97	ENSP00000290401:G97S;ENSP00000444548:G97S;ENSP00000287226:G97S	ENSP00000287226:G97S	G	-	1	0	NPTN	71676566	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.559000	0.60796	2.793000	0.96121	0.655000	0.94253	GGC		0.582	NPTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268980.1	NM_012428		17	82	0	0	0	1	0	17	82				
ZNF324	25799	broad.mit.edu	37	19	58980561	58980561	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:58980561T>C	ENST00000536459.2	+	2	718	c.9T>C	c.(7-9)ttT>ttC	p.F3F	ZNF324_ENST00000196482.3_Silent_p.F3F|ZNF324_ENST00000535298.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	3	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGATGGCCTTTGAGGATGTGG	0.562																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(7-9)ttT>ttC		zinc finger protein 324							90.0	77.0	81.0					19																	58980561		2203	4300	6503	SO:0001819	synonymous_variant	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58980561T>C	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.9T>C	19.37:g.58980561T>C						ZNF324_ENST00000196482.3_Silent_p.F3F	p.F3F			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	2	718	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	3			KRAB.		B3KRX1	Silent	SNP	ENST00000536459.2	37	c.9T>C	CCDS12981.1																																																																																				0.562	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		4	106	0	0	0	1	0	4	106				
PIK3R6	146850	broad.mit.edu	37	17	8722450	8722450	+	Missense_Mutation	SNP	T	T	C	rs181404404		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:8722450T>C	ENST00000311434.9	-	19	2182	c.1943A>G	c.(1942-1944)aAc>aGc	p.N648S	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	649					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CTCTGTCACGTTGACATTCAG	0.532													T|||	1	0.000199681	0.0	0.0	5008	,	,		19964	0.001		0.0	False		,,,				2504	0.0					ENST00000311434.9																			0											c.(1942-1944)aAc>aGc		phosphoinositide-3-kinase, regulatory subunit 6		T	SER/ASN	0,4056		0,0,2028	54.0	53.0	53.0		1945	1.1	0.2	17		53	1,8361		0,1,4180	no	missense	PIK3R6	NM_001010855.2	46	0,1,6208	CC,CT,TT		0.012,0.0,0.0081	benign	649/755	8722450	1,12417	2028	4181	6209	SO:0001583	missense	146850				platelet activation	cytosol		g.chr17:8722450T>C	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1943A>G	17.37:g.8722450T>C	ENSP00000475670:p.Asn648Ser					PIK3R6_ENST00000434064.2_5'UTR	p.N648S	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			19	2182	-			649					Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37	c.1943A>G																																																																																					0.532	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		5	13	0	0	0	1	0	5	13				
CYP2B7P	1556	broad.mit.edu	37	19	41450647	41450647	+	RNA	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41450647C>T	ENST00000597260.1	+	0	0				CYP2B7P1_ENST00000599198.1_RNA																							CTGAGCACTGCTCTCCGTGAC	0.478																																						ENST00000599198.1																			0				NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12																																														1556							g.chr19:41450647C>T																													19.37:g.41450647C>T								NR_001278.1						0	1238	+									RNA	SNP	ENST00000597260.1	37																																																																																						0.478	AC092071.1-001	KNOWN	basic	sense_intronic	sense_intronic	OTTHUMT00000463563.1			8	168	0	0	0	1	0	8	168				
PRPF40B	25766	broad.mit.edu	37	12	50037668	50037668	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:50037668C>A	ENST00000380281.1	+	24	2468	c.2404C>A	c.(2404-2406)Cct>Act	p.P802T	PRPF40B_ENST00000261897.1_Missense_Mutation_p.P789T|PRPF40B_ENST00000548825.2_Missense_Mutation_p.P823T|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	802					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TGAGACAGACCCTGAGGAGAA	0.527																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(2365-2367)Cct>Act		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							54.0	54.0	54.0					12																	50037668		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50037668C>A	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2404C>A	12.37:g.50037668C>A	ENSP00000369634:p.Pro802Thr					FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Missense_Mutation_p.P823T|PRPF40B_ENST00000380281.1_Missense_Mutation_p.P802T	p.P789T			Q6NWY9	PR40B_HUMAN			24	2916	+			802					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.2365C>A		.	.	.	.	.	.	.	.	.	.	C	22.1	4.239420	0.79800	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.21543	2.0;2.01	4.58	4.58	0.56647	.	0.250727	0.26411	N	0.024535	T	0.12178	0.0296	N	0.19112	0.55	0.80722	D	1	B;B	0.33238	0.281;0.403	B;B	0.30029	0.051;0.11	T	0.03662	-1.1015	10	0.02654	T	1	-1.181	16.7471	0.85475	0.0:1.0:0.0:0.0	.	802;789	Q6NWY9;Q6NWY9-2	PR40B_HUMAN;.	T	789;802	ENSP00000261897:P789T;ENSP00000369634:P802T	ENSP00000261897:P789T	P	+	1	0	PRPF40B	48323935	0.915000	0.31059	0.975000	0.42487	0.948000	0.59901	2.598000	0.46223	2.578000	0.87016	0.555000	0.69702	CCT		0.527	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		20	96	1	0	8.28177e-16	1	8.68412e-16	20	96				
ABHD16B	140701	broad.mit.edu	37	20	62493327	62493327	+	Missense_Mutation	SNP	T	T	A	rs545295477	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:62493327T>A	ENST00000369916.3	+	1	762	c.434T>A	c.(433-435)cTg>cAg	p.L145Q	C20ORF135_ENST00000601296.1_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	145							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						CGCGCCAAGCTGGTGGCCTGT	0.701																																						ENST00000369916.3																			0				endometrium(2)|kidney(1)|lung(3)	6						c.(433-435)cTg>cAg		abhydrolase domain containing 16B							14.0	17.0	16.0					20																	62493327		2188	4274	6462	SO:0001583	missense	140701						hydrolase activity	g.chr20:62493327T>A		CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"""Abhydrolase domain containing"""	16128	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 135"""	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.434T>A	20.37:g.62493327T>A	ENSP00000358932:p.Leu145Gln						p.L145Q	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN			1	762	+			145						Missense_Mutation	SNP	ENST00000369916.3	37	c.434T>A	CCDS13539.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.931134	0.73327	.	.	ENSG00000183260	ENST00000369916	T	0.61980	0.06	4.72	4.72	0.59763	.	0.000000	0.64402	U	0.000011	T	0.78007	0.4216	M	0.78456	2.415	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	T	0.80991	-0.1135	10	0.87932	D	0	-11.9394	12.1465	0.54026	0.0:0.0:0.0:1.0	.	145	Q9H3Z7	ABHGB_HUMAN	Q	145	ENSP00000358932:L145Q	ENSP00000358932:L145Q	L	+	2	0	ABHD16B	61963771	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	5.302000	0.65733	1.759000	0.51996	0.482000	0.46254	CTG		0.701	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1			16	61	0	0	0	1	0	16	61				
CHIT1	1118	broad.mit.edu	37	1	203186872	203186872	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:203186872T>C	ENST00000367229.1	-	10	1185	c.1151A>G	c.(1150-1152)gAa>gGa	p.E384G	CHIT1_ENST00000255427.3_Missense_Mutation_p.E365G|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.E375G	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	384					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTTACTCAGTTCCTGCCGTAG	0.592																																						ENST00000367229.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						c.(1150-1152)gAa>gGa		chitinase 1 (chitotriosidase)							56.0	55.0	55.0					1																	203186872		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203186872T>C	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1151A>G	1.37:g.203186872T>C	ENSP00000356198:p.Glu384Gly					CHIT1_ENST00000255427.3_Missense_Mutation_p.E365G|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.E375G	p.E384G	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN			10	1185	-			384					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.1151A>G	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	T	4.067	0.010333	0.07912	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.35789	1.29;1.29;1.29	5.14	5.14	0.70334	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.46442	D	0.000296	T	0.34164	0.0888	L	0.39898	1.24	0.26146	N	0.980213	P;B;P	0.45902	0.868;0.006;0.516	P;B;B	0.46758	0.526;0.004;0.086	T	0.15521	-1.0434	10	0.22706	T	0.39	-6.5749	11.3817	0.49761	0.0:0.0:0.0:1.0	.	355;375;384	Q13231-3;G5EA51;Q13231	.;.;CHIT1_HUMAN	G	384;365;375	ENSP00000356198:E384G;ENSP00000255427:E365G;ENSP00000438078:E375G	ENSP00000255427:E365G	E	-	2	0	CHIT1	201453495	0.000000	0.05858	0.539000	0.28077	0.078000	0.17371	0.512000	0.22755	1.942000	0.56320	0.533000	0.62120	GAA		0.592	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		5	51	0	0	0	1	0	5	51				
ZNF423	23090	broad.mit.edu	37	16	49670391	49670391	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:49670391C>T	ENST00000561648.1	-	4	2725	c.2672G>A	c.(2671-2673)tGt>tAt	p.C891Y	ZNF423_ENST00000567169.1_Missense_Mutation_p.C774Y|ZNF423_ENST00000262383.2_Missense_Mutation_p.C891Y|ZNF423_ENST00000535559.1_Missense_Mutation_p.C774Y|ZNF423_ENST00000563137.2_Missense_Mutation_p.C831Y|ZNF423_ENST00000562871.1_Missense_Mutation_p.C831Y|ZNF423_ENST00000562520.1_Missense_Mutation_p.C831Y	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	891					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGCCGCCCCACAGATGTCACA	0.622																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(2671-2673)tGt>tAt		zinc finger protein 423							69.0	65.0	67.0					16																	49670391		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49670391C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2672G>A	16.37:g.49670391C>T	ENSP00000455426:p.Cys891Tyr					ZNF423_ENST00000563137.2_Missense_Mutation_p.C831Y|ZNF423_ENST00000567169.1_Missense_Mutation_p.C774Y|ZNF423_ENST00000562520.1_Missense_Mutation_p.C831Y|ZNF423_ENST00000535559.1_Missense_Mutation_p.C774Y|ZNF423_ENST00000262383.2_Missense_Mutation_p.C891Y|ZNF423_ENST00000562871.1_Missense_Mutation_p.C831Y	p.C891Y	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	2725	-		all_cancers(37;0.0155)	891					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.2672G>A	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968941	0.74131	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.24908	1.83;2.13	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.61022	0.2314	M	0.91196	3.185	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.71699	-0.4514	9	.	.	.	-18.897	17.8857	0.88854	0.0:1.0:0.0:0.0	.	891	Q2M1K9	ZN423_HUMAN	Y	891;774	ENSP00000262383:C891Y;ENSP00000442321:C774Y	.	C	-	2	0	ZNF423	48227892	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.811000	0.86092	2.234000	0.73211	0.561000	0.74099	TGT		0.622	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		30	99	0	0	0	1	0	30	99				
ARHGAP32	9743	broad.mit.edu	37	11	128848689	128848689	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:128848689C>G	ENST00000310343.9	-	18	2055	c.2056G>C	c.(2056-2058)Gag>Cag	p.E686Q	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E337Q|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.E612Q|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E337Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	686					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GCTTTCATCTCTGAAGGCTCA	0.478																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(2056-2058)Gag>Cag		Rho GTPase activating protein 32							89.0	83.0	85.0					11																	128848689		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128848689C>G	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2056G>C	11.37:g.128848689C>G	ENSP00000310561:p.Glu686Gln					ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E337Q|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.E612Q|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E337Q	p.E686Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			18	2055	-			686					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.2056G>C	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156420	0.94686	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.61	5.61	0.85477	.	0.104025	0.64402	D	0.000005	T	0.45074	0.1324	L	0.56769	1.78	0.58432	D	0.999998	D;D	0.76494	0.987;0.999	P;D	0.71184	0.497;0.972	T	0.18116	-1.0347	10	0.51188	T	0.08	.	19.6278	0.95687	0.0:1.0:0.0:0.0	.	620;686	Q86T64;A7KAX9	.;RHG32_HUMAN	Q	686;337;612;620;337	ENSP00000310561:E686Q;ENSP00000376425:E337Q;ENSP00000432468:E612Q;ENSP00000432862:E337Q	ENSP00000310561:E686Q	E	-	1	0	ARHGAP32	128353899	1.000000	0.71417	0.958000	0.39756	0.987000	0.75469	7.487000	0.81328	2.640000	0.89533	0.591000	0.81541	GAG		0.478	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		18	44	0	0	0	1	0	18	44				
RPS6KA1	6195	broad.mit.edu	37	1	26878180	26878180	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:26878180G>A	ENST00000374168.2	+	6	588	c.434G>A	c.(433-435)cGt>cAt	p.R145H	MIR1976_ENST00000459548.1_RNA|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R53H|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R154H|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R145H|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R53H|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R129H	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	145	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GACTTCCTGCGTGGTGGGGAC	0.592																																						ENST00000374168.2																			0				lung(1)	1						c.(433-435)cGt>cAt		ribosomal protein S6 kinase, 90kDa, polypeptide 1							120.0	105.0	110.0					1																	26878180		2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26878180G>A	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.434G>A	1.37:g.26878180G>A	ENSP00000363283:p.Arg145His					RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R145H|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R129H|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R154H|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R53H|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R53H	p.R145H	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	6	588	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	145			Protein kinase 1.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.434G>A	CCDS284.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956042	0.92726	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000529454;ENST00000374162;ENST00000530003;ENST00000531382	T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84	4.38	4.38	0.52667	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	N	0.20357	0.565	0.80722	D	1	D;D;D	0.89917	1.0;0.984;0.975	D;P;P	0.70935	0.971;0.513;0.486	T	0.39702	-0.9601	10	0.87932	D	0	.	17.1159	0.86688	0.0:0.0:1.0:0.0	.	129;154;145	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	H	145;145;53;53;53;129;154	ENSP00000363283:R145H;ENSP00000363281:R145H;ENSP00000431651:R53H;ENSP00000433039:R53H;ENSP00000363277:R53H;ENSP00000432281:R129H;ENSP00000435412:R154H	ENSP00000363277:R53H	R	+	2	0	RPS6KA1	26750767	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.267000	0.75376	0.563000	0.77884	CGT		0.592	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		24	71	0	0	0	1	0	24	71				
TNKS1BP1	85456	broad.mit.edu	37	11	57076249	57076249	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:57076249A>G	ENST00000532437.1	-	5	4247	c.3936T>C	c.(3934-3936)ggT>ggC	p.G1312G	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Silent_p.G1312G			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1312	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCAGATTGTTACCCCAGTCCA	0.607																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3934-3936)ggT>ggC		tankyrase 1 binding protein 1, 182kDa							120.0	130.0	127.0					11																	57076249		2201	4296	6497	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076249A>G	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3936T>C	11.37:g.57076249A>G						TNKS1BP1_ENST00000358252.3_Silent_p.G1312G	p.G1312G			Q9C0C2	TB182_HUMAN			5	4247	-		all_epithelial(135;0.21)	1312			Acidic.|Gly-rich.		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.3936T>C	CCDS7951.1																																																																																				0.607	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		25	317	0	0	0	1	0	25	317				
TRIM27	5987	broad.mit.edu	37	6	28887838	28887838	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:28887838A>T	ENST00000377199.3	-	3	1054	c.698T>A	c.(697-699)aTc>aAc	p.I233N	TRIM27_ENST00000498117.1_5'UTR|TRIM27_ENST00000377194.3_Missense_Mutation_p.I233N	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	233					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TAGCTGAGCGATCAGGCTGCT	0.567			T	RET	papillary thyroid																																	ENST00000377199.3				Dom	yes		6	6p22	5987	T	tripartite motif-containing 27			E	RET		papillary thyroid		0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.(697-699)aTc>aAc		tripartite motif containing 27							151.0	134.0	139.0					6																	28887838		2203	4300	6503	SO:0001583	missense	5987				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	g.chr6:28887838A>T	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.698T>A	6.37:g.28887838A>T	ENSP00000366404:p.Ile233Asn					TRIM27_ENST00000377194.3_Missense_Mutation_p.I233N|TRIM27_ENST00000498117.1_5'UTR	p.I233N	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN			3	1054	-			233					A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	ENST00000377199.3	37	c.698T>A	CCDS4654.1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.802490	0.70682	.	.	ENSG00000204713	ENST00000377199;ENST00000377194	T;T	0.66638	0.3;-0.22	4.7	4.7	0.59300	.	0.000000	0.50627	D	0.000111	T	0.75606	0.3872	M	0.78916	2.43	0.36750	D	0.882716	D;D;D	0.89917	1.0;0.997;0.998	D;D;P	0.91635	0.999;0.918;0.896	T	0.80509	-0.1351	10	0.87932	D	0	.	11.1248	0.48310	1.0:0.0:0.0:0.0	.	300;233;233	Q59EC6;P14373-2;P14373	.;.;TRI27_HUMAN	N	233	ENSP00000366404:I233N;ENSP00000366399:I233N	ENSP00000366399:I233N	I	-	2	0	TRIM27	28995817	0.685000	0.27652	0.998000	0.56505	0.959000	0.62525	5.032000	0.64140	2.046000	0.60703	0.533000	0.62120	ATC		0.567	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2	NM_030950		44	128	0	0	0	1	0	44	128				
MICAL2	9645	broad.mit.edu	37	11	12241954	12241954	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:12241954G>A	ENST00000256194.4	+	9	1443	c.1155G>A	c.(1153-1155)gaG>gaA	p.E385E	MICAL2_ENST00000537344.1_Silent_p.E385E|MICAL2_ENST00000379612.3_Silent_p.E385E|MICAL2_ENST00000342902.5_Silent_p.E385E|MICAL2_ENST00000527546.1_Silent_p.E385E	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	385	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGGTGCGGGAGCGGCAGGCGC	0.587																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(1153-1155)gaG>gaA		microtubule associated monooxygenase, calponin and LIM domain containing 2							76.0	69.0	72.0					11																	12241954		2201	4294	6495	SO:0001819	synonymous_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12241954G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1155G>A	11.37:g.12241954G>A						MICAL2_ENST00000527546.1_Silent_p.E385E|MICAL2_ENST00000342902.5_Silent_p.E385E|MICAL2_ENST00000537344.1_Silent_p.E385E|MICAL2_ENST00000379612.3_Silent_p.E385E	p.E385E	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	9	1443	+			385					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	c.1155G>A	CCDS7809.1																																																																																				0.587	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		31	79	0	0	0	1	0	31	79				
CLPTM1L	81037	broad.mit.edu	37	5	1330449	1330449	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:1330449G>A	ENST00000320895.5	-	9	1283	c.1026C>T	c.(1024-1026)gaC>gaT	p.D342D	CLPTM1L_ENST00000507807.1_Intron|CLPTM1L_ENST00000320927.6_Intron	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	342					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		TCGTCTGCTCGTCCAGCAGGA	0.647																																						ENST00000320895.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1024-1026)gaC>gaT		CLPTM1-like							85.0	79.0	81.0					5																	1330449		2203	4299	6502	SO:0001819	synonymous_variant	81037				apoptosis	integral to membrane		g.chr5:1330449G>A	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.1026C>T	5.37:g.1330449G>A						CLPTM1L_ENST00000507807.1_Intron|CLPTM1L_ENST00000320927.6_Intron	p.D342D	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	9	1283	-	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		342					D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Silent	SNP	ENST00000320895.5	37	c.1026C>T	CCDS3862.1																																																																																				0.647	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782		32	82	0	0	0	1	0	32	82				
RSF1	51773	broad.mit.edu	37	11	77451921	77451921	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:77451921C>T	ENST00000308488.6	-	4	735	c.433G>A	c.(433-435)Gat>Aat	p.D145N	RSF1-IT1_ENST00000528233.1_RNA|RSF1_ENST00000360355.2_Missense_Mutation_p.D114N			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	145					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GTATCGGCATCCTCCTCATTA	0.378																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(433-435)Gat>Aat		remodeling and spacing factor 1							121.0	100.0	107.0					11																	77451921		2200	4292	6492	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77451921C>T	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.433G>A	11.37:g.77451921C>T	ENSP00000311513:p.Asp145Asn					RSF1_ENST00000360355.2_Missense_Mutation_p.D114N	p.D145N			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		4	735	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		145					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.433G>A	CCDS8253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.88|19.88	3.908526|3.908526	0.72868|0.72868	.|.	.|.	ENSG00000048649|ENSG00000048649	ENST00000308488;ENST00000360355;ENST00000528095|ENST00000440064	D;D;T|.	0.86562|.	-2.14;-2.09;1.3|.	5.65|5.65	4.73|4.73	0.59995|0.59995	.|.	0.000000|.	0.56097|.	D|.	0.000033|.	T|T	0.56863|0.56863	0.2014|0.2014	L|L	0.38838|0.38838	1.175|1.175	0.58432|0.58432	D|D	0.99999|0.99999	D|.	0.76494|.	0.999|.	D|.	0.64144|.	0.922|.	T|T	0.51379|0.51379	-0.8713|-0.8713	10|5	0.62326|.	D|.	0.03|.	-19.8262|-19.8262	13.6877|13.6877	0.62526|0.62526	0.0:0.9253:0.0:0.0747|0.0:0.9253:0.0:0.0747	.|.	145|.	Q96T23|.	RSF1_HUMAN|.	N|E	145;114;144|111	ENSP00000311513:D145N;ENSP00000353511:D114N;ENSP00000436408:D144N|.	ENSP00000311513:D145N|.	D|G	-|-	1|2	0|0	RSF1|RSF1	77129569|77129569	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	5.980000|5.980000	0.70516|0.70516	2.667000|2.667000	0.90743|0.90743	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.378	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		13	47	0	0	0	1	0	13	47				
TTN	7273	broad.mit.edu	37	2	179498221	179498221	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179498221T>C	ENST00000591111.1	-	182	38166	c.37942A>G	c.(37942-37944)Aaa>Gaa	p.K12648E	TTN_ENST00000342992.6_Missense_Mutation_p.K11721E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K14289E|TTN_ENST00000359218.5_Missense_Mutation_p.K5349E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K5416E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K5224E|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12648	Ig-like 84.				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)			TCCGCCTTTTTGATTTTTAAG	0.433																																						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.(42865-42867)Aaa>Gaa		titin							107.0	98.0	101.0					2																	179498221		1873	4109	5982	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179498221T>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.37942A>G	2.37:g.179498221T>C	ENSP00000465570:p.Lys12648Glu					TTN_ENST00000460472.2_Missense_Mutation_p.K5224E|TTN_ENST00000342992.6_Missense_Mutation_p.K11721E|TTN_ENST00000591111.1_Missense_Mutation_p.K12648E|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K5349E|TTN_ENST00000342175.6_Missense_Mutation_p.K5416E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.K14289E	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)		232	43089	-			12648			Fibronectin type-III 3.		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.42865A>G		.	.	.	.	.	.	.	.	.	.	T	15.00	2.703174	0.48412	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78233	0.4251	L	0.58510	1.815	0.53005	D	0.999961	D;D;D;D	0.61080	0.978;0.978;0.978;0.989	P;P;P;P	0.62298	0.78;0.78;0.78;0.9	T	0.79918	-0.1600	9	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	5224;5349;5416;12648	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	11721;5224;5416;5349;5224	ENSP00000343764:K11721E;ENSP00000434586:K5224E;ENSP00000340554:K5416E;ENSP00000352154:K5349E	ENSP00000340554:K5416E	K	-	1	0	TTN	179206466	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.991000	0.88244	2.371000	0.80710	0.533000	0.62120	AAA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	56	0	0	0	1	0	22	56				
PCED1B	91523	broad.mit.edu	37	12	47629745	47629745	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:47629745G>A	ENST00000546455.1	+	4	1630	c.899G>A	c.(898-900)cGc>cAc	p.R300H	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.R300H			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	300	Pro-rich.						hydrolase activity (GO:0016787)										cccacataccgccccctgctt	0.637																																						ENST00000546455.1																			0											c.(898-900)cGc>cAc		PC-esterase domain containing 1B							29.0	32.0	31.0					12																	47629745		2203	4300	6503	SO:0001583	missense	91523							g.chr12:47629745G>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.899G>A	12.37:g.47629745G>A	ENSP00000446688:p.Arg300His					PCED1B_ENST00000432328.1_Missense_Mutation_p.R300H	p.R300H							4	1630	+								Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.899G>A	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	5.634	0.301596	0.10678	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000548348;ENST00000330951	T;T	0.34275	1.37;1.37	4.38	-5.65	0.02459	.	3.563670	0.01392	N	0.013261	T	0.16471	0.0396	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09596	-1.0667	10	0.34782	T	0.22	1.759	3.4412	0.07463	0.3344:0.4225:0.1507:0.0924	.	300	Q96HM7	F113B_HUMAN	H	300;300;180;180	ENSP00000446688:R300H;ENSP00000396040:R300H	ENSP00000328560:R180H	R	+	2	0	FAM113B	45916012	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.817000	0.01719	-1.299000	0.02344	-0.818000	0.03119	CGC		0.637	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		16	77	0	0	0	1	0	16	77				
SERPINB8	5271	broad.mit.edu	37	18	61654293	61654293	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:61654293G>A	ENST00000397985.2	+	7	1162	c.906G>A	c.(904-906)atG>atA	p.M302I	SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.M120I|SERPINB8_ENST00000353706.2_Missense_Mutation_p.M302I	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	302					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TTTCTGGAATGTCAACTGAGA	0.502																																						ENST00000397985.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17						c.(904-906)atG>atA		serpin peptidase inhibitor, clade B (ovalbumin), member 8							118.0	100.0	106.0					18																	61654293		2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61654293G>A	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.906G>A	18.37:g.61654293G>A	ENSP00000381072:p.Met302Ile					SERPINB8_ENST00000353706.2_Missense_Mutation_p.M302I|SERPINB8_ENST00000542677.1_Missense_Mutation_p.M120I|SERPINB8_ENST00000493661.1_Intron	p.M302I	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN			7	1162	+		Esophageal squamous(42;0.129)	302					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.906G>A	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215424	0.58452	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677	D;D;D	0.83419	-1.72;-1.72;-1.72	5.65	5.65	0.86999	Serpin domain (3);	0.101206	0.85682	D	0.000000	T	0.75598	0.3871	N	0.20445	0.575	0.53688	D	0.999971	B	0.22541	0.071	B	0.31442	0.13	T	0.71227	-0.4655	10	0.48119	T	0.1	.	15.083	0.72130	0.0:0.152:0.848:0.0	.	302	P50452	SPB8_HUMAN	I	302;302;120	ENSP00000381072:M302I;ENSP00000331368:M302I;ENSP00000438328:M120I	ENSP00000331368:M302I	M	+	3	0	SERPINB8	59805273	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.667000	0.46808	2.941000	0.99782	0.655000	0.94253	ATG		0.502	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		16	59	0	0	0	1	0	16	59				
SZT2	23334	broad.mit.edu	37	1	43900072	43900072	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:43900072G>A	ENST00000562955.1	+	40	5649	c.5649G>A	c.(5647-5649)gaG>gaA	p.E1883E	SZT2_ENST00000372442.1_Silent_p.E1041E	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1940					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						TGATTCGGGAGGATGGGGGGC	0.557																																						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.(5647-5649)gaG>gaA		seizure threshold 2 homolog (mouse)							22.0	23.0	23.0					1																	43900072		2203	4299	6502	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43900072G>A	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.5649G>A	1.37:g.43900072G>A						SZT2_ENST00000372442.1_Silent_p.E1041E	p.E1883E	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			40	5649	+			1940					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.5649G>A	CCDS30694.2																																																																																				0.557	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		4	9	0	0	0	1	0	4	9				
WARS2	10352	broad.mit.edu	37	1	119575854	119575854	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:119575854C>T	ENST00000235521.4	-	6	789	c.763G>A	c.(763-765)Gtg>Atg	p.V255M	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.V161M	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	255					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	AAGTCTGTCACAGCCTTGCGG	0.582																																						ENST00000235521.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15						c.(763-765)Gtg>Atg		tryptophanyl tRNA synthetase 2, mitochondrial	L-Tryptophan(DB00150)						118.0	107.0	111.0					1																	119575854		2203	4300	6503	SO:0001583	missense	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119575854C>T	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.763G>A	1.37:g.119575854C>T	ENSP00000235521:p.Val255Met					WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.V161M	p.V255M	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	6	789	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	255					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	c.763G>A	CCDS900.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572760	0.65765	.	.	ENSG00000116874	ENST00000235521;ENST00000537870	T;T	0.32023	1.47;1.47	5.87	4.01	0.46588	.	0.165841	0.52532	N	0.000062	T	0.31040	0.0784	M	0.79343	2.45	0.53005	D	0.999969	B;B	0.28667	0.136;0.219	B;B	0.42798	0.257;0.398	T	0.13575	-1.0504	10	0.45353	T	0.12	-12.0527	12.3655	0.55226	0.0:0.8644:0.0:0.1356	.	198;255	B7Z6G7;Q9UGM6	.;SYWM_HUMAN	M	255;161	ENSP00000235521:V255M;ENSP00000438807:V161M	ENSP00000235521:V255M	V	-	1	0	WARS2	119377377	0.972000	0.33761	0.960000	0.40013	0.964000	0.63967	2.382000	0.44345	0.833000	0.34828	0.655000	0.94253	GTG		0.582	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		13	113	0	0	0	1	0	13	113				
SYNE1	23345	broad.mit.edu	37	6	152722363	152722363	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:152722363A>C	ENST00000367255.5	-	47	7540	c.6939T>G	c.(6937-6939)atT>atG	p.I2313M	RP3-398G3.5_ENST00000458194.1_RNA|SYNE1_ENST00000265368.4_Missense_Mutation_p.I2313M|SYNE1_ENST00000341594.5_Missense_Mutation_p.I2350M|SYNE1_ENST00000448038.1_Missense_Mutation_p.I2320M|SYNE1_ENST00000423061.1_Missense_Mutation_p.I2320M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2313					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTATGTCATTAATAAACTTCT	0.378										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(6937-6939)atT>atG		spectrin repeat containing, nuclear envelope 1							147.0	128.0	135.0					6																	152722363		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152722363A>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6939T>G	6.37:g.152722363A>C	ENSP00000356224:p.Ile2313Met	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.I2320M|SYNE1_ENST00000448038.1_Missense_Mutation_p.I2320M|SYNE1_ENST00000265368.4_Missense_Mutation_p.I2313M|SYNE1_ENST00000341594.5_Missense_Mutation_p.I2350M	p.I2313M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	47	7540	-		Ovarian(120;0.0955)	2313					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.6939T>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	11.77	1.736364	0.30774	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.58	-0.923	0.10465	.	0.412070	0.20757	N	0.086257	T	0.15046	0.0363	L	0.55481	1.735	0.80722	D	1	P;B;B;B	0.38250	0.624;0.053;0.053;0.098	B;B;B;B	0.41088	0.347;0.031;0.031;0.069	T	0.07083	-1.0791	10	0.45353	T	0.12	.	3.1966	0.06635	0.3045:0.1453:0.4254:0.1248	.	2296;2313;2313;2320	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	M	2313;2320;2313;2320;2350	ENSP00000356224:I2313M;ENSP00000396024:I2320M;ENSP00000265368:I2313M;ENSP00000390975:I2320M;ENSP00000341887:I2350M	ENSP00000265368:I2313M	I	-	3	3	SYNE1	152764056	0.071000	0.21146	0.645000	0.29479	0.914000	0.54420	0.536000	0.23129	-0.388000	0.07797	0.482000	0.46254	ATT		0.378	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		24	60	0	0	0	1	0	24	60				
CYP2A13	1553	broad.mit.edu	37	19	41597687	41597687	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41597687A>G	ENST00000330436.3	+	5	705	c.705A>G	c.(703-705)caA>caG	p.Q235Q		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	235					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GACCACAGCAACAGGCCTTTA	0.572																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(703-705)caA>caG		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						104.0	84.0	91.0					19																	41597687		2203	4300	6503	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41597687A>G	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.705A>G	19.37:g.41597687A>G							p.Q235Q	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			5	705	+			235					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.705A>G	CCDS12571.1																																																																																				0.572	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		4	89	0	0	0	1	0	4	89				
TAS2R8	50836	broad.mit.edu	37	12	10959184	10959184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:10959184C>T	ENST00000240615.2	-	1	708	c.396G>A	c.(394-396)tgG>tgA	p.W132*		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	132					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCAGCAGGATCCAGTGCACCA	0.413																																						ENST00000240615.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(394-396)tgG>tgA		taste receptor, type 2, member 8							96.0	88.0	91.0					12																	10959184		2203	4299	6502	SO:0001587	stop_gained	50836				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10959184C>T	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.396G>A	12.37:g.10959184C>T	ENSP00000240615:p.Trp132*						p.W132*	NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN			1	708	-			132					Q4KN29|Q645Y2	Nonsense_Mutation	SNP	ENST00000240615.2	37	c.396G>A	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	C	34	5.342008	0.95783	.	.	ENSG00000121314	ENST00000240615	.	.	.	4.47	0.811	0.18739	.	0.924044	0.08834	U	0.886839	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	4.9053	0.13795	0.1496:0.6025:0.147:0.1009	.	.	.	.	X	132	.	ENSP00000240615:W132X	W	-	3	0	TAS2R8	10850451	0.000000	0.05858	0.000000	0.03702	0.319000	0.28217	-0.151000	0.10175	0.280000	0.22209	0.557000	0.71058	TGG		0.413	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			17	72	0	0	0	1	0	17	72				
CADM1	23705	broad.mit.edu	37	11	115102132	115102132	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:115102132G>A	ENST00000452722.3	-	4	523	c.503C>T	c.(502-504)gCt>gTt	p.A168V	CADM1_ENST00000536727.1_Missense_Mutation_p.A168V|CADM1_ENST00000331581.6_Missense_Mutation_p.A168V|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Missense_Mutation_p.A168V|CADM1_ENST00000542447.2_Missense_Mutation_p.A168V	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GCTGGCCATAGCAGTGCAGTT	0.463																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(502-504)gCt>gTt		cell adhesion molecule 1							266.0	221.0	237.0					11																	115102132		2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115102132G>A	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.503C>T	11.37:g.115102132G>A	ENSP00000395359:p.Ala168Val					CADM1_ENST00000331581.6_Missense_Mutation_p.A168V|CADM1_ENST00000537058.1_Missense_Mutation_p.A168V|CADM1_ENST00000536727.1_Missense_Mutation_p.A168V|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000452722.2_Missense_Mutation_p.A168V	p.A168V	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	4	631	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	168			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000452722.3	37	c.503C>T	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800963	0.90538	.	.	ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000542450;ENST00000543540;ENST00000545094	T;T;T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	6.17	6.17	0.99709	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80481	0.4631	L	0.32530	0.975	0.80722	D	1	D;D;D;B;D	0.71674	0.998;0.996;0.997;0.256;0.99	D;P;D;B;P	0.68483	0.958;0.898;0.938;0.224;0.831	T	0.74231	-0.3732	10	0.23302	T	0.38	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	168;168;169;168;168	Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.;.;.;CADM1_HUMAN;.	V	168;168;168;168;127;168;21;21;135	ENSP00000439176:A168V;ENSP00000395359:A168V;ENSP00000439817:A168V;ENSP00000440322:A168V;ENSP00000329797:A168V;ENSP00000442001:A21V;ENSP00000439847:A21V;ENSP00000439696:A135V	ENSP00000329797:A168V	A	-	2	0	CADM1	114607342	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.434000	0.97515	2.941000	0.99782	0.655000	0.94253	GCT		0.463	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		30	76	0	0	0	1	0	30	76				
GMIP	51291	broad.mit.edu	37	19	19751335	19751335	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:19751335T>C	ENST00000203556.4	-	5	421	c.284A>G	c.(283-285)gAc>gGc	p.D95G	GMIP_ENST00000445806.2_Missense_Mutation_p.D95G|GMIP_ENST00000587238.1_Missense_Mutation_p.D95G	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	95					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAGGGCTGCGTCCACACCCCC	0.572																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(283-285)gAc>gGc		GEM interacting protein							98.0	89.0	92.0					19																	19751335		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19751335T>C	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.284A>G	19.37:g.19751335T>C	ENSP00000203556:p.Asp95Gly					GMIP_ENST00000445806.2_Missense_Mutation_p.D95G|GMIP_ENST00000587238.1_Missense_Mutation_p.D95G	p.D95G	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			5	421	-			95					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.284A>G	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.395983	0.83011	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.49139	0.79;0.79	4.73	4.73	0.59995	.	0.163795	0.28772	N	0.014189	T	0.62146	0.2404	M	0.73962	2.25	0.52501	D	0.999957	P;P;P	0.48503	0.89;0.89;0.911	P;P;P	0.56216	0.735;0.735;0.794	T	0.66578	-0.5888	10	0.66056	D	0.02	-17.8688	12.2252	0.54455	0.0:0.0:0.0:1.0	.	95;95;95	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	G	95	ENSP00000203556:D95G;ENSP00000397075:D95G	ENSP00000203556:D95G	D	-	2	0	GMIP	19612335	1.000000	0.71417	0.906000	0.35671	0.864000	0.49448	7.022000	0.76431	1.983000	0.57843	0.459000	0.35465	GAC		0.572	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		31	77	0	0	0	1	0	31	77				
EXT2	2132	broad.mit.edu	37	11	44129281	44129281	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:44129281T>C	ENST00000343631.3	+	2	148	c.19T>C	c.(19-21)Tat>Cat	p.Y7H	EXT2_ENST00000395673.3_Missense_Mutation_p.Y40H|EXT2_ENST00000533608.1_Missense_Mutation_p.Y7H|EXT2_ENST00000358681.4_Missense_Mutation_p.Y7H			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	7					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GTCGGTCAAGTATAATATCCG	0.483			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"""Mis, N, F, S"""	multiple exostoses type 2 gene			M		"""exostoses, osteosarcoma"""			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(118-120)Tat>Cat		exostosin glycosyltransferase 2							117.0	114.0	115.0					11																	44129281		2203	4300	6503	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44129281T>C		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.19T>C	11.37:g.44129281T>C	ENSP00000342656:p.Tyr7His					EXT2_ENST00000533608.1_Missense_Mutation_p.Y7H|EXT2_ENST00000358681.4_Missense_Mutation_p.Y7H|EXT2_ENST00000343631.3_Missense_Mutation_p.Y7H	p.Y40H	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			2	174	+			7					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.118T>C	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.700027	0.30142	.	.	ENSG00000151348	ENST00000533608;ENST00000532479;ENST00000527014;ENST00000358681;ENST00000395673;ENST00000343631	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.31	4.19	0.49359	.	0.057694	0.64402	D	0.000001	T	0.29423	0.0733	N	0.24115	0.695	0.48341	D	0.999633	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.06481	-1.0824	10	0.66056	D	0.02	-11.0969	10.8322	0.46667	0.0:0.074:0.0:0.926	.	7;7;7;20	C9JU51;Q93063-2;Q93063;D3DR24	.;.;EXT2_HUMAN;.	H	7;7;7;7;40;7	ENSP00000431173:Y7H;ENSP00000433827:Y7H;ENSP00000434716:Y7H;ENSP00000351509:Y7H;ENSP00000379032:Y40H;ENSP00000342656:Y7H	ENSP00000342656:Y7H	Y	+	1	0	EXT2	44085857	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.869000	0.69613	0.872000	0.35775	0.528000	0.53228	TAT		0.483	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		18	69	0	0	0	1	0	18	69				
KIF2B	84643	broad.mit.edu	37	17	51900745	51900745	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:51900745G>A	ENST00000268919.4	+	1	507	c.351G>A	c.(349-351)gcG>gcA	p.A117A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	117					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AATGGGTTGCGATGATCCCCC	0.597																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(349-351)gcG>gcA		kinesin family member 2B							72.0	76.0	75.0					17																	51900745		2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900745G>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.351G>A	17.37:g.51900745G>A							p.A117A	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	507	+			117					Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.351G>A	CCDS32685.1																																																																																				0.597	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		48	118	0	0	0	1	0	48	118				
KMT2B	9757	broad.mit.edu	37	19	36210697	36210697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:36210697C>T	ENST00000222270.7	+	3	448	c.448C>T	c.(448-450)Cga>Tga	p.R150*	KMT2B_ENST00000341701.1_Nonsense_Mutation_p.R150*|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Nonsense_Mutation_p.R150*	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	150					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TCGAGCGCCCCGAGGTCGGGG	0.612																																						ENST00000420124.1																			0											c.(448-450)Cga>Tga									70.0	77.0	75.0					19																	36210697		1915	4119	6034	SO:0001587	stop_gained	9757							g.chr19:36210697C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.448C>T	19.37:g.36210697C>T	ENSP00000222270:p.Arg150*					WBP7_ENST00000341701.1_Nonsense_Mutation_p.R150*|KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Nonsense_Mutation_p.R150*	p.R150*							3	448	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Nonsense_Mutation	SNP	ENST00000222270.7	37	c.448C>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231893	0.79688	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	.	.	.	5.59	4.48	0.54585	.	0.000000	0.34676	N	0.003777	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4362	0.55600	0.1787:0.8213:0.0:0.0	.	.	.	.	X	150	.	ENSP00000222270:R150X	R	+	1	2	AD000671.1	40902537	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.296000	0.33389	2.632000	0.89209	0.561000	0.74099	CGA		0.612	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		39	145	0	0	0	1	0	39	145				
SP4	6671	broad.mit.edu	37	7	21521703	21521703	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:21521703G>A	ENST00000222584.3	+	5	2287	c.2069G>A	c.(2068-2070)cGg>cAg	p.R690Q		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	690					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AGATTCACACGGAGTGATGAG	0.363																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2068-2070)cGg>cAg		Sp4 transcription factor							130.0	125.0	127.0					7																	21521703		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21521703G>A		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.2069G>A	7.37:g.21521703G>A	ENSP00000222584:p.Arg690Gln						p.R690Q	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			5	2287	+			690					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.2069G>A	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	36	5.747544	0.96882	.	.	ENSG00000105866	ENST00000222584	T	0.07444	3.19	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.17492	0.0420	N	0.16037	0.36	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.08027	-1.0742	10	0.87932	D	0	.	20.1935	0.98237	0.0:0.0:1.0:0.0	.	690	Q02446	SP4_HUMAN	Q	690	ENSP00000222584:R690Q	ENSP00000222584:R690Q	R	+	2	0	SP4	21488228	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.779000	0.95612	0.591000	0.81541	CGG		0.363	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		6	149	0	0	0	1	0	6	149				
ZRANB3	84083	broad.mit.edu	37	2	135988280	135988280	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:135988280T>C	ENST00000264159.6	-	13	1873	c.1757A>G	c.(1756-1758)cAc>cGc	p.H586R	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.H586R|ZRANB3_ENST00000401392.1_Missense_Mutation_p.H586R	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	586					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CGGACTGCAGTGGTCTTCCGA	0.493																																						ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(1756-1758)cAc>cGc		zinc finger, RAN-binding domain containing 3							168.0	165.0	166.0					2																	135988280		1971	4162	6133	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135988280T>C	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1757A>G	2.37:g.135988280T>C	ENSP00000264159:p.His586Arg					ZRANB3_ENST00000264159.6_Missense_Mutation_p.H586R|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.H586R	p.H586R			Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	13	1969	-			586					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.1757A>G	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	T	1.752	-0.489040	0.04352	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.90004	-2.6;-2.59;-2.58	5.24	-8.45	0.00946	.	2.282740	0.01100	N	0.005346	T	0.77110	0.4082	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.66551	-0.5895	10	0.12766	T	0.61	-0.9281	9.304	0.37863	0.0:0.1788:0.3841:0.4371	.	586;586	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	R	51;51;586;586;586	ENSP00000383979:H586R;ENSP00000264159:H586R;ENSP00000441320:H586R	ENSP00000264159:H586R	H	-	2	0	ZRANB3	135704750	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-1.907000	0.01589	-1.634000	0.01537	0.460000	0.39030	CAC		0.493	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		39	127	0	0	0	1	0	39	127				
CASK	8573	broad.mit.edu	37	X	41390337	41390337	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:41390337T>G	ENST00000378163.1	-	25	2917	c.2443A>C	c.(2443-2445)Atg>Ctg	p.M815L	CASK_ENST00000361962.4_Missense_Mutation_p.M798L|CASK_ENST00000378158.1_Missense_Mutation_p.M798L|CASK_ENST00000421587.2_Missense_Mutation_p.M786L|CASK_ENST00000442742.2_Missense_Mutation_p.M787L|CASK_ENST00000318588.9_Missense_Mutation_p.M810L|CASK_ENST00000378166.4_Missense_Mutation_p.M810L			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	815	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GTCCCATACATCGCATCCTCG	0.483																																					NSCLC(42;104 1086 3090 27189 35040)	ENST00000318588.9																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						c.(2428-2430)Atg>Ctg		calcium/calmodulin-dependent serine protein kinase (MAGUK family)							225.0	147.0	174.0					X																	41390337		2203	4300	6503	SO:0001583	missense	8573				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	g.chrX:41390337T>G	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2443A>C	X.37:g.41390337T>G	ENSP00000367405:p.Met815Leu					CASK_ENST00000361962.4_Missense_Mutation_p.M798L|CASK_ENST00000442742.2_Missense_Mutation_p.M787L|CASK_ENST00000378158.1_Missense_Mutation_p.M798L|CASK_ENST00000421587.2_Missense_Mutation_p.M786L|CASK_ENST00000378163.1_Missense_Mutation_p.M815L|CASK_ENST00000378166.4_Missense_Mutation_p.M810L	p.M810L			O14936	CSKP_HUMAN			25	2473	-			815			Guanylate kinase-like.		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	ENST00000378163.1	37	c.2428A>C		.	.	.	.	.	.	.	.	.	.	T	11.28	1.592258	0.28357	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378168;ENST00000378158;ENST00000378166;ENST00000442742	T;T;T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48	4.85	4.85	0.62838	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.64402	D	0.000010	T	0.23532	0.0569	L	0.31207	0.915	0.80722	D	1	D;B;B;D;B	0.63880	0.984;0.016;0.093;0.993;0.329	D;B;B;D;B	0.80764	0.971;0.049;0.03;0.994;0.267	T	0.03483	-1.1032	10	0.21540	T	0.41	.	13.8475	0.63477	0.0:0.0:0.0:1.0	.	786;787;810;815;407	O14936-3;O14936-4;O14936-2;O14936;Q5JS72	.;.;.;CSKP_HUMAN;.	L	786;810;798;815;407;270;798;810;787	ENSP00000400526:M786L;ENSP00000322727:M810L;ENSP00000354641:M798L;ENSP00000367405:M815L;ENSP00000367421:M407L;ENSP00000367410:M270L;ENSP00000367400:M798L;ENSP00000367408:M810L;ENSP00000398007:M787L	ENSP00000322727:M810L	M	-	1	0	CASK	41275281	1.000000	0.71417	0.853000	0.33588	0.769000	0.43574	7.698000	0.84413	1.714000	0.51371	0.417000	0.27973	ATG		0.483	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		11	64	0	0	0	1	0	11	64				
SLC35D1	23169	broad.mit.edu	37	1	67507985	67507985	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:67507985A>G	ENST00000235345.5	-	8	748	c.663T>C	c.(661-663)taT>taC	p.Y221Y	SLC35D1_ENST00000506472.2_Silent_p.Y142Y	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	221					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						GTGCATTGTAATAGAGCAGTC	0.413																																						ENST00000235345.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						c.(661-663)taT>taC		solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	Lorazepam(DB00186)						279.0	269.0	273.0					1																	67507985		2203	4300	6503	SO:0001819	synonymous_variant	23169				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity	g.chr1:67507985A>G	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.663T>C	1.37:g.67507985A>G						SLC35D1_ENST00000506472.2_Silent_p.Y142Y	p.Y221Y	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN			8	748	-			221					A8K185|B7Z3X2|Q52LU5|Q92548	Silent	SNP	ENST00000235345.5	37	c.663T>C	CCDS636.1																																																																																				0.413	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139		6	186	0	0	0	1	0	6	186				
ACBD3	64746	broad.mit.edu	37	1	226340106	226340106	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:226340106C>G	ENST00000366812.5	-	7	1359	c.1305G>C	c.(1303-1305)tgG>tgC	p.W435C	ACBD3_ENST00000464927.1_5'Flank|RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	435	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		GAGAGTCTGTCCATTCAAAAT	0.473																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.(1303-1305)tgG>tgC		acyl-CoA binding domain containing 3							186.0	172.0	177.0					1																	226340106		2203	4300	6503	SO:0001583	missense	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226340106C>G	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.1305G>C	1.37:g.226340106C>G	ENSP00000355777:p.Trp435Cys					RP11-275I14.4_ENST00000440540.1_RNA	p.W435C	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	7	1359	-	Breast(184;0.158)		435			GOLD.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	c.1305G>C	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013846	0.75161	.	.	ENSG00000182827	ENST00000366812	T	0.43294	0.95	5.46	5.46	0.80206	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.71779	0.3380	M	0.89478	3.035	0.80722	D	1	D	0.69078	0.997	D	0.79784	0.993	T	0.77558	-0.2543	10	0.87932	D	0	-10.8581	19.3089	0.94177	0.0:1.0:0.0:0.0	.	435	Q9H3P7	GCP60_HUMAN	C	435	ENSP00000355777:W435C	ENSP00000355777:W435C	W	-	3	0	ACBD3	224406729	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.426000	0.80270	2.571000	0.86741	0.655000	0.94253	TGG		0.473	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		48	148	0	0	0	1	0	48	148				
SS18L1	26039	broad.mit.edu	37	20	60749635	60749635	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:60749635G>A	ENST00000331758.3	+	10	1125	c.1099G>A	c.(1099-1101)Gga>Aga	p.G367R	SS18L1_ENST00000421564.1_Missense_Mutation_p.G367R|SS18L1_ENST00000370848.4_Missense_Mutation_p.G370R	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	367	Gln-rich.|Necessary for nuclear localization. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CCAGCAGTACGGAAGCTACCG	0.632			T	SSX1	synovial sarcoma																																	ENST00000331758.3				Dom	yes		20	20q13.3	26039	T	synovial sarcoma translocation gene on chromosome 18-like 1			M	SSX1		synovial sarcoma	SS18L1/SSX1(2)	0				ovary(2)|skin(1)	3						c.(1099-1101)Gga>Aga		synovial sarcoma translocation gene on chromosome 18-like 1							83.0	88.0	86.0					20																	60749635		2203	4300	6503	SO:0001583	missense	26039				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore		g.chr20:60749635G>A	AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.1099G>A	20.37:g.60749635G>A	ENSP00000333012:p.Gly367Arg					SS18L1_ENST00000421564.1_Missense_Mutation_p.G367R|SS18L1_ENST00000370848.4_Missense_Mutation_p.G370R	p.G367R	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.92e-08)		10	1125	+	Breast(26;3.97e-09)		367			Gln-rich.|Necessary for nuclear localization (By similarity).		A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Missense_Mutation	SNP	ENST00000331758.3	37	c.1099G>A	CCDS13491.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747706	0.69533	.	.	ENSG00000184402	ENST00000421564;ENST00000331758;ENST00000370848	T;T;T	0.38077	1.19;1.19;1.16	5.02	5.02	0.67125	.	0.195826	0.44097	D	0.000483	T	0.43389	0.1245	L	0.46157	1.445	0.41228	D	0.986553	D;D	0.63880	0.993;0.987	P;P	0.53224	0.721;0.636	T	0.40997	-0.9533	10	0.87932	D	0	-9.6801	12.1168	0.53870	0.0793:0.0:0.9207:0.0	.	367;367	B4DSR7;O75177	.;CREST_HUMAN	R	367;367;370	ENSP00000393999:G367R;ENSP00000333012:G367R;ENSP00000359885:G370R	ENSP00000333012:G367R	G	+	1	0	SS18L1	60183030	1.000000	0.71417	0.988000	0.46212	0.953000	0.61014	6.234000	0.72326	2.503000	0.84419	0.491000	0.48974	GGA		0.632	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080004.2			56	189	0	0	0	1	0	56	189				
CCDC13	152206	broad.mit.edu	37	3	42793489	42793489	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:42793489G>A	ENST00000310232.6	-	5	625	c.542C>T	c.(541-543)gCc>gTc	p.A181V	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	181										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GGCCCCCTTGGCTGACAGCCT	0.572																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(541-543)gCc>gTc		coiled-coil domain containing 13							66.0	63.0	64.0					3																	42793489		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42793489G>A	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.542C>T	3.37:g.42793489G>A	ENSP00000309836:p.Ala181Val					CCDC13_ENST00000435327.2_5'UTR	p.A181V	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			5	625	-			181						Missense_Mutation	SNP	ENST00000310232.6	37	c.542C>T	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536750	0.27475	.	.	ENSG00000244607	ENST00000310232	T	0.25250	1.81	4.01	4.01	0.46588	.	0.656027	0.14916	N	0.290953	T	0.21761	0.0524	L	0.39397	1.21	0.28148	N	0.929528	B;B;B	0.20671	0.047;0.035;0.023	B;B;B	0.19946	0.02;0.027;0.011	T	0.04855	-1.0922	10	0.31617	T	0.26	.	11.938	0.52884	0.0:0.0:1.0:0.0	.	181;181;181	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	V	181	ENSP00000309836:A181V	ENSP00000309836:A181V	A	-	2	0	CCDC13	42768493	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	4.765000	0.62271	2.508000	0.84585	0.655000	0.94253	GCC		0.572	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		23	93	0	0	0	1	0	23	93				
RPL6	6128	broad.mit.edu	37	12	112843724	112843724	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:112843724T>C	ENST00000424576.2	-	6	832	c.647A>G	c.(646-648)tAc>tGc	p.Y216C	RPL6_ENST00000202773.9_Missense_Mutation_p.Y216C	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	216					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)|regulation of transcription, DNA-templated (GO:0006355)|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)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						CTTCTTGAAGTAAGCATCAGT	0.418																																						ENST00000424576.2																			0				cervix(1)|large_intestine(6)|lung(3)	10						c.(646-648)tAc>tGc		ribosomal protein L6							72.0	76.0	75.0					12																	112843724		2203	4297	6500	SO:0001583	missense	6128				endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome	g.chr12:112843724T>C	X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"""L ribosomal proteins"""	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.647A>G	12.37:g.112843724T>C	ENSP00000403172:p.Tyr216Cys					RPL6_ENST00000202773.9_Missense_Mutation_p.Y216C	p.Y216C	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN			6	832	-			216					Q2M3Q3|Q8WW97	Missense_Mutation	SNP	ENST00000424576.2	37	c.647A>G	CCDS9162.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283218	0.80803	.	.	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549923	T;T	0.35421	1.31;1.31	5.05	5.05	0.67936	Translation protein SH3-like, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.71048	0.3294	H	0.96239	3.79	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.81786	-0.0773	10	0.87932	D	0	.	14.8254	0.70107	0.0:0.0:0.0:1.0	.	216	Q02878	RL6_HUMAN	C	216;216;156	ENSP00000202773:Y216C;ENSP00000403172:Y216C	ENSP00000202773:Y216C	Y	-	2	0	RPL6	111328107	1.000000	0.71417	0.984000	0.44739	0.958000	0.62258	7.461000	0.80834	1.906000	0.55180	0.482000	0.46254	TAC		0.418	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405422.1			31	51	0	0	0	1	0	31	51				
PRKDC	5591	broad.mit.edu	37	8	48736553	48736553	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:48736553A>G	ENST00000314191.2	-	65	8841	c.8785T>C	c.(8785-8787)Tat>Cat	p.Y2929H	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Y2929H	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2930	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|KIP-binding.				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)	ATTGATCTATACAGCCTACAA	0.358								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.(8785-8787)Tat>Cat	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							75.0	67.0	70.0					8																	48736553		1834	4083	5917	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.chr8:48736553A>G		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.8785T>C	8.37:g.48736553A>G	ENSP00000313420:p.Tyr2929His					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Y2929H	p.Y2929H	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			65	8841	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2930			FAT.|KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.8785T>C		.	.	.	.	.	.	.	.	.	.	A	17.69	3.451379	0.63290	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.07444	3.26;3.19	5.29	5.29	0.74685	PIK-related kinase (1);	0.000000	0.64402	D	0.000001	T	0.31638	0.0803	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.05869	-1.0859	10	0.62326	D	0.03	.	15.5523	0.76164	1.0:0.0:0.0:0.0	.	2929;2930	E7EUY0;P78527	.;PRKDC_HUMAN	H	2929	ENSP00000313420:Y2929H;ENSP00000345182:Y2929H	ENSP00000313420:Y2929H	Y	-	1	0	PRKDC	48899106	1.000000	0.71417	0.637000	0.29366	0.288000	0.27193	8.896000	0.92521	2.141000	0.66446	0.528000	0.53228	TAT		0.358	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		6	60	0	0	0	1	0	6	60				
HIST1H4F	8361	broad.mit.edu	37	6	26240672	26240672	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:26240672G>T	ENST00000377745.2	+	1	112	c.19G>T	c.(19-21)Ggt>Tgt	p.G7C		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	7					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TAGAGGCAAAGGTGGTAAAGG	0.498																																						ENST00000377745.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(19-21)Ggt>Tgt		histone cluster 1, H4f							40.0	42.0	42.0					6																	26240672		2203	4300	6503	SO:0001583	missense	8361				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26240672G>T	M60749	CCDS4598.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198327			"""Histones / Replication-dependent"""	4783	protein-coding gene	gene with protein product		602824	"""H4 histone family, member C"", ""histone 1, H4f"""	H4FC		1916825, 9119399, 12408966	Standard	NM_003540		Approved	H4/c, H4	uc003nhe.1	P62805	OTTHUMG00000014443	ENST00000377745.2:c.19G>T	6.37:g.26240672G>T	ENSP00000366974:p.Gly7Cys						p.G7C	NM_003540.3	NP_003531.1	P62805	H4_HUMAN			1	112	+		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	7					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377745.2	37	c.19G>T	CCDS4598.1	.	.	.	.	.	.	.	.	.	.	.	17.84	3.486865	0.63962	.	.	ENSG00000198327	ENST00000377745	.	.	.	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.70919	0.3279	.	.	.	0.48830	D	0.999716	.	.	.	.	.	.	T	0.74896	-0.3508	6	0.66056	D	0.02	.	16.6943	0.85330	0.0:0.0:1.0:0.0	.	.	.	.	C	7	.	ENSP00000366974:G7C	G	+	1	0	HIST1H4F	26348651	1.000000	0.71417	0.106000	0.21319	0.033000	0.12548	9.222000	0.95196	2.503000	0.84419	0.655000	0.94253	GGT		0.498	HIST1H4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040106.1	NM_003540		5	52	1	0	1	1	1	5	52				
KRT25	147183	broad.mit.edu	37	17	38907488	38907488	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:38907488T>C	ENST00000312150.4	-	4	820	c.760A>G	c.(760-762)Aac>Gac	p.N254D		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GCTCGCATGTTGTTCAGCAGA	0.582																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(760-762)Aac>Gac		keratin 25							102.0	89.0	93.0					17																	38907488		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38907488T>C	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.760A>G	17.37:g.38907488T>C	ENSP00000310573:p.Asn254Asp						p.N254D	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			4	820	-		Breast(137;0.00526)	254			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000312150.4	37	c.760A>G	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.333941	0.41297	.	.	ENSG00000204897	ENST00000312150	D	0.86030	-2.06	5.84	5.84	0.93424	Filament (1);	0.000000	0.64402	D	0.000001	T	0.59715	0.2214	N	0.00808	-1.17	0.37433	D	0.914096	B	0.13594	0.008	B	0.18871	0.023	T	0.62025	-0.6941	10	0.21014	T	0.42	.	8.2564	0.31758	0.0:0.1509:0.0:0.8491	.	254	Q7Z3Z0	K1C25_HUMAN	D	254	ENSP00000310573:N254D	ENSP00000310573:N254D	N	-	1	0	KRT25	36161014	0.995000	0.38212	1.000000	0.80357	0.952000	0.60782	1.979000	0.40608	2.227000	0.72691	0.533000	0.62120	AAC		0.582	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		21	64	0	0	0	1	0	21	64				
EARS2	124454	broad.mit.edu	37	16	23546581	23546581	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:23546581G>A	ENST00000563459.1	-	4	592	c.586C>T	c.(586-588)Cca>Tca	p.P196S	EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Missense_Mutation_p.P196S|EARS2_ENST00000449606.1_Missense_Mutation_p.P196S|EARS2_ENST00000563232.1_Missense_Mutation_p.P196S			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	196					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		TGGAAGGCTGGCACCACCTGC	0.607																																						ENST00000449606.1																			0				central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(586-588)Cca>Tca		glutamyl-tRNA synthetase 2, mitochondrial	L-Glutamic Acid(DB00142)						51.0	53.0	52.0					16																	23546581		2089	4211	6300	SO:0001583	missense	124454				glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	g.chr16:23546581G>A	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.586C>T	16.37:g.23546581G>A	ENSP00000456467:p.Pro196Ser					EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Missense_Mutation_p.P196S|EARS2_ENST00000563459.1_Missense_Mutation_p.P196S|EARS2_ENST00000563232.1_Missense_Mutation_p.P196S	p.P196S	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN		GBM - Glioblastoma multiforme(48;0.0353)	4	617	-			196					B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	ENST00000563459.1	37	c.586C>T	CCDS42132.1	.	.	.	.	.	.	.	.	.	.	G	3.316	-0.139681	0.06669	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.21543	2.0	5.56	3.46	0.39613	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.263103	0.43579	D	0.000560	T	0.13286	0.0322	N	0.20845	0.615	0.18873	N	0.999986	B;B	0.15473	0.013;0.013	B;B	0.21546	0.011;0.035	T	0.23404	-1.0189	10	0.21014	T	0.42	-5.6146	11.5623	0.50785	0.0828:0.1672:0.75:0.0	.	196;196	Q86YH3;Q5JPH6	.;SYEM_HUMAN	S	196	ENSP00000395196:P196S	ENSP00000343488:P196S	P	-	1	0	EARS2	23454082	0.985000	0.35326	0.172000	0.22920	0.011000	0.07611	2.336000	0.43938	1.362000	0.46000	0.655000	0.94253	CCA		0.607	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		5	79	0	0	0	1	0	5	79				
ABCA13	154664	broad.mit.edu	37	7	48467465	48467465	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:48467465T>C	ENST00000435803.1	+	42	12586	c.12562T>C	c.(12562-12564)Tac>Cac	p.Y4188H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4188					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTGTCTGGCTACTGTAAGTA	0.448																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(12562-12564)Tac>Cac		ATP-binding cassette, sub-family A (ABC1), member 13							48.0	48.0	48.0					7																	48467465		1920	4144	6064	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48467465T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12562T>C	7.37:g.48467465T>C	ENSP00000411096:p.Tyr4188His						p.Y4188H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			42	12586	+			4188					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.12562T>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	2.484	-0.318971	0.05386	.	.	ENSG00000179869	ENST00000435803	D	0.91843	-2.92	4.59	-9.18	0.00688	.	2.106990	0.02082	N	0.052479	T	0.73674	0.3617	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.71474	-0.4582	10	0.10377	T	0.69	.	2.0954	0.03666	0.4229:0.3106:0.1071:0.1594	.	1890;4188	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	H	4188	ENSP00000411096:Y4188H	ENSP00000411096:Y4188H	Y	+	1	0	ABCA13	48438011	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.185000	0.03073	-2.087000	0.00862	-1.511000	0.00944	TAC		0.448	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		5	25	0	0	0	1	0	5	25				
FNDC3A	22862	broad.mit.edu	37	13	49772646	49772646	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:49772646A>G	ENST00000492622.2	+	23	3228	c.2923A>G	c.(2923-2925)Act>Gct	p.T975A	FNDC3A_ENST00000541916.1_Missense_Mutation_p.T975A|FNDC3A_ENST00000398316.3_Missense_Mutation_p.T919A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	975	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GGGAGAAGGAACTCCAAAGAC	0.398																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(2923-2925)Act>Gct		fibronectin type III domain containing 3A							127.0	115.0	119.0					13																	49772646		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49772646A>G	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2923A>G	13.37:g.49772646A>G	ENSP00000417257:p.Thr975Ala					FNDC3A_ENST00000398316.3_Missense_Mutation_p.T919A|FNDC3A_ENST00000541916.1_Missense_Mutation_p.T975A	p.T975A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	23	3228	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	975			Fibronectin type-III 8.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.2923A>G	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	A	9.894	1.205021	0.22205	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.56611	0.45;0.45;0.45	6.06	2.24	0.28232	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.244546	0.35207	N	0.003370	T	0.18130	0.0435	N	0.01576	-0.805	0.38427	D	0.946347	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.06197	-1.0840	10	0.09590	T	0.72	-3.422	5.186	0.15184	0.632:0.1402:0.2278:0.0	.	919;975	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	A	975;911;975;919	ENSP00000417257:T975A;ENSP00000441831:T975A;ENSP00000381362:T919A	ENSP00000338579:T911A	T	+	1	0	FNDC3A	48670647	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.450000	0.44943	0.509000	0.28195	0.528000	0.53228	ACT		0.398	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		23	102	0	0	0	1	0	23	102				
ATP5B	506	broad.mit.edu	37	12	57037293	57037293	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:57037293C>T	ENST00000262030.3	-	5	736	c.686G>A	c.(685-687)gGt>gAt	p.G229D	ATP5B_ENST00000550162.1_5'Flank|ATP5B_ENST00000552919.1_Missense_Mutation_p.G229D|SNORD59A_ENST00000384304.1_RNA	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	229					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CACAGAGTAACCACCATGGGC	0.433																																						ENST00000262030.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(685-687)gGt>gAt		ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide							117.0	108.0	111.0					12																	57037293		2203	4300	6503	SO:0001583	missense	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57037293C>T	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.686G>A	12.37:g.57037293C>T	ENSP00000262030:p.Gly229Asp					ATP5B_ENST00000552919.1_Missense_Mutation_p.G229D	p.G229D	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN			5	736	-			229					A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	c.686G>A	CCDS8924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.543337|4.543337	0.86022|0.86022	.|.	.|.	ENSG00000110955|ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000551020;ENST00000551570;ENST00000553007|ENST00000552959	D;D;D;D;D|.	0.81659|.	-1.52;-1.52;-1.52;-1.52;-1.52|.	6.04|6.04	6.04|6.04	0.98038|0.98038	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.73337|.	0.3574|.	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.68519|.	-0.5387|.	10|.	0.87932|.	D|.	0|.	-13.1179|-13.1179	19.3663|19.3663	0.94464|0.94464	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	229|.	P06576|.	ATPB_HUMAN|.	D|X	229;229;168;22;130|165	ENSP00000262030:G229D;ENSP00000450297:G229D;ENSP00000446677:G168D;ENSP00000448428:G22D;ENSP00000447571:G130D|.	ENSP00000262030:G229D|.	G|W	-|-	2|3	0|0	ATP5B|ATP5B	55323560|55323560	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.688000|7.688000	0.84153|0.84153	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GGT|TGG		0.433	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		32	116	0	0	0	1	0	32	116				
ENTPD4	9583	broad.mit.edu	37	8	23305363	23305363	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:23305363T>C	ENST00000358689.4	-	4	477	c.242A>G	c.(241-243)gAc>gGc	p.D81G	ENTPD4_ENST00000356206.6_Missense_Mutation_p.D81G|ENTPD4_ENST00000417069.2_Missense_Mutation_p.D81G	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	81					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GTTATTGGTGTCTGTAGCTTC	0.443																																						ENST00000358689.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(241-243)gAc>gGc		ectonucleoside triphosphate diphosphohydrolase 4							223.0	168.0	187.0					8																	23305363		2203	4300	6503	SO:0001583	missense	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23305363T>C	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.242A>G	8.37:g.23305363T>C	ENSP00000351520:p.Asp81Gly					ENTPD4_ENST00000356206.6_Missense_Mutation_p.D81G|ENTPD4_ENST00000417069.2_Missense_Mutation_p.D81G	p.D81G	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	4	477	-		Prostate(55;0.114)	81					D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	c.242A>G	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.865586	0.91511	.	.	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069;ENST00000518718	T;T;T	0.15718	2.4;2.4;2.4	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.997;0.997	D;D;D;D	0.74674	0.984;0.981;0.939;0.973	T	0.36648	-0.9739	10	0.72032	D	0.01	-32.0077	14.7984	0.69894	0.0:0.0:0.0:1.0	.	81;81;81;81	B4DU21;Q8NE73;Q9Y227-2;Q9Y227	.;.;.;ENTP4_HUMAN	G	81;81;81;47	ENSP00000348536:D81G;ENSP00000351520:D81G;ENSP00000408573:D81G	ENSP00000348536:D81G	D	-	2	0	ENTPD4	23361308	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.632000	0.83247	2.173000	0.68751	0.528000	0.53228	GAC		0.443	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		4	184	0	0	0	1	0	4	184				
P2RX4	5025	broad.mit.edu	37	12	121659765	121659765	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:121659765A>G	ENST00000337233.4	+	3	640	c.332A>G	c.(331-333)cAg>cGg	p.Q111R	P2RX4_ENST00000543171.1_Missense_Mutation_p.Q10R|P2RX4_ENST00000541532.1_Missense_Mutation_p.Q111R|P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000359949.7_Missense_Mutation_p.Q127R	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	111					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACCATGAACCAGACACAGGGC	0.657																																						ENST00000337233.4																			0				breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17						c.(331-333)cAg>cGg		purinergic receptor P2X, ligand-gated ion channel, 4							149.0	142.0	145.0					12																	121659765		2203	4300	6503	SO:0001583	missense	5025				endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding	g.chr12:121659765A>G	Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.332A>G	12.37:g.121659765A>G	ENSP00000336607:p.Gln111Arg					P2RX4_ENST00000543171.1_Missense_Mutation_p.Q10R|P2RX4_ENST00000541532.1_Missense_Mutation_p.Q111R|P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000359949.7_Missense_Mutation_p.Q127R	p.Q111R	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN			3	640	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		111					E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Missense_Mutation	SNP	ENST00000337233.4	37	c.332A>G	CCDS9214.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.337634	0.81911	.	.	ENSG00000135124	ENST00000337233;ENST00000359949;ENST00000541532;ENST00000543171;ENST00000542067	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	4.89	4.89	0.63831	.	0.229031	0.48286	D	0.000194	T	0.37945	0.1022	M	0.87097	2.86	0.49051	D	0.999743	D;D;D	0.76494	0.983;0.999;0.999	P;D;D	0.91635	0.903;0.999;0.999	T	0.40813	-0.9543	10	0.87932	D	0	-19.5236	13.8424	0.63446	1.0:0.0:0.0:0.0	.	111;127;111	F6RU17;E7EPF7;Q99571	.;.;P2RX4_HUMAN	R	111;127;111;10;111	ENSP00000336607:Q111R;ENSP00000353032:Q127R;ENSP00000443115:Q111R;ENSP00000438131:Q10R;ENSP00000438329:Q111R	ENSP00000336607:Q111R	Q	+	2	0	P2RX4	120144148	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	8.252000	0.89840	2.056000	0.61249	0.459000	0.35465	CAG		0.657	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402545.1	NM_175567		155	258	0	0	0	1	0	155	258				
TBC1D31	93594	broad.mit.edu	37	8	124121584	124121584	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:124121584A>G	ENST00000287380.1	+	9	1327	c.1237A>G	c.(1237-1239)Aag>Gag	p.K413E	TBC1D31_ENST00000327098.5_Missense_Mutation_p.K413E|TBC1D31_ENST00000309336.3_Missense_Mutation_p.K413E|TBC1D31_ENST00000518805.1_Missense_Mutation_p.K46E|TBC1D31_ENST00000522420.1_Missense_Mutation_p.K308E|TBC1D31_ENST00000521676.1_Missense_Mutation_p.K308E|TBC1D31_ENST00000378080.2_Missense_Mutation_p.K308E	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	413						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										ATTAAACAAAAAGCGTTTACA	0.264																																						ENST00000287380.1																			0											c.(1237-1239)Aag>Gag		TBC1 domain family, member 31							51.0	56.0	54.0					8																	124121584		2195	4295	6490	SO:0001583	missense	93594							g.chr8:124121584A>G	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1237A>G	8.37:g.124121584A>G	ENSP00000287380:p.Lys413Glu					TBC1D31_ENST00000518805.1_Missense_Mutation_p.K46E|TBC1D31_ENST00000309336.3_Missense_Mutation_p.K413E|TBC1D31_ENST00000521676.1_Missense_Mutation_p.K308E|TBC1D31_ENST00000522420.1_Missense_Mutation_p.K308E|TBC1D31_ENST00000327098.5_Missense_Mutation_p.K413E|TBC1D31_ENST00000378080.2_Missense_Mutation_p.K308E	p.K413E	NM_145647.3	NP_663622.2					9	1327	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.1237A>G	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.912164	0.33721	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000519418;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080;ENST00000518805	T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	5.43	5.43	0.79202	.	0.044892	0.85682	D	0.000000	T	0.33265	0.0857	M	0.77616	2.38	0.49798	D	0.999828	P;B;B	0.43431	0.807;0.329;0.43	B;B;B	0.37692	0.256;0.065;0.122	T	0.19128	-1.0315	10	0.30854	T	0.27	-29.2446	11.4791	0.50316	0.8498:0.1502:0.0:0.0	.	413;308;413	B7ZL19;E7ERK7;Q96DN5	.;.;WDR67_HUMAN	E	413;413;81;413;308;308;308;46	ENSP00000287380:K413E;ENSP00000308358:K413E;ENSP00000430927:K81E;ENSP00000312701:K413E;ENSP00000429334:K308E;ENSP00000430628:K308E;ENSP00000367320:K308E;ENSP00000429494:K46E	ENSP00000287380:K413E	K	+	1	0	WDR67	124190765	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	6.358000	0.73055	2.052000	0.61016	0.397000	0.26171	AAG		0.264	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		4	76	0	0	0	1	0	4	76				
TACR2	6865	broad.mit.edu	37	10	71164842	71164842	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:71164842T>C	ENST00000373306.4	-	5	1482		c.e5-2		TACR2_ENST00000373307.1_Splice_Site	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2						excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GAGCGAAACCTGGGGGAGCGA	0.617																																						ENST00000373306.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.e5-2		tachykinin receptor 2	Clonidine(DB00575)|Octreotide(DB00104)						70.0	61.0	64.0					10																	71164842		2203	4300	6503	SO:0001630	splice_region_variant	6865				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity	g.chr10:71164842T>C		CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.939-2A>G	10.37:g.71164842T>C						TACR2_ENST00000373307.1_Splice_Site		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN			5	1482	-								A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Splice_Site	SNP	ENST00000373306.4	37		CCDS7293.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098934	0.76870	.	.	ENSG00000075073	ENST00000373307;ENST00000373306	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4988	0.75680	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TACR2	70834848	1.000000	0.71417	0.978000	0.43139	0.842000	0.47809	6.183000	0.72002	2.121000	0.65114	0.459000	0.35465	.		0.617	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1		Intron	16	54	0	0	0	1	0	16	54				
C10orf12	26148	broad.mit.edu	37	10	98741199	98741199	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:98741199G>A	ENST00000286067.2	+	1	159	c.52G>A	c.(52-54)Gag>Aag	p.E18K		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	18										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AATGGCAGCTGAGAATAGTGA	0.383																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(52-54)Gag>Aag		chromosome 10 open reading frame 12							79.0	77.0	78.0					10																	98741199		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98741199G>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.52G>A	10.37:g.98741199G>A	ENSP00000286067:p.Glu18Lys						p.E18K	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	159	+		Colorectal(252;0.172)	18					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.52G>A	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511064	0.64522	.	.	ENSG00000155640	ENST00000286067	T	0.07800	3.16	5.85	5.85	0.93711	.	0.459335	0.17967	N	0.155985	T	0.17152	0.0412	L	0.29908	0.895	0.38589	D	0.950384	D	0.60575	0.988	P	0.60236	0.871	T	0.04090	-1.0978	10	0.30078	T	0.28	-15.2653	18.3445	0.90317	0.0:0.0:1.0:0.0	.	18	Q8N655	CJ012_HUMAN	K	18	ENSP00000286067:E18K	ENSP00000286067:E18K	E	+	1	0	C10orf12	98731189	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	2.596000	0.46205	2.775000	0.95449	0.591000	0.81541	GAG		0.383	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		15	66	0	0	0	1	0	15	66				
PWP2	5822	broad.mit.edu	37	21	45540617	45540617	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:45540617T>C	ENST00000291576.7	+	12	1570	c.1443T>C	c.(1441-1443)ttT>ttC	p.F481F		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	481					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		AGGACTCCTTTGAGATTTTCG	0.627																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(1441-1443)ttT>ttC		PWP2 periodic tryptophan protein homolog (yeast)							80.0	76.0	78.0					21																	45540617		2203	4300	6503	SO:0001819	synonymous_variant	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45540617T>C		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1443T>C	21.37:g.45540617T>C							p.F481F	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	12	1570	+			481					B2RAG8|Q96A77	Silent	SNP	ENST00000291576.7	37	c.1443T>C	CCDS33579.1																																																																																				0.627	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		9	101	0	0	0	1	0	9	101				
ANK3	288	broad.mit.edu	37	10	61815451	61815451	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:61815451G>T	ENST00000280772.2	-	42	13221	c.13030C>A	c.(13030-13032)Cat>Aat	p.H4344N	ANK3_ENST00000373827.2_Missense_Mutation_p.H1828N|ANK3_ENST00000355288.2_Missense_Mutation_p.H968N|ANK3_ENST00000503366.1_Missense_Mutation_p.H1835N|RP11-388P9.2_ENST00000414383.1_RNA	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4344					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTTCTTCATGGAGGCTAAGC	0.468																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(13030-13032)Cat>Aat		ankyrin 3, node of Ranvier (ankyrin G)							236.0	229.0	232.0					10																	61815451		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61815451G>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.13030C>A	10.37:g.61815451G>T	ENSP00000280772:p.His4344Asn					ANK3_ENST00000373827.2_Missense_Mutation_p.H1828N|ANK3_ENST00000503366.1_Missense_Mutation_p.H1835N|ANK3_ENST00000355288.2_Missense_Mutation_p.H968N	p.H4344N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			42	13221	-			4344					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.13030C>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630992	0.67015	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000502769;ENST00000355288;ENST00000503366;ENST00000395299;ENST00000373817	T;T;T;T;T;T	0.75477	-0.03;-0.23;-0.94;0.93;0.51;-0.24	6.03	6.03	0.97812	.	0.347798	0.20597	N	0.089223	T	0.66096	0.2755	N	0.19112	0.55	0.80722	D	1	B;B;B;P;B;B;B	0.43094	0.001;0.016;0.001;0.799;0.027;0.016;0.435	B;B;B;B;B;B;B	0.44224	0.002;0.004;0.001;0.444;0.01;0.004;0.078	T	0.66563	-0.5892	10	0.41790	T	0.15	.	15.1273	0.72493	0.0:0.1404:0.8596:0.0	.	1835;968;1828;4344;1069;968;367	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2;B1AQT0	.;.;.;ANK3_HUMAN;.;.;.	N	4344;1828;426;116;968;1835;1814;1069	ENSP00000280772:H4344N;ENSP00000362933:H1828N;ENSP00000362926:H426N;ENSP00000423057:H116N;ENSP00000347436:H968N;ENSP00000425236:H1835N	ENSP00000280772:H4344N	H	-	1	0	ANK3	61485457	1.000000	0.71417	0.580000	0.28601	0.802000	0.45316	3.792000	0.55476	2.868000	0.98415	0.555000	0.69702	CAT		0.468	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		81	252	1	0	1.72036e-36	1	1.82387e-36	81	252				
GRXCR1	389207	broad.mit.edu	37	4	43032386	43032386	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:43032386G>A	ENST00000399770.2	+	4	702	c.702G>A	c.(700-702)caG>caA	p.Q234Q		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	234	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AGAGAGTACAGCATCCACATG	0.493																																						ENST00000399770.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						c.(700-702)caG>caA		glutaredoxin, cysteine rich 1							102.0	99.0	100.0					4																	43032386		1988	4151	6139	SO:0001819	synonymous_variant	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:43032386G>A		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.702G>A	4.37:g.43032386G>A							p.Q234Q	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN			4	702	+			234			Glutaredoxin.			Silent	SNP	ENST00000399770.2	37	c.702G>A	CCDS43225.1																																																																																				0.493	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		19	90	0	0	0	1	0	19	90				
WNT5A	7474	broad.mit.edu	37	3	55513547	55513547	+	Silent	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:55513547A>T	ENST00000474267.1	-	4	707	c.186T>A	c.(184-186)atT>atA	p.I62I	WNT5A_ENST00000497027.1_Silent_p.I47I|WNT5A_ENST00000264634.4_Silent_p.I62I			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	62					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|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)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GTGCTCCTATAATATATACTT	0.488																																						ENST00000474267.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(184-186)atT>atA		wingless-type MMTV integration site family, member 5A							134.0	130.0	131.0					3																	55513547		1906	4120	6026	SO:0001819	synonymous_variant	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55513547A>T	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.186T>A	3.37:g.55513547A>T						WNT5A_ENST00000264634.4_Silent_p.I62I|WNT5A_ENST00000497027.1_Silent_p.I47I	p.I62I			P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	4	707	-			62					A8K4A4|Q6P278	Silent	SNP	ENST00000474267.1	37	c.186T>A	CCDS46850.1																																																																																				0.488	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		51	125	0	0	0	1	0	51	125				
SRCAP	10847	broad.mit.edu	37	16	30735661	30735661	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30735661G>A	ENST00000262518.4	+	25	5301	c.4916G>A	c.(4915-4917)gGa>gAa	p.G1639E	SRCAP_ENST00000395059.2_Missense_Mutation_p.G1577E|SRCAP_ENST00000344771.4_Missense_Mutation_p.G1481E	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1639	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCTACTCCAGGAACCTCTTTA	0.577																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(4915-4917)gGa>gAa		Snf2-related CREBBP activator protein							94.0	93.0	94.0					16																	30735661		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30735661G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4916G>A	16.37:g.30735661G>A	ENSP00000262518:p.Gly1639Glu					SRCAP_ENST00000395059.2_Missense_Mutation_p.G1577E|SRCAP_ENST00000344771.4_Missense_Mutation_p.G1481E	p.G1639E	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	5301	+			1639			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.4916G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	6.865	0.528988	0.13127	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91686	-2.74;-2.8;-2.89	5.68	2.21	0.28008	.	0.142079	0.32987	N	0.005408	D	0.87422	0.6173	N	0.19112	0.55	0.18873	N	0.999982	P;P;P	0.48016	0.739;0.904;0.845	B;P;B	0.49887	0.398;0.625;0.421	T	0.80301	-0.1440	10	0.62326	D	0.03	-1.7346	8.7869	0.34825	0.0:0.2412:0.4881:0.2708	.	1481;1577;1639	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	E	1639;1577;1481	ENSP00000262518:G1639E;ENSP00000378499:G1577E;ENSP00000343042:G1481E	ENSP00000262518:G1639E	G	+	2	0	SRCAP	30643162	0.491000	0.26019	0.989000	0.46669	0.983000	0.72400	0.694000	0.25512	0.705000	0.31890	0.557000	0.71058	GGA		0.577	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		39	134	0	0	0	1	0	39	134				
DCAF4L1	285429	broad.mit.edu	37	4	41984194	41984194	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:41984194T>C	ENST00000333141.5	+	1	482	c.385T>C	c.(385-387)Tcc>Ccc	p.S129P		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	129										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GAAGGTGAAGTCCCTGTGCTG	0.572																																						ENST00000333141.5																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						c.(385-387)Tcc>Ccc		DDB1 and CUL4 associated factor 4-like 1							107.0	101.0	103.0					4																	41984194		2203	4300	6503	SO:0001583	missense	285429							g.chr4:41984194T>C	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.385T>C	4.37:g.41984194T>C	ENSP00000327796:p.Ser129Pro						p.S129P	NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN			1	482	+			129					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	c.385T>C	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.754863	0.31046	.	.	ENSG00000182308	ENST00000333141	T	0.73575	-0.76	0.688	-1.38	0.09027	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.199370	0.56097	D	0.000036	T	0.61850	0.2380	L	0.55834	1.745	0.37069	D	0.898439	B	0.25667	0.131	B	0.17722	0.019	T	0.46843	-0.9162	9	0.46703	T	0.11	.	.	.	.	.	129	Q3SXM0	DC4L1_HUMAN	P	129	ENSP00000327796:S129P	ENSP00000327796:S129P	S	+	1	0	DCAF4L1	41678951	1.000000	0.71417	0.465000	0.27155	0.435000	0.31806	3.024000	0.49674	-0.677000	0.05231	-0.940000	0.02684	TCC		0.572	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		44	129	0	0	0	1	0	44	129				
PLCE1	51196	broad.mit.edu	37	10	95993879	95993879	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:95993879A>G	ENST00000371380.3	+	5	2259	c.2024A>G	c.(2023-2025)aAg>aGg	p.K675R	PLCE1_ENST00000260766.3_Missense_Mutation_p.K675R|PLCE1_ENST00000371385.3_Missense_Mutation_p.K367R|PLCE1_ENST00000371375.1_Missense_Mutation_p.K367R			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	675	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGGAGCCTGAAGGATGCTATG	0.468																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(2023-2025)aAg>aGg		phospholipase C, epsilon 1							130.0	128.0	129.0					10																	95993879		2002	4178	6180	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95993879A>G		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2024A>G	10.37:g.95993879A>G	ENSP00000360431:p.Lys675Arg					PLCE1_ENST00000371375.1_Missense_Mutation_p.K367R|PLCE1_ENST00000371385.3_Missense_Mutation_p.K367R|PLCE1_ENST00000371380.2_Missense_Mutation_p.K675R	p.K675R	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			6	2658	+		Colorectal(252;0.0458)	675			Ras-GEF.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.2024A>G	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.955923	0.73902	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.77	5.77	0.91146	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	L	0.51422	1.61	0.43292	D	0.995277	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.995;0.984	T	0.29366	-1.0014	10	0.23891	T	0.37	.	16.3818	0.83467	1.0:0.0:0.0:0.0	.	675;367;675	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	R	675;675;367;367	ENSP00000260766:K675R;ENSP00000360431:K675R;ENSP00000360438:K367R;ENSP00000360426:K367R	ENSP00000260766:K675R	K	+	2	0	PLCE1	95983869	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	8.870000	0.92336	2.330000	0.79161	0.528000	0.53228	AAG		0.468	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		17	78	0	0	0	1	0	17	78				
CEP120	153241	broad.mit.edu	37	5	122725654	122725654	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:122725654A>G	ENST00000306467.5	-	8	1523	c.1219T>C	c.(1219-1221)Tta>Cta	p.L407L	CEP120_ENST00000328236.5_Silent_p.L407L|CEP120_ENST00000306481.6_Silent_p.L381L			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	407					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TCATACTGTAAACTTTCCACT	0.388																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1219-1221)Tta>Cta		centrosomal protein 120kDa							172.0	156.0	161.0					5																	122725654		1896	4119	6015	SO:0001819	synonymous_variant	153241					centrosome		g.chr5:122725654A>G	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1219T>C	5.37:g.122725654A>G						CEP120_ENST00000328236.5_Silent_p.L407L|CEP120_ENST00000306481.6_Silent_p.L381L	p.L407L			Q8N960	CE120_HUMAN			8	1523	-			407					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Silent	SNP	ENST00000306467.5	37	c.1219T>C	CCDS4134.2																																																																																				0.388	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		4	82	0	0	0	1	0	4	82				
FOXM1	2305	broad.mit.edu	37	12	2968215	2968215	+	Silent	SNP	C	C	T	rs374998139		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:2968215C>T	ENST00000359843.3	-	9	1949	c.1881G>A	c.(1879-1881)acG>acA	p.T627T	AC005841.1_ENST00000382678.3_5'Flank|FOXM1_ENST00000342628.2_Silent_p.T665T|Y_RNA_ENST00000410561.1_RNA|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Silent_p.T612T	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	627					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TGGCTGGGGGCGTGAGCCTCC	0.592																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(1993-1995)acG>acA		forkhead box M1		C	,,	1,4405		0,1,2202	52.0	61.0	58.0		1881,1995,1836	-1.0	1.0	12		58	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	FOXM1	NM_021953.3,NM_202002.2,NM_202003.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	627/764,665/802,612/749	2968215	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2968215C>T	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1881G>A	12.37:g.2968215C>T						ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Silent_p.T612T|FOXM1_ENST00000359843.3_Silent_p.T627T	p.T665T	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		10	2108	-			627					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	c.1995G>A	CCDS8515.1																																																																																				0.592	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		6	200	0	0	0	1	0	6	200				
CLCNKA	1187	broad.mit.edu	37	1	16353263	16353263	+	Silent	SNP	C	C	A	rs548769869	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:16353263C>A	ENST00000331433.4	+	7	667	c.648C>A	c.(646-648)ccC>ccA	p.P216P	CLCNKA_ENST00000420078.1_Silent_p.P216P|CLCNKA_ENST00000375692.1_Silent_p.P216P|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Silent_p.P173P			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	216					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TTGCAGCTCCCTTCAGCGGTG	0.662																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(646-648)ccC>ccA		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						52.0	56.0	55.0					1																	16353263		2203	4300	6503	SO:0001819	synonymous_variant	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16353263C>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.648C>A	1.37:g.16353263C>A						CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Silent_p.P216P|CLCNKA_ENST00000331433.4_Silent_p.P216P|CLCNKA_ENST00000439316.2_Silent_p.P173P	p.P216P			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	8	776	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	216					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	ENST00000331433.4	37	c.648C>A	CCDS167.1																																																																																				0.662	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			28	78	1	0	5.45727e-16	1	5.72372e-16	28	78				
TCHH	7062	broad.mit.edu	37	1	152083774	152083774	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:152083774T>C	ENST00000368804.1	-	2	1918	c.1919A>G	c.(1918-1920)gAg>gGg	p.E640G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	640	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGCCTCTCCTCCTGCTCCTC	0.672																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(1918-1920)gAg>gGg		trichohyalin							45.0	51.0	49.0					1																	152083774		2007	4173	6180	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152083774T>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1919A>G	1.37:g.152083774T>C	ENSP00000357794:p.Glu640Gly						p.E640G	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1918	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		640			9 X 28 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.1919A>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	T	11.31	1.600851	0.28534	.	.	ENSG00000159450	ENST00000368804	T	0.05855	3.38	3.55	2.4	0.29515	.	.	.	.	.	T	0.02047	0.0064	N	0.24115	0.695	0.09310	N	1	P	0.45531	0.86	P	0.46362	0.514	T	0.43798	-0.9369	9	0.51188	T	0.08	.	5.4314	0.16456	0.0:0.2488:0.0:0.7512	.	640	Q07283	TRHY_HUMAN	G	640	ENSP00000357794:E640G	ENSP00000357794:E640G	E	-	2	0	TCHH	150350398	0.000000	0.05858	0.002000	0.10522	0.367000	0.29736	0.121000	0.15667	0.399000	0.25367	0.319000	0.21371	GAG		0.672	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		55	139	0	0	0	1	0	55	139				
HNRNPA1	3178	broad.mit.edu	37	12	54677727	54677727	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:54677727T>A	ENST00000340913.6	+	9	1092	c.1039T>A	c.(1039-1041)Tac>Aac	p.Y347N	HNRNPA1_ENST00000547276.1_Missense_Mutation_p.Y242N|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.Y282N|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.Y295N	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	347	Gly-rich.|Nuclear targeting sequence (M9).				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGGAGGCCAATACTTTGCAAA	0.428																																					Colon(83;502 1289 8436 16406 24870)	ENST00000546500.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(883-885)Tac>Aac		heterogeneous nuclear ribonucleoprotein A1							47.0	52.0	50.0					12																	54677727		2058	4201	6259	SO:0001583	missense	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54677727T>A	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.1039T>A	12.37:g.54677727T>A	ENSP00000341826:p.Tyr347Asn					RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.Y242N|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.Y282N|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.Y347N	p.Y295N			P09651	ROA1_HUMAN			8	1498	+			347			Gly-rich.		A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	c.883T>A	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.632841	0.29068	.	.	ENSG00000135486	ENST00000546500;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551133;ENST00000547276;ENST00000550482	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	4.06	4.06	0.47325	.	0.191791	0.25735	N	0.028644	D	0.89784	0.6815	L	0.42245	1.32	0.22317	N	0.999208	B;B;B;B;D;B;B	0.61080	0.021;0.012;0.035;0.035;0.989;0.035;0.038	B;B;B;B;D;B;B	0.66979	0.007;0.017;0.017;0.017;0.948;0.017;0.011	T	0.80759	-0.1239	10	0.41790	T	0.15	.	7.8301	0.29338	0.0:0.0:0.2114:0.7886	.	273;282;295;295;242;295;347	Q9BSM5;F8VRQ1;F8W6I7;F8VSB5;P09651-3;P09651-2;P09651	.;.;.;.;.;.;ROA1_HUMAN	N	295;279;295;347;295;295;282;242;166	ENSP00000448617:Y295N;ENSP00000341826:Y347N;ENSP00000447260:Y242N;ENSP00000446486:Y166N	ENSP00000333504:Y295N	Y	+	1	0	HNRNPA1	52963994	0.643000	0.27269	1.000000	0.80357	0.368000	0.29767	0.551000	0.23361	2.080000	0.62538	0.459000	0.35465	TAC		0.428	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		49	91	0	0	0	1	0	49	91				
OR51S1	119692	broad.mit.edu	37	11	4870327	4870327	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:4870327G>A	ENST00000322101.2	-	1	187	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAATGAGGGGCAATGTCCAC	0.582																																						ENST00000322101.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(112-114)Ccc>Tcc		olfactory receptor, family 51, subfamily S, member 1							107.0	93.0	98.0					11																	4870327		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4870327G>A	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.112C>T	11.37:g.4870327G>A	ENSP00000322754:p.Pro38Ser					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.P38S	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	187	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	38					B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.112C>T	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.518302	0.27211	.	.	ENSG00000176922	ENST00000322101	T	0.00378	7.67	5.45	3.51	0.40186	.	0.337558	0.21752	N	0.069647	T	0.00178	0.0005	N	0.08118	0	0.28029	N	0.934208	P	0.37441	0.595	B	0.31016	0.123	T	0.50541	-0.8816	10	0.87932	D	0	-20.2751	9.719	0.40291	0.0746:0.0:0.786:0.1394	.	38	Q8NGJ8	O51S1_HUMAN	S	38	ENSP00000322754:P38S	ENSP00000322754:P38S	P	-	1	0	OR51S1	4826903	0.167000	0.22975	0.675000	0.29917	0.024000	0.10985	2.726000	0.47302	1.539000	0.49286	0.563000	0.77884	CCC		0.582	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		26	96	0	0	0	1	0	26	96				
PNRC1	10957	broad.mit.edu	37	6	89793537	89793537	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:89793537T>C	ENST00000336032.3	+	2	723	c.606T>C	c.(604-606)ggT>ggC	p.G202G	PNRC1_ENST00000369472.1_Silent_p.G17G|PNRC1_ENST00000354922.3_Silent_p.G17G	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		TTGTTCATGGTATACACTTGT	0.348										Multiple Myeloma(7;0.094)																												ENST00000336032.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(604-606)ggT>ggC		proline-rich nuclear receptor coactivator 1							59.0	59.0	59.0					6																	89793537		2203	4300	6503	SO:0001819	synonymous_variant	10957				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:89793537T>C	U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"""proline rich 2"""	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.606T>C	6.37:g.89793537T>C		Multiple Myeloma(7;0.094)				PNRC1_ENST00000369472.1_Silent_p.G17G|PNRC1_ENST00000354922.3_Silent_p.G17G	p.G202G	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.102)	2	723	+		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	202					B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Silent	SNP	ENST00000336032.3	37	c.606T>C	CCDS5018.1																																																																																				0.348	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041471.1	NM_006813		10	42	0	0	0	1	0	10	42				
BIRC6	57448	broad.mit.edu	37	2	32640742	32640742	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:32640742A>C	ENST00000421745.2	+	10	2517	c.2383A>C	c.(2383-2385)Aat>Cat	p.N795H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	795					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAATGGTGCAAATATTAGTGT	0.363																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(2383-2385)Aat>Cat		baculoviral IAP repeat containing 6							62.0	66.0	65.0					2																	32640742		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32640742A>C	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2383A>C	2.37:g.32640742A>C	ENSP00000393596:p.Asn795His						p.N795H	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			10	2517	+	Acute lymphoblastic leukemia(172;0.155)		795					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.2383A>C	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	11.14	1.552175	0.27739	.	.	ENSG00000115760	ENST00000421745	T	0.74421	-0.84	5.65	3.31	0.37934	.	0.356349	0.29093	N	0.013179	T	0.54095	0.1837	N	0.08118	0	0.26247	N	0.978777	B	0.28512	0.214	B	0.31016	0.123	T	0.53258	-0.8464	10	0.66056	D	0.02	.	9.3173	0.37941	0.8557:0.0:0.1443:0.0	.	795	Q9NR09	BIRC6_HUMAN	H	795	ENSP00000393596:N795H	ENSP00000393596:N795H	N	+	1	0	BIRC6	32494246	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.770000	0.55310	0.982000	0.38575	0.533000	0.62120	AAT		0.363	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		58	70	0	0	0	1	0	58	70				
WNK1	65125	broad.mit.edu	37	12	994688	994688	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:994688C>A	ENST00000315939.6	+	19	5361	c.4718C>A	c.(4717-4719)cCa>cAa	p.P1573Q	WNK1_ENST00000537687.1_Missense_Mutation_p.P1833Q|WNK1_ENST00000340908.4_Missense_Mutation_p.P1166Q|WNK1_ENST00000535572.1_Missense_Mutation_p.P1326Q|WNK1_ENST00000530271.2_Missense_Mutation_p.P2071Q	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1573					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTGGTCATTCCATCAGTGATA	0.493																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(5497-5499)cCa>cAa		WNK lysine deficient protein kinase 1							300.0	285.0	290.0					12																	994688		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994688C>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4718C>A	12.37:g.994688C>A	ENSP00000313059:p.Pro1573Gln					WNK1_ENST00000530271.2_Missense_Mutation_p.P2071Q|WNK1_ENST00000340908.4_Missense_Mutation_p.P1166Q|WNK1_ENST00000535572.1_Missense_Mutation_p.P1326Q|WNK1_ENST00000315939.6_Missense_Mutation_p.P1573Q	p.P1833Q	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	6141	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1573					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.5498C>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734463	0.30774	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.41	4.51	0.55191	.	0.305445	0.28470	N	0.015229	T	0.43366	0.1244	L	0.50333	1.59	0.38049	D	0.935709	B;B;B	0.33694	0.024;0.421;0.297	B;B;B	0.29598	0.067;0.104;0.048	T	0.52480	-0.8570	10	0.66056	D	0.02	-4.4399	15.8304	0.78745	0.1372:0.8628:0.0:0.0	.	1326;1326;1573	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	Q	1326;1573;1833;746;2071;1166	ENSP00000441972:P1326Q;ENSP00000313059:P1573Q;ENSP00000444465:P1833Q;ENSP00000433548:P2071Q;ENSP00000341292:P1166Q	ENSP00000252477:P746Q	P	+	2	0	WNK1	864949	0.993000	0.37304	0.966000	0.40874	0.264000	0.26372	3.794000	0.55492	1.397000	0.46682	0.655000	0.94253	CCA		0.493	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		234	406	1	0	7.40589e-125	1	7.8644e-125	234	406				
UGT2A1	10941	broad.mit.edu	37	4	70455168	70455168	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:70455168A>G	ENST00000503640.1	-	6	1561	c.1506T>C	c.(1504-1506)gcT>gcC	p.A502A	UGT2A2_ENST00000457664.2_Silent_p.A511A|UGT2A1_ENST00000502343.1_5'Flank|UGT2A1_ENST00000286604.4_Silent_p.A502A|UGT2A1_ENST00000514019.1_Silent_p.A668A|UGT2A1_ENST00000512704.1_Silent_p.A458A	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	502					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CCAAAAATATAGCCGTTGTCA	0.403																																						ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1504-1506)gcT>gcC		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus							93.0	93.0	93.0					4																	70455168		2203	4300	6503	SO:0001819	synonymous_variant	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70455168A>G	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1506T>C	4.37:g.70455168A>G						UGT2A1_ENST00000514019.1_Silent_p.A668A|UGT2A2_ENST00000457664.2_Silent_p.A511A|UGT2A1_ENST00000512704.1_Silent_p.A458A|UGT2A1_ENST00000286604.4_Silent_p.A502A	p.A502A	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			6	1561	-			502					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Silent	SNP	ENST00000503640.1	37	c.1506T>C	CCDS3529.1																																																																																				0.403	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		4	91	0	0	0	1	0	4	91				
TEX264	51368	broad.mit.edu	37	3	51708450	51708450	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:51708450C>T	ENST00000415259.1	+	2	1211	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	TEX264_ENST00000457573.1_Missense_Mutation_p.R44C|TEX264_ENST00000395057.1_Missense_Mutation_p.R44C|TEX264_ENST00000416589.1_Missense_Mutation_p.R44C|TEX264_ENST00000341333.5_Missense_Mutation_p.R44C			Q9Y6I9	TX264_HUMAN	testis expressed 264	44						extracellular vesicular exosome (GO:0070062)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		ACCCCCCATCCGCAACGTCAC	0.607																																						ENST00000415259.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7						c.(130-132)Cgc>Tgc		testis expressed 264							81.0	73.0	76.0					3																	51708450		2203	4300	6503	SO:0001583	missense	51368					extracellular region		g.chr3:51708450C>T	AF072733	CCDS2833.1, CCDS74945.1	3p21	2007-03-13	2007-03-13		ENSG00000164081	ENSG00000164081			30247	protein-coding gene	gene with protein product			"""testis expressed gene 264"", ""testis expressed sequence 264"""			12975309	Standard	NM_001243725		Approved	ZSIG11, FLJ13935	uc003dbm.4	Q9Y6I9	OTTHUMG00000156901	ENST00000415259.1:c.130C>T	3.37:g.51708450C>T	ENSP00000396628:p.Arg44Cys					TEX264_ENST00000395057.1_Missense_Mutation_p.R44C|TEX264_ENST00000341333.5_Missense_Mutation_p.R44C|TEX264_ENST00000416589.1_Missense_Mutation_p.R44C|TEX264_ENST00000457573.1_Missense_Mutation_p.R44C	p.R44C			Q9Y6I9	TX264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)	2	1211	+			44					B3KN87|Q9UKD7	Missense_Mutation	SNP	ENST00000415259.1	37	c.130C>T	CCDS2833.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754879	0.69648	.	.	ENSG00000164081	ENST00000419358;ENST00000457573;ENST00000341333;ENST00000412249;ENST00000425781;ENST00000415259;ENST00000395057;ENST00000416589;ENST00000457927;ENST00000444233	T;T;T;T;T;T;T;T;T;T	0.02656	4.21;4.21;4.21;4.21;4.21;4.21;4.21;4.21;4.21;4.21	5.46	4.59	0.56863	.	0.485335	0.23076	N	0.052217	T	0.04452	0.0122	L	0.60455	1.87	0.51482	D	0.999921	B;B	0.24368	0.102;0.01	B;B	0.20955	0.032;0.004	T	0.25047	-1.0143	10	0.72032	D	0.01	.	9.6042	0.39624	0.0:0.7663:0.1534:0.0803	.	44;44	Q53GI2;Q9Y6I9	.;TX264_HUMAN	C	44	ENSP00000408989:R44C;ENSP00000408186:R44C;ENSP00000340969:R44C;ENSP00000393736:R44C;ENSP00000405783:R44C;ENSP00000396628:R44C;ENSP00000378497:R44C;ENSP00000398802:R44C;ENSP00000407151:R44C;ENSP00000415957:R44C	ENSP00000340969:R44C	R	+	1	0	TEX264	51683490	0.974000	0.33945	1.000000	0.80357	0.929000	0.56500	0.399000	0.20916	1.309000	0.44985	0.555000	0.69702	CGC		0.607	TEX264-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346530.1	NM_015926		26	102	0	0	0	1	0	26	102				
AREL1	9870	broad.mit.edu	37	14	75142422	75142422	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:75142422A>G	ENST00000356357.4	-	8	1575	c.1060T>C	c.(1060-1062)Tac>Cac	p.Y354H	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	354					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ACATAGCAGTACACCTTCTTC	0.507																																						ENST00000356357.4																			0											c.(1060-1062)Tac>Cac		apoptosis resistant E3 ubiquitin protein ligase 1							297.0	296.0	297.0					14																	75142422		2013	4193	6206	SO:0001583	missense	9870							g.chr14:75142422A>G	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1060T>C	14.37:g.75142422A>G	ENSP00000348714:p.Tyr354His					AREL1_ENST00000557401.1_5'UTR	p.Y354H	NM_001039479.1	NP_001034568.1					8	1575	-								B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	ENST00000356357.4	37	c.1060T>C	CCDS41971.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.838252	0.71373	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.50548	0.74;0.74	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	L	0.58101	1.795	0.80722	D	1	D;P	0.76494	0.999;0.777	D;B	0.80764	0.994;0.275	T	0.64744	-0.6335	10	0.45353	T	0.12	.	16.3593	0.83251	1.0:0.0:0.0:0.0	.	354;354	O15033-2;O15033	.;K0317_HUMAN	H	354;193;193	ENSP00000348714:Y354H;ENSP00000452101:Y193H	ENSP00000348714:Y354H	Y	-	1	0	KIAA0317	74212175	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.062000	0.93920	2.267000	0.75376	0.383000	0.25322	TAC		0.507	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	NM_014821		33	690	0	0	0	1	0	33	690				
POGLUT1	56983	broad.mit.edu	37	3	119205681	119205681	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:119205681A>G	ENST00000295588.4	+	7	724	c.640A>G	c.(640-642)Aca>Gca	p.T214A		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	214					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						CTTTTATAGGACAAGTCCAGA	0.423																																						ENST00000295588.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						c.e7-1		protein O-glucosyltransferase 1							167.0	167.0	167.0					3																	119205681		2203	4300	6503	SO:0001630	splice_region_variant	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119205681A>G	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.639-1A>G	3.37:g.119205681A>G							p.T214_splice	NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN			7	724	+			214					B2RD13|Q53GJ4|Q8N2T1	Splice_Site	SNP	ENST00000295588.4	37	c.638_splice	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470345	0.84533	.	.	ENSG00000163389	ENST00000295588	T	0.22134	1.97	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.44705	0.1306	M	0.85041	2.73	0.58432	D	0.999999	P	0.51791	0.948	P	0.60286	0.872	T	0.42258	-0.9462	10	0.40728	T	0.16	-15.7387	11.3542	0.49607	1.0:0.0:0.0:0.0	.	214	Q8NBL1	PGLT1_HUMAN	A	214	ENSP00000295588:T214A	ENSP00000295588:T214A	T	+	1	0	POGLUT1	120688371	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.723000	0.91458	2.243000	0.73865	0.482000	0.46254	ACA		0.423	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305	Missense_Mutation	4	221	0	0	0	1	0	4	221				
MTCL1	23255	broad.mit.edu	37	18	8720430	8720430	+	Missense_Mutation	SNP	A	A	G	rs115239581	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:8720430A>G	ENST00000306329.11	+	3	1373	c.1373A>G	c.(1372-1374)cAg>cGg	p.Q458R	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.Q98R|Y_RNA_ENST00000516510.1_RNA|SOGA2_ENST00000400050.3_Missense_Mutation_p.Q98R|SOGA2_ENST00000359865.3_Missense_Mutation_p.Q98R																							ACTCTCCGACAGCAGATGATT	0.488													A|||	3	0.000599042	0.0	0.0	5008	,	,		18540	0.003		0.0	False		,,,				2504	0.0					ENST00000359865.3																			0											c.(292-294)cAg>cGg		SOGA family member 2		A	ARG/GLN	0,4406		0,0,2203	92.0	82.0	85.0		293	5.2	1.0	18	dbSNP_132	85	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CCDC165	NM_015210.3	43	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	possibly-damaging	98/1587	8720430	2,13004	2203	4300	6503	SO:0001583	missense	23255							g.chr18:8720430A>G																												ENST00000306329.11:c.1373A>G	18.37:g.8720430A>G	ENSP00000305027:p.Gln458Arg					SOGA2_ENST00000400050.3_Missense_Mutation_p.Q98R|SOGA2_ENST00000306329.11_Missense_Mutation_p.Q458R|SOGA2_ENST00000517570.1_Missense_Mutation_p.Q98R|SOGA2_ENST00000306285.7_5'UTR	p.Q98R	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			4	435	+			449						Missense_Mutation	SNP	ENST00000306329.11	37	c.293A>G		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	23.4	4.413374	0.83449	0.0	2.33E-4	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.76839	-1.05;-1.05;-1.05	5.17	5.17	0.71159	.	0.000000	0.43747	D	0.000533	D	0.88134	0.6355	M	0.79805	2.47	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.89198	0.3555	10	0.54805	T	0.06	-41.2374	15.3134	0.74053	1.0:0.0:0.0:0.0	.	98	Q9Y4B5-3	.	R	119;98;98;98	ENSP00000429556:Q98R;ENSP00000352927:Q98R;ENSP00000382924:Q98R	ENSP00000305027:Q119R	Q	+	2	0	CCDC165	8710430	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.256000	0.78350	2.085000	0.62840	0.528000	0.53228	CAG		0.488	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			10	86	0	0	0	1	0	10	86				
CNST	163882	broad.mit.edu	37	1	246784753	246784753	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:246784753A>G	ENST00000366513.4	+	3	671	c.402A>G	c.(400-402)gcA>gcG	p.A134A	CNST_ENST00000366512.3_Silent_p.A134A|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	134					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GAGATATTGCACCTTTAATGC	0.373																																						ENST00000366513.4																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						c.(400-402)gcA>gcG		consortin, connexin sorting protein							185.0	194.0	191.0					1																	246784753		2203	4300	6503	SO:0001819	synonymous_variant	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246784753A>G	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.402A>G	1.37:g.246784753A>G						CNST_ENST00000366512.3_Silent_p.A134A|CNST_ENST00000483271.1_3'UTR	p.A134A	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN			3	671	+			134					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Silent	SNP	ENST00000366513.4	37	c.402A>G	CCDS1628.1																																																																																				0.373	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		81	224	0	0	0	1	0	81	224				
FAM83H	286077	broad.mit.edu	37	8	144810789	144810789	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:144810789G>A	ENST00000388913.3	-	5	967	c.842C>T	c.(841-843)tCc>tTc	p.S281F		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	281					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAGCGGCTCGGACTGCGCGAA	0.682																																						ENST00000388913.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(841-843)tCc>tTc		family with sequence similarity 83, member H							15.0	19.0	18.0					8																	144810789		2059	4190	6249	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144810789G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.842C>T	8.37:g.144810789G>A	ENSP00000373565:p.Ser281Phe						p.S281F	NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	967	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		281					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.842C>T	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	g	25.1	4.599631	0.87055	.	.	ENSG00000180921	ENST00000388913	T	0.29655	1.56	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000001	T	0.62024	0.2394	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70572	-0.4835	10	0.87932	D	0	.	17.0716	0.86576	0.0:0.0:1.0:0.0	.	281	Q6ZRV2	FA83H_HUMAN	F	281	ENSP00000373565:S281F	ENSP00000373565:S281F	S	-	2	0	FAM83H	144882777	1.000000	0.71417	0.954000	0.39281	0.968000	0.65278	7.745000	0.85046	2.326000	0.78906	0.561000	0.74099	TCC		0.682	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488		10	45	0	0	0	1	0	10	45				
AFG3L2	10939	broad.mit.edu	37	18	12340360	12340360	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:12340360T>C	ENST00000269143.3	-	15	2051	c.1820A>G	c.(1819-1821)cAg>cGg	p.Q607R		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	607					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TGGTAAATACTGAGCATAACC	0.403																																						ENST00000269143.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(1819-1821)cAg>cGg		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						155.0	137.0	143.0					18																	12340360		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12340360T>C	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1820A>G	18.37:g.12340360T>C	ENSP00000269143:p.Gln607Arg						p.Q607R	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			15	2051	-			607					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.1820A>G	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.788801	0.90367	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.85556	-2.0	5.65	5.65	0.86999	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.93032	0.7782	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94029	0.7299	10	0.87932	D	0	.	16.17	0.81801	0.0:0.0:0.0:1.0	.	607	Q9Y4W6	AFG32_HUMAN	R	607;622	ENSP00000269143:Q607R	ENSP00000269143:Q607R	Q	-	2	0	AFG3L2	12330360	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.997000	0.88414	2.279000	0.76181	0.533000	0.62120	CAG		0.403	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		12	134	0	0	0	1	0	12	134				
IQGAP3	128239	broad.mit.edu	37	1	156513971	156513971	+	Silent	SNP	C	C	T	rs200820791		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:156513971C>T	ENST00000361170.2	-	21	2443	c.2433G>A	c.(2431-2433)ctG>ctA	p.L811L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	811	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCAGACGCCTCAGGTATTGCC	0.587																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(2431-2433)ctG>ctA		IQ motif containing GTPase activating protein 3							126.0	111.0	116.0					1																	156513971		2203	4300	6503	SO:0001819	synonymous_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156513971C>T	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2433G>A	1.37:g.156513971C>T							p.L811L	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			21	2443	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		811			IQ 3.		Q5T3H8	Silent	SNP	ENST00000361170.2	37	c.2433G>A	CCDS1144.1																																																																																				0.587	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		56	136	0	0	0	1	0	56	136				
TXNRD2	10587	broad.mit.edu	37	22	19864630	19864630	+	Nonstop_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:19864630A>G	ENST00000400521.1	-	17	1579	c.1573T>C	c.(1573-1575)Taa>Caa	p.*525Q	TXNRD2_ENST00000542719.1_3'UTR|TXNRD2_ENST00000535882.1_3'UTR|TXNRD2_ENST00000400518.1_Nonstop_Mutation_p.*495Q|TXNRD2_ENST00000400519.1_Nonstop_Mutation_p.*524Q	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	0					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GATGGCGCTTACCCTCAGCAG	0.662																																						ENST00000400519.1																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30						c.(1570-1572)Taa>Caa		thioredoxin reductase 2							27.0	30.0	29.0					22																	19864630		2117	4222	6339	SO:0001578	stop_lost	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19864630A>G	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1573T>C	22.37:g.19864630A>G	ENSP00000383365:p.*525Gluext*?					TXNRD2_ENST00000400518.1_Nonstop_Mutation_p.*495Q|TXNRD2_ENST00000400525.1_Nonstop_Mutation_p.*502Q|TXNRD2_ENST00000535882.1_3'UTR|TXNRD2_ENST00000542719.1_3'UTR|TXNRD2_ENST00000400521.1_Nonstop_Mutation_p.*525Q	p.*524Q			Q9NNW7	TRXR2_HUMAN			17	1569	-	Colorectal(54;0.0993)		0					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Nonstop_Mutation	SNP	ENST00000400521.1	37	c.1570T>C	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.793751	0.50102	.	.	ENSG00000184470	ENST00000400518;ENST00000400521;ENST00000400525;ENST00000400519	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9175	0.58214	1.0:0.0:0.0:0.0	.	.	.	.	Q	495;525;502;524	.	.	X	-	1	0	TXNRD2	18244630	1.000000	0.71417	0.338000	0.25549	0.454000	0.32378	5.997000	0.70646	1.969000	0.57287	0.459000	0.35465	TAA		0.662	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		3	33	0	0	0	1	0	3	33				
ZNF92	168374	broad.mit.edu	37	7	64853808	64853808	+	Missense_Mutation	SNP	A	A	G	rs200506151		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:64853808A>G	ENST00000328747.7	+	3	419	c.220A>G	c.(220-222)Acc>Gcc	p.T74A	ZNF92_ENST00000450302.2_Missense_Mutation_p.T5A|ZNF92_ENST00000357512.2_Intron|ZNF92_ENST00000431504.1_Intron	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				GGTAGACAAAACCCCAGGTAG	0.438																																						ENST00000328747.7																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13						c.(220-222)Acc>Gcc		zinc finger protein 92							99.0	103.0	102.0					7																	64853808		2203	4300	6503	SO:0001583	missense	168374					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64853808A>G	M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"""Zinc fingers, C2H2-type"", ""-"""	13168	protein-coding gene	gene with protein product		603974	"""zinc finger protein 92 (HTF12)"""			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.220A>G	7.37:g.64853808A>G	ENSP00000332595:p.Thr74Ala					ZNF92_ENST00000450302.2_Missense_Mutation_p.T5A|ZNF92_ENST00000357512.2_Intron|ZNF92_ENST00000431504.1_Intron	p.T74A	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN			3	419	+		Lung NSC(55;0.159)	74			KRAB.		A6NNF9|Q8N492|Q8NB35	Missense_Mutation	SNP	ENST00000328747.7	37	c.220A>G	CCDS34646.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	6.938	0.542829	0.13250	.	.	ENSG00000146757	ENST00000328747;ENST00000450302	T;T	0.04970	3.6;3.52	0.593	-0.771	0.11002	Krueppel-associated box (1);	.	.	.	.	T	0.02929	0.0087	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.48399	-0.9039	9	0.15952	T	0.53	.	4.8208	0.13390	0.6361:0.3639:0.0:0.0	.	74	Q03936	ZNF92_HUMAN	A	74;5	ENSP00000332595:T74A;ENSP00000396126:T5A	ENSP00000332595:T74A	T	+	1	0	ZNF92	64491243	0.000000	0.05858	0.144000	0.22314	0.141000	0.21300	-0.902000	0.04088	-0.262000	0.09392	-0.261000	0.10672	ACC		0.438	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626		5	132	0	0	0	1	0	5	132				
KDM8	79831	broad.mit.edu	37	16	27221930	27221930	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:27221930A>G	ENST00000286096.4	+	2	659	c.486A>G	c.(484-486)caA>caG	p.Q162Q	KDM8_ENST00000380948.2_Silent_p.Q162Q|CTD-3203P2.1_ENST00000567108.1_RNA|KDM8_ENST00000568965.1_Silent_p.Q162Q|KDM8_ENST00000441782.2_Silent_p.Q200Q	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	162					G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)										TCCCAGAGCAACCCTGCACAA	0.582																																						ENST00000286096.4																			0											c.(484-486)caA>caG		lysine (K)-specific demethylase 8							21.0	22.0	21.0					16																	27221930		2190	4287	6477	SO:0001819	synonymous_variant	79831				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:27221930A>G	AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"""Chromatin-modifying enzymes / K-demethylases"""	25840	protein-coding gene	gene with protein product		611917	"""jumonji domain containing 5"""	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.486A>G	16.37:g.27221930A>G						KDM8_ENST00000380948.2_Silent_p.Q162Q|KDM8_ENST00000441782.2_Silent_p.Q200Q|KDM8_ENST00000568965.1_Silent_p.Q162Q	p.Q162Q	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN			2	659	+			162					B4DLU9|Q6VAK5|Q9H8B1	Silent	SNP	ENST00000286096.4	37	c.486A>G	CCDS10627.1																																																																																				0.582	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254580.3	NM_024773		10	46	0	0	0	1	0	10	46				
DNAH1	25981	broad.mit.edu	37	3	52425582	52425582	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52425582A>G	ENST00000420323.2	+	63	10276	c.10015A>G	c.(10015-10017)Acc>Gcc	p.T3339A		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3404	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGAGATCTCCACCAAACTCAC	0.607																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(10015-10017)Acc>Gcc		dynein, axonemal, heavy chain 1							220.0	262.0	248.0					3																	52425582		2178	4281	6459	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52425582A>G	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.10015A>G	3.37:g.52425582A>G	ENSP00000401514:p.Thr3339Ala						p.T3339A	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	63	10276	+			3404			AAA 5 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.10015A>G	CCDS46842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.42|12.42	1.931720|1.931720	0.34096|0.34096	.|.	.|.	ENSG00000114841|ENSG00000114841	ENST00000480649|ENST00000420323;ENST00000273600	.|T	.|0.14391	.|2.51	4.57|4.57	4.57|4.57	0.56435|0.56435	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.08670|0.08670	0.0215|0.0215	N|N	0.10664|0.10664	0.02|0.02	0.52099|0.52099	D|D	0.999946|0.999946	.|B;P	.|0.40970	.|0.044;0.734	.|B;B	.|0.39531	.|0.058;0.302	T|T	0.29027|0.29027	-1.0025|-1.0025	5|10	.|0.54805	.|T	.|0.06	.|.	14.109|14.109	0.65111|0.65111	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|3339;3404	.|C9JXH6;Q9P2D7-2	.|.;.	R|A	150|3339;92	.|ENSP00000401514:T3339A	.|ENSP00000273600:T92A	H|T	+|+	2|1	0|0	DNAH1|DNAH1	52400622|52400622	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.717000|0.717000	0.41224|0.41224	4.805000|4.805000	0.62561|0.62561	1.931000|1.931000	0.55961|0.55961	0.533000|0.533000	0.62120|0.62120	CAC|ACC		0.607	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		21	49	0	0	0	1	0	21	49				
FMNL1	752	broad.mit.edu	37	17	43322408	43322408	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:43322408T>C	ENST00000331495.3	+	21	2997	c.2661T>C	c.(2659-2661)atT>atC	p.I887I	MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|CTD-2020K17.4_ENST00000591361.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|FMNL1_ENST00000587489.1_Silent_p.I465I|FMNL1_ENST00000328118.3_Silent_p.I887I|CTD-2020K17.4_ENST00000420431.2_RNA|CTD-2020K17.4_ENST00000589518.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	887	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGAAGGTCATTGCTGAGAAGT	0.577																																					GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.(2659-2661)atT>atC		formin-like 1							91.0	83.0	86.0					17																	43322408		2203	4300	6503	SO:0001819	synonymous_variant	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43322408T>C	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2661T>C	17.37:g.43322408T>C						FMNL1_ENST00000328118.3_Silent_p.I887I|FMNL1_ENST00000587489.1_Silent_p.I465I	p.I887I	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN			21	2997	+			887			FH2.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	ENST00000331495.3	37	c.2661T>C	CCDS11497.1																																																																																				0.577	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		8	103	0	0	0	1	0	8	103				
RBM4B	83759	broad.mit.edu	37	11	66436573	66436573	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:66436573T>C	ENST00000525754.1	-	2	1270	c.602A>G	c.(601-603)tAc>tGc	p.Y201C	RBM4B_ENST00000529195.2_5'Flank|RP11-658F2.8_ENST00000550837.1_RNA|RBM4B_ENST00000524637.1_3'UTR|RBM4B_ENST00000310046.4_Missense_Mutation_p.Y201C|RP11-658F2.8_ENST00000548810.1_RNA|RBM4B_ENST00000531969.1_Intron			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	201	Interaction with TNPO3. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						GCCCATGGTGTAAGGTGTTCG	0.502																																						ENST00000525754.1																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						c.(601-603)tAc>tGc		RNA binding motif protein 4B							123.0	114.0	117.0					11																	66436573		2200	4295	6495	SO:0001583	missense	83759				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding	g.chr11:66436573T>C	AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	28842	protein-coding gene	gene with protein product			"""RNA binding motif protein 30"""	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.602A>G	11.37:g.66436573T>C	ENSP00000433071:p.Tyr201Cys					RBM4B_ENST00000524637.1_3'UTR|RBM4B_ENST00000310046.4_Missense_Mutation_p.Y201C|RBM4B_ENST00000531969.1_Intron	p.Y201C			Q9BQ04	RBM4B_HUMAN			2	1270	-			201			Interaction with TNPO3 (By similarity).		B3KT83	Missense_Mutation	SNP	ENST00000525754.1	37	c.602A>G	CCDS8149.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.528669	0.64860	.	.	ENSG00000173914	ENST00000525754;ENST00000310046	T;T	0.26810	1.71;1.71	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	P	0.58928	0.848	T	0.09574	-1.0668	10	0.44086	T	0.13	.	15.7887	0.78332	0.0:0.0:0.0:1.0	.	201	Q9BQ04	RBM4B_HUMAN	C	201	ENSP00000433071:Y201C;ENSP00000310471:Y201C	ENSP00000310471:Y201C	Y	-	2	0	RBM4B	66193149	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.645000	0.54389	2.367000	0.80283	0.528000	0.53228	TAC		0.502	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1	NM_031492		4	84	0	0	0	1	0	4	84				
MIB1	57534	broad.mit.edu	37	18	19359503	19359503	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:19359503T>C	ENST00000261537.6	+	6	1029	c.765T>C	c.(763-765)gaT>gaC	p.D255D	MIB1_ENST00000578646.1_3'UTR|AC091038.1_ENST00000582102.1_RNA	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	255					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TAAATATAGATCTCGACCTCG	0.418																																						ENST00000261537.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(763-765)gaT>gaC		mindbomb E3 ubiquitin protein ligase 1							237.0	220.0	226.0					18																	19359503		2203	4300	6503	SO:0001819	synonymous_variant	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19359503T>C	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.765T>C	18.37:g.19359503T>C						MIB1_ENST00000578646.1_3'UTR	p.D255D	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		6	1029	+			255					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Silent	SNP	ENST00000261537.6	37	c.765T>C	CCDS11871.1																																																																																				0.418	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		4	196	0	0	0	1	0	4	196				
MSH6	2956	broad.mit.edu	37	2	48026783	48026783	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:48026783G>A	ENST00000234420.5	+	4	1813	c.1661G>A	c.(1660-1662)cGt>cAt	p.R554H	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.R252H|MSH6_ENST00000540021.1_Missense_Mutation_p.R424H	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	554					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGCCATACTCGTGCATATGGT	0.423			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(1660-1662)cGt>cAt	Mismatch excision repair (MMR)	mutS homolog 6							169.0	169.0	169.0					2																	48026783		2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026783G>A	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1661G>A	2.37:g.48026783G>A	ENSP00000234420:p.Arg554His					MSH6_ENST00000538136.1_Missense_Mutation_p.R252H|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.R424H	p.R554H	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1813	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	554					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.1661G>A	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	1.600	-0.526756	0.04141	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.88818	-2.43;-2.43;-2.43	5.34	1.54	0.23209	DNA mismatch repair protein MutS, connector (1);	0.182461	0.47852	D	0.000214	D	0.82999	0.5159	L	0.31476	0.935	0.21147	N	0.999773	B;P;D	0.54772	0.078;0.589;0.968	B;B;P	0.49683	0.038;0.092;0.619	T	0.74244	-0.3728	10	0.13108	T	0.6	-5.4338	9.9045	0.41368	0.3398:0.0:0.6602:0.0	.	424;554;554	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	H	554;552;424;252	ENSP00000234420:R554H;ENSP00000446475:R424H;ENSP00000438580:R252H	ENSP00000234420:R554H	R	+	2	0	MSH6	47880287	1.000000	0.71417	0.007000	0.13788	0.292000	0.27327	4.552000	0.60747	0.275000	0.22094	-0.142000	0.14014	CGT		0.423	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		46	93	0	0	0	1	0	46	93				
GRIA1	2890	broad.mit.edu	37	5	153085393	153085393	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:153085393C>T	ENST00000285900.5	+	11	1932	c.1589C>T	c.(1588-1590)tCc>tTc	p.S530F	GRIA1_ENST00000518142.1_Missense_Mutation_p.S450F|GRIA1_ENST00000340592.5_Missense_Mutation_p.S530F|GRIA1_ENST00000518783.1_Missense_Mutation_p.S540F|GRIA1_ENST00000521843.2_Missense_Mutation_p.S461F|GRIA1_ENST00000448073.4_Missense_Mutation_p.S540F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	530					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GGTGTCTTCTCCTTCCTTGAT	0.438																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1588-1590)tCc>tTc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						199.0	189.0	192.0					5																	153085393		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153085393C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1589C>T	5.37:g.153085393C>T	ENSP00000285900:p.Ser530Phe					GRIA1_ENST00000521843.2_Missense_Mutation_p.S461F|GRIA1_ENST00000518783.1_Missense_Mutation_p.S540F|GRIA1_ENST00000448073.4_Missense_Mutation_p.S540F|GRIA1_ENST00000340592.5_Missense_Mutation_p.S530F|GRIA1_ENST00000518142.1_Missense_Mutation_p.S450F	p.S530F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		11	1932	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	530					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1589C>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473822	0.84640	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.16324	2.4;2.37;2.4;2.35;2.36;2.39;2.39	5.06	5.06	0.68205	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.53270	0.1786	M	0.93062	3.375	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.978	D;D;D;D;D;P	0.91635	0.999;0.997;0.997;0.999;0.999;0.701	T	0.66031	-0.6024	10	0.87932	D	0	.	17.7763	0.88510	0.0:1.0:0.0:0.0	.	540;540;450;540;530;530	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	F	530;530;450;484;530;461;461;540;540	ENSP00000285900:S530F;ENSP00000427920:S450F;ENSP00000339343:S530F;ENSP00000427864:S461F;ENSP00000442108:S461F;ENSP00000428994:S540F;ENSP00000415569:S540F	ENSP00000285900:S530F	S	+	2	0	GRIA1	153065586	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.600000	0.82769	2.497000	0.84241	0.655000	0.94253	TCC		0.438	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			49	134	0	0	0	1	0	49	134				
MUC3A	4584	broad.mit.edu	37	7	100609603	100609603	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100609603G>C	ENST00000319509.7	+	8	2335	c.2335G>C	c.(2335-2337)Gcg>Ccg	p.A779P	RP11-395B7.2_ENST00000420080.1_RNA|RP11-395B7.2_ENST00000434775.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2444	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CCACTGGAGGGCGCTGGTCGG	0.741																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(2335-2337)Gcg>Ccg		mucin 3A, cell surface associated							10.0	10.0	10.0					7																	100609603		873	1988	2861	SO:0001583	missense	4584							g.chr7:100609603G>C	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.2335G>C	7.37:g.100609603G>C	ENSP00000324834:p.Ala779Pro					RP11-395B7.2_ENST00000420080.1_RNA	p.A779P							8	2335	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Missense_Mutation	SNP	ENST00000319509.7	37	c.2335G>C		.	.	.	.	.	.	.	.	.	.	g	15.63	2.889036	0.52014	.	.	ENSG00000169894	ENST00000319509	T	0.07688	3.17	2.82	2.82	0.32997	.	.	.	.	.	T	0.23171	0.0560	M	0.73217	2.22	0.20764	N	0.999857	D	0.69078	0.997	D	0.72982	0.979	T	0.22695	-1.0209	8	0.38643	T	0.18	.	9.7163	0.40276	0.0:0.0:1.0:0.0	.	2444	Q02505	MUC3A_HUMAN	P	779	ENSP00000324834:A779P	ENSP00000324834:A779P	A	+	1	0	MUC3A	100396323	0.993000	0.37304	0.993000	0.49108	0.120000	0.20174	1.704000	0.37857	1.508000	0.48769	0.457000	0.33378	GCG		0.741	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		3	14	0	0	0	1	0	3	14				
ZNF385D	79750	broad.mit.edu	37	3	21478595	21478595	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:21478595G>A	ENST00000281523.2	-	5	1058	c.540C>T	c.(538-540)agC>agT	p.S180S	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	180	Thr-rich.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTGTCGTTGGGCTTTTTTCCA	0.473																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(538-540)agC>agT		zinc finger protein 385D							175.0	156.0	162.0					3																	21478595		2203	4300	6503	SO:0001819	synonymous_variant	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21478595G>A	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.540C>T	3.37:g.21478595G>A						ZNF385D_ENST00000494118.1_5'UTR	p.S180S	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			5	1058	-			180			Thr-rich.			Silent	SNP	ENST00000281523.2	37	c.540C>T	CCDS2636.1																																																																																				0.473	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		26	121	0	0	0	1	0	26	121				
CIR1	9541	broad.mit.edu	37	2	175213789	175213789	+	Silent	SNP	G	G	A	rs541260443		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:175213789G>A	ENST00000342016.3	-	10	881	c.789C>T	c.(787-789)tcC>tcT	p.S263S	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	263	Lys/Ser-rich.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						aggaggaggaggaagatgagg	0.338																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(787-789)tcC>tcT		corepressor interacting with RBPJ, 1							20.0	19.0	19.0					2																	175213789		2199	4299	6498	SO:0001819	synonymous_variant	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175213789G>A	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.789C>T	2.37:g.175213789G>A						CIR1_ENST00000362053.5_3'UTR	p.S263S	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			10	881	-			263			Lys/Ser-rich.		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Silent	SNP	ENST00000342016.3	37	c.789C>T	CCDS2256.1																																																																																				0.338	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		4	14	0	0	0	1	0	4	14				
ANKIB1	54467	broad.mit.edu	37	7	91948721	91948721	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:91948721A>G	ENST00000265742.3	+	4	940	c.564A>G	c.(562-564)caA>caG	p.Q188Q		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	188							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGAAAAGCAACACCACAAAG	0.368																																						ENST00000265742.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41						c.(562-564)caA>caG		ankyrin repeat and IBR domain containing 1							77.0	75.0	76.0					7																	91948721		1842	4082	5924	SO:0001819	synonymous_variant	54467						protein binding|zinc ion binding	g.chr7:91948721A>G	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.564A>G	7.37:g.91948721A>G							p.Q188Q	NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		4	940	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		188					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Silent	SNP	ENST00000265742.3	37	c.564A>G	CCDS47639.1																																																																																				0.368	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			3	75	0	0	0	1	0	3	75				
MBNL3	55796	broad.mit.edu	37	X	131526279	131526279	+	Silent	SNP	G	G	A	rs181361335		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:131526279G>A	ENST00000370853.3	-	3	504	c.426C>T	c.(424-426)ctC>ctT	p.L142L	RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000370849.3_Silent_p.L92L|MBNL3_ENST00000370839.3_Silent_p.L142L|MBNL3_ENST00000370844.1_Silent_p.L46L|RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000538204.1_Silent_p.L92L|MBNL3_ENST00000394311.2_Silent_p.L46L|MBNL3_ENST00000370857.3_Silent_p.L142L|MBNL3_ENST00000473364.1_5'UTR	NM_018388.3	NP_060858.2	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	142	Pro-rich.				mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|negative regulation of myoblast differentiation (GO:0045662)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					CTGCAGGAACGAGGCCCATCC	0.463													G|||	6	0.0015894	0.0	0.0043	3775	,	,		12715	0.003		0.0	False		,,,				2504	0.0					ENST00000538204.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16						c.(274-276)ctC>ctT		muscleblind-like splicing regulator 3							129.0	113.0	118.0					X																	131526279		2203	4300	6503	SO:0001819	synonymous_variant	55796				mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding	g.chrX:131526279G>A	AF491305	CCDS14633.1, CCDS14634.1, CCDS55492.1, CCDS55493.1, CCDS55494.1	Xq26.2	2013-01-18	2012-02-23		ENSG00000076770	ENSG00000076770		"""Zinc fingers, CCCH-type domain containing"""	20564	protein-coding gene	gene with protein product		300413	"""muscleblind-like 3 (Drosophila)"""			12297108, 10970838	Standard	NM_018388		Approved	CHCR, FLJ11316, MBLX39, MBXL	uc004ewv.4	Q9NUK0	OTTHUMG00000022426	ENST00000370853.3:c.426C>T	X.37:g.131526279G>A						MBNL3_ENST00000370844.1_Silent_p.L46L|MBNL3_ENST00000394311.2_Silent_p.L46L|MBNL3_ENST00000370857.3_Silent_p.L142L|RP5-842K24.2_ENST00000421483.1_RNA|MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000370839.3_Silent_p.L142L|MBNL3_ENST00000370849.3_Silent_p.L92L|RP5-842K24.2_ENST00000441399.1_RNA|MBNL3_ENST00000370853.3_Silent_p.L142L	p.L92L	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN			3	341	-	Acute lymphoblastic leukemia(192;0.000127)		142					Q5JXN8|Q5JXN9|Q5JXP4|Q6UDQ1|Q8IUR4|Q8TAD9|Q8TAF4|Q9H0Z7|Q9UF37	Silent	SNP	ENST00000370853.3	37	c.276C>T	CCDS14633.1																																																																																				0.463	MBNL3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058319.1	NM_018388		28	29	0	0	0	1	0	28	29				
NEURL1	9148	broad.mit.edu	37	10	105330708	105330708	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:105330708C>T	ENST00000369780.4	+	2	574	c.165C>T	c.(163-165)agC>agT	p.S55S	NEURL_ENST00000369777.2_Silent_p.S38S	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		55					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S55S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TGCTGCCCAGCGGGGGGCTCC	0.652																																						ENST00000369780.4																			1	Substitution - coding silent(1)	p.S55S(1)	upper_aerodigestive_tract(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(163-165)agC>agT									77.0	89.0	85.0					10																	105330708		2203	4300	6503	SO:0001819	synonymous_variant	9148				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105330708C>T																												ENST00000369780.4:c.165C>T	10.37:g.105330708C>T						NEURL_ENST00000369777.2_Silent_p.S38S	p.S55S	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	2	574	+			55					Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	ENST00000369780.4	37	c.165C>T	CCDS7551.1																																																																																				0.652	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			74	234	0	0	0	1	0	74	234				
PCDHB6	56130	broad.mit.edu	37	5	140531261	140531261	+	Missense_Mutation	SNP	G	G	A	rs17844436		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140531261G>A	ENST00000231136.1	+	1	1423	c.1423G>A	c.(1423-1425)Gac>Aac	p.D475N	PCDHB6_ENST00000543635.1_Missense_Mutation_p.D339N	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	475	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCGCCACAGACAGAGACTC	0.637																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1423-1425)Gac>Aac									99.0	109.0	105.0					5																	140531261		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531261G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1423G>A	5.37:g.140531261G>A	ENSP00000231136:p.Asp475Asn					PCDHB6_ENST00000543635.1_Missense_Mutation_p.D339N	p.D475N	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1423	+			475			Cadherin 5.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.1423G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355560	0.82243	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.74526	-0.85;-0.85	4.18	4.18	0.49190	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.91620	0.7352	H	0.99197	4.465	0.41153	D	0.986043	D	0.89917	1.0	D	0.97110	1.0	D	0.94699	0.7881	9	0.87932	D	0	.	13.5425	0.61684	0.0:0.0:0.8438:0.1562	rs17844436	475	Q9Y5E3	PCDB6_HUMAN	N	339;475;260	ENSP00000438466:D339N;ENSP00000231136:D475N	ENSP00000231136:D475N	D	+	1	0	PCDHB6	140511445	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	6.585000	0.74062	2.046000	0.60703	0.485000	0.47835	GAC		0.637	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		30	333	0	0	0	1	0	30	333				
HNRNPH1	3187	broad.mit.edu	37	5	179044053	179044053	+	Splice_Site	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:179044053G>A	ENST00000356731.5	-	9	2651	c.1116C>T	c.(1114-1116)taC>taT	p.Y372Y	HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372Y|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372Y|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372Y|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	372	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TTTGGCTACCGTAAGCACCAC	0.373																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.e9+1		heterogeneous nuclear ribonucleoprotein H1 (H)							105.0	102.0	103.0					5																	179044053		2203	4300	6503	SO:0001630	splice_region_variant	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179044053G>A	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1117+1C>T	5.37:g.179044053G>A						HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372_splice	p.Y372_splice			P31943	HNRH1_HUMAN			9	2651	-			372			2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.		B3KW86|D3DWQ2|Q6IBM4	Splice_Site	SNP	ENST00000356731.5	37	c.1117_splice	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	g	12.51	1.960606	0.34565	.	.	ENSG00000169045	ENST00000521173	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	T	0.58750	0.2144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57271	-0.7840	4	.	.	.	-9.1144	8.0021	0.30304	0.192:0.0:0.808:0.0	.	.	.	.	M	247	.	.	T	-	2	0	HNRNPH1	178976659	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.877000	0.28106	2.730000	0.93505	0.644000	0.83932	ACG		0.373	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520	Silent	4	128	0	0	0	1	0	4	128				
KCTD11	147040	broad.mit.edu	37	17	7256424	7256424	+	Missense_Mutation	SNP	G	G	T	rs373184206		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:7256424G>T	ENST00000333751.3	+	1	1217	c.163G>T	c.(163-165)Gcg>Tcg	p.A55S	RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000389982.4_5'Flank|TMEM95_ENST00000330767.4_5'Flank|TMEM95_ENST00000576060.1_5'Flank	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	55					cell cycle (GO:0007049)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)				kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CGGAGAGACAGCGCTGCTCAG	0.667																																						ENST00000333751.3																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(163-165)Gcg>Tcg		potassium channel tetramerization domain containing 11							26.0	26.0	26.0					17																	7256424		2203	4300	6503	SO:0001583	missense	147040				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:7256424G>T	AK056227	CCDS32545.1	17p13.2	2013-06-20	2013-06-20	2003-11-26	ENSG00000213859	ENSG00000213859			21302	protein-coding gene	gene with protein product		609848	"""chromosome 17 open reading frame 36"", ""potassium channel tetramerisation domain containing 11"""	C17orf36		12186855, 21472142	Standard	NM_001002914		Approved	REN, KCASH1	uc002gge.4	Q693B1	OTTHUMG00000132061	ENST00000333751.3:c.163G>T	17.37:g.7256424G>T	ENSP00000328352:p.Ala55Ser					RP11-542C16.1_ENST00000572417.1_RNA	p.A55S	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN			1	1217	+		Prostate(122;0.157)	55					B3KPE0	Missense_Mutation	SNP	ENST00000333751.3	37	c.163G>T	CCDS32545.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245935	0.59103	.	.	ENSG00000213859	ENST00000333751	T	0.76186	-1.0	4.82	4.82	0.62117	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.146929	0.28694	U	0.014455	T	0.60170	0.2248	N	0.05467	-0.045	0.25193	N	0.990113	B	0.33883	0.43	B	0.41646	0.362	T	0.51252	-0.8729	10	0.15499	T	0.54	.	15.4352	0.75140	0.0:0.0:1.0:0.0	.	55	Q693B1	KCD11_HUMAN	S	55	ENSP00000328352:A55S	ENSP00000328352:A55S	A	+	1	0	KCTD11	7197148	0.091000	0.21658	0.429000	0.26710	0.868000	0.49771	2.471000	0.45127	2.504000	0.84457	0.563000	0.77884	GCG		0.667	KCTD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255084.2	NM_001002914		13	44	1	0	4.36969e-10	1	4.52622e-10	13	44				
MGAM	8972	broad.mit.edu	37	7	141736759	141736759	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:141736759C>T	ENST00000549489.2	+	18	2308	c.2213C>T	c.(2212-2214)gCc>gTc	p.A738V	MGAM_ENST00000475668.2_Missense_Mutation_p.A738V	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	738	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACACGGTGGCCAGGCCCCTT	0.443																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(2212-2214)gCc>gTc		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						185.0	186.0	186.0					7																	141736759		1971	4150	6121	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141736759C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2213C>T	7.37:g.141736759C>T	ENSP00000447378:p.Ala738Val					MGAM_ENST00000549489.2_Missense_Mutation_p.A738V	p.A738V			O43451	MGA_HUMAN			18	2267	+	Melanoma(164;0.0272)		738			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.2213C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320746	0.60634	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.90444	-2.67	5.81	5.81	0.92471	.	0.000000	0.53938	D	0.000058	T	0.78188	0.4244	N	0.10809	0.05	0.44603	D	0.99757	B	0.29671	0.254	B	0.26202	0.067	T	0.73965	-0.3816	10	0.15066	T	0.55	.	8.9984	0.36066	0.0:0.8436:0.0:0.1564	.	738	O43451	MGA_HUMAN	V	738;738;615	ENSP00000447378:A738V	ENSP00000316431:A615V	A	+	2	0	MGAM	141383228	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.999000	0.63934	2.763000	0.94921	0.650000	0.86243	GCC		0.443	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			64	219	0	0	0	1	0	64	219				
COL6A2	1292	broad.mit.edu	37	21	47552155	47552155	+	Missense_Mutation	SNP	G	G	A	rs145381639		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:47552155G>A	ENST00000300527.4	+	28	2853	c.2749G>A	c.(2749-2751)Gtg>Atg	p.V917M		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	917	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTTCTCGCACGTGGGCGCAGG	0.682																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2749-2751)Gtg>Atg		collagen, type VI, alpha 2		G	MET/VAL	1,4395		0,1,2197	21.0	22.0	22.0		2749	3.3	1.0	21	dbSNP_134	22	0,8598		0,0,4299	yes	missense	COL6A2	NM_001849.3	21	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	917/1020	47552155	1,12993	2198	4299	6497	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47552155G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2749G>A	21.37:g.47552155G>A	ENSP00000300527:p.Val917Met						p.V917M	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	2853	+	Breast(49;0.245)		917			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2749G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	9.872	1.199293	0.22121	2.27E-4	0.0	ENSG00000142173	ENST00000300527	D	0.83755	-1.76	4.18	3.28	0.37604	von Willebrand factor, type A (3);	0.322746	0.28376	U	0.015566	D	0.86138	0.5861	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.84704	0.0730	10	0.49607	T	0.09	-18.0919	4.4485	0.11609	0.2639:0.1812:0.5548:0.0	.	917	P12110	CO6A2_HUMAN	M	917	ENSP00000300527:V917M	ENSP00000300527:V917M	V	+	1	0	COL6A2	46376583	1.000000	0.71417	0.999000	0.59377	0.277000	0.26821	1.297000	0.33400	1.891000	0.54761	0.313000	0.20887	GTG		0.682	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			6	10	0	0	0	1	0	6	10				
TLX2	3196	broad.mit.edu	37	2	74742952	74742952	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:74742952A>G	ENST00000233638.7	+	2	916	c.593A>G	c.(592-594)gAc>gGc	p.D198G		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	198					enteric nervous system development (GO:0048484)|mesoderm formation (GO:0001707)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|ovary(1)	2						CGCATGACCGACGCACAGGTC	0.692																																					Esophageal Squamous(7;240 533 18610 24312)	ENST00000233638.7																			0				kidney(1)|ovary(1)	2						c.(592-594)gAc>gGc		T-cell leukemia homeobox 2							17.0	18.0	18.0					2																	74742952		2203	4294	6497	SO:0001583	missense	3196					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:74742952A>G	AJ002607	CCDS1947.1	2p13.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000115297	ENSG00000115297		"""Homeoboxes / ANTP class : NKL subclass"""	5057	protein-coding gene	gene with protein product		604240	"""homeo box 11-like 1"", ""T-cell leukemia, homeobox 2"""	HOX11L1		10343123	Standard	NM_016170		Approved	Enx, Tlx2, NCX	uc002sma.2	O43763	OTTHUMG00000129960	ENST00000233638.7:c.593A>G	2.37:g.74742952A>G	ENSP00000233638:p.Asp198Gly						p.D198G	NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN			2	916	+			198					Q9UD56|Q9UQ48	Missense_Mutation	SNP	ENST00000233638.7	37	c.593A>G	CCDS1947.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.364791	0.82463	.	.	ENSG00000115297	ENST00000233638	D	0.96200	-3.94	4.2	4.2	0.49525	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.53938	D	0.000051	D	0.97473	0.9173	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97854	1.0276	10	0.87932	D	0	.	11.2848	0.49216	1.0:0.0:0.0:0.0	.	198	O43763	TLX2_HUMAN	G	198	ENSP00000233638:D198G	ENSP00000233638:D198G	D	+	2	0	TLX2	74596460	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	5.111000	0.64628	1.754000	0.51921	0.533000	0.62120	GAC		0.692	TLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252224.3			10	39	0	0	0	1	0	10	39				
NAV3	89795	broad.mit.edu	37	12	78362385	78362385	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:78362385T>C	ENST00000397909.2	+	5	747	c.574T>C	c.(574-576)Tac>Cac	p.Y192H	NAV3_ENST00000536525.2_Missense_Mutation_p.Y192H|NAV3_ENST00000228327.6_Missense_Mutation_p.Y192H|NAV3_ENST00000266692.7_Missense_Mutation_p.Y192H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	192						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCAACAACAGTACTATCAGTC	0.448										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(574-576)Tac>Cac		neuron navigator 3							82.0	87.0	86.0					12																	78362385		1995	4161	6156	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78362385T>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.574T>C	12.37:g.78362385T>C	ENSP00000381007:p.Tyr192His	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.Y192H|NAV3_ENST00000228327.6_Missense_Mutation_p.Y192H|NAV3_ENST00000266692.7_Missense_Mutation_p.Y192H	p.Y192H			Q8IVL0	NAV3_HUMAN			5	747	+			192					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.574T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.05|17.05	3.289306|3.289306	0.59976|0.59976	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000550503|ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.|T;T;T;T;T	.|0.44482	.|0.92;0.92;0.92;0.92;0.92	5.6|5.6	5.6|5.6	0.85130|0.85130	.|Calponin homology domain (1);	.|0.000000	.|0.34986	.|U	.|0.003537	T|T	0.46268|0.46268	0.1384|0.1384	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.998;0.999	.|D;D	.|0.83275	.|0.972;0.996	T|T	0.40059|0.40059	-0.9583|-0.9583	5|10	.|0.18710	.|T	.|0.47	-13.1218|-13.1218	15.7842|15.7842	0.78289|0.78289	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|192;192	.|Q8IVL0;Q8IVL0-2	.|NAV3_HUMAN;.	A|H	38|192	.|ENSP00000446628:Y192H;ENSP00000446132:Y192H;ENSP00000381007:Y192H;ENSP00000228327:Y192H;ENSP00000266692:Y192H	.|ENSP00000228327:Y192H	V|Y	+|+	2|1	0|0	NAV3|NAV3	76886516|76886516	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.718000|0.718000	0.41266|0.41266	3.710000|3.710000	0.54860|0.54860	2.133000|2.133000	0.65898|0.65898	0.519000|0.519000	0.50382|0.50382	GTA|TAC		0.448	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		6	85	0	0	0	1	0	6	85				
ZNF777	27153	broad.mit.edu	37	7	149129494	149129494	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:149129494T>C	ENST00000247930.4	-	6	2192	c.1869A>G	c.(1867-1869)tcA>tcG	p.S623S		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	623					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CAGAGCTGGGTGACTTGGGAC	0.667																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(1867-1869)tcA>tcG		zinc finger protein 777							86.0	100.0	95.0					7																	149129494		2129	4249	6378	SO:0001819	synonymous_variant	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149129494T>C	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1869A>G	7.37:g.149129494T>C							p.S623S	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	2192	-	Melanoma(164;0.165)		623					Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	37	c.1869A>G	CCDS43675.1																																																																																				0.667	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		9	271	0	0	0	1	0	9	271				
KIAA0319L	79932	broad.mit.edu	37	1	35920007	35920007	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:35920007A>G	ENST00000325722.3	-	11	1970	c.1736T>C	c.(1735-1737)aTa>aCa	p.I579T	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.I16T	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	579	PKD 3. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGCTGTCCTATTGTGTCAGT	0.473																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(1735-1737)aTa>aCa		KIAA0319-like							196.0	154.0	168.0					1																	35920007		2203	4300	6503	SO:0001583	missense	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35920007A>G	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1736T>C	1.37:g.35920007A>G	ENSP00000318406:p.Ile579Thr					KIAA0319L_ENST00000373266.4_Missense_Mutation_p.I16T|KIAA0319L_ENST00000485551.1_5'UTR	p.I579T	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			11	1970	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	579			PKD 3.		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	ENST00000325722.3	37	c.1736T>C	CCDS390.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.189609	0.38707	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982;ENST00000440579	T;T;T;T	0.67698	2.58;2.58;2.58;-0.28	6.17	2.6	0.31112	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD domain (3);	0.446065	0.27253	N	0.020207	T	0.29914	0.0748	N	0.01048	-1.04	0.46542	D	0.99909	B;B;B	0.31625	0.332;0.062;0.029	B;B;B	0.26969	0.075;0.013;0.06	T	0.06625	-1.0816	10	0.32370	T	0.25	-0.0819	6.4682	0.21993	0.4597:0.0:0.5403:0.0	.	579;579;16	Q8IZA0-2;Q8IZA0;Q8IZA0-3	.;K319L_HUMAN;.	T	579;16;579;579	ENSP00000318406:I579T;ENSP00000362363:I16T;ENSP00000395883:I579T;ENSP00000407576:I579T	ENSP00000318406:I579T	I	-	2	0	KIAA0319L	35692594	0.978000	0.34361	0.428000	0.26697	0.999000	0.98932	4.706000	0.61845	0.559000	0.29153	0.533000	0.62120	ATA		0.473	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		20	63	0	0	0	1	0	20	63				
MRGPRX3	117195	broad.mit.edu	37	11	18159410	18159410	+	Missense_Mutation	SNP	A	A	G	rs574287314		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18159410A>G	ENST00000396275.2	+	3	1022	c.661A>G	c.(661-663)Aca>Gca	p.T221A		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CATCCTCCTCACAGTGCTGGT	0.552																																						ENST00000396275.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(661-663)Aca>Gca		MAS-related GPR, member X3							112.0	105.0	107.0					11																	18159410		2200	4293	6493	SO:0001583	missense	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159410A>G		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.661A>G	11.37:g.18159410A>G	ENSP00000379571:p.Thr221Ala						p.T221A	NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN			3	1022	+			221					B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	c.661A>G	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	a	12.59	1.982234	0.34942	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.37584	1.19;1.19	1.3	0.0319	0.14173	GPCR, rhodopsin-like superfamily (1);	0.185180	0.38058	N	0.001835	T	0.51398	0.1672	M	0.81802	2.56	0.09310	N	0.999994	D	0.76494	0.999	D	0.67382	0.951	T	0.39210	-0.9625	10	0.66056	D	0.02	.	4.7663	0.13134	0.7985:0.0:0.2015:0.0	.	221	Q96LB0	MRGX3_HUMAN	A	221	ENSP00000379571:T221A;ENSP00000436242:T221A	ENSP00000379571:T221A	T	+	1	0	MRGPRX3	18115986	0.967000	0.33354	0.386000	0.26170	0.050000	0.14768	1.356000	0.34079	-0.009000	0.14296	-1.266000	0.01441	ACA		0.552	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		27	77	0	0	0	1	0	27	77				
UGT2B28	54490	broad.mit.edu	37	4	70156348	70156348	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:70156348G>A	ENST00000335568.5	+	5	1131	c.1129G>A	c.(1129-1131)Gcc>Acc	p.A377T	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	377					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						TCATGGTGGAGCCAATGGCAT	0.398																																						ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1129-1131)Gcc>Acc		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						74.0	79.0	77.0					4																	70156348		2029	4223	6252	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70156348G>A	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1129G>A	4.37:g.70156348G>A	ENSP00000334276:p.Ala377Thr					UGT2B28_ENST00000511240.1_Intron	p.A377T	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			5	1131	+			377					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.1129G>A	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	0.004	-2.298369	0.00243	.	.	ENSG00000135226	ENST00000335568	T	0.62639	0.01	1.85	-2.74	0.05932	.	0.073888	0.52532	N	0.000067	T	0.25975	0.0633	N	0.03983	-0.305	0.80722	D	1	B	0.15719	0.014	B	0.17979	0.02	T	0.29941	-0.9995	10	0.05833	T	0.94	.	6.3279	0.21255	0.6814:0.0:0.3186:0.0	.	377	Q9BY64	UDB28_HUMAN	T	377	ENSP00000334276:A377T	ENSP00000334276:A377T	A	+	1	0	UGT2B28	70190937	0.346000	0.24844	0.994000	0.49952	0.145000	0.21501	0.690000	0.25451	-0.678000	0.05224	0.184000	0.17185	GCC		0.398	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		7	180	0	0	0	1	0	7	180				
POLR1A	25885	broad.mit.edu	37	2	86305002	86305002	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:86305002T>C	ENST00000263857.6	-	11	1738	c.1360A>G	c.(1360-1362)Aac>Gac	p.N454D	POLR1A_ENST00000409681.1_Missense_Mutation_p.N454D			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	454					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCAATTTCGTTGGTGTTGATG	0.542																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(1360-1362)Aac>Gac		polymerase (RNA) I polypeptide A, 194kDa							129.0	130.0	130.0					2																	86305002		2009	4155	6164	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86305002T>C	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1360A>G	2.37:g.86305002T>C	ENSP00000263857:p.Asn454Asp					POLR1A_ENST00000409681.1_Missense_Mutation_p.N454D	p.N454D			O95602	RPA1_HUMAN			11	1738	-			454					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.1360A>G	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.441761	0.43326	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.66815	-0.23;-0.23	5.62	5.62	0.85841	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.206138	0.51477	D	0.000098	T	0.52403	0.1732	N	0.17082	0.46	0.51233	D	0.999916	B	0.23854	0.092	B	0.28916	0.096	T	0.48658	-0.9016	10	0.17369	T	0.5	-17.6938	15.7908	0.78364	0.0:0.0:0.0:1.0	.	454	O95602	RPA1_HUMAN	D	454	ENSP00000263857:N454D;ENSP00000386300:N454D	ENSP00000263857:N454D	N	-	1	0	POLR1A	86158513	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.541000	0.82084	2.270000	0.75569	0.459000	0.35465	AAC		0.542	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		44	130	0	0	0	1	0	44	130				
NF1	4763	broad.mit.edu	37	17	29527540	29527540	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:29527540C>T	ENST00000358273.4	+	9	1372	c.989C>T	c.(988-990)gCa>gTa	p.A330V	NF1_ENST00000431387.4_Missense_Mutation_p.A330V|NF1_ENST00000356175.3_Missense_Mutation_p.A330V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	330			A -> T (in a cutaneous neurofibroma from a patient with neurofibromatosis; somatic mutation; dbSNP:rs199474767). {ECO:0000269|PubMed:22108604}.		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGTGTAAAGCAAGTACTTAC	0.413			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	14	Whole gene deletion(8)|Unknown(6)	p.0?(8)|p.?(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CI031908|CS072271	NF1	I|S		c.(988-990)gCa>gTa		neurofibromin 1							125.0	107.0	113.0					17																	29527540		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29527540C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.989C>T	17.37:g.29527540C>T	ENSP00000351015:p.Ala330Val	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.A330V|NF1_ENST00000431387.4_Missense_Mutation_p.A330V	p.A330V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	9	1372	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	330					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.989C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975114	0.92919	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	T;T;T	0.64618	2.06;-0.11;-0.11	5.39	5.39	0.77823	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79673	0.4486	M	0.75264	2.295	0.80722	D	1	D;D;P;D;D	0.67145	0.969;0.996;0.853;0.996;0.996	P;D;B;D;D	0.77557	0.52;0.971;0.376;0.99;0.99	T	0.79526	-0.1767	10	0.46703	T	0.11	.	19.1503	0.93485	0.0:1.0:0.0:0.0	.	330;330;330;330;330	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	V	330	ENSP00000412921:A330V;ENSP00000351015:A330V;ENSP00000348498:A330V	ENSP00000348498:A330V	A	+	2	0	NF1	26551666	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.182000	0.77689	2.542000	0.85734	0.591000	0.81541	GCA		0.413	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		20	74	0	0	0	1	0	20	74				
IL17RC	84818	broad.mit.edu	37	3	9972629	9972629	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:9972629T>C	ENST00000295981.3	+	16	1818		c.e16+2		IL17RC_ENST00000383812.4_Splice_Site|IL17RC_ENST00000455057.1_Splice_Site|CRELD1_ENST00000326434.5_5'Flank|IL17RC_ENST00000498214.1_Splice_Site|CRELD1_ENST00000383811.3_5'Flank|IL17RC_ENST00000416074.2_Splice_Site|IL17RC_ENST00000413608.1_Splice_Site|CRELD1_ENST00000452070.1_5'Flank|CRELD1_ENST00000397170.3_5'Flank|IL17RC_ENST00000403601.3_Splice_Site	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C						cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGGACAAATGTGAGTATTGTA	0.522																																						ENST00000295981.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.e16+2		interleukin 17 receptor C							274.0	255.0	261.0					3																	9972629		2203	4300	6503	SO:0001630	splice_region_variant	84818					integral to membrane|plasma membrane	receptor activity	g.chr3:9972629T>C	BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1600+2T>C	3.37:g.9972629T>C						IL17RC_ENST00000498214.1_Splice_Site|IL17RC_ENST00000383812.4_Splice_Site|IL17RC_ENST00000455057.1_Splice_Site|IL17RC_ENST00000416074.2_Splice_Site|IL17RC_ENST00000403601.3_Splice_Site|IL17RC_ENST00000413608.1_Splice_Site		NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN			16	1818	+								E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Splice_Site	SNP	ENST00000295981.3	37		CCDS2590.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.096432	0.56075	.	.	ENSG00000163702	ENST00000383812;ENST00000295981;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8518	0.46775	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL17RC	9947629	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	3.714000	0.54889	2.000000	0.58554	0.379000	0.24179	.		0.522	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732	Intron	55	147	0	0	0	1	0	55	147				
SIK3	23387	broad.mit.edu	37	11	116719879	116719879	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:116719879G>A	ENST00000292055.4	-	21	3493	c.3458C>T	c.(3457-3459)gCc>gTc	p.A1153V	SIK3_ENST00000542607.1_Missense_Mutation_p.A1093V|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000446921.2_Missense_Mutation_p.A1151V|SIK3_ENST00000434315.2_Missense_Mutation_p.A992V|SIK3_ENST00000375300.1_Missense_Mutation_p.A1211V|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Missense_Mutation_p.A488V	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1153					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCTCTGGAGGGCCCGGGGCCT	0.597																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(3631-3633)gCc>gTc		SIK family kinase 3							151.0	117.0	128.0					11																	116719879		2201	4294	6495	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116719879G>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.3458C>T	11.37:g.116719879G>A	ENSP00000292055:p.Ala1153Val					SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Missense_Mutation_p.A1093V|SIK3_ENST00000375288.1_Missense_Mutation_p.A488V|SIK3_ENST00000446921.2_Missense_Mutation_p.A1151V|SIK3_ENST00000292055.4_Missense_Mutation_p.A1153V|SIK3_ENST00000434315.2_Missense_Mutation_p.A992V|AP006216.12_ENST00000444200.1_RNA	p.A1211V			Q9Y2K2	SIK3_HUMAN			21	3637	-			1153					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.3632C>T	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167441	0.57476	.	.	ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	T;T;T;T;T	0.71103	-0.5;-0.54;1.49;-0.54;-0.14	5.26	5.26	0.73747	.	0.162873	0.28241	U	0.016067	T	0.52565	0.1742	N	0.14661	0.345	0.21499	N	0.999666	B;B;B;B	0.21309	0.054;0.015;0.015;0.034	B;B;B;B	0.18263	0.021;0.011;0.021;0.014	T	0.49818	-0.8899	10	0.72032	D	0.01	.	9.5054	0.39044	0.0765:0.1438:0.7797:0.0	.	1093;992;1153;488	A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2	.;.;SIK3_HUMAN;.	V	1211;1153;488;1093;992	ENSP00000364449:A1211V;ENSP00000292055:A1153V;ENSP00000364437:A488V;ENSP00000438108:A1093V;ENSP00000415873:A992V	ENSP00000292055:A1153V	A	-	2	0	SIK3	116225089	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.934000	0.63491	2.462000	0.83206	0.557000	0.71058	GCC		0.597	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		44	97	0	0	0	1	0	44	97				
KHDC3L	154288	broad.mit.edu	37	6	74073402	74073402	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:74073402G>A	ENST00000370367.3	+	3	526	c.473G>A	c.(472-474)cGt>cAt	p.R158H		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	158							RNA binding (GO:0003723)										GGGACCCAGCGTTCGGTGGAA	0.672																																						ENST00000370367.3																			0											c.(472-474)cGt>cAt		KH domain containing 3-like, subcortical maternal complex member							31.0	36.0	34.0					6																	74073402		2203	4300	6503	SO:0001583	missense	154288							g.chr6:74073402G>A	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"""ES cell associated transcript 1"""	611687	"""chromosome 6 open reading frame 221"""	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.473G>A	6.37:g.74073402G>A	ENSP00000359392:p.Arg158His						p.R158H	NM_001017361.2	NP_001017361.1					3	526	+								B2RNW7	Missense_Mutation	SNP	ENST00000370367.3	37	c.473G>A	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685528	0.47991	.	.	ENSG00000203908	ENST00000370367	T	0.50813	0.73	2.37	-1.95	0.07548	.	2.943890	0.01314	N	0.010704	T	0.28764	0.0713	L	0.40543	1.245	0.09310	N	1	D	0.71674	0.998	P	0.55615	0.78	T	0.08229	-1.0732	10	0.41790	T	0.15	-1.0792	2.5528	0.04753	0.4219:0.0:0.3561:0.222	.	158	Q587J8	ECAT1_HUMAN	H	158	ENSP00000359392:R158H	ENSP00000359392:R158H	R	+	2	0	C6orf221	74130123	0.000000	0.05858	0.021000	0.16686	0.318000	0.28184	-0.027000	0.12371	-0.510000	0.06523	-0.350000	0.07774	CGT		0.672	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361		31	70	0	0	0	1	0	31	70				
CHD6	84181	broad.mit.edu	37	20	40065975	40065975	+	Splice_Site	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:40065975C>G	ENST00000373233.3	-	27	4185		c.e27-1		CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6						ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.?(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGTGTTGCCTCTAAATAAAAG	0.398																																						ENST00000373233.3																			1	Unknown(1)	p.?(1)	urinary_tract(1)	breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.e27-1		chromodomain helicase DNA binding protein 6							153.0	122.0	133.0					20																	40065975		2203	4300	6503	SO:0001630	splice_region_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40065975C>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4008-1G>C	20.37:g.40065975C>G						CHD6_ENST00000309279.7_Intron		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			27	4185	-		Myeloproliferative disorder(115;0.00425)						Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Splice_Site	SNP	ENST00000373233.3	37		CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953572	0.73902	.	.	ENSG00000124177	ENST00000373233	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6951	0.77490	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD6	39499389	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.487000	0.60293	2.473000	0.83533	0.655000	0.94253	.		0.398	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		Intron	16	40	0	0	0	1	0	16	40				
SH2B1	25970	broad.mit.edu	37	16	28880417	28880417	+	Splice_Site	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:28880417G>C	ENST00000322610.8	+	6	1571	c.1132G>C	c.(1132-1134)Gga>Cga	p.G378R	SH2B1_ENST00000545570.1_Splice_Site_p.G68R|SH2B1_ENST00000359285.5_Splice_Site_p.G378R|SH2B1_ENST00000538342.1_Splice_Site_p.G42R|SH2B1_ENST00000395532.4_Splice_Site_p.G378R|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Splice_Site_p.G378R			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	378	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.G378*(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCTGAGCCCAGGGTGAGAAGC	0.562																																						ENST00000337120.5																			2	Substitution - Nonsense(2)	p.G378*(2)	lung(2)	endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.e3+1		SH2B adaptor protein 1							118.0	103.0	108.0					16																	28880417		2197	4300	6497	SO:0001630	splice_region_variant	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28880417G>C	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1133+1G>C	16.37:g.28880417G>C						SH2B1_ENST00000545570.1_Splice_Site_p.G68_splice|SH2B1_ENST00000538342.1_Splice_Site_p.G42_splice|SH2B1_ENST00000359285.5_Splice_Site_p.G378_splice|SH2B1_ENST00000322610.8_Splice_Site_p.G378_splice|SH2B1_ENST00000395532.4_Splice_Site_p.G378_splice|SH2B1_ENST00000563674.1_Intron	p.G378_splice	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN			3	4423	+			378			Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Splice_Site	SNP	ENST00000322610.8	37	c.1133_splice	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033749	0.75504	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	4.83	4.83	0.62350	Pleckstrin homology domain (1);	0.000000	0.48767	D	0.000168	T	0.41396	0.1157	N	0.19112	0.55	0.38529	D	0.948916	P;D;D;D;D	0.89917	0.901;1.0;1.0;0.98;1.0	B;D;D;P;D	0.91635	0.249;0.999;0.999;0.849;0.999	T	0.43310	-0.9399	10	0.46703	T	0.11	-25.0824	16.8433	0.85973	0.0:0.0:1.0:0.0	.	42;68;378;378;378	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	R	378;68;378;42;378;378	ENSP00000321221:G378R;ENSP00000440354:G68R;ENSP00000352232:G378R;ENSP00000438784:G42R;ENSP00000378903:G378R;ENSP00000337163:G378R	ENSP00000321221:G378R	G	+	1	0	SH2B1	28787918	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	3.630000	0.54273	2.504000	0.84457	0.467000	0.42956	GGA		0.562	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503	Missense_Mutation	6	120	0	0	0	1	0	6	120				
HLA-F	3134	broad.mit.edu	37	6	29693278	29693278	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:29693278T>C	ENST00000376861.1	+	6	1325	c.941T>C	c.(940-942)gTc>gCc	p.V314A	HLA-F_ENST00000434407.2_Missense_Mutation_p.V222A|HLA-F_ENST00000475996.1_3'UTR|HLA-F_ENST00000440587.2_Missense_Mutation_p.V196A|HLA-F_ENST00000259951.7_Missense_Mutation_p.V314A|HLA-F_ENST00000334668.4_Missense_Mutation_p.V314A			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	314					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GGCCTTGTTGTCCTTGGAGCT	0.587																																						ENST00000440587.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(586-588)gTc>gCc		major histocompatibility complex, class I, F							189.0	184.0	186.0					6																	29693278		1511	2709	4220	SO:0001583	missense	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29693278T>C	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.941T>C	6.37:g.29693278T>C	ENSP00000366057:p.Val314Ala					HLA-F_ENST00000376861.1_Missense_Mutation_p.V314A|HLA-F_ENST00000259951.7_Missense_Mutation_p.V314A|HLA-F_ENST00000334668.4_Missense_Mutation_p.V314A|HLA-F_ENST00000475996.1_3'UTR|HLA-F_ENST00000434407.2_Missense_Mutation_p.V222A	p.V196A			P30511	HLAF_HUMAN			5	946	+			314			Alpha-2.		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.587T>C	CCDS43438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	9.482|9.482	1.098497|1.098497	0.20552|0.20552	.|.	.|.	ENSG00000204642|ENSG00000204642	ENST00000429294|ENST00000376861;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000399258;ENST00000440587;ENST00000434407	.|T;T;T;T;T	.|0.00832	.|5.64;5.64;5.7;5.64;5.79	1.92|1.92	0.577|0.577	0.17385|0.17385	.|.	.|0.798338	.|0.09872	.|U	.|0.744701	T|T	0.00580|0.00580	0.0019|0.0019	M|M	0.73598|0.73598	2.24|2.24	0.09310|0.09310	N|N	1|1	.|P;B;B;B	.|0.43885	.|0.82;0.019;0.033;0.033	.|B;B;B;B	.|0.40982	.|0.345;0.003;0.007;0.007	T|T	0.44559|0.44559	-0.9320|-0.9320	5|10	.|0.87932	.|D	.|0	.|.	3.9168|3.9168	0.09227|0.09227	0.3238:0.0:0.0:0.6762|0.3238:0.0:0.0:0.6762	.|.	.|314;314;314;222	.|A8MVU7;P30511;P30511-3;P30511-2	.|.;HLAF_HUMAN;.;.	P|A	193|314;291;314;314;228;196;222	.|ENSP00000366057:V314A;ENSP00000334263:V314A;ENSP00000259951:V314A;ENSP00000404130:V196A;ENSP00000397376:V222A	.|ENSP00000259951:V314A	S|V	+|+	1|2	0|0	HLA-F|HLA-F	29801257|29801257	0.002000|0.002000	0.14202|0.14202	0.001000|0.001000	0.08648|0.08648	0.005000|0.005000	0.04900|0.04900	1.225000|1.225000	0.32551|0.32551	-0.006000|-0.006000	0.14370|0.14370	0.358000|0.358000	0.22013|0.22013	TCC|GTC		0.587	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		56	179	0	0	0	1	0	56	179				
ZFHX4	79776	broad.mit.edu	37	8	77618583	77618583	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:77618583G>A	ENST00000521891.2	+	2	2708	c.2260G>A	c.(2260-2262)Gga>Aga	p.G754R	ZFHX4_ENST00000050961.6_Missense_Mutation_p.G754R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G754R|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G754R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	754					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGTGGCTGCGGAACACCCTC	0.527										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(2260-2262)Gga>Aga		zinc finger homeobox 4							37.0	42.0	40.0					8																	77618583		2101	4258	6359	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618583G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2260G>A	8.37:g.77618583G>A	ENSP00000430497:p.Gly754Arg	HNSCC(33;0.089)				ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G754R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G754R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G754R	p.G754R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2708	+			754					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2260G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364521	0.41902	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.1	5.1	0.69264	.	0.000000	0.44285	U	0.000477	T	0.62159	0.2405	M	0.62723	1.935	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.87	D;D;D;B	0.68483	0.909;0.958;0.958;0.245	T	0.58940	-0.7547	10	0.41790	T	0.15	.	19.0659	0.93110	0.0:0.0:1.0:0.0	.	754;754;754;754	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	R	754	ENSP00000430497:G754R;ENSP00000399605:G754R;ENSP00000050961:G754R;ENSP00000430848:G754R	ENSP00000050961:G754R	G	+	1	0	ZFHX4	77781138	1.000000	0.71417	0.966000	0.40874	0.988000	0.76386	7.430000	0.80321	2.803000	0.96430	0.650000	0.86243	GGA		0.527	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		20	36	0	0	0	1	0	20	36				
COPB2	9276	broad.mit.edu	37	3	139077983	139077983	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:139077983T>C	ENST00000333188.5	-	19	2522	c.2341A>G	c.(2341-2343)Aat>Gat	p.N781D	COPB2_ENST00000507777.1_Missense_Mutation_p.N752D	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	781					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GCTTTCTGATTGACTTTTGAG	0.398																																						ENST00000333188.5																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(2341-2343)Aat>Gat		coatomer protein complex, subunit beta 2 (beta prime)							113.0	113.0	113.0					3																	139077983		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139077983T>C	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2341A>G	3.37:g.139077983T>C	ENSP00000329419:p.Asn781Asp					COPB2_ENST00000507777.1_Missense_Mutation_p.N752D	p.N781D	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN			19	2522	-			781					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.2341A>G	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	T	15.67	2.902764	0.52227	.	.	ENSG00000184432	ENST00000333188;ENST00000507777	T;T	0.64260	-0.09;0.02	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.66723	0.2818	M	0.81341	2.54	0.58432	D	0.999994	P	0.41420	0.749	B	0.40741	0.339	T	0.70579	-0.4833	9	.	.	.	-13.1037	15.2407	0.73468	0.0:0.0:0.0:1.0	.	781	P35606	COPB2_HUMAN	D	781;752	ENSP00000329419:N781D;ENSP00000422295:N752D	.	N	-	1	0	COPB2	140560673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.758000	0.68776	2.010000	0.58986	0.533000	0.62120	AAT		0.398	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		21	83	0	0	0	1	0	21	83				
MIOS	54468	broad.mit.edu	37	7	7612634	7612634	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:7612634A>G	ENST00000340080.4	+	4	949	c.528A>G	c.(526-528)aaA>aaG	p.K176K	MIOS_ENST00000405785.1_Silent_p.K176K	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	176						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TAGTAACAAAACCACTTTATG	0.388																																						ENST00000340080.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(526-528)aaA>aaG		missing oocyte, meiosis regulator, homolog (Drosophila)							41.0	39.0	39.0					7																	7612634		1882	4119	6001	SO:0001819	synonymous_variant	54468							g.chr7:7612634A>G		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.528A>G	7.37:g.7612634A>G						MIOS_ENST00000405785.1_Silent_p.K176K	p.K176K	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN			4	949	+			176					B2RTV6|O75216|Q7L551|Q9H092	Silent	SNP	ENST00000340080.4	37	c.528A>G	CCDS43554.1																																																																																				0.388	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		13	40	0	0	0	1	0	13	40				
MAP3K4	4216	broad.mit.edu	37	6	161519378	161519378	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:161519378C>T	ENST00000392142.4	+	17	3741	c.3593C>T	c.(3592-3594)gCt>gTt	p.A1198V	MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.A1194V|MAP3K4_ENST00000348824.7_Intron	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1198	Poly-Ala.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		gctgctgctgctgctgttgct	0.597																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(3592-3594)gCt>gTt		mitogen-activated protein kinase kinase kinase 4							93.0	92.0	92.0					6																	161519378		2203	4299	6502	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161519378C>T	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3593C>T	6.37:g.161519378C>T	ENSP00000375986:p.Ala1198Val					MAP3K4_ENST00000348824.7_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.A1194V|MAP3K4_ENST00000366919.2_Intron	p.A1198V	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	17	3741	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1198			Poly-Ala.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.3593C>T	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.360800	0.01245	.	.	ENSG00000085511	ENST00000392142;ENST00000366920	T;T	0.71103	-0.54;-0.53	2.29	2.29	0.28610	.	0.754387	0.11657	N	0.542271	T	0.51227	0.1662	N	0.19112	0.55	0.26345	N	0.977309	B;D	0.57571	0.073;0.98	B;D	0.65443	0.037;0.935	T	0.39354	-0.9618	10	0.10377	T	0.69	-7.006	8.5531	0.33465	0.0:1.0:0.0:0.0	.	1194;1198	F5H538;Q9Y6R4	.;M3K4_HUMAN	V	1198;1194	ENSP00000375986:A1198V;ENSP00000355887:A1194V	ENSP00000355887:A1194V	A	+	2	0	MAP3K4	161439368	0.010000	0.17322	0.105000	0.21289	0.511000	0.34104	0.116000	0.15561	1.726000	0.51525	0.366000	0.22137	GCT		0.597	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			83	210	0	0	0	1	0	83	210				
SCUBE1	80274	broad.mit.edu	37	22	43687081	43687081	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:43687081T>C	ENST00000360835.4	-	4	581	c.455A>G	c.(454-456)aAc>aGc	p.N152S	SCUBE1_ENST00000290460.7_Missense_Mutation_p.N152S	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	152	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GGTATGCTGGTTGTCACTAAG	0.582																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(454-456)aAc>aGc		signal peptide, CUB domain, EGF-like 1							98.0	59.0	72.0					22																	43687081		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43687081T>C		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.455A>G	22.37:g.43687081T>C	ENSP00000354080:p.Asn152Ser					SCUBE1_ENST00000290460.7_Missense_Mutation_p.N152S	p.N152S	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			4	581	-		all_neural(38;0.0414)|Ovarian(80;0.07)	152			EGF-like 3; calcium-binding (Potential).		Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.455A>G	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507922	0.85282	.	.	ENSG00000159307	ENST00000360835;ENST00000434132;ENST00000290460	D;D	0.96522	-4.04;-4.04	4.97	4.97	0.65823	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.098047	0.64402	D	0.000001	D	0.96706	0.8925	L	0.35644	1.08	0.80722	D	1	D;P	0.89917	1.0;0.956	D;P	0.85130	0.997;0.715	D	0.97575	1.0107	10	0.87932	D	0	.	14.8172	0.70045	0.0:0.0:0.0:1.0	.	152;152	B1AH90;Q8IWY4	.;SCUB1_HUMAN	S	152	ENSP00000354080:N152S;ENSP00000290460:N152S	ENSP00000290460:N152S	N	-	2	0	SCUBE1	42017025	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.686000	0.84128	2.077000	0.62373	0.533000	0.62120	AAC		0.582	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		6	15	0	0	0	1	0	6	15				
TRBV7-4	28594	broad.mit.edu	37	7	142176399	142176399	+	RNA	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:142176399C>T	ENST00000390369.2	-	0	276									T cell receptor beta variable 7-4 (gene/pseudogene)																		AGAGTGGAGACGGATCTCTCA	0.582																																						ENST00000390369.2																			0																				66.0	64.0	65.0					7																	142176399		1963	4150	6113			28594							g.chr7:142176399C>T	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253409	ENSG00000253409		"""T cell receptors / TRB locus"""	12238	other	T cell receptor gene			"""T cell receptor beta variable 7-4"""			8650574	Standard	NG_001333		Approved	TRBV74, TCRBV6S8A2T, TCRBV7S4			OTTHUMG00000158508		7.37:g.142176399C>T														0	276	-									RNA	SNP	ENST00000390369.2	37																																																																																						0.582	TRBV7-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351214.2	NG_001333		21	68	0	0	0	1	0	21	68				
OR5D13	390142	broad.mit.edu	37	11	55541364	55541364	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:55541364T>C	ENST00000361760.1	+	1	451	c.451T>C	c.(451-453)Tat>Cat	p.Y151H		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GGCTGGGTCCTATACATGGGG	0.423																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(451-453)Tat>Cat		olfactory receptor, family 5, subfamily D, member 13							193.0	192.0	192.0					11																	55541364		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541364T>C	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.451T>C	11.37:g.55541364T>C	ENSP00000354800:p.Tyr151His						p.Y151H	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	451	+		all_epithelial(135;0.196)	151					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.451T>C	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.315249	0.40996	.	.	ENSG00000198877	ENST00000361760	T	0.38401	1.14	3.3	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31233	U	0.008015	T	0.65407	0.2688	M	0.92923	3.36	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59920	-0.7363	10	0.72032	D	0.01	-1.1176	10.9515	0.47332	0.0:0.0:0.0:1.0	.	151	Q8NGL4	OR5DD_HUMAN	H	151	ENSP00000354800:Y151H	ENSP00000354800:Y151H	Y	+	1	0	OR5D13	55297940	0.543000	0.26434	0.007000	0.13788	0.003000	0.03518	4.422000	0.59854	1.535000	0.49220	0.398000	0.26397	TAT		0.423	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		63	163	0	0	0	1	0	63	163				
CFAP97	57587	broad.mit.edu	37	4	186111712	186111712	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:186111712A>G	ENST00000458385.2	-	2	758	c.639T>C	c.(637-639)ggT>ggC	p.G213G	KIAA1430_ENST00000296775.6_Silent_p.G213G|KIAA1430_ENST00000514798.1_Silent_p.G213G	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		213	Ser-rich.									endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGAGGGTTATACCAGATACAT	0.418																																						ENST00000458385.2																			0				endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11						c.(637-639)ggT>ggC		KIAA1430							149.0	137.0	140.0					4																	186111712		1894	4136	6030	SO:0001819	synonymous_variant	57587							g.chr4:186111712A>G																												ENST00000458385.2:c.639T>C	4.37:g.186111712A>G						KIAA1430_ENST00000514798.1_Silent_p.G213G|KIAA1430_ENST00000296775.6_Silent_p.G213G	p.G213G	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	2	758	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	213			Ser-rich.		B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Silent	SNP	ENST00000458385.2	37	c.639T>C	CCDS47168.1																																																																																				0.418	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2			6	33	0	0	0	1	0	6	33				
TEKT1	83659	broad.mit.edu	37	17	6703349	6703349	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:6703349G>A	ENST00000338694.2	-	8	1383	c.1254C>T	c.(1252-1254)tgC>tgT	p.C418C	TEKT1_ENST00000535086.1_Silent_p.C272C	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	418						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CCTACTATTAGCAGACAGCAT	0.527																																						ENST00000338694.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(1252-1254)tgC>tgT		tektin 1							96.0	100.0	99.0					17																	6703349		2203	4300	6503	SO:0001819	synonymous_variant	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6703349G>A		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.1254C>T	17.37:g.6703349G>A						TEKT1_ENST00000535086.1_Silent_p.C272C	p.C418C	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN			8	1383	-		Myeloproliferative disorder(207;0.0255)	418					D3DTM7	Silent	SNP	ENST00000338694.2	37	c.1254C>T	CCDS11083.1																																																																																				0.527	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		43	137	0	0	0	1	0	43	137				
SLC4A11	83959	broad.mit.edu	37	20	3210407	3210407	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:3210407T>C	ENST00000380056.3	-	13	1600	c.1553A>G	c.(1552-1554)tAc>tGc	p.Y518C	SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000539553.2_Missense_Mutation_p.Y502C|SLC4A11_ENST00000380059.3_Missense_Mutation_p.Y545C	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	518	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.Y518C(1)|p.Y545C(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						ATGCCCATAGTAGTACTTCCA	0.597																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			2	Substitution - Missense(2)	p.Y518C(1)|p.Y545C(1)	endometrium(2)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(1633-1635)tAc>tGc		solute carrier family 4, sodium borate transporter, member 11							96.0	95.0	95.0					20																	3210407		2203	4300	6503	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3210407T>C	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1553A>G	20.37:g.3210407T>C	ENSP00000369396:p.Tyr518Cys					SLC4A11_ENST00000474451.1_Intron|SLC4A11_ENST00000380056.3_Missense_Mutation_p.Y518C|SLC4A11_ENST00000539553.1_Missense_Mutation_p.Y502C	p.Y545C	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			14	1735	-			518			Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.1634A>G	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968726	0.53614	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.78481	-1.18;-1.18;-1.18	4.88	4.88	0.63580	Bicarbonate transporter, C-terminal (1);	0.204072	0.43416	D	0.000565	D	0.88078	0.6340	M	0.85373	2.75	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.986;0.992;0.992	D	0.89277	0.3609	10	0.56958	D	0.05	.	12.5102	0.56002	0.0:0.0:0.0:1.0	.	502;545;518	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	C	545;518;502	ENSP00000369399:Y545C;ENSP00000369396:Y518C;ENSP00000441370:Y502C	ENSP00000369396:Y518C	Y	-	2	0	SLC4A11	3158407	1.000000	0.71417	0.975000	0.42487	0.673000	0.39480	2.874000	0.48483	1.944000	0.56390	0.379000	0.24179	TAC		0.597	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			26	96	0	0	0	1	0	26	96				
IRS2	8660	broad.mit.edu	37	13	110434506	110434506	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:110434506C>T	ENST00000375856.3	-	1	4409	c.3895G>A	c.(3895-3897)Gtc>Atc	p.V1299I		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1299					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GTGCTGCCGACGCCCACAGCG	0.726																																					Melanoma(100;613 2409 40847)	ENST00000375856.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(3895-3897)Gtc>Atc		insulin receptor substrate 2							6.0	10.0	8.0					13																	110434506		1976	3906	5882	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110434506C>T	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3895G>A	13.37:g.110434506C>T	ENSP00000365016:p.Val1299Ile						p.V1299I	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	4409	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	1299					Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.3895G>A	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	C	4.666	0.123918	0.08931	.	.	ENSG00000185950	ENST00000375856	T	0.47528	0.84	4.12	1.45	0.22620	.	0.943089	0.08659	U	0.912731	T	0.24275	0.0588	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.19647	-1.0299	10	0.36615	T	0.2	-1.3791	3.3645	0.07198	0.1803:0.4057:0.0:0.4141	.	1299	Q9Y4H2	IRS2_HUMAN	I	1299	ENSP00000365016:V1299I	ENSP00000365016:V1299I	V	-	1	0	IRS2	109232507	0.005000	0.15991	0.000000	0.03702	0.014000	0.08584	0.250000	0.18235	0.076000	0.16826	0.462000	0.41574	GTC		0.726	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		11	18	0	0	0	1	0	11	18				
CDCA2	157313	broad.mit.edu	37	8	25365243	25365243	+	Silent	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:25365243A>C	ENST00000330560.3	+	15	3538	c.3061A>C	c.(3061-3063)Aga>Cga	p.R1021R	CDCA2_ENST00000380665.3_Silent_p.R1006R|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	1021					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TAATGGAGAAAGAAAGCAGTA	0.453																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(3061-3063)Aga>Cga		cell division cycle associated 2							65.0	67.0	66.0					8																	25365243		2203	4300	6503	SO:0001819	synonymous_variant	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25365243A>C	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.3061A>C	8.37:g.25365243A>C						CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.R1006R	p.R1021R	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	15	3538	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	1021					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Silent	SNP	ENST00000330560.3	37	c.3061A>C	CCDS6049.1																																																																																				0.453	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		26	114	0	0	0	1	0	26	114				
SLC44A3	126969	broad.mit.edu	37	1	95322958	95322958	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:95322958G>C	ENST00000271227.6	+	10	1242	c.1140G>C	c.(1138-1140)tgG>tgC	p.W380C	SLC44A3_ENST00000527077.1_Missense_Mutation_p.W312C|RP11-465K1.2_ENST00000422162.1_RNA|SLC44A3_ENST00000467909.1_Missense_Mutation_p.W332C|SLC44A3_ENST00000532427.1_Missense_Mutation_p.W300C|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000446120.2_Missense_Mutation_p.W344C|SLC44A3_ENST00000529450.1_Missense_Mutation_p.W348C	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	380					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GGTACATGTGGTCGTACCATT	0.463																																						ENST00000271227.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(1138-1140)tgG>tgC		solute carrier family 44, member 3	Choline(DB00122)						190.0	167.0	175.0					1																	95322958		2203	4300	6503	SO:0001583	missense	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95322958G>C	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1140G>C	1.37:g.95322958G>C	ENSP00000271227:p.Trp380Cys					SLC44A3_ENST00000529450.1_Missense_Mutation_p.W348C|SLC44A3_ENST00000446120.2_Missense_Mutation_p.W344C|SLC44A3_ENST00000532427.1_Missense_Mutation_p.W300C|SLC44A3_ENST00000527077.1_Missense_Mutation_p.W312C|SLC44A3_ENST00000467909.1_Missense_Mutation_p.W332C|SLC44A3_ENST00000530397.1_3'UTR	p.W380C	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	10	1242	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	380					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	ENST00000271227.6	37	c.1140G>C	CCDS44176.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789386	0.49997	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427	T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98	4.8	4.8	0.61643	.	0.265710	0.27613	N	0.018593	T	0.36054	0.0953	M	0.75615	2.305	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;D;D;D;D	0.76071	0.979;0.951;0.979;0.987;0.979	T	0.13683	-1.0500	10	0.72032	D	0.01	-12.1251	11.9411	0.52901	0.0912:0.0:0.9088:0.0	.	300;344;312;348;380	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	C	344;380;312;348;332;300	ENSP00000389143:W344C;ENSP00000271227:W380C;ENSP00000433641:W312C;ENSP00000431836:W348C;ENSP00000432789:W332C;ENSP00000436661:W300C	ENSP00000271227:W380C	W	+	3	0	SLC44A3	95095546	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	2.530000	0.45641	2.511000	0.84671	0.650000	0.86243	TGG		0.463	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		32	68	0	0	0	1	0	32	68				
BRWD1	54014	broad.mit.edu	37	21	40630422	40630422	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:40630422G>A	ENST00000333229.2	-	18	2389	c.2062C>T	c.(2062-2064)Ccc>Tcc	p.P688S	BRWD1_ENST00000380800.3_Missense_Mutation_p.P688S|BRWD1_ENST00000342449.3_Missense_Mutation_p.P688S	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	688					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCTCTCCGGGGTGTTTCTTCA	0.388																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(2062-2064)Ccc>Tcc		bromodomain and WD repeat domain containing 1							186.0	183.0	184.0					21																	40630422		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40630422G>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2062C>T	21.37:g.40630422G>A	ENSP00000330753:p.Pro688Ser					BRWD1_ENST00000380800.3_Missense_Mutation_p.P688S|BRWD1_ENST00000333229.2_Missense_Mutation_p.P688S	p.P688S	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			18	2140	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	688					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.2062C>T	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.46|14.46	2.540862|2.540862	0.45280|0.45280	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800|ENST00000455867	T;T;T|T	0.56103|0.53206	0.48;0.52;0.61|0.63	5.46|5.46	4.56|4.56	0.56223|0.56223	.|.	0.086042|.	0.50627|.	D|.	0.000103|.	T|T	0.55369|0.55369	0.1916|0.1916	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P;B;B;D|.	0.61697|.	0.857;0.0;0.235;0.99|.	B;B;B;P|.	0.52554|.	0.283;0.001;0.112;0.702|.	T|T	0.52056|0.52056	-0.8626|-0.8626	10|7	0.34782|0.31617	T|T	0.22|0.26	-5.432|-5.432	13.8406|13.8406	0.63437|0.63437	0.0:0.0:0.8471:0.1529|0.0:0.0:0.8471:0.1529	.|.	399;399;688;688|.	Q5R2U6;Q5R2U8;Q9NSI6-2;Q9NSI6|.	.;.;.;BRWD1_HUMAN|.	S|I	688|399	ENSP00000330753:P688S;ENSP00000344333:P688S;ENSP00000370178:P688S|ENSP00000389882:T399I	ENSP00000330753:P688S|ENSP00000398900:T399I	P|T	-|-	1|2	0|0	BRWD1|BRWD1	39552292|39552292	1.000000|1.000000	0.71417|0.71417	0.892000|0.892000	0.35008|0.35008	0.760000|0.760000	0.43138|0.43138	6.974000|6.974000	0.76122|0.76122	1.279000|1.279000	0.44446|0.44446	0.655000|0.655000	0.94253|0.94253	CCC|ACC		0.388	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		58	161	0	0	0	1	0	58	161				
RB1CC1	9821	broad.mit.edu	37	8	53586550	53586550	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:53586550A>G	ENST00000025008.5	-	7	1380	c.857T>C	c.(856-858)gTt>gCt	p.V286A	RB1CC1_ENST00000539297.1_Missense_Mutation_p.V286A|RB1CC1_ENST00000435644.2_Missense_Mutation_p.V286A|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	286					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTGCTGATGAACAGTACTTTG	0.388																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(856-858)gTt>gCt		RB1-inducible coiled-coil 1							203.0	184.0	190.0					8																	53586550		2203	4300	6503	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53586550A>G	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.857T>C	8.37:g.53586550A>G	ENSP00000025008:p.Val286Ala					RB1CC1_ENST00000539297.1_Missense_Mutation_p.V286A|RB1CC1_ENST00000435644.2_Missense_Mutation_p.V286A|RB1CC1_ENST00000521611.1_Intron	p.V286A	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			7	1380	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	286					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.857T>C	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.555321	0.27739	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.13089	2.62;2.62;2.62	5.49	1.85	0.25348	.	1.071800	0.07206	N	0.858261	T	0.05273	0.0140	N	0.02011	-0.69	0.23298	N	0.99795	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42258	-0.9462	10	0.18276	T	0.48	-0.1084	7.9494	0.30006	0.7702:0.0:0.2298:0.0	.	286;286	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	A	286	ENSP00000025008:V286A;ENSP00000396067:V286A;ENSP00000445960:V286A	ENSP00000025008:V286A	V	-	2	0	RB1CC1	53749103	0.344000	0.24827	0.988000	0.46212	0.986000	0.74619	1.427000	0.34881	0.465000	0.27167	0.460000	0.39030	GTT		0.388	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		55	172	0	0	0	1	0	55	172				
SPINT1	6692	broad.mit.edu	37	15	41146652	41146652	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:41146652A>G	ENST00000344051.4	+	7	1280	c.1046A>G	c.(1045-1047)gAc>gGc	p.D349G	SPINT1_ENST00000431806.1_Missense_Mutation_p.D333G|SPINT1_ENST00000562057.1_Missense_Mutation_p.D333G			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	349	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TGCTGCATCGACAGTTTCCTG	0.612																																						ENST00000344051.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(1045-1047)gAc>gGc		serine peptidase inhibitor, Kunitz type 1							51.0	49.0	50.0					15																	41146652		2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41146652A>G		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.1046A>G	15.37:g.41146652A>G	ENSP00000342098:p.Asp349Gly					SPINT1_ENST00000431806.1_Missense_Mutation_p.D333G|SPINT1_ENST00000562057.1_Missense_Mutation_p.D333G	p.D349G			O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	7	1280	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	349			LDL-receptor class A.		Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.1046A>G	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.561957	0.65538	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.95622	-3.76;-3.76	5.4	5.4	0.78164	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.257298	0.44483	D	0.000447	D	0.96697	0.8922	L	0.58302	1.8	0.47994	D	0.999568	D;P;P	0.89917	1.0;0.658;0.728	D;B;P	0.91635	0.999;0.334;0.686	D	0.95643	0.8700	10	0.25106	T	0.35	-39.65	15.0864	0.72158	1.0:0.0:0.0:0.0	.	333;333;349	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	G	349;316;333	ENSP00000342098:D349G;ENSP00000409935:D333G	ENSP00000342098:D349G	D	+	2	0	SPINT1	38933944	1.000000	0.71417	0.860000	0.33809	0.909000	0.53808	5.343000	0.65976	2.055000	0.61198	0.460000	0.39030	GAC		0.612	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		14	91	0	0	0	1	0	14	91				
CPEB2	132864	broad.mit.edu	37	4	15054114	15054114	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:15054114A>G	ENST00000507071.1	+	6	1029	c.942A>G	c.(940-942)tcA>tcG	p.S314S	CPEB2_ENST00000259997.5_Silent_p.S322S|CPEB2_ENST00000442003.2_Silent_p.S732S|CPEB2_ENST00000382395.3_Silent_p.S292S|CPEB2_ENST00000541112.1_Silent_p.S751S|CPEB2_ENST00000382401.3_Silent_p.S287S|CPEB2_ENST00000538197.1_Silent_p.S759S|RP11-665G4.1_ENST00000502344.1_RNA|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000345451.3_Silent_p.S284S			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	314					cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						TTTTAAATTCACCCACCTGTT	0.393																																						ENST00000538197.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						c.(2275-2277)tcA>tcG		cytoplasmic polyadenylation element binding protein 2							195.0	183.0	187.0					4																	15054114		2203	4300	6503	SO:0001819	synonymous_variant	132864				regulation of translation	cytoplasm	nucleotide binding|RNA binding	g.chr4:15054114A>G	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.942A>G	4.37:g.15054114A>G						CPEB2_ENST00000345451.3_Silent_p.S284S|CPEB2_ENST00000259997.5_Silent_p.S322S|CPEB2_ENST00000382395.3_Silent_p.S292S|CPEB2_ENST00000382401.3_Silent_p.S287S|CPEB2_ENST00000442003.2_Silent_p.S732S|CPEB2_ENST00000507071.1_Silent_p.S314S|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000541112.1_Silent_p.S751S|RP11-665G4.1_ENST00000513384.1_RNA	p.S759S	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN			7	2277	+			314					E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Silent	SNP	ENST00000507071.1	37	c.2277A>G																																																																																					0.393	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607		23	86	0	0	0	1	0	23	86				
PPP1R13L	10848	broad.mit.edu	37	19	45899945	45899945	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:45899945C>T	ENST00000418234.2	-	4	648	c.570G>A	c.(568-570)gcG>gcA	p.A190A	PPP1R13L_ENST00000360957.5_Silent_p.A190A	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	190	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGGGCCCCTCCGCCAGGGGGC	0.786																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(568-570)gcG>gcA		protein phosphatase 1, regulatory subunit 13 like							4.0	5.0	5.0					19																	45899945		1078	2530	3608	SO:0001819	synonymous_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45899945C>T	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.570G>A	19.37:g.45899945C>T						PPP1R13L_ENST00000360957.5_Silent_p.A190A	p.A190A	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	4	648	-		all_neural(266;0.224)|Ovarian(192;0.231)	190			Pro-rich.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	37	c.570G>A	CCDS33050.1																																																																																				0.786	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		4	11	0	0	0	1	0	4	11				
KSR2	283455	broad.mit.edu	37	12	118198900	118198900	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:118198900A>G	ENST00000339824.5	-	4	1629	c.902T>C	c.(901-903)tTg>tCg	p.L301S	KSR2_ENST00000425217.1_Missense_Mutation_p.L272S			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	301					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCCGGGATCAAGTGTATCAG	0.657																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(814-816)tTg>tCg		kinase suppressor of ras 2							91.0	109.0	103.0					12																	118198900		1931	4133	6064	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118198900A>G	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.902T>C	12.37:g.118198900A>G	ENSP00000339952:p.Leu301Ser					KSR2_ENST00000339824.5_Missense_Mutation_p.L301S	p.L272S	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			4	869	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		301			Pro-rich.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.815T>C		.	.	.	.	.	.	.	.	.	.	A	23.2	4.390943	0.82902	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	T;T	0.57595	0.39;0.39	5.14	5.14	0.70334	.	0.169183	0.38663	N	0.001607	T	0.70334	0.3212	M	0.69358	2.11	0.47737	D	0.999509	D	0.89917	1.0	D	0.83275	0.996	T	0.73739	-0.3888	10	0.66056	D	0.02	.	14.61	0.68510	1.0:0.0:0.0:0.0	.	301	Q6VAB6	KSR2_HUMAN	S	272;301	ENSP00000389715:L272S;ENSP00000339952:L301S	ENSP00000339952:L301S	L	-	2	0	KSR2	116683283	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.893000	0.92498	1.919000	0.55581	0.477000	0.44152	TTG		0.657	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		29	362	0	0	0	1	0	29	362				
CPSF7	79869	broad.mit.edu	37	11	61183875	61183875	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:61183875G>A	ENST00000394888.4	-	6	839	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S	CPSF7_ENST00000439958.3_Missense_Mutation_p.P214S|CPSF7_ENST00000340437.4_Missense_Mutation_p.P266S|CPSF7_ENST00000448745.1_Missense_Mutation_p.P214S	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	223	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TTGAAGTAGGGCAGCACACTG	0.592																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(796-798)Ccc>Tcc		cleavage and polyadenylation specific factor 7, 59kDa							105.0	102.0	103.0					11																	61183875		2202	4299	6501	SO:0001583	missense	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183875G>A		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.667C>T	11.37:g.61183875G>A	ENSP00000378352:p.Pro223Ser					CPSF7_ENST00000394888.4_Missense_Mutation_p.P223S|CPSF7_ENST00000439958.3_Missense_Mutation_p.P214S|CPSF7_ENST00000448745.1_Missense_Mutation_p.P214S	p.P266S	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			6	876	-			223			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	c.796C>T	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.517148	0.64634	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.28713	0.141;0.141;0.22;0.22	B;B;B;B	0.29353	0.032;0.019;0.101;0.042	T	0.18461	-1.0336	9	0.13853	T	0.58	-4.6185	12.6931	0.56988	0.0759:0.0:0.9241:0.0	.	214;223;266;214	B4DGF8;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	S	266;223;214;214;214;214;214	.	ENSP00000345412:P266S	P	-	1	0	CPSF7	60940451	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.259000	0.58828	2.665000	0.90641	0.655000	0.94253	CCC		0.592	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		5	218	0	0	0	1	0	5	218				
GSG2	83903	broad.mit.edu	37	17	3629072	3629072	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:3629072A>G	ENST00000325418.4	+	1	1862	c.1843A>G	c.(1843-1845)Atg>Gtg	p.M615V	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	615	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										CTTAGAGCAAATGCGAACCAA	0.493																																						ENST00000325418.4																			0											c.(1843-1845)Atg>Gtg		germ cell associated 2 (haspin)							107.0	104.0	105.0					17																	3629072		2203	4300	6503	SO:0001583	missense	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3629072A>G	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1843A>G	17.37:g.3629072A>G	ENSP00000325290:p.Met615Val					ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	p.M615V	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	1862	+			615			Protein kinase.		Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.1843A>G	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	A	8.461	0.855201	0.17106	.	.	ENSG00000177602	ENST00000325418	T	0.61980	0.06	4.7	4.7	0.59300	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.194001	0.43579	D	0.000544	T	0.56934	0.2019	L	0.28014	0.82	0.42806	D	0.99394	P	0.46020	0.871	P	0.48552	0.581	T	0.63532	-0.6616	10	0.87932	D	0	-16.0651	12.5964	0.56472	1.0:0.0:0.0:0.0	.	615	Q8TF76	HASP_HUMAN	V	615	ENSP00000325290:M615V	ENSP00000325290:M615V	M	+	1	0	GSG2	3575821	1.000000	0.71417	0.860000	0.33809	0.213000	0.24496	6.742000	0.74843	2.073000	0.62155	0.533000	0.62120	ATG		0.493	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		9	141	0	0	0	1	0	9	141				
ADI1	55256	broad.mit.edu	37	2	3502803	3502803	+	Silent	SNP	C	C	T	rs200222805		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:3502803C>T	ENST00000327435.6	-	4	719	c.471G>A	c.(469-471)gcG>gcA	p.A157A	RP11-1293J14.1_ENST00000607415.1_lincRNA|ADI1_ENST00000382093.5_Silent_p.A151A	NM_018269.3	NP_060739.2			acireductone dioxygenase 1											breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		GCCGGTTGTACGCTGTCCACA	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15219	0.0		0.0	False		,,,				2504	0.0					ENST00000382093.5																			0				breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10						c.(451-453)gcG>gcA		acireductone dioxygenase 1		C		1,4405	2.1+/-5.4	0,1,2202	53.0	52.0	52.0		471	-9.2	0.0	2		52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADI1	NM_018269.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		157/180	3502803	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55256				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding	g.chr2:3502803C>T		CCDS1653.1	2p25.2	2013-05-29			ENSG00000182551	ENSG00000182551	1.13.11.54		30576	protein-coding gene	gene with protein product	"""membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1"""	613400				14718544, 15938715	Standard	NM_018269		Approved	SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD	uc002qxp.4	Q9BV57	OTTHUMG00000112441	ENST00000327435.6:c.471G>A	2.37:g.3502803C>T						ADI1_ENST00000327435.6_Silent_p.A157A	p.A151A			Q9BV57	MTND_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)	4	3290	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		157						Silent	SNP	ENST00000327435.6	37	c.453G>A	CCDS1653.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.385	0.629626	0.14257	2.27E-4	1.16E-4	ENSG00000182551	ENST00000415131	.	.	.	4.59	-9.19	0.00685	.	.	.	.	.	T	0.46795	0.1411	.	.	.	0.53688	D	0.999976	.	.	.	.	.	.	T	0.55438	-0.8141	4	.	.	.	-14.2084	8.4416	0.32818	0.0:0.2441:0.2589:0.497	.	.	.	.	I	95	.	.	V	-	1	0	ADI1	3481810	0.001000	0.12720	0.006000	0.13384	0.486000	0.33341	-2.089000	0.01357	-2.247000	0.00703	-1.735000	0.00691	GTA		0.567	ADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231914.6	NM_018269		19	50	0	0	0	1	0	19	50				
ANKS1B	56899	broad.mit.edu	37	12	99640329	99640329	+	Missense_Mutation	SNP	T	T	A	rs368192609	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:99640329T>A	ENST00000547776.2	-	13	2069	c.2070A>T	c.(2068-2070)agA>agT	p.R690S	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R690S|ANKS1B_ENST00000547010.1_Missense_Mutation_p.R270S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	690						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCCTGGTTGATCTTGTGCCAA	0.443																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(2068-2070)agA>agT		ankyrin repeat and sterile alpha motif domain containing 1B							120.0	112.0	115.0					12																	99640329		1883	4101	5984	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99640329T>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2070A>T	12.37:g.99640329T>A	ENSP00000449629:p.Arg690Ser					ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.R270S|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R690S	p.R690S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	13	2069	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	690					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.2070A>T	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.785462	0.31593	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702	T;T;T	0.59502	1.04;0.26;1.04	5.21	4.07	0.47477	.	0.541424	0.18718	N	0.133104	T	0.38825	0.1055	N	0.19112	0.55	0.47407	D	0.999411	B;B	0.10296	0.003;0.0	B;B	0.08055	0.003;0.001	T	0.11179	-1.0598	9	.	.	.	-6.8803	9.609	0.39652	0.0:0.0798:0.0:0.9202	.	270;690	Q7Z6G8-6;Q7Z6G8	.;ANS1B_HUMAN	S	690;270;690;269	ENSP00000449629:R690S;ENSP00000448512:R270S;ENSP00000331381:R690S	.	R	-	3	2	ANKS1B	98164460	0.997000	0.39634	0.699000	0.30290	0.973000	0.67179	1.734000	0.38166	0.934000	0.37316	0.379000	0.24179	AGA		0.443	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		13	52	0	0	0	1	0	13	52				
CAPN15	6650	broad.mit.edu	37	16	599378	599378	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:599378C>T	ENST00000219611.2	+	6	2112	c.1749C>T	c.(1747-1749)taC>taT	p.Y583Y	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	583	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AGGGCGCCTACCAGGTGCGGC	0.697																																						ENST00000219611.2																			0											c.(1747-1749)taC>taT		calpain 15							26.0	18.0	21.0					16																	599378		2170	4276	6446	SO:0001819	synonymous_variant	6650							g.chr16:599378C>T	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.1749C>T	16.37:g.599378C>T						LA16c-366D1.3_ENST00000565879.1_RNA	p.Y583Y	NM_005632.2	NP_005623.1					6	2112	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	ENST00000219611.2	37	c.1749C>T	CCDS10410.1																																																																																				0.697	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		6	14	0	0	0	1	0	6	14				
SLC39A5	283375	broad.mit.edu	37	12	56629464	56629464	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56629464C>T	ENST00000266980.4	+	6	1218	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	309					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.R308W(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCTTTTGCGGCACCGAGG	0.632																																						ENST00000266980.4																			1	Substitution - Missense(1)	p.R308W(1)	prostate(1)	NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(925-927)Cgg>Tgg		solute carrier family 39 (zinc transporter), member 5							155.0	155.0	155.0					12																	56629464		2203	4300	6503	SO:0001583	missense	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56629464C>T		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.925C>T	12.37:g.56629464C>T	ENSP00000266980:p.Arg309Trp					SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			6	1218	+			309					B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	c.925C>T	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722711	0.68959	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.48522	0.81;0.81	3.7	3.7	0.42460	.	.	.	.	.	T	0.63522	0.2518	M	0.80616	2.505	0.33220	D	0.554505	D;D	0.65815	0.995;0.995	P;P	0.58077	0.832;0.667	T	0.74702	-0.3576	9	0.72032	D	0.01	-20.8821	11.2733	0.49153	0.0:1.0:0.0:0.0	.	309;200	Q6ZMH5;B4DPG8	S39A5_HUMAN;.	W	309	ENSP00000405360:R309W;ENSP00000266980:R309W	ENSP00000266980:R309W	R	+	1	2	SLC39A5	54915731	0.996000	0.38824	0.961000	0.40146	0.988000	0.76386	1.198000	0.32223	2.372000	0.80975	0.655000	0.94253	CGG		0.632	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		5	421	0	0	0	1	0	5	421				
PDLIM3	27295	broad.mit.edu	37	4	186423556	186423556	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:186423556T>C	ENST00000284770.5	-	8	1060	c.987A>G	c.(985-987)caA>caG	p.Q329Q	PDLIM3_ENST00000284771.6_Silent_p.Q281Q|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	329	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		AGTAGCCCTTTTGCTTGAGGT	0.567																																						ENST00000284770.5																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(985-987)caA>caG		PDZ and LIM domain 3							141.0	125.0	130.0					4																	186423556		2203	4300	6503	SO:0001819	synonymous_variant	27295					sarcomere	zinc ion binding	g.chr4:186423556T>C	AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.987A>G	4.37:g.186423556T>C						PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.Q281Q	p.Q329Q	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)	8	1060	-		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)	329			LIM zinc-binding.		B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	ENST00000284770.5	37	c.987A>G	CCDS3844.1																																																																																				0.567	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360499.2	NM_014476		46	133	0	0	0	1	0	46	133				
PTPRS	5802	broad.mit.edu	37	19	5219973	5219973	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:5219973C>A	ENST00000587303.1	-	21	3841	c.3742G>T	c.(3742-3744)Gcc>Tcc	p.A1248S	PTPRS_ENST00000588012.1_Missense_Mutation_p.A1226S|PTPRS_ENST00000353284.2_Missense_Mutation_p.A817S|PTPRS_ENST00000262963.6_Missense_Mutation_p.A1244S|PTPRS_ENST00000592099.1_Missense_Mutation_p.A817S|PTPRS_ENST00000372412.4_Missense_Mutation_p.A1249S|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1226S|PTPRS_ENST00000357368.4_Missense_Mutation_p.A1248S|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1248					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TGAAGCACGGCAAGCACGAAG	0.622																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(3745-3747)Gcc>Tcc		protein tyrosine phosphatase, receptor type, S							76.0	86.0	82.0					19																	5219973		2202	4298	6500	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5219973C>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3742G>T	19.37:g.5219973C>A	ENSP00000467537:p.Ala1248Ser					PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.A817S|PTPRS_ENST00000588012.1_Missense_Mutation_p.A1226S|PTPRS_ENST00000357368.4_Missense_Mutation_p.A1248S|PTPRS_ENST00000587303.1_Missense_Mutation_p.A1248S|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1226S|PTPRS_ENST00000262963.6_Missense_Mutation_p.A1244S|PTPRS_ENST00000592099.1_Missense_Mutation_p.A817S	p.A1249S			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	22	3978	-			1248					O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.3745G>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071955	0.76301	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.63255	0.15;0.08;0.07;-0.03;0.1	4.06	2.97	0.34412	.	0.000000	0.64402	U	0.000004	T	0.78868	0.4351	M	0.82923	2.615	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.984;1.0;0.984;0.999;1.0	D;D;D;P;D;D	0.91635	0.996;0.918;0.999;0.892;0.998;0.996	T	0.81634	-0.0844	10	0.87932	D	0	.	12.6638	0.56830	0.1665:0.8335:0.0:0.0	.	830;817;821;1226;1248;843	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	S	843;1249;1248;1248;1239;1244;1226;830;821;817	ENSP00000361489:A1249S;ENSP00000349932:A1248S;ENSP00000262963:A1244S;ENSP00000269907:A1226S;ENSP00000327313:A817S	ENSP00000262963:A1244S	A	-	1	0	PTPRS	5170973	1.000000	0.71417	0.777000	0.31699	0.767000	0.43475	7.496000	0.81526	0.862000	0.35528	0.650000	0.86243	GCC		0.622	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			6	270	1	0	0.00198382	1	0.00200201	6	270				
SIPA1	6494	broad.mit.edu	37	11	65413733	65413733	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:65413733C>T	ENST00000394224.3	+	7	1601	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000394227.3_Silent_p.I435I|SIPA1_ENST00000527525.1_Silent_p.I435I|SIPA1_ENST00000534313.1_Silent_p.I435I	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	435	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TTGTGACCATCGTGTTCCAGG	0.612																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(1303-1305)atC>atT		signal-induced proliferation-associated 1							148.0	139.0	142.0					11																	65413733		2201	4297	6498	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65413733C>T	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.1305C>T	11.37:g.65413733C>T						SIPA1_ENST00000527525.1_Silent_p.I435I|SIPA1_ENST00000394227.3_Silent_p.I435I|SIPA1_ENST00000534313.1_Silent_p.I435I	p.I435I	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			7	1601	+			435			Rap-GAP.		O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.1305C>T	CCDS8108.1																																																																																				0.612	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		47	159	0	0	0	1	0	47	159				
ZBTB49	166793	broad.mit.edu	37	4	4317368	4317368	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:4317368C>T	ENST00000337872.4	+	6	1503	c.1382C>T	c.(1381-1383)gCa>gTa	p.A461V	ZBTB49_ENST00000355834.3_Intron|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	461					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(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TCTAGGTTTGCAGCCTCTGGC	0.438																																						ENST00000337872.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(1381-1383)gCa>gTa		zinc finger and BTB domain containing 49							83.0	84.0	84.0					4																	4317368		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4317368C>T	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1382C>T	4.37:g.4317368C>T	ENSP00000338807:p.Ala461Val					ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Intron	p.A461V	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN			6	1503	+			461					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.1382C>T	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	C	39	7.335166	0.98221	.	.	ENSG00000168826	ENST00000337872	T	0.04156	3.69	5.45	5.45	0.79879	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000026	T	0.07369	0.0186	N	0.05158	-0.105	0.80722	D	1	P	0.44090	0.826	P	0.53861	0.736	T	0.54761	-0.8245	10	0.44086	T	0.13	.	19.2829	0.94058	0.0:1.0:0.0:0.0	.	461	Q6ZSB9	ZBT49_HUMAN	V	461	ENSP00000338807:A461V	ENSP00000338807:A461V	A	+	2	0	ZBTB49	4368269	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.085000	0.76875	2.572000	0.86782	0.462000	0.41574	GCA		0.438	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		7	16	0	0	0	1	0	7	16				
SEC14L4	284904	broad.mit.edu	37	22	30887920	30887920	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:30887920C>T	ENST00000255858.7	-	10	895	c.812G>A	c.(811-813)tGc>tAc	p.C271Y	SEC14L4_ENST00000392772.2_Missense_Mutation_p.C217Y|RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000540456.1_Missense_Mutation_p.C256Y|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000381982.3_Missense_Mutation_p.C271Y	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	271	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CACCTGCTCGCACAGGTAGTA	0.617																																						ENST00000392772.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21						c.(649-651)tGc>tAc		SEC14-like 4 (S. cerevisiae)	Vitamin E(DB00163)						61.0	52.0	55.0					22																	30887920		2203	4300	6503	SO:0001583	missense	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30887920C>T	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.812G>A	22.37:g.30887920C>T	ENSP00000255858:p.Cys271Tyr					RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000540456.1_Missense_Mutation_p.C256Y|SEC14L4_ENST00000381982.3_Missense_Mutation_p.C271Y|SEC14L4_ENST00000255858.7_Missense_Mutation_p.C271Y	p.C217Y			Q9UDX3	S14L4_HUMAN			10	927	-			271			CRAL-TRIO.		A5D6W7|A6NCV4	Missense_Mutation	SNP	ENST00000255858.7	37	c.650G>A	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	c	0.677	-0.799713	0.02841	.	.	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	4.12	-0.329	0.12686	Cellular retinaldehyde-binding/triple function, C-terminal (1);GOLD (1);	0.346744	0.30869	N	0.008712	T	0.11965	0.0291	N	0.14661	0.345	0.80722	D	1	B;B;B	0.22276	0.067;0.008;0.026	B;B;B	0.15052	0.011;0.012;0.005	T	0.07908	-1.0748	10	0.54805	T	0.06	-16.9667	6.6022	0.22707	0.0:0.6257:0.1332:0.2412	.	217;256;271	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	Y	271;256;217;271	ENSP00000255858:C271Y;ENSP00000440848:C256Y;ENSP00000376525:C217Y;ENSP00000371412:C271Y	ENSP00000255858:C271Y	C	-	2	0	SEC14L4	29217920	0.013000	0.17824	0.003000	0.11579	0.005000	0.04900	0.106000	0.15354	0.143000	0.18926	-0.229000	0.12294	TGC		0.617	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		6	28	0	0	0	1	0	6	28				
CLC	1178	broad.mit.edu	37	19	40225074	40225074	+	Missense_Mutation	SNP	A	A	T	rs181868405		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:40225074A>T	ENST00000221804.4	-	3	227	c.152T>A	c.(151-153)gTc>gAc	p.V51D		NM_001828.5	NP_001819.2	Q05315	LEG10_HUMAN	Charcot-Leyden crystal galectin	51	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				multicellular organismal development (GO:0007275)|regulation of activated T cell proliferation (GO:0046006)|regulation of T cell anergy (GO:0002667)|regulation of T cell cytokine production (GO:0002724)|T cell apoptotic process (GO:0070231)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		GAAATGGAAGACAATGTCTGA	0.502																																						ENST00000221804.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12						c.(151-153)gTc>gAc		Charcot-Leyden crystal galectin							214.0	183.0	194.0					19																	40225074		2203	4300	6503	SO:0001583	missense	1178				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40225074A>T	L01664	CCDS33025.1	19q13.1	2013-06-12	2013-06-12		ENSG00000105205	ENSG00000105205		"""Lectins, galactoside-binding"""	2014	protein-coding gene	gene with protein product	"""eosinophil lysophospholipase"", ""lysolecithin acylhydrolase"", ""galectin 10"", ""lectin, galactoside-binding, soluble, 10"""	153310	"""Charcot-Leyden crystal protein"""			1577491, 11834744	Standard	NM_001828		Approved	LGALS10, MGC149659, Gal-10	uc002omh.3	Q05315		ENST00000221804.4:c.152T>A	19.37:g.40225074A>T	ENSP00000221804:p.Val51Asp						p.V51D	NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)	3	227	-	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	51			Galectin.		C5HZ13|C5HZ14|Q0VDE3	Missense_Mutation	SNP	ENST00000221804.4	37	c.152T>A	CCDS33025.1	.	.	.	.	.	.	.	.	.	.	.	8.633	0.894122	0.17613	.	.	ENSG00000105205	ENST00000221804	T	0.06218	3.33	1.3	1.3	0.21679	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.03564	0.0102	N	0.24115	0.695	0.09310	N	1	P	0.45634	0.863	B	0.35240	0.198	T	0.40794	-0.9544	9	0.87932	D	0	.	3.8696	0.09031	0.2648:0.0:0.7352:0.0	.	51	Q05315	LPPL_HUMAN	D	51	ENSP00000221804:V51D	ENSP00000221804:V51D	V	-	2	0	CLC	44916914	0.637000	0.27216	0.007000	0.13788	0.013000	0.08279	0.597000	0.24059	-0.127000	0.11661	-0.684000	0.03749	GTC		0.502	CLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465225.1	NM_001828		47	169	0	0	0	1	0	47	169				
PCDHA10	56139	broad.mit.edu	37	5	140237074	140237074	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140237074G>A	ENST00000307360.5	+	1	1441	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A481T|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	481	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A481S(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGTGGGACGCGGACGCGCA	0.662																																						ENST00000307360.5																			2	Substitution - Missense(2)	p.A481S(2)	lung(2)	NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1441-1443)Gcg>Acg									88.0	87.0	87.0					5																	140237074		2196	4273	6469	SO:0001583	missense	56139							g.chr5:140237074G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1441G>A	5.37:g.140237074G>A	ENSP00000304234:p.Ala481Thr					PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A481T|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.A481T	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1441	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1441G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683650	0.47991	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.61859	4.64;0.07	3.74	2.77	0.32553	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.59335	0.2186	L	0.60957	1.885	0.28134	N	0.930071	P;B;D	0.56521	0.849;0.241;0.976	B;B;P	0.50049	0.414;0.135;0.629	T	0.54728	-0.8250	9	0.66056	D	0.02	.	8.7261	0.34469	0.0:0.241:0.6273:0.1317	.	481;481;481	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	T	481	ENSP00000421030:A481T;ENSP00000304234:A481T	ENSP00000304234:A481T	A	+	1	0	PCDHA10	140217258	0.000000	0.05858	1.000000	0.80357	0.634000	0.38068	-0.444000	0.06854	2.077000	0.62373	0.456000	0.33151	GCG		0.662	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		48	201	0	0	0	1	0	48	201				
EPPK1	83481	broad.mit.edu	37	8	144940741	144940741	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:144940741C>T	ENST00000525985.1	-	2	6752	c.6681G>A	c.(6679-6681)gcG>gcA	p.A2227A				P58107	EPIPL_HUMAN	epiplakin 1	2227						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGGACGCCCGCGATGCAGC	0.677																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6679-6681)gcG>gcA		epiplakin 1							76.0	80.0	78.0					8																	144940741		2150	4229	6379	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940741C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6681G>A	8.37:g.144940741C>T							p.A2227A			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6752	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2227					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6681G>A																																																																																					0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		5	203	0	0	0	1	0	5	203				
ZNF792	126375	broad.mit.edu	37	19	35449854	35449854	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:35449854T>C	ENST00000404801.1	-	4	1291	c.905A>G	c.(904-906)aAa>aGa	p.K302R	ZNF792_ENST00000605484.1_Missense_Mutation_p.K235R	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ATTGTGAACTTTCTGGTGTTG	0.468																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(904-906)aAa>aGa		zinc finger protein 792							91.0	86.0	88.0					19																	35449854		2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35449854T>C	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.905A>G	19.37:g.35449854T>C	ENSP00000385099:p.Lys302Arg					ZNF792_ENST00000605484.1_Missense_Mutation_p.K235R	p.K302R	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	1291	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		302					B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.905A>G	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	t	0.007	-2.011340	0.00422	.	.	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.17213	2.29	3.14	-0.163	0.13363	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05502	0.0145	N	0.04275	-0.24	0.21984	N	0.999436	B	0.02656	0.0	B	0.04013	0.001	T	0.41858	-0.9485	9	0.02654	T	1	.	6.4493	0.21894	0.0:0.6113:0.0:0.3887	.	302	Q3KQV3	ZN792_HUMAN	R	302;62	ENSP00000385099:K302R	ENSP00000368487:K62R	K	-	2	0	ZNF792	40141694	0.000000	0.05858	0.155000	0.22561	0.184000	0.23303	-0.306000	0.08178	0.030000	0.15379	-0.468000	0.05107	AAA		0.468	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		4	39	0	0	0	1	0	4	39				
FOLH1	2346	broad.mit.edu	37	11	49207285	49207285	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:49207285C>A	ENST00000256999.2	-	6	1022	c.762G>T	c.(760-762)caG>caT	p.Q254H	FOLH1_ENST00000356696.3_Missense_Mutation_p.Q254H|FOLH1_ENST00000340334.7_Missense_Mutation_p.Q239H|FOLH1_ENST00000533034.1_Missense_Mutation_p.Q239H|FOLH1_ENST00000343844.4_Intron	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	254					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TATTTCCACGCTGGACACCAC	0.483																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(715-717)caG>caT		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						51.0	58.0	56.0					11																	49207285		2201	4297	6498	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49207285C>A	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.762G>T	11.37:g.49207285C>A	ENSP00000256999:p.Gln254His					FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Missense_Mutation_p.Q239H|FOLH1_ENST00000356696.3_Missense_Mutation_p.Q254H|FOLH1_ENST00000256999.2_Missense_Mutation_p.Q254H	p.Q239H	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			7	1085	-			254					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.717G>T	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041972	0.55003	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.06608	3.28;3.28;3.28;3.28	3.01	0.995	0.19838	Protease-associated domain, PA (1);	0.000000	0.48767	D	0.000176	T	0.32556	0.0833	H	0.97918	4.105	0.80722	D	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;0.998;0.999	T	0.05852	-1.0860	10	0.87932	D	0	.	5.5844	0.17267	0.0:0.6056:0.0:0.3944	.	239;239;254;254	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	H	254;254;239;239;254	ENSP00000256999:Q254H;ENSP00000349129:Q254H;ENSP00000344131:Q239H;ENSP00000431463:Q239H	ENSP00000256999:Q254H	Q	-	3	2	FOLH1	49163861	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.098000	0.31000	0.136000	0.18733	0.400000	0.26472	CAG		0.483	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		16	59	1	0	4.96729e-08	1	5.11586e-08	16	59				
SLC5A9	200010	broad.mit.edu	37	1	48694628	48694628	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:48694628T>C	ENST00000438567.2	+	3	391		c.e3+2		SLC5A9_ENST00000236495.5_Splice_Site|SLC5A9_ENST00000533824.1_Splice_Site|SLC5A9_ENST00000420136.2_Splice_Site|RP5-1024N4.4_ENST00000606809.1_RNA	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9						sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GAGTGGAACGTAAGGAAGCTG	0.582																																						ENST00000236495.5																			0				breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						c.e3+2		solute carrier family 5 (sodium/sugar cotransporter), member 9							73.0	75.0	74.0					1																	48694628		2203	4300	6503	SO:0001630	splice_region_variant	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48694628T>C	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.339+2T>C	1.37:g.48694628T>C						SLC5A9_ENST00000438567.2_Splice_Site|SLC5A9_ENST00000420136.2_Splice_Site|SLC5A9_ENST00000533824.1_Splice_Site|RP5-1024N4.4_ENST00000606809.1_RNA		NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN			3	389	+								B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Splice_Site	SNP	ENST00000438567.2	37		CCDS30709.2	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174002	0.78452	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495;ENST00000420136	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1067	0.72326	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC5A9	48467215	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	6.062000	0.71155	2.231000	0.72958	0.455000	0.32223	.		0.582	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174	Intron	26	76	0	0	0	1	0	26	76				
HERPUD2	64224	broad.mit.edu	37	7	35709871	35709871	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:35709871C>T	ENST00000396081.1	-	3	1097	c.293G>A	c.(292-294)aGc>aAc	p.S98N	HERPUD2_ENST00000426180.1_5'Flank|HERPUD2_ENST00000311350.3_Missense_Mutation_p.S98N	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	98	Ser-rich.				response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TCTATTGGTGCTGGATTTTGG	0.383																																						ENST00000396081.1																			0				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						c.(292-294)aGc>aAc		HERPUD family member 2							149.0	140.0	143.0					7																	35709871		2203	4300	6503	SO:0001583	missense	64224				response to unfolded protein	integral to membrane		g.chr7:35709871C>T	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.293G>A	7.37:g.35709871C>T	ENSP00000379390:p.Ser98Asn					HERPUD2_ENST00000311350.3_Missense_Mutation_p.S98N	p.S98N	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN			3	1097	-			98			Ser-rich.		A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	37	c.293G>A	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.785166	0.49997	.	.	ENSG00000122557	ENST00000396081;ENST00000311350;ENST00000413517	T;T;T	0.24350	2.64;2.64;1.86	5.66	4.79	0.61399	.	0.429556	0.30011	N	0.010634	T	0.13841	0.0335	N	0.08118	0	0.28947	N	0.890658	B	0.02656	0.0	B	0.01281	0.0	T	0.09662	-1.0664	10	0.39692	T	0.17	-17.2812	11.5957	0.50972	0.0:0.8571:0.0:0.1429	.	98	Q9BSE4	HERP2_HUMAN	N	98;98;72	ENSP00000379390:S98N;ENSP00000310729:S98N;ENSP00000391015:S72N	ENSP00000310729:S98N	S	-	2	0	HERPUD2	35676396	1.000000	0.71417	0.721000	0.30653	0.991000	0.79684	1.122000	0.31295	1.408000	0.46895	0.460000	0.39030	AGC		0.383	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		19	70	0	0	0	1	0	19	70				
ANGPT1	284	broad.mit.edu	37	8	108315570	108315570	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:108315570C>A	ENST00000520734.1	-	4	519	c.234G>T	c.(232-234)gaG>gaT	p.E78D	ANGPT1_ENST00000520052.1_Missense_Mutation_p.E77D|ANGPT1_ENST00000518386.1_Intron			Q15389	ANGP1_HUMAN	angiopoietin 1	278					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GTTTCTCTTCCTCTCTTTTTC	0.313																																						ENST00000520734.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43						c.(232-234)gaG>gaT		angiopoietin 1							90.0	100.0	96.0					8																	108315570		2202	4300	6502	SO:0001583	missense	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108315570C>A	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.234G>T	8.37:g.108315570C>A	ENSP00000430750:p.Glu78Asp					ANGPT1_ENST00000520052.1_Missense_Mutation_p.E77D|ANGPT1_ENST00000518386.1_Intron	p.E78D			Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		4	519	-	Breast(1;5.06e-08)		278					Q5HYA0	Missense_Mutation	SNP	ENST00000520734.1	37	c.234G>T		.	.	.	.	.	.	.	.	.	.	C	10.04	1.240231	0.22711	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000395820;ENST00000520734;ENST00000520052	T;T;T;T	0.54675	0.56;0.89;0.57;0.59	4.45	3.56	0.40772	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.236108	0.45361	D	0.000368	T	0.29389	0.0732	N	0.13235	0.315	0.48236	D	0.999619	B;B;B	0.11235	0.001;0.004;0.004	B;B;B	0.12837	0.003;0.008;0.008	T	0.05818	-1.0862	10	0.13853	T	0.58	.	7.0739	0.25193	0.0:0.6529:0.0:0.3471	.	77;278;278	E7ERK4;Q5HYA0;Q15389	.;.;ANGP1_HUMAN	D	278;277;90;78;77	ENSP00000428340:E278D;ENSP00000297450:E277D;ENSP00000430750:E78D;ENSP00000429349:E77D	ENSP00000297450:E277D	E	-	3	2	ANGPT1	108384746	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.490000	0.22403	1.053000	0.40415	0.650000	0.86243	GAG		0.313	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		23	89	1	0	1.10923e-09	1	1.14765e-09	23	89				
PCDHB13	56123	broad.mit.edu	37	5	140595076	140595076	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140595076C>T	ENST00000341948.4	+	1	1568	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	461	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGTTCGTCCGCGAGAACAA	0.602																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1381-1383)Cgc>Tgc									120.0	122.0	121.0					5																	140595076		2203	4298	6501	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595076C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1381C>T	5.37:g.140595076C>T	ENSP00000345491:p.Arg461Cys						p.R461C	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1568	+			461			Cadherin 5.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.1381C>T	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	N	15.02	2.710338	0.48517	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.01767	4.65	3.5	2.38	0.29361	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.05273	0.0140	M	0.85373	2.75	0.09310	N	1	P	0.43094	0.799	B	0.43251	0.413	T	0.13255	-1.0516	9	0.66056	D	0.02	.	11.8187	0.52226	0.2332:0.7668:0.0:0.0	.	461	Q9Y5F0	PCDBD_HUMAN	C	461	ENSP00000345491:R461C	ENSP00000345491:R461C	R	+	1	0	PCDHB13	140575260	0.000000	0.05858	0.099000	0.21106	0.542000	0.35054	-0.130000	0.10498	1.671000	0.50874	0.298000	0.19748	CGC		0.602	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		6	359	0	0	0	1	0	6	359				
ITGAL	3683	broad.mit.edu	37	16	30495265	30495265	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30495265C>T	ENST00000356798.6	+	8	1020	c.840C>T	c.(838-840)atC>atT	p.I280I	ITGAL_ENST00000358164.5_Silent_p.I197I|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000454514.2_3'UTR|RP11-297C4.3_ENST00000562525.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA|RNU7-61P_ENST00000515897.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	280	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	AAGACATCATCCGCTACATCA	0.582																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(838-840)atC>atT		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						183.0	159.0	167.0					16																	30495265		2197	4300	6497	SO:0001819	synonymous_variant	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30495265C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.840C>T	16.37:g.30495265C>T						RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.I197I	p.I280I	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			8	1020	+			280			VWFA.		O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.840C>T	CCDS32433.1																																																																																				0.582	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			84	215	0	0	0	1	0	84	215				
SGCE	8910	broad.mit.edu	37	7	94252690	94252690	+	Missense_Mutation	SNP	C	C	T	rs548306335	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:94252690C>T	ENST00000265735.7	-	4	520	c.410G>A	c.(409-411)cGc>cAc	p.R137H	SGCE_ENST00000415788.2_Missense_Mutation_p.R173H|SGCE_ENST00000428696.2_Missense_Mutation_p.R137H|SGCE_ENST00000437425.2_Missense_Mutation_p.R96H|SGCE_ENST00000445866.2_Missense_Mutation_p.R137H|SGCE_ENST00000447873.1_Missense_Mutation_p.R137H	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	137					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTCAAAGGTGCGCCTGTTGTA	0.274													C|||	4	0.000798722	0.0	0.0	5008	,	,		15357	0.0		0.0	False		,,,				2504	0.0041					ENST00000415788.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14						c.(517-519)cGc>cAc		sarcoglycan, epsilon							40.0	40.0	40.0					7																	94252690		2202	4283	6485	SO:0001583	missense	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94252690C>T	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.410G>A	7.37:g.94252690C>T	ENSP00000265735:p.Arg137His					SGCE_ENST00000265735.7_Missense_Mutation_p.R137H|SGCE_ENST00000445866.2_Missense_Mutation_p.R137H|SGCE_ENST00000428696.2_Missense_Mutation_p.R137H|SGCE_ENST00000437425.2_Missense_Mutation_p.R96H|SGCE_ENST00000447873.1_Missense_Mutation_p.R137H	p.R173H			O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		5	605	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		137					B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	c.518G>A	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588957	0.86851	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49;-4.49;-4.49	5.35	5.35	0.76521	Dystroglycan-type cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.98251	0.9421	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.99;0.997;0.999;1.0	D;P;D;D;D	0.83275	0.982;0.708;0.956;0.967;0.996	D	0.98276	1.0506	10	0.41790	T	0.15	-24.9781	19.4362	0.94796	0.0:1.0:0.0:0.0	.	173;96;137;137;137	B7Z2R4;E9PEH6;E9PF60;G5E9K6;O43556	.;.;.;.;SGCE_HUMAN	H	137;137;96;137;137;173	ENSP00000265735:R137H;ENSP00000398930:R137H;ENSP00000394061:R96H;ENSP00000388734:R137H;ENSP00000397536:R137H;ENSP00000405313:R173H	ENSP00000265735:R137H	R	-	2	0	SGCE	94090626	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.294000	0.78760	2.677000	0.91161	0.650000	0.86243	CGC		0.274	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			9	34	0	0	0	1	0	9	34				
PCDHGC5	56097	broad.mit.edu	37	5	140869557	140869557	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140869557A>G	ENST00000252087.1	+	1	750	c.750A>G	c.(748-750)ggA>ggG	p.G250G	PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	250	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACGTGTGGGAATCCCAGAGA	0.547																																						ENST00000252087.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(748-750)ggA>ggG									176.0	179.0	178.0					5																	140869557		2203	4300	6503	SO:0001819	synonymous_variant	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140869557A>G	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.750A>G	5.37:g.140869557A>G						PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA6_ENST00000517434.1_Intron	p.G250G	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	750	+			250			Cadherin 3.		Q9Y5C2	Silent	SNP	ENST00000252087.1	37	c.750A>G	CCDS4263.1																																																																																				0.547	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		6	304	0	0	0	1	0	6	304				
OR2T1	26696	broad.mit.edu	37	1	248570264	248570264	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:248570264C>T	ENST00000366474.1	+	1	969	c.969C>T	c.(967-969)gtC>gtT	p.V323V		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	323						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGACAAAGTCCTCTCTGTGT	0.522																																						ENST00000366474.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(967-969)gtC>gtT		olfactory receptor, family 2, subfamily T, member 1							201.0	187.0	191.0					1																	248570264		2203	4300	6503	SO:0001819	synonymous_variant	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248570264C>T	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.969C>T	1.37:g.248570264C>T							p.V323V	NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	969	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		323					Q6IEZ9	Silent	SNP	ENST00000366474.1	37	c.969C>T	CCDS31115.1																																																																																				0.522	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			37	132	0	0	0	1	0	37	132				
PRKD1	5587	broad.mit.edu	37	14	30108090	30108090	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:30108090C>T	ENST00000331968.5	-	5	946	c.717G>A	c.(715-717)tcG>tcA	p.S239S	PRKD1_ENST00000415220.2_Silent_p.S247S|PRKD1_ENST00000551644.1_5'UTR	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	239					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GACCAATAAACGACTCTGATG	0.338																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(715-717)tcG>tcA		protein kinase D1							77.0	79.0	78.0					14																	30108090		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30108090C>T		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.717G>A	14.37:g.30108090C>T						PRKD1_ENST00000415220.2_Silent_p.S247S|PRKD1_ENST00000551644.1_5'UTR	p.S239S	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	5	946	-	Hepatocellular(127;0.0604)		239					A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.717G>A	CCDS9637.1																																																																																				0.338	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		16	51	0	0	0	1	0	16	51				
PRPF8	10594	broad.mit.edu	37	17	1579861	1579861	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:1579861G>T	ENST00000572621.1	-	15	2591	c.2326C>A	c.(2326-2328)Ctg>Atg	p.L776M	PRPF8_ENST00000304992.6_Missense_Mutation_p.L776M			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	776					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGGCGGCCCAGATTCTTTTTA	0.592																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(2326-2328)Ctg>Atg		pre-mRNA processing factor 8							163.0	175.0	171.0					17																	1579861		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1579861G>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.2326C>A	17.37:g.1579861G>T	ENSP00000460348:p.Leu776Met					PRPF8_ENST00000304992.6_Missense_Mutation_p.L776M	p.L776M			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	15	2591	-			776					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.2326C>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.792259	0.70452	.	.	ENSG00000174231	ENST00000304992	D	0.83837	-1.77	6.06	-1.6	0.08426	PROCN (1);	0.000000	0.85682	D	0.000000	D	0.90089	0.6904	M	0.86864	2.845	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	D	0.89538	0.3790	10	0.72032	D	0.01	-8.144	12.1124	0.53846	0.4088:0.0:0.5912:0.0	.	776	Q6P2Q9	PRP8_HUMAN	M	776	ENSP00000304350:L776M	ENSP00000304350:L776M	L	-	1	2	PRPF8	1526611	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	1.871000	0.39539	-0.091000	0.12440	-0.142000	0.14014	CTG		0.592	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			6	450	1	0	0.217242	1	0.217435	6	450				
PRSS22	64063	broad.mit.edu	37	16	2906204	2906204	+	Missense_Mutation	SNP	C	C	T	rs188850412		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2906204C>T	ENST00000161006.3	-	3	225	c.160G>A	c.(160-162)Gag>Aag	p.E54K	LA16c-325D7.1_ENST00000577140.1_RNA|PRSS22_ENST00000574768.1_5'UTR|PRSS22_ENST00000571228.1_Missense_Mutation_p.E54K	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	54	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GTGCTGTCCTCGCCGCCCACA	0.607													c|||	1	0.000199681	0.0	0.0	5008	,	,		16162	0.001		0.0	False		,,,				2504	0.0					ENST00000161006.3																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						c.(160-162)Gag>Aag		protease, serine, 22							70.0	67.0	68.0					16																	2906204		2198	4300	6498	SO:0001583	missense	64063				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2906204C>T	AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"""Serine peptidases / Serine peptidases"""	14368	protein-coding gene	gene with protein product	"""brain-specific serine protease 4"""	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.160G>A	16.37:g.2906204C>T	ENSP00000161006:p.Glu54Lys					PRSS22_ENST00000574768.1_5'UTR|PRSS22_ENST00000571228.1_Missense_Mutation_p.E54K	p.E54K	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN			3	225	-			54			Peptidase S1.		O43342|Q6UXE0	Missense_Mutation	SNP	ENST00000161006.3	37	c.160G>A	CCDS10481.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	12.78	2.039316	0.35989	.	.	ENSG00000005001	ENST00000161006	D	0.88586	-2.4	4.86	-2.94	0.05581	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.239811	0.29106	N	0.013134	T	0.78194	0.4245	L	0.28344	0.845	0.09310	N	1	P	0.44429	0.835	B	0.39935	0.314	T	0.72865	-0.4163	10	0.27785	T	0.31	.	12.3114	0.54929	0.0:0.6287:0.2905:0.0808	.	54	Q9GZN4	BSSP4_HUMAN	K	54	ENSP00000161006:E54K	ENSP00000161006:E54K	E	-	1	0	PRSS22	2846205	0.000000	0.05858	0.070000	0.20053	0.436000	0.31835	-1.664000	0.01966	-0.251000	0.09542	-0.568000	0.04159	GAG		0.607	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119		19	68	0	0	0	1	0	19	68				
CCDC180	100499483	broad.mit.edu	37	9	100074394	100074394	+	Splice_Site	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:100074394G>T	ENST00000357054.1	+	18	1744		c.e18-1		CCDC180_ENST00000375202.2_Splice_Site|CCDC180_ENST00000529487.1_Splice_Site|CCDC180_ENST00000411667.2_Splice_Site|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Splice_Site|CCDC180_ENST00000460482.2_Splice_Site			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TTGTGTCTCAGGGAAAAGGAA	0.552																																						ENST00000375202.2																			0											c.e18-1		coiled-coil domain containing 180							99.0	103.0	101.0					9																	100074394		2203	4300	6503	SO:0001630	splice_region_variant	100499483							g.chr9:100074394G>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.810-1G>T	9.37:g.100074394G>T						RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Splice_Site|CCDC180_ENST00000357054.1_Splice_Site|CCDC180_ENST00000411667.2_Splice_Site|CCDC180_ENST00000460482.2_Splice_Site|CCDC180_ENST00000529487.1_Splice_Site								18	1744	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Splice_Site	SNP	ENST00000357054.1	37			.	.	.	.	.	.	.	.	.	.	G	19.42	3.824960	0.71143	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9365	0.70960	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C9orf174	99114215	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.801000	0.62532	2.808000	0.96608	0.655000	0.94253	.		0.552	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	Intron	14	169	1	0	7.93312e-07	1	8.13695e-07	14	169				
CCDC37	348807	broad.mit.edu	37	3	126138545	126138545	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:126138545T>C	ENST00000352312.1	+	9	896	c.797T>C	c.(796-798)cTg>cCg	p.L266P	CCDC37_ENST00000393425.1_Missense_Mutation_p.L267P|CCDC37_ENST00000505024.1_Missense_Mutation_p.L267P	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	266										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CTATACAAGCTGTCGCCCAAG	0.493																																						ENST00000393425.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.(799-801)cTg>cCg		coiled-coil domain containing 37							74.0	77.0	76.0					3																	126138545		2203	4300	6503	SO:0001583	missense	348807							g.chr3:126138545T>C	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.797T>C	3.37:g.126138545T>C	ENSP00000344749:p.Leu266Pro					CCDC37_ENST00000505024.1_Missense_Mutation_p.L267P|CCDC37_ENST00000352312.1_Missense_Mutation_p.L266P	p.L267P			Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	9	899	+			266					D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	ENST00000352312.1	37	c.800T>C	CCDS3037.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.592376	0.66219	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.19532	2.14;2.14;2.14	4.47	4.47	0.54385	.	0.166636	0.40640	N	0.001058	T	0.49541	0.1563	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.983;0.99	T	0.57694	-0.7767	10	0.87932	D	0	-6.6787	11.7589	0.51890	0.0:0.0:0.0:1.0	.	267;266	Q494V2-2;Q494V2	.;CCD37_HUMAN	P	266;267;267	ENSP00000344749:L266P;ENSP00000377076:L267P;ENSP00000423046:L267P	ENSP00000344749:L266P	L	+	2	0	CCDC37	127621235	1.000000	0.71417	0.998000	0.56505	0.806000	0.45545	6.932000	0.75869	1.880000	0.54463	0.383000	0.25322	CTG		0.493	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		4	110	0	0	0	1	0	4	110				
HIVEP3	59269	broad.mit.edu	37	1	41976694	41976694	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:41976694G>A	ENST00000372583.1	-	9	7534	c.6649C>T	c.(6649-6651)Ccc>Tcc	p.P2217S	HIVEP3_ENST00000372584.1_Missense_Mutation_p.P2216S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P2217S|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P2216S	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2217					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCTGCGGTGGGCCCTGGCAGC	0.706																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(6646-6648)Ccc>Tcc		human immunodeficiency virus type I enhancer binding protein 3							43.0	50.0	48.0					1																	41976694		2201	4298	6499	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41976694G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6649C>T	1.37:g.41976694G>A	ENSP00000361664:p.Pro2217Ser					HIVEP3_ENST00000372583.1_Missense_Mutation_p.P2217S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P2216S|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P2217S	p.P2216S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			8	7660	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2217					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.6646C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282564	0.23392	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06608	3.28;3.31;3.31;3.28	4.95	1.91	0.25777	.	0.622567	0.14384	N	0.322940	T	0.03783	0.0107	N	0.24115	0.695	0.34637	D	0.720235	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.33189	-0.9878	10	0.22109	T	0.4	-8.2934	4.017	0.09649	0.302:0.1931:0.5049:0.0	.	2216;2217	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	S	2216;2217;2217;2216	ENSP00000361665:P2216S;ENSP00000361664:P2217S;ENSP00000247584:P2217S;ENSP00000410828:P2216S	ENSP00000247584:P2217S	P	-	1	0	HIVEP3	41749281	0.752000	0.28338	0.890000	0.34922	0.547000	0.35210	1.130000	0.31393	0.680000	0.31366	0.561000	0.74099	CCC		0.706	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		37	82	0	0	0	1	0	37	82				
SKIV2L	6499	broad.mit.edu	37	6	31937436	31937436	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:31937436G>A	ENST00000375394.2	+	28	3798	c.3685G>A	c.(3685-3687)Gcg>Acg	p.A1229T	DXO_ENST00000478221.1_5'Flank|STK19_ENST00000375331.2_5'Flank|STK19_ENST00000375333.2_5'Flank|SKIV2L_ENST00000544581.1_Missense_Mutation_p.A1036T	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1229					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GATGGAGACAGCGGCTACCTT	0.582																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(3685-3687)Gcg>Acg		superkiller viralicidic activity 2-like (S. cerevisiae)							75.0	81.0	79.0					6																	31937436		1510	2709	4219	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31937436G>A		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.3685G>A	6.37:g.31937436G>A	ENSP00000364543:p.Ala1229Thr					SKIV2L_ENST00000544581.1_Missense_Mutation_p.A1036T	p.A1229T	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			28	3798	+			1229					O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.3685G>A	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942689	0.92526	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.32272	1.46;1.46	5.52	5.52	0.82312	DSH, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	M	0.64404	1.975	0.80722	D	1	P	0.42296	0.775	B	0.43701	0.428	T	0.13495	-1.0507	10	0.87932	D	0	-16.1086	18.2456	0.89984	0.0:0.0:1.0:0.0	.	1229	Q15477	SKIV2_HUMAN	T	1229;1071;1036	ENSP00000364543:A1229T;ENSP00000442645:A1036T	ENSP00000364543:A1229T	A	+	1	0	SKIV2L	32045415	1.000000	0.71417	0.980000	0.43619	0.985000	0.73830	6.487000	0.73633	2.595000	0.87683	0.655000	0.94253	GCG		0.582	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			8	115	0	0	0	1	0	8	115				
COMMD2	51122	broad.mit.edu	37	3	149470050	149470050	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:149470050G>A	ENST00000473414.1	-	2	146	c.92C>T	c.(91-93)gCt>gTt	p.A31V		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	31										NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GAATTCCACAGCAATCCGCCC	0.602																																						ENST00000473414.1																			0				NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(91-93)gCt>gTt		COMM domain containing 2							92.0	101.0	98.0					3																	149470050		2203	4300	6503	SO:0001583	missense	51122						protein binding	g.chr3:149470050G>A	AY542158	CCDS3145.1	3q25.1	2004-02-20			ENSG00000114744	ENSG00000114744			24993	protein-coding gene	gene with protein product						15799966	Standard	NM_016094		Approved	HSPC042	uc003exj.2	Q86X83	OTTHUMG00000159616	ENST00000473414.1:c.92C>T	3.37:g.149470050G>A	ENSP00000419475:p.Ala31Val						p.A31V	NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		2	146	-			31					Q561V4|Q9H3L5|Q9Y5V1	Missense_Mutation	SNP	ENST00000473414.1	37	c.92C>T	CCDS3145.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911229	0.92178	.	.	ENSG00000114744	ENST00000473414	T	0.08008	3.14	5.48	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.32882	0.0844	M	0.87180	2.865	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.23833	-1.0177	10	0.31617	T	0.26	-0.1077	15.8786	0.79185	0.0:0.136:0.864:0.0	.	31	Q86X83	COMD2_HUMAN	V	31	ENSP00000419475:A31V	ENSP00000419475:A31V	A	-	2	0	COMMD2	150952740	1.000000	0.71417	0.989000	0.46669	0.778000	0.44026	7.478000	0.81082	1.306000	0.44926	0.561000	0.74099	GCT		0.602	COMMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356515.1	NM_016094		9	168	0	0	0	1	0	9	168				
CNNM3	26505	broad.mit.edu	37	2	97490844	97490844	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:97490844C>T	ENST00000305510.3	+	2	1303	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G	CNNM3_ENST00000377060.3_Intron|ANKRD23_ENST00000476975.1_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	425	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						AGGGTGAAGGCGACCCCTTCT	0.607																																						ENST00000305510.3																			0				NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						c.(1273-1275)ggC>ggT		cyclin M3							91.0	69.0	76.0					2																	97490844		2203	4300	6503	SO:0001819	synonymous_variant	26505				ion transport	integral to membrane|plasma membrane	protein binding	g.chr2:97490844C>T	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1275C>T	2.37:g.97490844C>T						CNNM3_ENST00000377060.3_Intron|ANKRD23_ENST00000476975.1_Intron	p.G425G	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN			2	1303	+			425			CBS 2.		B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Silent	SNP	ENST00000305510.3	37	c.1275C>T	CCDS2025.1																																																																																				0.607	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		14	51	0	0	0	1	0	14	51				
LONRF1	91694	broad.mit.edu	37	8	12595535	12595535	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:12595535G>A	ENST00000398246.3	-	4	1151	c.1082C>T	c.(1081-1083)tCt>tTt	p.S361F	LONRF1_ENST00000533751.1_Missense_Mutation_p.S4F|LONRF1_ENST00000530693.1_5'Flank	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	361							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GAGAGACTGAGACTCTTCCAT	0.398																																						ENST00000398246.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1081-1083)tCt>tTt		LON peptidase N-terminal domain and ring finger 1							116.0	104.0	108.0					8																	12595535		1866	4112	5978	SO:0001583	missense	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12595535G>A	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1082C>T	8.37:g.12595535G>A	ENSP00000381298:p.Ser361Phe					LONRF1_ENST00000533751.1_Missense_Mutation_p.S4F	p.S361F	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	4	1151	-			361					B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	ENST00000398246.3	37	c.1082C>T	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	G	8.907	0.957693	0.18507	.	.	ENSG00000154359	ENST00000398246;ENST00000533751	T;T	0.80566	0.9;-1.39	5.35	3.52	0.40303	.	0.795982	0.09279	U	0.824088	T	0.67646	0.2915	N	0.14661	0.345	0.19575	N	0.999962	B	0.10296	0.003	B	0.06405	0.002	T	0.57969	-0.7719	10	0.59425	D	0.04	-3.9433	9.9884	0.41856	0.0738:0.1382:0.788:0.0	.	361	Q17RB8	LONF1_HUMAN	F	361;4	ENSP00000381298:S361F;ENSP00000432130:S4F	ENSP00000381298:S361F	S	-	2	0	LONRF1	12639906	0.999000	0.42202	0.027000	0.17364	0.623000	0.37688	3.116000	0.50399	0.870000	0.35726	0.655000	0.94253	TCT		0.398	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		28	92	0	0	0	1	0	28	92				
LUZP2	338645	broad.mit.edu	37	11	25004699	25004699	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:25004699A>G	ENST00000336930.6	+	9	691	c.625A>G	c.(625-627)Act>Gct	p.T209A	LUZP2_ENST00000533227.1_Missense_Mutation_p.T123A			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	209						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AATGAAAGAGACTGTGCAGCT	0.418																																						ENST00000533227.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(367-369)Act>Gct		leucine zipper protein 2							207.0	176.0	187.0					11																	25004699		2203	4300	6503	SO:0001583	missense	338645					extracellular region		g.chr11:25004699A>G	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.625A>G	11.37:g.25004699A>G	ENSP00000336817:p.Thr209Ala					LUZP2_ENST00000336930.6_Missense_Mutation_p.T209A	p.T123A	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN			9	654	+			209					A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	c.367A>G	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.401670	0.83120	.	.	ENSG00000187398	ENST00000336930;ENST00000529015;ENST00000533227	T;T;T	0.24908	1.83;1.83;1.83	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.40094	0.1103	L	0.34521	1.04	0.38276	D	0.942301	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.41378	-0.9512	10	0.87932	D	0	-15.9794	13.8993	0.63792	1.0:0.0:0.0:0.0	.	123;209	E9PN53;Q86TE4	.;LUZP2_HUMAN	A	209;167;123	ENSP00000336817:T209A;ENSP00000437032:T167A;ENSP00000432952:T123A	ENSP00000336817:T209A	T	+	1	0	LUZP2	24961275	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.068000	0.76748	2.236000	0.73375	0.528000	0.53228	ACT		0.418	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		29	98	0	0	0	1	0	29	98				
BAGE2	85319	broad.mit.edu	37	21	11049553	11049553	+	RNA	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:11049553T>G	ENST00000470054.1	-	0	555							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGACCACAAGTAGTACAAAAG	0.448																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							96.0	61.0	71.0					21																	11049553		692	1580	2272			85319							g.chr21:11049553T>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049553T>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	555	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.448	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		6	179	0	0	0	1	0	6	179				
JUP	3728	broad.mit.edu	37	17	39914749	39914749	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:39914749T>C	ENST00000393931.3	-	10	1793	c.1675A>G	c.(1675-1677)Att>Gtt	p.I559V	JUP_ENST00000393930.1_Missense_Mutation_p.I559V|JUP_ENST00000310706.5_Missense_Mutation_p.I559V|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	559					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CCCTCCACAATCTCCTCCATC	0.602																																					Colon(16;42 520 6044 17852 28530)	ENST00000393931.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1675-1677)Att>Gtt		junction plakoglobin							59.0	44.0	49.0					17																	39914749		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39914749T>C	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.1675A>G	17.37:g.39914749T>C	ENSP00000377508:p.Ile559Val					JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Missense_Mutation_p.I559V|JUP_ENST00000310706.5_Missense_Mutation_p.I559V	p.I559V	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	10	1793	-		Breast(137;0.000162)	559					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.1675A>G	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231145	0.79688	.	.	ENSG00000173801	ENST00000393930;ENST00000310706;ENST00000393931	T;T;T	0.64991	-0.13;-0.13;-0.13	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59702	0.2213	M	0.62154	1.92	0.80722	D	1	P	0.42827	0.791	B	0.38500	0.275	T	0.63175	-0.6696	10	0.41790	T	0.15	-20.3341	14.7708	0.69675	0.0:0.0:0.0:1.0	.	559	P14923	PLAK_HUMAN	V	559	ENSP00000377507:I559V;ENSP00000311113:I559V;ENSP00000377508:I559V	ENSP00000311113:I559V	I	-	1	0	JUP	37168275	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	7.760000	0.85248	2.271000	0.75665	0.459000	0.35465	ATT		0.602	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			14	42	0	0	0	1	0	14	42				
IRX2	153572	broad.mit.edu	37	5	2749790	2749790	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:2749790C>T	ENST00000382611.6	-	2	609	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.A121T|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000397835.4_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	121					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TCCCGCGTGGCGTTCTTGCGG	0.662																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(361-363)Gcc>Acc		iroquois homeobox 2							127.0	100.0	109.0					5																	2749790		2203	4300	6503	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749790C>T	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.361G>A	5.37:g.2749790C>T	ENSP00000372056:p.Ala121Thr					IRX2_ENST00000302057.5_Missense_Mutation_p.A121T|IRX2_ENST00000502957.1_5'UTR	p.A121T	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	609	-			121					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.361G>A	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	C	36	5.821883	0.96989	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	D;D;D	0.83591	-1.74;-1.74;-1.74	4.85	4.85	0.62838	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.90943	0.7153	M	0.82193	2.58	0.80722	D	1	D	0.64830	0.994	P	0.62298	0.9	D	0.92491	0.6000	10	0.72032	D	0.01	-22.6154	17.9697	0.89110	0.0:1.0:0.0:0.0	.	121	Q9BZI1	IRX2_HUMAN	T	121;121;28	ENSP00000372056:A121T;ENSP00000307006:A121T;ENSP00000426151:A28T	ENSP00000307006:A121T	A	-	1	0	IRX2	2802790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.451000	0.80668	2.239000	0.73571	0.655000	0.94253	GCC		0.662	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			28	75	0	0	0	1	0	28	75				
COL6A3	1293	broad.mit.edu	37	2	238274458	238274458	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:238274458C>T	ENST00000295550.4	-	12	6173	c.5721G>A	c.(5719-5721)caG>caA	p.Q1907Q	COL6A3_ENST00000409809.1_Silent_p.Q1701Q|COL6A3_ENST00000353578.4_Silent_p.Q1701Q|COL6A3_ENST00000472056.1_Silent_p.Q1300Q|COL6A3_ENST00000347401.3_Silent_p.Q1706Q|COL6A3_ENST00000346358.4_Silent_p.Q1707Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1907	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCATCTCTGGCTGGTACTCGT	0.627																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5719-5721)caG>caA		collagen, type VI, alpha 3							78.0	74.0	76.0					2																	238274458		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238274458C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5721G>A	2.37:g.238274458C>T						COL6A3_ENST00000472056.1_Silent_p.Q1300Q|COL6A3_ENST00000353578.4_Silent_p.Q1701Q|COL6A3_ENST00000346358.4_Silent_p.Q1707Q|COL6A3_ENST00000409809.1_Silent_p.Q1701Q|COL6A3_ENST00000347401.3_Silent_p.Q1706Q	p.Q1907Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	12	6173	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1907			Nonhelical region.|VWFA 10.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.5721G>A	CCDS33412.1																																																																																				0.627	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		36	120	0	0	0	1	0	36	120				
CFAP54	144535	broad.mit.edu	37	12	97084908	97084908	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:97084908T>C	ENST00000524981.4	+	44	6107	c.6084T>C	c.(6082-6084)ggT>ggC	p.G2028G				Q96N23	CL055_HUMAN		0																	ATTTTCAGGGTTTGCTTAGAA	0.323																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(1435-1437)ggT>ggC									102.0	98.0	100.0					12																	97084908		2203	4300	6503	SO:0001819	synonymous_variant	144535							g.chr12:97084908T>C																												ENST00000524981.4:c.6084T>C	12.37:g.97084908T>C							p.G479G			Q6ZTY8	CL063_HUMAN			11	1437	+			453						Silent	SNP	ENST00000524981.4	37	c.1437T>C																																																																																					0.323	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			9	44	0	0	0	1	0	9	44				
ATP4A	495	broad.mit.edu	37	19	36050968	36050968	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:36050968C>T	ENST00000262623.3	-	7	823	c.795G>A	c.(793-795)gtG>gtA	p.V265V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	265			V -> A (in dbSNP:rs2733743). {ECO:0000269|PubMed:2160952}.		ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CCAGGCCCTGCACGGTGCCTG	0.657																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(793-795)gtG>gtA		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						39.0	34.0	36.0					19																	36050968		2203	4299	6502	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36050968C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.795G>A	19.37:g.36050968C>T							p.V265V	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		7	823	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		265		V -> A (in dbSNP:rs2733743).			O00738	Silent	SNP	ENST00000262623.3	37	c.795G>A	CCDS12467.1																																																																																				0.657	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		24	58	0	0	0	1	0	24	58				
BRDT	676	broad.mit.edu	37	1	92430262	92430262	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:92430262G>A	ENST00000362005.3	+	4	689	c.271G>A	c.(271-273)Gct>Act	p.A91T	BRDT_ENST00000370389.2_Missense_Mutation_p.A18T|BRDT_ENST00000402388.1_Missense_Mutation_p.A91T|BRDT_ENST00000399546.2_Missense_Mutation_p.A91T|BRDT_ENST00000394530.3_Intron	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	91	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTATGCGAAGGCTTCAGAATG	0.279																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(52-54)Gct>Act		bromodomain, testis-specific							35.0	37.0	36.0					1																	92430262		2191	4277	6468	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92430262G>A	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.271G>A	1.37:g.92430262G>A	ENSP00000354568:p.Ala91Thr					BRDT_ENST00000362005.3_Missense_Mutation_p.A91T|BRDT_ENST00000402388.1_Missense_Mutation_p.A91T|BRDT_ENST00000394530.3_Intron|BRDT_ENST00000399546.2_Missense_Mutation_p.A91T	p.A18T	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	3	976	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	91					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.52G>A	CCDS735.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636904	0.87760	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000423434;ENST00000440509;ENST00000427104;ENST00000448194;ENST00000426141;ENST00000450792;ENST00000548992;ENST00000552654;ENST00000402388	T;T;T;T;T;T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.43	4.49	0.54785	Bromodomain (6);Bromodomain, conserved site (1);	0.179052	0.37906	N	0.001899	T	0.48624	0.1510	M	0.64080	1.96	0.80722	D	1	D;D	0.76494	0.999;0.993	D;P	0.79784	0.993;0.86	T	0.50634	-0.8805	10	0.87932	D	0	-17.7665	14.06	0.64793	0.0:0.0:0.7374:0.2626	.	91;91	B7Z890;Q58F21	.;BRDT_HUMAN	T	91;18;91;91;91;91;91;91;91;91;91;18;91	ENSP00000354568:A91T;ENSP00000359416:A18T;ENSP00000387822:A91T;ENSP00000396351:A91T;ENSP00000416714:A91T;ENSP00000400002:A91T;ENSP00000410587:A91T;ENSP00000404969:A91T;ENSP00000414349:A91T;ENSP00000447394:A91T;ENSP00000446599:A18T;ENSP00000384051:A91T	ENSP00000354568:A91T	A	+	1	0	BRDT	92202850	1.000000	0.71417	0.986000	0.45419	0.913000	0.54294	5.335000	0.65929	2.573000	0.86826	0.650000	0.86243	GCT		0.279	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		13	26	0	0	0	1	0	13	26				
SLC19A1	6573	broad.mit.edu	37	21	46950805	46950805	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:46950805C>T	ENST00000311124.4	-	4	1182	c.1030G>A	c.(1030-1032)Gcc>Acc	p.A344T	SLC19A1_ENST00000485649.2_Missense_Mutation_p.A304T|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A344T|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A344T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	344					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GCCTGCGTGGCCGTGACGCCC	0.692																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(1030-1032)Gcc>Acc		solute carrier family 19 (folate transporter), member 1							17.0	18.0	18.0					21																	46950805		2187	4278	6465	SO:0001583	missense	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46950805C>T	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.1030G>A	21.37:g.46950805C>T	ENSP00000308895:p.Ala344Thr					SLC19A1_ENST00000567670.1_Missense_Mutation_p.A344T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A304T|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A344T	p.A344T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	4	1182	-			344					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.1030G>A	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	c	15.56	2.868332	0.51588	.	.	ENSG00000173638	ENST00000380014;ENST00000311124;ENST00000380010;ENST00000485649	T;T;T	0.81330	-1.48;-1.48;-1.48	3.76	2.86	0.33363	Major facilitator superfamily domain, general substrate transporter (1);	0.305307	0.34386	N	0.004002	D	0.85978	0.5823	M	0.81802	2.56	0.25838	N	0.984097	P;P;D;P	0.53462	0.878;0.878;0.96;0.739	P;P;P;P	0.54965	0.646;0.646;0.765;0.646	T	0.79252	-0.1880	10	0.49607	T	0.09	-14.6729	12.6197	0.56595	0.0:0.8312:0.1688:0.0	.	304;366;344;344	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	T	91;344;344;304	ENSP00000308895:A344T;ENSP00000369347:A344T;ENSP00000441772:A304T	ENSP00000308895:A344T	A	-	1	0	SLC19A1	45775233	0.918000	0.31147	0.001000	0.08648	0.131000	0.20780	4.147000	0.58078	0.858000	0.35431	0.289000	0.19496	GCC		0.692	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			3	14	0	0	0	1	0	3	14				
NSRP1	84081	broad.mit.edu	37	17	28445178	28445178	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:28445178A>G	ENST00000247026.5	+	2	164	c.101A>G	c.(100-102)gAt>gGt	p.D34G	NSRP1_ENST00000584423.1_Missense_Mutation_p.D34G|MIR3184_ENST00000586878.1_RNA|MIR423_ENST00000362201.2_RNA|RP11-1148O4.2_ENST00000582938.1_RNA|NSRP1_ENST00000540900.3_Intron|NSRP1_ENST00000479218.2_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	34	Poly-Asp.				developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						AATGATTCTGATGATGATGAT	0.353																																						ENST00000247026.5																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						c.(100-102)gAt>gGt		nuclear speckle splicing regulatory protein 1							93.0	93.0	93.0					17																	28445178		2203	4300	6503	SO:0001583	missense	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28445178A>G	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.101A>G	17.37:g.28445178A>G	ENSP00000247026:p.Asp34Gly					NSRP1_ENST00000479218.2_3'UTR|NSRP1_ENST00000540900.3_Intron|NSRP1_ENST00000584423.1_Missense_Mutation_p.D34G	p.D34G	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN			2	164	+			34			Poly-Asp.		Q6FI71	Missense_Mutation	SNP	ENST00000247026.5	37	c.101A>G	CCDS11255.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.525795	0.27299	.	.	ENSG00000126653	ENST00000247026	T	0.61274	0.12	3.58	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.71476	0.3344	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.73911	-0.3833	10	0.72032	D	0.01	-14.554	8.814	0.34985	1.0:0.0:0.0:0.0	.	34	Q9H0G5	NSRP1_HUMAN	G	34	ENSP00000247026:D34G	ENSP00000247026:D34G	D	+	2	0	NSRP1	25469304	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.670000	0.61583	1.854000	0.53819	0.459000	0.35465	GAT		0.353	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		35	114	0	0	0	1	0	35	114				
USH2A	7399	broad.mit.edu	37	1	216462747	216462747	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:216462747T>C	ENST00000307340.3	-	11	2232	c.1846A>G	c.(1846-1848)Aac>Gac	p.N616D	USH2A_ENST00000366942.3_Missense_Mutation_p.N616D|USH2A_ENST00000366943.2_Missense_Mutation_p.N616D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	616	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCTCACAGTTCCTTCCTGCA	0.403										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(1846-1848)Aac>Gac		Usher syndrome 2A (autosomal recessive, mild)							146.0	130.0	136.0					1																	216462747		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216462747T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1846A>G	1.37:g.216462747T>C	ENSP00000305941:p.Asn616Asp	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.N616D|USH2A_ENST00000366942.3_Missense_Mutation_p.N616D	p.N616D			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	11	2232	-			616			Laminin EGF-like 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1846A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.649581	0.67358	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.61274	0.12;0.12;0.12	5.43	3.01	0.34805	EGF-like, laminin (4);	0.140383	0.31772	N	0.007087	T	0.58133	0.2101	L	0.52266	1.64	0.43652	D	0.996066	B;P	0.40578	0.409;0.722	B;P	0.45998	0.438;0.5	T	0.59516	-0.7440	10	0.72032	D	0.01	.	12.7032	0.57045	0.0:0.0:0.394:0.606	.	616;616	O75445-2;O75445	.;USH2A_HUMAN	D	616	ENSP00000305941:N616D;ENSP00000355910:N616D;ENSP00000355909:N616D	ENSP00000305941:N616D	N	-	1	0	USH2A	214529370	1.000000	0.71417	0.968000	0.41197	0.998000	0.95712	3.405000	0.52630	0.389000	0.25086	0.455000	0.32223	AAC		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		7	90	0	0	0	1	0	7	90				
SYCP2	10388	broad.mit.edu	37	20	58475270	58475270	+	Missense_Mutation	SNP	A	A	G	rs148122576		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:58475270A>G	ENST00000357552.3	-	18	1552	c.1327T>C	c.(1327-1329)Tcc>Ccc	p.S443P	SYCP2_ENST00000371001.2_Missense_Mutation_p.S443P			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	443					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCCTTTGGGGACTTTGATTTT	0.338																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1327-1329)Tcc>Ccc		synaptonemal complex protein 2							118.0	109.0	112.0					20																	58475270		2202	4300	6502	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58475270A>G	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1327T>C	20.37:g.58475270A>G	ENSP00000350162:p.Ser443Pro					SYCP2_ENST00000371001.2_Missense_Mutation_p.S443P	p.S443P			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		18	1552	-	all_lung(29;0.00344)		443					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.1327T>C	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	A	0.261	-0.999574	0.02128	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.17691	2.53;2.53;2.26	4.3	-8.6	0.00889	.	2.620200	0.01294	N	0.010111	T	0.05868	0.0153	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.25328	-1.0135	10	0.27785	T	0.31	16.7842	1.9451	0.03355	0.4917:0.0926:0.1385:0.2773	.	443;443	A2A341;Q9BX26	.;SYCP2_HUMAN	P	443	ENSP00000360040:S443P;ENSP00000350162:S443P;ENSP00000402456:S443P	ENSP00000350162:S443P	S	-	1	0	SYCP2	57908665	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.000000	0.03693	-2.659000	0.00420	-0.256000	0.11100	TCC		0.338	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		14	51	0	0	0	1	0	14	51				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	71	0	0	0	1	0	4	71				
LRRC37A4P	55073	broad.mit.edu	37	17	43587708	43587708	+	RNA	SNP	A	A	G	rs574499127	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:43587708A>G	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		AACAACCACCATCTCCAAATC	0.348													A|||	33	0.00658946	0.0023	0.0058	5008	,	,		18816	0.002		0.0219	False		,,,				2504	0.002					ENST00000253803.2																			0																																																			100294341							g.chr17:43587708A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587708A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.348	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	106	0	0	0	1	0	4	106				
KIAA2026	158358	broad.mit.edu	37	9	5920253	5920253	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:5920253T>C	ENST00000399933.3	-	8	5742	c.5743A>G	c.(5743-5745)Act>Gct	p.T1915A	KIAA2026_ENST00000381461.2_Missense_Mutation_p.T1885A	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1915										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTTGGATTAGTAGATATAAGG	0.438																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(5743-5745)Act>Gct		KIAA2026							125.0	126.0	126.0					9																	5920253		1878	4101	5979	SO:0001583	missense	158358							g.chr9:5920253T>C	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.5743A>G	9.37:g.5920253T>C	ENSP00000382815:p.Thr1915Ala					KIAA2026_ENST00000381461.2_Missense_Mutation_p.T1885A	p.T1915A	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	5742	-		Acute lymphoblastic leukemia(23;0.158)	1915					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.5743A>G		.	.	.	.	.	.	.	.	.	.	T	12.44	1.939341	0.34189	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.83	3.51	0.40186	.	0.224065	0.30085	N	0.010450	T	0.27866	0.0686	L	0.35288	1.05	0.23421	N	0.997711	B	0.06786	0.001	B	0.11329	0.006	T	0.18713	-1.0328	9	0.41790	T	0.15	-6.847	4.6878	0.12765	0.1372:0.2134:0.0:0.6494	.	1915	Q5HYC2	K2026_HUMAN	A	1915;1885	.	ENSP00000370870:T1885A	T	-	1	0	KIAA2026	5910253	0.982000	0.34865	1.000000	0.80357	0.965000	0.64279	0.262000	0.18460	0.482000	0.27582	0.533000	0.62120	ACT		0.438	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		10	237	0	0	0	1	0	10	237				
TMCC3	57458	broad.mit.edu	37	12	94975823	94975823	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:94975823C>T	ENST00000261226.4	-	2	701	c.570G>A	c.(568-570)ggG>ggA	p.G190G	TMCC3_ENST00000551457.1_Silent_p.G159G	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	190						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TAAGTGAGACCCCTGGCATGC	0.498																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(568-570)ggG>ggA		transmembrane and coiled-coil domain family 3							82.0	88.0	86.0					12																	94975823		2203	4300	6503	SO:0001819	synonymous_variant	57458					integral to membrane		g.chr12:94975823C>T	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.570G>A	12.37:g.94975823C>T						TMCC3_ENST00000551457.1_Silent_p.G159G	p.G190G	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN			2	701	-			190					Q8IWB2	Silent	SNP	ENST00000261226.4	37	c.570G>A	CCDS31877.1																																																																																				0.498	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		43	158	0	0	0	1	0	43	158				
KANK2	25959	broad.mit.edu	37	19	11304261	11304261	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11304261T>C	ENST00000586659.1	-	4	809	c.495A>G	c.(493-495)ccA>ccG	p.P165P	KANK2_ENST00000432929.2_Silent_p.P165P|KANK2_ENST00000355150.5_Silent_p.P165P|KANK2_ENST00000589894.1_Silent_p.P165P|KANK2_ENST00000589359.1_Silent_p.P165P			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	165					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTGTCGGGGGTGGCAACCCCA	0.736																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(493-495)ccA>ccG		KN motif and ankyrin repeat domains 2							10.0	13.0	12.0					19																	11304261		2079	4105	6184	SO:0001819	synonymous_variant	25959							g.chr19:11304261T>C	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.495A>G	19.37:g.11304261T>C						KANK2_ENST00000586659.1_Silent_p.P165P|KANK2_ENST00000589894.1_Silent_p.P165P|KANK2_ENST00000355150.5_Silent_p.P165P|KANK2_ENST00000589359.1_Silent_p.P165P	p.P165P	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	855	-			165					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	c.495A>G	CCDS12255.1																																																																																				0.736	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		12	22	0	0	0	1	0	12	22				
SACS	26278	broad.mit.edu	37	13	23932595	23932595	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:23932595G>A	ENST00000382292.3	-	6	756	c.483C>T	c.(481-483)aaC>aaT	p.N161N	SACS_ENST00000402364.1_De_novo_Start_OutOfFrame|SACS_ENST00000382298.3_Silent_p.N161N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	161					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.N14N(1)|p.N161N(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGAAAACCGCGTTGTTGTACA	0.458																																						ENST00000402364.1																			2	Substitution - coding silent(2)	p.N14N(1)|p.N161N(1)	endometrium(2)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189								spastic ataxia of Charlevoix-Saguenay (sacsin)							121.0	120.0	120.0					13																	23932595		2203	4300	6503	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23932595G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.483C>T	13.37:g.23932595G>A						SACS_ENST00000382298.3_Silent_p.N161N|SACS_ENST00000382292.3_Silent_p.N161N		NM_001278055.1	NP_001264984.1	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	0	566	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)						O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Translation_Start_Site	SNP	ENST00000382292.3	37		CCDS9300.2	.	.	.	.	.	.	.	.	.	.	g	7.071	0.568230	0.13560	.	.	ENSG00000151835	ENST00000455470	.	.	.	5.74	-5.28	0.02755	.	.	.	.	.	T	0.62073	0.2398	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62358	-0.6871	4	.	.	.	.	14.0932	0.65004	0.7418:0.0:0.2582:0.0	.	.	.	.	C	61	.	.	R	-	1	0	SACS	22830595	0.961000	0.32948	0.556000	0.28293	0.680000	0.39746	0.286000	0.18902	-1.243000	0.02519	-1.650000	0.00758	CGC		0.458	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		32	140	0	0	0	1	0	32	140				
SLC35G1	159371	broad.mit.edu	37	10	95658362	95658362	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:95658362C>T	ENST00000427197.1	+	2	274	c.213C>T	c.(211-213)ggC>ggT	p.G71G	SLC35G1_ENST00000371408.3_Silent_p.G70G	NM_001134658.1|NM_153226.2	NP_001128130.1|NP_694958.1	Q2M3R5	S35G1_HUMAN	solute carrier family 35, member G1	71					calcium ion export from cell (GO:1990034)|cytosolic calcium ion homeostasis (GO:0051480)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CTGGACTTGGCTTGTTTTACA	0.388																																						ENST00000371408.3																			0											c.(208-210)ggC>ggT		solute carrier family 35, member G1							265.0	235.0	245.0					10																	95658362		2203	4300	6503	SO:0001819	synonymous_variant	159371					integral to membrane		g.chr10:95658362C>T	AK091309	CCDS7432.1, CCDS44459.1	10q23.33	2013-05-22	2011-08-03	2011-08-03	ENSG00000176273	ENSG00000176273		"""Solute carriers"""	26607	protein-coding gene	gene with protein product			"""transmembrane protein 20"""	TMEM20		21569384	Standard	NM_153226		Approved	FLJ33990, C10orf60	uc001kjg.2	Q2M3R5	OTTHUMG00000018779	ENST00000427197.1:c.213C>T	10.37:g.95658362C>T						SLC35G1_ENST00000427197.1_Silent_p.G71G	p.G70G			Q2M3R5	TMM20_HUMAN			2	271	+			71					Q86YG5|Q8NBA5	Silent	SNP	ENST00000427197.1	37	c.210C>T	CCDS44459.1																																																																																				0.388	SLC35G1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_153226		5	72	0	0	0	1	0	5	72				
PPRC1	23082	broad.mit.edu	37	10	103899296	103899296	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:103899296T>C	ENST00000278070.2	+	5	1070	c.1031T>C	c.(1030-1032)gTa>gCa	p.V344A	PPRC1_ENST00000413464.2_Missense_Mutation_p.V344A|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GAGGGCTGCGTAGTGCTGGAG	0.612																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(1030-1032)gTa>gCa		peroxisome proliferator-activated receptor gamma, coactivator-related 1							117.0	113.0	114.0					10																	103899296		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103899296T>C	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.1031T>C	10.37:g.103899296T>C	ENSP00000278070:p.Val344Ala					PPRC1_ENST00000413464.2_Missense_Mutation_p.V344A	p.V344A	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	1070	+		Colorectal(252;0.122)	344					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.1031T>C	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375411	0.24857	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.52983	0.64;0.64	5.94	4.8	0.61643	.	0.549675	0.18164	N	0.149691	T	0.37999	0.1024	N	0.24115	0.695	0.29205	N	0.874973	B;B;B	0.33694	0.297;0.421;0.297	B;B;B	0.37601	0.129;0.254;0.061	T	0.39313	-0.9620	10	0.62326	D	0.03	.	11.9241	0.52808	0.0:0.0:0.1453:0.8547	.	344;224;344	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	A	344	ENSP00000278070:V344A;ENSP00000399743:V344A	ENSP00000278070:V344A	V	+	2	0	PPRC1	103889286	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	2.948000	0.49066	1.065000	0.40693	-0.429000	0.05907	GTA		0.612	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		6	273	0	0	0	1	0	6	273				
SLC37A4	2542	broad.mit.edu	37	11	118898461	118898461	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:118898461G>A	ENST00000545985.1	-	5	1259	c.503C>T	c.(502-504)aCg>aTg	p.T168M	SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000330775.7_Missense_Mutation_p.T168M|SLC37A4_ENST00000538950.1_Missense_Mutation_p.T95M|SLC37A4_ENST00000357590.5_Missense_Mutation_p.T168M	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	168					carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphate transmembrane transporter activity (GO:0015152)|transporter activity (GO:0005215)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		TAGGGCCAGCGTGCTGCGCCA	0.607																																						ENST00000545985.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(502-504)aCg>aTg		solute carrier family 37 (glucose-6-phosphate transporter), member 4							53.0	64.0	60.0					11																	118898461		2075	4192	6267	SO:0001583	missense	2542				glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity	g.chr11:118898461G>A	Y15409		11q23.3	2014-09-17	2007-03-28	2003-09-10		ENSG00000137700		"""Solute carriers"""	4061	protein-coding gene	gene with protein product		602671	"""glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1"""	G6PT1, G6PT2, G6PT3		9428641, 9463334	Standard	NM_001164277		Approved	GSD1b, GSD1c, GSD1d	uc010ryt.1	O43826		ENST00000545985.1:c.503C>T	11.37:g.118898461G>A	ENSP00000475241:p.Thr168Met					SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Missense_Mutation_p.T95M|SLC37A4_ENST00000357590.5_Missense_Mutation_p.T168M|SLC37A4_ENST00000330775.7_Missense_Mutation_p.T168M	p.T168M	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)	5	1259	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	168					O96016|Q5J7V4|Q9UI19|Q9UNS4	Missense_Mutation	SNP	ENST00000545985.1	37	c.503C>T																																																																																					0.607	SLC37A4-204	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001467		13	34	0	0	0	1	0	13	34				
C12orf56	115749	broad.mit.edu	37	12	64784234	64784234	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:64784234G>A	ENST00000543942.2	-	1	738	c.112C>T	c.(112-114)Cca>Tca	p.P38S	C12orf56_ENST00000333722.5_Missense_Mutation_p.P38S|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	38										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		ACGATGCATGGCTCGTAGGCG	0.642																																						ENST00000543942.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15						c.(112-114)Cca>Tca		chromosome 12 open reading frame 56							50.0	54.0	53.0					12																	64784234		1982	4159	6141	SO:0001583	missense	115749							g.chr12:64784234G>A		CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.112C>T	12.37:g.64784234G>A	ENSP00000446101:p.Pro38Ser					RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.P38S	p.P38S	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)	1	738	-			38						Missense_Mutation	SNP	ENST00000543942.2	37	c.112C>T		.	.	.	.	.	.	.	.	.	.	G	7.859	0.725562	0.15439	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716;ENST00000543259	.	.	.	4.58	1.42	0.22433	.	0.381393	0.22428	N	0.060183	T	0.39226	0.1070	M	0.63843	1.955	0.09310	N	1	B	0.13145	0.007	B	0.15870	0.014	T	0.26467	-1.0102	8	.	.	.	-0.1896	6.7797	0.23638	0.3303:0.0:0.6697:0.0	.	38	Q8IXR9-2	.	S	38;38;38;25	.	.	P	-	1	0	C12orf56	63070501	0.970000	0.33590	0.001000	0.08648	0.000000	0.00434	1.369000	0.34227	0.173000	0.19788	-0.391000	0.06502	CCA		0.642	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000401058.2	NM_001099676		5	148	0	0	0	1	0	5	148				
DPP9	91039	broad.mit.edu	37	19	4682811	4682811	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:4682811A>G	ENST00000598800.1	-	21	2789	c.2284T>C	c.(2284-2286)Tac>Cac	p.Y762H	DPP9_ENST00000601173.1_5'Flank|DPP9_ENST00000594671.1_Missense_Mutation_p.Y762H|DPP9_ENST00000262960.9_Missense_Mutation_p.Y791H|AC005594.3_ENST00000381796.1_RNA			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	762						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CCTGTGTCGTAGGCCATCCAG	0.627																																						ENST00000262960.9																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2371-2373)Tac>Cac		dipeptidyl-peptidase 9							59.0	65.0	63.0					19																	4682811		2104	4202	6306	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4682811A>G	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.2284T>C	19.37:g.4682811A>G	ENSP00000469603:p.Tyr762His					DPP9_ENST00000598800.1_Missense_Mutation_p.Y762H|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000594671.1_Missense_Mutation_p.Y762H	p.Y791H	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	20	2648	-		Hepatocellular(1079;0.137)	762					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.2371T>C		.	.	.	.	.	.	.	.	.	.	a	17.53	3.411964	0.62511	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.33438	1.41	3.29	3.29	0.37713	.	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70880	-0.4752	10	0.87932	D	0	-23.4094	11.3075	0.49345	1.0:0.0:0.0:0.0	.	791	Q1ZZB8	.	H	870;732;791	ENSP00000262960:Y791H	ENSP00000262960:Y791H	Y	-	1	0	DPP9	4633811	1.000000	0.71417	0.999000	0.59377	0.482000	0.33219	8.891000	0.92485	1.515000	0.48885	0.444000	0.29173	TAC		0.627	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			4	7	0	0	0	1	0	4	7				
MORC1	27136	broad.mit.edu	37	3	108725919	108725919	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:108725919T>A	ENST00000232603.5	-	18	1806	c.1724A>T	c.(1723-1725)gAc>gTc	p.D575V	MORC1_ENST00000483760.1_Intron	NM_014429.3	NP_055244.3			MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGTGATTTCGTCCACTGGTAT	0.368																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(1723-1725)gAc>gTc		MORC family CW-type zinc finger 1							100.0	92.0	94.0					3																	108725919		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108725919T>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000232603.5:c.1724A>T	3.37:g.108725919T>A	ENSP00000232603:p.Asp575Val					MORC1_ENST00000483760.1_Intron	p.D575V	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			18	1806	-			575						Missense_Mutation	SNP	ENST00000232603.5	37	c.1724A>T	CCDS2955.1	.	.	.	.	.	.	.	.	.	.	T	5.371	0.253728	0.10185	.	.	ENSG00000114487	ENST00000232603	T	0.06142	3.34	4.04	-0.0202	0.13957	.	1.642630	0.03745	N	0.255667	T	0.03827	0.0108	N	0.14661	0.345	0.09310	N	1	B	0.29432	0.244	B	0.24701	0.055	T	0.38200	-0.9672	10	0.62326	D	0.03	-3.0E-4	0.5195	0.00609	0.1995:0.356:0.1954:0.249	.	575	Q86VD1	MORC1_HUMAN	V	575	ENSP00000232603:D575V	ENSP00000232603:D575V	D	-	2	0	MORC1	110208609	0.000000	0.05858	0.000000	0.03702	0.363000	0.29612	-1.206000	0.03011	-0.011000	0.14247	0.533000	0.62120	GAC		0.368	MORC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353843.1			15	56	0	0	0	1	0	15	56				
HPSE	10855	broad.mit.edu	37	4	84223312	84223312	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:84223312T>C	ENST00000405413.2	-	11	1452	c.1316A>G	c.(1315-1317)aAc>aGc	p.N439S	HPSE_ENST00000512196.1_Missense_Mutation_p.N365S|HPSE_ENST00000513463.1_Missense_Mutation_p.N381S|HPSE_ENST00000311412.5_Missense_Mutation_p.N439S	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	439					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	CTTGTCAGTGTTTGTGCAATG	0.413																																						ENST00000405413.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20						c.(1315-1317)aAc>aGc		heparanase	Heparin(DB01109)						213.0	181.0	192.0					4																	84223312		2203	4300	6503	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84223312T>C	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.1316A>G	4.37:g.84223312T>C	ENSP00000384262:p.Asn439Ser					HPSE_ENST00000311412.5_Missense_Mutation_p.N439S|HPSE_ENST00000512196.1_Missense_Mutation_p.N365S|HPSE_ENST00000513463.1_Missense_Mutation_p.N381S	p.N439S	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	11	1452	-		Hepatocellular(203;0.114)	439					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.1316A>G	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.283351	0.40394	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.44083	0.94;0.94;0.93;0.95	4.67	3.49	0.39957	.	0.045170	0.85682	N	0.000000	T	0.53029	0.1771	L	0.55990	1.75	0.58432	D	0.999995	P;D;D;D	0.89917	0.951;1.0;1.0;1.0	P;D;D;D	0.91635	0.525;0.997;0.999;0.997	T	0.46076	-0.9217	10	0.20519	T	0.43	-17.3762	9.0857	0.36579	0.0:0.0886:0.0:0.9114	.	365;381;381;439	E9PCA9;A9JIG7;E9PGR1;Q9Y251	.;.;.;HPSE_HUMAN	S	439;439;365;381	ENSP00000308107:N439S;ENSP00000384262:N439S;ENSP00000423265:N365S;ENSP00000421365:N381S	ENSP00000308107:N439S	N	-	2	0	HPSE	84442336	1.000000	0.71417	0.298000	0.25002	0.371000	0.29859	6.179000	0.71974	0.824000	0.34613	0.533000	0.62120	AAC		0.413	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		21	68	0	0	0	1	0	21	68				
MAGEB6	158809	broad.mit.edu	37	X	26212473	26212473	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:26212473C>T	ENST00000379034.1	+	2	659	c.510C>T	c.(508-510)gcC>gcT	p.A170A		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	170										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATGTGGCTGCCGAGGGTGAAG	0.517																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(508-510)gcC>gcT		melanoma antigen family B, 6							53.0	47.0	49.0					X																	26212473		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212473C>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.510C>T	X.37:g.26212473C>T							p.A170A	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	659	+			170					Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.510C>T	CCDS14217.1																																																																																				0.517	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		27	32	0	0	0	1	0	27	32				
ECE1	1889	broad.mit.edu	37	1	21551831	21551831	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:21551831T>A	ENST00000374893.6	-	17	2026	c.1952A>T	c.(1951-1953)aAc>aTc	p.N651I	ECE1_ENST00000357071.4_Missense_Mutation_p.N639I|ECE1_ENST00000436918.2_Missense_Mutation_p.N651I|ECE1_ENST00000415912.2_Missense_Mutation_p.N635I|ECE1_ENST00000264205.6_Missense_Mutation_p.N648I	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	651					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CACGCTGTAGTTGCTGTACTG	0.632																																						ENST00000415912.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(1903-1905)aAc>aTc		endothelin converting enzyme 1							141.0	114.0	123.0					1																	21551831		2203	4300	6503	SO:0001583	missense	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21551831T>A	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1952A>T	1.37:g.21551831T>A	ENSP00000364028:p.Asn651Ile					ECE1_ENST00000436918.2_Missense_Mutation_p.N651I|ECE1_ENST00000264205.6_Missense_Mutation_p.N648I|ECE1_ENST00000374893.6_Missense_Mutation_p.N651I|ECE1_ENST00000357071.4_Missense_Mutation_p.N639I	p.N635I	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	17	2029	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	651					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.1904A>T	CCDS215.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004733	0.74932	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77	5.36	4.24	0.50183	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.092907	0.64402	D	0.000001	D	0.88683	0.6503	M	0.83118	2.625	0.53688	D	0.999976	D;D;P;D;D	0.57571	0.966;0.98;0.922;0.976;0.976	P;P;P;P;P	0.62813	0.842;0.907;0.76;0.849;0.849	D	0.87137	0.2200	10	0.52906	T	0.07	-40.5267	6.3407	0.21321	0.0:0.0818:0.1588:0.7594	.	651;635;651;639;648	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	I	635;639;651;651;648	ENSP00000405088:N635I;ENSP00000349581:N639I;ENSP00000364028:N651I;ENSP00000388439:N651I;ENSP00000264205:N648I	ENSP00000264205:N648I	N	-	2	0	ECE1	21424418	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.715000	0.47210	0.879000	0.35944	0.383000	0.25322	AAC		0.632	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		18	65	0	0	0	1	0	18	65				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657959	72657959	+	RNA	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:72657959T>C	ENST00000425256.1	-	0	1952									GTF2I repeat domain containing 2 pseudogene 1																		catgaaggagtcgatttcttc	0.507																																						ENST00000425256.1																			0																																																			401375							g.chr7:72657959T>C	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72657959T>C								NR_002164.1						0	1952	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		26	76	0	0	0	1	0	26	76				
PLEKHG6	55200	broad.mit.edu	37	12	6427516	6427516	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:6427516T>C	ENST00000396988.3	+	11	1435	c.1205T>C	c.(1204-1206)gTt>gCt	p.V402A	PLEKHG6_ENST00000536531.1_Missense_Mutation_p.V402A|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.V402A|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.V370A|PLEKHG6_ENST00000304581.8_5'Flank	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	402						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						ATGCTGGGGGTTGCATCTGAG	0.652																																						ENST00000449001.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						c.(1108-1110)gTt>gCt		pleckstrin homology domain containing, family G (with RhoGef domain) member 6							91.0	89.0	90.0					12																	6427516		2203	4300	6503	SO:0001583	missense	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6427516T>C	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1205T>C	12.37:g.6427516T>C	ENSP00000380185:p.Val402Ala					PLEKHG6_ENST00000536531.1_Missense_Mutation_p.V402A|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.V402A|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.V402A	p.V370A	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN			10	1603	+			402					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	c.1109T>C	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	T	11.06	1.528393	0.27299	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.63417	0.07;0.14;0.07;-0.04	4.58	4.58	0.56647	Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000005	T	0.65207	0.2669	L	0.43757	1.38	0.80722	D	1	B;B;D	0.76494	0.178;0.178;0.999	B;B;D	0.78314	0.234;0.108;0.991	T	0.63422	-0.6641	10	0.05525	T	0.97	-9.9464	10.2762	0.43512	0.0:0.0:0.0:1.0	.	370;402;402	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	A	402;402;402;370	ENSP00000011684:V402A;ENSP00000442836:V402A;ENSP00000380185:V402A;ENSP00000393194:V370A	ENSP00000011684:V402A	V	+	2	0	PLEKHG6	6297777	0.945000	0.32115	0.860000	0.33809	0.192000	0.23643	3.567000	0.53813	1.920000	0.55613	0.459000	0.35465	GTT		0.652	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		19	97	0	0	0	1	0	19	97				
CCNA1	8900	broad.mit.edu	37	13	37012300	37012300	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:37012300A>C	ENST00000255465.4	+	4	905	c.641A>C	c.(640-642)gAa>gCa	p.E214A	CCNA1_ENST00000418263.1_Missense_Mutation_p.E213A|CCNA1_ENST00000449823.1_Missense_Mutation_p.E170A|CCNA1_ENST00000440264.1_Missense_Mutation_p.E170A			P78396	CCNA1_HUMAN	cyclin A1	214					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TATGCTGAAGAAATTTATCAG	0.393																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(637-639)gAa>gCa		cyclin A1							141.0	140.0	140.0					13																	37012300		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37012300A>C	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.641A>C	13.37:g.37012300A>C	ENSP00000255465:p.Glu214Ala					CCNA1_ENST00000449823.1_Missense_Mutation_p.E170A|CCNA1_ENST00000255465.4_Missense_Mutation_p.E214A|CCNA1_ENST00000440264.1_Missense_Mutation_p.E170A	p.E213A	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	4	988	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	214					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.638A>C	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.373105	0.82573	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.89	4.71	0.59529	Cyclin, N-terminal (1);Cyclin-like (1);	0.193806	0.53938	D	0.000047	T	0.41488	0.1161	M	0.93150	3.385	0.48236	D	0.999618	P;P	0.50710	0.938;0.795	P;P	0.57101	0.813;0.714	T	0.52571	-0.8558	10	0.87932	D	0	.	11.8086	0.52169	0.9317:0.0:0.0683:0.0	.	213;214	P78396-2;P78396	.;CCNA1_HUMAN	A	170;170;213;214	ENSP00000400666:E170A;ENSP00000409873:E170A;ENSP00000396479:E213A;ENSP00000255465:E214A	ENSP00000255465:E214A	E	+	2	0	CCNA1	35910300	1.000000	0.71417	0.999000	0.59377	0.817000	0.46193	7.991000	0.88244	1.048000	0.40298	0.533000	0.62120	GAA		0.393	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		34	100	0	0	0	1	0	34	100				
BCL6	604	broad.mit.edu	37	3	187447147	187447147	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:187447147C>T	ENST00000406870.2	-	5	1412	c.1046G>A	c.(1045-1047)aGc>aAc	p.S349N	BCL6_ENST00000450123.2_Missense_Mutation_p.S349N|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.S349N	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	349					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ATTCTTACTGCTGCAGGACTC	0.582			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(1045-1047)aGc>aAc		B-cell CLL/lymphoma 6							118.0	138.0	131.0					3																	187447147		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447147C>T		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1046G>A	3.37:g.187447147C>T	ENSP00000384371:p.Ser349Asn					RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.S349N|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.S349N	p.S349N	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1412	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		349					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.1046G>A	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599346	0.87055	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.13657	2.57;2.57;2.67	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	L	0.55481	1.735	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.72982	0.979;0.968	T	0.00657	-1.1623	10	0.56958	D	0.05	.	18.9993	0.92826	0.0:1.0:0.0:0.0	.	349;349	B8PSA7;P41182	.;BCL6_HUMAN	N	349	ENSP00000384371:S349N;ENSP00000232014:S349N;ENSP00000413122:S349N	ENSP00000232014:S349N	S	-	2	0	BCL6	188929841	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.260000	0.78391	2.815000	0.96918	0.561000	0.74099	AGC		0.582	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		64	280	0	0	0	1	0	64	280				
STX18	53407	broad.mit.edu	37	4	4422626	4422626	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:4422626C>T	ENST00000306200.2	-	10	940	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	STX18_ENST00000505286.1_Missense_Mutation_p.E293K	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	293	t-SNARE coiled-coil homology.				ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		TTGATATTTTCAGTTGCCCCC	0.468																																						ENST00000306200.2																			0				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5						c.(877-879)Gaa>Aaa		syntaxin 18							310.0	242.0	265.0					4																	4422626		2203	4300	6503	SO:0001583	missense	53407				ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity	g.chr4:4422626C>T	AB028741	CCDS3377.1	4p16.3-p16.2	2013-09-23			ENSG00000168818	ENSG00000168818			15942	protein-coding gene	gene with protein product		606046				10788491	Standard	NM_016930		Approved	Ufe1	uc003gic.3	Q9P2W9	OTTHUMG00000090331	ENST00000306200.2:c.877G>A	4.37:g.4422626C>T	ENSP00000305810:p.Glu293Lys					STX18_ENST00000505286.1_Missense_Mutation_p.E293K	p.E293K	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)	10	940	-			293			t-SNARE coiled-coil homology.		Q596L3|Q5TZP5	Missense_Mutation	SNP	ENST00000306200.2	37	c.877G>A	CCDS3377.1	.	.	.	.	.	.	.	.	.	.	C	34	5.356643	0.95854	.	.	ENSG00000168818	ENST00000505286;ENST00000306200	T;T	0.56444	0.46;0.46	4.89	4.89	0.63831	.	0.052246	0.85682	D	0.000000	T	0.64305	0.2586	L	0.60957	1.885	0.80722	D	1	D	0.56287	0.975	P	0.55455	0.776	T	0.65026	-0.6268	10	0.42905	T	0.14	.	18.0594	0.89372	0.0:1.0:0.0:0.0	.	293	Q9P2W9	STX18_HUMAN	K	293	ENSP00000426648:E293K;ENSP00000305810:E293K	ENSP00000305810:E293K	E	-	1	0	STX18	4473527	1.000000	0.71417	0.753000	0.31225	0.929000	0.56500	6.782000	0.75073	2.262000	0.75019	0.561000	0.74099	GAA		0.468	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206696.1			29	155	0	0	0	1	0	29	155				
DBP	1628	broad.mit.edu	37	19	49134122	49134122	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:49134122C>T	ENST00000222122.5	-	4	1393	c.950G>A	c.(949-951)cGa>cAa	p.R317Q	DBP_ENST00000599385.1_Missense_Mutation_p.R115Q|DBP_ENST00000593500.1_Missense_Mutation_p.R115Q	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	317	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	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 regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GGCCTGGTATCGGGACAGCAC	0.687																																						ENST00000222122.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(949-951)cGa>cAa		D site of albumin promoter (albumin D-box) binding protein							15.0	17.0	17.0					19																	49134122		2196	4296	6492	SO:0001583	missense	1628				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:49134122C>T	U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.950G>A	19.37:g.49134122C>T	ENSP00000222122:p.Arg317Gln					DBP_ENST00000593500.1_Missense_Mutation_p.R115Q|DBP_ENST00000599385.1_Missense_Mutation_p.R115Q	p.R317Q	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)	4	1393	-		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	317					A2I2P4	Missense_Mutation	SNP	ENST00000222122.5	37	c.950G>A	CCDS12728.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411482	0.83340	.	.	ENSG00000105516	ENST00000222122	.	.	.	4.28	4.28	0.50868	Basic-leucine zipper (bZIP) transcription factor (2);	0.081162	0.47093	U	0.000255	T	0.31104	0.0786	L	0.34521	1.04	0.33010	D	0.527399	P	0.52692	0.955	B	0.42653	0.394	T	0.50180	-0.8858	9	0.72032	D	0.01	-7.9592	8.2508	0.31717	0.0:0.8921:0.0:0.1079	.	317	Q10586	DBP_HUMAN	Q	317	.	ENSP00000222122:R317Q	R	-	2	0	DBP	53825934	0.775000	0.28604	0.998000	0.56505	0.888000	0.51559	2.385000	0.44371	2.364000	0.80123	0.563000	0.77884	CGA		0.687	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352		5	8	0	0	0	1	0	5	8				
SHANK1	50944	broad.mit.edu	37	19	51191246	51191246	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:51191246T>C	ENST00000293441.1	-	17	2260	c.2242A>G	c.(2242-2244)Acg>Gcg	p.T748A	SHANK1_ENST00000391813.1_Missense_Mutation_p.T135A|SHANK1_ENST00000391814.1_Missense_Mutation_p.T748A|SHANK1_ENST00000359082.3_Missense_Mutation_p.T739A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	748	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCATCAGCGTGTTGCCCCCT	0.607																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(2242-2244)Acg>Gcg		SH3 and multiple ankyrin repeat domains 1							192.0	124.0	147.0					19																	51191246		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51191246T>C	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2242A>G	19.37:g.51191246T>C	ENSP00000293441:p.Thr748Ala					SHANK1_ENST00000391814.1_Missense_Mutation_p.T748A|SHANK1_ENST00000391813.1_Missense_Mutation_p.T135A|SHANK1_ENST00000359082.3_Missense_Mutation_p.T739A	p.T748A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	17	2260	-		all_neural(266;0.057)	748			PDZ.		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.2242A>G	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.624208	0.28889	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	3.33	3.33	0.38152	PDZ/DHR/GLGF (4);	0.144833	0.43579	U	0.000550	T	0.31857	0.0810	L	0.35249	1.045	0.28153	N	0.929309	B;B	0.33198	0.147;0.401	B;B	0.35931	0.073;0.214	T	0.19451	-1.0305	10	0.32370	T	0.25	-20.2718	11.145	0.48426	0.0:0.0:0.0:1.0	.	748;135	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	A	748;135;739;748	ENSP00000293441:T748A;ENSP00000375689:T135A;ENSP00000351984:T739A;ENSP00000375690:T748A	ENSP00000293441:T748A	T	-	1	0	SHANK1	55883058	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.421000	0.34815	1.545000	0.49373	0.240000	0.17902	ACG		0.607	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		32	65	0	0	0	1	0	32	65				
HEY2	23493	broad.mit.edu	37	6	126080822	126080822	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:126080822A>G	ENST00000368364.3	+	5	1085	c.888A>G	c.(886-888)gcA>gcG	p.A296A	HEY2_ENST00000368365.1_Silent_p.A250A	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	296	Ala-rich.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CAGCAGCAGCAGTGGCCGCGG	0.642																																						ENST00000368364.3																			0				breast(1)|large_intestine(7)|lung(5)|prostate(1)	14						c.(886-888)gcA>gcG		hes-related family bHLH transcription factor with YRPW motif 2							68.0	78.0	75.0					6																	126080822		2203	4299	6502	SO:0001819	synonymous_variant	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080822A>G	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.888A>G	6.37:g.126080822A>G						HEY2_ENST00000368365.1_Silent_p.A250A	p.A296A	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	1085	+			296			Ala-rich.			Silent	SNP	ENST00000368364.3	37	c.888A>G	CCDS5131.1																																																																																				0.642	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			14	239	0	0	0	1	0	14	239				
GMPS	8833	broad.mit.edu	37	3	155632272	155632272	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:155632272A>G	ENST00000496455.2	+	8	1286	c.951A>G	c.(949-951)agA>agG	p.R317R	GMPS_ENST00000295920.7_Silent_p.R218R	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	317	GMPS ATP-PPase. {ECO:0000255|PROSITE- ProRule:PRU00886}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	ATGAAGATAGAACCCCACGGA	0.363			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	ENST00000496455.1				Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(949-951)agA>agG		guanine monphosphate synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						118.0	108.0	111.0					3																	155632272		1822	4068	5890	SO:0001819	synonymous_variant	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155632272A>G	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.951A>G	3.37:g.155632272A>G						GMPS_ENST00000295920.7_Silent_p.R218R	p.R317R	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		8	1286	+			317					A8K639|B4DXV7|F8W720	Silent	SNP	ENST00000496455.2	37	c.951A>G	CCDS46941.1																																																																																				0.363	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			31	73	0	0	0	1	0	31	73				
SLC5A5	6528	broad.mit.edu	37	19	17994513	17994513	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17994513C>T	ENST00000222248.3	+	11	1613	c.1266C>T	c.(1264-1266)gtC>gtT	p.V422V		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	422					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCATGGGAGTCATCAGCGGCC	0.682																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(1264-1266)gtC>gtT		solute carrier family 5 (sodium/iodide cotransporter), member 5							42.0	46.0	44.0					19																	17994513		2202	4299	6501	SO:0001819	synonymous_variant	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17994513C>T		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1266C>T	19.37:g.17994513C>T							p.V422V	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			11	1613	+			422					O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	c.1266C>T	CCDS12368.1																																																																																				0.682	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			35	120	0	0	0	1	0	35	120				
ZNF195	7748	broad.mit.edu	37	11	3392921	3392921	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:3392921A>G	ENST00000399602.4	-	2	142	c.16T>C	c.(16-18)Ttc>Ctc	p.F6L	ZNF195_ENST00000005082.9_Missense_Mutation_p.F6L|ZNF195_ENST00000354599.6_Missense_Mutation_p.F6L|ZNF195_ENST00000343338.7_Missense_Mutation_p.F10L|ZNF195_ENST00000438262.2_Missense_Mutation_p.F10L|ZNF195_ENST00000527386.1_5'UTR|ZNF195_ENST00000526601.1_Missense_Mutation_p.F10L|ZNF195_ENST00000429541.2_Missense_Mutation_p.F10L|AC123788.1_ENST00000581561.1_RNA|ZNF195_ENST00000528796.1_Missense_Mutation_p.F6L	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	6	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACATCCCTGAACGTCAACAGA	0.443																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(16-18)Ttc>Ctc		zinc finger protein 195							66.0	71.0	69.0					11																	3392921		2195	4297	6492	SO:0001583	missense	7748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3392921A>G		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.16T>C	11.37:g.3392921A>G	ENSP00000382511:p.Phe6Leu					ZNF195_ENST00000429541.2_Missense_Mutation_p.F10L|ZNF195_ENST00000399602.4_Missense_Mutation_p.F6L|ZNF195_ENST00000528796.1_Missense_Mutation_p.F6L|ZNF195_ENST00000343338.7_Missense_Mutation_p.F10L|ZNF195_ENST00000527386.1_5'UTR|ZNF195_ENST00000526601.1_Missense_Mutation_p.F10L|ZNF195_ENST00000438262.2_Missense_Mutation_p.F10L|ZNF195_ENST00000005082.9_Missense_Mutation_p.F6L	p.F6L	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	120	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	0			KRAB.		A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	c.16T>C	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	a	17.34	3.363725	0.61513	.	.	ENSG00000005801	ENST00000528796;ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601;ENST00000438262;ENST00000528410;ENST00000533036;ENST00000529678;ENST00000427810;ENST00000534569;ENST00000525502;ENST00000532539	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.07114	3.22;3.22;3.22;3.22;3.22;3.22;3.22;3.22;3.22;3.22;3.22;3.22;3.22;3.22;3.22	1.19	1.19	0.21007	Krueppel-associated box (4);	.	.	.	.	T	0.25195	0.0612	M	0.91612	3.225	0.09310	N	1	B;B;P;B;P	0.49696	0.219;0.091;0.927;0.259;0.927	P;B;P;B;P	0.56563	0.68;0.023;0.801;0.418;0.801	T	0.07790	-1.0754	9	0.87932	D	0	.	4.4429	0.11582	1.0:0.0:0.0:0.0	.	10;6;10;6;6	O14628-6;O14628-5;O14628-7;O14628;O14628-4	.;.;.;ZN195_HUMAN;.	L	6;6;6;10;10;6;10;10;10;6;10;21;10;6;10	ENSP00000432720:F6L;ENSP00000346613:F6L;ENSP00000382511:F6L;ENSP00000344483:F10L;ENSP00000387998:F10L;ENSP00000005082:F6L;ENSP00000435828:F10L;ENSP00000414353:F10L;ENSP00000431937:F10L;ENSP00000433911:F6L;ENSP00000434715:F10L;ENSP00000390663:F21L;ENSP00000437265:F10L;ENSP00000434006:F6L;ENSP00000435153:F10L	ENSP00000005082:F6L	F	-	1	0	ZNF195	3349497	0.827000	0.29292	0.034000	0.17996	0.692000	0.40212	2.534000	0.45676	0.497000	0.27926	0.260000	0.18958	TTC		0.443	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			4	124	0	0	0	1	0	4	124				
SAR1A	56681	broad.mit.edu	37	10	71912253	71912253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:71912253C>T	ENST00000373242.2	-	8	772	c.576G>A	c.(574-576)tgG>tgA	p.W192*	SAR1A_ENST00000431664.2_Nonsense_Mutation_p.W192*|SAR1A_ENST00000373238.1_Nonsense_Mutation_p.W192*|SAR1A_ENST00000373241.4_Nonsense_Mutation_p.W192*|SAR1A_ENST00000458634.2_Nonsense_Mutation_p.W149*	NM_001142648.1	NP_001136120.1	Q9NR31	SAR1A_HUMAN	secretion associated, Ras related GTPase 1A	192					intracellular protein transport (GO:0006886)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ACTGGGAGAGCCAGCGGAAAC	0.463																																						ENST00000373238.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						c.(574-576)tgG>tgA		SAR1 homolog A (S. cerevisiae)							79.0	71.0	74.0					10																	71912253		2203	4300	6503	SO:0001587	stop_gained	56681				ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity	g.chr10:71912253C>T		CCDS7298.1	10q22.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000079332	ENSG00000079332			10534	protein-coding gene	gene with protein product		607691	"""SAR1a gene homolog (S. cerevisiae) 1"", ""SAR1a gene homolog 1 (S. cerevisiae)"", ""SAR1 homolog A (S. cerevisiae)"""	SARA1		10871277	Standard	NM_020150		Approved	SAR1, Sara	uc010qji.2	Q9NR31	OTTHUMG00000018400	ENST00000373242.2:c.576G>A	10.37:g.71912253C>T	ENSP00000362339:p.Trp192*					SAR1A_ENST00000458634.2_Nonsense_Mutation_p.W149*|SAR1A_ENST00000373242.1_Nonsense_Mutation_p.W192*|SAR1A_ENST00000373241.4_Nonsense_Mutation_p.W192*|SAR1A_ENST00000431664.2_Nonsense_Mutation_p.W192*	p.W192*			Q9NR31	SAR1A_HUMAN			7	933	-			192					B4DQ19	Nonsense_Mutation	SNP	ENST00000373242.2	37	c.576G>A	CCDS7298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.086848|6.086848	0.97271|0.97271	.|.	.|.	ENSG00000079332|ENSG00000079332	ENST00000452767|ENST00000373241;ENST00000373239;ENST00000373238;ENST00000373242;ENST00000431664;ENST00000458634;ENST00000395026	.|.	.|.	.|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.46560|.	0.1399|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35500|.	-0.9786|.	4|.	.|0.02654	.|T	.|1	.|.	18.2046|18.2046	0.89851|0.89851	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|X	109|192;192;192;192;192;149;111	.|.	.|ENSP00000362335:W192X	A|W	-|-	1|3	0|0	SAR1A|SAR1A	71582259|71582259	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.771000|7.771000	0.85420|0.85420	2.658000|2.658000	0.90341|0.90341	0.585000|0.585000	0.79938|0.79938	GCT|TGG		0.463	SAR1A-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048500.2			15	61	0	0	0	1	0	15	61				
RIPK4	54101	broad.mit.edu	37	21	43165917	43165917	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:43165917A>G	ENST00000352483.2	-	7	1145		c.e7+1		RIPK4_ENST00000544709.1_Splice_Site|RIPK4_ENST00000332512.3_Splice_Site|RIPK4_ENST00000542057.1_Splice_Site			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4						morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGGACTCGTTACCTCGCTCCT	0.567																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.e7+1		receptor-interacting serine-threonine kinase 4							118.0	112.0	114.0					21																	43165917		2203	4300	6503	SO:0001630	splice_region_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43165917A>G	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1080+1T>C	21.37:g.43165917A>G						RIPK4_ENST00000332512.3_Splice_Site|RIPK4_ENST00000544709.1_Splice_Site|RIPK4_ENST00000542057.1_Splice_Site				Q96T11	Q96T11_HUMAN			7	1145	-								Q96KH0	Splice_Site	SNP	ENST00000352483.2	37			.	.	.	.	.	.	.	.	.	.	A	10.73	1.433564	0.25813	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5225	0.61576	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RIPK4	42038986	1.000000	0.71417	0.678000	0.29963	0.018000	0.09664	5.323000	0.65858	1.850000	0.53721	0.533000	0.62120	.		0.567	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639	Intron	41	91	0	0	0	1	0	41	91				
EHMT1	79813	broad.mit.edu	37	9	140729234	140729234	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:140729234T>C	ENST00000460843.1	+	27	3753	c.3726T>C	c.(3724-3726)taT>taC	p.Y1242Y		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1242	Interaction with histone H3.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GGTTTGACTATGGAGAGCGCT	0.607																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(3724-3726)taT>taC		euchromatic histone-lysine N-methyltransferase 1							69.0	56.0	61.0					9																	140729234		2203	4300	6503	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140729234T>C	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3726T>C	9.37:g.140729234T>C							p.Y1242Y	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	27	3753	+	all_cancers(76;0.164)		1242			Interaction with histone H3.|SET.		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.3726T>C	CCDS7050.2																																																																																				0.607	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		17	45	0	0	0	1	0	17	45				
MFN1	55669	broad.mit.edu	37	3	179080157	179080157	+	Silent	SNP	A	A	G	rs149335403	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:179080157A>G	ENST00000471841.1	+	5	549	c.423A>G	c.(421-423)caA>caG	p.Q141Q	MFN1_ENST00000280653.7_Silent_p.Q141Q|MFN1_ENST00000263969.5_Silent_p.Q141Q	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	141	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CAGTTAATCAACTGGCCCATG	0.363													A|||	2	0.000399361	0.0015	0.0	5008	,	,		16131	0.0		0.0	False		,,,				2504	0.0					ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(421-423)caA>caG		mitofusin 1		A		7,4399	12.9+/-30.5	0,7,2196	98.0	93.0	94.0		423	1.4	1.0	3	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous	MFN1	NM_033540.2		0,7,6496	GG,GA,AA		0.0,0.1589,0.0538		141/742	179080157	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179080157A>G	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.423A>G	3.37:g.179080157A>G						MFN1_ENST00000280653.7_Silent_p.Q141Q|MFN1_ENST00000263969.5_Silent_p.Q141Q	p.Q141Q	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		5	549	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		141					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	c.423A>G	CCDS3228.1																																																																																				0.363	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		17	69	0	0	0	1	0	17	69				
AGRN	375790	broad.mit.edu	37	1	983025	983025	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:983025G>A	ENST00000379370.2	+	21	3639	c.3589G>A	c.(3589-3591)Ggc>Agc	p.G1197S		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1197	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCTGGGGCCCGGCAAATCCGT	0.617																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(3589-3591)Ggc>Agc		agrin							51.0	56.0	54.0					1																	983025		2202	4300	6502	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:983025G>A	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.3589G>A	1.37:g.983025G>A	ENSP00000368678:p.Gly1197Ser						p.G1197S	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	21	3639	+	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)	1197			SEA.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.3589G>A	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	G	8.630	0.893379	0.17613	.	.	ENSG00000188157	ENST00000379370	T	0.30981	1.51	3.86	3.86	0.44501	SEA (3);	0.068842	0.53938	U	0.000042	T	0.08626	0.0214	N	0.02539	-0.55	0.29384	N	0.863096	B	0.33612	0.419	B	0.27796	0.083	T	0.08617	-1.0713	10	0.17832	T	0.49	-31.2283	3.5693	0.07912	0.2365:0.2215:0.542:0.0	.	1197	O00468	AGRIN_HUMAN	S	1197	ENSP00000368678:G1197S	ENSP00000368678:G1197S	G	+	1	0	AGRN	972888	0.896000	0.30565	0.970000	0.41538	0.258000	0.26162	1.532000	0.36029	2.183000	0.69458	0.550000	0.68814	GGC		0.617	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		4	110	0	0	0	1	0	4	110				
MAP3K4	4216	broad.mit.edu	37	6	161512474	161512474	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:161512474A>G	ENST00000392142.4	+	12	3185	c.3037A>G	c.(3037-3039)Aca>Gca	p.T1013A	MAP3K4_ENST00000366919.2_Missense_Mutation_p.T1013A|MAP3K4_ENST00000366920.2_Missense_Mutation_p.T1013A|MAP3K4_ENST00000348824.7_Missense_Mutation_p.T1013A	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1013					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CCACATGTTCACATCAGAATT	0.423																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(3037-3039)Aca>Gca		mitogen-activated protein kinase kinase kinase 4							281.0	246.0	258.0					6																	161512474		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161512474A>G	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3037A>G	6.37:g.161512474A>G	ENSP00000375986:p.Thr1013Ala					MAP3K4_ENST00000348824.7_Missense_Mutation_p.T1013A|MAP3K4_ENST00000366920.2_Missense_Mutation_p.T1013A|MAP3K4_ENST00000366919.2_Missense_Mutation_p.T1013A	p.T1013A	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	12	3185	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1013					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.3037A>G	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.987193	0.35036	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.70749	-0.51;-0.51;-0.5;-0.51	5.44	5.44	0.79542	.	0.063315	0.64402	D	0.000007	T	0.44787	0.1310	L	0.51422	1.61	0.53005	D	0.999965	B;B;P;P	0.37061	0.062;0.034;0.522;0.58	B;B;B;B	0.32980	0.039;0.011;0.142;0.156	T	0.55049	-0.8201	10	0.06236	T	0.91	-15.0375	15.8087	0.78538	1.0:0.0:0.0:0.0	.	1013;3;1013;1013	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	A	1013	ENSP00000355886:T1013A;ENSP00000375986:T1013A;ENSP00000355887:T1013A;ENSP00000297332:T1013A	ENSP00000297332:T1013A	T	+	1	0	MAP3K4	161432464	1.000000	0.71417	0.919000	0.36401	0.849000	0.48306	5.812000	0.69194	2.191000	0.70037	0.528000	0.53228	ACA		0.423	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			54	158	0	0	0	1	0	54	158				
FSD2	123722	broad.mit.edu	37	15	83455722	83455722	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:83455722C>A	ENST00000334574.8	-	2	602	c.421G>T	c.(421-423)Ggc>Tgc	p.G141C	FSD2_ENST00000541889.1_Missense_Mutation_p.G141C			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	141										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TGGCACTGGCCTGCTGAGCCC	0.602																																						ENST00000334574.8																			0				breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						c.(421-423)Ggc>Tgc		fibronectin type III and SPRY domain containing 2							60.0	65.0	63.0					15																	83455722		2088	4202	6290	SO:0001583	missense	123722							g.chr15:83455722C>A	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.421G>T	15.37:g.83455722C>A	ENSP00000335651:p.Gly141Cys					FSD2_ENST00000541889.1_Missense_Mutation_p.G141C	p.G141C			A1L4K1	FSD2_HUMAN			2	602	-			141					B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.421G>T	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229222	0.39399	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.47869	0.83;0.83	5.27	4.35	0.52113	.	0.736243	0.12569	N	0.457498	T	0.44371	0.1290	L	0.43152	1.355	0.09310	N	1	P;P	0.50710	0.938;0.938	B;P	0.47206	0.436;0.541	T	0.29822	-0.9999	10	0.51188	T	0.08	-5.1443	6.8814	0.24174	0.1728:0.7385:0.0:0.0887	.	141;141	B7ZM02;A1L4K1	.;FSD2_HUMAN	C	141	ENSP00000335651:G141C;ENSP00000444078:G141C	ENSP00000335651:G141C	G	-	1	0	FSD2	81252776	0.000000	0.05858	0.003000	0.11579	0.270000	0.26580	0.211000	0.17474	1.224000	0.43551	0.655000	0.94253	GGC		0.602	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		22	92	1	0	1.55469e-16	1	1.63288e-16	22	92				
CHST2	9435	broad.mit.edu	37	3	142840276	142840276	+	Silent	SNP	G	G	C	rs376240735		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:142840276G>C	ENST00000309575.3	+	2	2002	c.618G>C	c.(616-618)ccG>ccC	p.P206P		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	206					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						AACTGTATCCGGGGGACGCCG	0.602																																						ENST00000309575.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(616-618)ccG>ccC		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							65.0	80.0	75.0					3																	142840276		2195	4292	6487	SO:0001819	synonymous_variant	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840276G>C	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.618G>C	3.37:g.142840276G>C							p.P206P	NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN			2	2002	+			206					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Silent	SNP	ENST00000309575.3	37	c.618G>C	CCDS3129.1																																																																																				0.602	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		50	126	0	0	0	1	0	50	126				
IL7	3574	broad.mit.edu	37	8	79646036	79646036	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:79646036T>G	ENST00000263851.4	-	6	1046	c.446A>C	c.(445-447)aAa>aCa	p.K149T	IL7_ENST00000541183.1_Missense_Mutation_p.K36T|IL7_ENST00000520269.1_Missense_Mutation_p.K105T|IL7_ENST00000519833.1_Intron	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	149					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)			endometrium(2)|large_intestine(2)|lung(1)	5						GTCATTCAGTTTTTTCTGTTC	0.244																																						ENST00000263851.4																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(445-447)aAa>aCa		interleukin 7							71.0	76.0	74.0					8																	79646036		2201	4298	6499	SO:0001583	missense	3574				bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding	g.chr8:79646036T>G	J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"""Interleukins and interleukin receptors"""	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.446A>C	8.37:g.79646036T>G	ENSP00000263851:p.Lys149Thr					IL7_ENST00000520269.1_Missense_Mutation_p.K105T|IL7_ENST00000519833.1_Intron|IL7_ENST00000541183.1_Missense_Mutation_p.K36T	p.K149T	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN			6	1046	-			149					A0N0L3|Q5FBY5|Q5FBY9	Missense_Mutation	SNP	ENST00000263851.4	37	c.446A>C	CCDS6224.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885870	0.51908	.	.	ENSG00000104432	ENST00000263851;ENST00000520269;ENST00000379114;ENST00000541183	T;T;T	0.52057	0.68;0.68;0.68	4.46	2.07	0.26955	.	0.272202	0.26605	N	0.023442	T	0.47655	0.1457	L	0.32530	0.975	0.80722	D	1	D;D	0.69078	0.997;0.993	D;P	0.63793	0.918;0.865	T	0.33471	-0.9867	9	.	.	.	.	5.9213	0.19084	0.0:0.2116:0.0:0.7884	.	149;105	P13232;Q5FBY9	IL7_HUMAN;.	T	149;105;102;36	ENSP00000263851:K149T;ENSP00000427750:K105T;ENSP00000438922:K36T	.	K	-	2	0	IL7	79808591	0.980000	0.34600	0.943000	0.38184	0.871000	0.50021	0.373000	0.20484	0.342000	0.23796	-0.256000	0.11100	AAA		0.244	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379429.1			10	76	0	0	0	1	0	10	76				
ABCE1	6059	broad.mit.edu	37	4	146031549	146031549	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:146031549A>C	ENST00000296577.4	+	7	1081	c.566A>C	c.(565-567)gAc>gCc	p.D189A	ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_5'Flank	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	189	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TCTATTTTGGACCGAAAAGAT	0.299																																						ENST00000296577.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18						c.(565-567)gAc>gCc		ATP-binding cassette, sub-family E (OABP), member 1							111.0	113.0	112.0					4																	146031549		2203	4300	6503	SO:0001583	missense	6059				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	g.chr4:146031549A>C	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.566A>C	4.37:g.146031549A>C	ENSP00000296577:p.Asp189Ala					ABCE1_ENST00000502803.1_Intron	p.D189A	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN			7	1081	+	all_hematologic(180;0.151)		189			ABC transporter 1.		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	c.566A>C	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.110924	0.37242	.	.	ENSG00000164163	ENST00000296577;ENST00000502586	D	0.92647	-3.08	5.49	5.49	0.81192	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.174339	0.64402	D	0.000009	D	0.86230	0.5883	N	0.20685	0.6	0.49483	D	0.999797	B	0.02656	0.0	B	0.10450	0.005	T	0.81556	-0.0879	10	0.33940	T	0.23	-38.6477	15.8809	0.79205	1.0:0.0:0.0:0.0	.	189	P61221	ABCE1_HUMAN	A	189	ENSP00000296577:D189A	ENSP00000296577:D189A	D	+	2	0	ABCE1	146250999	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.718000	0.68455	2.205000	0.71048	0.455000	0.32223	GAC		0.299	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		40	102	0	0	0	1	0	40	102				
LSM14A	26065	broad.mit.edu	37	19	34687588	34687588	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:34687588G>A	ENST00000433627.5	+	3	410	c.335G>A	c.(334-336)gGa>gAa	p.G112E	LSM14A_ENST00000544216.3_Missense_Mutation_p.G112E|LSM14A_ENST00000540746.2_Missense_Mutation_p.G112E	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	112					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GGTTCTTATGGACCTTTCGGC	0.433																																						ENST00000544216.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(334-336)gGa>gAa		LSM14A, SCD6 homolog A (S. cerevisiae)							205.0	182.0	190.0					19																	34687588		2203	4300	6503	SO:0001583	missense	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34687588G>A	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.335G>A	19.37:g.34687588G>A	ENSP00000413964:p.Gly112Glu					LSM14A_ENST00000540746.2_Missense_Mutation_p.G112E|LSM14A_ENST00000433627.5_Missense_Mutation_p.G112E	p.G112E	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			3	412	+	Esophageal squamous(110;0.162)		112					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	c.335G>A	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744490	0.69418	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.32753	1.44;1.45;1.45	5.18	4.12	0.48240	.	0.165531	0.53938	D	0.000055	T	0.52108	0.1714	M	0.73598	2.24	0.58432	D	0.999997	D;D;D	0.89917	0.985;1.0;0.999	P;D;D	0.85130	0.797;0.997;0.988	T	0.52682	-0.8543	10	0.12430	T	0.62	-8.9986	15.2334	0.73411	0.0:0.0:0.8581:0.1419	.	112;112;112	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	E	112	ENSP00000446271:G112E;ENSP00000413964:G112E;ENSP00000446451:G112E	ENSP00000314768:G112E	G	+	2	0	LSM14A	39379428	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	5.284000	0.65627	1.289000	0.44618	0.557000	0.71058	GGA		0.433	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		47	126	0	0	0	1	0	47	126				
LPHN2	23266	broad.mit.edu	37	1	82372869	82372869	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:82372869A>G	ENST00000370728.1	+	6	886	c.241A>G	c.(241-243)Aat>Gat	p.N81D	LPHN2_ENST00000394879.1_Missense_Mutation_p.N81D|LPHN2_ENST00000359929.3_Missense_Mutation_p.N81D|LPHN2_ENST00000370730.1_Missense_Mutation_p.N81D|LPHN2_ENST00000370717.2_Missense_Mutation_p.N81D|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370715.1_Missense_Mutation_p.N81D|LPHN2_ENST00000319517.6_Missense_Mutation_p.N81D|LPHN2_ENST00000370727.1_Missense_Mutation_p.N81D|LPHN2_ENST00000370723.1_Missense_Mutation_p.N81D|LPHN2_ENST00000335786.5_Missense_Mutation_p.N81D|LPHN2_ENST00000370725.1_Missense_Mutation_p.N81D|LPHN2_ENST00000271029.4_Missense_Mutation_p.N81D|LPHN2_ENST00000370713.1_Missense_Mutation_p.N81D|LPHN2_ENST00000370721.1_Missense_Mutation_p.N81D			O95490	LPHN2_HUMAN	latrophilin 2	81	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCAGATGGAGAATACAGACTG	0.423																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(241-243)Aat>Gat		latrophilin 2							169.0	155.0	160.0					1																	82372869		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82372869A>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.241A>G	1.37:g.82372869A>G	ENSP00000359763:p.Asn81Asp					LPHN2_ENST00000370713.1_Missense_Mutation_p.N81D|LPHN2_ENST00000319517.6_Missense_Mutation_p.N81D|LPHN2_ENST00000370730.1_Missense_Mutation_p.N81D|LPHN2_ENST00000370725.1_Missense_Mutation_p.N81D|LPHN2_ENST00000370721.1_Missense_Mutation_p.N81D|LPHN2_ENST00000370727.1_Missense_Mutation_p.N81D|LPHN2_ENST00000271029.4_Missense_Mutation_p.N81D|LPHN2_ENST00000370715.1_Missense_Mutation_p.N81D|LPHN2_ENST00000394879.1_Missense_Mutation_p.N81D|LPHN2_ENST00000359929.3_Missense_Mutation_p.N81D|LPHN2_ENST00000370717.2_Missense_Mutation_p.N81D|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370723.1_Missense_Mutation_p.N81D|LPHN2_ENST00000335786.5_Missense_Mutation_p.N81D	p.N81D			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	6	886	+			81			SUEL-type lectin.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.241A>G		.	.	.	.	.	.	.	.	.	.	A	28.8	4.954578	0.92726	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.24160	0.0585	L	0.45137	1.4	0.80722	D	1	D;D;D;P	0.76494	0.997;0.993;0.999;0.867	D;D;D;D	0.91635	0.998;0.994;0.999;0.969	T	0.01330	-1.1383	10	0.45353	T	0.12	.	15.1805	0.72952	1.0:0.0:0.0:0.0	.	81;81;81;81	O95490-3;O95490-4;O95490-2;B3KVU1	.;.;.;.	D	81	ENSP00000359756:N81D;ENSP00000359763:N81D;ENSP00000359765:N81D;ENSP00000359762:N81D;ENSP00000359760:N81D;ENSP00000359758:N81D;ENSP00000353006:N81D;ENSP00000359750:N81D;ENSP00000359748:N81D;ENSP00000322270:N81D;ENSP00000359752:N81D;ENSP00000378344:N81D;ENSP00000271029:N81D;ENSP00000337306:N81D	ENSP00000271029:N81D	N	+	1	0	LPHN2	82145457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.176000	0.94839	2.044000	0.60594	0.455000	0.32223	AAT		0.423	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		4	147	0	0	0	1	0	4	147				
MUC16	94025	broad.mit.edu	37	19	9024886	9024886	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:9024886T>C	ENST00000397910.4	-	16	37179	c.36976A>G	c.(36976-36978)Acc>Gcc	p.T12326A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12328	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTCATTGGTCAGTTTGCTT	0.557																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(36976-36978)Acc>Gcc		mucin 16, cell surface associated							153.0	141.0	145.0					19																	9024886		1975	4167	6142	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9024886T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36976A>G	19.37:g.9024886T>C	ENSP00000381008:p.Thr12326Ala						p.T12326A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			16	37179	-			12328			SEA 2.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.36976A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	10.29	1.308035	0.23821	.	.	ENSG00000181143	ENST00000397910	T	0.41065	1.01	2.73	2.73	0.32206	.	.	.	.	.	T	0.64832	0.2634	M	0.88979	2.995	.	.	.	D	0.71674	0.998	D	0.79108	0.992	T	0.73920	-0.3830	8	0.87932	D	0	.	7.2723	0.26264	0.0:0.0:0.0:1.0	.	12326	B5ME49	.	A	12326	ENSP00000381008:T12326A	ENSP00000381008:T12326A	T	-	1	0	MUC16	8885886	0.994000	0.37717	0.044000	0.18714	0.005000	0.04900	4.444000	0.60001	1.490000	0.48466	0.352000	0.21897	ACC		0.557	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		68	212	0	0	0	1	0	68	212				
OR56B4	196335	broad.mit.edu	37	11	6129910	6129910	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:6129910A>G	ENST00000316529.3	+	1	997	c.902A>G	c.(901-903)cAc>cGc	p.H301R	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCAGGATGCACAAACTCAGA	0.493																																						ENST00000316529.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21						c.(901-903)cAc>cGc		olfactory receptor, family 56, subfamily B, member 4							88.0	91.0	90.0					11																	6129910		2201	4296	6497	SO:0001583	missense	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129910A>G	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.902A>G	11.37:g.6129910A>G	ENSP00000321196:p.His301Arg					RP11-290F24.3_ENST00000529961.1_RNA	p.H301R	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	997	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	301					Q6IFD7	Missense_Mutation	SNP	ENST00000316529.3	37	c.902A>G	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	A	7.696	0.692165	0.15039	.	.	ENSG00000180919	ENST00000316529	T	0.33865	1.39	4.01	2.86	0.33363	.	0.456008	0.15928	U	0.237814	T	0.18383	0.0441	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17077	-1.0381	10	0.62326	D	0.03	.	7.3972	0.26944	0.8038:0.0:0.1962:0.0	.	301	Q8NH76	O56B4_HUMAN	R	301	ENSP00000321196:H301R	ENSP00000321196:H301R	H	+	2	0	OR56B4	6086486	0.000000	0.05858	0.001000	0.08648	0.205000	0.24178	1.103000	0.31062	0.690000	0.31570	0.449000	0.29647	CAC		0.493	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		54	118	0	0	0	1	0	54	118				
TADA2A	6871	broad.mit.edu	37	17	35830624	35830624	+	Missense_Mutation	SNP	G	G	A	rs149845906	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:35830624G>A	ENST00000394395.2	+	13	1189	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	TADA2A_ENST00000225396.6_Missense_Mutation_p.R339Q|TADA2A_ENST00000591992.1_3'UTR	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	339					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)	p.R339Q(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TGGCTCCGCCGGCAAGCTGAC	0.512													G|||	3	0.000599042	0.0	0.0014	5008	,	,		17238	0.0		0.002	False		,,,				2504	0.0					ENST00000394395.2																			2	Substitution - Missense(2)	p.R339Q(2)	prostate(2)	breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						c.(1015-1017)cGg>cAg		transcriptional adaptor 2A		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	94.0	94.0		1016,1016	5.6	1.0	17	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TADA2A	NM_001166105.1,NM_001488.3	43,43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	339/444,339/444	35830624	2,13004	2203	4300	6503	SO:0001583	missense	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35830624G>A	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.1016G>A	17.37:g.35830624G>A	ENSP00000377918:p.Arg339Gln					TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Missense_Mutation_p.R339Q	p.R339Q	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN			13	1189	+			339					A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	37	c.1016G>A	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.687202	0.68157	2.27E-4	1.16E-4	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396	T;T	0.41758	0.99;0.99	5.61	5.61	0.85477	.	0.053182	0.85682	D	0.000000	T	0.20740	0.0499	N	0.08118	0	0.80722	D	1	P	0.39782	0.688	B	0.25291	0.059	T	0.11966	-1.0566	10	0.13108	T	0.6	-9.0685	19.6383	0.95746	0.0:0.0:1.0:0.0	.	339	O75478	TAD2A_HUMAN	Q	339;238;339	ENSP00000377918:R339Q;ENSP00000225396:R339Q	ENSP00000225396:R339Q	R	+	2	0	TADA2A	32904737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.374000	0.79633	2.631000	0.89168	0.655000	0.94253	CGG		0.512	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		4	119	0	0	0	1	0	4	119				
EIF4E	1977	broad.mit.edu	37	4	99809056	99809056	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:99809056T>C	ENST00000450253.2	-	4	1793	c.269A>G	c.(268-270)gAc>gGc	p.D90G	EIF4E_ENST00000504432.1_Missense_Mutation_p.D118G|EIF4E_ENST00000280892.6_Missense_Mutation_p.D110G|EIF4E_ENST00000505992.1_Missense_Mutation_p.D90G	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	90					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of mitotic cell cycle (GO:0045931)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|mRNA cap binding complex (GO:0005845)|RISC complex (GO:0016442)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		AAGTGAGTAGTCACAGCCAGG	0.294																																						ENST00000450253.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13						c.(268-270)gAc>gGc		eukaryotic translation initiation factor 4E							49.0	47.0	48.0					4																	99809056		2203	4295	6498	SO:0001583	missense	1977				G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr4:99809056T>C	M15353	CCDS34031.1, CCDS47109.1, CCDS54779.1	4q21-q25	2008-02-05			ENSG00000151247	ENSG00000151247			3287	protein-coding gene	gene with protein product		133440		EIF4EL1, EIF4F		9330633, 1916814	Standard	NM_001968		Approved	EIF4E1	uc011cea.1	P06730	OTTHUMG00000161090	ENST00000450253.2:c.269A>G	4.37:g.99809056T>C	ENSP00000389624:p.Asp90Gly					EIF4E_ENST00000280892.6_Missense_Mutation_p.D110G|EIF4E_ENST00000505992.1_Missense_Mutation_p.D90G|EIF4E_ENST00000504432.1_Missense_Mutation_p.D118G	p.D90G	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)	4	1793	-			90					B7Z6V1|D6RCQ6|Q96E95	Missense_Mutation	SNP	ENST00000450253.2	37	c.269A>G	CCDS34031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.7|27.7	4.851797|4.851797	0.91355|0.91355	.|.	.|.	ENSG00000151247|ENSG00000151247	ENST00000450253;ENST00000280892;ENST00000504432;ENST00000505992|ENST00000511644	T;T;T;T|.	0.53640|.	0.72;0.72;0.72;0.61|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Translation Initiation factor eIF- 4e-like  domain (2);Eukaryotic translation initiation factor 4E (eIF-4E), conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87720|.	0.6248|.	H|H	0.96518|0.96518	3.835|3.835	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.42337|.	0.602;0.681;0.776;0.651|.	P;P;P;P|.	0.61800|.	0.838;0.519;0.894;0.852|.	D|.	0.91575|.	0.5274|.	10|.	0.87932|.	D|.	0|.	-19.5055|-19.5055	16.1293|16.1293	0.81414|0.81414	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	90;90;110;90|.	B7Z2T1;P06730-2;B7Z6V1;P06730|.	.;.;.;IF4E_HUMAN|.	G|W	90;110;118;90|86	ENSP00000389624:D90G;ENSP00000280892:D110G;ENSP00000423977:D118G;ENSP00000425561:D90G|.	ENSP00000280892:D110G|.	D|X	-|-	2|3	0|0	EIF4E|EIF4E	100028079|100028079	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.844000|7.844000	0.86867|0.86867	2.212000|2.212000	0.71576|0.71576	0.460000|0.460000	0.39030|0.39030	GAC|TGA		0.294	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	NM_001968		8	20	0	0	0	1	0	8	20				
PCDHB14	56122	broad.mit.edu	37	5	140605320	140605320	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140605320G>C	ENST00000239449.4	+	1	2243	c.2243G>C	c.(2242-2244)aGc>aCc	p.S748T	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S595T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	748					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTCCCAGAGCTACCAATAC	0.582																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(2242-2244)aGc>aCc									92.0	106.0	101.0					5																	140605320		2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140605320G>C	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2243G>C	5.37:g.140605320G>C	ENSP00000239449:p.Ser748Thr					PCDHB14_ENST00000515856.2_Missense_Mutation_p.S595T	p.S748T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2243	+			748					B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.2243G>C	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	5.273	0.235718	0.10023	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.11063	2.81;2.81	4.2	3.31	0.37934	.	.	.	.	.	T	0.11281	0.0275	M	0.71581	2.175	0.19575	N	0.999967	B	0.26876	0.162	B	0.24974	0.057	T	0.36768	-0.9734	9	0.14656	T	0.56	.	4.9525	0.14021	0.2012:0.3109:0.4879:0.0	.	748	Q9Y5E9	PCDBE_HUMAN	T	595;748	ENSP00000444518:S595T;ENSP00000239449:S748T	ENSP00000239449:S748T	S	+	2	0	PCDHB14	140585504	0.000000	0.05858	0.950000	0.38849	0.029000	0.11900	-0.376000	0.07465	0.848000	0.35191	0.586000	0.80456	AGC		0.582	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		54	214	0	0	0	1	0	54	214				
GSDMD	79792	broad.mit.edu	37	8	144644191	144644191	+	Missense_Mutation	SNP	A	A	T	rs541934814		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:144644191A>T	ENST00000526406.1	+	11	1769	c.886A>T	c.(886-888)Acc>Tcc	p.T296S	GSDMD_ENST00000262580.4_Missense_Mutation_p.T296S|GSDMD_ENST00000533063.1_Missense_Mutation_p.T344S	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	296					cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGAGGTGGAGACCATCTCCAA	0.642																																						ENST00000526406.1																			0				breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(886-888)Acc>Tcc		gasdermin D							60.0	61.0	61.0					8																	144644191		2202	4300	6502	SO:0001583	missense	79792							g.chr8:144644191A>T	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.886A>T	8.37:g.144644191A>T	ENSP00000433209:p.Thr296Ser					GSDMD_ENST00000262580.4_Missense_Mutation_p.T296S|GSDMD_ENST00000533063.1_Missense_Mutation_p.T344S	p.T296S	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN			11	1769	+			296					D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	37	c.886A>T	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	A	5.790	0.330116	0.10956	.	.	ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580	T;T;T	0.21031	2.03;2.03;2.03	4.29	-0.592	0.11671	.	1.430660	0.03944	N	0.287421	T	0.09818	0.0241	N	0.11427	0.14	0.09310	N	1	B;B;B	0.25441	0.126;0.126;0.103	B;B;B	0.25506	0.061;0.061;0.036	T	0.22103	-1.0226	10	0.09084	T	0.74	-6.0785	4.3439	0.11124	0.3712:0.1627:0.4661:0.0	.	296;296;344	A8K702;P57764;G3V1A6	.;GSDMD_HUMAN;.	S	296;344;296	ENSP00000433209:T296S;ENSP00000433958:T344S;ENSP00000262580:T296S	ENSP00000262580:T296S	T	+	1	0	GSDMD	144715334	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.627000	0.24506	-0.124000	0.11724	-0.241000	0.12123	ACC		0.642	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		18	88	0	0	0	1	0	18	88				
ZNF268	10795	broad.mit.edu	37	12	133779106	133779106	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:133779106C>T	ENST00000536435.2	+	6	1164	c.834C>T	c.(832-834)tgC>tgT	p.C278C	ZNF268_ENST00000228289.5_Silent_p.C278C|ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000537565.1_Silent_p.C117C|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	278					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CCTTTGGATGCAGCTGTTGTG	0.403																																						ENST00000536435.2																			0				NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24						c.(832-834)tgC>tgT		zinc finger protein 268							28.0	30.0	30.0					12																	133779106		2072	4224	6296	SO:0001819	synonymous_variant	10795					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133779106C>T	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.834C>T	12.37:g.133779106C>T						ZNF268_ENST00000228289.5_Silent_p.C278C|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Silent_p.C117C|ZNF268_ENST00000542711.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR	p.C278C	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	6	1164	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)	278					Q8TDG8|Q96RH4|Q9BZJ9	Silent	SNP	ENST00000536435.2	37	c.834C>T	CCDS45012.1																																																																																				0.403	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943		5	12	0	0	0	1	0	5	12				
RAG1	5896	broad.mit.edu	37	11	36594923	36594923	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:36594923T>G	ENST00000299440.5	+	2	181	c.69T>G	c.(67-69)atT>atG	p.I23M		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	23	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ACCCACATATTAAATTTTCAG	0.448									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(67-69)atT>atG		recombination activating gene 1							54.0	58.0	57.0					11																	36594923		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36594923T>G	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.69T>G	11.37:g.36594923T>G	ENSP00000299440:p.Ile23Met						p.I23M	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	181	+	all_lung(20;0.226)	all_hematologic(20;0.107)	23			Interaction with importin alpha-1.		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.69T>G	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.749254	0.49257	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.70986	-0.53;-0.53	6.14	-2.38	0.06622	.	0.444717	0.24132	N	0.041249	T	0.48169	0.1485	N	0.25647	0.755	0.19300	N	0.999975	B	0.06786	0.001	B	0.04013	0.001	T	0.26292	-1.0107	10	0.38643	T	0.18	.	5.3518	0.16040	0.0819:0.1233:0.423:0.3718	.	23	P15918	RAG1_HUMAN	M	23	ENSP00000434610:I23M;ENSP00000299440:I23M	ENSP00000299440:I23M	I	+	3	3	RAG1	36551499	0.152000	0.22762	0.975000	0.42487	0.981000	0.71138	-0.516000	0.06282	-0.063000	0.13065	0.529000	0.55759	ATT		0.448	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		4	106	0	0	0	1	0	4	106				
BHLHE22	27319	broad.mit.edu	37	8	65493811	65493811	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:65493811G>A	ENST00000321870.1	+	1	998	c.464G>A	c.(463-465)cGc>cAc	p.R155H	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	155	Gly-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						AGCGACGGTCGCTGCGAGCTC	0.751																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			0				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(463-465)cGc>cAc		basic helix-loop-helix family, member e22							2.0	4.0	3.0					8																	65493811		1407	3024	4431	SO:0001583	missense	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65493811G>A	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.464G>A	8.37:g.65493811G>A	ENSP00000318799:p.Arg155His					RP11-21C4.1_ENST00000517909.1_RNA	p.R155H	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	998	+			155			Gly-rich.			Missense_Mutation	SNP	ENST00000321870.1	37	c.464G>A	CCDS6179.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.373885	0.61624	.	.	ENSG00000180828	ENST00000321870	D	0.97041	-4.22	3.7	3.7	0.42460	.	0.000000	0.64402	U	0.000003	D	0.96993	0.9018	L	0.32530	0.975	0.44807	D	0.997812	D	0.89917	1.0	D	0.80764	0.994	D	0.97710	1.0190	10	0.66056	D	0.02	.	15.2395	0.73458	0.0:0.0:1.0:0.0	.	155	Q8NFJ8	BHE22_HUMAN	H	155	ENSP00000318799:R155H	ENSP00000318799:R155H	R	+	2	0	BHLHE22	65656365	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.000000	0.76290	1.902000	0.55061	0.455000	0.32223	CGC		0.751	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		8	10	0	0	0	1	0	8	10				
DAGLB	221955	broad.mit.edu	37	7	6476142	6476142	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:6476142C>T	ENST00000297056.6	-	3	439	c.270G>A	c.(268-270)ccG>ccA	p.P90P	DAGLB_ENST00000428902.2_Intron|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000436575.1_Silent_p.P49P|DAGLB_ENST00000425398.2_Silent_p.P90P|DAGLB_ENST00000479922.2_5'UTR	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	90					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TAGACTTCCGCGGTCCAGGGT	0.498																																						ENST00000297056.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26						c.(268-270)ccG>ccA		diacylglycerol lipase, beta							76.0	83.0	80.0					7																	6476142		2203	4300	6503	SO:0001819	synonymous_variant	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6476142C>T	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.270G>A	7.37:g.6476142C>T						DAGLB_ENST00000436575.1_Silent_p.P49P|DAGLB_ENST00000425398.2_Silent_p.P90P|DAGLB_ENST00000428902.2_Intron|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000479922.2_5'UTR	p.P90P	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	3	439	-		Ovarian(82;0.232)	90					A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Silent	SNP	ENST00000297056.6	37	c.270G>A	CCDS5350.1																																																																																				0.498	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		43	127	0	0	0	1	0	43	127				
CPXM1	56265	broad.mit.edu	37	20	2776744	2776744	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:2776744T>C	ENST00000380605.2	-	10	1370	c.1306A>G	c.(1306-1308)Aat>Gat	p.N436D		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	436					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TCAGCAAAATTATGGTTAAGA	0.577																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1306-1308)Aat>Gat		carboxypeptidase X (M14 family), member 1							119.0	114.0	116.0					20																	2776744		2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2776744T>C	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1306A>G	20.37:g.2776744T>C	ENSP00000369979:p.Asn436Asp						p.N436D	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			10	1370	-			436					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1306A>G	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.127938	0.77549	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.04654	3.58	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	L	0.43598	1.365	0.58432	D	0.999994	D;D	0.76494	0.99;0.999	D;D	0.87578	0.929;0.998	T	0.01795	-1.1272	10	0.38643	T	0.18	-25.0333	13.4675	0.61263	0.0:0.0:0.0:1.0	.	436;436	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	D	436;132	ENSP00000369979:N436D	ENSP00000369979:N436D	N	-	1	0	CPXM1	2724744	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.868000	0.87116	2.279000	0.76181	0.533000	0.62120	AAT		0.577	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		24	95	0	0	0	1	0	24	95				
P4HA1	5033	broad.mit.edu	37	10	74770751	74770751	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:74770751A>G	ENST00000307116.2	-	13	1529	c.1413T>C	c.(1411-1413)gtT>gtC	p.V471V	P4HA1_ENST00000440381.1_Silent_p.V453V|P4HA1_ENST00000394890.2_Silent_p.V471V|P4HA1_ENST00000373008.2_Silent_p.V471V|P4HA1_ENST00000263556.3_Silent_p.V471V|P4HA1_ENST00000412021.2_Silent_p.V471V			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	471	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CACTAGCTCCAACTTCAGGAA	0.373																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(1411-1413)gtT>gtC		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						91.0	86.0	88.0					10																	74770751		2203	4300	6503	SO:0001819	synonymous_variant	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74770751A>G		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.1413T>C	10.37:g.74770751A>G						P4HA1_ENST00000307116.2_Silent_p.V471V|P4HA1_ENST00000440381.1_Silent_p.V453V|P4HA1_ENST00000394890.2_Silent_p.V471V|P4HA1_ENST00000263556.3_Silent_p.V471V|P4HA1_ENST00000373008.2_Silent_p.V471V	p.V471V	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			14	1746	-	Prostate(51;0.0198)		471			Fe2OG dioxygenase.		C9JL12|Q15082|Q15083|Q5VSQ5	Silent	SNP	ENST00000307116.2	37	c.1413T>C																																																																																					0.373	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		21	70	0	0	0	1	0	21	70				
HAUS6	54801	broad.mit.edu	37	9	19076689	19076689	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:19076689A>G	ENST00000380502.3	-	11	1672	c.1205T>C	c.(1204-1206)tTa>tCa	p.L402S	RNU6-264P_ENST00000517134.1_RNA|HAUS6_ENST00000380496.1_Missense_Mutation_p.L266S	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	402					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CATTGGTGGTAAAAGATCTAC	0.338																																						ENST00000380502.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1204-1206)tTa>tCa		HAUS augmin-like complex, subunit 6							72.0	68.0	69.0					9																	19076689		2203	4300	6503	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19076689A>G	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1205T>C	9.37:g.19076689A>G	ENSP00000369871:p.Leu402Ser					HAUS6_ENST00000380496.1_Missense_Mutation_p.L266S	p.L402S	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN			11	1672	-			402					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.1205T>C	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615034	0.66672	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	T;T	0.30981	1.67;1.51	5.32	5.32	0.75619	.	0.438746	0.21241	N	0.077805	T	0.53334	0.1790	M	0.77616	2.38	0.27524	N	0.951292	D;D;D;D	0.89917	0.998;0.996;1.0;0.998	D;D;D;D	0.77557	0.923;0.923;0.99;0.923	T	0.53500	-0.8430	10	0.72032	D	0.01	-9.7051	8.9128	0.35563	0.8337:0.0:0.0:0.1663	.	367;402;266;402	Q7Z4H7-3;Q7Z4H7-2;Q5VY60;Q7Z4H7	.;.;.;HAUS6_HUMAN	S	402;266	ENSP00000369871:L402S;ENSP00000369865:L266S	ENSP00000369865:L266S	L	-	2	0	HAUS6	19066689	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.786000	0.55431	2.131000	0.65755	0.402000	0.26972	TTA		0.338	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		15	55	0	0	0	1	0	15	55				
SLC39A5	283375	broad.mit.edu	37	12	56629106	56629106	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56629106C>T	ENST00000266980.4	+	5	1093	c.800C>T	c.(799-801)cCg>cTg	p.P267L	SLC39A5_ENST00000454355.2_Missense_Mutation_p.P267L|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	267					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CATCTGCTACCGCATGTATGT	0.607																																						ENST00000266980.4																			0				NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(799-801)cCg>cTg		solute carrier family 39 (zinc transporter), member 5							135.0	117.0	123.0					12																	56629106		2203	4300	6503	SO:0001583	missense	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56629106C>T		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.800C>T	12.37:g.56629106C>T	ENSP00000266980:p.Pro267Leu					SLC39A5_ENST00000454355.2_Missense_Mutation_p.P267L	p.P267L	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			5	1093	+			267					B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	c.800C>T	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392088	0.83011	.	.	ENSG00000139540	ENST00000454355;ENST00000436633;ENST00000266980	T;D;T	0.93953	-0.05;-3.32;-0.05	4.44	4.44	0.53790	.	0.000000	0.64402	D	0.000011	D	0.97788	0.9274	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99113	1.0847	10	0.87932	D	0	-16.8209	16.703	0.85364	0.0:1.0:0.0:0.0	.	267;158	Q6ZMH5;B4DPG8	S39A5_HUMAN;.	L	267;238;267	ENSP00000405360:P267L;ENSP00000391711:P238L;ENSP00000266980:P267L	ENSP00000266980:P267L	P	+	2	0	SLC39A5	54915373	1.000000	0.71417	0.979000	0.43373	0.594000	0.36715	5.207000	0.65197	2.420000	0.82092	0.561000	0.74099	CCG		0.607	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		56	150	0	0	0	1	0	56	150				
PDCD10	11235	broad.mit.edu	37	3	167405034	167405034	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:167405034A>G	ENST00000392750.2	-	8	962	c.545T>C	c.(544-546)tTt>tCt	p.F182S	PDCD10_ENST00000492396.1_Missense_Mutation_p.F119S|PDCD10_ENST00000473645.2_Missense_Mutation_p.F182S|PDCD10_ENST00000471885.1_Missense_Mutation_p.F182S|PDCD10_ENST00000487947.2_Missense_Mutation_p.F182S|PDCD10_ENST00000497056.2_Missense_Mutation_p.F182S|PDCD10_ENST00000470131.1_Missense_Mutation_p.F182S|PDCD10_ENST00000461494.1_Missense_Mutation_p.F182S	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	182					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						GCCATCTTTAAAATACGTTTT	0.264																																						ENST00000392750.2																			0				central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						c.(544-546)tTt>tCt		programmed cell death 10							45.0	48.0	47.0					3																	167405034		2202	4282	6484	SO:0001583	missense	11235				angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding	g.chr3:167405034A>G	AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"""cerebral cavernous malformations 3"""	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.545T>C	3.37:g.167405034A>G	ENSP00000376506:p.Phe182Ser					PDCD10_ENST00000473645.2_Missense_Mutation_p.F182S|PDCD10_ENST00000471885.1_Missense_Mutation_p.F182S|PDCD10_ENST00000497056.2_Missense_Mutation_p.F182S|PDCD10_ENST00000461494.1_Missense_Mutation_p.F182S|PDCD10_ENST00000470131.1_Missense_Mutation_p.F182S|PDCD10_ENST00000492396.1_Missense_Mutation_p.F119S|PDCD10_ENST00000487947.2_Missense_Mutation_p.F182S	p.F182S	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN			8	962	-			182					A8K515|D3DNN5|O14811	Missense_Mutation	SNP	ENST00000392750.2	37	c.545T>C	CCDS3202.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.131106	0.77549	.	.	ENSG00000114209	ENST00000392750;ENST00000473645;ENST00000497056;ENST00000492396;ENST00000461494;ENST00000470131;ENST00000475915;ENST00000487947;ENST00000471885	T;T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;2.03;-0.07;-0.07;-0.05;-0.07;-0.07	6.03	4.86	0.63082	.	0.045544	0.85682	D	0.000000	T	0.77287	0.4108	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79465	-0.1792	10	0.87932	D	0	-11.2717	13.5628	0.61799	0.8702:0.1298:0.0:0.0	.	182	Q9BUL8	PDC10_HUMAN	S	182;182;182;119;182;182;182;182;182	ENSP00000376506:F182S;ENSP00000418317:F182S;ENSP00000420553:F182S;ENSP00000417309:F119S;ENSP00000420021:F182S;ENSP00000417202:F182S;ENSP00000417118:F182S;ENSP00000420266:F182S;ENSP00000417876:F182S	ENSP00000376506:F182S	F	-	2	0	PDCD10	168887728	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.339000	0.96797	1.084000	0.41184	-0.313000	0.08912	TTT		0.264	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350966.2	NM_007217		16	35	0	0	0	1	0	16	35				
MDH1B	130752	broad.mit.edu	37	2	207619851	207619851	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:207619851C>T	ENST00000374412.3	-	5	1067	c.792G>A	c.(790-792)aaG>aaA	p.K264K	MDH1B_ENST00000454776.2_Silent_p.K264K|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000449792.1_Silent_p.K166K	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	264					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GTAAAACTGTCTTCAGGTTTA	0.502																																					Pancreas(76;29 1355 28675 37177 51207)	ENST00000374412.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34						c.(790-792)aaG>aaA		malate dehydrogenase 1B, NAD (soluble)							133.0	118.0	123.0					2																	207619851		2203	4300	6503	SO:0001819	synonymous_variant	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207619851C>T		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.792G>A	2.37:g.207619851C>T						MDH1B_ENST00000449792.1_Silent_p.K166K|MDH1B_ENST00000454776.2_Silent_p.K264K|MDH1B_ENST00000392214.2_Intron	p.K264K	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	5	1067	-			264					A8K8M1|Q53TK9|Q8IV51	Silent	SNP	ENST00000374412.3	37	c.792G>A	CCDS33365.1																																																																																				0.502	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		33	106	0	0	0	1	0	33	106				
ZFHX3	463	broad.mit.edu	37	16	72821729	72821729	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:72821729G>A	ENST00000268489.5	-	10	11118	c.10446C>T	c.(10444-10446)agC>agT	p.S3482S	AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Silent_p.S2568S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3482					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACTTCAGGTGGCTCCTCGCTG	0.642																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10444-10446)agC>agT		zinc finger homeobox 3							58.0	56.0	57.0					16																	72821729		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821729G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10446C>T	16.37:g.72821729G>A						ZFHX3_ENST00000397992.5_Silent_p.S2568S	p.S3482S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11118	-		Ovarian(137;0.13)	3482					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10446C>T	CCDS10908.1																																																																																				0.642	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		24	88	0	0	0	1	0	24	88				
MZF1	7593	broad.mit.edu	37	19	59074233	59074233	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:59074233T>C	ENST00000215057.2	-	6	1971	c.1411A>G	c.(1411-1413)Aag>Gag	p.K471E	MZF1_ENST00000599369.1_Missense_Mutation_p.K471E|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	471	Gly/Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCCGGGGGCTTAGCGCCAGGG	0.726																																						ENST00000215057.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1411-1413)Aag>Gag		myeloid zinc finger 1							4.0	6.0	5.0					19																	59074233		1980	4057	6037	SO:0001583	missense	7593				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:59074233T>C	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.1411A>G	19.37:g.59074233T>C	ENSP00000215057:p.Lys471Glu					MZF1_ENST00000599369.1_Missense_Mutation_p.K471E|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000600726.1_RNA	p.K471E	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	6	1971	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	471			Gly/Pro-rich.		M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	37	c.1411A>G	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	.	4.423	0.078323	0.08485	.	.	ENSG00000099326	ENST00000215057	T	0.06849	3.25	3.7	-4.05	0.03998	.	2.251960	0.02187	N	0.060993	T	0.09468	0.0233	L	0.45470	1.425	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39901	-0.9591	10	0.42905	T	0.14	0.1854	9.6661	0.39986	0.0:0.2846:0.0:0.7154	.	471	P28698	MZF1_HUMAN	E	471	ENSP00000215057:K471E	ENSP00000215057:K471E	K	-	1	0	MZF1	63766045	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-4.246000	0.00267	-0.769000	0.04620	-0.468000	0.05107	AAG		0.726	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		5	9	0	0	0	1	0	5	9				
IGF1R	3480	broad.mit.edu	37	15	99472871	99472871	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:99472871A>G	ENST00000268035.6	+	14	3478	c.2867A>G	c.(2866-2868)tAc>tGc	p.Y956C	IGF1R_ENST00000558762.1_Missense_Mutation_p.Y955C	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	956					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	ATTATGCTGTACGTCTTCCAT	0.448																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2866-2868)tAc>tGc		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						199.0	171.0	181.0					15																	99472871		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99472871A>G	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2867A>G	15.37:g.99472871A>G	ENSP00000268035:p.Tyr956Cys					IGF1R_ENST00000558762.1_Missense_Mutation_p.Y955C	p.Y956C	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		14	3478	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		956					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.2867A>G	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.105864	0.37145	.	.	ENSG00000140443	ENST00000268035	T	0.76839	-1.05	5.67	5.67	0.87782	.	0.114561	0.38959	N	0.001511	T	0.65375	0.2685	N	0.21448	0.665	0.51482	D	0.999929	B;B	0.06786	0.001;0.001	B;B	0.12837	0.002;0.008	T	0.62243	-0.6895	10	0.49607	T	0.09	.	11.0573	0.47927	0.8616:0.0:0.0:0.1384	.	955;956	C9J5X1;P08069	.;IGF1R_HUMAN	C	956	ENSP00000268035:Y956C	ENSP00000268035:Y956C	Y	+	2	0	IGF1R	97290394	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	5.282000	0.65615	2.148000	0.66965	0.533000	0.62120	TAC		0.448	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		18	75	0	0	0	1	0	18	75				
IFT122	55764	broad.mit.edu	37	3	129236439	129236439	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:129236439T>C	ENST00000348417.2	+	27	3468		c.e27+2		IFT122_ENST00000296266.3_Splice_Site|IFT122_ENST00000347300.2_Splice_Site|IFT122_ENST00000431818.2_Splice_Site|IFT122_ENST00000504021.1_Splice_Site|IFT122_ENST00000507564.1_Splice_Site|IFT122_ENST00000349441.2_Splice_Site|IFT122_ENST00000440957.2_Splice_Site	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122						camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CAAACAACAGTATCCATGCCC	0.602																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.e28+2		intraflagellar transport 122 homolog (Chlamydomonas)							153.0	141.0	145.0					3																	129236439		2203	4300	6503	SO:0001630	splice_region_variant	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129236439T>C	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.3391+2T>C	3.37:g.129236439T>C						IFT122_ENST00000440957.2_Splice_Site|IFT122_ENST00000348417.2_Splice_Site|IFT122_ENST00000431818.2_Splice_Site|IFT122_ENST00000347300.2_Splice_Site|IFT122_ENST00000349441.2_Splice_Site|IFT122_ENST00000507564.1_Splice_Site|IFT122_ENST00000504021.1_Splice_Site		NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			28	3736	+								B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Splice_Site	SNP	ENST00000348417.2	37		CCDS3061.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.850552	0.32699	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.676	0.68981	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	IFT122	130719129	1.000000	0.71417	0.982000	0.44146	0.040000	0.13550	4.045000	0.57368	1.874000	0.54306	0.533000	0.62120	.		0.602	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262	Intron	44	119	0	0	0	1	0	44	119				
EHD1	10938	broad.mit.edu	37	11	64622229	64622229	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:64622229A>G	ENST00000320631.3	-	5	1435	c.1181T>C	c.(1180-1182)aTg>aCg	p.M394T	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Missense_Mutation_p.M394T	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	394					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CACCATCACCATCAGCCGCGC	0.642																																						ENST00000320631.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1180-1182)aTg>aCg		EH-domain containing 1							197.0	182.0	187.0					11																	64622229		2201	4297	6498	SO:0001583	missense	10938				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr11:64622229A>G	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1181T>C	11.37:g.64622229A>G	ENSP00000320516:p.Met394Thr					EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Missense_Mutation_p.M394T	p.M394T	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN			5	1435	-			394					O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	c.1181T>C	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.111198	0.77210	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421510	T;T;T	0.52057	2.04;2.04;0.68	4.56	4.56	0.56223	.	0.112102	0.85682	D	0.000000	T	0.56001	0.1956	M	0.83223	2.63	0.80722	D	1	P;P	0.47409	0.895;0.895	P;P	0.45753	0.492;0.492	T	0.65508	-0.6151	10	0.87932	D	0	.	11.9058	0.52711	1.0:0.0:0.0:0.0	.	394;394	B2R5U3;Q9H4M9	.;EHD1_HUMAN	T	394;394;370;258	ENSP00000320516:M394T;ENSP00000352354:M394T;ENSP00000391429:M258T	ENSP00000320516:M394T	M	-	2	0	EHD1	64378805	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.047000	0.93823	1.928000	0.55862	0.459000	0.35465	ATG		0.642	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2	NM_006795		107	304	0	0	0	1	0	107	304				
GRIK5	2901	broad.mit.edu	37	19	42510946	42510946	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:42510946T>C	ENST00000262895.3	-	15	1887	c.1888A>G	c.(1888-1890)Atc>Gtc	p.I630V	GRIK5_ENST00000301218.4_Missense_Mutation_p.I630V|GRIK5_ENST00000593562.1_Missense_Mutation_p.I630V	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	630					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GAGATGATGATCAAGGTGAAG	0.652																																						ENST00000262895.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1888-1890)Atc>Gtc		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)						54.0	43.0	47.0					19																	42510946		2203	4300	6503	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42510946T>C		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1888A>G	19.37:g.42510946T>C	ENSP00000262895:p.Ile630Val					GRIK5_ENST00000593562.1_Missense_Mutation_p.I630V|GRIK5_ENST00000301218.4_Missense_Mutation_p.I630V	p.I630V	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN			15	1887	-		Prostate(69;0.059)	630					Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.1888A>G	CCDS12595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.9|23.9	4.470916|4.470916	0.84533|0.84533	.|.	.|.	ENSG00000105737|ENSG00000105737	ENST00000454993|ENST00000262895;ENST00000301218	.|T;T	.|0.56103	.|0.48;0.48	5.36|5.36	5.36|5.36	0.76844|0.76844	.|Ionotropic glutamate receptor (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74275|0.74275	0.3695|0.3695	M|M	0.82323|0.82323	2.585|2.585	0.53688|0.53688	D|D	0.999977|0.999977	.|D	.|0.67145	.|0.996	.|D	.|0.91635	.|0.999	T|T	0.78932|0.78932	-0.2009|-0.2009	5|10	.|0.87932	.|D	.|0	.|.	14.3373|14.3373	0.66600|0.66600	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|630	.|Q16478	.|GRIK5_HUMAN	G|V	6|630	.|ENSP00000262895:I630V;ENSP00000301218:I630V	.|ENSP00000262895:I630V	D|I	-|-	2|1	0|0	GRIK5|GRIK5	47202786|47202786	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.027000|8.027000	0.88791|0.88791	2.040000|2.040000	0.60383|0.60383	0.460000|0.460000	0.39030|0.39030	GAT|ATC		0.652	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			6	39	0	0	0	1	0	6	39				
SRRM2	23524	broad.mit.edu	37	16	2816806	2816806	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2816806C>T	ENST00000301740.8	+	11	6826	c.6277C>T	c.(6277-6279)Cct>Tct	p.P2093S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2093	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ATCTGCTACTCCTCCAGCAAC	0.517																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(6277-6279)Cct>Tct		serine/arginine repetitive matrix 2							169.0	140.0	150.0					16																	2816806		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2816806C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6277C>T	16.37:g.2816806C>T	ENSP00000301740:p.Pro2093Ser						p.P2093S	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	6826	+			2093			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.6277C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418153	0.25552	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.46063	0.88	5.34	5.34	0.76211	.	0.095879	0.46758	N	0.000267	T	0.50616	0.1626	N	0.19112	0.55	0.38554	D	0.949545	D	0.89917	1.0	D	0.80764	0.994	T	0.58375	-0.7647	10	0.66056	D	0.02	-14.1585	16.5251	0.84328	0.0:1.0:0.0:0.0	.	2093	Q9UQ35	SRRM2_HUMAN	S	2093;1345	ENSP00000301740:P2093S	ENSP00000301740:P2093S	P	+	1	0	SRRM2	2756807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.171000	0.42453	2.514000	0.84764	0.655000	0.94253	CCT		0.517	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			31	241	0	0	0	1	0	31	241				
PENK	5179	broad.mit.edu	37	8	57358360	57358360	+	Intron	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:57358360G>A	ENST00000314922.3	-	1	215				PENK_ENST00000523051.1_Intron|PENK_ENST00000451791.2_Intron|RP11-17A4.2_ENST00000518662.1_RNA|PENK_ENST00000523274.1_5'Flank|PENK_ENST00000518770.1_Silent_p.R51R	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin						aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			AACACTCGCCGCGCGCAACAC	0.677																																						ENST00000518770.1																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21						c.(151-153)cgC>cgT		proenkephalin							52.0	53.0	52.0					8																	57358360		2203	4300	6503	SO:0001627	intron_variant	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57358360G>A		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.138+14C>T	8.37:g.57358360G>A						PENK_ENST00000451791.2_Intron|PENK_ENST00000523051.1_Intron|PENK_ENST00000314922.3_Intron	p.R51R			P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		3	306	-		all_lung(136;0.229)	47					B2RC23|Q6FHC6|Q6FHE6	Silent	SNP	ENST00000314922.3	37	c.153C>T	CCDS6168.1																																																																																				0.677	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			84	123	0	0	0	1	0	84	123				
MAP3K3	4215	broad.mit.edu	37	17	61769157	61769157	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:61769157C>T	ENST00000361733.3	+	14	1729	c.1409C>T	c.(1408-1410)aCg>aTg	p.T470M	MAP3K3_ENST00000579585.1_Missense_Mutation_p.T501M|MAP3K3_ENST00000361357.3_Missense_Mutation_p.T501M|MAP3K3_ENST00000584573.1_Missense_Mutation_p.T497M|MAP3K3_ENST00000577395.1_Missense_Mutation_p.T466M	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	470	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CGAAAGTACACGCGGCAGATC	0.577																																						ENST00000361357.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1501-1503)aCg>aTg		mitogen-activated protein kinase kinase kinase 3							171.0	160.0	164.0					17																	61769157		2203	4300	6503	SO:0001583	missense	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61769157C>T	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.1409C>T	17.37:g.61769157C>T	ENSP00000354485:p.Thr470Met					MAP3K3_ENST00000579585.1_Missense_Mutation_p.T501M|MAP3K3_ENST00000577395.1_Missense_Mutation_p.T466M|MAP3K3_ENST00000361733.3_Missense_Mutation_p.T470M|MAP3K3_ENST00000584573.1_Missense_Mutation_p.T497M	p.T501M	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN			15	1820	+			470			Protein kinase.		B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	c.1502C>T	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	C	33	5.229583	0.95173	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.64085	-0.08;-0.08	5.61	5.61	0.85477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050671	0.85682	D	0.000000	T	0.67287	0.2877	N	0.11927	0.2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.996;0.992	T	0.73997	-0.3806	10	0.87932	D	0	.	19.6278	0.95687	0.0:1.0:0.0:0.0	.	466;438;470;501	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	M	501;470	ENSP00000354927:T501M;ENSP00000354485:T470M	ENSP00000354927:T501M	T	+	2	0	MAP3K3	59122889	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	7.818000	0.86416	2.646000	0.89796	0.561000	0.74099	ACG		0.577	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		78	215	0	0	0	1	0	78	215				
WWP1	11059	broad.mit.edu	37	8	87474017	87474017	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:87474017C>A	ENST00000517970.1	+	24	2918	c.2611C>A	c.(2611-2613)Caa>Aaa	p.Q871K	WWP1_ENST00000341922.2_Missense_Mutation_p.Q741K|WWP1_ENST00000349423.2_Missense_Mutation_p.Q653K|WWP1_ENST00000265428.4_Missense_Mutation_p.Q871K	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	871	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TAATGGGCCTCAAAAGTTTTG	0.363																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(2611-2613)Caa>Aaa		WW domain containing E3 ubiquitin protein ligase 1							95.0	101.0	99.0					8																	87474017		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87474017C>A	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2611C>A	8.37:g.87474017C>A	ENSP00000427793:p.Gln871Lys					WWP1_ENST00000265428.4_Missense_Mutation_p.Q871K|WWP1_ENST00000341922.2_Missense_Mutation_p.Q741K|WWP1_ENST00000349423.2_Missense_Mutation_p.Q653K	p.Q871K	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			24	2918	+			871			HECT.		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.2611C>A	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876784	0.91664	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423;ENST00000520798	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	5.0	5.0	0.66597	HECT (4);	0.057124	0.64402	D	0.000001	T	0.75324	0.3834	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78435	-0.2205	10	0.72032	D	0.01	.	19.178	0.93611	0.0:1.0:0.0:0.0	.	871	Q9H0M0	WWP1_HUMAN	K	871;871;741;653;37	ENSP00000427793:Q871K;ENSP00000265428:Q871K;ENSP00000340564:Q741K;ENSP00000342665:Q653K;ENSP00000430228:Q37K	ENSP00000265428:Q871K	Q	+	1	0	WWP1	87543133	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.717000	0.92951	0.650000	0.86243	CAA		0.363	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		48	101	1	0	2.43468e-25	1	2.57753e-25	48	101				
FCRL5	83416	broad.mit.edu	37	1	157509085	157509085	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:157509085G>A	ENST00000361835.3	-	7	1350	c.1193C>T	c.(1192-1194)aCa>aTa	p.T398I	FCRL5_ENST00000368191.3_Missense_Mutation_p.T313I|FCRL5_ENST00000368190.3_Missense_Mutation_p.T398I|FCRL5_ENST00000356953.4_Missense_Mutation_p.T398I|FCRL5_ENST00000368189.3_Missense_Mutation_p.T398I	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	398	Ig-like C2-type 4.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACAGTGAAGTGTCACCTTGGC	0.522																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(1192-1194)aCa>aTa		Fc receptor-like 5							75.0	73.0	74.0					1																	157509085		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157509085G>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1193C>T	1.37:g.157509085G>A	ENSP00000354691:p.Thr398Ile					FCRL5_ENST00000356953.4_Missense_Mutation_p.T398I|FCRL5_ENST00000368190.3_Missense_Mutation_p.T398I|FCRL5_ENST00000368191.3_Missense_Mutation_p.T313I|FCRL5_ENST00000368189.3_Missense_Mutation_p.T398I	p.T398I	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			7	1350	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	398			Ig-like C2-type 4.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1193C>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	9.702	1.154807	0.21371	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	3.04	-2.35	0.06684	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	5.152140	0.00664	N	0.000601	T	0.14399	0.0348	M	0.83483	2.645	0.09310	N	1	P;B;B;B;P;B	0.49862	0.637;0.257;0.226;0.302;0.929;0.302	B;B;B;B;P;B	0.49528	0.295;0.062;0.18;0.103;0.614;0.205	T	0.14254	-1.0479	10	0.35671	T	0.21	.	5.8935	0.18927	0.0:0.1764:0.287:0.5366	.	429;313;398;398;398;398	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	I	398;398;398;313;398	ENSP00000354691:T398I;ENSP00000349434:T398I;ENSP00000357173:T398I;ENSP00000357174:T313I;ENSP00000357172:T398I	ENSP00000349434:T398I	T	-	2	0	FCRL5	155775709	0.001000	0.12720	0.000000	0.03702	0.134000	0.20937	-0.011000	0.12721	-0.187000	0.10516	0.313000	0.20887	ACA		0.522	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		17	60	0	0	0	1	0	17	60				
BMPER	168667	broad.mit.edu	37	7	34125525	34125525	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:34125525T>C	ENST00000297161.2	+	14	1940	c.1566T>C	c.(1564-1566)ttT>ttC	p.F522F	BMPER_ENST00000426693.1_Silent_p.F522F	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	522	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGGATGACTTTGCTGAATCTT	0.473																																						ENST00000297161.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1564-1566)ttT>ttC		BMP binding endothelial regulator							182.0	159.0	167.0					7																	34125525		2203	4300	6503	SO:0001819	synonymous_variant	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34125525T>C		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1566T>C	7.37:g.34125525T>C						BMPER_ENST00000426693.1_Silent_p.F522F	p.F522F	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN			14	1940	+			522			VWFD.		A8K1P8|Q8TF36	Silent	SNP	ENST00000297161.2	37	c.1566T>C	CCDS5442.1																																																																																				0.473	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		26	74	0	0	0	1	0	26	74				
TXNRD1	7296	broad.mit.edu	37	12	104705131	104705131	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:104705131T>C	ENST00000525566.1	+	5	502	c.478T>C	c.(478-480)Tcc>Ccc	p.S160P	TXNRD1_ENST00000354940.6_Missense_Mutation_p.S10P|TXNRD1_ENST00000524698.1_Missense_Mutation_p.S10P|TXNRD1_ENST00000388854.3_Missense_Mutation_p.S62P|TXNRD1_ENST00000542918.1_Missense_Mutation_p.S60P|TXNRD1_ENST00000378070.4_Missense_Mutation_p.S109P|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000503506.2_Missense_Mutation_p.S10P|TXNRD1_ENST00000429002.2_Missense_Mutation_p.S160P|TXNRD1_ENST00000526691.1_Missense_Mutation_p.S62P|TXNRD1_ENST00000397736.2_Missense_Mutation_p.S54P|TXNRD1_ENST00000526390.1_Missense_Mutation_p.S54P|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000427956.1_Missense_Mutation_p.S125P|TXNRD1_ENST00000526950.1_Missense_Mutation_p.S79P	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	160					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	TCTTCCCAAGTCCTATGACTA	0.438																																					Ovarian(139;555 1836 9186 9946 10884)	ENST00000526691.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.(184-186)Tcc>Ccc		thioredoxin reductase 1							100.0	90.0	93.0					12																	104705131		1916	4124	6040	SO:0001583	missense	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104705131T>C		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000525566.1:c.478T>C	12.37:g.104705131T>C	ENSP00000434516:p.Ser160Pro					TXNRD1_ENST00000503506.2_Missense_Mutation_p.S10P|TXNRD1_ENST00000354940.6_Missense_Mutation_p.S10P|TXNRD1_ENST00000378070.4_Missense_Mutation_p.S109P|TXNRD1_ENST00000427956.1_Missense_Mutation_p.S125P|TXNRD1_ENST00000429002.2_Missense_Mutation_p.S160P|TXNRD1_ENST00000525566.1_Missense_Mutation_p.S160P|TXNRD1_ENST00000388854.3_Missense_Mutation_p.S62P|TXNRD1_ENST00000397736.2_Missense_Mutation_p.S54P|TXNRD1_ENST00000524698.1_Missense_Mutation_p.S10P|TXNRD1_ENST00000526390.1_Missense_Mutation_p.S54P|TXNRD1_ENST00000542918.1_Missense_Mutation_p.S60P|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000526950.1_Missense_Mutation_p.S79P|TXNRD1_ENST00000529546.1_Intron	p.S62P	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN			3	640	+			160			Glutaredoxin.		B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	ENST00000525566.1	37	c.184T>C	CCDS53820.1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.806823	0.50421	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000526266;ENST00000503506;ENST00000526691;ENST00000531691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000531689;ENST00000528079;ENST00000526580;ENST00000529784;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000527335;ENST00000397736;ENST00000427956;ENST00000526950	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78003	-0.27;-0.27;-1.14;-0.27;-0.27;-1.13;-0.27;-0.27;-0.27;-1.14;-1.13;-0.01;-0.27;-0.27;-0.27;-0.14;-0.27;-0.27;-0.27	5.75	-3.74	0.04385	.	0.723187	0.14378	N	0.323329	T	0.57315	0.2045	L	0.27053	0.805	0.31711	N	0.639458	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.001;0.001	B;B;B;B;B;B;B	0.06405	0.0;0.0;0.0;0.002;0.0;0.001;0.001	T	0.41034	-0.9531	10	0.52906	T	0.07	0.0046	4.3632	0.11211	0.211:0.0606:0.4358:0.2926	.	60;54;160;62;10;160;125	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	P	160;160;10;10;62;54;62;10;54;10;79;10;10;10;60;109;10;54;125;79	ENSP00000434516:S160P;ENSP00000412045:S160P;ENSP00000431294:S10P;ENSP00000421934:S10P;ENSP00000435929:S62P;ENSP00000431925:S54P;ENSP00000373506:S62P;ENSP00000347020:S10P;ENSP00000435123:S54P;ENSP00000433507:S10P;ENSP00000433887:S10P;ENSP00000436229:S10P;ENSP00000433425:S10P;ENSP00000440978:S60P;ENSP00000367310:S109P;ENSP00000433599:S10P;ENSP00000380844:S54P;ENSP00000393328:S125P;ENSP00000432812:S79P	ENSP00000347020:S10P	S	+	1	0	TXNRD1	103229261	0.050000	0.20438	0.109000	0.21407	0.394000	0.30568	0.473000	0.22132	-0.470000	0.06901	0.529000	0.55759	TCC		0.438	TXNRD1-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389960.1	NM_003330		8	24	0	0	0	1	0	8	24				
PRAMEF4	400735	broad.mit.edu	37	1	12939533	12939533	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:12939533A>G	ENST00000235349.5	-	4	1339	c.1269T>C	c.(1267-1269)ggT>ggC	p.G423G		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	423					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TACCATCAGCACCATAACTCT	0.512																																						ENST00000235349.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24						c.(1267-1269)ggT>ggC		PRAME family member 4							94.0	104.0	100.0					1																	12939533		1503	2686	4189	SO:0001819	synonymous_variant	400735							g.chr1:12939533A>G		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.1269T>C	1.37:g.12939533A>G							p.G423G	NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1339	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	423					Q5LJB5	Silent	SNP	ENST00000235349.5	37	c.1269T>C	CCDS30592.1																																																																																				0.512	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		20	871	0	0	0	1	0	20	871				
ZNF16	7564	broad.mit.edu	37	8	146157440	146157440	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:146157440T>C	ENST00000276816.4	-	4	919	c.733A>G	c.(733-735)Acc>Gcc	p.T245A	ZNF16_ENST00000394909.2_Missense_Mutation_p.T245A	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	245					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TGGCTGAAGGTTTTCCCACAA	0.463																																						ENST00000276816.4																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(733-735)Acc>Gcc		zinc finger protein 16							131.0	137.0	134.0					8																	146157440		2203	4300	6503	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146157440T>C	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.733A>G	8.37:g.146157440T>C	ENSP00000276816:p.Thr245Ala					ZNF16_ENST00000394909.2_Missense_Mutation_p.T245A	p.T245A	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	4	919	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	245					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.733A>G	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.151573	0.00029	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.14516	2.5;2.5	3.76	-7.52	0.01341	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04452	0.0122	N	0.20357	0.565	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42137	-0.9469	9	0.02654	T	1	.	0.9952	0.01465	0.1686:0.2912:0.2156:0.3246	.	245	P17020	ZNF16_HUMAN	A	245	ENSP00000276816:T245A;ENSP00000378369:T245A	ENSP00000276816:T245A	T	-	1	0	ZNF16	146128244	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	-3.650000	0.00403	-3.381000	0.00175	-0.624000	0.04008	ACC		0.463	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958		55	261	0	0	0	1	0	55	261				
RBAK	57786	broad.mit.edu	37	7	5104851	5104851	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:5104851A>G	ENST00000353796.3	+	6	2088	c.1764A>G	c.(1762-1764)gtA>gtG	p.V588V	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000396912.1_Silent_p.V588V	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	588	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ATCAAAGAGTACACACAGGCG	0.378																																						ENST00000396912.1																			0				NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1762-1764)gtA>gtG		RB-associated KRAB zinc finger							44.0	47.0	46.0					7																	5104851		2203	4299	6502	SO:0001819	synonymous_variant	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5104851A>G	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1764A>G	7.37:g.5104851A>G						RBAK_ENST00000353796.3_Silent_p.V588V|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron	p.V588V	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	5	2283	+		Ovarian(82;0.0175)	588			Interaction with AR.		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Silent	SNP	ENST00000353796.3	37	c.1764A>G	CCDS5337.1																																																																																				0.378	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		5	49	0	0	0	1	0	5	49				
ZNF354B	117608	broad.mit.edu	37	5	178310089	178310089	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:178310089A>G	ENST00000322434.3	+	5	862	c.636A>G	c.(634-636)aaA>aaG	p.K212K	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCAGAGAAACGCTATAAAT	0.299																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(634-636)aaA>aaG		zinc finger protein 354B							64.0	70.0	68.0					5																	178310089		2202	4297	6499	SO:0001819	synonymous_variant	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310089A>G	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.636A>G	5.37:g.178310089A>G							p.K212K	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	862	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	212					A8K0V2|Q5U5Z4	Silent	SNP	ENST00000322434.3	37	c.636A>G	CCDS4439.1																																																																																				0.299	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		29	102	0	0	0	1	0	29	102				
PRKDC	5591	broad.mit.edu	37	8	48842449	48842449	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:48842449A>G	ENST00000314191.2	-	18	2072	c.2016T>C	c.(2014-2016)atT>atC	p.I672I	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.I672I	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	672					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)	TTCTTACTGTAATAGAAAGCA	0.323								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.(2014-2016)atT>atC	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							55.0	54.0	54.0					8																	48842449		1814	4061	5875	SO:0001819	synonymous_variant	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.chr8:48842449A>G		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.2016T>C	8.37:g.48842449A>G						PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.I672I	p.I672I	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			18	2072	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	672					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.2016T>C																																																																																					0.323	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		3	68	0	0	0	1	0	3	68				
WDR4	10785	broad.mit.edu	37	21	44274700	44274700	+	Missense_Mutation	SNP	C	C	G	rs111539710		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:44274700C>G	ENST00000398208.2	-	8	822	c.763G>C	c.(763-765)Gag>Cag	p.E255Q	WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Missense_Mutation_p.E255Q	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		ACGCAGTTCTCCTGGCACCAG	0.622																																						ENST00000398208.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11						c.(763-765)Gag>Cag		WD repeat domain 4							36.0	36.0	36.0					21																	44274700		2203	4300	6503	SO:0001583	missense	10785				tRNA modification	cytoplasm|nucleoplasm	protein binding	g.chr21:44274700C>G	AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.763G>C	21.37:g.44274700C>G	ENSP00000381266:p.Glu255Gln					WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Missense_Mutation_p.E255Q	p.E255Q	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN		Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)	8	822	-			255						Missense_Mutation	SNP	ENST00000398208.2	37	c.763G>C	CCDS13691.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248395	0.22880	.	.	ENSG00000160193	ENST00000330317;ENST00000398208	T;T	0.29917	1.55;1.55	3.46	3.46	0.39613	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.459428	0.20507	N	0.090978	T	0.30823	0.0777	M	0.62723	1.935	0.25097	N	0.990815	P;P	0.46706	0.744;0.883	B;B	0.42319	0.277;0.383	T	0.15867	-1.0422	10	0.35671	T	0.21	-14.3943	10.61	0.45417	0.0:1.0:0.0:0.0	.	254;255	P57081-2;P57081	.;WDR4_HUMAN	Q	255	ENSP00000328671:E255Q;ENSP00000381266:E255Q	ENSP00000328671:E255Q	E	-	1	0	WDR4	43147769	0.130000	0.22417	0.513000	0.27749	0.370000	0.29829	2.030000	0.41108	1.927000	0.55829	0.591000	0.81541	GAG		0.622	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1			10	34	0	0	0	1	0	10	34				
ZCCHC3	85364	broad.mit.edu	37	20	279084	279084	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:279084A>G	ENST00000382352.3	+	1	1348	c.857A>G	c.(856-858)aAa>aGa	p.K286R		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	286							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			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)			GTGCCGGTGAAAGTGACCGAC	0.617																																						ENST00000382352.3																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(856-858)aAa>aGa		zinc finger, CCHC domain containing 3							66.0	72.0	70.0					20																	279084		2115	4235	6350	SO:0001583	missense	85364						nucleic acid binding|zinc ion binding	g.chr20:279084A>G	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.857A>G	20.37:g.279084A>G	ENSP00000371789:p.Lys286Arg						p.K286R	NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	1348	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	286					Q3B7J3|Q6NT79	Missense_Mutation	SNP	ENST00000382352.3	37	c.857A>G	CCDS42844.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.072656	0.55646	.	.	ENSG00000177764	ENST00000382352	.	.	.	5.2	4.09	0.47781	.	0.516687	0.18112	N	0.151330	T	0.18635	0.0447	N	0.04090	-0.28	0.31717	N	0.63884	B	0.28082	0.2	B	0.21917	0.037	T	0.10847	-1.0612	9	0.51188	T	0.08	-2.1072	5.26	0.15567	0.729:0.1818:0.0891:0.0	.	286	Q9NUD5	ZCHC3_HUMAN	R	286	.	ENSP00000371789:K286R	K	+	2	0	ZCCHC3	227084	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.756000	0.55205	0.972000	0.38314	0.454000	0.30748	AAA		0.617	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			9	152	0	0	0	1	0	9	152				
PARL	55486	broad.mit.edu	37	3	183584466	183584466	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:183584466C>T	ENST00000317096.4	-	3	469	c.409G>A	c.(409-411)Gct>Act	p.A137T	PARL_ENST00000311101.5_Missense_Mutation_p.A137T|PARL_ENST00000435888.1_Missense_Mutation_p.A137T	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	137			A -> G (in dbSNP:rs4912470).		membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AACCAATCAGCTTTTATACCA	0.353																																						ENST00000317096.4																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(409-411)Gct>Act		presenilin associated, rhomboid-like							117.0	111.0	113.0					3																	183584466		2203	4299	6502	SO:0001583	missense	55486				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	g.chr3:183584466C>T	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"""rhomboid 7 homolog 1 (Drosophila)"""	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.409G>A	3.37:g.183584466C>T	ENSP00000325421:p.Ala137Thr					PARL_ENST00000435888.1_Missense_Mutation_p.A137T|PARL_ENST00000311101.5_Missense_Mutation_p.A137T	p.A137T	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		3	469	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		137		A -> G (in dbSNP:rs4912470).			Q96CQ4|Q9BTJ6|Q9P1E3	Missense_Mutation	SNP	ENST00000317096.4	37	c.409G>A	CCDS3248.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207337	0.79240	.	.	ENSG00000175193	ENST00000317096;ENST00000311101;ENST00000435888	T;T;T	0.77489	-1.1;-1.1;-1.1	5.34	5.34	0.76211	.	0.053787	0.85682	D	0.000000	D	0.85652	0.5746	L	0.61218	1.895	0.58432	D	0.999998	D;P	0.76494	0.999;0.902	D;P	0.70016	0.967;0.644	T	0.82872	-0.0242	10	0.25751	T	0.34	-16.7474	17.8124	0.88620	0.0:1.0:0.0:0.0	.	137;137	Q9H300-2;Q9H300	.;PARL_HUMAN	T	137	ENSP00000325421:A137T;ENSP00000310676:A137T;ENSP00000402137:A137T	ENSP00000310676:A137T	A	-	1	0	PARL	185067160	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.348000	0.52209	2.475000	0.83589	0.563000	0.77884	GCT		0.353	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		17	75	0	0	0	1	0	17	75				
ERBB2	2064	broad.mit.edu	37	17	37866346	37866346	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:37866346C>T	ENST00000269571.5	+	6	810	c.651C>T	c.(649-651)cgC>cgT	p.R217R	ERBB2_ENST00000541774.1_Silent_p.R202R|ERBB2_ENST00000540147.1_Silent_p.R187R|ERBB2_ENST00000584601.1_Silent_p.R187R|ERBB2_ENST00000584450.1_Silent_p.R217R|ERBB2_ENST00000578199.1_Silent_p.R187R|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540042.1_Silent_p.R187R|ERBB2_ENST00000406381.2_Silent_p.R187R			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	217					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CAGTGACGCGCACTGTCTGTG	0.662		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(559-561)cgC>cgT		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						60.0	61.0	60.0					17																	37866346		2203	4299	6502	SO:0001819	synonymous_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37866346C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.651C>T	17.37:g.37866346C>T		TCGA GBM(5;<1E-08)				ERBB2_ENST00000540147.1_Silent_p.R187R|ERBB2_ENST00000541774.1_Silent_p.R202R|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584601.1_Silent_p.R187R|ERBB2_ENST00000584450.1_Silent_p.R217R|ERBB2_ENST00000540042.1_Silent_p.R187R|ERBB2_ENST00000269571.5_Silent_p.R217R|ERBB2_ENST00000578199.1_Silent_p.R187R	p.R187R	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	8	1071	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	217					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.561C>T	CCDS32642.1																																																																																				0.662	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			61	116	0	0	0	1	0	61	116				
OR13F1	138805	broad.mit.edu	37	9	107267222	107267222	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:107267222A>G	ENST00000334726.2	+	1	768	c.679A>G	c.(679-681)Aga>Gga	p.R227G		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTATCCTGAGAATCAGCTC	0.478																																						ENST00000334726.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(679-681)Aga>Gga		olfactory receptor, family 13, subfamily F, member 1							225.0	203.0	210.0					9																	107267222		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267222A>G		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.679A>G	9.37:g.107267222A>G	ENSP00000334452:p.Arg227Gly						p.R227G	NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN			1	768	+			227					Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.679A>G	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	A	13.10	2.135568	0.37728	.	.	ENSG00000186881	ENST00000334726	T	0.00253	8.43	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.107851	0.40908	D	0.000986	T	0.00412	0.0013	M	0.80422	2.495	0.21147	N	0.999778	P	0.45902	0.868	P	0.56216	0.794	T	0.29971	-0.9994	10	0.87932	D	0	.	8.1775	0.31292	0.7967:0.2033:0.0:0.0	.	227	Q8NGS4	O13F1_HUMAN	G	227	ENSP00000334452:R227G	ENSP00000334452:R227G	R	+	1	2	OR13F1	106307043	0.252000	0.23972	1.000000	0.80357	0.442000	0.32017	2.468000	0.45102	2.166000	0.68216	0.533000	0.62120	AGA		0.478	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			4	186	0	0	0	1	0	4	186				
TRHDE	29953	broad.mit.edu	37	12	72866908	72866908	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:72866908C>T	ENST00000261180.4	+	5	1493	c.1397C>T	c.(1396-1398)gCt>gTt	p.A466V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	466					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GAAGGGTTTGCTCACTACTTT	0.408																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(1396-1398)gCt>gTt		thyrotropin-releasing hormone degrading enzyme							347.0	311.0	323.0					12																	72866908		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72866908C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1397C>T	12.37:g.72866908C>T	ENSP00000261180:p.Ala466Val						p.A466V	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			5	1493	+			466					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1397C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	36	5.598545	0.96614	.	.	ENSG00000072657	ENST00000261180	T	0.12569	2.67	5.15	5.15	0.70609	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.52158	0.1717	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.68845	-0.5301	9	.	.	.	.	18.629	0.91352	0.0:1.0:0.0:0.0	.	466	Q9UKU6	TRHDE_HUMAN	V	466	ENSP00000261180:A466V	.	A	+	2	0	TRHDE	71153175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.765000	0.85310	2.400000	0.81607	0.650000	0.86243	GCT		0.408	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		6	227	0	0	0	1	0	6	227				
RIMS4	140730	broad.mit.edu	37	20	43438825	43438825	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:43438825C>T	ENST00000372851.3	-	1	154	c.88G>A	c.(88-90)Gag>Aag	p.E30K	RIMS4_ENST00000541604.2_Missense_Mutation_p.E30K	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	30					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CCTGCGTCCTCGTCGTCGAAG	0.731																																						ENST00000372851.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29						c.(88-90)Gag>Aag		regulating synaptic membrane exocytosis 4							11.0	11.0	11.0					20																	43438825		2190	4277	6467	SO:0001583	missense	140730				exocytosis|neurotransmitter transport	cell junction|synapse		g.chr20:43438825C>T		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.88G>A	20.37:g.43438825C>T	ENSP00000361942:p.Glu30Lys					RIMS4_ENST00000541604.2_Missense_Mutation_p.E30K	p.E30K	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN			1	154	-		Myeloproliferative disorder(115;0.0122)	30					A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.88G>A	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992893	0.35131	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.20881	2.04;2.07	3.27	2.19	0.27852	.	0.067200	0.56097	U	0.000025	T	0.13114	0.0318	L	0.34521	1.04	0.32969	D	0.52203	B;B	0.31290	0.009;0.318	B;B	0.20577	0.002;0.03	T	0.18493	-1.0335	10	0.33940	T	0.23	.	10.6189	0.45467	0.0:0.8026:0.1974:0.0	.	30;30	E1P613;Q9H426	.;RIMS4_HUMAN	K	30	ENSP00000361942:E30K;ENSP00000439287:E30K	ENSP00000361942:E30K	E	-	1	0	RIMS4	42872239	1.000000	0.71417	0.923000	0.36655	0.649000	0.38597	4.897000	0.63231	1.540000	0.49301	0.297000	0.19635	GAG		0.731	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		6	18	0	0	0	1	0	6	18				
PUM2	23369	broad.mit.edu	37	2	20497357	20497357	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:20497357A>G	ENST00000361078.2	-	7	988	c.966T>C	c.(964-966)gaT>gaC	p.D322D	PUM2_ENST00000319801.5_Silent_p.D322D|PUM2_ENST00000338086.5_Silent_p.D322D|PUM2_ENST00000536417.1_Silent_p.D266D|PUM2_ENST00000403432.1_Silent_p.D322D			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	322	Ala-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTATACGGATCGGTCCCTG	0.418																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(964-966)gaT>gaC		pumilio RNA-binding family member 2							46.0	44.0	44.0					2																	20497357		2203	4300	6503	SO:0001819	synonymous_variant	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20497357A>G	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.966T>C	2.37:g.20497357A>G						PUM2_ENST00000403432.1_Silent_p.D322D|PUM2_ENST00000319801.5_Silent_p.D322D|PUM2_ENST00000536417.1_Silent_p.D266D|PUM2_ENST00000338086.5_Silent_p.D322D	p.D322D			Q8TB72	PUM2_HUMAN			7	988	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		322			Ala-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Silent	SNP	ENST00000361078.2	37	c.966T>C																																																																																					0.418	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		9	27	0	0	0	1	0	9	27				
RIMBP3	85376	broad.mit.edu	37	22	20458649	20458649	+	Missense_Mutation	SNP	G	G	A	rs372255051		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:20458649G>A	ENST00000426804.1	-	1	3137	c.2653C>T	c.(2653-2655)Cgg>Tgg	p.R885W	RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	885	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AGCCCCCGCCGGCCATCCTCA	0.597																																						ENST00000426804.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(2653-2655)Cgg>Tgg		RIMS binding protein 3		G	TRP/ARG	1,3993		0,1,1996	66.0	77.0	73.0		2653	4.1	0.1	22		73	3,8319		0,3,4158	no	missense	RIMBP3	NM_015672.1	101	0,4,6154	AA,AG,GG		0.036,0.025,0.0325	probably-damaging	885/1640	20458649	4,12312	1997	4161	6158	SO:0001583	missense	85376							g.chr22:20458649G>A	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.2653C>T	22.37:g.20458649G>A	ENSP00000391564:p.Arg885Trp						p.R885W	NM_015672.1	NP_056487.1			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	3137	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.2653C>T	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689331	0.68271	2.5E-4	3.6E-4	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.54071	0.59	4.08	4.08	0.47627	Src homology-3 domain (3);Variant SH3 (1);	0.265246	0.30285	N	0.009968	T	0.76550	0.4003	H	0.94886	3.595	0.25697	N	0.985627	D	0.89917	1.0	D	0.70487	0.969	T	0.70605	-0.4826	10	0.87932	D	0	-7.7951	9.6297	0.39772	0.0:0.0:0.791:0.209	.	791	Q9UFD9	RIM3A_HUMAN	W	791;885	ENSP00000391564:R885W	ENSP00000347318:R791W	R	-	1	2	RIMBP3	18838649	0.993000	0.37304	0.071000	0.20095	0.830000	0.47004	2.669000	0.46825	1.999000	0.58509	0.398000	0.26397	CGG		0.597	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		9	45	0	0	0	1	0	9	45				
SDAD1	55153	broad.mit.edu	37	4	76891490	76891490	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:76891490T>C	ENST00000356260.5	-	10	973	c.855A>G	c.(853-855)tcA>tcG	p.S285S	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Silent_p.S248S	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	285					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGTGAATGGCTGAAAAGTTAA	0.388																																						ENST00000356260.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(853-855)tcA>tcG		SDA1 domain containing 1							134.0	122.0	126.0					4																	76891490		2203	4300	6503	SO:0001819	synonymous_variant	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76891490T>C	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.855A>G	4.37:g.76891490T>C						SDAD1_ENST00000395711.4_Silent_p.S248S|SDAD1_ENST00000513089.1_5'UTR	p.S285S	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		10	973	-			285					Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Silent	SNP	ENST00000356260.5	37	c.855A>G	CCDS3573.2																																																																																				0.388	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		14	57	0	0	0	1	0	14	57				
CAPN7	23473	broad.mit.edu	37	3	15274052	15274052	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:15274052T>C	ENST00000253693.2	+	10	1312	c.1059T>C	c.(1057-1059)gtT>gtC	p.V353V		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	353	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						AGTTACCTGTTGATCACAAGG	0.343																																						ENST00000253693.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						c.(1057-1059)gtT>gtC		calpain 7							108.0	108.0	108.0					3																	15274052		2203	4300	6503	SO:0001819	synonymous_variant	23473				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity	g.chr3:15274052T>C	AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"""calpain like protease"", ""homolog of Aspergillus Nidulans PALB"""	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.1059T>C	3.37:g.15274052T>C							p.V353V	NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN			10	1312	+			353			Calpain catalytic.			Silent	SNP	ENST00000253693.2	37	c.1059T>C	CCDS2624.1	.	.	.	.	.	.	.	.	.	.	T	10.15	1.271590	0.23221	.	.	ENSG00000131375	ENST00000415565	.	.	.	5.36	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.318	1.6256	0.02722	0.1273:0.1445:0.2637:0.4645	.	.	.	.	R	91	.	.	X	+	1	0	CAPN7	15249056	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.699000	0.25586	0.053000	0.16036	0.528000	0.53228	TGA		0.343	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296		16	54	0	0	0	1	0	16	54				
AHRR	57491	broad.mit.edu	37	5	427785	427785	+	Intron	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:427785T>C	ENST00000505113.1	+	8	764				AHRR_ENST00000512529.1_Intron|AHRR_ENST00000506456.1_Intron|AHRR_ENST00000316418.5_Missense_Mutation_p.C252R	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCTGCGGCTCTGCTGTCCCGA	0.607																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(754-756)Tgc>Cgc		aryl-hydrocarbon receptor repressor							32.0	42.0	39.0					5																	427785		2013	4180	6193	SO:0001627	intron_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:427785T>C	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.721-137T>C	5.37:g.427785T>C						AHRR_ENST00000505113.1_Intron|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000506456.1_Intron	p.C252R	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		8	798	+			240					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.754T>C	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	t	4.716	0.133072	0.09032	.	.	ENSG00000063438	ENST00000316418	T	0.17528	2.27	1.38	0.187	0.15109	.	2.079960	0.06443	N	0.726331	T	0.12860	0.0312	.	.	.	0.09310	N	1	P	0.51537	0.946	B	0.41619	0.361	T	0.21381	-1.0247	9	0.52906	T	0.07	.	3.167	0.06539	0.0:0.2537:0.0:0.7463	.	252	A9YTQ3-2	.	R	252	ENSP00000323816:C252R	ENSP00000323816:C252R	C	+	1	0	AHRR	480785	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.522000	0.06237	0.060000	0.16281	-0.340000	0.08031	TGC		0.607	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		33	97	0	0	0	1	0	33	97				
DNM2	1785	broad.mit.edu	37	19	10906067	10906067	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10906067A>G	ENST00000355667.6	+	9	1228	c.1148A>G	c.(1147-1149)gAc>gGc	p.D383G	DNM2_ENST00000314646.5_Missense_Mutation_p.D383G|DNM2_ENST00000359692.6_Missense_Mutation_p.D383G|DNM2_ENST00000389253.4_Missense_Mutation_p.D383G|DNM2_ENST00000585892.1_Missense_Mutation_p.D383G|DNM2_ENST00000408974.4_Missense_Mutation_p.D383G	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	383					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GACGAGAAGGACTTACGACGG	0.567			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1147-1149)gAc>gGc		dynamin 2							181.0	135.0	151.0					19																	10906067		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10906067A>G		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1148A>G	19.37:g.10906067A>G	ENSP00000347890:p.Asp383Gly					DNM2_ENST00000389253.4_Missense_Mutation_p.D383G|DNM2_ENST00000359692.6_Missense_Mutation_p.D383G|DNM2_ENST00000355667.6_Missense_Mutation_p.D383G|DNM2_ENST00000585892.1_Missense_Mutation_p.D383G|DNM2_ENST00000408974.4_Missense_Mutation_p.D383G	p.D383G			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		9	1312	+			383					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1148A>G	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029297	0.54790	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	5.29	5.29	0.74685	Dynamin central domain (1);	0.052069	0.85682	D	0.000000	T	0.62829	0.2460	N	0.12182	0.205	0.58432	D	0.999999	B;B;B;B;P	0.44521	0.012;0.001;0.109;0.001;0.837	B;B;B;B;P	0.48982	0.038;0.012;0.149;0.008;0.597	T	0.68522	-0.5386	10	0.54805	T	0.06	-0.8063	14.2462	0.65990	1.0:0.0:0.0:0.0	.	116;383;383;383;383	B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;DYN2_HUMAN;.	G	372;383;383;383;383;383	ENSP00000386192:D383G;ENSP00000347890:D383G;ENSP00000352721:D383G;ENSP00000373905:D383G;ENSP00000313164:D383G	ENSP00000313164:D383G	D	+	2	0	DNM2	10767067	1.000000	0.71417	0.701000	0.30321	0.935000	0.57460	9.307000	0.96226	2.016000	0.59253	0.533000	0.62120	GAC		0.567	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		33	96	0	0	0	1	0	33	96				
ZNF335	63925	broad.mit.edu	37	20	44589503	44589503	+	Splice_Site	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:44589503C>A	ENST00000322927.2	-	11	1765	c.1665G>T	c.(1663-1665)ccG>ccT	p.P555P	ZNF335_ENST00000426788.1_Splice_Site_p.P400P	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	555					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCAGACTCACCGGATCTGGCC	0.582																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.e11+1		zinc finger protein 335							36.0	37.0	37.0					20																	44589503		2203	4300	6503	SO:0001630	splice_region_variant	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44589503C>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1665+1G>T	20.37:g.44589503C>A						ZNF335_ENST00000426788.1_Splice_Site_p.P400_splice	p.P555_splice	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			11	1765	-		Myeloproliferative disorder(115;0.0122)	555					B4DLG7|Q548D0|Q9H684	Splice_Site	SNP	ENST00000322927.2	37	c.1665_splice	CCDS13389.1																																																																																				0.582	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095	Silent	9	12	1	0	3.09899e-07	1	3.1815e-07	9	12				
UBR5	51366	broad.mit.edu	37	8	103293654	103293654	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:103293654A>G	ENST00000520539.1	-	41	6396	c.5790T>C	c.(5788-5790)gaT>gaC	p.D1930D	UBR5_ENST00000521922.1_Silent_p.D1924D|UBR5_ENST00000220959.4_Silent_p.D1930D	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1930					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAGAATGCTCATCATTATGAG	0.423																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(5788-5790)gaT>gaC		ubiquitin protein ligase E3 component n-recognin 5							137.0	121.0	127.0					8																	103293654		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103293654A>G	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5790T>C	8.37:g.103293654A>G						UBR5_ENST00000521922.1_Silent_p.D1924D|UBR5_ENST00000220959.4_Silent_p.D1930D	p.D1930D	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		41	6396	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1930					B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.5790T>C	CCDS34933.1																																																																																				0.423	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		14	163	0	0	0	1	0	14	163				
ZNF217	7764	broad.mit.edu	37	20	52198633	52198633	+	Missense_Mutation	SNP	C	C	T	rs150961799		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:52198633C>T	ENST00000371471.2	-	2	1158	c.733G>A	c.(733-735)Ggt>Agt	p.G245S	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.G245S			O75362	ZN217_HUMAN	zinc finger protein 217	245					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CTGCTGGTACCGAAAGCAGTT	0.483													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21077	0.0		0.0	False		,,,				2504	0.0					ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(733-735)Ggt>Agt		zinc finger protein 217		C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	104.0	102.0	103.0		733	0.8	0.0	20	dbSNP_134	103	0,8600		0,0,4300	no	missense	ZNF217	NM_006526.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	245/1049	52198633	1,13005	2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198633C>T	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.733G>A	20.37:g.52198633C>T	ENSP00000360526:p.Gly245Ser					ZNF217_ENST00000302342.3_Missense_Mutation_p.G245S	p.G245S			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	1158	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		245					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.733G>A	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	2.717	-0.267361	0.05754	2.27E-4	0.0	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.08984	3.03;3.03	4.97	0.781	0.18561	.	0.509367	0.19014	N	0.124991	T	0.04272	0.0118	L	0.28192	0.835	0.09310	N	1	B	0.21452	0.056	B	0.12837	0.008	T	0.43653	-0.9378	10	0.12430	T	0.62	-10.9509	4.1258	0.10126	0.1611:0.4799:0.0:0.3589	.	245	O75362	ZN217_HUMAN	S	245	ENSP00000360526:G245S;ENSP00000304308:G245S	ENSP00000304308:G245S	G	-	1	0	ZNF217	51632040	0.001000	0.12720	0.001000	0.08648	0.120000	0.20174	0.668000	0.25127	0.315000	0.23110	0.591000	0.81541	GGT		0.483	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		46	124	0	0	0	1	0	46	124				
SIPA1L2	57568	broad.mit.edu	37	1	232601047	232601047	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:232601047C>T	ENST00000366630.1	-	8	2717	c.2359G>A	c.(2359-2361)Gca>Aca	p.A787T	SIPA1L2_ENST00000308942.4_5'Flank|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A787T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	787	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCATTTTCTGCATTGATTACT	0.468																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(2359-2361)Gca>Aca		signal-induced proliferation-associated 1 like 2							93.0	94.0	93.0					1																	232601047		1957	4192	6149	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232601047C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2359G>A	1.37:g.232601047C>T	ENSP00000355589:p.Ala787Thr					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A787T	p.A787T			Q9P2F8	SI1L2_HUMAN			8	2717	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	787			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2359G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	35	5.467234	0.96257	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.96554	-4.05;-4.05	5.8	5.8	0.92144	Rap/ran-GAP (2);	0.057692	0.64402	D	0.000001	D	0.98732	0.9574	M	0.93939	3.475	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.99267	1.0892	10	0.87932	D	0	-18.9796	20.053	0.97634	0.0:1.0:0.0:0.0	.	787	Q9P2F8	SI1L2_HUMAN	T	787	ENSP00000355589:A787T;ENSP00000262861:A787T	ENSP00000262861:A787T	A	-	1	0	SIPA1L2	230667670	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	7.818000	0.86416	2.733000	0.93635	0.650000	0.86243	GCA		0.468	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		43	122	0	0	0	1	0	43	122				
CHRNA3	1136	broad.mit.edu	37	15	78893979	78893979	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:78893979T>C	ENST00000326828.5	-	5	1389	c.1005A>G	c.(1003-1005)acA>acG	p.T335T	CHRNA3_ENST00000348639.3_Silent_p.T335T	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	335					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	GCATTGTGTGTGTCGTCGGGG	0.522																																						ENST00000326828.5																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1003-1005)acA>acG		cholinergic receptor, nicotinic, alpha 3 (neuronal)							164.0	148.0	154.0					15																	78893979		2196	4293	6489	SO:0001819	synonymous_variant	1136				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78893979T>C		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.1005A>G	15.37:g.78893979T>C						CHRNA3_ENST00000348639.3_Silent_p.T335T	p.T335T	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN			5	1389	-			335					Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Silent	SNP	ENST00000326828.5	37	c.1005A>G	CCDS10305.1																																																																																				0.522	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			43	112	0	0	0	1	0	43	112				
APC	324	broad.mit.edu	37	5	112174922	112174922	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:112174922A>G	ENST00000457016.1	+	16	4011	c.3631A>G	c.(3631-3633)Atg>Gtg	p.M1211V	APC_ENST00000508376.2_Missense_Mutation_p.M1211V|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.M1211V			P25054	APC_HUMAN	adenomatous polyposis coli	1211	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.M1211fs*6(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AACCGAACATATGTCTTCAAG	0.403		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		3	Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.M1211fs*6(1)|p.K1192fs*3(1)|p.?(1)	large_intestine(1)|soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261	GRCh37	CD994307|CI077707	APC	D|I		c.(3631-3633)Atg>Gtg		adenomatous polyposis coli							82.0	82.0	82.0					5																	112174922		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112174922A>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3631A>G	5.37:g.112174922A>G	ENSP00000413133:p.Met1211Val	TSP Lung(16;0.13)				APC_ENST00000508376.2_Missense_Mutation_p.M1211V|APC_ENST00000257430.4_Missense_Mutation_p.M1211V|CTC-554D6.1_ENST00000520401.1_Intron	p.M1211V			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4011	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1211			Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.3631A>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.064313	0.00386	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.89123	-2.31;-2.31;-2.31;-2.47	5.91	-0.855	0.10700	.	0.649336	0.17118	N	0.186368	T	0.68787	0.3039	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.56805	-0.7918	9	.	.	.	0.0996	6.3082	0.21151	0.4617:0.2268:0.3115:0.0	.	1213;1211	Q4LE70;P25054	.;APC_HUMAN	V	1211	ENSP00000413133:M1211V;ENSP00000257430:M1211V;ENSP00000427089:M1211V;ENSP00000423828:M1211V	.	M	+	1	0	APC	112202821	0.798000	0.28890	0.918000	0.36340	0.082000	0.17680	0.605000	0.24179	-0.355000	0.08199	0.533000	0.62120	ATG		0.403	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		17	87	0	0	0	1	0	17	87				
LAMA1	284217	broad.mit.edu	37	18	7032981	7032981	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:7032981A>G	ENST00000389658.3	-	15	2257		c.e15+1			NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1						axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GAGAAGCGTCACCTCACAGGA	0.502																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.e15+1		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						99.0	76.0	83.0					18																	7032981		2203	4300	6503	SO:0001630	splice_region_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7032981A>G	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2163+1T>C	18.37:g.7032981A>G								NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			15	2257	-		Colorectal(10;0.172)							Splice_Site	SNP	ENST00000389658.3	37		CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321052	0.81580	.	.	ENSG00000101680	ENST00000389658	.	.	.	6.17	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7445	0.62868	0.8716:0.1283:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMA1	7022981	1.000000	0.71417	0.938000	0.37757	0.884000	0.51177	8.933000	0.92911	1.137000	0.42214	0.533000	0.62120	.		0.502	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	Intron	7	14	0	0	0	1	0	7	14				
SAFB2	9667	broad.mit.edu	37	19	5593976	5593976	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:5593976C>T	ENST00000252542.4	-	15	2397	c.2133G>A	c.(2131-2133)gaG>gaA	p.E711E		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	711	Arg-rich.|Glu-rich.|Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GGCGCCGCAGCTCCTCGCGCT	0.741																																					Ovarian(127;888 1728 23957 44128 52668)	ENST00000252542.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2131-2133)gaG>gaA		scaffold attachment factor B2							6.0	6.0	6.0					19																	5593976		2061	4051	6112	SO:0001819	synonymous_variant	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5593976C>T	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2133G>A	19.37:g.5593976C>T							p.E711E	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	15	2397	-			711			Arg-rich.|Glu-rich.|Interacts with SAFB1.		B4DKG3|Q8TB13	Silent	SNP	ENST00000252542.4	37	c.2133G>A	CCDS32879.1																																																																																				0.741	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		4	9	0	0	0	1	0	4	9				
MDN1	23195	broad.mit.edu	37	6	90432762	90432762	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:90432762A>G	ENST00000369393.3	-	40	5994	c.5879T>C	c.(5878-5880)gTt>gCt	p.V1960A	MDN1_ENST00000428876.1_Missense_Mutation_p.V1960A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1960					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGACTGGTCAACCAGCATCAA	0.473																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(5878-5880)gTt>gCt		MDN1, midasin homolog (yeast)							150.0	164.0	159.0					6																	90432762		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90432762A>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5879T>C	6.37:g.90432762A>G	ENSP00000358400:p.Val1960Ala					MDN1_ENST00000428876.1_Missense_Mutation_p.V1960A	p.V1960A			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	40	5994	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1960					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.5879T>C	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.093106	0.36952	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.37915	1.17;1.17	6.16	6.16	0.99307	.	0.324897	0.33419	N	0.004933	T	0.07548	0.0190	N	0.12569	0.235	0.34824	D	0.738965	B	0.09022	0.002	B	0.15870	0.014	T	0.10245	-1.0638	10	0.06236	T	0.91	.	11.8297	0.52288	0.8694:0.0:0.0:0.1306	.	1960	Q9NU22	MDN1_HUMAN	A	1960	ENSP00000358400:V1960A;ENSP00000413970:V1960A	ENSP00000358400:V1960A	V	-	2	0	MDN1	90489483	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.936000	0.63506	2.367000	0.80283	0.528000	0.53228	GTT		0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			6	276	0	0	0	1	0	6	276				
EXOC4	60412	broad.mit.edu	37	7	132973733	132973733	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:132973733C>T	ENST00000253861.4	+	3	363	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	EXOC4_ENST00000393161.2_Missense_Mutation_p.R112W|EXOC4_ENST00000539845.1_Missense_Mutation_p.R11W	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	112					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GGATGAGCTTCGGAAACTGTG	0.433																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(334-336)Cgg>Tgg		exocyst complex component 4							109.0	93.0	98.0					7																	132973733		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:132973733C>T	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.334C>T	7.37:g.132973733C>T	ENSP00000253861:p.Arg112Trp					EXOC4_ENST00000393161.2_Missense_Mutation_p.R112W|EXOC4_ENST00000539845.1_Missense_Mutation_p.R11W	p.R112W	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			3	363	+		Esophageal squamous(399;0.129)	112					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.334C>T	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452638	0.84209	.	.	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000539845	.	.	.	5.88	5.88	0.94601	Sec8 exocyst complex component specific domain (1);	0.000000	0.85682	D	0.000000	T	0.75796	0.3898	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	T	0.75425	-0.3322	9	0.52906	T	0.07	.	15.0142	0.71570	0.1423:0.8577:0.0:0.0	.	112;112	Q96A65;Q8TAR2	EXOC4_HUMAN;.	W	112;112;11	.	ENSP00000253861:R112W	R	+	1	2	EXOC4	132624273	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.861000	0.48380	2.774000	0.95407	0.655000	0.94253	CGG		0.433	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		24	77	0	0	0	1	0	24	77				
ZNF788	388507	broad.mit.edu	37	19	12223763	12223763	+	Silent	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:12223763T>G	ENST00000339302.4	+	3	2038	c.1401T>G	c.(1399-1401)acT>acG	p.T467T	ZNF788_ENST00000397759.3_Silent_p.T86T|ZNF788_ENST00000430298.2_3'UTR|ZNF20_ENST00000600335.1_Intron			Q6ZQV5	ZN788_HUMAN	zinc finger family member 788	467					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(1)|haematopoietic_and_lymphoid_tissue(1)	2						ATGAAATGACTCACACTGGAG	0.448																																					Melanoma(116;440 1644 18510 25456 49479)	ENST00000339302.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(1399-1401)acT>acG		zinc finger family member 788																																				SO:0001819	synonymous_variant	388507							g.chr19:12223763T>G	AI566055		19p13.2	2013-01-08	2006-08-16		ENSG00000214189	ENSG00000214189		"""Zinc fingers, C2H2-type"""	33112	protein-coding gene	gene with protein product							Standard	NR_027049		Approved	FLJ46419	uc002mtd.3	Q6ZQV5	OTTHUMG00000156416	ENST00000339302.4:c.1401T>G	19.37:g.12223763T>G						ZNF788_ENST00000430298.2_3'UTR|ZNF788_ENST00000397759.3_Silent_p.T86T|ZNF20_ENST00000600335.1_Intron	p.T467T							3	2038	+								Q6ZRE4	Silent	SNP	ENST00000339302.4	37	c.1401T>G																																																																																					0.448	ZNF788-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_930581		4	33	0	0	0	1	0	4	33				
SEPT7	989	broad.mit.edu	37	7	35913282	35913282	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:35913282A>G	ENST00000435235.1	+	5	682	c.250A>G	c.(250-252)Aaa>Gaa	p.K84E	SEPT7_ENST00000350320.6_Missense_Mutation_p.K136E|SEPT7_ENST00000399035.3_Missense_Mutation_p.K136E|SEPT7_ENST00000399034.2_Missense_Mutation_p.K138E|SEPT7_ENST00000469679.2_Missense_Mutation_p.K136E|SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000494488.2_Missense_Mutation_p.K123E			Q16181	SEPT7_HUMAN	septin 7	137	Septin-type G.				cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CATTGATAGTAAATTTGAGGA	0.393																																						ENST00000494488.2																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						c.(367-369)Aaa>Gaa		septin 7							97.0	83.0	88.0					7																	35913282		1876	4101	5977	SO:0001583	missense	989				cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	g.chr7:35913282A>G	S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"""Septins"""	1717	protein-coding gene	gene with protein product		603151	"""CDC10 cell division cycle 10 homolog (S. cerevisiae)"""	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000435235.1:c.250A>G	7.37:g.35913282A>G	ENSP00000413507:p.Lys84Glu					SEPT7_ENST00000399034.2_Missense_Mutation_p.K138E|SEPT7_ENST00000435235.1_Missense_Mutation_p.K84E|SEPT7_ENST00000399035.3_Missense_Mutation_p.K136E|SEPT7_ENST00000469679.2_Missense_Mutation_p.K136E|SEPT7_ENST00000350320.6_Missense_Mutation_p.K136E|SEPT7_ENST00000475109.1_3'UTR	p.K123E			Q16181	SEPT7_HUMAN			5	367	+			137					Q52M76|Q6NX50	Missense_Mutation	SNP	ENST00000435235.1	37	c.367A>G		.	.	.	.	.	.	.	.	.	.	A	26.8	4.773994	0.90108	.	.	ENSG00000122545	ENST00000435235;ENST00000399034;ENST00000350320;ENST00000469679;ENST00000399035;ENST00000537785;ENST00000493670;ENST00000494488	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.09	5.09	0.68999	.	0.000000	0.85682	U	0.000000	T	0.60353	0.2262	M	0.62016	1.91	0.80722	D	1	P;P;P	0.49358	0.923;0.923;0.923	P;P;P	0.54544	0.755;0.755;0.755	T	0.65100	-0.6250	10	0.87932	D	0	.	15.2116	0.73227	1.0:0.0:0.0:0.0	.	82;136;137	B4DNE4;E7EPK1;Q16181	.;.;SEPT7_HUMAN	E	84;138;136;136;136;82;84;123	ENSP00000413507:K84E;ENSP00000381992:K138E;ENSP00000344868:K136E;ENSP00000444501:K136E;ENSP00000381993:K136E;ENSP00000438395:K123E	ENSP00000344868:K136E	K	+	1	0	SEPT7	35879807	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.205000	0.77881	2.067000	0.61834	0.524000	0.50904	AAA		0.393	SEPT7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000338285.1	NM_001788		5	24	0	0	0	1	0	5	24				
DGKD	8527	broad.mit.edu	37	2	234378054	234378054	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:234378054T>C	ENST00000264057.2	+	30	3605	c.3593T>C	c.(3592-3594)aTc>aCc	p.I1198T	DGKD_ENST00000409813.3_Missense_Mutation_p.I1154T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	1198	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ATGAAGAGGATCCTGTGTGGC	0.662																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(3592-3594)aTc>aCc		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						43.0	40.0	41.0					2																	234378054		2203	4299	6502	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234378054T>C	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.3593T>C	2.37:g.234378054T>C	ENSP00000264057:p.Ile1198Thr					DGKD_ENST00000409813.3_Missense_Mutation_p.I1154T	p.I1198T	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	30	3605	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	1198			SAM.		Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.3593T>C	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.498305	0.85069	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	D;D	0.89617	-2.54;-2.54	4.55	4.55	0.56014	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.96658	0.8909	H	0.98612	4.28	0.54753	D	0.999984	D;D	0.89917	0.999;1.0	D;D	0.91635	0.962;0.999	D	0.98091	1.0409	10	0.87932	D	0	.	14.3623	0.66782	0.0:0.0:0.0:1.0	.	1154;1198	Q16760-2;Q16760	.;DGKD_HUMAN	T	1198;1154	ENSP00000264057:I1198T;ENSP00000386455:I1154T	ENSP00000264057:I1198T	I	+	2	0	DGKD	234042793	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.629000	0.83207	2.022000	0.59522	0.533000	0.62120	ATC		0.662	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		3	16	0	0	0	1	0	3	16				
C9orf9	11092	broad.mit.edu	37	9	135759426	135759426	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:135759426A>G	ENST00000372136.3	+	2	539	c.92A>G	c.(91-93)cAc>cGc	p.H31R	C9orf9_ENST00000356311.5_Missense_Mutation_p.H31R|C9orf9_ENST00000350499.6_Missense_Mutation_p.H31R			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	31						cytoplasmic microtubule (GO:0005881)		p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		GCTCTGGAGCACTGCAGGGAG	0.612																																						ENST00000372136.3																			1	Unknown(1)	p.?(1)	bone(1)	cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(91-93)cAc>cGc		chromosome 9 open reading frame 9							80.0	76.0	77.0					9																	135759426		2203	4300	6503	SO:0001583	missense	11092							g.chr9:135759426A>G		CCDS6955.1	9q34.13	2012-03-06			ENSG00000165698	ENSG00000165698			1367	protein-coding gene	gene with protein product							Standard	NM_018956		Approved		uc004cby.1	Q96E40	OTTHUMG00000020847	ENST00000372136.3:c.92A>G	9.37:g.135759426A>G	ENSP00000361209:p.His31Arg					C9orf9_ENST00000356311.5_Missense_Mutation_p.H31R|C9orf9_ENST00000350499.6_Missense_Mutation_p.H31R	p.H31R			Q96E40	CI009_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)	2	539	+			31					Q9UGQ0	Missense_Mutation	SNP	ENST00000372136.3	37	c.92A>G		.	.	.	.	.	.	.	.	.	.	A	2.788	-0.251906	0.05829	.	.	ENSG00000165698	ENST00000372136;ENST00000356311;ENST00000350499	T;T;T	0.35605	1.3;1.3;1.3	5.46	4.32	0.51571	.	0.135784	0.53938	N	0.000053	T	0.20414	0.0491	L	0.29908	0.895	0.36641	D	0.876866	B;B	0.11235	0.001;0.004	B;B	0.12156	0.005;0.007	T	0.15925	-1.0420	10	0.02654	T	1	-32.2263	7.3543	0.26711	0.737:0.0:0.263:0.0	.	31;31	Q96E40-2;Q96E40	.;CI009_HUMAN	R	31	ENSP00000361209:H31R;ENSP00000348659:H31R;ENSP00000298546:H31R	ENSP00000298546:H31R	H	+	2	0	C9orf9	134749247	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	0.855000	0.27805	0.905000	0.36596	0.533000	0.62120	CAC		0.612	C9orf9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000054806.1	NM_018956		19	69	0	0	0	1	0	19	69				
GYS2	2998	broad.mit.edu	37	12	21721940	21721940	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:21721940T>C	ENST00000261195.2	-	5	936	c.682A>G	c.(682-684)Aac>Gac	p.N228D		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	228					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGTCAATGTTAAACTGTTAG	0.433																																					Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(682-684)Aac>Gac		glycogen synthase 2 (liver)							89.0	90.0	90.0					12																	21721940		2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21721940T>C		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.682A>G	12.37:g.21721940T>C	ENSP00000261195:p.Asn228Asp						p.N228D	NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN			5	936	-			228					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.682A>G	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	T	4.512	0.094995	0.08681	.	.	ENSG00000111713	ENST00000261195	T	0.60548	0.18	5.16	-1.37	0.09056	.	0.329396	0.34580	N	0.003851	T	0.27697	0.0681	N	0.10733	0.035	0.27312	N	0.957282	B	0.06786	0.001	B	0.17722	0.019	T	0.33240	-0.9876	10	0.02654	T	1	-10.2685	10.8086	0.46533	0.0:0.5822:0.0:0.4178	.	228	P54840	GYS2_HUMAN	D	228	ENSP00000261195:N228D	ENSP00000261195:N228D	N	-	1	0	GYS2	21613207	0.907000	0.30839	0.989000	0.46669	0.995000	0.86356	-0.062000	0.11674	-0.150000	0.11195	0.533000	0.62120	AAC		0.433	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		31	81	0	0	0	1	0	31	81				
CNDP1	84735	broad.mit.edu	37	18	72238438	72238438	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:72238438G>T	ENST00000358821.3	+	7	1002	c.774G>T	c.(772-774)caG>caT	p.Q258H	CNDP1_ENST00000582365.1_Missense_Mutation_p.Q215H	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	258						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GCAGAGACCAGGATTTTCACT	0.403																																					Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(643-645)caG>caT		carnosine dipeptidase 1 (metallopeptidase M20 family)							198.0	174.0	182.0					18																	72238438		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72238438G>T		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.774G>T	18.37:g.72238438G>T	ENSP00000351682:p.Gln258His					CNDP1_ENST00000358821.3_Missense_Mutation_p.Q258H	p.Q215H			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	6	711	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	258					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.645G>T	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140285	0.56936	.	.	ENSG00000150656	ENST00000358821	T	0.56611	0.45	5.82	-3.4	0.04853	Peptidase M20, dimerisation (1);	0.177016	0.49916	D	0.000127	T	0.59032	0.2164	L	0.41492	1.28	0.45580	D	0.998522	D	0.89917	1.0	D	0.76071	0.987	T	0.58775	-0.7577	10	0.62326	D	0.03	-22.3205	14.8469	0.70267	0.3939:0.0:0.6061:0.0	.	258	Q96KN2	CNDP1_HUMAN	H	258	ENSP00000351682:Q258H	ENSP00000351682:Q258H	Q	+	3	2	CNDP1	70389418	0.999000	0.42202	0.932000	0.37286	0.786000	0.44442	0.674000	0.25218	-0.808000	0.04387	-0.469000	0.05056	CAG		0.403	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		22	84	1	0	2.41591e-17	1	2.54096e-17	22	84				
MRE11A	4361	broad.mit.edu	37	11	94224061	94224061	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:94224061C>T	ENST00000323929.3	-	3	313	c.91G>A	c.(91-93)Gtc>Atc	p.V31I	MRE11A_ENST00000540013.1_Missense_Mutation_p.V31I|MRE11A_ENST00000323977.3_Missense_Mutation_p.V31I|MRE11A_ENST00000407439.3_Missense_Mutation_p.V34I|MRE11A_ENST00000536144.1_5'UTR|MRE11A_ENST00000393241.4_Missense_Mutation_p.V31I|ANKRD49_ENST00000544612.1_5'Flank	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	31				V -> A (in Ref. 1; AAC78721). {ECO:0000305}.	base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TTTCCTCTGACTGCATCTTTC	0.313								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													ENST00000323929.3																			0				breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29						c.(91-93)Gtc>Atc	Homologous recombination	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)							125.0	120.0	121.0					11																	94224061		2201	4298	6499	SO:0001583	missense	4361	Ataxia-Telangiectasia-Like Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94224061C>T	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.91G>A	11.37:g.94224061C>T	ENSP00000325863:p.Val31Ile					MRE11A_ENST00000536144.1_5'UTR|MRE11A_ENST00000407439.3_Missense_Mutation_p.V34I|MRE11A_ENST00000540013.1_Missense_Mutation_p.V31I|MRE11A_ENST00000323977.3_Missense_Mutation_p.V31I|MRE11A_ENST00000393241.4_Missense_Mutation_p.V31I	p.V31I	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN			3	313	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	31	V -> A (in Ref. 1; AAC78721).				O43475	Missense_Mutation	SNP	ENST00000323929.3	37	c.91G>A	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	8.056	0.767043	0.15983	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241;ENST00000540013;ENST00000536754;ENST00000538923	D;D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	4.46	4.46	0.54185	Metallophosphoesterase domain (1);	0.058882	0.64402	D	0.000002	T	0.62841	0.2461	N	0.03917	-0.325	0.54753	D	0.999982	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.62277	-0.6888	10	0.05525	T	0.97	-7.5452	17.1299	0.86724	0.0:1.0:0.0:0.0	.	34;31;31	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	I	31;34;31;31;31;31;31	ENSP00000325863:V31I;ENSP00000385614:V34I;ENSP00000326094:V31I;ENSP00000376933:V31I;ENSP00000440986:V31I;ENSP00000439511:V31I;ENSP00000442809:V31I	ENSP00000325863:V31I	V	-	1	0	MRE11A	93863709	1.000000	0.71417	0.976000	0.42696	0.882000	0.50991	1.933000	0.40153	2.029000	0.59856	0.462000	0.41574	GTC		0.313	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		19	54	0	0	0	1	0	19	54				
DCHS2	54798	broad.mit.edu	37	4	155219642	155219642	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:155219642C>T	ENST00000357232.4	-	18	4458	c.4459G>A	c.(4459-4461)Gtg>Atg	p.V1487M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1487	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCTTCTCTCACAGAGGACTGG	0.463																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(4459-4461)Gtg>Atg		dachsous cadherin-related 2							143.0	146.0	145.0					4																	155219642		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219642C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4459G>A	4.37:g.155219642C>T	ENSP00000349768:p.Val1487Met						p.V1487M	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	4458	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1487			Cadherin 13.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.4459G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227701	0.58668	.	.	ENSG00000197410	ENST00000357232	T	0.58358	0.34	5.76	3.05	0.35203	Cadherin (3);Cadherin-like (1);	0.087042	0.47455	D	0.000221	T	0.59810	0.2221	M	0.92784	3.345	0.80722	D	1	P	0.52692	0.955	B	0.41440	0.357	T	0.66244	-0.5972	10	0.62326	D	0.03	.	9.7157	0.40274	0.0:0.7544:0.1168:0.1288	.	1487	Q6V1P9	PCD23_HUMAN	M	1487	ENSP00000349768:V1487M	ENSP00000349768:V1487M	V	-	1	0	DCHS2	155439092	0.618000	0.27051	0.374000	0.26016	0.975000	0.68041	1.268000	0.33062	0.417000	0.25871	0.650000	0.86243	GTG		0.463	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		50	145	0	0	0	1	0	50	145				
TEKT1	83659	broad.mit.edu	37	17	6704170	6704170	+	Silent	SNP	C	C	T	rs536852793	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:6704170C>T	ENST00000338694.2	-	7	1074	c.945G>A	c.(943-945)acG>acA	p.T315T	TEKT1_ENST00000535086.1_Silent_p.T169T	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	315						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCTCCAAGCGCGTATGAGCCA	0.502											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338694.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(943-945)acG>acA		tektin 1							205.0	194.0	197.0					17																	6704170		2203	4300	6503	SO:0001819	synonymous_variant	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6704170C>T		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.945G>A	17.37:g.6704170C>T			OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	636	TEKT1_ENST00000535086.1_Silent_p.T169T	p.T315T	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN			7	1074	-		Myeloproliferative disorder(207;0.0255)	315					D3DTM7	Silent	SNP	ENST00000338694.2	37	c.945G>A	CCDS11083.1																																																																																				0.502	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		57	179	0	0	0	1	0	57	179				
FBXO38	81545	broad.mit.edu	37	5	147781675	147781675	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:147781675C>T	ENST00000340253.5	+	4	561	c.393C>T	c.(391-393)gtC>gtT	p.V131V	FBXO38_ENST00000296701.6_Silent_p.V131V|FBXO38_ENST00000394370.3_Silent_p.V131V|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000513826.1_Silent_p.V131V			Q6PIJ6	FBX38_HUMAN	F-box protein 38	131					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCAGGAGTCCTAGAAGCTT	0.443																																						ENST00000340253.5																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(391-393)gtC>gtT		F-box protein 38							141.0	133.0	135.0					5																	147781675		2203	4299	6502	SO:0001819	synonymous_variant	81545					cytoplasm|nucleus		g.chr5:147781675C>T	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.393C>T	5.37:g.147781675C>T						FBXO38_ENST00000394370.3_Silent_p.V131V|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000513826.1_Silent_p.V131V|FBXO38_ENST00000296701.6_Silent_p.V131V	p.V131V			Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	561	+			131					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37	c.393C>T																																																																																					0.443	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		13	168	0	0	0	1	0	13	168				
DGKG	1608	broad.mit.edu	37	3	185986616	185986616	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:185986616G>A	ENST00000265022.3	-	12	1629	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	DGKG_ENST00000382164.4_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.R364W|DGKG_ENST00000544847.1_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	364					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACGCAGTGCCGCGCGGTGACA	0.607																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(1090-1092)Cgg>Tgg		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						75.0	57.0	63.0					3																	185986616		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185986616G>A	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1090C>T	3.37:g.185986616G>A	ENSP00000265022:p.Arg364Trp					DGKG_ENST00000544847.1_Intron|DGKG_ENST00000382164.4_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.R364W	p.R364W	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	12	1629	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		364					B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.1090C>T	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358790	0.41801	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000437018	D;D;D	0.84223	-1.82;-1.82;-1.82	5.16	3.27	0.37495	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.264350	0.30989	N	0.008464	T	0.67664	0.2917	N	0.03903	-0.33	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.003;0.001	T	0.65928	-0.6049	10	0.87932	D	0	.	10.49	0.44746	0.0782:0.134:0.7878:0.0	.	364;364	P49619-2;P49619	.;DGKG_HUMAN	W	364;364;115	ENSP00000265022:R364W;ENSP00000339777:R364W;ENSP00000395526:R115W	ENSP00000265022:R364W	R	-	1	2	DGKG	187469310	0.996000	0.38824	1.000000	0.80357	0.968000	0.65278	2.514000	0.45503	1.328000	0.45358	0.563000	0.77884	CGG		0.607	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			6	33	0	0	0	1	0	6	33				
SH3BP5L	80851	broad.mit.edu	37	1	249106318	249106318	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:249106318G>A	ENST00000366472.5	-	7	2192	c.963C>T	c.(961-963)agC>agT	p.S321S	SH3BP5L_ENST00000411742.2_Silent_p.S289S|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	321										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGGGCCCCAGGCTGCTGCCCT	0.716																																						ENST00000366472.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(961-963)agC>agT		SH3-binding domain protein 5-like							15.0	21.0	19.0					1																	249106318		2193	4284	6477	SO:0001819	synonymous_variant	80851							g.chr1:249106318G>A	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.963C>T	1.37:g.249106318G>A						SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Silent_p.S289S	p.S321S	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		7	2192	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	321					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Silent	SNP	ENST00000366472.5	37	c.963C>T	CCDS31126.1																																																																																				0.716	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		4	52	0	0	0	1	0	4	52				
KIF18A	81930	broad.mit.edu	37	11	28104410	28104410	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:28104410T>C	ENST00000263181.6	-	9	1545	c.1255A>G	c.(1255-1257)Atc>Gtc	p.I419V		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	419					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TACCTTTCGATTTCTTTTTCC	0.249																																						ENST00000263181.6																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						c.(1255-1257)Atc>Gtc		kinesin family member 18A							78.0	79.0	79.0					11																	28104410		2197	4293	6490	SO:0001583	missense	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28104410T>C	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1255A>G	11.37:g.28104410T>C	ENSP00000263181:p.Ile419Val						p.I419V	NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN			9	1545	-			419					Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	c.1255A>G	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	T	8.452	0.853261	0.17106	.	.	ENSG00000121621	ENST00000263181	T	0.73363	-0.74	5.43	-0.163	0.13363	.	0.399851	0.28470	N	0.015231	T	0.53626	0.1808	L	0.38838	1.175	0.21740	N	0.99956	B	0.18310	0.027	B	0.13407	0.009	T	0.21042	-1.0257	10	0.16420	T	0.52	.	3.1396	0.06451	0.1357:0.0716:0.2485:0.5442	.	419	Q8NI77	KI18A_HUMAN	V	419	ENSP00000263181:I419V	ENSP00000263181:I419V	I	-	1	0	KIF18A	28060986	0.999000	0.42202	0.890000	0.34922	0.478000	0.33099	1.237000	0.32695	0.077000	0.16863	-0.321000	0.08615	ATC		0.249	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		11	29	0	0	0	1	0	11	29				
IGFBPL1	347252	broad.mit.edu	37	9	38411462	38411462	+	Missense_Mutation	SNP	C	C	T	rs559553447	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:38411462C>T	ENST00000377694.1	-	4	794	c.772G>A	c.(772-774)Gtg>Atg	p.V258M		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	258	Ig-like C2-type.				regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		AGAACCGTCACTGTGCTGTGG	0.498																																						ENST00000377694.1																			0				endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(772-774)Gtg>Atg		insulin-like growth factor binding protein-like 1							122.0	106.0	112.0					9																	38411462		2203	4300	6503	SO:0001583	missense	347252				regulation of cell growth	extracellular region	insulin-like growth factor binding	g.chr9:38411462C>T		CCDS35017.1	9p12	2013-01-11			ENSG00000137142	ENSG00000137142		"""Immunoglobulin superfamily / I-set domain containing"""	20081	protein-coding gene	gene with protein product		610413					Standard	NM_001007563		Approved	bA113O24.1	uc004aaz.3	Q8WX77	OTTHUMG00000019937	ENST00000377694.1:c.772G>A	9.37:g.38411462C>T	ENSP00000366923:p.Val258Met						p.V258M	NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN		GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)	4	794	-			258			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000377694.1	37	c.772G>A	CCDS35017.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311706	0.60414	.	.	ENSG00000137142	ENST00000377694	D	0.86164	-2.08	6.17	5.18	0.71444	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.223981	0.22660	U	0.057212	D	0.92251	0.7542	M	0.83118	2.625	0.27496	N	0.952138	D	0.76494	0.999	D	0.73380	0.98	D	0.86332	0.1699	10	0.72032	D	0.01	-4.2825	7.3392	0.26627	0.0:0.8681:0.0:0.1319	.	258	Q8WX77	IBPL1_HUMAN	M	258	ENSP00000366923:V258M	ENSP00000366923:V258M	V	-	1	0	IGFBPL1	38401462	0.982000	0.34865	0.909000	0.35828	0.508000	0.34012	2.653000	0.46691	2.941000	0.99782	0.655000	0.94253	GTG		0.498	IGFBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052491.1	XM_294567		15	61	0	0	0	1	0	15	61				
SUPT16H	11198	broad.mit.edu	37	14	21829058	21829058	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:21829058C>T	ENST00000216297.2	-	17	2341	c.2003G>A	c.(2002-2004)cGc>cAc	p.R668H		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	668					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AATATTTGGGCGAATGTATAG	0.423																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(2002-2004)cGc>cAc		suppressor of Ty 16 homolog (S. cerevisiae)							115.0	110.0	112.0					14																	21829058		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21829058C>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2003G>A	14.37:g.21829058C>T	ENSP00000216297:p.Arg668His						p.R668H	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	17	2341	-	all_cancers(95;0.00115)		668					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.2003G>A	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945623	0.92593	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.54	4.64	0.57946	FACT complex subunit Spt16p/Cdc68p (1);	0.054203	0.64402	D	0.000001	D	0.86460	0.5938	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90396	0.4399	9	0.87932	D	0	-6.3849	15.2594	0.73610	0.0:0.8586:0.1414:0.0	.	668	Q9Y5B9	SP16H_HUMAN	H	668	.	ENSP00000216297:R668H	R	-	2	0	SUPT16H	20898898	1.000000	0.71417	0.982000	0.44146	0.985000	0.73830	7.024000	0.76443	1.322000	0.45245	0.491000	0.48974	CGC		0.423	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			28	64	0	0	0	1	0	28	64				
DNAJC5B	85479	broad.mit.edu	37	8	66988980	66988980	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:66988980G>A	ENST00000276570.5	+	4	492	c.205G>A	c.(205-207)Gca>Aca	p.A69T	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	69	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CAACGCCCACGCAATACTTAC	0.428																																						ENST00000276570.5																			0				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20						c.(205-207)Gca>Aca		DnaJ (Hsp40) homolog, subfamily C, member 5 beta							172.0	152.0	159.0					8																	66988980		2203	4300	6503	SO:0001583	missense	85479				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr8:66988980G>A	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.205G>A	8.37:g.66988980G>A	ENSP00000276570:p.Ala69Thr					DNAJC5B_ENST00000519330.1_3'UTR	p.A69T	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		4	492	+		Lung NSC(129;0.114)|all_lung(136;0.188)	69			J.		Q969Y8	Missense_Mutation	SNP	ENST00000276570.5	37	c.205G>A	CCDS6183.1	.	.	.	.	.	.	.	.	.	.	G	8.221	0.802481	0.16397	.	.	ENSG00000147570	ENST00000276570;ENST00000522619	T;T	0.30182	1.54;1.54	5.73	3.36	0.38483	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.328077	0.29760	N	0.011271	T	0.15392	0.0371	N	0.12831	0.26	0.34666	D	0.723237	B	0.12630	0.006	B	0.12837	0.008	T	0.14227	-1.0480	10	0.28530	T	0.3	.	7.2761	0.26286	0.6095:0.0:0.3905:0.0	.	69	Q9UF47	DNJ5B_HUMAN	T	69	ENSP00000276570:A69T;ENSP00000430196:A69T	ENSP00000276570:A69T	A	+	1	0	DNAJC5B	67151534	1.000000	0.71417	0.993000	0.49108	0.244000	0.25665	1.389000	0.34453	0.444000	0.26612	-0.302000	0.09304	GCA		0.428	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105		5	340	0	0	0	1	0	5	340				
PTHLH	5744	broad.mit.edu	37	12	28122739	28122739	+	Intron	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:28122739T>C	ENST00000545234.1	-	3	519				PTHLH_ENST00000538310.1_5'Flank|PTHLH_ENST00000201015.4_Intron|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000354417.3_Intron|PTHLH_ENST00000395868.3_De_novo_Start_InFrame|PTHLH_ENST00000539239.1_5'Flank|PTHLH_ENST00000395872.1_Intron|PTHLH_ENST00000535992.1_Intron			P12272	PTHR_HUMAN	parathyroid hormone-like hormone						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					AAAATGGTTTTATATATGCAT	0.403																																						ENST00000395868.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10								parathyroid hormone-like hormone							107.0	114.0	112.0					12																	28122739		876	1991	2867	SO:0001627	intron_variant	5744				activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding	g.chr12:28122739T>C		CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.21+218A>G	12.37:g.28122739T>C						PTHLH_ENST00000545234.1_Intron|PTHLH_ENST00000535992.1_Intron|PTHLH_ENST00000201015.4_Intron|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395872.1_Intron|PTHLH_ENST00000354417.3_Intron		NM_198964.1	NP_945315.1	P12272	PTHR_HUMAN			0	241	-	Lung SC(9;0.184)							Q15251|Q6FH74	Translation_Start_Site	SNP	ENST00000545234.1	37		CCDS44853.1																																																																																				0.403	PTHLH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402913.1	NM_198965		30	124	0	0	0	1	0	30	124				
PHC2	1912	broad.mit.edu	37	1	33841032	33841032	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:33841032T>C	ENST00000257118.5	-	1	162	c.109A>G	c.(109-111)Agt>Ggt	p.S37G	PHC2_ENST00000431992.1_Missense_Mutation_p.S37G|PHC2_ENST00000419414.2_Missense_Mutation_p.S37G|PHC2_ENST00000373416.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	37	Ser-rich.				multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGgcggccacttccaccactg	0.567																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(109-111)Agt>Ggt		polyhomeotic homolog 2 (Drosophila)							44.0	45.0	44.0					1																	33841032		2203	4300	6503	SO:0001583	missense	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33841032T>C	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.109A>G	1.37:g.33841032T>C	ENSP00000257118:p.Ser37Gly					PHC2_ENST00000419414.2_Missense_Mutation_p.S37G|PHC2_ENST00000431992.1_Missense_Mutation_p.S37G|PHC2_ENST00000373416.1_5'UTR	p.S37G	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			1	162	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	37			Ser-rich.		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	c.109A>G	CCDS378.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.482367	0.26598	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000419414	T;T;T	0.39056	1.46;1.1;1.39	5.09	0.96	0.19631	.	0.458058	0.23404	N	0.048553	T	0.26484	0.0647	L	0.34521	1.04	0.23282	N	0.997989	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.13124	-1.0521	10	0.36615	T	0.2	0.2799	6.1849	0.20491	0.0:0.3752:0.0:0.6248	.	37;37;37	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	G	37	ENSP00000389436:S37G;ENSP00000257118:S37G;ENSP00000391440:S37G	ENSP00000257118:S37G	S	-	1	0	PHC2	33613619	0.845000	0.29573	0.321000	0.25320	0.808000	0.45660	2.039000	0.41193	0.329000	0.23460	0.379000	0.24179	AGT		0.567	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		31	81	0	0	0	1	0	31	81				
FCER1A	2205	broad.mit.edu	37	1	159275912	159275912	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:159275912T>C	ENST00000368115.1	+	5	565	c.466T>C	c.(466-468)Tat>Cat	p.Y156H	FCER1A_ENST00000368114.1_Missense_Mutation_p.Y123H	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	156	Ig-like 2.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CAAGTACTGGTATGAGAACCA	0.498																																						ENST00000368115.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(466-468)Tat>Cat		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						181.0	159.0	166.0					1																	159275912		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159275912T>C	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.466T>C	1.37:g.159275912T>C	ENSP00000357097:p.Tyr156His					FCER1A_ENST00000368114.1_Missense_Mutation_p.Y123H	p.Y156H	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN			5	565	+	all_hematologic(112;0.0429)		156			Ig-like 2.			Missense_Mutation	SNP	ENST00000368115.1	37	c.466T>C	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.218400	0.39201	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.09255	3.0;3.0	4.78	4.78	0.61160	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.129362	0.35436	N	0.003214	T	0.08714	0.0216	L	0.36672	1.1	0.36728	D	0.88154	D	0.89917	1.0	D	0.75484	0.986	T	0.09185	-1.0686	10	0.06625	T	0.88	.	10.636	0.45565	0.0:0.0:0.0:1.0	.	156	P12319	FCERA_HUMAN	H	156;123	ENSP00000357097:Y156H;ENSP00000357096:Y123H	ENSP00000357096:Y123H	Y	+	1	0	FCER1A	157542536	0.980000	0.34600	0.223000	0.23860	0.992000	0.81027	2.162000	0.42367	2.000000	0.58554	0.528000	0.53228	TAT		0.498	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		33	84	0	0	0	1	0	33	84				
ADAM20	8748	broad.mit.edu	37	14	70991509	70991509	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:70991509G>T	ENST00000256389.3	-	2	360	c.116C>A	c.(115-117)gCt>gAt	p.A39D	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	0					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TCTGTCTAGAGCAGAAGAGAA	0.542																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(115-117)gCt>gAt		ADAM metallopeptidase domain 20							178.0	131.0	147.0					14																	70991509		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991509G>T	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.116C>A	14.37:g.70991509G>T	ENSP00000256389:p.Ala39Asp					RP11-486O13.4_ENST00000556646.1_lincRNA	p.A39D	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	360	-			0					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.116C>A	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506679	0.26949	.	.	ENSG00000134007	ENST00000256389	T	0.01051	5.4	3.71	-0.889	0.10580	.	.	.	.	.	T	0.01523	0.0049	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.47289	-0.9129	6	0.59425	D	0.04	.	5.3771	0.16172	0.195:0.3111:0.4939:0.0	.	.	.	.	D	39	ENSP00000256389:A39D	ENSP00000256389:A39D	A	-	2	0	ADAM20	70061262	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.044000	0.12023	0.013000	0.14918	0.557000	0.71058	GCT		0.542	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			8	186	1	0	1.06961e-07	1	1.09985e-07	8	186				
ASH1L	55870	broad.mit.edu	37	1	155313465	155313465	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:155313465G>A	ENST00000368346.3	-	23	8704	c.8065C>T	c.(8065-8067)Cga>Tga	p.R2689*	MIR555_ENST00000384987.1_RNA|ASH1L_ENST00000392403.3_Nonsense_Mutation_p.R2684*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2689	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GATAACAGTCGATAGGACTGA	0.473																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(8065-8067)Cga>Tga		ash1 (absent, small, or homeotic)-like (Drosophila)							91.0	87.0	89.0					1																	155313465		2203	4300	6503	SO:0001587	stop_gained	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155313465G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8065C>T	1.37:g.155313465G>A	ENSP00000357330:p.Arg2689*					ASH1L_ENST00000392403.3_Nonsense_Mutation_p.R2684*	p.R2689*			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		23	8704	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2689			BAH.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Nonsense_Mutation	SNP	ENST00000368346.3	37	c.8065C>T		.	.	.	.	.	.	.	.	.	.	G	51	18.438410	0.99905	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	4.93	1.45	0.22620	.	0.057750	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.727	0.69351	0.0:0.0:0.346:0.654	.	.	.	.	X	2689;2684	.	ENSP00000357330:R2689X	R	-	1	2	ASH1L	153580089	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	1.891000	0.39738	0.059000	0.16252	0.561000	0.74099	CGA		0.473	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		18	55	0	0	0	1	0	18	55				
ATP2C2	9914	broad.mit.edu	37	16	84495409	84495409	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:84495409C>T	ENST00000262429.4	+	25	2660	c.2571C>T	c.(2569-2571)tgC>tgT	p.C857C	ATP2C2_ENST00000416219.2_Silent_p.C886C|RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	857					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCTTGACCTGCCGCTCTCAGG	0.597																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(2656-2658)tgC>tgT		ATPase, Ca++ transporting, type 2C, member 2							126.0	144.0	138.0					16																	84495409		2132	4238	6370	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84495409C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2571C>T	16.37:g.84495409C>T						RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.C857C	p.C886C			O75185	AT2C2_HUMAN			26	2747	+			857					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.2658C>T	CCDS42207.1																																																																																				0.597	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		56	137	0	0	0	1	0	56	137				
MAP2	4133	broad.mit.edu	37	2	210558304	210558304	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:210558304A>G	ENST00000360351.4	+	7	1916	c.1410A>G	c.(1408-1410)atA>atG	p.I470M	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I466M|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	470					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATGAAGAAATAGGCATAATTC	0.428																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(1408-1410)atA>atG		microtubule-associated protein 2	Estramustine(DB01196)						54.0	57.0	56.0					2																	210558304		2203	4299	6502	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210558304A>G		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1410A>G	2.37:g.210558304A>G	ENSP00000353508:p.Ile470Met					MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I466M	p.I470M	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	1916	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	470					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.1410A>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	5.483	0.274121	0.10403	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.18960	2.18;2.18;2.18	6.16	-2.07	0.07276	MAP2/Tau projection (1);	0.667620	0.14675	N	0.305089	T	0.06917	0.0176	N	0.02011	-0.69	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.11329	0.003;0.006	T	0.32455	-0.9906	10	0.39692	T	0.17	-0.1602	8.5512	0.33453	0.4219:0.1152:0.4629:0.0	.	466;470	P11137-3;P11137	.;MAP2_HUMAN	M	470;552;466	ENSP00000353508:I470M;ENSP00000409969:I552M;ENSP00000392164:I466M	ENSP00000353508:I470M	I	+	3	3	MAP2	210266549	0.000000	0.05858	0.005000	0.12908	0.693000	0.40251	-1.043000	0.03535	-0.269000	0.09298	0.528000	0.53228	ATA		0.428	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		26	65	0	0	0	1	0	26	65				
SLC16A5	9121	broad.mit.edu	37	17	73096565	73096565	+	Silent	SNP	C	C	T	rs61750012	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:73096565C>T	ENST00000450736.2	+	4	1222	c.807C>T	c.(805-807)gaC>gaT	p.D269D	SLC16A5_ENST00000580123.1_Silent_p.D269D|SLC16A5_ENST00000329783.4_Silent_p.D269D|SLC16A5_ENST00000538213.2_Silent_p.D309D			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	269					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	ACAGCGTGGACGAGCAGCAGG	0.612																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(805-807)gaC>gaT		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						426.0	354.0	378.0					17																	73096565		2203	4300	6503	SO:0001819	synonymous_variant	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73096565C>T	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.807C>T	17.37:g.73096565C>T						SLC16A5_ENST00000580123.1_Silent_p.D269D|SLC16A5_ENST00000329783.4_Silent_p.D269D|SLC16A5_ENST00000538213.2_Silent_p.D309D	p.D269D			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		4	1222	+	all_lung(278;0.226)		269					B4E288	Silent	SNP	ENST00000450736.2	37	c.807C>T	CCDS11713.1																																																																																				0.612	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		8	49	0	0	0	1	0	8	49				
C20orf195	79025	broad.mit.edu	37	20	62187126	62187126	+	Missense_Mutation	SNP	C	C	T	rs148340283	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:62187126C>T	ENST00000370098.3	+	2	202	c.110C>T	c.(109-111)gCg>gTg	p.A37V	C20orf195_ENST00000370097.1_Missense_Mutation_p.A37V	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	37						extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GAACCAGAGGCGTGGAAGACC	0.642													C|||	5	0.000998403	0.0	0.0058	5008	,	,		18990	0.0		0.001	False		,,,				2504	0.0					ENST00000370098.3																			0				large_intestine(3)|lung(4)	7						c.(109-111)gCg>gTg		chromosome 20 open reading frame 195		C	VAL/ALA	0,4406		0,0,2203	48.0	44.0	46.0		110	5.3	0.1	20	dbSNP_134	46	4,8596	3.7+/-12.6	0,4,4296	yes	missense	C20orf195	NM_024059.2	64	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	possibly-damaging	37/319	62187126	4,13002	2203	4300	6503	SO:0001583	missense	79025							g.chr20:62187126C>T		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.110C>T	20.37:g.62187126C>T	ENSP00000359116:p.Ala37Val					C20orf195_ENST00000370097.1_Missense_Mutation_p.A37V	p.A37V	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		2	202	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		37						Missense_Mutation	SNP	ENST00000370098.3	37	c.110C>T	CCDS13526.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	14.40	2.523016	0.44866	0.0	4.65E-4	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.26	5.26	0.73747	.	0.270259	0.26453	N	0.024297	T	0.19967	0.0480	L	0.27053	0.805	0.29597	N	0.847965	P	0.50066	0.931	B	0.42062	0.374	T	0.09885	-1.0654	9	0.38643	T	0.18	-15.4227	12.6898	0.56968	0.1653:0.8346:0.0:0.0	.	37	Q9BVV2	CT195_HUMAN	V	37	.	ENSP00000359115:A37V	A	+	2	0	C20orf195	61657570	0.981000	0.34729	0.114000	0.21550	0.040000	0.13550	2.813000	0.48002	2.444000	0.82710	0.655000	0.94253	GCG		0.642	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		12	58	0	0	0	1	0	12	58				
ABCB11	8647	broad.mit.edu	37	2	169847374	169847374	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:169847374T>C	ENST00000263817.6	-	9	969	c.845A>G	c.(844-846)gAt>gGt	p.D282G		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	282	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AATGACTTCATCAGCCACCAC	0.398																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(844-846)gAt>gGt		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						179.0	182.0	181.0					2																	169847374		1914	4124	6038	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169847374T>C	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.845A>G	2.37:g.169847374T>C	ENSP00000263817:p.Asp282Gly						p.D282G	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			9	969	-			282			ABC transmembrane type-1 1.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.845A>G	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.697694	0.88830	.	.	ENSG00000073734	ENST00000263817	D	0.89415	-2.51	5.53	5.53	0.82687	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.044063	0.85682	D	0.000000	D	0.91253	0.7243	L	0.37561	1.115	0.80722	D	1	D	0.59767	0.986	D	0.67900	0.954	D	0.92101	0.5688	10	0.62326	D	0.03	-0.4331	15.9509	0.79835	0.0:0.0:0.0:1.0	.	282	O95342	ABCBB_HUMAN	G	282	ENSP00000263817:D282G	ENSP00000263817:D282G	D	-	2	0	ABCB11	169555620	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.970000	0.88000	2.225000	0.72522	0.533000	0.62120	GAT		0.398	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		29	285	0	0	0	1	0	29	285				
MTMR14	64419	broad.mit.edu	37	3	9703965	9703965	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:9703965T>C	ENST00000296003.4	+	3	445	c.323T>C	c.(322-324)gTa>gCa	p.V108A	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Missense_Mutation_p.V108A|MTMR14_ENST00000353332.5_Missense_Mutation_p.V108A	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	108					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GAGAGTACCGTACAGGTGAGC	0.507																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(322-324)gTa>gCa		myotubularin related protein 14							114.0	115.0	115.0					3																	9703965		2038	4199	6237	SO:0001583	missense	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9703965T>C	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.323T>C	3.37:g.9703965T>C	ENSP00000296003:p.Val108Ala					MTMR14_ENST00000353332.5_Missense_Mutation_p.V108A|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Missense_Mutation_p.V108A	p.V108A	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			3	445	+	Medulloblastoma(99;0.227)		108					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	37	c.323T>C	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614846	0.87359	.	.	ENSG00000163719	ENST00000353332;ENST00000296003;ENST00000351233;ENST00000419048	D;D;D	0.94897	-3.55;-3.55;-3.55	6.01	6.01	0.97437	.	0.054703	0.64402	D	0.000001	D	0.96131	0.8739	L	0.53249	1.67	0.80722	D	1	D;D;P	0.67145	0.996;0.983;0.567	D;P;B	0.76071	0.987;0.631;0.109	D	0.95128	0.8252	10	0.30854	T	0.27	-0.0354	16.2019	0.82087	0.0:0.0:0.0:1.0	.	108;108;108	Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;MTMRE_HUMAN	A	108	ENSP00000323462:V108A;ENSP00000296003:V108A;ENSP00000334070:V108A	ENSP00000296003:V108A	V	+	2	0	MTMR14	9678965	1.000000	0.71417	0.928000	0.36995	0.896000	0.52359	7.451000	0.80668	2.307000	0.77673	0.528000	0.53228	GTA		0.507	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		22	56	0	0	0	1	0	22	56				
NOTCH1	4851	broad.mit.edu	37	9	139395187	139395187	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:139395187G>A	ENST00000277541.6	-	31	5826	c.5751C>T	c.(5749-5751)ggC>ggT	p.G1917G		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1917					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)			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)		GCAGGCTGGCGCCCTGGTAGA	0.692			"""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		0				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.(5749-5751)ggC>ggT		notch 1							59.0	73.0	68.0					9																	139395187		2142	4265	6407	SO:0001819	synonymous_variant	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.chr9:139395187G>A	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.5751C>T	9.37:g.139395187G>A		HNSCC(8;0.001)					p.G1917G	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	31	5826	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1917					Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.5751C>T	CCDS43905.1																																																																																				0.692	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		51	152	0	0	0	1	0	51	152				
MB21D2	151963	broad.mit.edu	37	3	192516295	192516295	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:192516295G>T	ENST00000392452.2	-	2	1676	c.1356C>A	c.(1354-1356)gaC>gaA	p.D452E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	452							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCCAAACGGTCATCAGGCT	0.552																																						ENST00000392452.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(1354-1356)gaC>gaA		Mab-21 domain containing 2							106.0	110.0	109.0					3																	192516295		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192516295G>T	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.1356C>A	3.37:g.192516295G>T	ENSP00000376246:p.Asp452Glu						p.D452E	NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN			2	1676	-			452					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.1356C>A	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	9.044	0.990468	0.18966	.	.	ENSG00000180611	ENST00000392452	T	0.43294	0.95	5.27	4.39	0.52855	.	0.047165	0.85682	D	0.000000	T	0.23688	0.0573	N	0.19112	0.55	0.58432	D	0.999992	B	0.29862	0.259	B	0.24541	0.054	T	0.05971	-1.0853	10	0.17832	T	0.49	-4.0833	9.2667	0.37645	0.1626:0.0:0.8374:0.0	.	452	Q8IYB1	M21D2_HUMAN	E	452	ENSP00000376246:D452E	ENSP00000376246:D452E	D	-	3	2	MB21D2	193998989	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.406000	0.44557	1.205000	0.43262	0.650000	0.86243	GAC		0.552	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		46	139	1	0	6.68952e-21	1	7.05551e-21	46	139				
FAM24B	196792	broad.mit.edu	37	10	124608784	124608784	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:124608784G>A	ENST00000368898.3	-	4	554	c.264C>T	c.(262-264)tgC>tgT	p.C88C	CUZD1_ENST00000368904.1_5'UTR|FAM24B_ENST00000368896.1_Silent_p.C88C|CUZD1_ENST00000545804.1_Intron|FAM24B_ENST00000462859.1_5'UTR	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	88						extracellular region (GO:0005576)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		CATTTATGTCGCAACAGCAAG	0.448																																						ENST00000368898.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(262-264)tgC>tgT		family with sequence similarity 24, member B							117.0	98.0	104.0					10																	124608784		2203	4300	6503	SO:0001819	synonymous_variant	196792					extracellular region		g.chr10:124608784G>A	BC031343	CCDS31303.1	10q26.13	2004-05-27			ENSG00000213185	ENSG00000213185			23475	protein-coding gene	gene with protein product						12477932	Standard	NM_152644		Approved	MGC45962, AC073585.2	uc021qai.1	Q8N5W8	OTTHUMG00000019194	ENST00000368898.3:c.264C>T	10.37:g.124608784G>A						FAM24B_ENST00000462859.1_5'UTR|CUZD1_ENST00000368904.1_5'UTR|CUZD1_ENST00000545804.1_Intron|FAM24B_ENST00000368896.1_Silent_p.C88C	p.C88C	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)	4	554	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	88					Q5JPG1	Silent	SNP	ENST00000368898.3	37	c.264C>T	CCDS31303.1																																																																																				0.448	FAM24B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050825.1	NM_152644		28	73	0	0	0	1	0	28	73				
MYT1L	23040	broad.mit.edu	37	2	1893175	1893175	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:1893175G>A	ENST00000399161.2	-	16	3105	c.2358C>T	c.(2356-2358)tgC>tgT	p.C786C	MYT1L_ENST00000428368.2_Silent_p.C784C	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	786					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGATGGGGCAGCAGCTGTCCC	0.612																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2356-2358)tgC>tgT		myelin transcription factor 1-like							57.0	62.0	60.0					2																	1893175		2046	4177	6223	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1893175G>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2358C>T	2.37:g.1893175G>A						MYT1L_ENST00000428368.2_Silent_p.C784C	p.C786C	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	16	3105	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	786					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.2358C>T																																																																																					0.612	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		26	82	0	0	0	1	0	26	82				
CENPU	79682	broad.mit.edu	37	4	185650087	185650087	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:185650087T>C	ENST00000281453.5	-	3	269	c.199A>G	c.(199-201)Act>Gct	p.T67A	MLF1IP_ENST00000541971.1_Missense_Mutation_p.T67A	NM_024629.3	NP_078905.2														endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GTCTCATAAGTTTCTTCATCT	0.353																																						ENST00000281453.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13						c.(199-201)Act>Gct									92.0	92.0	92.0					4																	185650087		2203	4300	6503	SO:0001583	missense	79682				CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr4:185650087T>C																												ENST00000281453.5:c.199A>G	4.37:g.185650087T>C	ENSP00000281453:p.Thr67Ala					MLF1IP_ENST00000541971.1_Missense_Mutation_p.T67A	p.T67A	NM_024629.3	NP_078905.2	Q71F23	CENPU_HUMAN		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)	3	269	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)	67						Missense_Mutation	SNP	ENST00000281453.5	37	c.199A>G	CCDS3838.1	.	.	.	.	.	.	.	.	.	.	T	8.443	0.851246	0.17034	.	.	ENSG00000151725	ENST00000281453;ENST00000541665;ENST00000541971;ENST00000514781	T;T;T	0.43688	2.56;2.55;0.94	5.04	1.09	0.20402	.	0.389772	0.21916	N	0.067239	T	0.19604	0.0471	N	0.14661	0.345	0.21553	N	0.999644	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.09818	-1.0657	10	0.30078	T	0.28	-5.6902	3.4874	0.07625	0.1955:0.0:0.4524:0.352	.	67;67	Q09GN1;Q71F23	.;CENPU_HUMAN	A	67;67;67;38	ENSP00000281453:T67A;ENSP00000445862:T67A;ENSP00000423167:T38A	ENSP00000281453:T67A	T	-	1	0	MLF1IP	185887081	0.948000	0.32251	0.899000	0.35326	0.388000	0.30384	0.472000	0.22116	0.299000	0.22661	-0.132000	0.14878	ACT		0.353	MLF1IP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360841.2			13	72	0	0	0	1	0	13	72				
ACSS1	84532	broad.mit.edu	37	20	25004174	25004174	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:25004174C>T	ENST00000323482.4	-	4	814	c.735G>A	c.(733-735)gtG>gtA	p.V245V	ACSS1_ENST00000537502.1_Silent_p.V162V|ACSS1_ENST00000432802.2_Silent_p.V245V|ACSS1_ENST00000542618.1_Silent_p.V124V	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	245					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGACATGCTGCACGGTGGGGC	0.577																																						ENST00000537502.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(484-486)gtG>gtA		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						115.0	84.0	95.0					20																	25004174		2203	4300	6503	SO:0001819	synonymous_variant	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:25004174C>T		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.735G>A	20.37:g.25004174C>T						ACSS1_ENST00000323482.4_Silent_p.V245V|ACSS1_ENST00000542618.1_Silent_p.V124V|ACSS1_ENST00000432802.2_Silent_p.V245V	p.V162V			Q9NUB1	ACS2L_HUMAN			2	2017	-			245					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	ENST00000323482.4	37	c.486G>A	CCDS13167.1																																																																																				0.577	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		8	35	0	0	0	1	0	8	35				
CDH26	60437	broad.mit.edu	37	20	58569540	58569540	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:58569540T>C	ENST00000244047.5	+	11	1973	c.1662T>C	c.(1660-1662)aaT>aaC	p.N554N	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244049.3_5'Flank|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000348616.4_Silent_p.N554N			Q8IXH8	CAD26_HUMAN	cadherin 26	554					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGGGGAGAAATTGGGGTGAGT	0.428																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1660-1662)aaT>aaC		cadherin 26							36.0	35.0	35.0					20																	58569540		2203	4300	6503	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58569540T>C	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1662T>C	20.37:g.58569540T>C						CDH26_ENST00000244047.5_Silent_p.N554N|CDH26_ENST00000497614.1_3'UTR	p.N554N	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		11	1962	+	all_lung(29;0.00963)		554					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.1662T>C		.	.	.	.	.	.	.	.	.	.	T	8.909	0.958137	0.18507	.	.	ENSG00000124215	ENST00000370991	.	.	.	4.19	-5.05	0.02955	.	.	.	.	.	T	0.24851	0.0603	.	.	.	0.19945	N	0.999941	.	.	.	.	.	.	T	0.25293	-1.0136	4	.	.	.	.	5.674	0.17737	0.0:0.3243:0.2679:0.4078	.	.	.	.	T	146	.	.	I	+	2	0	CDH26	58002935	0.000000	0.05858	0.000000	0.03702	0.534000	0.34807	-0.057000	0.11768	-1.614000	0.01575	0.533000	0.62120	ATT		0.428	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		14	51	0	0	0	1	0	14	51				
MED24	9862	broad.mit.edu	37	17	38209791	38209791	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:38209791A>G	ENST00000394128.2	-	2	142	c.61T>C	c.(61-63)Tac>Cac	p.Y21H	MED24_ENST00000479829.1_5'UTR|MED24_ENST00000356271.3_Missense_Mutation_p.Y21H|MED24_ENST00000394126.1_Missense_Mutation_p.Y46H|MED24_ENST00000501516.3_Missense_Mutation_p.Y21H|MED24_ENST00000394127.2_Missense_Mutation_p.Y21H	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	21					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GCCCATTGGTAGTCACTCCAG	0.502																																						ENST00000394126.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(136-138)Tac>Cac		mediator complex subunit 24							163.0	166.0	165.0					17																	38209791		2203	4300	6503	SO:0001583	missense	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38209791A>G	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.61T>C	17.37:g.38209791A>G	ENSP00000377686:p.Tyr21His					MED24_ENST00000394127.2_Missense_Mutation_p.Y21H|MED24_ENST00000356271.3_Missense_Mutation_p.Y21H|MED24_ENST00000501516.3_Missense_Mutation_p.Y21H|MED24_ENST00000479829.1_5'UTR|MED24_ENST00000394128.2_Missense_Mutation_p.Y21H	p.Y46H			O75448	MED24_HUMAN			1	554	-	Colorectal(19;0.000442)		21					A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	c.136T>C	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.845581	0.51164	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000394127;ENST00000536318;ENST00000428757	T;T;T	0.47177	0.85;0.85;0.85	5.88	5.88	0.94601	Mediator complex, subunit Med24, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65080	0.2657	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	0.996;0.999;0.999;1.0	D;D;D;D	0.87578	0.941;0.997;0.998;0.998	T	0.66027	-0.6025	10	0.56958	D	0.05	-19.4594	15.9494	0.79820	1.0:0.0:0.0:0.0	.	21;21;21;21	B9TX65;O75448-2;O75448;F5H0K1	.;.;MED24_HUMAN;.	H	21	ENSP00000348610:Y21H;ENSP00000377686:Y21H;ENSP00000377685:Y21H	ENSP00000348610:Y21H	Y	-	1	0	MED24	35463317	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.206000	0.95056	2.242000	0.73789	0.533000	0.62120	TAC		0.502	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		69	203	0	0	0	1	0	69	203				
CTNNA1	1495	broad.mit.edu	37	5	138160345	138160345	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:138160345G>A	ENST00000302763.7	+	6	805	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	CTNNA1_ENST00000355078.5_Missense_Mutation_p.A136T|CTNNA1_ENST00000518825.1_Missense_Mutation_p.A239T	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	239					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCCTATAAGGCCAACAGGGA	0.567																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(715-717)Gcc>Acc		catenin (cadherin-associated protein), alpha 1, 102kDa							78.0	75.0	76.0					5																	138160345		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138160345G>A	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.715G>A	5.37:g.138160345G>A	ENSP00000304669:p.Ala239Thr					CTNNA1_ENST00000355078.5_Missense_Mutation_p.A136T|CTNNA1_ENST00000518825.1_Missense_Mutation_p.A239T	p.A239T	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	805	+			239					Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.715G>A	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537619	0.85917	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000518910;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.75264	2.295	0.80722	D	1	P;P	0.49253	0.905;0.921	P;P	0.52481	0.524;0.7	T	0.52170	-0.8611	10	0.23302	T	0.38	-11.0629	19.1866	0.93647	0.0:0.0:1.0:0.0	.	239;239	G3XAM7;P35221	.;CTNA1_HUMAN	T	136;239;136;239;224;239	ENSP00000347190:A136T;ENSP00000304669:A239T;ENSP00000430626:A136T;ENSP00000427821:A239T	ENSP00000304669:A239T	A	+	1	0	CTNNA1	138188244	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.636000	0.89361	0.491000	0.48974	GCC		0.567	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		4	102	0	0	0	1	0	4	102				
ATP1B2	482	broad.mit.edu	37	17	7558890	7558890	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:7558890G>A	ENST00000250111.4	+	6	1062	c.655G>A	c.(655-657)Gcc>Acc	p.A219T		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	219	immunoglobulin-like.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		CATGTTCCCCGCCAACGGCAA	0.587																																						ENST00000250111.4																			3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|bone(1)	central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10						c.(655-657)Gcc>Acc		ATPase, Na+/K+ transporting, beta 2 polypeptide							144.0	113.0	124.0					17																	7558890		2203	4300	6503	SO:0001583	missense	482				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	g.chr17:7558890G>A	U45945	CCDS32550.1	17p13.1	2012-10-22			ENSG00000129244	ENSG00000129244	3.6.3.9	"""ATPases / P-type"""	805	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-2"", ""sodium pump subunit beta-2"", ""sodium-potassium ATPase subunit beta 2 (non-catalytic)"""	182331				1699290	Standard	NM_001678		Approved	AMOG	uc002gif.1	P14415		ENST00000250111.4:c.655G>A	17.37:g.7558890G>A	ENSP00000250111:p.Ala219Thr						p.A219T	NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)	6	1062	+		all_cancers(10;0.000178)|Prostate(122;0.081)	219					A0AV17|A8K278|D3DTQ2|O60444	Missense_Mutation	SNP	ENST00000250111.4	37	c.655G>A	CCDS32550.1	.	.	.	.	.	.	.	.	.	.	G	6.798	0.516343	0.12944	.	.	ENSG00000129244	ENST00000250111	T	0.30182	1.54	4.32	3.34	0.38264	.	0.189880	0.46442	D	0.000292	T	0.16727	0.0402	L	0.40543	1.245	0.34921	D	0.748475	P	0.36944	0.574	B	0.28139	0.086	T	0.18461	-1.0336	10	0.15499	T	0.54	1.1611	5.3097	0.15823	0.1032:0.0:0.6933:0.2035	.	219	P14415	AT1B2_HUMAN	T	219	ENSP00000250111:A219T	ENSP00000250111:A219T	A	+	1	0	ATP1B2	7499615	0.942000	0.31987	0.968000	0.41197	0.194000	0.23727	1.653000	0.37323	1.011000	0.39340	-0.823000	0.03104	GCC		0.587	ATP1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440234.1	NM_001678		29	68	0	0	0	1	0	29	68				
DMD	1756	broad.mit.edu	37	X	32235180	32235180	+	Splice_Site	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:32235180C>T	ENST00000357033.4	-	44	6497	c.6291G>A	c.(6289-6291)ggG>ggA	p.G2097G	DMD_ENST00000378677.2_Splice_Site_p.G2093G	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2097					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGTCAAATCGCCTGCAGGTAA	0.333																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.e44-1		dystrophin							39.0	36.0	37.0					X																	32235180		2201	4297	6498	SO:0001630	splice_region_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32235180C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6291-1G>A	X.37:g.32235180C>T						DMD_ENST00000378677.2_Splice_Site_p.G2093_splice	p.G2097_splice	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			44	6497	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2097					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Splice_Site	SNP	ENST00000357033.4	37	c.6290_splice	CCDS14233.1																																																																																				0.333	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	Silent	9	7	0	0	0	1	0	9	7				
DDX10	1662	broad.mit.edu	37	11	108562670	108562670	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:108562670G>A	ENST00000322536.3	+	8	1172	c.1043G>A	c.(1042-1044)cGa>cAa	p.R348Q	DDX10_ENST00000526794.1_Missense_Mutation_p.R348Q	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	348	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CTCCATGGTCGACAGCAGCAA	0.468			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(1042-1044)cGa>cAa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							144.0	129.0	134.0					11																	108562670		2201	4298	6499	SO:0001583	missense	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108562670G>A	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1043G>A	11.37:g.108562670G>A	ENSP00000314348:p.Arg348Gln					DDX10_ENST00000322536.3_Missense_Mutation_p.R348Q	p.R348Q			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	8	1075	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	348			Helicase C-terminal.		B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	c.1043G>A	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796472	0.31777	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.04603	3.59;3.59	5.48	4.46	0.54185	Helicase, C-terminal (3);	0.112000	0.64402	D	0.000017	T	0.03651	0.0104	L	0.33710	1.025	0.24938	N	0.99187	P;P	0.48016	0.904;0.904	B;B	0.39771	0.309;0.309	T	0.42155	-0.9468	10	0.52906	T	0.07	-8.322	3.5627	0.07888	0.3577:0.0:0.6423:0.0	.	348;348	Q13206;E9PIF2	DDX10_HUMAN;.	Q	348;254;348	ENSP00000314348:R348Q;ENSP00000432032:R348Q	ENSP00000314348:R348Q	R	+	2	0	DDX10	108067880	1.000000	0.71417	0.362000	0.25862	0.173000	0.22820	6.029000	0.70895	2.569000	0.86673	0.591000	0.81541	CGA		0.468	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		37	90	0	0	0	1	0	37	90				
ASH1L	55870	broad.mit.edu	37	1	155448901	155448901	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:155448901G>A	ENST00000368346.3	-	3	4399	c.3760C>T	c.(3760-3762)Cgc>Tgc	p.R1254C	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1254C			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1254					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGATTCCTGCGCTTACATTTG	0.393																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(3760-3762)Cgc>Tgc		ash1 (absent, small, or homeotic)-like (Drosophila)							180.0	188.0	186.0					1																	155448901		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155448901G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3760C>T	1.37:g.155448901G>A	ENSP00000357330:p.Arg1254Cys					ASH1L_ENST00000392403.3_Missense_Mutation_p.R1254C	p.R1254C			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	4399	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1254					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.3760C>T		.	.	.	.	.	.	.	.	.	.	G	18.17	3.564251	0.65651	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.92397	-3.03;-3.03	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.91119	0.7204	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.948;0.977	D	0.93260	0.6642	10	0.87932	D	0	.	18.4995	0.90876	0.0:0.0:1.0:0.0	.	1254;1254	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	C	1254	ENSP00000357330:R1254C;ENSP00000376204:R1254C	ENSP00000357330:R1254C	R	-	1	0	ASH1L	153715525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.355000	0.73041	2.700000	0.92200	0.585000	0.79938	CGC		0.393	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		55	171	0	0	0	1	0	55	171				
STK4	6789	broad.mit.edu	37	20	43623734	43623734	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:43623734A>G	ENST00000372806.3	+	6	624	c.529A>G	c.(529-531)Acc>Gcc	p.T177A	STK4_ENST00000372801.1_Missense_Mutation_p.T177A|STK4_ENST00000499879.2_Missense_Mutation_p.T122A|STK4_ENST00000396731.4_Missense_Mutation_p.T177A	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	177	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				ATTTTAGGATACCATGGCCAA	0.398																																					GBM(187;1039 2137 11798 21916 33213)	ENST00000372806.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(529-531)Acc>Gcc		serine/threonine kinase 4							132.0	128.0	129.0					20																	43623734		2203	4300	6503	SO:0001583	missense	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43623734A>G		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.529A>G	20.37:g.43623734A>G	ENSP00000361892:p.Thr177Ala					STK4_ENST00000499879.2_Missense_Mutation_p.T122A|STK4_ENST00000396731.4_Missense_Mutation_p.T177A|STK4_ENST00000372801.1_Missense_Mutation_p.T177A	p.T177A	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN			6	624	+		Myeloproliferative disorder(115;0.0122)	177			Protein kinase.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	c.529A>G	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.823296	0.90873	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.9	5.9	0.94986	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.22820	0.0551	N	0.24115	0.695	0.80722	D	1	D;B;B;B	0.52996	0.957;0.07;0.086;0.086	P;B;B;B	0.60068	0.868;0.218;0.138;0.325	T	0.01484	-1.1343	10	0.66056	D	0.02	.	16.3317	0.83023	1.0:0.0:0.0:0.0	.	122;177;177;177	F5H5B4;Q13043-2;A0PJ51;Q13043	.;.;.;STK4_HUMAN	A	177;177;177;122	ENSP00000361892:T177A;ENSP00000379957:T177A;ENSP00000361887:T177A;ENSP00000443514:T122A	ENSP00000361887:T177A	T	+	1	0	STK4	43057148	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.832000	0.92079	2.264000	0.75181	0.533000	0.62120	ACC		0.398	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		40	116	0	0	0	1	0	40	116				
TEX15	56154	broad.mit.edu	37	8	30700428	30700428	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:30700428T>C	ENST00000256246.2	-	1	6180	c.6106A>G	c.(6106-6108)Aca>Gca	p.T2036A		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2036					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTTCTTCTGTGATAAAAATA	0.313																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(6106-6108)Aca>Gca		testis expressed 15							20.0	22.0	21.0					8																	30700428		2179	4285	6464	SO:0001583	missense	56154							g.chr8:30700428T>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6106A>G	8.37:g.30700428T>C	ENSP00000256246:p.Thr2036Ala						p.T2036A	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	6180	-			2036						Missense_Mutation	SNP	ENST00000256246.2	37	c.6106A>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.990149	0.54041	.	.	ENSG00000133863	ENST00000256246	T	0.11277	2.79	5.43	4.2	0.49525	.	0.240266	0.30235	N	0.010086	T	0.21307	0.0513	L	0.51422	1.61	0.25472	N	0.987813	D	0.65815	0.995	P	0.59424	0.857	T	0.01635	-1.1307	10	0.87932	D	0	.	10.7143	0.46002	0.1428:0.0:0.0:0.8572	.	2036	Q9BXT5	TEX15_HUMAN	A	2036	ENSP00000256246:T2036A	ENSP00000256246:T2036A	T	-	1	0	TEX15	30819970	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.344000	0.52174	2.195000	0.70347	0.477000	0.44152	ACA		0.313	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			7	26	0	0	0	1	0	7	26				
DNAH3	55567	broad.mit.edu	37	16	21042591	21042591	+	Missense_Mutation	SNP	A	A	G	rs201066816		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:21042591A>G	ENST00000261383.3	-	37	5214	c.5215T>C	c.(5215-5217)Ttt>Ctt	p.F1739L	DNAH3_ENST00000415178.1_Missense_Mutation_p.F1739L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1739	AAA 2. {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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCACAGCAAACTCCTCCATC	0.493																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(5215-5217)Ttt>Ctt		dynein, axonemal, heavy chain 3							103.0	82.0	89.0					16																	21042591		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21042591A>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5215T>C	16.37:g.21042591A>G	ENSP00000261383:p.Phe1739Leu					DNAH3_ENST00000415178.1_Missense_Mutation_p.F1739L	p.F1739L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	37	5214	-			1739			AAA 2 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.5215T>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	7.941	0.742722	0.15642	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;D	0.86297	1.86;-2.1	5.71	5.71	0.89125	.	0.137026	0.48286	D	0.000200	T	0.79569	0.4468	L	0.39467	1.215	0.50171	D	0.999857	P	0.35745	0.518	B	0.27500	0.08	T	0.77691	-0.2493	10	0.11485	T	0.65	.	15.9854	0.80147	1.0:0.0:0.0:0.0	.	1739	Q8TD57	DYH3_HUMAN	L	1739	ENSP00000261383:F1739L;ENSP00000394245:F1739L	ENSP00000261383:F1739L	F	-	1	0	DNAH3	20950092	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	5.042000	0.64202	2.165000	0.68154	0.533000	0.62120	TTT		0.493	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		5	77	0	0	0	1	0	5	77				
TEX15	56154	broad.mit.edu	37	8	30694437	30694437	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:30694437A>G	ENST00000256246.2	-	3	8288	c.8214T>C	c.(8212-8214)ccT>ccC	p.P2738P		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2738					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATTAGAAGCAGGTATTTGAG	0.398																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(8212-8214)ccT>ccC		testis expressed 15							98.0	103.0	101.0					8																	30694437		2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30694437A>G	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.8214T>C	8.37:g.30694437A>G							p.P2738P	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	8288	-			2738						Silent	SNP	ENST00000256246.2	37	c.8214T>C	CCDS6080.1																																																																																				0.398	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			29	135	0	0	0	1	0	29	135				
RAD51D	5892	broad.mit.edu	37	17	33430517	33430517	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:33430517A>T	ENST00000345365.6	-	7	878	c.623T>A	c.(622-624)gTc>gAc	p.V208D	RAD51D_ENST00000394589.4_Missense_Mutation_p.V208D|RAD51D_ENST00000460118.2_Missense_Mutation_p.V89D|RAD51D_ENST00000335858.7_Missense_Mutation_p.V96D|RAD51D_ENST00000360276.3_Missense_Mutation_p.V163D|RAD51D_ENST00000590016.1_Missense_Mutation_p.V228D|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.V49D|RAD51D_ENST00000590380.1_5'UTR	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	208					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CACCGCAGTGACCGAGTCCAC	0.567								Direct reversal of damage																														ENST00000345365.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(622-624)gTc>gAc	Direct reversal of damage	RAD51 paralog D							107.0	88.0	95.0					17																	33430517		2203	4300	6503	SO:0001583	missense	5892				DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr17:33430517A>T	AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"""recombination repair protein"", ""DNA repair protein RAD51 homolog 4"""	602954	"""RAD51 (S. cerevisiae)-like 3"", ""RAD51-like 3 (S. cerevisiae)"", ""RAD51 homolog D (S. cerevisiae)"""	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.623T>A	17.37:g.33430517A>T	ENSP00000338790:p.Val208Asp					RAD51D_ENST00000460118.2_Missense_Mutation_p.V89D|RAD51D_ENST00000360276.3_Missense_Mutation_p.V163D|RAD51D_ENST00000394589.4_Missense_Mutation_p.V208D|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000590016.1_Missense_Mutation_p.V228D|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.V49D|RAD51D_ENST00000335858.7_Missense_Mutation_p.V96D	p.V208D	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN			7	878	-			208					B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	Missense_Mutation	SNP	ENST00000345365.6	37	c.623T>A	CCDS11287.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.999882	0.35320	.	.	ENSG00000185379	ENST00000345365;ENST00000394589;ENST00000335858;ENST00000360276;ENST00000345766;ENST00000418935	T;T	0.68624	-0.34;-0.34	5.05	5.05	0.67936	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86522	0.5953	H	0.96080	3.765	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.997;0.988	D	0.90105	0.4187	10	0.87932	D	0	-29.833	12.2764	0.54737	1.0:0.0:0.0:0.0	.	228;96;208;208	B4DJU7;O75771-3;O75771;F8W8E6	.;.;RA51D_HUMAN;.	D	208;228;208;163;96;208	ENSP00000338790:V208D;ENSP00000353417:V163D	ENSP00000338408:V208D	V	-	2	0	RAD51D	30454630	1.000000	0.71417	0.962000	0.40283	0.738000	0.42128	6.302000	0.72788	2.126000	0.65437	0.482000	0.46254	GTC		0.567	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256446.1	NM_002878		15	59	0	0	0	1	0	15	59				
DDX21	9188	broad.mit.edu	37	10	70741317	70741317	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:70741317G>A	ENST00000354185.4	+	14	2160	c.2062G>A	c.(2062-2064)Gca>Aca	p.A688T		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	688					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTACCTACCGCATCAGTAAC	0.318																																						ENST00000354185.4																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(2062-2064)Gca>Aca		DEAD (Asp-Glu-Ala-Asp) box helicase 21							186.0	172.0	177.0					10																	70741317		2203	4300	6503	SO:0001583	missense	9188					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr10:70741317G>A	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.2062G>A	10.37:g.70741317G>A	ENSP00000346120:p.Ala688Thr						p.A688T	NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN			14	2160	+			688					B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	ENST00000354185.4	37	c.2062G>A	CCDS31211.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890867	0.52014	.	.	ENSG00000165732	ENST00000354185	T	0.16597	2.33	5.8	5.8	0.92144	GUCT (1);	0.390934	0.31507	N	0.007535	T	0.12561	0.0305	N	0.14661	0.345	0.39160	D	0.962382	B	0.16603	0.018	B	0.17098	0.017	T	0.12319	-1.0552	10	0.35671	T	0.21	-38.5785	16.7823	0.85566	0.0:0.0:1.0:0.0	.	688	Q9NR30	DDX21_HUMAN	T	688	ENSP00000346120:A688T	ENSP00000346120:A688T	A	+	1	0	DDX21	70411323	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	6.669000	0.74462	2.735000	0.93741	0.655000	0.94253	GCA		0.318	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728		14	51	0	0	0	1	0	14	51				
CACNA2D4	93589	broad.mit.edu	37	12	2019090	2019090	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:2019090T>C	ENST00000382722.5	-	4	830	c.468A>G	c.(466-468)gaA>gaG	p.E156E	CACNA2D4_ENST00000585708.1_Silent_p.E92E|CACNA2D4_ENST00000585732.1_Silent_p.E156E|CACNA2D4_ENST00000587995.1_Silent_p.E156E|CACNA2D4_ENST00000586184.1_Silent_p.E156E|CACNA2D4_ENST00000588077.1_Silent_p.E92E	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	156					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ATTCATTGAATTCGTGGTTCA	0.587																																					Colon(2;101 179 21030 23310 28141)	ENST00000382722.5																			0				endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(466-468)gaA>gaG		calcium channel, voltage-dependent, alpha 2/delta subunit 4							47.0	51.0	50.0					12																	2019090		1928	4137	6065	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:2019090T>C	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.468A>G	12.37:g.2019090T>C						CACNA2D4_ENST00000585708.1_Silent_p.E92E|CACNA2D4_ENST00000588077.1_Silent_p.E92E|CACNA2D4_ENST00000585732.1_Silent_p.E156E|CACNA2D4_ENST00000586184.1_Silent_p.E156E|CACNA2D4_ENST00000587995.1_Silent_p.E156E	p.E156E	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	4	830	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	156					Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.468A>G	CCDS44785.1																																																																																				0.587	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			5	37	0	0	0	1	0	5	37				
TNFAIP3	7128	broad.mit.edu	37	6	138196092	138196092	+	Missense_Mutation	SNP	C	C	T	rs200740561		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:138196092C>T	ENST00000237289.4	+	3	472	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	136	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.R136fs*3(2)|p.R136fs*4(1)|p.W113_F140del(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AACAGACACACGCAACTTTAA	0.488			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4				Rec	yes		6	6q23	7128	"""D, N, F"""	"""tumor necrosis factor, alpha-induced protein 3"""			L			"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""		29	Whole gene deletion(25)|Deletion - Frameshift(2)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.0?(25)|p.R136fs*3(2)|p.R136fs*4(1)|p.W113_F140del(1)	haematopoietic_and_lymphoid_tissue(29)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225						c.(406-408)Cgc>Tgc		tumor necrosis factor, alpha-induced protein 3							124.0	119.0	121.0					6																	138196092		2203	4300	6503	SO:0001583	missense	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138196092C>T	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.406C>T	6.37:g.138196092C>T	ENSP00000237289:p.Arg136Cys						p.R136C	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	3	472	+	Breast(32;0.135)|Colorectal(23;0.24)		136			OTU.|TRAF-binding.		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	c.406C>T	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457598	0.84317	.	.	ENSG00000118503	ENST00000420009;ENST00000237289;ENST00000535574;ENST00000535332;ENST00000539356;ENST00000544646;ENST00000536070	T;T	0.31769	1.48;1.48	5.97	5.97	0.96955	Ovarian tumour, otubain (2);	0.220159	0.48767	D	0.000177	T	0.47948	0.1473	M	0.74647	2.275	0.58432	D	0.999999	D	0.89917	1.0	P	0.60609	0.877	T	0.48163	-0.9059	10	0.87932	D	0	-3.5671	18.5941	0.91224	0.0:1.0:0.0:0.0	.	136	P21580	TNAP3_HUMAN	C	136	ENSP00000401562:R136C;ENSP00000237289:R136C	ENSP00000237289:R136C	R	+	1	0	TNFAIP3	138237785	0.998000	0.40836	0.968000	0.41197	0.966000	0.64601	3.475000	0.53136	2.819000	0.97034	0.655000	0.94253	CGC		0.488	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			28	106	0	0	0	1	0	28	106				
TMPRSS15	5651	broad.mit.edu	37	21	19666640	19666640	+	Silent	SNP	G	G	A	rs377055842		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:19666640G>A	ENST00000284885.3	-	21	2466	c.2433C>T	c.(2431-2433)ggC>ggT	p.G811G		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	811	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CGAGAGATGCGCCGCAGAGCA	0.567																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2431-2433)ggC>ggT		transmembrane protease, serine 15		G		0,4406		0,0,2203	76.0	79.0	78.0		2433	-9.3	0.7	21		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMPRSS15	NM_002772.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		811/1020	19666640	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19666640G>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2433C>T	21.37:g.19666640G>A							p.G811G	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			21	2466	-			811			Peptidase S1.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.2433C>T	CCDS13571.1																																																																																				0.567	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		33	113	0	0	0	1	0	33	113				
GBA2	57704	broad.mit.edu	37	9	35737315	35737315	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35737315G>A	ENST00000378103.3	-	17	3158	c.2635C>T	c.(2635-2637)Cgg>Tgg	p.R879W	GBA2_ENST00000378094.4_3'UTR|GBA2_ENST00000467252.1_5'Flank|GBA2_ENST00000378088.1_3'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.R885W	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	879					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCAGTGGCCGCATGTAGGCC	0.602																																						ENST00000378103.3																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(2635-2637)Cgg>Tgg		glucosidase, beta (bile acid) 2							69.0	63.0	65.0					9																	35737315		2203	4300	6503	SO:0001583	missense	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35737315G>A	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.2635C>T	9.37:g.35737315G>A	ENSP00000367343:p.Arg879Trp					GBA2_ENST00000378088.1_3'UTR|GBA2_ENST00000378094.4_3'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.R885W	p.R879W	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		17	3158	-	all_epithelial(49;0.167)		879					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.2635C>T	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826861	0.90955	.	.	ENSG00000070610	ENST00000378103;ENST00000545786	.	.	.	5.89	5.89	0.94794	Six-hairpin glycosidase-like (1);Glucosylceramidase (1);	0.000000	0.85682	D	0.000000	D	0.87233	0.6126	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89662	0.3877	9	0.87932	D	0	-6.3401	19.2245	0.93812	0.0:0.0:1.0:0.0	.	885;879	F5H7P6;Q9HCG7	.;GBA2_HUMAN	W	879;885	.	ENSP00000367343:R879W	R	-	1	2	GBA2	35727315	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.214000	0.51161	2.789000	0.95967	0.655000	0.94253	CGG		0.602	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		19	73	0	0	0	1	0	19	73				
PNMA3	29944	broad.mit.edu	37	X	152226134	152226134	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:152226134G>A	ENST00000370264.4	+	1	748	c.722G>A	c.(721-723)gGa>gAa	p.G241E	PNMA3_ENST00000370265.4_Missense_Mutation_p.G241E|PNMA3_ENST00000447306.1_Missense_Mutation_p.G241E			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	241					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					caggtgttcggacctgtggag	0.552																																						ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(721-723)gGa>gAa		paraneoplastic Ma antigen 3							128.0	129.0	129.0					X																	152226134		2203	4300	6503	SO:0001583	missense	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226134G>A	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.722G>A	X.37:g.152226134G>A	ENSP00000359286:p.Gly241Glu					PNMA3_ENST00000370265.4_Missense_Mutation_p.G241E|PNMA3_ENST00000370264.4_Missense_Mutation_p.G241E	p.G241E	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN			2	1058	+	Acute lymphoblastic leukemia(192;6.56e-05)		241					D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	c.722G>A	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	g	13.18	2.160037	0.38119	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.12039	2.72;2.72;2.72	1.98	1.98	0.26296	.	.	.	.	.	T	0.31796	0.0808	M	0.75085	2.285	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03630	-1.1018	9	0.42905	T	0.14	.	6.8643	0.24084	0.0:0.0:1.0:0.0	.	241	Q9UL41	PNMA3_HUMAN	E	241	ENSP00000359288:G241E;ENSP00000407642:G241E;ENSP00000359286:G241E	ENSP00000359286:G241E	G	+	2	0	PNMA3	151976790	0.789000	0.28775	0.005000	0.12908	0.015000	0.08874	2.435000	0.44811	1.297000	0.44761	0.464000	0.42555	GGA		0.552	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		80	87	0	0	0	1	0	80	87				
ZNF440	126070	broad.mit.edu	37	19	11942804	11942804	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11942804T>C	ENST00000304060.5	+	4	977	c.813T>C	c.(811-813)taT>taC	p.Y271Y		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCAGATCCTATCGTAGACATG	0.403																																						ENST00000304060.5																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(811-813)taT>taC		zinc finger protein 440							80.0	82.0	81.0					19																	11942804		2200	4297	6497	SO:0001819	synonymous_variant	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11942804T>C	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.813T>C	19.37:g.11942804T>C							p.Y271Y	NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN			4	977	+			271					Q8N1R9	Silent	SNP	ENST00000304060.5	37	c.813T>C	CCDS42503.1																																																																																				0.403	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		4	81	0	0	0	1	0	4	81				
CUL9	23113	broad.mit.edu	37	6	43154058	43154058	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:43154058T>C	ENST00000252050.4	+	4	1200	c.1116T>C	c.(1114-1116)cgT>cgC	p.R372R	CUL9_ENST00000354495.3_Silent_p.R372R|CUL9_ENST00000372647.2_Silent_p.R372R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	372					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCTCCAGCCGTAGTGGCTATG	0.572																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(1114-1116)cgT>cgC		cullin 9							73.0	72.0	72.0					6																	43154058		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43154058T>C	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1116T>C	6.37:g.43154058T>C						CUL9_ENST00000372647.2_Silent_p.R372R|CUL9_ENST00000354495.3_Silent_p.R372R	p.R372R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			4	1200	+			372					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.1116T>C	CCDS4890.1																																																																																				0.572	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		35	112	0	0	0	1	0	35	112				
PCDHA10	56139	broad.mit.edu	37	5	140236622	140236622	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140236622T>C	ENST00000307360.5	+	1	989	c.989T>C	c.(988-990)gTt>gCt	p.V330A	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V330A|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	330	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTATGGTTGGTCACTGC	0.408																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(988-990)gTt>gCt									137.0	130.0	132.0					5																	140236622		2196	4272	6468	SO:0001583	missense	56139							g.chr5:140236622T>C	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.989T>C	5.37:g.140236622T>C	ENSP00000304234:p.Val330Ala					PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V330A|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.V330A	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	989	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.989T>C	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	T	0.092	-1.165123	0.01673	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.50548	0.74;0.74	4.29	-3.37	0.04898	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.21186	0.0510	N	0.11154	0.105	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.11329	0.006;0.002;0.002	T	0.36114	-0.9761	9	0.02654	T	1	.	10.1041	0.42521	0.1398:0.653:0.0:0.2073	.	330;330;330	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	A	330	ENSP00000421030:V330A;ENSP00000304234:V330A	ENSP00000304234:V330A	V	+	2	0	PCDHA10	140216806	0.000000	0.05858	0.979000	0.43373	0.992000	0.81027	-2.173000	0.01265	-0.525000	0.06391	0.459000	0.35465	GTT		0.408	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		25	117	0	0	0	1	0	25	117				
CHD9	80205	broad.mit.edu	37	16	53331006	53331006	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:53331006G>C	ENST00000398510.3	+	29	5736	c.5649G>C	c.(5647-5649)ttG>ttC	p.L1883F	CHD9_ENST00000564845.1_Missense_Mutation_p.L1883F|CHD9_ENST00000566029.1_Missense_Mutation_p.L1883F|CHD9_ENST00000447540.1_Missense_Mutation_p.L1883F			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1883					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATGATAGTTTGGAAAAATATT	0.378																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(5647-5649)ttG>ttC		chromodomain helicase DNA binding protein 9							166.0	164.0	165.0					16																	53331006		1831	4098	5929	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53331006G>C	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5649G>C	16.37:g.53331006G>C	ENSP00000381522:p.Leu1883Phe					CHD9_ENST00000564845.1_Missense_Mutation_p.L1883F|CHD9_ENST00000447540.1_Missense_Mutation_p.L1883F|CHD9_ENST00000398510.3_Missense_Mutation_p.L1883F	p.L1883F			Q3L8U1	CHD9_HUMAN			30	5858	+		all_cancers(37;0.0212)	1883					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.5649G>C		.	.	.	.	.	.	.	.	.	.	G	16.77	3.213818	0.58452	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.92048	-2.96;-2.96	5.19	4.23	0.50019	.	0.000000	0.46442	D	0.000296	D	0.95711	0.8605	M	0.87381	2.88	0.47441	D	0.999421	D;D;D;D	0.89917	0.998;1.0;0.998;0.999	D;D;D;D	0.87578	0.996;0.998;0.991;0.996	D	0.95256	0.8364	10	0.87932	D	0	-5.7796	8.4805	0.33040	0.2912:0.0:0.7088:0.0	.	251;1883;1883;1883	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	F	1883;1883;251	ENSP00000396345:L1883F;ENSP00000381522:L1883F	ENSP00000381522:L1883F	L	+	3	2	CHD9	51888507	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.836000	0.27545	1.192000	0.43071	0.484000	0.47621	TTG		0.378	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		32	113	0	0	0	1	0	32	113				
FTO	79068	broad.mit.edu	37	16	53907751	53907751	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:53907751T>A	ENST00000471389.1	+	5	1171	c.949T>A	c.(949-951)Ttt>Att	p.F317I	FTO_ENST00000394647.3_Missense_Mutation_p.F21I	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	317	Alpha-ketoglutarate binding.|Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACAACCTCGGTTTAGTTCCAC	0.403																																						ENST00000471389.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(949-951)Ttt>Att		fat mass and obesity associated							112.0	105.0	108.0					16																	53907751		2198	4300	6498	SO:0001583	missense	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53907751T>A	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.949T>A	16.37:g.53907751T>A	ENSP00000418823:p.Phe317Ile					FTO_ENST00000394647.3_Missense_Mutation_p.F21I	p.F317I	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN			5	1171	+			317			Alpha-ketoglutarate binding.|Fe2OG dioxygenase domain.		A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	c.949T>A	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.639406	0.87760	.	.	ENSG00000140718	ENST00000471389;ENST00000394647	D;D	0.82255	-1.59;-1.59	5.24	5.24	0.73138	Alpha-ketoglutarate-dependent dioxygenase FTO, catalytic domain (1);	0.052501	0.85682	D	0.000000	D	0.89368	0.6695	M	0.70275	2.135	0.52501	D	0.99995	D	0.64830	0.994	D	0.66716	0.946	D	0.90449	0.4437	10	0.87932	D	0	-8.0948	13.1462	0.59463	0.0:0.0:0.0:1.0	.	317	Q9C0B1	FTO_HUMAN	I	317;21	ENSP00000418823:F317I;ENSP00000378142:F21I	ENSP00000378142:F21I	F	+	1	0	FTO	52465252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.187000	0.65087	2.203000	0.70933	0.460000	0.39030	TTT		0.403	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		6	89	0	0	0	1	0	6	89				
OR52R1	119695	broad.mit.edu	37	11	4825605	4825605	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:4825605C>T	ENST00000356069.2	-	1	5	c.6G>A	c.(4-6)gtG>gtA	p.V2V	OR52R1_ENST00000380382.1_Silent_p.V81V|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGAAGCCAGCACCATGGACT	0.458																																						ENST00000380382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(241-243)gtG>gtA		olfactory receptor, family 52, subfamily R, member 1							106.0	95.0	99.0					11																	4825605		2201	4298	6499	SO:0001819	synonymous_variant	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825605C>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.6G>A	11.37:g.4825605C>T						OR52R1_ENST00000356069.2_Silent_p.V2V|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.V81V			Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	242	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	2					Q6IFI0	Silent	SNP	ENST00000356069.2	37	c.243G>A	CCDS31360.2																																																																																				0.458	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		12	74	0	0	0	1	0	12	74				
DLC1	10395	broad.mit.edu	37	8	12957371	12957371	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:12957371G>A	ENST00000276297.4	-	9	2884	c.2475C>T	c.(2473-2475)ggC>ggT	p.G825G	DLC1_ENST00000512044.2_Silent_p.G422G|DLC1_ENST00000520226.1_Silent_p.G314G|DLC1_ENST00000358919.2_Silent_p.G388G	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	825	Focal adhesion-targeting (FAT).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GGGAGAAACTGCCATTGGTGA	0.557																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2473-2475)ggC>ggT		deleted in liver cancer 1							107.0	110.0	109.0					8																	12957371		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957371G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2475C>T	8.37:g.12957371G>A						DLC1_ENST00000512044.2_Silent_p.G422G|DLC1_ENST00000520226.1_Silent_p.G314G|DLC1_ENST00000358919.2_Silent_p.G388G	p.G825G	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2884	-			825					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.2475C>T	CCDS5989.1																																																																																				0.557	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		13	243	0	0	0	1	0	13	243				
ALAS2	212	broad.mit.edu	37	X	55041391	55041391	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:55041391A>G	ENST00000330807.5	-	9	1363	c.1226T>C	c.(1225-1227)aTg>aCg	p.M409T	ALAS2_ENST00000396198.3_Missense_Mutation_p.M396T|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000335854.4_Missense_Mutation_p.M372T	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	409					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GGAGCGCACCATGTCCACCAA	0.542																																						ENST00000330807.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(1225-1227)aTg>aCg		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						42.0	39.0	40.0					X																	55041391		2203	4300	6503	SO:0001583	missense	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55041391A>G		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1226T>C	X.37:g.55041391A>G	ENSP00000332369:p.Met409Thr					ALAS2_ENST00000396198.3_Missense_Mutation_p.M396T|ALAS2_ENST00000335854.4_Missense_Mutation_p.M372T|ALAS2_ENST00000498636.1_5'UTR	p.M409T	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN			9	1363	-			409					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	c.1226T>C	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	A	0.906	-0.720699	0.03182	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.89939	-2.59;-2.59;-2.59	5.55	1.78	0.24846	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.282938	0.43747	N	0.000536	T	0.72399	0.3455	N	0.11818	0.18	0.39614	D	0.969929	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.003;0.006;0.003	T	0.61510	-0.7048	10	0.02654	T	1	-14.8767	7.9728	0.30138	0.5267:0.0:0.4733:0.0	.	372;396;409	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	T	409;396;372	ENSP00000332369:M409T;ENSP00000379501:M396T;ENSP00000337131:M372T	ENSP00000332369:M409T	M	-	2	0	ALAS2	55058116	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.972000	0.56838	0.320000	0.23234	0.441000	0.28932	ATG		0.542	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		10	14	0	0	0	1	0	10	14				
PLEKHM2	23207	broad.mit.edu	37	1	16053852	16053852	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:16053852C>T	ENST00000375799.3	+	9	1512	c.1285C>T	c.(1285-1287)Cgt>Tgt	p.R429C	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.R409C	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	429					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGGTGCTCCCGTGCTGAGCC	0.652																																						ENST00000375799.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(1285-1287)Cgt>Tgt		pleckstrin homology domain containing, family M (with RUN domain) member 2							8.0	9.0	9.0					1																	16053852		1861	4088	5949	SO:0001583	missense	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16053852C>T	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.1285C>T	1.37:g.16053852C>T	ENSP00000364956:p.Arg429Cys					RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.R409C	p.R429C	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	9	1512	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	429					O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	37	c.1285C>T	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	C	8.872	0.949517	0.18356	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.47528	0.86;0.84	5.43	2.44	0.29823	.	0.809118	0.11705	N	0.537497	T	0.26774	0.0655	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16808	-1.0390	10	0.46703	T	0.11	-1.4428	3.5493	0.07840	0.1183:0.5678:0.1151:0.1988	.	429	Q8IWE5	PKHM2_HUMAN	C	429;409	ENSP00000364956:R429C;ENSP00000364950:R409C	ENSP00000364950:R409C	R	+	1	0	PLEKHM2	15926439	0.000000	0.05858	0.005000	0.12908	0.388000	0.30384	0.066000	0.14489	0.623000	0.30267	0.655000	0.94253	CGT		0.652	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		6	13	0	0	0	1	0	6	13				
ENTPD7	57089	broad.mit.edu	37	10	101455822	101455822	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:101455822A>G	ENST00000370489.4	+	9	1131	c.953A>G	c.(952-954)aAc>aGc	p.N318S		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	318						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TTCGGAGGCAACTTTGCCCGG	0.453																																						ENST00000370489.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18						c.(952-954)aAc>aGc		ectonucleoside triphosphate diphosphohydrolase 7							120.0	112.0	115.0					10																	101455822		2203	4300	6503	SO:0001583	missense	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101455822A>G	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.953A>G	10.37:g.101455822A>G	ENSP00000359520:p.Asn318Ser						p.N318S	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	9	1131	+		Colorectal(252;0.234)	318					B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	c.953A>G	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.446822	0.84101	.	.	ENSG00000198018	ENST00000370489	T	0.12147	2.71	4.85	4.85	0.62838	.	0.095527	0.64402	N	0.000001	T	0.40719	0.1128	M	0.84082	2.675	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.37641	-0.9697	10	0.52906	T	0.07	-23.5673	14.8798	0.70522	1.0:0.0:0.0:0.0	.	318	Q9NQZ7	ENTP7_HUMAN	S	318	ENSP00000359520:N318S	ENSP00000359520:N318S	N	+	2	0	ENTPD7	101445812	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.087000	0.94110	2.160000	0.67779	0.533000	0.62120	AAC		0.453	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		7	101	0	0	0	1	0	7	101				
PBXIP1	57326	broad.mit.edu	37	1	154924305	154924305	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:154924305A>G	ENST00000368463.3	-	3	215	c.144T>C	c.(142-144)gaT>gaC	p.D48D	PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368465.1_Silent_p.D19D|PBXIP1_ENST00000368460.3_Silent_p.D48D|PBXIP1_ENST00000498553.1_Intron|PBXIP1_ENST00000542459.1_Intron	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	48					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATTCTTTCCCATCTGTCTTGG	0.562																																						ENST00000368463.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(142-144)gaT>gaC		pre-B-cell leukemia homeobox interacting protein 1							158.0	167.0	164.0					1																	154924305		2203	4300	6503	SO:0001819	synonymous_variant	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154924305A>G	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.144T>C	1.37:g.154924305A>G						PBXIP1_ENST00000368460.3_Silent_p.D48D|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368465.1_Silent_p.D19D|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000498553.1_Intron	p.D48D	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	215	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		48					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Silent	SNP	ENST00000368463.3	37	c.144T>C	CCDS1074.1																																																																																				0.562	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		82	210	0	0	0	1	0	82	210				
CNBD2	140894	broad.mit.edu	37	20	34611575	34611575	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:34611575A>T	ENST00000373973.3	+	11	1494	c.1321A>T	c.(1321-1323)Atc>Ttc	p.I441F	CNBD2_ENST00000349339.1_Missense_Mutation_p.I437F|CNBD2_ENST00000538900.1_Intron			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	441																	ACGACCCTTGATCCTGATGAG	0.458																																						ENST00000373973.3																			0											c.(1321-1323)Atc>Ttc		cyclic nucleotide binding domain containing 2							109.0	106.0	107.0					20																	34611575		2203	4300	6503	SO:0001583	missense	140894							g.chr20:34611575A>T	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1321A>T	20.37:g.34611575A>T	ENSP00000363084:p.Ile441Phe					CNBD2_ENST00000538900.1_Intron|CNBD2_ENST00000349339.1_Missense_Mutation_p.I437F	p.I441F							11	1494	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37	c.1321A>T		.	.	.	.	.	.	.	.	.	.	A	13.63	2.295123	0.40594	.	.	ENSG00000149646	ENST00000373973;ENST00000349339	T;T	0.47869	0.83;1.0	4.83	2.5	0.30297	.	0.356761	0.27060	N	0.021127	T	0.53417	0.1795	L	0.49126	1.545	0.80722	D	1	D	0.67145	0.996	P	0.61201	0.885	T	0.51379	-0.8713	10	0.72032	D	0.01	-8.3955	6.2862	0.21035	0.7732:0.0:0.2268:0.0	.	437	Q96M20-2	.	F	441;437	ENSP00000363084:I441F;ENSP00000340954:I437F	ENSP00000340954:I437F	I	+	1	0	C20orf152	34074989	0.989000	0.36119	0.527000	0.27925	0.018000	0.09664	1.676000	0.37565	0.383000	0.24910	0.533000	0.62120	ATC		0.458	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		13	108	0	0	0	1	0	13	108				
ATP2A2	488	broad.mit.edu	37	12	110783052	110783052	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:110783052A>G	ENST00000539276.2	+	18	2716		c.e18-1		ATP2A2_ENST00000395494.2_Splice_Site|ATP2A2_ENST00000308664.6_Splice_Site			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2						blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ATTTTCTTGCAGAGTCATTTC	0.483																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.e17-1		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							147.0	143.0	145.0					12																	110783052		2203	4300	6503	SO:0001630	splice_region_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110783052A>G		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2608-1A>G	12.37:g.110783052A>G						ATP2A2_ENST00000308664.6_Splice_Site|ATP2A2_ENST00000539276.2_Splice_Site				P16615	AT2A2_HUMAN			17	3089	+								A6NDN7|B4DF05|P16614|Q86VJ2	Splice_Site	SNP	ENST00000539276.2	37		CCDS9144.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.454690	0.84209	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276;ENST00000548169	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8917	0.79303	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP2A2	109267435	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.287000	0.95975	2.212000	0.71576	0.533000	0.62120	.		0.483	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681	Intron	51	200	0	0	0	1	0	51	200				
CEMIP	57214	broad.mit.edu	37	15	81201475	81201475	+	Missense_Mutation	SNP	C	C	T	rs200436734		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:81201475C>T	ENST00000394685.3	+	14	2044	c.1625C>T	c.(1624-1626)aCg>aTg	p.T542M	KIAA1199_ENST00000220244.3_Missense_Mutation_p.T542M|KIAA1199_ENST00000356249.5_Missense_Mutation_p.T542M|RP11-351M8.1_ENST00000560560.1_Intron|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		542	Necessary for its endoplasmic reticulum (ER) retention and interaction with HSPA5.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTGGAGGGCACGGAGCTGAAG	0.552													T|||	1	0.000199681	0.0	0.0014	5008	,	,		19589	0.0		0.0	False		,,,				2504	0.0					ENST00000394685.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1624-1626)aCg>aTg		KIAA1199							121.0	89.0	100.0					15																	81201475		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81201475C>T																												ENST00000394685.3:c.1625C>T	15.37:g.81201475C>T	ENSP00000378177:p.Thr542Met					RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.T542M|RP11-351M8.1_ENST00000560560.1_Intron|KIAA1199_ENST00000356249.5_Missense_Mutation_p.T542M	p.T542M			Q8WUJ3	K1199_HUMAN			14	2044	+			542					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.1625C>T	CCDS10315.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	10.26	1.302383	0.23736	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.80123	-1.34;-1.34;-1.34	5.09	5.09	0.68999	Pectin lyase fold/virulence factor (1);	0.291065	0.31177	N	0.008117	T	0.60945	0.2308	N	0.03608	-0.345	0.20307	N	0.999913	B	0.02656	0.0	B	0.01281	0.0	T	0.54043	-0.8352	10	0.54805	T	0.06	-9.3098	10.8753	0.46906	0.0:0.0747:0.0:0.9253	.	542	Q8WUJ3	K1199_HUMAN	M	542	ENSP00000220244:T542M;ENSP00000378177:T542M;ENSP00000348583:T542M	ENSP00000220244:T542M	T	+	2	0	KIAA1199	78988530	1.000000	0.71417	0.995000	0.50966	0.215000	0.24574	5.679000	0.68160	0.787000	0.33731	-0.516000	0.04426	ACG		0.552	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			10	46	0	0	0	1	0	10	46				
SIVA1	10572	broad.mit.edu	37	14	105222045	105222045	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:105222045A>G	ENST00000329967.6	+	2	299	c.197A>G	c.(196-198)cAc>cGc	p.H66R	SIVA1_ENST00000347067.5_Intron	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	66					activation-induced cell death of T cells (GO:0006924)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	CD27 receptor binding (GO:0005175)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		GCCGTCGTTCACCTGCCAGAG	0.627																																						ENST00000329967.6																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(196-198)cAc>cGc		SIVA1, apoptosis-inducing factor							68.0	67.0	68.0					14																	105222045		2203	4300	6503	SO:0001583	missense	10572				activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding	g.chr14:105222045A>G	U82938	CCDS9992.1, CCDS9993.1	14q32.33	2007-03-19							17712	protein-coding gene	gene with protein product		605567				9177220	Standard	NM_006427		Approved	SIVA, Siva-1, Siva-2, CD27BP	uc001yph.3	O15304		ENST00000329967.6:c.197A>G	14.37:g.105222045A>G	ENSP00000329213:p.His66Arg					SIVA1_ENST00000347067.5_Intron	p.H66R	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)	2	299	+		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	66					Q96P98|Q9UPD6	Missense_Mutation	SNP	ENST00000329967.6	37	c.197A>G	CCDS9992.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.639|9.639	1.138366|1.138366	0.21123|0.21123	.|.	.|.	ENSG00000184990|ENSG00000184990	ENST00000329967;ENST00000553810|ENST00000556195	.|.	.|.	.|.	5.03|5.03	2.55|2.55	0.30701|0.30701	.|.	0.894418|.	0.09590|.	N|.	0.781624|.	T|T	0.35682|0.35682	0.0940|0.0940	L|L	0.44542|0.44542	1.39|1.39	0.19300|0.19300	N|N	0.999978|0.999978	P;P;B|.	0.37176|.	0.586;0.586;0.058|.	B;B;B|.	0.37015|.	0.175;0.239;0.013|.	T|T	0.20273|0.20273	-1.0280|-1.0280	9|5	0.48119|.	T|.	0.1|.	-13.0958|-13.0958	4.5935|4.5935	0.12319|0.12319	0.7009:0.1976:0.1015:0.0|0.7009:0.1976:0.1015:0.0	.|.	66;66;66|.	B4DTY2;O15304;G3V3U1|.	.;SIVA_HUMAN;.|.	R|A	66|84	.|.	ENSP00000329213:H66R|.	H|T	+|+	2|1	0|0	SIVA1|SIVA1	104293090|104293090	0.006000|0.006000	0.16342|0.16342	0.047000|0.047000	0.18901|0.18901	0.929000|0.929000	0.56500|0.56500	0.933000|0.933000	0.28897|0.28897	1.889000|1.889000	0.54706|0.54706	0.460000|0.460000	0.39030|0.39030	CAC|ACC		0.627	SIVA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410541.1	NM_006427		27	70	0	0	0	1	0	27	70				
DUOXA1	90527	broad.mit.edu	37	15	45412817	45412817	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:45412817G>A	ENST00000560572.1	-	4	532	c.527C>T	c.(526-528)gCg>gTg	p.A176V	DUOXA1_ENST00000558422.1_Missense_Mutation_p.A131V|DUOXA1_ENST00000558996.1_Missense_Mutation_p.A131V|DUOXA1_ENST00000430224.2_Missense_Mutation_p.A131V|DUOXA1_ENST00000267803.4_Missense_Mutation_p.A176V|DUOXA1_ENST00000559014.1_Missense_Mutation_p.A176V	NM_001276266.1	NP_001263195.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	176					hydrogen peroxide metabolic process (GO:0042743)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		GTAGTGTCCCGCCAGGCGGTA	0.577																																						ENST00000558996.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(391-393)gCg>gTg		dual oxidase maturation factor 1							108.0	111.0	110.0					15																	45412817		2198	4298	6496	SO:0001583	missense	90527				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45412817G>A	BC029819	CCDS10119.1, CCDS61619.1, CCDS61620.1, CCDS61621.1	15q21.1	2006-11-29	2006-01-23	2006-07-25	ENSG00000140254	ENSG00000140254			26507	protein-coding gene	gene with protein product		612771				16651268	Standard	NM_144565		Approved	FLJ32334, NUMBIP, NIP, mol	uc010bec.4	Q1HG43	OTTHUMG00000131352	ENST00000560572.1:c.527C>T	15.37:g.45412817G>A	ENSP00000454084:p.Ala176Val					DUOXA1_ENST00000559014.1_Missense_Mutation_p.A176V|DUOXA1_ENST00000560572.1_Missense_Mutation_p.A176V|DUOXA1_ENST00000558422.1_Missense_Mutation_p.A131V|DUOXA1_ENST00000267803.4_Missense_Mutation_p.A176V|DUOXA1_ENST00000430224.2_Missense_Mutation_p.A131V	p.A131V	NM_001276267.1|NM_001276268.1	NP_001263196.1|NP_001263197.1	Q1HG43	DOXA1_HUMAN		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)	4	446	-		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	176					Q8N6K9|Q96MI4	Missense_Mutation	SNP	ENST00000560572.1	37	c.392C>T		.	.	.	.	.	.	.	.	.	.	G	19.60	3.858860	0.71834	.	.	ENSG00000140254	ENST00000267803;ENST00000430224	T;T	0.61392	0.11;0.11	5.3	5.3	0.74995	.	0.120022	0.64402	D	0.000020	T	0.78013	0.4217	M	0.82056	2.57	0.53688	D	0.999977	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.79784	0.983;0.985;0.989;0.993	T	0.80544	-0.1335	10	0.87932	D	0	-19.4054	18.1198	0.89567	0.0:0.0:1.0:0.0	.	131;131;176;176	B5M0C0;B5M0B8;Q1HG43;A8K9Q6	.;.;DOXA1_HUMAN;.	V	176;131	ENSP00000267803:A176V;ENSP00000415512:A131V	ENSP00000267803:A176V	A	-	2	0	DUOXA1	43200109	1.000000	0.71417	0.995000	0.50966	0.005000	0.04900	9.581000	0.98210	2.764000	0.94973	0.555000	0.69702	GCG		0.577	DUOXA1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000416242.1	NM_144565		59	98	0	0	0	1	0	59	98				
LRFN5	145581	broad.mit.edu	37	14	42357119	42357119	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:42357119G>A	ENST00000298119.4	+	3	2480	c.1291G>A	c.(1291-1293)Gca>Aca	p.A431T	LRFN5_ENST00000554120.1_Missense_Mutation_p.A431T|LRFN5_ENST00000554171.1_Missense_Mutation_p.A431T	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	431	Fibronectin type-III.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATCATCAACGGCACTACTTAA	0.353										HNSCC(30;0.082)																												ENST00000554171.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1291-1293)Gca>Aca		leucine rich repeat and fibronectin type III domain containing 5							60.0	57.0	58.0					14																	42357119		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42357119G>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1291G>A	14.37:g.42357119G>A	ENSP00000298119:p.Ala431Thr	HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Missense_Mutation_p.A431T|LRFN5_ENST00000298119.4_Missense_Mutation_p.A431T	p.A431T			Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	5	3723	+			431			Fibronectin type-III.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1291G>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447412	0.43429	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.69435	-0.4;0.56;0.56	5.4	5.4	0.78164	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000029	T	0.78317	0.4264	M	0.75085	2.285	0.50813	D	0.999895	P;B	0.44816	0.844;0.253	P;B	0.55749	0.783;0.126	T	0.75875	-0.3163	10	0.33940	T	0.23	.	17.0338	0.86468	0.0:0.0:1.0:0.0	.	431;431	G3V364;Q96NI6	.;LRFN5_HUMAN	T	431	ENSP00000298119:A431T;ENSP00000451897:A431T;ENSP00000451067:A431T	ENSP00000298119:A431T	A	+	1	0	LRFN5	41426869	1.000000	0.71417	0.967000	0.41034	0.924000	0.55760	9.813000	0.99286	2.680000	0.91292	0.563000	0.77884	GCA		0.353	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		18	41	0	0	0	1	0	18	41				
ANKMY2	57037	broad.mit.edu	37	7	16640449	16640449	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:16640449T>C	ENST00000306999.2	-	10	1506	c.1263A>G	c.(1261-1263)gaA>gaG	p.E421E		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	421						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAGCTTCGCTTTCAAGAGATT	0.488																																						ENST00000306999.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(1261-1263)gaA>gaG		ankyrin repeat and MYND domain containing 2							86.0	79.0	81.0					7																	16640449		2203	4300	6503	SO:0001819	synonymous_variant	57037					cilium	zinc ion binding	g.chr7:16640449T>C	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.1263A>G	7.37:g.16640449T>C							p.E421E	NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	10	1506	-	Lung NSC(10;0.103)|all_lung(11;0.204)		421					A4D124|Q659G1|Q96BL3	Silent	SNP	ENST00000306999.2	37	c.1263A>G	CCDS5361.1																																																																																				0.488	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		25	54	0	0	0	1	0	25	54				
WASL	8976	broad.mit.edu	37	7	123346845	123346845	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:123346845A>G	ENST00000223023.4	-	3	620	c.288T>C	c.(286-288)aaT>aaC	p.N96N		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	96	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATACAAAGTTATTGTATAGCT	0.289																																						ENST00000223023.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(286-288)aaT>aaC		Wiskott-Aldrich syndrome-like							46.0	51.0	49.0					7																	123346845		2199	4277	6476	SO:0001819	synonymous_variant	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123346845A>G	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.288T>C	7.37:g.123346845A>G							p.N96N	NM_003941.2	NP_003932.3	O00401	WASL_HUMAN			3	620	-			96			WH1.		A1JUI9|Q7Z746	Silent	SNP	ENST00000223023.4	37	c.288T>C	CCDS34743.1																																																																																				0.289	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		14	41	0	0	0	1	0	14	41				
NEUROG3	50674	broad.mit.edu	37	10	71332448	71332448	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:71332448T>C	ENST00000242462.4	-	2	381	c.352A>G	c.(352-354)Aag>Gag	p.K118E		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	118	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						TTGGTGAGCTTCGCGTCGTCT	0.627																																						ENST00000242462.4																			0				endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						c.(352-354)Aag>Gag		neurogenin 3							90.0	70.0	77.0					10																	71332448		2203	4300	6503	SO:0001583	missense	50674				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	g.chr10:71332448T>C	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.352A>G	10.37:g.71332448T>C	ENSP00000242462:p.Lys118Glu						p.K118E	NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN			2	381	-			118			Helix-loop-helix motif.		Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	ENST00000242462.4	37	c.352A>G	CCDS31212.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.708720	0.89018	.	.	ENSG00000122859	ENST00000242462	D	0.99214	-5.57	4.62	4.62	0.57501	Helix-loop-helix DNA-binding (5);	0.000000	0.42964	D	0.000632	D	0.99513	0.9826	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98251	1.0493	10	0.87932	D	0	-19.2766	12.9939	0.58635	0.0:0.0:0.0:1.0	.	118	Q9Y4Z2	NGN3_HUMAN	E	118	ENSP00000242462:K118E	ENSP00000242462:K118E	K	-	1	0	NEUROG3	71002454	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	4.769000	0.62300	1.909000	0.55274	0.533000	0.62120	AAG		0.627	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	NM_020999		19	63	0	0	0	1	0	19	63				
BTBD16	118663	broad.mit.edu	37	10	124094399	124094399	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:124094399A>G	ENST00000260723.4	+	14	1419	c.1168A>G	c.(1168-1170)Aat>Gat	p.N390D	BTBD16_ENST00000368994.2_Missense_Mutation_p.N391D|BTBD16_ENST00000495370.2_3'UTR	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	390										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AATTTAGGAGAATACAACTTA	0.383																																						ENST00000368994.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(1171-1173)Aat>Gat		BTB (POZ) domain containing 16							105.0	103.0	104.0					10																	124094399		2202	4300	6502	SO:0001583	missense	118663							g.chr10:124094399A>G	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.1168A>G	10.37:g.124094399A>G	ENSP00000260723:p.Asn390Asp					BTBD16_ENST00000260723.4_Missense_Mutation_p.N390D|BTBD16_ENST00000495370.2_3'UTR	p.N391D			Q32M84	BTBDG_HUMAN			14	1422	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	390					A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	c.1171A>G	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.568800	0.28003	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.17528	2.27;2.27	5.53	-6.87	0.01671	.	0.912155	0.09278	N	0.824120	T	0.05410	0.0143	N	0.08118	0	0.80722	D	1	P;P	0.36065	0.535;0.535	B;B	0.31495	0.131;0.131	T	0.38866	-0.9641	10	0.36615	T	0.2	-1.6032	4.8337	0.13454	0.4715:0.2977:0.0:0.2308	.	391;390	Q32M84-2;Q32M84	.;BTBDG_HUMAN	D	390;391	ENSP00000260723:N390D;ENSP00000357990:N391D	ENSP00000260723:N390D	N	+	1	0	BTBD16	124084389	0.011000	0.17503	0.005000	0.12908	0.073000	0.16967	-0.012000	0.12699	-0.822000	0.04306	-1.293000	0.01348	AAT		0.383	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		4	87	0	0	0	1	0	4	87				
MKRN1	23608	broad.mit.edu	37	7	140171758	140171758	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:140171758T>C	ENST00000255977.2	-	2	463	c.239A>G	c.(238-240)gAc>gGc	p.D80G	MKRN1_ENST00000481705.1_5'UTR|MKRN1_ENST00000474576.1_Missense_Mutation_p.D16G|MKRN1_ENST00000443720.2_Missense_Mutation_p.D80G|MKRN1_ENST00000437223.2_5'UTR|MKRN1_ENST00000480552.1_Missense_Mutation_p.D16G	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	80					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GTCAGAGAGGTCATGCGAGTA	0.408																																						ENST00000255977.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(238-240)gAc>gGc		makorin ring finger protein 1							86.0	80.0	82.0					7																	140171758		2203	4300	6503	SO:0001583	missense	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140171758T>C	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.239A>G	7.37:g.140171758T>C	ENSP00000255977:p.Asp80Gly					MKRN1_ENST00000437223.2_5'UTR|MKRN1_ENST00000443720.2_Missense_Mutation_p.D80G|MKRN1_ENST00000480552.1_Missense_Mutation_p.D16G|MKRN1_ENST00000481705.1_5'UTR|MKRN1_ENST00000474576.1_Missense_Mutation_p.D16G	p.D80G	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN			2	463	-	Melanoma(164;0.00956)		80					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	c.239A>G	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.070474	0.76301	.	.	ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000474576;ENST00000480552;ENST00000443720;ENST00000471104;ENST00000467513;ENST00000494939;ENST00000473444;ENST00000481705	T;T;T;T;T;T;T	0.44881	1.3;2.04;1.3;1.71;1.67;1.65;0.91	5.88	5.88	0.94601	Zinc finger, CCCH-type (3);	0.051875	0.85682	D	0.000000	T	0.67031	0.2850	H	0.95224	3.64	0.80722	D	1	P	0.44044	0.825	P	0.48770	0.589	T	0.76977	-0.2759	10	0.62326	D	0.03	.	15.9623	0.79939	0.0:0.0:0.0:1.0	.	80	Q9UHC7	MKRN1_HUMAN	G	80;16;16;16;80;16;16;16;31;80	ENSP00000255977:D80G;ENSP00000417863:D16G;ENSP00000416369:D80G;ENSP00000418864:D16G;ENSP00000418588:D16G;ENSP00000419843:D16G;ENSP00000418620:D31G	ENSP00000255977:D80G	D	-	2	0	MKRN1	139818227	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.583000	0.82559	2.246000	0.74042	0.533000	0.62120	GAC		0.408	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		23	80	0	0	0	1	0	23	80				
KIAA1217	56243	broad.mit.edu	37	10	24722076	24722076	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:24722076A>G	ENST00000376454.3	+	4	736	c.706A>G	c.(706-708)Atc>Gtc	p.I236V	KIAA1217_ENST00000430453.2_Missense_Mutation_p.I157V|KIAA1217_ENST00000376462.1_Missense_Mutation_p.I156V|KIAA1217_ENST00000376452.3_Missense_Mutation_p.I236V|KIAA1217_ENST00000458595.1_Missense_Mutation_p.I236V	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	236					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CGCCATTTACATCAAAGATGA	0.393																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(706-708)Atc>Gtc		KIAA1217							100.0	91.0	94.0					10																	24722076		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24722076A>G	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.706A>G	10.37:g.24722076A>G	ENSP00000365637:p.Ile236Val					KIAA1217_ENST00000458595.1_Missense_Mutation_p.I236V|KIAA1217_ENST00000376452.3_Missense_Mutation_p.I236V|KIAA1217_ENST00000430453.2_Missense_Mutation_p.I157V|KIAA1217_ENST00000376462.1_Missense_Mutation_p.I156V	p.I236V	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			4	736	+			236					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.706A>G	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.667268	0.67814	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.77	5.77	0.91146	.	0.049738	0.85682	D	0.000000	T	0.60248	0.2254	L	0.55834	1.745	0.48395	D	0.99964	D;P;P;P	0.63880	0.993;0.694;0.948;0.537	D;P;D;B	0.74674	0.984;0.487;0.949;0.203	T	0.59931	-0.7361	10	0.49607	T	0.09	.	16.0992	0.81158	1.0:0.0:0.0:0.0	.	236;236;236;236	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	V	156;236;236;236;236;86;157	ENSP00000365645:I156V;ENSP00000365639:I236V;ENSP00000392625:I236V;ENSP00000365637:I236V;ENSP00000365635:I236V;ENSP00000404798:I86V;ENSP00000389680:I157V	ENSP00000365635:I236V	I	+	1	0	KIAA1217	24762082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.763000	0.68818	2.201000	0.70794	0.523000	0.50628	ATC		0.393	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		24	53	0	0	0	1	0	24	53				
POTEA	340441	broad.mit.edu	37	8	43157155	43157155	+	RNA	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:43157155T>C	ENST00000522175.2	+	0	697				RNU6-104P_ENST00000459597.1_RNA			Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATCAGCAAGTATAGTTAGTC	0.328																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A							99.0	107.0	105.0					8																	43157155		2149	4272	6421			340441							g.chr8:43157155T>C	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43157155T>C										Q6S8J7	POTEA_HUMAN			0	697	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.328	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		6	88	0	0	0	1	0	6	88				
RBM46	166863	broad.mit.edu	37	4	155720164	155720164	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:155720164G>A	ENST00000281722.3	+	4	1085	c.850G>A	c.(850-852)Gca>Aca	p.A284T	RBM46_ENST00000514866.1_Missense_Mutation_p.A284T|RBM46_ENST00000510397.1_Missense_Mutation_p.A284T	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	284	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CCGAGAAGATGCAGTGGCTGC	0.363																																						ENST00000510397.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26						c.(850-852)Gca>Aca		RNA binding motif protein 46							89.0	81.0	83.0					4																	155720164		2203	4300	6503	SO:0001583	missense	166863						nucleotide binding|RNA binding	g.chr4:155720164G>A	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.850G>A	4.37:g.155720164G>A	ENSP00000281722:p.Ala284Thr					RBM46_ENST00000281722.3_Missense_Mutation_p.A284T|RBM46_ENST00000514866.1_Missense_Mutation_p.A284T	p.A284T	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN			4	1029	+	all_hematologic(180;0.24)	Renal(120;0.0854)	284			RRM 3.		B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	c.850G>A	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009681	0.75046	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	D;D;D	0.84442	-1.85;-1.85;-1.85	5.97	5.13	0.70059	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.93536	0.7937	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.94729	0.7908	10	0.87932	D	0	-19.6776	16.6367	0.85060	0.0:0.0:0.8689:0.1311	.	284;284;284	B4DZ27;B3KWU8;Q8TBY0	.;.;RBM46_HUMAN	T	284	ENSP00000424500:A284T;ENSP00000281722:A284T;ENSP00000422813:A284T	ENSP00000281722:A284T	A	+	1	0	RBM46	155939614	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.780000	0.68956	1.523000	0.49018	0.655000	0.94253	GCA		0.363	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1	NM_144979		12	55	0	0	0	1	0	12	55				
TMEM259	91304	broad.mit.edu	37	19	1012124	1012124	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1012124C>A	ENST00000356663.3	-	5	903	c.782G>T	c.(781-783)gGc>gTc	p.G261V	TMEM259_ENST00000333175.5_Missense_Mutation_p.G261V	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	261						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GTCATCGTAGCCCAGGAACTC	0.692																																						ENST00000356663.3																			0											c.(781-783)gGc>gTc		transmembrane protein 259							34.0	28.0	30.0					19																	1012124		2198	4298	6496	SO:0001583	missense	91304							g.chr19:1012124C>A	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"""membralin"", ""aspecific BCL2 ARE-binding protein 1"""	611011	"""chromosome 19 open reading frame 6"""	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.782G>T	19.37:g.1012124C>A	ENSP00000349087:p.Gly261Val					TMEM259_ENST00000333175.5_Missense_Mutation_p.G261V	p.G261V	NM_001033026.1	NP_001028198.1					5	903	-								O60392|Q8NF79|Q96H30	Missense_Mutation	SNP	ENST00000356663.3	37	c.782G>T	CCDS32862.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452333	0.84209	.	.	ENSG00000182087	ENST00000356663;ENST00000333175	.	.	.	3.99	3.99	0.46301	.	0.121540	0.56097	D	0.000038	T	0.80042	0.4551	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84173	0.0435	9	0.87932	D	0	-1.87	15.2175	0.73281	0.0:1.0:0.0:0.0	.	261;261	Q4ZIN3-2;Q4ZIN3	.;MBRL_HUMAN	V	261	.	ENSP00000331423:G261V	G	-	2	0	C19orf6	963124	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.099000	0.76981	2.056000	0.61249	0.407000	0.27541	GGC		0.692	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		6	18	1	0	0.0215528	1	0.0216729	6	18				
IRF2BPL	64207	broad.mit.edu	37	14	77494128	77494128	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:77494128G>A	ENST00000238647.3	-	1	906	c.8C>T	c.(7-9)gCg>gTg	p.A3V		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	3					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CACCTGCGCCGCCGACATGAT	0.697																																						ENST00000238647.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(7-9)gCg>gTg		interferon regulatory factor 2 binding protein-like							17.0	20.0	19.0					14																	77494128		2186	4293	6479	SO:0001583	missense	64207					nucleus		g.chr14:77494128G>A	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.8C>T	14.37:g.77494128G>A	ENSP00000238647:p.Ala3Val						p.A3V	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	906	-			3					Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	ENST00000238647.3	37	c.8C>T	CCDS9854.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451184	0.63290	.	.	ENSG00000119669	ENST00000238647	T	0.66460	-0.21	4.08	3.16	0.36331	.	0.177105	0.36303	U	0.002673	T	0.39809	0.1092	N	0.04508	-0.205	0.44728	D	0.997725	P	0.36438	0.553	B	0.25291	0.059	T	0.45086	-0.9285	10	0.52906	T	0.07	-1.76	13.518	0.61551	0.0:0.1579:0.8421:0.0	.	3	Q9H1B7	I2BPL_HUMAN	V	3	ENSP00000238647:A3V	ENSP00000238647:A3V	A	-	2	0	IRF2BPL	76563881	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.893000	0.75649	0.882000	0.36016	0.313000	0.20887	GCG		0.697	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		15	22	0	0	0	1	0	15	22				
PCYT2	5833	broad.mit.edu	37	17	79862964	79862964	+	Missense_Mutation	SNP	C	C	T	rs142625466		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:79862964C>T	ENST00000538936.2	-	12	1144	c.1036G>A	c.(1036-1038)Gtc>Atc	p.V346I	PCYT2_ENST00000331285.3_Missense_Mutation_p.V268I|PCYT2_ENST00000570388.1_Missense_Mutation_p.V268I|PCYT2_ENST00000570391.1_Missense_Mutation_p.V314I|PCYT2_ENST00000538721.2_Missense_Mutation_p.V364I|PCYT2_ENST00000571105.1_Missense_Mutation_p.V324I	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	346					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	ATCCGCTGGACGATGAGGTCT	0.632																																						ENST00000538936.2																			0				breast(2)|endometrium(1)|lung(4)|ovary(1)	8						c.(1036-1038)Gtc>Atc		phosphate cytidylyltransferase 2, ethanolamine		C	ILE/VAL,ILE/VAL	0,4402		0,0,2201	70.0	61.0	64.0		1090,1036	3.7	0.8	17	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PCYT2	NM_001184917.1,NM_002861.3	29,29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	364/408,346/390	79862964	1,13001	2201	4300	6501	SO:0001583	missense	5833				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity	g.chr17:79862964C>T	D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.1036G>A	17.37:g.79862964C>T	ENSP00000439245:p.Val346Ile					PCYT2_ENST00000571105.1_Missense_Mutation_p.V324I|PCYT2_ENST00000570388.1_Missense_Mutation_p.V268I|PCYT2_ENST00000570391.1_Missense_Mutation_p.V314I|PCYT2_ENST00000331285.3_Missense_Mutation_p.V268I|PCYT2_ENST00000538721.2_Missense_Mutation_p.V364I	p.V346I	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		12	1144	-	all_neural(118;0.0878)|Ovarian(332;0.12)		346			Catalytic 2 (Potential).		B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Missense_Mutation	SNP	ENST00000538936.2	37	c.1036G>A	CCDS11791.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077862	0.36662	0.0	1.16E-4	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	.	.	.	4.7	3.73	0.42828	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.059597	0.64402	D	0.000003	T	0.26991	0.0661	N	0.20766	0.605	0.58432	D	0.999999	P;P;P;P;P	0.48350	0.507;0.507;0.909;0.507;0.74	B;B;B;B;B	0.38194	0.089;0.089;0.267;0.089;0.137	T	0.06023	-1.0850	9	0.08837	T	0.75	-39.1194	12.5244	0.56077	0.0:0.9193:0.0:0.0807	.	314;314;364;268;346	B7Z4W6;B7ZAS0;F5H8B1;B7Z7A5;Q99447	.;.;.;.;PCY2_HUMAN	I	364;346;268	.	ENSP00000331719:V268I	V	-	1	0	PCYT2	77456256	1.000000	0.71417	0.822000	0.32727	0.031000	0.12232	5.508000	0.67006	1.192000	0.43071	0.462000	0.41574	GTC		0.632	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1	NM_002861		9	21	0	0	0	1	0	9	21				
LENG8	114823	broad.mit.edu	37	19	54965653	54965653	+	Silent	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54965653C>A	ENST00000326764.5	+	6	950	c.471C>A	c.(469-471)ccC>ccA	p.P157P	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	120										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		ACCAGGCTCCCCCTCAGCAGC	0.667																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(469-471)ccC>ccA		leukocyte receptor cluster (LRC) member 8							34.0	38.0	36.0					19																	54965653		2203	4300	6503	SO:0001819	synonymous_variant	114823						protein binding	g.chr19:54965653C>A	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.471C>A	19.37:g.54965653C>A						LENG8_ENST00000376514.2_Intron	p.P157P	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	6	950	+	Ovarian(34;0.19)		120					B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	ENST00000326764.5	37	c.471C>A	CCDS12894.1																																																																																				0.667	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		22	53	1	0	2.79863e-10	1	2.90221e-10	22	53				
KIFC1	3833	broad.mit.edu	37	6	33371120	33371120	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:33371120C>T	ENST00000428849.2	+	4	730	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	94					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GACAGGACCCCGGTGTTCCAC	0.493																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(280-282)Cgg>Tgg		kinesin family member C1							98.0	103.0	101.0					6																	33371120		2203	4300	6503	SO:0001583	missense	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33371120C>T	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.280C>T	6.37:g.33371120C>T	ENSP00000393963:p.Arg94Trp					KIFC1_ENST00000486695.1_3'UTR	p.R94W	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN			4	730	+			94					O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.280C>T	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190131	0.58017	.	.	ENSG00000237649	ENST00000428849;ENST00000450504	T	0.74421	-0.84	5.11	2.11	0.27256	.	0.245257	0.31897	N	0.006900	T	0.35219	0.0924	N	0.20986	0.625	0.22185	N	0.999306	B;B	0.15719	0.014;0.014	B;B	0.06405	0.002;0.002	T	0.26815	-1.0092	10	0.59425	D	0.04	-0.332	4.2373	0.10632	0.0:0.5955:0.1917:0.2128	.	94;94	B4E063;Q9BW19	.;KIFC1_HUMAN	W	94;135	ENSP00000393963:R94W	ENSP00000393963:R94W	R	+	1	2	KIFC1	33479098	0.002000	0.14202	0.648000	0.29521	0.985000	0.73830	0.385000	0.20685	0.724000	0.32296	0.563000	0.77884	CGG		0.493	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		37	107	0	0	0	1	0	37	107				
FERD3L	222894	broad.mit.edu	37	7	19184834	19184834	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:19184834G>A	ENST00000275461.3	-	1	210	c.152C>T	c.(151-153)cCc>cTc	p.P51L	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	51					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CATCCTCCTGGGTCTTCCCTC	0.662																																						ENST00000275461.3																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						c.(151-153)cCc>cTc		Fer3-like bHLH transcription factor							57.0	42.0	47.0					7																	19184834		2203	4300	6503	SO:0001583	missense	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184834G>A	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.152C>T	7.37:g.19184834G>A	ENSP00000275461:p.Pro51Leu					AC003986.5_ENST00000452700.1_RNA	p.P51L	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN			1	210	-			51					Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	c.152C>T	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	G	9.650	1.141252	0.21205	.	.	ENSG00000146618	ENST00000275461	D	0.96200	-3.94	5.27	4.39	0.52855	.	1.610080	0.03155	N	0.168438	D	0.90480	0.7018	N	0.14661	0.345	0.09310	N	0.999999	B	0.16396	0.017	B	0.12837	0.008	T	0.79729	-0.1681	10	0.18710	T	0.47	-1.8314	8.8155	0.34993	0.0797:0.1621:0.7581:0.0	.	51	Q96RJ6	FER3L_HUMAN	L	51	ENSP00000275461:P51L	ENSP00000275461:P51L	P	-	2	0	FERD3L	19151359	0.237000	0.23815	0.108000	0.21378	0.526000	0.34562	2.494000	0.45329	1.345000	0.45676	0.650000	0.86243	CCC		0.662	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			16	46	0	0	0	1	0	16	46				
ALG6	29929	broad.mit.edu	37	1	63836712	63836712	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:63836712T>C	ENST00000371108.4	+	2	369	c.64T>C	c.(64-66)Tct>Cct	p.S22P	ALG6_ENST00000263440.4_Missense_Mutation_p.S22P	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	22					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATGGACAGTGTCTCTTAATTC	0.333																																						ENST00000371108.4																			0				endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(64-66)Tct>Cct		ALG6, alpha-1,3-glucosyltransferase							176.0	177.0	176.0					1																	63836712		2203	4300	6503	SO:0001583	missense	29929				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr1:63836712T>C	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.64T>C	1.37:g.63836712T>C	ENSP00000360149:p.Ser22Pro					ALG6_ENST00000263440.4_Missense_Mutation_p.S22P	p.S22P	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN			2	369	+			22					B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	ENST00000371108.4	37	c.64T>C	CCDS30735.1	.	.	.	.	.	.	.	.	.	.	T	19.91	3.913798	0.72983	.	.	ENSG00000088035	ENST00000371108;ENST00000263440	D;D	0.86432	-2.12;-2.12	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.93318	0.7870	M	0.91300	3.195	0.80722	D	1	D	0.63880	0.993	D	0.72075	0.976	D	0.94345	0.7574	10	0.62326	D	0.03	-15.6793	12.2725	0.54714	0.0:0.0:0.0:1.0	.	22	A2A2G4	.	P	22	ENSP00000360149:S22P;ENSP00000263440:S22P	ENSP00000263440:S22P	S	+	1	0	ALG6	63609300	0.997000	0.39634	0.997000	0.53966	0.936000	0.57629	4.126000	0.57937	2.151000	0.67156	0.533000	0.62120	TCT		0.333	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		36	87	0	0	0	1	0	36	87				
SCAP	22937	broad.mit.edu	37	3	47456400	47456400	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:47456400G>A	ENST00000265565.5	-	20	3635	c.3223C>T	c.(3223-3225)Ccc>Tcc	p.P1075S	SCAP_ENST00000441517.2_Missense_Mutation_p.P819S|SCAP_ENST00000545718.1_Missense_Mutation_p.P682S	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1075	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGTGCACAGGGCACTGTGTGG	0.602																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(3223-3225)Ccc>Tcc		SREBF chaperone							55.0	61.0	59.0					3																	47456400		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47456400G>A	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3223C>T	3.37:g.47456400G>A	ENSP00000265565:p.Pro1075Ser					SCAP_ENST00000545718.1_Missense_Mutation_p.P682S|SCAP_ENST00000441517.2_Missense_Mutation_p.P819S	p.P1075S	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	20	3635	-			1075			Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.3223C>T	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954178	0.34471	.	.	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.59083	0.29;0.29;0.29	5.4	3.45	0.39498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.247806	0.42821	D	0.000651	T	0.33030	0.0849	N	0.22421	0.69	0.32289	N	0.56651	B;B	0.17038	0.004;0.02	B;B	0.17433	0.007;0.018	T	0.20273	-1.0280	10	0.10377	T	0.69	-32.7862	2.652	0.05002	0.1125:0.3413:0.3695:0.1766	.	819;1075	F8W921;Q12770	.;SCAP_HUMAN	S	567;701;1075;819;682	ENSP00000265565:P1075S;ENSP00000416847:P819S;ENSP00000438956:P682S	ENSP00000265565:P1075S	P	-	1	0	SCAP	47431404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.376000	0.34306	1.488000	0.48433	0.655000	0.94253	CCC		0.602	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		28	84	0	0	0	1	0	28	84				
CDCA2	157313	broad.mit.edu	37	8	25325857	25325857	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:25325857A>G	ENST00000330560.3	+	6	1140	c.663A>G	c.(661-663)gtA>gtG	p.V221V	CDCA2_ENST00000380665.3_Silent_p.V206V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	221					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AAGGAAAAGTAATTGGTCTCC	0.423																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(661-663)gtA>gtG		cell division cycle associated 2							116.0	119.0	118.0					8																	25325857		2203	4300	6503	SO:0001819	synonymous_variant	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25325857A>G	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.663A>G	8.37:g.25325857A>G						CDCA2_ENST00000380665.3_Silent_p.V206V	p.V221V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	6	1140	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	221					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Silent	SNP	ENST00000330560.3	37	c.663A>G	CCDS6049.1																																																																																				0.423	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		41	91	0	0	0	1	0	41	91				
H2AFY	9555	broad.mit.edu	37	5	134679129	134679129	+	Intron	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:134679129T>C	ENST00000511689.1	-	8	1372				H2AFY_ENST00000312469.4_Intron|CTC-349C3.1_ENST00000432382.3_Silent_p.S137S|H2AFY_ENST00000304332.4_Intron|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000510038.1_Intron|H2AFY_ENST00000512507.1_Intron	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y						chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGCAGCTAGTGGTGCGGGGA	0.532																																						ENST00000432382.3																			0											c.(409-411)agT>agC									69.0	67.0	67.0					5																	134679129		2203	4300	6503	SO:0001627	intron_variant	100996485							g.chr5:134679129T>C	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.779-5A>G	5.37:g.134679129T>C						CTC-203F4.1_ENST00000555438.1_Intron|H2AFY_ENST00000511689.1_Intron|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000512507.1_Intron|H2AFY_ENST00000510038.1_Intron|H2AFY_ENST00000304332.4_Intron|H2AFY_ENST00000312469.4_Intron	p.S137S	NM_001277348.1	NP_001264277.1					6	1233	+								O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Silent	SNP	ENST00000511689.1	37	c.411T>C	CCDS4185.1																																																																																				0.532	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893		8	169	0	0	0	1	0	8	169				
ZBTB47	92999	broad.mit.edu	37	3	42703044	42703044	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:42703044G>A	ENST00000232974.6	+	3	1822	c.1541G>A	c.(1540-1542)gGc>gAc	p.G514D	ZBTB47_ENST00000505904.1_Missense_Mutation_p.G60D|ZBTB47_ENST00000457842.3_Missense_Mutation_p.G138D			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		ATTGTGCACGGCTACGCAGAG	0.517																																						ENST00000457842.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13						c.(412-414)gGc>gAc		zinc finger and BTB domain containing 47							78.0	77.0	78.0					3																	42703044		1984	4176	6160	SO:0001583	missense	92999				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42703044G>A	AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26955	protein-coding gene	gene with protein product			"""zinc finger protein 651"""	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1541G>A	3.37:g.42703044G>A	ENSP00000232974:p.Gly514Asp					ZBTB47_ENST00000232974.6_Missense_Mutation_p.G514D|ZBTB47_ENST00000505904.1_Missense_Mutation_p.G60D	p.G138D	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.216)	3	1822	+			138					H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Missense_Mutation	SNP	ENST00000232974.6	37	c.413G>A	CCDS46805.2	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733236	0.69189	.	.	ENSG00000114853	ENST00000232974;ENST00000542870;ENST00000457842;ENST00000505904	T;T;T	0.35048	1.33;1.33;1.33	4.95	4.95	0.65309	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.59032	0.2164	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.64563	-0.6378	10	0.87932	D	0	-34.9499	18.1798	0.89773	0.0:0.0:1.0:0.0	.	138	Q9UFB7	ZBT47_HUMAN	D	514;413;138;60	ENSP00000232974:G514D;ENSP00000411491:G138D;ENSP00000420968:G60D	ENSP00000232974:G514D	G	+	2	0	ZBTB47	42678048	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	9.790000	0.99075	2.302000	0.77476	0.561000	0.74099	GGC		0.517	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343485.3	NM_145166		17	58	0	0	0	1	0	17	58				
B4GALNT2	124872	broad.mit.edu	37	17	47243541	47243541	+	Silent	SNP	C	C	T	rs142560351		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:47243541C>T	ENST00000300404.2	+	9	1259	c.1200C>T	c.(1198-1200)gaC>gaT	p.D400D	B4GALNT2_ENST00000393354.2_Silent_p.D340D|B4GALNT2_ENST00000504681.1_Silent_p.D314D	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	400					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TCTGGGTGGACGATGATTTTC	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		17254	0.0		0.001	False		,,,				2504	0.0				GBM(124;244 1635 8663 18097 33175)	ENST00000300404.2																			0				endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1198-1200)gaC>gaT		beta-1,4-N-acetyl-galactosaminyl transferase 2		C	,,	1,4405	2.1+/-5.4	0,1,2202	129.0	107.0	115.0		1020,942,1200	-3.9	1.0	17	dbSNP_134	115	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	B4GALNT2	NM_001159387.1,NM_001159388.1,NM_153446.2	,,	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	,,	340/507,314/481,400/567	47243541	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47243541C>T	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1200C>T	17.37:g.47243541C>T						B4GALNT2_ENST00000393354.2_Silent_p.D340D|B4GALNT2_ENST00000504681.1_Silent_p.D314D	p.D400D	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		9	1259	+			400					B4DZE4|Q14CP1|Q86Y40	Silent	SNP	ENST00000300404.2	37	c.1200C>T	CCDS11544.1																																																																																				0.498	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		21	60	0	0	0	1	0	21	60				
TTN	7273	broad.mit.edu	37	2	179604505	179604505	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179604505T>C	ENST00000591111.1	-	46	12728	c.12504A>G	c.(12502-12504)atA>atG	p.I4168M	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I4485M|TTN_ENST00000359218.5_Missense_Mutation_p.I4247M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I4314M|TTN_ENST00000460472.2_Missense_Mutation_p.I4122M|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					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)			TTAGGATGTCTATTTCCTCAT	0.388																																						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.(13453-13455)atA>atG		titin							184.0	182.0	182.0					2																	179604505		1870	4104	5974	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604505T>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.12504A>G	2.37:g.179604505T>C	ENSP00000465570:p.Ile4168Met					TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I4122M|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.I4168M|TTN_ENST00000359218.5_Missense_Mutation_p.I4247M|TTN_ENST00000342175.6_Missense_Mutation_p.I4314M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA	p.I4485M	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)		48	13679	-			4168			Ig-like 25.		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.13455A>G		.	.	.	.	.	.	.	.	.	.	T	0.720	-0.783905	0.02907	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.60797	0.21;0.17;0.16	5.56	3.23	0.37069	.	.	.	.	.	T	0.40398	0.1115	N	0.16478	0.41	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.33879	-0.9851	9	0.87932	D	0	.	8.3443	0.32263	0.0:0.3125:0.0:0.6875	.	4122;4247;4314	D3DPF9;E7EQE6;E7ET18	.;.;.	M	4122;4314;4247;4122	ENSP00000434586:I4122M;ENSP00000340554:I4314M;ENSP00000352154:I4247M	ENSP00000340554:I4314M	I	-	3	3	TTN	179312750	0.186000	0.23225	0.920000	0.36463	0.042000	0.13812	0.263000	0.18478	0.433000	0.26313	0.533000	0.62120	ATA		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		62	218	0	0	0	1	0	62	218				
DLG1	1739	broad.mit.edu	37	3	196792280	196792280	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:196792280C>G	ENST00000419354.1	-	23	2559	c.2273G>C	c.(2272-2274)aGa>aCa	p.R758T	DLG1_ENST00000392382.2_Missense_Mutation_p.R725T|DLG1_ENST00000346964.2_Missense_Mutation_p.R780T|DLG1_ENST00000314062.3_Missense_Mutation_p.R707T|DLG1_ENST00000452595.1_Missense_Mutation_p.R642T|DLG1_ENST00000357674.4_Missense_Mutation_p.R747T|DLG1_ENST00000450955.1_Missense_Mutation_p.R747T|DLG1_ENST00000443183.1_Missense_Mutation_p.R654T|DLG1_ENST00000448528.2_Missense_Mutation_p.R758T|DLG1_ENST00000422288.1_Missense_Mutation_p.R707T			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	758	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ATGATAATCTCTTCCATCTAC	0.313																																						ENST00000346964.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(2338-2340)aGa>aCa		discs, large homolog 1 (Drosophila)							166.0	165.0	165.0					3																	196792280		2202	4300	6502	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196792280C>G	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.2273G>C	3.37:g.196792280C>G	ENSP00000407531:p.Arg758Thr					DLG1_ENST00000314062.3_Missense_Mutation_p.R707T|DLG1_ENST00000448528.2_Missense_Mutation_p.R758T|DLG1_ENST00000452595.1_Missense_Mutation_p.R642T|DLG1_ENST00000450955.1_Missense_Mutation_p.R747T|DLG1_ENST00000419354.1_Missense_Mutation_p.R758T|DLG1_ENST00000422288.1_Missense_Mutation_p.R707T|DLG1_ENST00000443183.1_Missense_Mutation_p.R654T|DLG1_ENST00000392382.2_Missense_Mutation_p.R725T|DLG1_ENST00000357674.4_Missense_Mutation_p.R747T	p.R780T	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	23	2528	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	758			Guanylate kinase-like.		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.2339G>C	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415087	0.83449	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	T;T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.32	5.32	0.75619	Guanylate kinase/L-type calcium channel (1);Guanylate kinase, conserved site (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.67202	0.2868	M	0.78285	2.405	0.80722	D	1	D;D;D;D;D	0.89917	0.995;0.999;1.0;0.998;1.0	D;D;D;D;D	0.91635	0.935;0.969;0.999;0.985;0.999	T	0.71087	-0.4694	10	0.72032	D	0.01	.	17.9766	0.89129	0.0:1.0:0.0:0.0	.	747;642;654;758;780	Q12959-4;E9PG21;E7EWL7;Q12959;Q12959-2	.;.;.;DLG1_HUMAN;.	T	780;771;747;745;707;758;642;707;758;654;725;747	ENSP00000345731:R780T;ENSP00000350303:R747T;ENSP00000321087:R707T;ENSP00000407531:R758T;ENSP00000398939:R642T;ENSP00000413238:R707T;ENSP00000391732:R758T;ENSP00000396658:R654T;ENSP00000376187:R725T;ENSP00000411278:R747T	ENSP00000321087:R707T	R	-	2	0	DLG1	198276677	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.692000	0.61746	2.497000	0.84241	0.467000	0.42956	AGA		0.313	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		29	60	0	0	0	1	0	29	60				
AATF	26574	broad.mit.edu	37	17	35388942	35388942	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:35388942A>G	ENST00000225402.5	+	11	1830	c.1579A>G	c.(1579-1581)Atg>Gtg	p.M527V	MIR2909_ENST00000581942.1_RNA	NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	527					apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				ACTGAGTTTCATGGCACCTAT	0.398																																					NSCLC(49;901 1159 19183 41572 46244)	ENST00000225402.5																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18						c.(1579-1581)Atg>Gtg		apoptosis antagonizing transcription factor							229.0	193.0	205.0					17																	35388942		2203	4300	6503	SO:0001583	missense	26574				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	g.chr17:35388942A>G	AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.1579A>G	17.37:g.35388942A>G	ENSP00000225402:p.Met527Val						p.M527V	NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN			11	1830	+		Breast(25;0.00607)	527					A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Missense_Mutation	SNP	ENST00000225402.5	37	c.1579A>G	CCDS32632.1	.	.	.	.	.	.	.	.	.	.	A	19.59	3.857015	0.71834	.	.	ENSG00000108270	ENST00000225402	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.84083	0.5394	M	0.87097	2.86	0.58432	D	0.999998	D	0.71674	0.998	D	0.79108	0.992	D	0.86535	0.1824	9	0.62326	D	0.03	-16.7309	16.27	0.82612	1.0:0.0:0.0:0.0	.	527	Q9NY61	AATF_HUMAN	V	527	.	ENSP00000225402:M527V	M	+	1	0	AATF	32463055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.529000	0.81952	2.248000	0.74166	0.533000	0.62120	ATG		0.398	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451543.1	NM_012138		36	111	0	0	0	1	0	36	111				
CADM3	57863	broad.mit.edu	37	1	159162460	159162460	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:159162460T>C	ENST00000368125.4	+	3	479	c.322T>C	c.(322-324)Tac>Cac	p.Y108H	CADM3_ENST00000368124.4_Missense_Mutation_p.Y142H	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	108	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CGAGGGCGAGTACACCTGCTC	0.557																																						ENST00000368125.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(322-324)Tac>Cac		cell adhesion molecule 3							197.0	151.0	167.0					1																	159162460		2203	4300	6503	SO:0001583	missense	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159162460T>C	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.322T>C	1.37:g.159162460T>C	ENSP00000357107:p.Tyr108His					CADM3_ENST00000368124.4_Missense_Mutation_p.Y142H	p.Y108H	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			3	479	+	all_hematologic(112;0.0429)		108			Ig-like V-type.		Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	c.322T>C	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.531018	0.85706	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	D;D;D	0.94537	-3.45;-3.45;-3.45	5.09	5.09	0.68999	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.97451	0.9166	M	0.92412	3.305	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.98362	1.0549	10	0.87932	D	0	.	12.886	0.58045	0.0:0.0:0.0:1.0	.	108;108;142	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	H	142;108;108	ENSP00000357106:Y142H;ENSP00000357107:Y108H;ENSP00000387802:Y108H	ENSP00000357106:Y142H	Y	+	1	0	CADM3	157429084	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.374000	0.79633	2.133000	0.65898	0.455000	0.32223	TAC		0.557	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		37	104	0	0	0	1	0	37	104				
SECISBP2L	9728	broad.mit.edu	37	15	49327791	49327791	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:49327791A>G	ENST00000559471.1	-	3	531	c.268T>C	c.(268-270)Tac>Cac	p.Y90H	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.Y90H	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	90							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TAGGCAAAGTATGGTCCAGTA	0.403																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(268-270)Tac>Cac		SECIS binding protein 2-like							112.0	114.0	113.0					15																	49327791		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49327791A>G	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.268T>C	15.37:g.49327791A>G	ENSP00000453854:p.Tyr90His					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.Y90H	p.Y90H	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			3	531	-			90					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.268T>C	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514707	0.85389	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.85861	-2.04	5.57	5.57	0.84162	.	0.058409	0.64402	D	0.000001	D	0.88610	0.6483	L	0.34521	1.04	0.52099	D	0.999945	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	D	0.90074	0.4165	10	0.87932	D	0	.	15.7316	0.77810	1.0:0.0:0.0:0.0	.	90;90	Q93073;Q93073-2	SBP2L_HUMAN;.	H	90	ENSP00000261847:Y90H	ENSP00000261847:Y90H	Y	-	1	0	SECISBP2L	47115083	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.667000	0.91153	2.114000	0.64651	0.533000	0.62120	TAC		0.403	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		37	117	0	0	0	1	0	37	117				
RPS23	6228	broad.mit.edu	37	5	81571973	81571973	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:81571973A>G	ENST00000296674.8	-	4	640	c.387T>C	c.(385-387)tcT>tcC	p.S129S	RPS23_ENST00000503605.1_Intron|RPS23_ENST00000510019.1_Intron|RPS23_ENST00000507980.1_3'UTR|RPS23_ENST00000510210.1_Intron|RPS23_ENST00000512493.1_Intron|ATG10_ENST00000514253.2_3'UTR	NM_001025.4	NP_001016.1	P62266	RS23_HUMAN	ribosomal protein S23	129					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)|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)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			prostate(1)	1		Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31)		GGGCCAAAAGAGAAACATTGG	0.368																																						ENST00000296674.8																			0				prostate(1)	1						c.(385-387)tcT>tcC		ribosomal protein S23							78.0	73.0	75.0					5																	81571973		1827	4070	5897	SO:0001819	synonymous_variant	6228				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr5:81571973A>G	AB007158	CCDS47241.1	5q14.2	2013-05-09			ENSG00000186468	ENSG00000186468		"""S ribosomal proteins"""	10410	protein-coding gene	gene with protein product		603683				9582194	Standard	NM_001025		Approved	S23	uc003khu.3	P62266	OTTHUMG00000162557	ENST00000296674.8:c.387T>C	5.37:g.81571973A>G						RPS23_ENST00000512493.1_Intron|RPS23_ENST00000510019.1_Intron|RPS23_ENST00000507980.1_3'UTR|RPS23_ENST00000503605.1_Intron|RPS23_ENST00000510210.1_Intron|ATG10_ENST00000514253.2_3'UTR	p.S129S	NM_001025.4	NP_001016.1	P62266	RS23_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31)	4	640	-		Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336)	129					P39028|Q6IB08	Silent	SNP	ENST00000296674.8	37	c.387T>C	CCDS47241.1																																																																																				0.368	RPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369546.2	NM_001025		15	49	0	0	0	1	0	15	49				
DNMT1	1786	broad.mit.edu	37	19	10247831	10247831	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10247831A>G	ENST00000340748.4	-	36	4606	c.4371T>C	c.(4369-4371)taT>taC	p.Y1457Y	DNMT1_ENST00000540357.1_Silent_p.Y1457Y|DNMT1_ENST00000359526.4_Silent_p.Y1473Y|DNMT1_ENST00000589538.1_5'Flank			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1457	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CATGGTGGGTATACCGCAGCT	0.652																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(4369-4371)taT>taC		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						39.0	27.0	31.0					19																	10247831		2201	4300	6501	SO:0001819	synonymous_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10247831A>G	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.4371T>C	19.37:g.10247831A>G						DNMT1_ENST00000359526.4_Silent_p.Y1473Y|DNMT1_ENST00000540357.1_Silent_p.Y1457Y	p.Y1457Y			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		36	4606	-			1457			Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	c.4371T>C	CCDS12228.1																																																																																				0.652	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		4	12	0	0	0	1	0	4	12				
PLXNB1	5364	broad.mit.edu	37	3	48456740	48456740	+	Missense_Mutation	SNP	A	A	G	rs532773707		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:48456740A>G	ENST00000358536.4	-	20	4080	c.3811T>C	c.(3811-3813)Tgc>Cgc	p.C1271R	PLXNB1_ENST00000296440.6_Missense_Mutation_p.C1271R|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.C1088R|PLXNB1_ENST00000358459.4_Missense_Mutation_p.C1088R	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1271	IPT/TIG 3.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCACGGACGCATATCTCACGT	0.582																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(3811-3813)Tgc>Cgc		plexin B1							68.0	56.0	60.0					3																	48456740		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48456740A>G	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.3811T>C	3.37:g.48456740A>G	ENSP00000351338:p.Cys1271Arg					PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000358459.4_Missense_Mutation_p.C1088R|PLXNB1_ENST00000296440.6_Missense_Mutation_p.C1271R|PLXNB1_ENST00000456774.1_Missense_Mutation_p.C1088R	p.C1271R	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	20	4080	-			1271			IPT/TIG 3.		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.3811T>C	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	A	7.074	0.568922	0.13560	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.15	-3.07	0.05363	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.847491	0.10863	N	0.625865	T	0.33089	0.0851	N	0.00446	-1.495	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35475	-0.9787	10	0.22109	T	0.4	.	5.4064	0.16324	0.3412:0.0:0.4095:0.2493	.	1271;1088	O43157;O43157-2	PLXB1_HUMAN;.	R	1271;1088;1271;1088	ENSP00000296440:C1271R;ENSP00000351242:C1088R;ENSP00000351338:C1271R;ENSP00000414199:C1088R	ENSP00000296440:C1271R	C	-	1	0	PLXNB1	48431744	0.000000	0.05858	0.554000	0.28268	0.861000	0.49209	-0.692000	0.05127	-0.546000	0.06216	-0.274000	0.10170	TGC		0.582	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		9	37	0	0	0	1	0	9	37				
ABHD8	79575	broad.mit.edu	37	19	17412082	17412082	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17412082G>A	ENST00000247706.3	-	2	583	c.344C>T	c.(343-345)gCc>gTc	p.A115V	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000594999.1_5'Flank	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	115							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CTCCAGGGCGGCCGGCGGCTC	0.726																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(343-345)gCc>gTc		abhydrolase domain containing 8							13.0	14.0	14.0					19																	17412082		1906	3811	5717	SO:0001583	missense	79575						hydrolase activity	g.chr19:17412082G>A	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.344C>T	19.37:g.17412082G>A	ENSP00000247706:p.Ala115Val					MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.A115V	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			2	583	-			115					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.344C>T	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490383	0.44249	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.33654	1.4	5.24	4.19	0.49359	.	0.284636	0.38005	N	0.001860	T	0.23451	0.0567	N	0.14661	0.345	0.21984	N	0.99944	B	0.20052	0.041	B	0.16722	0.016	T	0.22941	-1.0202	10	0.66056	D	0.02	-11.1325	12.4401	0.55619	0.0:0.3227:0.6773:0.0	.	115	Q96I13	ABHD8_HUMAN	V	115;61	ENSP00000247706:A115V	ENSP00000247706:A115V	A	-	2	0	ABHD8	17273082	0.937000	0.31787	0.171000	0.22900	0.897000	0.52465	2.107000	0.41844	1.187000	0.43000	0.491000	0.48974	GCC		0.726	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		12	47	0	0	0	1	0	12	47				
PAPPA	5069	broad.mit.edu	37	9	118949746	118949746	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:118949746T>C	ENST00000328252.3	+	2	1098	c.729T>C	c.(727-729)agT>agC	p.S243S	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	243					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TAGGGGGCAGTGCCCTGAATC	0.562																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(727-729)agT>agC		pregnancy-associated plasma protein A, pappalysin 1							83.0	81.0	82.0					9																	118949746		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118949746T>C		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.729T>C	9.37:g.118949746T>C							p.S243S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			2	1098	+			243					B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.729T>C	CCDS6813.1																																																																																				0.562	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		4	149	0	0	0	1	0	4	149				
ERBB2	2064	broad.mit.edu	37	17	37883982	37883982	+	Silent	SNP	G	G	A	rs144501267	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:37883982G>A	ENST00000269571.5	+	27	3612	c.3453G>A	c.(3451-3453)tcG>tcA	p.S1151S	ERBB2_ENST00000541774.1_Silent_p.S1136S|ERBB2_ENST00000540147.1_Silent_p.S1121S|ERBB2_ENST00000584601.1_Silent_p.S1121S|ERBB2_ENST00000584450.1_3'UTR|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000445658.2_Silent_p.S875S|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000406381.2_Silent_p.S1121S			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1151					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	AGCCCCCTTCGCCCCGAGAGG	0.602		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			G|||	2	0.000399361	0.0015	0.0	5008	,	,		16491	0.0		0.0	False		,,,				2504	0.0					ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(3361-3363)tcG>tcA		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	G	,	3,4403	6.2+/-15.9	0,3,2200	35.0	42.0	40.0		3363,3453	-10.1	0.0	17	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ERBB2	NM_001005862.1,NM_004448.2	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	1121/1226,1151/1256	37883982	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37883982G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3453G>A	17.37:g.37883982G>A		TCGA GBM(5;<1E-08)				ERBB2_ENST00000540147.1_Silent_p.S1121S|ERBB2_ENST00000541774.1_Silent_p.S1136S|ERBB2_ENST00000445658.2_Silent_p.S875S|ERBB2_ENST00000584601.1_Silent_p.S1121S|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000269571.5_Silent_p.S1151S	p.S1121S	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	29	3873	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	1151					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.3363G>A	CCDS32642.1																																																																																				0.602	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			21	51	0	0	0	1	0	21	51				
ELMO2	63916	broad.mit.edu	37	20	45022181	45022181	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:45022181T>C	ENST00000290246.6	-	5	373	c.179A>G	c.(178-180)tAc>tGc	p.Y60C	ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.Y60C|ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.Y60C|ELMO2_ENST00000439931.2_Missense_Mutation_p.Y60C	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	60					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TTCGGTGATGTACAGCTGAGG	0.468																																						ENST00000290246.6																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(178-180)tAc>tGc		engulfment and cell motility 2							230.0	223.0	225.0					20																	45022181		2203	4300	6503	SO:0001583	missense	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45022181T>C	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.179A>G	20.37:g.45022181T>C	ENSP00000290246:p.Tyr60Cys					ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.Y60C|ELMO2_ENST00000396391.1_Missense_Mutation_p.Y60C|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000439931.2_Missense_Mutation_p.Y60C	p.Y60C	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN			5	373	-		Myeloproliferative disorder(115;0.0122)	60					E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.179A>G	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.995086	0.74703	.	.	ENSG00000062598	ENST00000290246;ENST00000396391;ENST00000439931;ENST00000352077;ENST00000450812	T;T;T;T;T	0.33216	2.18;2.18;2.16;2.16;1.42	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.984	T	0.64499	-0.6393	10	0.87932	D	0	-18.7292	12.9549	0.58421	0.0:0.0:0.0:1.0	.	60;60	B4DRL5;Q96JJ3	.;ELMO2_HUMAN	C	60	ENSP00000290246:Y60C;ENSP00000379673:Y60C;ENSP00000396519:Y60C;ENSP00000326172:Y60C;ENSP00000416181:Y60C	ENSP00000290246:Y60C	Y	-	2	0	ELMO2	44455588	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.720000	0.84759	1.858000	0.53909	0.402000	0.26972	TAC		0.468	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		24	371	0	0	0	1	0	24	371				
VWF	7450	broad.mit.edu	37	12	6167200	6167200	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:6167200A>G	ENST00000261405.5	-	14	1798	c.1544T>C	c.(1543-1545)gTc>gCc	p.V515A		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	515	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCCGGCATAGACGGGGGACAG	0.577																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(1543-1545)gTc>gCc		von Willebrand factor	Antihemophilic Factor(DB00025)						30.0	32.0	31.0					12																	6167200		2196	4292	6488	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6167200A>G		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1544T>C	12.37:g.6167200A>G	ENSP00000261405:p.Val515Ala						p.V515A	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			14	1798	-			515			VWFD 2.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.1544T>C	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.979881	0.00448	.	.	ENSG00000110799	ENST00000261405	T	0.58060	0.36	5.03	-2.91	0.05631	von Willebrand factor, type D domain (3);	3.131640	0.01362	N	0.012295	T	0.31796	0.0808	N	0.03967	-0.31	0.09310	N	0.999999	B;P	0.35714	0.001;0.517	B;B	0.39379	0.006;0.298	T	0.29243	-1.0018	10	0.07990	T	0.79	.	13.2758	0.60186	0.4837:0.0:0.5163:0.0	.	515;515	B4DNX0;P04275	.;VWF_HUMAN	A	515	ENSP00000261405:V515A	ENSP00000261405:V515A	V	-	2	0	VWF	6037461	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.042000	0.13949	-0.412000	0.07519	-0.366000	0.07423	GTC		0.577	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		17	103	0	0	0	1	0	17	103				
KDM5B	10765	broad.mit.edu	37	1	202722136	202722136	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:202722136A>G	ENST00000367265.3	-	12	2762	c.1598T>C	c.(1597-1599)gTa>gCa	p.V533A	KDM5B_ENST00000456180.1_5'Flank|KDM5B_ENST00000367264.2_Missense_Mutation_p.V569A	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	533	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTTCTTCATTACATTTTCTAG	0.448																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(1597-1599)gTa>gCa		lysine (K)-specific demethylase 5B							102.0	111.0	108.0					1																	202722136		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202722136A>G	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1598T>C	1.37:g.202722136A>G	ENSP00000356234:p.Val533Ala					KDM5B_ENST00000367264.2_Missense_Mutation_p.V569A	p.V533A	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			12	2762	-			533			JmjC.		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.1598T>C	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.507712	0.85282	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.70986	-0.53;-0.53;-0.53	5.98	5.98	0.97165	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	T	0.52092	0.1713	N	0.01771	-0.73	0.80722	D	1	P;P	0.46578	0.88;0.597	B;P	0.44647	0.315;0.456	T	0.66532	-0.5900	10	0.56958	D	0.05	-21.4848	16.4781	0.84144	1.0:0.0:0.0:0.0	.	569;533	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	A	533;375;569;375	ENSP00000356234:V533A;ENSP00000356233:V569A;ENSP00000235790:V375A	ENSP00000235790:V375A	V	-	2	0	KDM5B	200988759	1.000000	0.71417	0.112000	0.21494	0.992000	0.81027	9.335000	0.96500	2.288000	0.76882	0.528000	0.53228	GTA		0.448	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		29	58	0	0	0	1	0	29	58				
DSCC1	79075	broad.mit.edu	37	8	120855895	120855895	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:120855895C>T	ENST00000313655.4	-	5	884	c.670G>A	c.(670-672)Gtt>Att	p.V224I		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	224					DNA replication (GO:0006260)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCAAAGGAACTTTACCAAAA	0.378																																						ENST00000313655.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9						c.(670-672)Gtt>Att		DNA replication and sister chromatid cohesion 1							156.0	165.0	162.0					8																	120855895		2203	4300	6503	SO:0001583	missense	79075				DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding	g.chr8:120855895C>T		CCDS6330.1	8q24.12	2013-05-24	2013-05-24		ENSG00000136982	ENSG00000136982			24453	protein-coding gene	gene with protein product	"""defective in sister chromatid cohesion homolog 1 (S. cerevisiae)"""	613203	"""defective in sister chromatid cohesion 1 homolog (S. cerevisiae)"""			12766176, 20826785	Standard	NM_024094		Approved	DCC1, hDCC1, MGC5528	uc003yov.3	Q9BVC3	OTTHUMG00000165010	ENST00000313655.4:c.670G>A	8.37:g.120855895C>T	ENSP00000322180:p.Val224Ile						p.V224I	NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		5	884	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		224					Q969N5	Missense_Mutation	SNP	ENST00000313655.4	37	c.670G>A	CCDS6330.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409676	0.25465	.	.	ENSG00000136982	ENST00000313655	T	0.46451	0.87	5.29	3.5	0.40072	.	0.110160	0.64402	D	0.000008	T	0.39784	0.1091	L	0.56280	1.765	0.58432	D	0.999997	P	0.48162	0.906	P	0.45610	0.487	T	0.14172	-1.0482	10	0.15952	T	0.53	-14.9253	11.6678	0.51383	0.0:0.8564:0.0:0.1436	.	224	Q9BVC3	DCC1_HUMAN	I	224	ENSP00000322180:V224I	ENSP00000322180:V224I	V	-	1	0	DSCC1	120925076	1.000000	0.71417	0.963000	0.40424	0.149000	0.21700	4.766000	0.62279	0.741000	0.32674	-0.142000	0.14014	GTT		0.378	DSCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381443.1	NM_024094		5	278	0	0	0	1	0	5	278				
SLC39A3	29985	broad.mit.edu	37	19	2732884	2732884	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:2732884G>A	ENST00000269740.4	-	3	1139	c.810C>T	c.(808-810)ggC>ggT	p.G270G	AC006538.4_ENST00000586572.1_Intron|SLC39A3_ENST00000545664.1_Silent_p.G270G	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	270					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGGTGCCGCCCGCCAGGC	0.672																																						ENST00000269740.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10						c.(808-810)ggC>ggT		solute carrier family 39 (zinc transporter), member 3							46.0	40.0	42.0					19																	2732884		2202	4298	6500	SO:0001819	synonymous_variant	29985					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr19:2732884G>A	AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"""Solute carriers"""	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.810C>T	19.37:g.2732884G>A						SLC39A3_ENST00000545664.1_Silent_p.G270G|AC006538.4_ENST00000586572.1_Intron	p.G270G	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1139	-		Hepatocellular(1079;0.137)	270					B3KMJ3|Q8WUG1	Silent	SNP	ENST00000269740.4	37	c.810C>T	CCDS12093.1																																																																																				0.672	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2			22	81	0	0	0	1	0	22	81				
SLC25A31	83447	broad.mit.edu	37	4	128688369	128688369	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:128688369A>G	ENST00000281154.4	+	4	795	c.627A>G	c.(625-627)acA>acG	p.T209T		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	209					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CTTATGACACAGTTAAGGTAA	0.338																																						ENST00000281154.4																			0				NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						c.(625-627)acA>acG		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31							162.0	158.0	160.0					4																	128688369		2203	4300	6503	SO:0001819	synonymous_variant	83447				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	g.chr4:128688369A>G	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.627A>G	4.37:g.128688369A>G							p.T209T	NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN			4	795	+			209						Silent	SNP	ENST00000281154.4	37	c.627A>G	CCDS3733.1																																																																																				0.338	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291		12	142	0	0	0	1	0	12	142				
EIF2A	83939	broad.mit.edu	37	3	150290239	150290239	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:150290239C>T	ENST00000460851.1	+	10	1415	c.1306C>T	c.(1306-1308)Ccc>Tcc	p.P436S	EIF2A_ENST00000406576.3_Missense_Mutation_p.P375S|EIF2A_ENST00000383043.3_Missense_Mutation_p.P222S|EIF2A_ENST00000273435.5_Missense_Mutation_p.P431S|EIF2A_ENST00000487799.1_Missense_Mutation_p.P411S|SERP1_ENST00000479209.1_Intron|SERP1_ENST00000490945.1_Intron			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	436					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AAGTGAAGTACCCAATGAGGA	0.373																																						ENST00000460851.1																			0				cervix(1)|endometrium(2)|kidney(1)|lung(3)	7						c.(1306-1308)Ccc>Tcc		eukaryotic translation initiation factor 2A, 65kDa							85.0	81.0	82.0					3																	150290239		1834	4097	5931	SO:0001583	missense	83939				regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding	g.chr3:150290239C>T	AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.1306C>T	3.37:g.150290239C>T	ENSP00000417229:p.Pro436Ser					EIF2A_ENST00000273435.5_Missense_Mutation_p.P431S|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000487799.1_Missense_Mutation_p.P411S|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000406576.3_Missense_Mutation_p.P375S|EIF2A_ENST00000383043.3_Missense_Mutation_p.P222S	p.P436S			Q9BY44	EIF2A_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		10	1415	+		Melanoma(1037;0.0575)	436					A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Missense_Mutation	SNP	ENST00000460851.1	37	c.1306C>T	CCDS46935.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749769	0.30955	.	.	ENSG00000144895	ENST00000487799;ENST00000460851;ENST00000406576;ENST00000273435;ENST00000383043	T;T;T;T;T	0.42513	1.56;1.56;1.55;1.55;0.97	6.17	6.17	0.99709	.	0.103333	0.64402	D	0.000003	T	0.33702	0.0872	L	0.41027	1.25	0.58432	D	0.999992	B;B;B	0.16396	0.017;0.001;0.001	B;B;B	0.14023	0.01;0.002;0.002	T	0.11275	-1.0594	10	0.10902	T	0.67	-6.5848	14.9567	0.71120	0.0:0.9326:0.0:0.0674	.	375;411;436	B4DF96;B4DQ14;Q9BY44	.;.;EIF2A_HUMAN	S	411;436;375;431;222	ENSP00000420537:P411S;ENSP00000417229:P436S;ENSP00000385292:P375S;ENSP00000273435:P431S;ENSP00000372513:P222S	ENSP00000273435:P431S	P	+	1	0	EIF2A	151772929	1.000000	0.71417	0.975000	0.42487	0.953000	0.61014	5.027000	0.64109	2.941000	0.99782	0.655000	0.94253	CCC		0.373	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025		9	150	0	0	0	1	0	9	150				
MYH7	4625	broad.mit.edu	37	14	23900121	23900121	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23900121G>T	ENST00000355349.3	-	10	1046	c.884C>A	c.(883-885)cCt>cAt	p.P295H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	295	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAGCAGCTCAGGCTTTTTGTT	0.498																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(883-885)cCt>cAt		myosin, heavy chain 7, cardiac muscle, beta							129.0	140.0	136.0					14																	23900121		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23900121G>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.884C>A	14.37:g.23900121G>T	ENSP00000347507:p.Pro295His						p.P295H	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	10	1046	-	all_cancers(95;2.54e-05)		295			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.884C>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474582	0.63737	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.87571	-2.27	3.63	3.63	0.41609	Myosin head, motor domain (2);	.	.	.	.	D	0.94594	0.8258	M	0.92784	3.345	0.80722	D	1	D	0.63046	0.992	D	0.72075	0.976	D	0.96084	0.9056	9	0.87932	D	0	.	15.4848	0.75557	0.0:0.0:1.0:0.0	.	295	P12883	MYH7_HUMAN	H	295	ENSP00000347507:P295H	ENSP00000347507:P295H	P	-	2	0	MYH7	22969961	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	7.513000	0.81739	1.867000	0.54127	0.313000	0.20887	CCT		0.498	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		18	217	1	0	2.35188e-11	1	2.44398e-11	18	217				
RD3	343035	broad.mit.edu	37	1	211652549	211652549	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:211652549C>T	ENST00000367002.4	-	3	1580	c.417G>A	c.(415-417)acG>acA	p.T139T	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	139					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		TCCACTGGCGCGTCAGCTTGT	0.682																																						ENST00000367002.4																			0				central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(415-417)acG>acA		retinal degeneration 3							24.0	22.0	23.0					1																	211652549		2200	4299	6499	SO:0001819	synonymous_variant	343035				response to stimulus|visual perception			g.chr1:211652549C>T	AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"""chromosome 1 open reading frame 36"""	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.417G>A	1.37:g.211652549C>T						RD3_ENST00000484910.1_5'UTR	p.T139T	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)	3	1580	-			139					A8K595	Silent	SNP	ENST00000367002.4	37	c.417G>A	CCDS1498.1																																																																																				0.682	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089837.1	NM_183059		7	14	0	0	0	1	0	7	14				
DNAH8	1769	broad.mit.edu	37	6	38905911	38905911	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:38905911T>C	ENST00000359357.3	+	76	11328	c.11074T>C	c.(11074-11076)Tac>Cac	p.Y3692H	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.Y3909H|DNAH8_ENST00000441566.1_Missense_Mutation_p.Y3656H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3692					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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGCATCCTCTACTTCCTCAT	0.517																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(11074-11076)Tac>Cac		dynein, axonemal, heavy chain 8							116.0	96.0	103.0					6																	38905911		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38905911T>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11074T>C	6.37:g.38905911T>C	ENSP00000352312:p.Tyr3692His					DNAH8_ENST00000449981.2_Missense_Mutation_p.Y3909H|DNAH8_ENST00000441566.1_Missense_Mutation_p.Y3656H|RP1-207H1.3_ENST00000416948.1_RNA	p.Y3692H							76	11328	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.11074T>C		.	.	.	.	.	.	.	.	.	.	T	27.4	4.830630	0.91036	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.65916	-0.18;-0.18;-0.18	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.86740	0.6005	H	0.99347	4.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92388	0.5919	10	0.87932	D	0	.	16.0994	0.81158	0.0:0.0:0.0:1.0	.	3656;3692	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	H	3897;3897;3692;3656	ENSP00000333363:Y3897H;ENSP00000352312:Y3692H;ENSP00000402294:Y3656H	ENSP00000333363:Y3897H	Y	+	1	0	DNAH8	39013889	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.261000	0.74972	0.533000	0.62120	TAC		0.517	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		21	77	0	0	0	1	0	21	77				
FAM19A2	338811	broad.mit.edu	37	12	62148730	62148730	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:62148730C>T	ENST00000416284.3	-	3	1766	c.182G>A	c.(181-183)cGg>cAg	p.R61Q	FAM19A2_ENST00000550003.1_5'UTR|FAM19A2_ENST00000551619.1_Missense_Mutation_p.R61Q|FAM19A2_ENST00000551449.1_Intron	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	61						cytoplasm (GO:0005737)				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TGTTTGTGACCGTTCTTCTAT	0.483																																						ENST00000416284.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15						c.(181-183)cGg>cAg		family with sequence similarity 19 (chemokine (C-C motif)-like), member A2							211.0	144.0	167.0					12																	62148730		2203	4300	6503	SO:0001583	missense	338811					cytoplasm		g.chr12:62148730C>T	AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.182G>A	12.37:g.62148730C>T	ENSP00000393987:p.Arg61Gln					FAM19A2_ENST00000551619.1_Missense_Mutation_p.R61Q|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_5'UTR	p.R61Q	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)	3	1766	-			61					B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Missense_Mutation	SNP	ENST00000416284.3	37	c.182G>A	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	C	35	5.573227	0.96553	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000552075;ENST00000549958;ENST00000548780	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.83285	0.5221	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83827	0.0250	8	.	.	.	.	19.2833	0.94060	0.0:1.0:0.0:0.0	.	61	Q8N3H0	F19A2_HUMAN	Q	61;61;62;68;62	.	.	R	-	2	0	FAM19A2	60434997	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.749000	0.85096	2.557000	0.86248	0.558000	0.71614	CGG		0.483	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539		28	74	0	0	0	1	0	28	74				
FAM65B	9750	broad.mit.edu	37	6	24843275	24843275	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:24843275C>T	ENST00000259698.4	-	14	1910	c.1735G>A	c.(1735-1737)Gcc>Acc	p.A579T	FAM65B_ENST00000473070.1_5'UTR|FAM65B_ENST00000540914.1_Missense_Mutation_p.A529T|FAM65B_ENST00000538035.1_Missense_Mutation_p.A558T|AL512428.1_ENST00000583229.1_RNA|FAM65B_ENST00000510784.2_Missense_Mutation_p.A563T|FAM65B_ENST00000378023.4_Missense_Mutation_p.A529T	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	579					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CTGTCTGTGGCCATTGGCACC	0.512																																						ENST00000259698.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(1735-1737)Gcc>Acc		family with sequence similarity 65, member B							180.0	182.0	181.0					6																	24843275		1979	4176	6155	SO:0001583	missense	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24843275C>T	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1735G>A	6.37:g.24843275C>T	ENSP00000259698:p.Ala579Thr					FAM65B_ENST00000510784.2_Missense_Mutation_p.A563T|FAM65B_ENST00000473070.1_5'UTR|FAM65B_ENST00000378023.4_Missense_Mutation_p.A529T|FAM65B_ENST00000540914.1_Missense_Mutation_p.A529T|FAM65B_ENST00000538035.1_Missense_Mutation_p.A558T	p.A579T	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN			14	1910	-			579					A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	ENST00000259698.4	37	c.1735G>A	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	C	3.212	-0.161309	0.06502	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.15	2.18	0.27775	.	0.802967	0.11660	N	0.541926	T	0.03178	0.0093	N	0.05441	-0.05	0.09310	N	1	B;B;B;B	0.10296	0.003;0.001;0.002;0.001	B;B;B;B	0.08055	0.003;0.002;0.002;0.002	T	0.44436	-0.9328	10	0.07175	T	0.84	-7.7076	3.3736	0.07229	0.1846:0.448:0.0:0.3674	.	563;558;529;579	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	T	579;558;529;529;563	ENSP00000259698:A579T;ENSP00000441138:A558T;ENSP00000367262:A529T;ENSP00000438425:A529T;ENSP00000441305:A563T	ENSP00000259698:A579T	A	-	1	0	FAM65B	24951254	0.131000	0.22433	0.009000	0.14445	0.409000	0.31022	1.170000	0.31883	1.135000	0.42183	0.563000	0.77884	GCC		0.512	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			10	287	0	0	0	1	0	10	287				
PNMA5	114824	broad.mit.edu	37	X	152159713	152159713	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:152159713A>T	ENST00000439251.1	-	2	868	c.430T>A	c.(430-432)Tcc>Acc	p.S144T	PNMA5_ENST00000361887.5_Missense_Mutation_p.S144T|PNMA5_ENST00000535214.1_Missense_Mutation_p.S144T|PNMA5_ENST00000452693.1_Missense_Mutation_p.S144T	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	144					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGGTGGGGATCTAACTTGG	0.537																																						ENST00000439251.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(430-432)Tcc>Acc		paraneoplastic Ma antigen family member 5							147.0	149.0	148.0					X																	152159713		2203	4300	6503	SO:0001583	missense	114824				apoptosis			g.chrX:152159713A>T	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.430T>A	X.37:g.152159713A>T	ENSP00000388850:p.Ser144Thr					PNMA5_ENST00000535214.1_Missense_Mutation_p.S144T|PNMA5_ENST00000452693.1_Missense_Mutation_p.S144T|PNMA5_ENST00000361887.5_Missense_Mutation_p.S144T	p.S144T	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	868	-	Acute lymphoblastic leukemia(192;6.56e-05)		144					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.430T>A	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	A	3.126	-0.179463	0.06380	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.09817	2.94;2.94;2.94;2.94	2.73	-2.56	0.06268	.	.	.	.	.	T	0.05090	0.0136	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.45175	-0.9279	9	0.15066	T	0.55	.	4.5456	0.12079	0.3855:0.3857:0.2288:0.0	.	144	Q96PV4	PNMA5_HUMAN	T	144	ENSP00000354834:S144T;ENSP00000445775:S144T;ENSP00000388850:S144T;ENSP00000392342:S144T	ENSP00000354834:S144T	S	-	1	0	PNMA5	151910369	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.536000	0.02208	-0.904000	0.03876	-1.625000	0.00788	TCC		0.537	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		25	160	0	0	0	1	0	25	160				
ZNF432	9668	broad.mit.edu	37	19	52537581	52537581	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:52537581G>A	ENST00000594154.1	-	5	1563	c.1351C>T	c.(1351-1353)Cat>Tat	p.H451Y	ZNF432_ENST00000221315.5_Missense_Mutation_p.H451Y			O94892	ZN432_HUMAN	zinc finger protein 432	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTCCTGTATGAGTTCGCTGA	0.428																																						ENST00000594154.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29						c.(1351-1353)Cat>Tat		zinc finger protein 432							96.0	89.0	91.0					19																	52537581		2203	4300	6503	SO:0001583	missense	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52537581G>A	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1351C>T	19.37:g.52537581G>A	ENSP00000470488:p.His451Tyr					ZNF432_ENST00000221315.5_Missense_Mutation_p.H451Y	p.H451Y			O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	1563	-		all_neural(266;0.117)	451						Missense_Mutation	SNP	ENST00000594154.1	37	c.1351C>T	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356040	0.61293	.	.	ENSG00000256087	ENST00000221315	T	0.67523	-0.27	2.81	2.81	0.32909	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85660	0.5748	H	0.95260	3.645	0.32236	N	0.573299	D	0.67145	0.996	D	0.75020	0.985	D	0.88846	0.3316	9	0.87932	D	0	.	12.7967	0.57564	0.0:0.0:1.0:0.0	.	451	O94892	ZN432_HUMAN	Y	451	ENSP00000221315:H451Y	ENSP00000221315:H451Y	H	-	1	0	ZNF432	57229393	1.000000	0.71417	0.998000	0.56505	0.843000	0.47879	8.418000	0.90250	1.577000	0.49804	0.655000	0.94253	CAT		0.428	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		15	66	0	0	0	1	0	15	66				
SUOX	6821	broad.mit.edu	37	12	56397410	56397410	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56397410G>A	ENST00000394109.3	+	3	961	c.237G>A	c.(235-237)caG>caA	p.Q79Q	SUOX_ENST00000551841.2_Silent_p.Q79Q|SUOX_ENST00000394115.2_Silent_p.Q79Q|SUOX_ENST00000548274.1_Silent_p.Q79Q|SUOX_ENST00000266971.3_Silent_p.Q79Q|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Silent_p.Q79Q			P51687	SUOX_HUMAN	sulfite oxidase	79					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			AGGCTGCTCAGGAGTCAACAC	0.498																																						ENST00000394109.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15						c.(235-237)caG>caA		sulfite oxidase							69.0	70.0	70.0					12																	56397410		2203	4300	6503	SO:0001819	synonymous_variant	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56397410G>A	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.237G>A	12.37:g.56397410G>A						SUOX_ENST00000266971.3_Silent_p.Q79Q|SUOX_ENST00000356124.4_Silent_p.Q79Q|SUOX_ENST00000551841.2_Silent_p.Q79Q|SUOX_ENST00000548274.1_Silent_p.Q79Q|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000394115.2_Silent_p.Q79Q	p.Q79Q			P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		3	961	+			79						Silent	SNP	ENST00000394109.3	37	c.237G>A	CCDS8901.2																																																																																				0.498	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		4	151	0	0	0	1	0	4	151				
BAHCC1	57597	broad.mit.edu	37	17	79426610	79426610	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:79426610A>G	ENST00000307745.7	+	27	5885	c.5885A>G	c.(5884-5886)tAc>tGc	p.Y1962C	RP11-1055B8.8_ENST00000572590.1_RNA																							CGATGTCTGTACCCGGGCAAC	0.657																																						ENST00000307745.7																			0											c.(5884-5886)tAc>tGc									46.0	54.0	52.0					17																	79426610		2027	4171	6198	SO:0001583	missense	57597							g.chr17:79426610A>G																												ENST00000307745.7:c.5885A>G	17.37:g.79426610A>G	ENSP00000303486:p.Tyr1962Cys						p.Y1962C							27	5885	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.5885A>G		.	.	.	.	.	.	.	.	.	.	A	21.1	4.093166	0.76756	.	.	ENSG00000171282	ENST00000307745	T	0.50548	0.74	4.9	4.9	0.64082	.	0.000000	0.56097	D	0.000037	T	0.65873	0.2733	M	0.70595	2.14	0.48087	D	0.999581	D;D	0.89917	0.999;1.0	D;D	0.74348	0.921;0.983	T	0.70015	-0.4988	10	0.87932	D	0	.	12.4682	0.55771	1.0:0.0:0.0:0.0	.	1962;1962	Q9P281;F8WBW8	BAHC1_HUMAN;.	C	1962	ENSP00000303486:Y1962C	ENSP00000303486:Y1962C	Y	+	2	0	AC110285.1	77041205	1.000000	0.71417	0.822000	0.32727	0.860000	0.49131	6.565000	0.73974	1.843000	0.53566	0.459000	0.35465	TAC		0.657	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				9	91	0	0	0	1	0	9	91				
MFSD7	84179	broad.mit.edu	37	4	680338	680338	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:680338C>T	ENST00000404286.2	-	2	292	c.277G>A	c.(277-279)Gtc>Atc	p.V93I	MFSD7_ENST00000515118.1_Missense_Mutation_p.V93I|MFSD7_ENST00000503156.1_Missense_Mutation_p.V29I|MFSD7_ENST00000322224.4_Missense_Mutation_p.V93I|MFSD7_ENST00000347950.5_Missense_Mutation_p.V71I|MFSD7_ENST00000513740.1_5'UTR	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	93					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CGGAGCCCGACGGAGTCCAGG	0.647																																						ENST00000322224.4																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(277-279)Gtc>Atc		major facilitator superfamily domain containing 7							82.0	76.0	78.0					4																	680338		2203	4300	6503	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:680338C>T	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.277G>A	4.37:g.680338C>T	ENSP00000384616:p.Val93Ile					MFSD7_ENST00000404286.2_Missense_Mutation_p.V93I|MFSD7_ENST00000515118.1_Missense_Mutation_p.V93I|MFSD7_ENST00000347950.5_Missense_Mutation_p.V71I|MFSD7_ENST00000513740.1_5'UTR|MFSD7_ENST00000503156.1_Missense_Mutation_p.V29I	p.V93I			Q6UXD7	MFSD7_HUMAN			2	590	-			93					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.277G>A		.	.	.	.	.	.	.	.	.	.	C	2.110	-0.403938	0.04832	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118;ENST00000503156;ENST00000512249;ENST00000507165	T;T;T;T;T;T;T	0.58210	0.35;0.43;0.43;0.35;0.43;0.39;0.43	4.62	-0.828	0.10799	Major facilitator superfamily domain, general substrate transporter (1);	0.713878	0.13244	N	0.402668	T	0.28995	0.0720	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.34181	0.049;0.213;0.44;0.128;0.371	B;B;B;B;B	0.20955	0.019;0.024;0.024;0.032;0.031	T	0.10064	-1.0646	10	0.22706	T	0.39	-4.5463	2.8792	0.05641	0.3602:0.3341:0.0:0.3057	.	29;93;71;93;93	D6RIZ6;D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;.;MFSD7_HUMAN;.	I	71;93;93;93;29;93;29	ENSP00000307545:V71I;ENSP00000320234:V93I;ENSP00000384616:V93I;ENSP00000423204:V93I;ENSP00000425753:V29I;ENSP00000425038:V93I;ENSP00000424556:V29I	ENSP00000320234:V93I	V	-	1	0	MFSD7	670338	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.376000	0.07465	-0.052000	0.13311	0.462000	0.41574	GTC		0.647	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219		42	112	0	0	0	1	0	42	112				
PRDM14	63978	broad.mit.edu	37	8	70981504	70981504	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:70981504T>A	ENST00000276594.2	-	2	793	c.592A>T	c.(592-594)Acg>Tcg	p.T198S		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	198					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCCTCCTCCGTGAACTGGAAC	0.602																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(592-594)Acg>Tcg		PR domain containing 14							80.0	83.0	82.0					8																	70981504		2203	4300	6503	SO:0001583	missense	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70981504T>A	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.592A>T	8.37:g.70981504T>A	ENSP00000276594:p.Thr198Ser						p.T198S	NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		2	793	-	Breast(64;0.193)		198					Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	c.592A>T	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	T	14.02	2.409552	0.42715	.	.	ENSG00000147596	ENST00000276594	T	0.12774	2.65	5.5	5.5	0.81552	.	0.055620	0.64402	D	0.000002	T	0.22205	0.0535	L	0.60455	1.87	0.54753	D	0.999987	D	0.62365	0.991	P	0.50192	0.634	T	0.01537	-1.1330	10	0.28530	T	0.3	-25.5951	14.4348	0.67274	0.0:0.0:0.0:1.0	.	198	Q9GZV8	PRD14_HUMAN	S	198	ENSP00000276594:T198S	ENSP00000276594:T198S	T	-	1	0	PRDM14	71144058	1.000000	0.71417	0.996000	0.52242	0.021000	0.10359	4.343000	0.59348	2.087000	0.62958	0.533000	0.62120	ACG		0.602	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			4	118	0	0	0	1	0	4	118				
SBNO1	55206	broad.mit.edu	37	12	123782699	123782699	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:123782699C>T	ENST00000602398.1	-	31	3992	c.3865G>A	c.(3865-3867)Gca>Aca	p.A1289T	SBNO1_ENST00000602750.1_Missense_Mutation_p.A1288T|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1288T|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1289T			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1289					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCCAAGCTTGCTTTTTTGCAA	0.393																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(3865-3867)Gca>Aca		strawberry notch homolog 1 (Drosophila)							82.0	75.0	77.0					12																	123782699		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123782699C>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3865G>A	12.37:g.123782699C>T	ENSP00000473665:p.Ala1289Thr					SBNO1_ENST00000267176.4_Missense_Mutation_p.A1288T|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1289T|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1288T	p.A1289T	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	30	3864	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1289					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.3865G>A	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929035	0.52759	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	D;D	0.82984	-1.67;-1.67	6.03	6.03	0.97812	.	0.134612	0.48286	D	0.000193	T	0.73590	0.3606	N	0.12182	0.205	0.50313	D	0.999865	P;P	0.40731	0.608;0.728	B;B	0.41036	0.188;0.346	T	0.70528	-0.4847	10	0.16420	T	0.52	-9.8173	20.6242	0.99512	0.0:1.0:0.0:0.0	.	1289;1288	A3KN83;A3KN83-2	SBNO1_HUMAN;.	T	1289;1288	ENSP00000387361:A1289T;ENSP00000267176:A1288T	ENSP00000267176:A1288T	A	-	1	0	SBNO1	122348652	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.770000	0.85390	2.880000	0.98712	0.650000	0.86243	GCA		0.393	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		4	129	0	0	0	1	0	4	129				
CCDC66	285331	broad.mit.edu	37	3	56653450	56653450	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:56653450T>A	ENST00000394672.3	+	16	2600	c.2530T>A	c.(2530-2532)Tcc>Acc	p.S844T	CCDC66_ENST00000436465.2_Missense_Mutation_p.S844T|CCDC66_ENST00000326595.7_Missense_Mutation_p.S810T	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	844					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TTCTGAATCATCCCATTTTAT	0.378																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(2530-2532)Tcc>Acc		coiled-coil domain containing 66							97.0	107.0	104.0					3																	56653450		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56653450T>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.2530T>A	3.37:g.56653450T>A	ENSP00000378167:p.Ser844Thr					CCDC66_ENST00000326595.7_Missense_Mutation_p.S810T|CCDC66_ENST00000436465.2_Missense_Mutation_p.S844T	p.S844T	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	16	2600	+			844					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.2530T>A	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.865916	0.32977	.	.	ENSG00000180376	ENST00000394672;ENST00000326595;ENST00000436465	T;T;T	0.27557	1.66;1.66;1.66	5.04	2.68	0.31781	.	0.251882	0.40469	N	0.001083	T	0.30135	0.0755	M	0.62723	1.935	0.38601	D	0.950678	P	0.38223	0.623	B	0.42245	0.381	T	0.07654	-1.0761	10	0.25751	T	0.34	0.059	6.4223	0.21750	0.0:0.1444:0.1327:0.7229	.	844	A2RUB6	CCD66_HUMAN	T	844;810;844	ENSP00000378167:S844T;ENSP00000326050:S810T;ENSP00000404320:S844T	ENSP00000326050:S810T	S	+	1	0	CCDC66	56628490	0.001000	0.12720	0.630000	0.29268	0.797000	0.45037	0.306000	0.19279	0.481000	0.27557	0.482000	0.46254	TCC		0.378	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		25	69	0	0	0	1	0	25	69				
FOXN3	1112	broad.mit.edu	37	14	89647123	89647123	+	Missense_Mutation	SNP	G	G	A	rs201672702		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:89647123G>A	ENST00000345097.4	-	6	955	c.839C>T	c.(838-840)gCg>gTg	p.A280V	FOXN3_ENST00000557258.1_Missense_Mutation_p.A258V|FOXN3_ENST00000261302.5_Missense_Mutation_p.A280V|FOXN3_ENST00000555353.1_Missense_Mutation_p.A258V	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	280					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAGGACCCGCGCTCCATTTTG	0.562																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(838-840)gCg>gTg		forkhead box N3							26.0	25.0	26.0					14																	89647123		2203	4300	6503	SO:0001583	missense	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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.chr14:89647123G>A		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.839C>T	14.37:g.89647123G>A	ENSP00000343288:p.Ala280Val					FOXN3_ENST00000261302.5_Missense_Mutation_p.A280V|FOXN3_ENST00000557258.1_Missense_Mutation_p.A258V|FOXN3_ENST00000555353.1_Missense_Mutation_p.A258V	p.A280V	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			6	955	-			280					Q96II7|Q9UIE7	Missense_Mutation	SNP	ENST00000345097.4	37	c.839C>T	CCDS41977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.17|13.17	2.157929|2.157929	0.38119|0.38119	.|.	.|.	ENSG00000053254|ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353|ENST00000553840	D;D;D;D|.	0.95069|.	-3.6;-3.6;-3.35;-3.35|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.062950|.	0.64402|.	D|.	0.000008|.	T|T	0.54271|0.54271	0.1848|0.1848	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B;B|.	0.13145|.	0.004;0.007|.	B;B|.	0.09377|.	0.003;0.004|.	T|T	0.48581|0.48581	-0.9023|-0.9023	10|5	0.27082|.	T|.	0.32|.	.|.	19.132|19.132	0.93412|0.93412	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	280;258|.	O00409;O00409-2|.	FOXN3_HUMAN;.|.	V|C	280;280;258;258|129	ENSP00000343288:A280V;ENSP00000261302:A280V;ENSP00000452005:A258V;ENSP00000452227:A258V|.	ENSP00000261302:A280V|.	A|R	-|-	2|1	0|0	FOXN3|FOXN3	88716876|88716876	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.284000|0.284000	0.27059|0.27059	6.474000|6.474000	0.73578|0.73578	2.609000|2.609000	0.88269|0.88269	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.562	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		10	20	0	0	0	1	0	10	20				
BCKDHB	594	broad.mit.edu	37	6	80838882	80838882	+	Silent	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:80838882A>T	ENST00000320393.6	+	3	326	c.279A>T	c.(277-279)atA>atT	p.I93I	BCKDHB_ENST00000486968.1_3'UTR|BCKDHB_ENST00000545529.1_Silent_p.I93I|BCKDHB_ENST00000356489.5_Silent_p.I93I|BCKDHB_ENST00000369760.4_Silent_p.I93I	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	93					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		TTTCAGTAATATTTGGTGAAG	0.259																																						ENST00000545529.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15						c.(277-279)atA>atT		branched chain keto acid dehydrogenase E1, beta polypeptide							105.0	109.0	107.0					6																	80838882		2201	4300	6501	SO:0001819	synonymous_variant	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80838882A>T	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.279A>T	6.37:g.80838882A>T						BCKDHB_ENST00000369760.4_Silent_p.I93I|BCKDHB_ENST00000356489.5_Silent_p.I93I|BCKDHB_ENST00000320393.6_Silent_p.I93I|BCKDHB_ENST00000486968.1_3'UTR	p.I93I			P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	3	307	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	93					Q5T2J3|Q9BQL0	Silent	SNP	ENST00000320393.6	37	c.279A>T	CCDS4994.1																																																																																				0.259	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056		20	71	0	0	0	1	0	20	71				
FEM1B	10116	broad.mit.edu	37	15	68582120	68582120	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:68582120G>A	ENST00000306917.4	+	2	1039	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	142					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						ATACTTGGTTGAAAATAATGC	0.453																																						ENST00000306917.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(424-426)Gaa>Aaa		fem-1 homolog b (C. elegans)							100.0	81.0	87.0					15																	68582120		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68582120G>A		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.424G>A	15.37:g.68582120G>A	ENSP00000307298:p.Glu142Lys						p.E142K	NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN			2	1039	+			142					O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.424G>A	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235884	0.58886	.	.	ENSG00000169018	ENST00000306917	T	0.67171	-0.25	5.77	5.77	0.91146	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.58032	0.2094	N	0.20328	0.56	0.80722	D	1	P	0.49635	0.926	P	0.47891	0.56	T	0.53258	-0.8464	10	0.08381	T	0.77	-6.0007	18.9741	0.92728	0.0:0.0:1.0:0.0	.	142	Q9UK73	FEM1B_HUMAN	K	142	ENSP00000307298:E142K	ENSP00000307298:E142K	E	+	1	0	FEM1B	66369174	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.802000	0.99131	2.717000	0.92951	0.555000	0.69702	GAA		0.453	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			12	55	0	0	0	1	0	12	55				
SLC5A8	160728	broad.mit.edu	37	12	101560442	101560442	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:101560442A>G	ENST00000536262.2	-	12	1914	c.1356T>C	c.(1354-1356)atT>atC	p.I452I		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCCATAGAGAAATGGCAAATC	0.378																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1354-1356)atT>atC		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							82.0	74.0	77.0					12																	101560442		2203	4300	6503	SO:0001819	synonymous_variant	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101560442A>G	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1356T>C	12.37:g.101560442A>G							p.I452I	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			12	1914	-			452						Silent	SNP	ENST00000536262.2	37	c.1356T>C	CCDS9080.1																																																																																				0.378	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		26	29	0	0	0	1	0	26	29				
FAM135B	51059	broad.mit.edu	37	8	139164668	139164668	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:139164668A>G	ENST00000395297.1	-	13	2220	c.2050T>C	c.(2050-2052)Tct>Cct	p.S684P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	684										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCTGAATCAGATATGATGGAT	0.532										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2050-2052)Tct>Cct		family with sequence similarity 135, member B							72.0	72.0	72.0					8																	139164668		1936	4124	6060	SO:0001583	missense	51059							g.chr8:139164668A>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2050T>C	8.37:g.139164668A>G	ENSP00000378710:p.Ser684Pro	HNSCC(54;0.14)					p.S684P	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2220	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		684					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2050T>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	21.2	4.113943	0.77210	.	.	ENSG00000147724	ENST00000395297	T	0.57752	0.38	5.65	5.65	0.86999	.	0.125711	0.56097	D	0.000037	T	0.73194	0.3556	M	0.79258	2.445	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	T	0.76906	-0.2786	10	0.72032	D	0.01	-19.7521	15.069	0.72021	1.0:0.0:0.0:0.0	.	684;684;684	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	P	684	ENSP00000378710:S684P	ENSP00000276737:S684P	S	-	1	0	FAM135B	139233850	1.000000	0.71417	0.787000	0.31911	0.484000	0.33280	9.108000	0.94275	2.163000	0.67991	0.533000	0.62120	TCT		0.532	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		49	73	0	0	0	1	0	49	73				
GALNT10	55568	broad.mit.edu	37	5	153677561	153677561	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:153677561A>G	ENST00000297107.6	+	3	460	c.323A>G	c.(322-324)tAc>tGc	p.Y108C	GALNT10_ENST00000377661.2_Missense_Mutation_p.Y108C|GALNT10_ENST00000425427.2_Missense_Mutation_p.Y108C	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	108					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GATCAGGCATACCGAGAAAAT	0.428																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(322-324)tAc>tGc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							204.0	180.0	188.0					5																	153677561		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153677561A>G	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.323A>G	5.37:g.153677561A>G	ENSP00000297107:p.Tyr108Cys					GALNT10_ENST00000425427.2_Missense_Mutation_p.Y108C|GALNT10_ENST00000377661.2_Missense_Mutation_p.Y108C	p.Y108C	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		3	460	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	108					B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.323A>G	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.459108	0.84317	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.59364	0.51;0.27;0.38	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.81875	0.4915	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86293	0.1675	10	0.72032	D	0.01	.	16.2159	0.82217	1.0:0.0:0.0:0.0	.	108;108;108	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	C	108	ENSP00000415210:Y108C;ENSP00000297107:Y108C;ENSP00000366889:Y108C	ENSP00000297107:Y108C	Y	+	2	0	GALNT10	153657754	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	8.747000	0.91610	2.243000	0.73865	0.533000	0.62120	TAC		0.428	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		40	123	0	0	0	1	0	40	123				
MED26	9441	broad.mit.edu	37	19	16687460	16687460	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:16687460T>C	ENST00000263390.3	-	3	1443	c.1181A>G	c.(1180-1182)aAg>aGg	p.K394R	CTC-429P9.4_ENST00000593962.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.K402R	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	394					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						GTACCTCTTCTTCTTTTTACT	0.602																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(1180-1182)aAg>aGg		mediator complex subunit 26							70.0	60.0	64.0					19																	16687460		2203	4300	6503	SO:0001583	missense	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16687460T>C	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.1181A>G	19.37:g.16687460T>C	ENSP00000263390:p.Lys394Arg					CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.K402R	p.K394R	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	1443	-			394					A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	c.1181A>G	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	T	0.327	-0.958599	0.02267	.	.	ENSG00000105085	ENST00000263390	T	0.45668	0.89	5.19	4.18	0.49190	.	0.052828	0.64402	D	0.000001	T	0.24084	0.0583	N	0.20401	0.57	0.24134	N	0.99576	B	0.06786	0.001	B	0.08055	0.003	T	0.17561	-1.0365	10	0.19147	T	0.46	-19.1332	7.5095	0.27564	0.0:0.166:0.0:0.834	.	394	O95402	MED26_HUMAN	R	394	ENSP00000263390:K394R	ENSP00000263390:K394R	K	-	2	0	MED26	16548460	1.000000	0.71417	0.998000	0.56505	0.120000	0.20174	2.972000	0.49256	0.846000	0.35142	0.472000	0.43445	AAG		0.602	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		3	46	0	0	0	1	0	3	46				
UCKL1	54963	broad.mit.edu	37	20	62577008	62577008	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:62577008A>G	ENST00000354216.6	-	5	692	c.650T>C	c.(649-651)tTg>tCg	p.L217S	UCKL1_ENST00000358711.3_Missense_Mutation_p.L217S|UCKL1_ENST00000369892.3_Missense_Mutation_p.L217S|UCKL1_ENST00000369908.5_Missense_Mutation_p.L202S|MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000492660.1_5'Flank	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	217					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCTTACCTCCAACAGTGTCTT	0.587																																						ENST00000369908.5																			0				endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(604-606)tTg>tCg		uridine-cytidine kinase 1-like 1							111.0	98.0	102.0					20																	62577008		2203	4298	6501	SO:0001583	missense	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62577008A>G	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.650T>C	20.37:g.62577008A>G	ENSP00000346155:p.Leu217Ser					UCKL1_ENST00000369892.3_Missense_Mutation_p.L217S|UCKL1_ENST00000358711.3_Missense_Mutation_p.L217S|UCKL1_ENST00000354216.6_Missense_Mutation_p.L217S	p.L202S	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN			5	904	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		217					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	ENST00000354216.6	37	c.605T>C	CCDS13547.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578429	0.65878	.	.	ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000358711;ENST00000369908	.	.	.	5.43	5.43	0.79202	Phosphoribulokinase/uridine kinase (1);	0.000000	0.64402	D	0.000001	T	0.59918	0.2229	L	0.45698	1.435	0.58432	D	0.999998	P;P	0.43938	0.792;0.822	P;P	0.48571	0.516;0.582	T	0.61332	-0.7084	9	0.48119	T	0.1	-33.5868	14.0402	0.64669	1.0:0.0:0.0:0.0	.	202;217	B7Z8N2;Q9NWZ5	.;UCKL1_HUMAN	S	217;217;217;202	.	ENSP00000346155:L217S	L	-	2	0	UCKL1	62047452	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	8.772000	0.91757	2.068000	0.61886	0.402000	0.26972	TTG		0.587	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		6	69	0	0	0	1	0	6	69				
PLEKHF1	79156	broad.mit.edu	37	19	30164827	30164827	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:30164827G>A	ENST00000436066.3	+	2	547	c.81G>A	c.(79-81)caG>caA	p.Q27Q	PLEKHF1_ENST00000592810.1_Silent_p.Q27Q	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	27					apoptotic process (GO:0006915)|endosome organization (GO:0007032)|positive regulation of autophagy (GO:0010508)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein localization to plasma membrane (GO:0072659)|vesicle organization (GO:0016050)	endosome membrane (GO:0010008)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CCTCGGGGCAGCCGCTGGCGC	0.657																																						ENST00000436066.3																			0				breast(1)|lung(3)|ovary(1)|prostate(1)	6						c.(79-81)caG>caA		pleckstrin homology domain containing, family F (with FYVE domain) member 1							44.0	50.0	48.0					19																	30164827		2203	4299	6502	SO:0001819	synonymous_variant	79156				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding	g.chr19:30164827G>A	AF434818	CCDS12417.1	19q11	2013-01-10				ENSG00000166289		"""Zinc fingers, FYVE domain containing"", ""Pleckstrin homology (PH) domain containing"""	20764	protein-coding gene	gene with protein product		615200					Standard	NM_024310		Approved	APPD, MGC4090, PHAFIN1, ZFYVE15	uc002nsh.4	Q96S99		ENST00000436066.3:c.81G>A	19.37:g.30164827G>A						PLEKHF1_ENST00000592810.1_Silent_p.Q27Q	p.Q27Q	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)		2	547	+	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		27					Q96K11|Q9BUB9	Silent	SNP	ENST00000436066.3	37	c.81G>A	CCDS12417.1																																																																																				0.657	PLEKHF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459323.1	NM_024310		17	81	0	0	0	1	0	17	81				
WDR70	55100	broad.mit.edu	37	5	37725149	37725149	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:37725149C>A	ENST00000265107.4	+	16	1867	c.1711C>A	c.(1711-1713)Cca>Aca	p.P571T		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	571							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTAGCAGGCCCAGGTGACTG	0.537																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1711-1713)Cca>Aca		WD repeat domain 70							84.0	81.0	82.0					5																	37725149		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37725149C>A	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1711C>A	5.37:g.37725149C>A	ENSP00000265107:p.Pro571Thr						p.P571T	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		16	1867	+	all_lung(31;0.000285)		571					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.1711C>A	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263901	0.59431	.	.	ENSG00000082068	ENST00000265107	T	0.70164	-0.46	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.75213	0.3819	L	0.55743	1.74	0.80722	D	1	D	0.60575	0.988	P	0.57204	0.815	T	0.74731	-0.3566	10	0.51188	T	0.08	-64.5641	17.3038	0.87189	0.0:0.8751:0.1249:0.0	.	571	Q9NW82	WDR70_HUMAN	T	571	ENSP00000265107:P571T	ENSP00000265107:P571T	P	+	1	0	WDR70	37760906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.552000	0.67281	2.827000	0.97445	0.650000	0.86243	CCA		0.537	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		23	83	1	0	7.87624e-14	1	8.22829e-14	23	83				
ABCC4	10257	broad.mit.edu	37	13	95815404	95815404	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:95815404A>G	ENST00000376887.4	-	18	2394	c.2280T>C	c.(2278-2280)gaT>gaC	p.D760D	ABCC4_ENST00000536256.1_Silent_p.D685D|ABCC4_ENST00000412704.1_Silent_p.D713D|ABCC4_ENST00000431522.1_Silent_p.D760D	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	760	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	ACCAGTTAAGATCTAGCTTCT	0.373																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(2278-2280)gaT>gaC		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						202.0	205.0	204.0					13																	95815404		2202	4300	6502	SO:0001819	synonymous_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95815404A>G	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2280T>C	13.37:g.95815404A>G						ABCC4_ENST00000536256.1_Silent_p.D685D|ABCC4_ENST00000431522.1_Silent_p.D760D|ABCC4_ENST00000412704.1_Silent_p.D713D	p.D760D	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			18	2394	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		760			ABC transmembrane type-1 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	c.2280T>C	CCDS9474.1																																																																																				0.373	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		5	146	0	0	0	1	0	5	146				
AXIN1	8312	broad.mit.edu	37	16	396838	396838	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:396838C>T	ENST00000262320.3	-	2	559	c.188G>A	c.(187-189)cGc>cAc	p.R63H	AXIN1_ENST00000354866.3_Missense_Mutation_p.R63H|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	63					activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CAGATCCGAGCGCCTCGGAGT	0.602											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000262320.3																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(187-189)cGc>cAc		axin 1							37.0	35.0	36.0					16																	396838		2203	4300	6503	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:396838C>T	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.188G>A	16.37:g.396838C>T	ENSP00000262320:p.Arg63His		OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	588	AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Missense_Mutation_p.R63H	p.R63H	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			2	559	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	63					Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.188G>A	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411530	0.83340	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.65364	-0.15;-0.14	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.81269	0.4787	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83714	0.0189	10	0.87932	D	0	-20.0146	19.0468	0.93022	0.0:1.0:0.0:0.0	.	63;63	O15169-2;O15169	.;AXIN1_HUMAN	H	63	ENSP00000262320:R63H;ENSP00000346935:R63H	ENSP00000262320:R63H	R	-	2	0	AXIN1	336839	1.000000	0.71417	0.999000	0.59377	0.888000	0.51559	7.650000	0.83521	2.522000	0.85027	0.655000	0.94253	CGC		0.602	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			19	33	0	0	0	1	0	19	33				
PLD6	201164	broad.mit.edu	37	17	17106358	17106358	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:17106358A>T	ENST00000321560.3	-	2	510	c.482T>A	c.(481-483)aTc>aAc	p.I161N	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_178836.3	NP_849158.2	Q8N2A8	PLD6_HUMAN	phospholipase D family, member 6	161	PLD phosphodiesterase. {ECO:0000255|PROSITE-ProRule:PRU00153}.				DNA methylation involved in gamete generation (GO:0043046)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|meiotic nuclear division (GO:0007126)|mitochondrial fusion (GO:0008053)|P granule organization (GO:0030719)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|piRNA metabolic process (GO:0034587)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	cardiolipin hydrolase activity (GO:0035755)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(1)	2						CTTGTCCACGATGGCAAACTT	0.552																																						ENST00000321560.3																			0				endometrium(1)|lung(1)	2						c.(481-483)aTc>aAc		phospholipase D family, member 6							136.0	104.0	115.0					17																	17106358		2203	4300	6503	SO:0001583	missense	201164				DNA methylation involved in gamete generation|lipid catabolic process|meiosis|mitochondrial fusion|P granule organization|piRNA metabolic process|spermatid development	integral to membrane|mitochondrial outer membrane	cardiolipin hydrolase activity|protein homodimerization activity	g.chr17:17106358A>T	AK090899	CCDS11182.1	17p11.2	2008-08-14			ENSG00000179598	ENSG00000179598			30447	protein-coding gene	gene with protein product		614960				12477932	Standard	NM_178836		Approved		uc002gqz.3	Q8N2A8	OTTHUMG00000059278	ENST00000321560.3:c.482T>A	17.37:g.17106358A>T	ENSP00000317177:p.Ile161Asn					RP11-45M22.4_ENST00000427497.3_3'UTR	p.I161N	NM_178836.3	NP_849158.2	Q8N2A8	PLD6_HUMAN			2	510	-			161			PLD phosphodiesterase.		Q8N5Y1	Missense_Mutation	SNP	ENST00000321560.3	37	c.482T>A	CCDS11182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.62|17.62	3.435912|3.435912	0.62955|0.62955	.|.	.|.	ENSG00000179598|ENSG00000179598	ENST00000427497|ENST00000321560	.|T	.|0.27720	.|1.65	5.45|5.45	4.33|4.33	0.51752|0.51752	.|Phospholipase D/Transphosphatidylase (2);	.|0.220406	.|0.38959	.|N	.|0.001516	T|T	0.64000|0.64000	0.2559|0.2559	H|H	0.94385|0.94385	3.53|3.53	0.21822|0.21822	N|N	0.999523|0.999523	.|D	.|0.89917	.|1.0	.|D	.|0.79108	.|0.992	T|T	0.62798|0.62798	-0.6778|-0.6778	6|10	0.87932|0.87932	D|D	0|0	-13.6607|-13.6607	11.8148|11.8148	0.52204|0.52204	0.8691:0.0:0.0:0.1309|0.8691:0.0:0.0:0.1309	.|.	.|161	.|Q8N2A8	.|PLD6_HUMAN	Q|N	134|161	.|ENSP00000317177:I161N	ENSP00000394249:H134Q|ENSP00000317177:I161N	H|I	-|-	3|2	2|0	PLD6|PLD6	17047083|17047083	0.857000|0.857000	0.29778|0.29778	0.686000|0.686000	0.30086|0.30086	0.499000|0.499000	0.33736|0.33736	6.753000|6.753000	0.74904|0.74904	2.080000|2.080000	0.62538|0.62538	0.533000|0.533000	0.62120|0.62120	CAT|ATC		0.552	PLD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131600.2	NM_178836		16	71	0	0	0	1	0	16	71				
ZNF718	255403	broad.mit.edu	37	4	155776	155776	+	lincRNA	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:155776A>G	ENST00000510175.1	+	0	1211							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GCCTTTAAACAGTCCTCACAC	0.363																																						ENST00000510175.1																			0													zinc finger protein 718							32.0	36.0	35.0					4																	155776		2099	4255	6354			255403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:155776A>G	AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155776A>G										Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	0	1211	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)						Q3SXZ4|Q3SXZ5	RNA	SNP	ENST00000510175.1	37																																																																																						0.363	ZNF718-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000357865.3	NM_001039127		11	26	0	0	0	1	0	11	26				
SNX21	90203	broad.mit.edu	37	20	44463689	44463689	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:44463689A>G	ENST00000491381.1	+	3	449	c.381A>G	c.(379-381)gcA>gcG	p.A127A	SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Silent_p.A127A|SNX21_ENST00000462307.1_Silent_p.A127A|SNX21_ENST00000372542.1_Silent_p.A118A|TNNC2_ENST00000372557.1_5'Flank|SNX21_ENST00000372541.1_Silent_p.A118A			Q969T3	SNX21_HUMAN	sorting nexin family member 21	127					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				ACACCTTGGCACCCCAGCGGC	0.622																																						ENST00000372542.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(352-354)gcA>gcG		sorting nexin family member 21							67.0	64.0	65.0					20																	44463689		2203	4300	6503	SO:0001819	synonymous_variant	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44463689A>G	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"""Sorting nexins"", ""Tetratricopeptide (TTC) repeat domain containing"""	16154	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 161"""	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.381A>G	20.37:g.44463689A>G						SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Silent_p.A127A|SNX21_ENST00000462307.1_Silent_p.A127A|SNX21_ENST00000491381.1_Silent_p.A127A|SNX21_ENST00000372541.1_Silent_p.A118A	p.A118A			Q969T3	SNX21_HUMAN			2	666	+		Myeloproliferative disorder(115;0.0122)	127					Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Silent	SNP	ENST00000491381.1	37	c.354A>G	CCDS13377.1																																																																																				0.622	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		15	103	0	0	0	1	0	15	103				
DOCK5	80005	broad.mit.edu	37	8	25258486	25258486	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:25258486A>G	ENST00000276440.7	+	47	4874	c.4830A>G	c.(4828-4830)aaA>aaG	p.K1610K		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1610	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ATGGGGAGAAACTCACAGAGC	0.488																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(4828-4830)aaA>aaG		dedicator of cytokinesis 5							162.0	165.0	164.0					8																	25258486		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25258486A>G		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4830A>G	8.37:g.25258486A>G							p.K1610K	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	47	4874	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1610			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.4830A>G	CCDS6047.1																																																																																				0.488	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		27	367	0	0	0	1	0	27	367				
GJA5	2702	broad.mit.edu	37	1	147230337	147230337	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:147230337T>C	ENST00000271348.2	-	2	1171	c.1010A>G	c.(1009-1011)tAt>tGt	p.Y337C	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.Y337C	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	337					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GTCACTATGATAGCCATGGGG	0.557																																						ENST00000271348.2																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(1009-1011)tAt>tGt		gap junction protein, alpha 5, 40kDa							127.0	116.0	119.0					1																	147230337		2203	4300	6503	SO:0001583	missense	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230337T>C		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.1010A>G	1.37:g.147230337T>C	ENSP00000271348:p.Tyr337Cys					GJA5_ENST00000369237.1_Missense_Mutation_p.Y337C|RP11-433J22.2_ENST00000428911.1_RNA	p.Y337C	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	1171	-	all_hematologic(923;0.0276)		337					Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	c.1010A>G	CCDS929.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.519976	0.27211	.	.	ENSG00000143140	ENST00000271348;ENST00000369237	D;D	0.81908	-1.55;-1.55	5.38	5.38	0.77491	.	1.050290	0.07374	N	0.886237	T	0.73729	0.3624	M	0.68317	2.08	0.45962	D	0.998785	B	0.21225	0.053	B	0.19946	0.027	T	0.67425	-0.5674	10	0.40728	T	0.16	.	9.9599	0.41691	0.0:0.0747:0.0:0.9253	.	337	P36382	CXA5_HUMAN	C	337	ENSP00000271348:Y337C;ENSP00000358240:Y337C	ENSP00000271348:Y337C	Y	-	2	0	GJA5	145696961	1.000000	0.71417	0.975000	0.42487	0.905000	0.53344	1.160000	0.31761	2.254000	0.74563	0.533000	0.62120	TAT		0.557	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		4	109	0	0	0	1	0	4	109				
HIST1H4F	8361	broad.mit.edu	37	6	26240866	26240866	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:26240866A>G	ENST00000377745.2	+	1	306	c.213A>G	c.(211-213)gtA>gtG	p.V71V		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	71				V -> A (in Ref. 14; AAH67496). {ECO:0000305}.	CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GGGACGCCGTAACCTACACGG	0.582																																						ENST00000377745.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(211-213)gtA>gtG		histone cluster 1, H4f							93.0	78.0	83.0					6																	26240866		2203	4300	6503	SO:0001819	synonymous_variant	8361				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26240866A>G	M60749	CCDS4598.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198327			"""Histones / Replication-dependent"""	4783	protein-coding gene	gene with protein product		602824	"""H4 histone family, member C"", ""histone 1, H4f"""	H4FC		1916825, 9119399, 12408966	Standard	NM_003540		Approved	H4/c, H4	uc003nhe.1	P62805	OTTHUMG00000014443	ENST00000377745.2:c.213A>G	6.37:g.26240866A>G							p.V71V	NM_003540.3	NP_003531.1	P62805	H4_HUMAN			1	306	+		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	71	V -> A (in Ref. 14; AAH67496).				A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000377745.2	37	c.213A>G	CCDS4598.1																																																																																				0.582	HIST1H4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040106.1	NM_003540		10	63	0	0	0	1	0	10	63				
DCDC2B	149069	broad.mit.edu	37	1	32674856	32674856	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:32674856T>C	ENST00000409358.1	+	1	162	c.162T>C	c.(160-162)cgT>cgC	p.R54R	RP4-622L5.7_ENST00000421616.1_RNA	NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	54	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGGCTGTGCGTGCCCTCTACA	0.602																																						ENST00000409358.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11						c.(160-162)cgT>cgC		doublecortin domain containing 2B							67.0	74.0	71.0					1																	32674856		2138	4238	6376	SO:0001819	synonymous_variant	149069				intracellular signal transduction			g.chr1:32674856T>C	BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.162T>C	1.37:g.32674856T>C							p.R54R	NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN			1	162	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	54			Doublecortin 1.		B7ZBC6	Silent	SNP	ENST00000409358.1	37	c.162T>C	CCDS44100.1																																																																																				0.602	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328293.1	XM_940631		25	74	0	0	0	1	0	25	74				
LANCL2	55915	broad.mit.edu	37	7	55467744	55467744	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:55467744T>A	ENST00000254770.2	+	4	1203	c.625T>A	c.(625-627)Tac>Aac	p.Y209N	LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	209					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TGCCTTACTGTACCTGAACAC	0.483																																						ENST00000254770.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(625-627)Tac>Aac		LanC lantibiotic synthetase component C-like 2 (bacterial)							203.0	179.0	187.0					7																	55467744		2203	4300	6503	SO:0001583	missense	55915				negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	g.chr7:55467744T>A	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.625T>A	7.37:g.55467744T>A	ENSP00000254770:p.Tyr209Asn					LANCL2_ENST00000486376.1_3'UTR	p.Y209N	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		4	1203	+	Breast(14;0.0379)		209					B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	c.625T>A	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.379908	0.82682	.	.	ENSG00000132434	ENST00000254770	T	0.39997	1.05	5.48	5.48	0.80851	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.46157	1.445	0.80722	D	1	D	0.63046	0.992	D	0.68483	0.958	T	0.59423	-0.7457	10	0.72032	D	0.01	.	14.6865	0.69052	0.0:0.0:0.0:1.0	.	209	Q9NS86	LANC2_HUMAN	N	209	ENSP00000254770:Y209N	ENSP00000254770:Y209N	Y	+	1	0	LANCL2	55435238	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	7.345000	0.79337	2.205000	0.71048	0.533000	0.62120	TAC		0.483	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		36	104	0	0	0	1	0	36	104				
BBS1	582	broad.mit.edu	37	11	66297301	66297301	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:66297301G>A	ENST00000318312.7	+	14	1402	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Missense_Mutation_p.A322T|BBS1_ENST00000455748.2_Missense_Mutation_p.A354T|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.A488T	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	451					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CATGCACCGGGCCTTCCAGAC	0.677									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	ENST00000419755.3																			0											c.(1462-1464)Gcc>Acc									92.0	63.0	72.0					11																	66297301		2200	4295	6495	SO:0001583	missense	0		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr11:66297301G>A	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1351G>A	11.37:g.66297301G>A	ENSP00000317469:p.Ala451Thr					ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.A354T|BBS1_ENST00000393994.2_Missense_Mutation_p.A322T|BBS1_ENST00000318312.7_Missense_Mutation_p.A451T	p.A488T							14	1540	+								Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	c.1462G>A	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364282	0.24684	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994	D;D;D;D	0.96967	-4.12;-4.19;-4.0;-3.88	4.46	-3.23	0.05109	.	.	.	.	.	D	0.86908	0.6046	N	0.10782	0.045	0.80722	D	1	B;B;B;B;B;B	0.17667	0.0;0.023;0.0;0.001;0.0;0.0	B;B;B;B;B;B	0.08055	0.001;0.003;0.001;0.001;0.001;0.001	T	0.73877	-0.3844	9	0.02654	T	1	.	11.2078	0.48780	0.2821:0.0:0.7179:0.0	.	126;354;322;339;451;488	B4DH75;E7EQH1;Q32MM9;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;.;BBS1_HUMAN;.	T	488;451;354;322	ENSP00000398526:A488T;ENSP00000317469:A451T;ENSP00000405764:A354T;ENSP00000377563:A322T	ENSP00000317469:A451T	A	+	1	0	BBS1;CTD-3074O7.11	66053877	0.914000	0.31030	0.989000	0.46669	0.994000	0.84299	1.339000	0.33885	-0.435000	0.07264	-0.136000	0.14681	GCC		0.677	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			37	85	0	0	0	1	0	37	85				
LIM2	3982	broad.mit.edu	37	19	51883888	51883888	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:51883888A>G	ENST00000596399.1	-	4	378	c.331T>C	c.(331-333)Ttc>Ctc	p.F111L	LIM2_ENST00000221973.3_Missense_Mutation_p.F153L	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	111					cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		AACACGACGAAAAGGGCTGgg	0.602																																						ENST00000221973.3																			0				endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(457-459)Ttc>Ctc		lens intrinsic membrane protein 2, 19kDa							53.0	54.0	53.0					19																	51883888		2203	4300	6503	SO:0001583	missense	3982				cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens	g.chr19:51883888A>G		CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"""lens intrinsic membrane protein 2 (19kD)"""			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.331T>C	19.37:g.51883888A>G	ENSP00000472090:p.Phe111Leu					LIM2_ENST00000596399.1_Missense_Mutation_p.F111L	p.F153L	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)	4	499	-		all_neural(266;0.0529)	111					Q6B083|Q9BXD0|Q9HAR5	Missense_Mutation	SNP	ENST00000596399.1	37	c.457T>C	CCDS59415.1	.	.	.	.	.	.	.	.	.	.	A	18.82	3.705695	0.68615	.	.	ENSG00000105370	ENST00000221973	D	0.88586	-2.4	4.73	4.73	0.59995	.	0.110087	0.64402	D	0.000007	D	0.88355	0.6414	N	0.24115	0.695	0.80722	D	1	B;D	0.61697	0.083;0.99	B;D	0.72982	0.036;0.979	D	0.84621	0.0684	10	0.14252	T	0.57	-4.8883	12.201	0.54326	1.0:0.0:0.0:0.0	.	111;153	P55344;P55344-2	LMIP_HUMAN;.	L	153	ENSP00000221973:F153L	ENSP00000221973:F153L	F	-	1	0	LIM2	56575700	1.000000	0.71417	0.897000	0.35233	0.885000	0.51271	5.085000	0.64468	1.769000	0.52152	0.533000	0.62120	TTC		0.602	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464247.1	NM_030657		31	78	0	0	0	1	0	31	78				
RUNX2	860	broad.mit.edu	37	6	45390430	45390430	+	Silent	SNP	A	A	G	rs545654311	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:45390430A>G	ENST00000371438.1	+	2	517	c.159A>G	c.(157-159)caA>caG	p.Q53Q	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000352853.5_Silent_p.Q121Q|RUNX2_ENST00000576263.1_Silent_p.Q53Q|RUNX2_ENST00000371436.6_Silent_p.Q53Q|RUNX2_ENST00000541979.1_Silent_p.Q121Q|RUNX2_ENST00000371432.3_Silent_p.Q39Q|RUNX2_ENST00000359524.5_Silent_p.Q39Q|RUNX2_ENST00000465038.2_Silent_p.Q53Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	53	Poly-Gln.		Q -> L (in CLCD). {ECO:0000269|PubMed:12081718}.		BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.726													A|||	3	0.000599042	0.0	0.0	5008	,	,		8182	0.002		0.0	False		,,,				2504	0.001					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(157-159)caA>caG		runt-related transcription factor 2							20.0	28.0	26.0					6																	45390430		1780	3628	5408	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390430A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.159A>G	6.37:g.45390430A>G						RUNX2_ENST00000541979.1_Silent_p.Q121Q|RUNX2_ENST00000371436.6_Silent_p.Q53Q|RUNX2_ENST00000465038.2_Silent_p.Q53Q|RUNX2_ENST00000359524.5_Silent_p.Q39Q|RUNX2_ENST00000576263.1_Silent_p.Q53Q|RUNX2_ENST00000371432.3_Silent_p.Q39Q|RUNX2_ENST00000352853.5_Silent_p.Q121Q	p.Q53Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	517	+			53		Q -> L (in CLCD).	Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.159A>G	CCDS43467.2																																																																																				0.726	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		25	72	0	0	0	1	0	25	72				
KIAA1958	158405	broad.mit.edu	37	9	115422041	115422041	+	Missense_Mutation	SNP	G	G	A	rs201918113		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:115422041G>A	ENST00000337530.6	+	4	2139	c.1843G>A	c.(1843-1845)Ggg>Agg	p.G615R	KIAA1958_ENST00000536272.1_Missense_Mutation_p.G643R	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	615										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGTGTGTCACGGGAAGATCTA	0.587																																						ENST00000337530.6																			0				endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(1843-1845)Ggg>Agg		KIAA1958							52.0	51.0	51.0					9																	115422041		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115422041G>A	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1843G>A	9.37:g.115422041G>A	ENSP00000336940:p.Gly615Arg					KIAA1958_ENST00000536272.1_Missense_Mutation_p.G643R	p.G615R	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			4	2139	+			615					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.1843G>A	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963523	0.53507	.	.	ENSG00000165185	ENST00000337530;ENST00000536272	.	.	.	5.81	4.92	0.64577	.	.	.	.	.	T	0.43411	0.1246	N	0.24115	0.695	0.26960	N	0.965839	D;D	0.71674	0.998;0.983	P;P	0.56788	0.806;0.644	T	0.30387	-0.9980	8	0.20046	T	0.44	.	14.4173	0.67158	0.0713:0.0:0.9287:0.0	.	643;615	B7ZKW6;Q8N8K9	.;K1958_HUMAN	R	615;643	.	ENSP00000336940:G615R	G	+	1	0	KIAA1958	114461862	0.998000	0.40836	0.826000	0.32828	0.502000	0.33828	2.994000	0.49433	1.465000	0.48006	0.655000	0.94253	GGG		0.587	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		15	41	0	0	0	1	0	15	41				
ADAMTS1	9510	broad.mit.edu	37	21	28210880	28210880	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:28210880T>C	ENST00000284984.3	-	8	2536	c.2082A>G	c.(2080-2082)ggA>ggG	p.G694G		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	694	Cys-rich.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TTACACACTGTCCTTGCACAC	0.408																																						ENST00000284984.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(2080-2082)ggA>ggG		ADAM metallopeptidase with thrombospondin type 1 motif, 1							111.0	99.0	103.0					21																	28210880		2203	4300	6503	SO:0001819	synonymous_variant	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28210880T>C	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2082A>G	21.37:g.28210880T>C							p.G694G	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	8	2536	-		Breast(209;0.000962)	694			Cys-rich.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	ENST00000284984.3	37	c.2082A>G	CCDS33524.1																																																																																				0.408	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			12	33	0	0	0	1	0	12	33				
MBD3L1	85509	broad.mit.edu	37	19	8953875	8953875	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:8953875C>T	ENST00000595891.1	+	3	752	c.521C>T	c.(520-522)gCg>gTg	p.A174V	MBD3L1_ENST00000305625.2_Missense_Mutation_p.A174V			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	174					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						GCACTGATTGCGGATGGACTC	0.448																																						ENST00000595891.1																			0				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						c.(520-522)gCg>gTg		methyl-CpG binding domain protein 3-like 1							43.0	40.0	41.0					19																	8953875		2203	4298	6501	SO:0001583	missense	85509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:8953875C>T	AY038022	CCDS12209.1	19p13.2	2011-01-31	2003-03-19	2003-03-21	ENSG00000170948	ENSG00000170948			15774	protein-coding gene	gene with protein product		607963	"""methyl-CpG binding domain protein 3-like"""	MBD3L		12504854	Standard	NM_145208		Approved		uc002mko.2	Q8WWY6		ENST00000595891.1:c.521C>T	19.37:g.8953875C>T	ENSP00000471575:p.Ala174Val					MBD3L1_ENST00000305625.2_Missense_Mutation_p.A174V	p.A174V			Q8WWY6	MB3L1_HUMAN			3	752	+			174					B5BUM6|Q2M291	Missense_Mutation	SNP	ENST00000595891.1	37	c.521C>T	CCDS12209.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444292	0.25987	.	.	ENSG00000170948	ENST00000305625	T	0.67523	-0.27	3.83	0.461	0.16689	.	0.259877	0.20379	N	0.093481	T	0.44561	0.1299	L	0.45137	1.4	0.09310	N	0.999998	P	0.42871	0.792	B	0.22601	0.04	T	0.41928	-0.9481	10	0.62326	D	0.03	-7.7804	6.0328	0.19688	0.0:0.6599:0.0:0.3401	.	174	Q8WWY6	MB3L1_HUMAN	V	174	ENSP00000304198:A174V	ENSP00000304198:A174V	A	+	2	0	MBD3L1	8814875	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.213000	0.17521	0.195000	0.20347	0.655000	0.94253	GCG		0.448	MBD3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459973.1	NM_145208		7	25	0	0	0	1	0	7	25				
USP43	124739	broad.mit.edu	37	17	9631546	9631546	+	Missense_Mutation	SNP	G	G	A	rs368384262		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:9631546G>A	ENST00000285199.7	+	15	2707	c.2611G>A	c.(2611-2613)Gcc>Acc	p.A871T	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.A866T	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	871					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GTCCAACGTCGCCCTTCCTGC	0.627																																						ENST00000570827.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						c.(1678-1680)Gcc>Acc		ubiquitin specific peptidase 43		G	THR/ALA	0,4134		0,0,2067	37.0	41.0	40.0		2611	-5.5	0.0	17		40	1,8401		0,1,4200	no	missense	USP43	NM_153210.3	58	0,1,6267	AA,AG,GG		0.0119,0.0,0.0080	benign	871/1124	9631546	1,12535	2067	4201	6268	SO:0001583	missense	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9631546G>A	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2611G>A	17.37:g.9631546G>A	ENSP00000285199:p.Ala871Thr					USP43_ENST00000285199.6_Missense_Mutation_p.A871T|USP43_ENST00000570475.1_Missense_Mutation_p.A866T	p.A560T			Q70EL4	UBP43_HUMAN			15	2752	+			871					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	c.1678G>A	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	G	2.881	-0.231731	0.05983	0.0	1.19E-4	ENSG00000154914	ENST00000285199	T	0.08370	3.1	5.29	-5.48	0.02592	.	12.982900	0.00166	N	0.000013	T	0.02418	0.0074	N	0.01109	-1.01	0.09310	N	1	B;B;B;B	0.12013	0.0;0.0;0.0;0.005	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.42932	-0.9422	10	0.07644	T	0.81	-6.8697	8.5469	0.33426	0.3065:0.1488:0.5447:0.0	.	866;560;871;383	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	T	871	ENSP00000285199:A871T	ENSP00000285199:A871T	A	+	1	0	USP43	9572271	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.244000	0.08903	-0.942000	0.03695	-0.793000	0.03317	GCC		0.627	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		14	28	0	0	0	1	0	14	28				
ASB4	51666	broad.mit.edu	37	7	95115461	95115461	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:95115461T>C	ENST00000325885.5	+	1	249	c.178T>C	c.(178-180)Tat>Cat	p.Y60H	ASB4_ENST00000257621.4_Intron|ASB4_ENST00000428113.1_Missense_Mutation_p.Y60H	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	60					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTTGGCATCTTATAAACAAGG	0.323																																						ENST00000325885.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(178-180)Tat>Cat		ankyrin repeat and SOCS box containing 4							71.0	74.0	73.0					7																	95115461		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95115461T>C	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.178T>C	7.37:g.95115461T>C	ENSP00000321388:p.Tyr60His					ASB4_ENST00000428113.1_Missense_Mutation_p.Y60H|ASB4_ENST00000257621.4_Intron	p.Y60H	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		1	249	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		60					A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.178T>C	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.596217	0.66332	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.52295	0.88;0.67	5.02	5.02	0.67125	Ankyrin repeat-containing domain (1);	0.066029	0.64402	D	0.000006	T	0.54334	0.1852	L	0.27053	0.805	0.58432	D	0.999996	B;D	0.76494	0.029;0.999	B;D	0.87578	0.01;0.998	T	0.48969	-0.8987	10	0.23891	T	0.37	-18.4376	15.2668	0.73669	0.0:0.0:0.0:1.0	.	60;60	Q9Y574;Q14D68	ASB4_HUMAN;.	H	60	ENSP00000321388:Y60H;ENSP00000397070:Y60H	ENSP00000321388:Y60H	Y	+	1	0	ASB4	94953397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.860000	0.75473	2.266000	0.75297	0.529000	0.55759	TAT		0.323	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		19	83	0	0	0	1	0	19	83				
PIGS	94005	broad.mit.edu	37	17	26897899	26897899	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:26897899A>G	ENST00000308360.7	-	3	632	c.257T>C	c.(256-258)gTt>gCt	p.V86A	PIGS_ENST00000543734.1_Missense_Mutation_p.V25A|PIGS_ENST00000395346.2_Missense_Mutation_p.V78A|RP11-192H23.5_ENST00000585189.1_RNA	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	86					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TTCATGCACAACGGTGAAGGG	0.562																																						ENST00000308360.7																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(256-258)gTt>gCt		phosphatidylinositol glycan anchor biosynthesis, class S							114.0	108.0	110.0					17																	26897899		2203	4300	6503	SO:0001583	missense	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26897899A>G		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.257T>C	17.37:g.26897899A>G	ENSP00000309430:p.Val86Ala					PIGS_ENST00000543734.1_Missense_Mutation_p.V25A|PIGS_ENST00000395346.2_Missense_Mutation_p.V78A	p.V86A	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN			3	632	-	Lung NSC(42;0.00431)		86					Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	c.257T>C	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	A	7.926	0.739623	0.15642	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.51817	0.69;0.69;0.69	5.01	3.86	0.44501	.	0.409870	0.26032	N	0.026750	T	0.30230	0.0758	L	0.34521	1.04	0.28399	N	0.918721	B;B	0.24651	0.108;0.088	B;B	0.27076	0.076;0.046	T	0.12993	-1.0526	10	0.13108	T	0.6	-14.7308	5.0131	0.14322	0.5899:0.1579:0.0:0.2521	.	86;78	Q96S52;Q96S52-2	PIGS_HUMAN;.	A	78;86;25	ENSP00000378755:V78A;ENSP00000309430:V86A;ENSP00000438447:V25A	ENSP00000309430:V86A	V	-	2	0	PIGS	23922026	0.997000	0.39634	1.000000	0.80357	0.979000	0.70002	2.272000	0.43373	1.893000	0.54813	0.260000	0.18958	GTT		0.562	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		35	113	0	0	0	1	0	35	113				
UGT2B10	7365	broad.mit.edu	37	4	69693187	69693187	+	Missense_Mutation	SNP	G	G	A	rs71615102		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:69693187G>A	ENST00000265403.7	+	5	1255	c.1228G>A	c.(1228-1230)Gca>Aca	p.A410T	UGT2B10_ENST00000458688.2_Missense_Mutation_p.A326T	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	410					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GGCCAAGGGAGCAGCTGTTAG	0.423																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(1228-1230)Gca>Aca		UDP glucuronosyltransferase 2 family, polypeptide B10							233.0	252.0	245.0					4																	69693187		1511	2709	4220	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69693187G>A	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1228G>A	4.37:g.69693187G>A	ENSP00000265403:p.Ala410Thr					UGT2B10_ENST00000458688.2_Missense_Mutation_p.A326T	p.A410T	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			5	1255	+			410					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.1228G>A		.	.	.	.	.	.	.	.	.	.	g	3.985	-0.005599	0.07773	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.68903	-0.36;-0.36	2.25	1.39	0.22231	.	0.348194	0.25299	N	0.031667	T	0.63988	0.2558	M	0.80982	2.52	0.22842	N	0.998668	B;B	0.27192	0.097;0.171	B;B	0.32022	0.139;0.074	T	0.60393	-0.7272	10	0.66056	D	0.02	.	4.5133	0.11923	0.3401:0.0:0.6599:0.0	.	326;410	B4DPP1;P36537	.;UDB10_HUMAN	T	410;326	ENSP00000265403:A410T;ENSP00000413420:A326T	ENSP00000265403:A410T	A	+	1	0	UGT2B10	69727776	0.997000	0.39634	0.427000	0.26684	0.004000	0.04260	1.781000	0.38644	0.167000	0.19631	-1.207000	0.01640	GCA		0.423	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		7	191	0	0	0	1	0	7	191				
C11orf68	83638	broad.mit.edu	37	11	65685199	65685199	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:65685199G>A	ENST00000530188.1	-	1	632	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	DRAP1_ENST00000532933.1_5'Flank|DRAP1_ENST00000527119.1_5'Flank|C11orf68_ENST00000449692.3_Missense_Mutation_p.R204C|C11orf68_ENST00000438576.2_Missense_Mutation_p.R205C|DRAP1_ENST00000312515.2_5'Flank|DRAP1_ENST00000376991.2_5'Flank			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	163							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		TCCTTGGCACGTGGGCTCACC	0.642																																						ENST00000438576.2																			0				large_intestine(1)|lung(3)	4						c.(613-615)Cgt>Tgt		chromosome 11 open reading frame 68							43.0	42.0	42.0					11																	65685199		2201	4296	6497	SO:0001583	missense	83638							g.chr11:65685199G>A	AF073483	CCDS8122.2, CCDS44652.1	11q13.1	2012-08-09			ENSG00000175573	ENSG00000175573			28801	protein-coding gene	gene with protein product	"""basophilic leukemia-expressed protein"""					16511166	Standard	NM_031450		Approved	P5326, BLES03	uc001ogi.3	Q9H3H3	OTTHUMG00000157153	ENST00000530188.1:c.487C>T	11.37:g.65685199G>A	ENSP00000433914:p.Arg163Cys					C11orf68_ENST00000449692.3_Missense_Mutation_p.R204C|C11orf68_ENST00000530188.1_Missense_Mutation_p.R163C	p.R205C			Q9H3H3	CK068_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	2	698	-			163					J3KQG9|Q9BT13	Missense_Mutation	SNP	ENST00000530188.1	37	c.613C>T		.	.	.	.	.	.	.	.	.	.	G	20.7	4.028482	0.75390	.	.	ENSG00000175573	ENST00000438576;ENST00000449692;ENST00000530188	T;T;T	0.47528	0.84;0.84;0.84	4.72	4.72	0.59763	Translation Initiation factor eIF- 4e-like  domain (2);	0.593947	0.16686	N	0.203729	T	0.51686	0.1689	L	0.49126	1.545	0.44937	D	0.997955	D;D	0.89917	1.0;1.0	P;P	0.54856	0.65;0.762	T	0.43556	-0.9384	10	0.33940	T	0.23	-20.7243	9.2632	0.37625	0.099:0.0:0.901:0.0	.	204;163	Q9H3H3-2;Q9H3H3	.;CK068_HUMAN	C	205;204;163	ENSP00000398350:R205C;ENSP00000409681:R204C;ENSP00000433914:R163C	ENSP00000398350:R205C	R	-	1	0	C11orf68	65441775	0.854000	0.29725	0.998000	0.56505	0.943000	0.58893	2.089000	0.41672	2.345000	0.79718	0.462000	0.41574	CGT		0.642	C11orf68-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000391173.1	NM_031450		19	25	0	0	0	1	0	19	25				
SRRM2	23524	broad.mit.edu	37	16	2816519	2816519	+	Missense_Mutation	SNP	G	G	A	rs138447860	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2816519G>A	ENST00000301740.8	+	11	6539	c.5990G>A	c.(5989-5991)cGc>cAc	p.R1997H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1997	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCTCGATCTCGCACATCTCCA	0.577													G|||	10	0.00199681	0.0	0.0043	5008	,	,		17504	0.0		0.007	False		,,,				2504	0.0					ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(5989-5991)cGc>cAc		serine/arginine repetitive matrix 2		G	HIS/ARG	3,4393	6.2+/-15.9	0,3,2195	71.0	75.0	74.0		5990	5.3	1.0	16	dbSNP_134	74	50,8550	32.3+/-84.9	0,50,4250	yes	missense	SRRM2	NM_016333.3	29	0,53,6445	AA,AG,GG		0.5814,0.0682,0.4078	probably-damaging	1997/2753	2816519	53,12943	2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2816519G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5990G>A	16.37:g.2816519G>A	ENSP00000301740:p.Arg1997His						p.R1997H	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	6539	+			1997			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.5990G>A	CCDS32373.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	G	11.77	1.736455	0.30774	6.82E-4	0.005814	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.24908	1.83	5.26	5.26	0.73747	.	0.000000	0.53938	D	0.000043	T	0.23572	0.0570	N	0.08118	0	0.35761	D	0.820188	D	0.76494	0.999	D	0.69654	0.965	T	0.48198	-0.9056	10	0.62326	D	0.03	-6.3676	16.354	0.83228	0.0:0.0:1.0:0.0	.	1997	Q9UQ35	SRRM2_HUMAN	H	1997;1997;1249	ENSP00000301740:R1997H	ENSP00000301740:R1997H	R	+	2	0	SRRM2	2756520	0.967000	0.33354	0.988000	0.46212	0.988000	0.76386	3.451000	0.52964	2.466000	0.83321	0.650000	0.86243	CGC		0.577	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			4	103	0	0	0	1	0	4	103				
STXBP2	6813	broad.mit.edu	37	19	7709636	7709636	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:7709636A>G	ENST00000221283.5	+	14	1275	c.1244A>G	c.(1243-1245)aAt>aGt	p.N415S	STXBP2_ENST00000441779.2_Missense_Mutation_p.N426S|STXBP2_ENST00000414284.2_Missense_Mutation_p.N412S|STXBP2_ENST00000602355.1_5'Flank	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	415					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTCCTTCGGAATGGTGGGTGG	0.607																																						ENST00000441779.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1276-1278)aAt>aGt		syntaxin binding protein 2							55.0	44.0	48.0					19																	7709636		2203	4299	6502	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7709636A>G	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1244A>G	19.37:g.7709636A>G	ENSP00000221283:p.Asn415Ser					STXBP2_ENST00000414284.2_Missense_Mutation_p.N412S|STXBP2_ENST00000221283.5_Missense_Mutation_p.N415S	p.N426S	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN			14	1314	+			415					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.1277A>G	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.753753	0.69648	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.80393	-1.37;-1.37;-1.37	4.02	3.0	0.34707	.	0.203801	0.41938	D	0.000793	D	0.82540	0.5059	M	0.66297	2.02	0.46317	D	0.99898	P;P;B;P;P	0.50156	0.932;0.932;0.11;0.917;0.932	P;P;B;P;P	0.53649	0.731;0.731;0.292;0.611;0.731	T	0.81245	-0.1020	10	0.72032	D	0.01	-0.2055	7.4385	0.27169	0.894:0.0:0.106:0.0	.	426;426;381;412;415	E7EQD5;B4E175;B4DY46;Q15833-2;Q15833	.;.;.;.;STXB2_HUMAN	S	415;412;426;415	ENSP00000221283:N415S;ENSP00000409471:N412S;ENSP00000413606:N426S	ENSP00000221283:N415S	N	+	2	0	STXBP2	7615636	1.000000	0.71417	0.081000	0.20488	0.060000	0.15804	8.661000	0.91125	0.615000	0.30124	0.482000	0.46254	AAT		0.607	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		22	62	0	0	0	1	0	22	62				
KNDC1	85442	broad.mit.edu	37	10	135012647	135012647	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:135012647G>A	ENST00000304613.3	+	14	2656	c.2635G>A	c.(2635-2637)Gtg>Atg	p.V879M	KNDC1_ENST00000368572.2_Missense_Mutation_p.V879M|KNDC1_ENST00000368571.2_Missense_Mutation_p.V814M			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	879	Pro-rich.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCTGCCCTGCGTGGATGCCTC	0.692																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(2635-2637)Gtg>Atg		kinase non-catalytic C-lobe domain (KIND) containing 1							9.0	9.0	9.0					10																	135012647		2162	4229	6391	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135012647G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2635G>A	10.37:g.135012647G>A	ENSP00000304437:p.Val879Met					KNDC1_ENST00000368571.2_Missense_Mutation_p.V814M|KNDC1_ENST00000368572.2_Missense_Mutation_p.V879M	p.V879M			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	14	2656	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	879			Pro-rich.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.2635G>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	7.990	0.753072	0.15778	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.20200	2.59;2.59;2.09	3.65	1.5	0.22942	.	1.006320	0.08011	U	0.990315	T	0.34890	0.0913	L	0.47716	1.5	0.09310	N	1	D;D;D	0.89917	1.0;0.969;0.968	D;P;B	0.67382	0.951;0.541;0.405	T	0.17776	-1.0358	10	0.72032	D	0.01	.	6.6448	0.22929	0.0:0.1942:0.6074:0.1984	.	879;814;879	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	M	879;879;814	ENSP00000304437:V879M;ENSP00000357561:V879M;ENSP00000357560:V814M	ENSP00000304437:V879M	V	+	1	0	KNDC1	134862637	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	-0.526000	0.06207	0.620000	0.30215	0.306000	0.20318	GTG		0.692	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		3	10	0	0	0	1	0	3	10				
NFATC3	4775	broad.mit.edu	37	16	68200872	68200872	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:68200872T>C	ENST00000346183.3	+	5	1752	c.1728T>C	c.(1726-1728)agT>agC	p.S576S	NFATC3_ENST00000575270.1_Silent_p.S576S|NFATC3_ENST00000349223.5_Silent_p.S576S|NFATC3_ENST00000329524.4_Silent_p.S576S|NFATC3_ENST00000535127.2_3'UTR	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	576	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	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)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CACAGCCCAGTGGAAAAGTCC	0.398																																						ENST00000349223.5																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44						c.(1726-1728)agT>agC		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							227.0	215.0	219.0					16																	68200872		2198	4300	6498	SO:0001819	synonymous_variant	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68200872T>C	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1728T>C	16.37:g.68200872T>C						NFATC3_ENST00000329524.4_Silent_p.S576S|NFATC3_ENST00000575270.1_Silent_p.S576S|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.S576S	p.S576S	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	5	1952	+		Ovarian(137;0.0563)	576			RHD.		O75211|Q14516|Q99840|Q99841|Q99842	Silent	SNP	ENST00000346183.3	37	c.1728T>C	CCDS10860.1																																																																																				0.398	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		29	110	0	0	0	1	0	29	110				
RAD18	56852	broad.mit.edu	37	3	8990250	8990250	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:8990250G>A	ENST00000264926.2	-	3	254	c.138C>T	c.(136-138)tgC>tgT	p.C46C	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	46					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TACAGAGAGAGCAGTCTGCAA	0.333								Rad6 pathway																														ENST00000264926.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(136-138)tgC>tgT	Rad6 pathway	RAD18 homolog (S. cerevisiae)							84.0	94.0	90.0					3																	8990250		2203	4299	6502	SO:0001819	synonymous_variant	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8990250G>A		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.138C>T	3.37:g.8990250G>A						RAD18_ENST00000495087.1_5'UTR	p.C46C	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	3	254	-			46					Q58F55|Q9NRT6	Silent	SNP	ENST00000264926.2	37	c.138C>T	CCDS2571.1																																																																																				0.333	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		17	138	0	0	0	1	0	17	138				
RBM12B	389677	broad.mit.edu	37	8	94746046	94746046	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:94746046A>G	ENST00000399300.2	-	3	2806	c.2593T>C	c.(2593-2595)Ttt>Ctt	p.F865L	RBM12B_ENST00000517700.1_Missense_Mutation_p.F745L|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	865							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGAGGTCTAAAATTGTCAGGA	0.498																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(2593-2595)Ttt>Ctt		RNA binding motif protein 12B							90.0	93.0	92.0					8																	94746046		1819	4078	5897	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94746046A>G		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2593T>C	8.37:g.94746046A>G	ENSP00000382239:p.Phe865Leu					RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Missense_Mutation_p.F745L|RBM12B_ENST00000520961.1_Intron	p.F865L	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2806	-	Breast(36;4.14e-07)		865					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.2593T>C	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.628214	0.66901	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.06608	3.28;3.29	5.95	4.76	0.60689	.	.	.	.	.	T	0.05410	0.0143	L	0.27053	0.805	0.19945	N	0.999942	B	0.29188	0.236	B	0.20767	0.031	T	0.37979	-0.9682	9	0.23302	T	0.38	0.3806	13.2622	0.60111	0.8676:0.1324:0.0:0.0	.	865	Q8IXT5	RB12B_HUMAN	L	865;745	ENSP00000382239:F865L;ENSP00000427729:F745L	ENSP00000382239:F865L	F	-	1	0	RBM12B	94815222	0.874000	0.30092	0.016000	0.15963	0.989000	0.77384	1.921000	0.40035	1.034000	0.39945	0.460000	0.39030	TTT		0.498	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		17	267	0	0	0	1	0	17	267				
MKNK2	2872	broad.mit.edu	37	19	2043156	2043156	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:2043156G>A	ENST00000591601.1	-	6	495	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C	MKNK2_ENST00000588014.1_5'Flank|MKNK2_ENST00000591588.1_5'Flank|MKNK2_ENST00000541165.1_Missense_Mutation_p.R23C|MKNK2_ENST00000250896.3_Missense_Mutation_p.R154C|MKNK2_ENST00000591142.1_5'Flank|MKNK2_ENST00000309340.7_Missense_Mutation_p.R154C			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	154	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTAGAAGCGGTCCTCCTCC	0.632																																						ENST00000250896.3																			0				breast(1)|kidney(3)|large_intestine(3)|lung(3)	10						c.(460-462)Cgc>Tgc		MAP kinase interacting serine/threonine kinase 2							146.0	145.0	145.0					19																	2043156		2203	4300	6503	SO:0001583	missense	2872				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr19:2043156G>A	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.460C>T	19.37:g.2043156G>A	ENSP00000467811:p.Arg154Cys					MKNK2_ENST00000541165.1_Missense_Mutation_p.R23C|MKNK2_ENST00000309340.7_Missense_Mutation_p.R154C|MKNK2_ENST00000591601.1_Missense_Mutation_p.R154C	p.R154C	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	704	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	154			Protein kinase.		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Missense_Mutation	SNP	ENST00000591601.1	37	c.460C>T	CCDS12080.1	.	.	.	.	.	.	.	.	.	.	g	14.89	2.669523	0.47677	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000541165	T;T;T	0.66815	-0.23;-0.23;-0.23	4.37	3.25	0.37280	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056582	0.64402	D	0.000003	T	0.48840	0.1522	N	0.17838	0.53	0.46203	D	0.998921	B;B	0.28350	0.208;0.093	B;B	0.27170	0.077;0.048	T	0.53394	-0.8445	10	0.52906	T	0.07	-8.7839	10.2201	0.43192	0.0:0.0:0.6956:0.3044	.	154;154	Q9HBH9;Q9HBH9-2	MKNK2_HUMAN;.	C	154;154;23	ENSP00000309485:R154C;ENSP00000250896:R154C;ENSP00000438904:R23C	ENSP00000250896:R154C	R	-	1	0	MKNK2	1994156	0.234000	0.23783	0.986000	0.45419	0.986000	0.74619	1.570000	0.36439	2.133000	0.65898	0.556000	0.70494	CGC		0.632	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		72	205	0	0	0	1	0	72	205				
MCEMP1	199675	broad.mit.edu	37	19	7743445	7743445	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:7743445A>G	ENST00000333598.3	+	5	896	c.442A>G	c.(442-444)Acc>Gcc	p.T148A	CTD-3214H19.16_ENST00000597959.1_Missense_Mutation_p.H20R|TRAPPC5_ENST00000317378.5_5'Flank|TRAPPC5_ENST00000426877.2_5'Flank|C19orf59_ENST00000597445.1_Missense_Mutation_p.T105A|TRAPPC5_ENST00000596148.1_5'Flank	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN		148						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						GCAGAGCATCACCATGGTCAG	0.512											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333598.3																			0				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						c.(442-444)Acc>Gcc		chromosome 19 open reading frame 59							138.0	134.0	135.0					19																	7743445		2203	4300	6503	SO:0001583	missense	199675					integral to membrane		g.chr19:7743445A>G																												ENST00000333598.3:c.442A>G	19.37:g.7743445A>G	ENSP00000329920:p.Thr148Ala		OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	CTD-3214H19.16_ENST00000597959.1_Missense_Mutation_p.H20R|C19orf59_ENST00000597445.1_Missense_Mutation_p.T105A	p.T148A	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN			5	896	+			148					Q8IX20	Missense_Mutation	SNP	ENST00000333598.3	37	c.442A>G	CCDS12183.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.626496	0.00813	.	.	ENSG00000183019	ENST00000333598	T	0.22743	1.94	3.28	-6.56	0.01848	.	3.447510	0.00950	N	0.002957	T	0.09069	0.0224	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.31336	-0.9947	10	0.07482	T	0.82	4.0923	3.4503	0.07495	0.1711:0.2011:0.5278:0.1	.	148	Q8IX19	MCEM1_HUMAN	A	148	ENSP00000329920:T148A	ENSP00000329920:T148A	T	+	1	0	C19orf59	7649445	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.354000	0.00500	-3.141000	0.00233	-0.912000	0.02778	ACC		0.512	C19orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461248.1			15	58	0	0	0	1	0	15	58				
PAQR9	344838	broad.mit.edu	37	3	142681980	142681980	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:142681980G>A	ENST00000340634.3	-	1	198	c.199C>T	c.(199-201)Ccg>Tcg	p.P67S	RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	67						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GCCGTGCACGGCAGACGCCGG	0.657																																						ENST00000340634.3																			0				endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						c.(199-201)Ccg>Tcg		progestin and adipoQ receptor family member IX							56.0	56.0	56.0					3																	142681980		2203	4300	6503	SO:0001583	missense	344838					integral to membrane	receptor activity	g.chr3:142681980G>A	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.199C>T	3.37:g.142681980G>A	ENSP00000341564:p.Pro67Ser					RP11-372E1.6_ENST00000594095.1_RNA	p.P67S	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN			1	198	-			67					Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	c.199C>T	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	G	8.362	0.833393	0.16820	.	.	ENSG00000188582	ENST00000340634	T	0.20332	2.08	4.43	4.43	0.53597	.	0.154291	0.42821	D	0.000642	T	0.12646	0.0307	N	0.16166	0.38	0.30753	N	0.74496	B	0.09022	0.002	B	0.12837	0.008	T	0.05835	-1.0861	10	0.07990	T	0.79	-38.5779	17.0163	0.86420	0.0:0.0:1.0:0.0	.	67	Q6ZVX9	PAQR9_HUMAN	S	67	ENSP00000341564:P67S	ENSP00000341564:P67S	P	-	1	0	PAQR9	144164670	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.383000	0.97214	2.171000	0.68590	0.563000	0.77884	CCG		0.657	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		12	21	0	0	0	1	0	12	21				
EBF1	1879	broad.mit.edu	37	5	158139231	158139231	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:158139231C>T	ENST00000313708.6	-	14	1762	c.1480G>A	c.(1480-1482)Gcc>Acc	p.A494T	EBF1_ENST00000380654.4_Missense_Mutation_p.A463T|EBF1_ENST00000517373.1_Intron|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	494	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACATTGCGGCAGAGCCGTAT	0.577			T	HMGA2	lipoma																																	ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1480-1482)Gcc>Acc		early B-cell factor 1							101.0	73.0	82.0					5																	158139231		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158139231C>T	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1480G>A	5.37:g.158139231C>T	ENSP00000322898:p.Ala494Thr					EBF1_ENST00000380654.4_Missense_Mutation_p.A463T|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Intron	p.A494T	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		14	1762	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	494			Pro/Ser/Thr-rich.		Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.1480G>A	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395070	0.42512	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654	T;T	0.43294	0.95;0.95	4.92	4.92	0.64577	.	0.180474	0.49305	D	0.000158	T	0.19208	0.0461	N	0.03016	-0.435	0.80722	D	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.10450	0.0;0.002;0.002;0.005	T	0.11299	-1.0593	10	0.19147	T	0.46	-6.8904	11.9334	0.52860	0.0:0.92:0.0:0.08	.	494;481;494;463	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	T	494;494;463	ENSP00000322898:A494T;ENSP00000370029:A463T	ENSP00000322898:A494T	A	-	1	0	EBF1	158071809	0.979000	0.34478	0.471000	0.27229	0.947000	0.59692	2.386000	0.44380	2.428000	0.82296	0.650000	0.86243	GCC		0.577	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		7	38	0	0	0	1	0	7	38				
LRIG2	9860	broad.mit.edu	37	1	113655205	113655205	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:113655205T>C	ENST00000361127.5	+	14	2101	c.1903T>C	c.(1903-1905)Tgg>Cgg	p.W635R	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	635	Ig-like C2-type 2.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TCAGATTTCCTGGCAGAAAGA	0.498																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(1903-1905)Tgg>Cgg		leucine-rich repeats and immunoglobulin-like domains 2							140.0	129.0	132.0					1																	113655205		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113655205T>C	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1903T>C	1.37:g.113655205T>C	ENSP00000355396:p.Trp635Arg					LRIG2_ENST00000492207.1_3'UTR	p.W635R	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	14	2101	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	635			Ig-like C2-type 2.		Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.1903T>C	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	t	25.2	4.612646	0.87258	.	.	ENSG00000198799	ENST00000361127	D	0.96300	-3.97	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99070	0.9681	H	0.99487	4.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98962	1.0798	10	0.87932	D	0	.	15.5171	0.75833	0.0:0.0:0.0:1.0	.	635	O94898	LRIG2_HUMAN	R	635	ENSP00000355396:W635R	ENSP00000355396:W635R	W	+	1	0	LRIG2	113456728	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.070000	0.61991	0.482000	0.46254	TGG		0.498	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		38	125	0	0	0	1	0	38	125				
TMEM33	55161	broad.mit.edu	37	4	41946932	41946932	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:41946932T>C	ENST00000504986.1	+	5	884	c.519T>C	c.(517-519)ttT>ttC	p.F173F	TMEM33_ENST00000325094.5_Silent_p.F173F|TMEM33_ENST00000513702.1_Silent_p.F173F	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	173						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						CGACAGTTTTTATGCTTTTTA	0.323																																						ENST00000504986.1																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(517-519)ttT>ttC		transmembrane protein 33							80.0	83.0	82.0					4																	41946932		2202	4300	6502	SO:0001819	synonymous_variant	55161					integral to membrane|melanosome	protein binding	g.chr4:41946932T>C	BC000948	CCDS3464.1	4p14	2008-02-05			ENSG00000109133	ENSG00000109133			25541	protein-coding gene	gene with protein product						12477932	Standard	NM_018126		Approved	FLJ10525	uc003gwi.2	P57088	OTTHUMG00000099381	ENST00000504986.1:c.519T>C	4.37:g.41946932T>C						TMEM33_ENST00000325094.5_Silent_p.F173F|TMEM33_ENST00000513702.1_Silent_p.F173F	p.F173F	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN			5	884	+			173					B3KSS8|Q9H953	Silent	SNP	ENST00000504986.1	37	c.519T>C	CCDS3464.1	.	.	.	.	.	.	.	.	.	.	T	9.395	1.076583	0.20227	.	.	ENSG00000109133	ENST00000513558	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	T	0.61261	0.2333	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60393	-0.7272	4	.	.	.	-14.1446	9.9387	0.41567	0.0:0.0758:0.0:0.9242	.	.	.	.	S	107	.	.	L	+	2	0	TMEM33	41641689	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.731000	0.38135	2.080000	0.62538	0.533000	0.62120	TTA		0.323	TMEM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216834.2	NM_018126		15	59	0	0	0	1	0	15	59				
TJP1	7082	broad.mit.edu	37	15	30058575	30058575	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:30058575T>C	ENST00000346128.6	-	5	957	c.483A>G	c.(481-483)gcA>gcG	p.A161A	TJP1_ENST00000400011.2_Silent_p.A165A|TJP1_ENST00000545208.2_Silent_p.A161A|TJP1_ENST00000356107.6_Silent_p.A161A|TJP1_ENST00000495972.2_Silent_p.A161A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	161					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCTCTCTACTTGCACTTCTAT	0.498																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(481-483)gcA>gcG		tight junction protein 1							134.0	137.0	136.0					15																	30058575		2007	4173	6180	SO:0001819	synonymous_variant	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30058575T>C		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.483A>G	15.37:g.30058575T>C						TJP1_ENST00000545208.2_Silent_p.A161A|TJP1_ENST00000356107.6_Silent_p.A161A|TJP1_ENST00000495972.2_Silent_p.A161A|TJP1_ENST00000400011.2_Silent_p.A165A	p.A161A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	5	957	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	161					B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	37	c.483A>G	CCDS42007.1																																																																																				0.498	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		20	121	0	0	0	1	0	20	121				
EPAS1	2034	broad.mit.edu	37	2	46587855	46587855	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:46587855A>G	ENST00000263734.3	+	5	1043	c.533A>G	c.(532-534)aAc>aGc	p.N178S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	178					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACGGTCACCAACAGAGGCCGT	0.552																																						ENST00000263734.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(532-534)aAc>aGc		endothelial PAS domain protein 1							84.0	76.0	79.0					2																	46587855		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46587855A>G	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.533A>G	2.37:g.46587855A>G	ENSP00000263734:p.Asn178Ser						p.N178S	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		5	1043	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	178					Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.533A>G	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	A	6.392	0.440389	0.12104	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	T;T	0.21191	2.02;2.02	4.7	4.7	0.59300	.	0.139078	0.64402	D	0.000006	T	0.11367	0.0277	N	0.04335	-0.225	0.49483	D	0.999792	P	0.41498	0.752	P	0.44772	0.46	T	0.08249	-1.0731	10	0.02654	T	1	.	14.3841	0.66931	1.0:0.0:0.0:0.0	.	178	Q99814	EPAS1_HUMAN	S	178	ENSP00000406137:N178S;ENSP00000263734:N178S	ENSP00000263734:N178S	N	+	2	0	EPAS1	46441359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.911000	0.48774	1.998000	0.58463	0.454000	0.30748	AAC		0.552	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		19	65	0	0	0	1	0	19	65				
TAS2R41	259287	broad.mit.edu	37	7	143175750	143175750	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:143175750A>G	ENST00000408916.1	+	1	785	c.785A>G	c.(784-786)aAc>aGc	p.N262S	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	262					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TCCATGCAGAACGACTTTTAC	0.473																																						ENST00000408916.1																			0				endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18						c.(784-786)aAc>aGc		taste receptor, type 2, member 41							144.0	141.0	142.0					7																	143175750		2046	4192	6238	SO:0001583	missense	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175750A>G	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.785A>G	7.37:g.143175750A>G	ENSP00000386201:p.Asn262Ser					EPHA1-AS1_ENST00000429289.1_RNA	p.N262S	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN			1	785	+	Melanoma(164;0.15)		262					P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	c.785A>G	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.130521	0.00338	.	.	ENSG00000221855	ENST00000408916	T	0.00737	5.76	6.0	2.13	0.27403	.	0.664574	0.12881	N	0.431418	T	0.00468	0.0015	N	0.04148	-0.265	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.42498	-0.9448	10	0.10636	T	0.68	.	8.0724	0.30697	0.4277:0.0:0.5723:0.0	.	262	P59536	T2R41_HUMAN	S	262	ENSP00000386201:N262S	ENSP00000386201:N262S	N	+	2	0	TAS2R41	142885872	0.018000	0.18449	0.010000	0.14722	0.001000	0.01503	0.445000	0.21677	0.403000	0.25479	-0.242000	0.12053	AAC		0.473	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			29	89	0	0	0	1	0	29	89				
TMUB2	79089	broad.mit.edu	37	17	42271917	42271917	+	IGR	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:42271917G>C	ENST00000587989.1	+	0	1969				ATXN7L3_ENST00000593073.1_5'UTR|ATXN7L3_ENST00000389384.4_Missense_Mutation_p.S288C|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.S295C			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2							integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ACTCGTCTTGGAGGAGCCTGA	0.582																																						ENST00000389384.4																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						c.(862-864)tCc>tGc		ataxin 7-like 3							37.0	39.0	38.0					17																	42271917		1939	4135	6074	SO:0001628	intergenic_variant	56970				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding	g.chr17:42271917G>C		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4			17.37:g.42271917G>C						ATXN7L3_ENST00000593073.1_5'UTR|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.S295C	p.S288C	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	11	1171	-		Breast(137;0.00765)|Prostate(33;0.0181)	288					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	c.863C>G	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733354	0.48939	.	.	ENSG00000087152	ENST00000454077;ENST00000389384;ENST00000541672	.	.	.	5.05	3.07	0.35406	.	0.058726	0.64402	D	0.000001	T	0.43634	0.1256	L	0.29908	0.895	0.47308	D	0.999389	P;P	0.46457	0.806;0.878	B;P	0.45195	0.282;0.473	T	0.40664	-0.9551	9	0.66056	D	0.02	.	10.7	0.45922	0.1537:0.0:0.8463:0.0	.	288;295	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	C	295;288;70	.	ENSP00000374035:S288C	S	-	2	0	ATXN7L3	39627443	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	8.824000	0.92023	0.742000	0.32697	-0.793000	0.03317	TCC		0.582	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		11	34	0	0	0	1	0	11	34				
MSH5	4439	broad.mit.edu	37	6	31729604	31729604	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:31729604A>G	ENST00000375755.3	+	23	2477	c.2191A>G	c.(2191-2193)Acc>Gcc	p.T731A	MSH5_ENST00000375703.3_Missense_Mutation_p.T732A|MSH5_ENST00000431848.2_Missense_Mutation_p.T430A|MSH5-SAPCD1_ENST00000491552.1_3'UTR|MSH5_ENST00000375742.3_Missense_Mutation_p.T748A|SAPCD1_ENST00000425424.1_5'Flank|MSH5_ENST00000375750.3_Missense_Mutation_p.T731A|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.T748A|MSH5_ENST00000375740.3_Missense_Mutation_p.T749A|SAPCD1-AS1_ENST00000419679.1_RNA|MSH5_ENST00000534153.4_Missense_Mutation_p.T748A|MSH5_ENST00000395853.1_Missense_Mutation_p.T405A|SAPCD1_ENST00000415669.2_5'Flank	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	731					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						GACCATGGAGACCTGTGAGGA	0.517								Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000493662.2																			0											c.(2242-2244)Acc>Gcc									237.0	255.0	248.0					6																	31729604		1510	2709	4219	SO:0001583	missense	100532732							g.chr6:31729604A>G	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.2191A>G	6.37:g.31729604A>G	ENSP00000364908:p.Thr731Ala					MSH5_ENST00000375755.3_Missense_Mutation_p.T731A|MSH5-SAPCD1_ENST00000491552.1_3'UTR|MSH5_ENST00000431848.2_Missense_Mutation_p.T430A|MSH5_ENST00000375703.3_Missense_Mutation_p.T732A|MSH5_ENST00000534153.4_Missense_Mutation_p.T748A|MSH5_ENST00000375740.3_Missense_Mutation_p.T749A|MSH5_ENST00000375742.3_Missense_Mutation_p.T748A|MSH5_ENST00000375750.3_Missense_Mutation_p.T731A|MSH5_ENST00000395853.1_Missense_Mutation_p.T405A	p.T748A							23	2298	+								B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	c.2242A>G	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128496	0.77549	.	.	ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000204410;ENSG00000255152	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000431848;ENST00000395853;ENST00000491552	D;D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.92	5.92	0.95590	DNA mismatch repair protein MutS, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.70544	0.3236	N	0.04260	-0.245	0.36200	D	0.850695	D;D;P;B;D	0.62365	0.978;0.981;0.938;0.057;0.991	P;P;P;B;D	0.63877	0.829;0.842;0.703;0.113;0.919	T	0.79478	-0.1787	9	0.52906	T	0.07	-22.0267	9.5872	0.39524	0.8438:0.0:0.0:0.1562	.	416;749;731;732;748	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	A	731;748;731;748;732;749;430;405;117	ENSP00000364908:T731A;ENSP00000364894:T748A;ENSP00000364903:T731A;ENSP00000431693:T748A;ENSP00000364855:T732A;ENSP00000364892:T749A;ENSP00000416784:T430A;ENSP00000379194:T405A	ENSP00000364855:T732A	T	+	1	0	MSH5;MSH5-C6orf26	31837583	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.340000	0.59328	2.266000	0.75297	0.533000	0.62120	ACC		0.517	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			78	213	0	0	0	1	0	78	213				
GRTP1	79774	broad.mit.edu	37	13	113980283	113980283	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:113980283A>G	ENST00000375431.4	-	6	760	c.686T>C	c.(685-687)cTg>cCg	p.L229P	GRTP1_ENST00000326039.3_Missense_Mutation_p.L151P|GRTP1_ENST00000375430.4_Missense_Mutation_p.L229P	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	229	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	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;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GCGGGACACCAGCAGCGTCCA	0.697																																						ENST00000375430.4																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14						c.(685-687)cTg>cCg		growth hormone regulated TBC protein 1							63.0	68.0	66.0					13																	113980283		2203	4299	6502	SO:0001583	missense	79774					intracellular	Rab GTPase activator activity	g.chr13:113980283A>G	AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.686T>C	13.37:g.113980283A>G	ENSP00000364580:p.Leu229Pro					GRTP1_ENST00000326039.3_Missense_Mutation_p.L151P|GRTP1_ENST00000375431.4_Missense_Mutation_p.L229P	p.L229P			Q5TC63	GRTP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		6	732	-	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;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	229			Rab-GAP TBC.		B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Missense_Mutation	SNP	ENST00000375431.4	37	c.686T>C	CCDS9534.2	.	.	.	.	.	.	.	.	.	.	A	11.96	1.795832	0.31777	.	.	ENSG00000139835	ENST00000375431;ENST00000326039;ENST00000375430	T;T;T	0.22336	1.96;1.96;1.96	4.82	3.64	0.41730	Rab-GAP/TBC domain (4);	0.291643	0.32343	N	0.006230	T	0.28134	0.0694	M	0.83603	2.65	0.58432	D	0.999995	B;B;B	0.16166	0.009;0.016;0.003	B;B;B	0.21151	0.033;0.013;0.015	T	0.05683	-1.0870	10	0.48119	T	0.1	.	10.2127	0.43150	0.9213:0.0:0.0787:0.0	.	229;151;229	B9A6K2;Q5TC63-2;Q5TC63	.;.;GRTP1_HUMAN	P	229;151;229	ENSP00000364580:L229P;ENSP00000321850:L151P;ENSP00000364579:L229P	ENSP00000321850:L151P	L	-	2	0	GRTP1	113028284	1.000000	0.71417	0.227000	0.23927	0.380000	0.30137	8.481000	0.90437	0.693000	0.31634	0.379000	0.24179	CTG		0.697	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045882.5	NM_024719		27	88	0	0	0	1	0	27	88				
NEU4	129807	broad.mit.edu	37	2	242757535	242757535	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:242757535G>A	ENST00000391969.2	+	5	1327	c.616G>A	c.(616-618)Ggc>Agc	p.G206S	NEU4_ENST00000405370.1_Missense_Mutation_p.G206S|NEU4_ENST00000325935.6_Missense_Mutation_p.G219S|NEU4_ENST00000404257.1_Missense_Mutation_p.G218S|NEU4_ENST00000407683.1_Missense_Mutation_p.G206S	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	206					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CGATGACCACGGCCGCACCTG	0.677																																						ENST00000391969.2																			0				breast(1)|lung(10)|prostate(2)|skin(2)	15						c.(616-618)Ggc>Agc		sialidase 4							70.0	46.0	54.0					2																	242757535		2201	4300	6501	SO:0001583	missense	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242757535G>A	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.616G>A	2.37:g.242757535G>A	ENSP00000375830:p.Gly206Ser					NEU4_ENST00000405370.1_Missense_Mutation_p.G206S|NEU4_ENST00000325935.6_Missense_Mutation_p.G219S|NEU4_ENST00000404257.1_Missense_Mutation_p.G218S|NEU4_ENST00000407683.1_Missense_Mutation_p.G206S	p.G206S	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	5	1327	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	206					A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	c.616G>A	CCDS54442.1	.	.	.	.	.	.	.	.	.	.	G	33	5.193861	0.94960	.	.	ENSG00000204099	ENST00000407683;ENST00000405370;ENST00000472793;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000420288	D;D;D;D;D;D	0.99023	-5.34;-5.34;-5.34;-5.34;-5.34;-5.34	4.49	4.49	0.54785	Neuraminidase (2);	0.000000	0.85682	D	0.000000	D	0.99489	0.9818	H	0.94503	3.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98134	1.0432	10	0.87932	D	0	-28.2367	17.1768	0.86844	0.0:0.0:1.0:0.0	.	218;218;206	A8K211;Q8WWR8-2;Q8WWR8	.;.;NEUR4_HUMAN	S	206;206;216;218;206;219;206	ENSP00000385402:G206S;ENSP00000384804:G206S;ENSP00000385149:G218S;ENSP00000375830:G206S;ENSP00000320318:G219S;ENSP00000388707:G206S	ENSP00000320318:G219S	G	+	1	0	NEU4	242406208	1.000000	0.71417	0.248000	0.24265	0.839000	0.47603	8.759000	0.91667	2.039000	0.60335	0.443000	0.29094	GGC		0.677	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		18	21	0	0	0	1	0	18	21				
HPS5	11234	broad.mit.edu	37	11	18332378	18332378	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18332378G>A	ENST00000349215.3	-	5	664	c.387C>T	c.(385-387)ctC>ctT	p.L129L	HPS5_ENST00000396253.3_Silent_p.L15L|HPS5_ENST00000531848.1_Silent_p.L15L|HPS5_ENST00000438420.2_Silent_p.L15L	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	129					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TATCCCAGCAGAGAGCTGTGA	0.428									Hermansky-Pudlak syndrome																													ENST00000396253.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(43-45)ctC>ctT		Hermansky-Pudlak syndrome 5							106.0	102.0	103.0					11																	18332378		2199	4293	6492	SO:0001819	synonymous_variant	11234	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18332378G>A	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.387C>T	11.37:g.18332378G>A						HPS5_ENST00000438420.2_Silent_p.L15L|HPS5_ENST00000531848.1_Silent_p.L15L|HPS5_ENST00000349215.3_Silent_p.L129L	p.L15L	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN			4	507	-			129					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	c.45C>T	CCDS7836.1																																																																																				0.428	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		21	61	0	0	0	1	0	21	61				
ATG2B	55102	broad.mit.edu	37	14	96752283	96752283	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:96752283C>T	ENST00000359933.4	-	42	6939	c.6046G>A	c.(6046-6048)Gct>Act	p.A2016T		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	2016					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGTTCTCGAGCCGCAGTTTCA	0.567																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(6046-6048)Gct>Act		autophagy related 2B							45.0	42.0	43.0					14																	96752283		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96752283C>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.6046G>A	14.37:g.96752283C>T	ENSP00000353010:p.Ala2016Thr						p.A2016T	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	42	6939	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	2016					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.6046G>A	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190572	0.58017	.	.	ENSG00000066739	ENST00000359933	T	0.10382	2.88	5.8	5.8	0.92144	Autophagy-related, C-terminal (1);	0.051687	0.85682	D	0.000000	T	0.09158	0.0226	N	0.12961	0.28	0.54753	D	0.999983	B	0.29253	0.239	B	0.32762	0.152	T	0.38929	-0.9638	10	0.16896	T	0.51	.	20.0706	0.97721	0.0:1.0:0.0:0.0	.	2016	Q96BY7	ATG2B_HUMAN	T	2016	ENSP00000353010:A2016T	ENSP00000353010:A2016T	A	-	1	0	ATG2B	95822036	1.000000	0.71417	0.698000	0.30274	0.709000	0.40893	4.506000	0.60428	2.744000	0.94065	0.655000	0.94253	GCT		0.567	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		8	21	0	0	0	1	0	8	21				
METTL13	51603	broad.mit.edu	37	1	171753286	171753286	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:171753286C>T	ENST00000361735.3	+	2	826	c.560C>T	c.(559-561)gCc>gTc	p.A187V	METTL13_ENST00000362019.3_Missense_Mutation_p.A101V|METTL13_ENST00000367737.5_Intron|METTL13_ENST00000458517.1_Missense_Mutation_p.A186V	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	187							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CACCAAGTGGCCAACAGCCAG	0.587																																						ENST00000361735.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(559-561)gCc>gTc		methyltransferase like 13							56.0	60.0	59.0					1																	171753286		2203	4300	6503	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171753286C>T	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.560C>T	1.37:g.171753286C>T	ENSP00000354920:p.Ala187Val					METTL13_ENST00000458517.1_Missense_Mutation_p.A186V|METTL13_ENST00000367737.5_Intron|METTL13_ENST00000362019.3_Missense_Mutation_p.A101V	p.A187V	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN			2	826	+			187					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.560C>T	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414375	0.25465	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.18	5.18	0.71444	.	0.586313	0.17996	N	0.155051	T	0.07999	0.0200	N	0.04203	-0.255	0.31667	N	0.644851	B;B	0.17038	0.018;0.02	B;B	0.18263	0.021;0.016	T	0.14117	-1.0484	10	0.09590	T	0.72	-35.9047	11.7745	0.51977	0.0:0.9185:0.0:0.0815	.	186;187	B4E2X3;Q8N6R0	.;MTL13_HUMAN	V	186;101;187;104;101	ENSP00000401955:A186V;ENSP00000355393:A101V;ENSP00000354920:A187V;ENSP00000356710:A104V	ENSP00000341732:A101V	A	+	2	0	METTL13	170019909	0.986000	0.35501	0.962000	0.40283	0.998000	0.95712	3.503000	0.53340	2.373000	0.80994	0.655000	0.94253	GCC		0.587	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		31	84	0	0	0	1	0	31	84				
OR6T1	219874	broad.mit.edu	37	11	123814022	123814022	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:123814022T>C	ENST00000321252.2	-	1	558	c.524A>G	c.(523-525)gAc>gGc	p.D175G		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AAAGAAGTGGTCAATACCATT	0.557																																						ENST00000321252.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(523-525)gAc>gGc		olfactory receptor, family 6, subfamily T, member 1							78.0	66.0	70.0					11																	123814022		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123814022T>C	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.524A>G	11.37:g.123814022T>C	ENSP00000325203:p.Asp175Gly						p.D175G	NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	558	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	175					Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.524A>G	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.141196	0.56936	.	.	ENSG00000181499	ENST00000321252	T	0.00169	8.63	3.7	2.53	0.30540	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00300	0.0009	M	0.81112	2.525	0.22610	N	0.998936	B	0.24533	0.105	B	0.35278	0.199	T	0.26985	-1.0087	9	0.66056	D	0.02	-23.0359	7.3234	0.26540	0.1967:0.0:0.0:0.8033	.	175	Q8NGN1	OR6T1_HUMAN	G	175	ENSP00000325203:D175G	ENSP00000325203:D175G	D	-	2	0	OR6T1	123319232	0.029000	0.19370	0.750000	0.31169	0.965000	0.64279	2.325000	0.43840	0.448000	0.26722	0.460000	0.39030	GAC		0.557	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		25	71	0	0	0	1	0	25	71				
HDAC9	9734	broad.mit.edu	37	7	18833006	18833006	+	Silent	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:18833006C>A	ENST00000432645.2	+	16	2244	c.2244C>A	c.(2242-2244)tcC>tcA	p.S748S	HDAC9_ENST00000401921.1_Silent_p.S707S|HDAC9_ENST00000406451.4_Silent_p.S748S|HDAC9_ENST00000441542.2_Silent_p.S751S	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	748	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TACACTCGTCCGGTGCTGCAC	0.527																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(2242-2244)tcC>tcA		histone deacetylase 9	Valproic Acid(DB00313)						52.0	53.0	53.0					7																	18833006		2139	4255	6394	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18833006C>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2244C>A	7.37:g.18833006C>A						HDAC9_ENST00000441542.2_Silent_p.S751S|HDAC9_ENST00000432645.2_Silent_p.S748S|HDAC9_ENST00000401921.1_Silent_p.S707S	p.S748S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			17	2394	+	all_lung(11;0.187)		748			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	c.2244C>A	CCDS47555.1																																																																																				0.527	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			4	6	1	0	3.59834e-05	1	3.66827e-05	4	6				
TRIM16	10626	broad.mit.edu	37	17	15554474	15554474	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:15554474G>A	ENST00000578237.1	-	6	1305	c.450C>T	c.(448-450)tgC>tgT	p.C150C	RP11-640I15.1_ENST00000584540.1_RNA|RP11-385D13.1_ENST00000455584.2_Silent_p.C150C|TRIM16_ENST00000581224.1_Intron|TRIM16_ENST00000336708.7_Silent_p.C150C|TRIM16_ENST00000416464.2_Intron			O95361	TRI16_HUMAN	tripartite motif containing 16	150					histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		AACAGTCCTGGCAGATGCACT	0.602																																						ENST00000455584.2																			0											c.(448-450)tgC>tgT									124.0	113.0	117.0					17																	15554474		2203	4300	6503	SO:0001819	synonymous_variant	10626							g.chr17:15554474G>A	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.450C>T	17.37:g.15554474G>A						TRIM16_ENST00000336708.7_Silent_p.C150C|TRIM16_ENST00000416464.2_Intron|TRIM16_ENST00000578237.1_Silent_p.C150C|TRIM16_ENST00000581224.1_Intron	p.C150C							1	493	-								Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Silent	SNP	ENST00000578237.1	37	c.450C>T	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	g	11.40	1.626830	0.28978	.	.	ENSG00000251537	ENST00000455584	.	.	.	5.54	0.757	0.18427	.	.	.	.	.	T	0.57725	0.2073	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52525	-0.8564	4	.	.	.	.	9.9177	0.41446	0.343:0.0:0.657:0.0	.	.	.	.	V	165	.	.	A	-	2	0	RP11-385D13.1	15495199	0.966000	0.33281	1.000000	0.80357	0.979000	0.70002	0.165000	0.16564	0.303000	0.22785	0.563000	0.77884	GCC		0.602	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		16	89	0	0	0	1	0	16	89				
ANO2	57101	broad.mit.edu	37	12	6030501	6030501	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:6030501G>T	ENST00000356134.5	-	3	298	c.227C>A	c.(226-228)cCt>cAt	p.P76H	ANO2_ENST00000327087.8_Missense_Mutation_p.P76H|ANO2_ENST00000546188.1_Missense_Mutation_p.P76H	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	80					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CAAGGACACAGGCTCATTGGC	0.557																																						ENST00000546188.1																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(226-228)cCt>cAt		anoctamin 2							80.0	78.0	78.0					12																	6030501		2075	4227	6302	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:6030501G>T	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.227C>A	12.37:g.6030501G>T	ENSP00000348453:p.Pro76His					ANO2_ENST00000356134.5_Missense_Mutation_p.P76H|ANO2_ENST00000327087.8_Missense_Mutation_p.P76H	p.P76H			Q9NQ90	ANO2_HUMAN			3	298	-			80					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.227C>A		.	.	.	.	.	.	.	.	.	.	G	9.390	1.075166	0.20227	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.66280	-0.2;-0.2;-0.2	4.9	4.0	0.46444	.	0.494480	0.15220	N	0.274011	T	0.53786	0.1818	L	0.43152	1.355	0.09310	N	1	P	0.41569	0.755	B	0.43331	0.416	T	0.35425	-0.9789	10	0.14656	T	0.56	.	9.4013	0.38435	0.0:0.1558:0.6827:0.1614	.	76	Q9NQ90-3	.	H	76;76;76;80	ENSP00000314048:P76H;ENSP00000348453:P76H;ENSP00000440981:P76H	ENSP00000314048:P76H	P	-	2	0	ANO2	5900762	0.001000	0.12720	0.308000	0.25141	0.211000	0.24417	0.246000	0.18160	1.018000	0.39521	-0.311000	0.09066	CCT		0.557	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		19	81	1	0	1.00905e-13	1	1.05366e-13	19	81				
RNF111	54778	broad.mit.edu	37	15	59323315	59323315	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:59323315G>A	ENST00000557998.1	+	2	581	c.294G>A	c.(292-294)caG>caA	p.Q98Q	RNF111_ENST00000434298.1_Silent_p.Q98Q|RNF111_ENST00000561186.1_Silent_p.Q98Q|RNF111_ENST00000348370.4_Silent_p.Q98Q|RNF111_ENST00000559209.1_Silent_p.Q98Q	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	98					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GCAAAAGCCAGCAGGCTGGCC	0.423																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(292-294)caG>caA		ring finger protein 111							103.0	101.0	102.0					15																	59323315		2192	4291	6483	SO:0001819	synonymous_variant	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59323315G>A	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.294G>A	15.37:g.59323315G>A						RNF111_ENST00000434298.1_Silent_p.Q98Q|RNF111_ENST00000559209.1_Silent_p.Q98Q|RNF111_ENST00000561186.1_Silent_p.Q98Q|RNF111_ENST00000557998.1_Silent_p.Q98Q	p.Q98Q	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	2	727	+			98					C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP	ENST00000557998.1	37	c.294G>A	CCDS58366.1																																																																																				0.423	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		22	85	0	0	0	1	0	22	85				
TRIM42	287015	broad.mit.edu	37	3	140407245	140407245	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:140407245A>G	ENST00000286349.3	+	3	1912	c.1721A>G	c.(1720-1722)tAc>tGc	p.Y574C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	574						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTCTACACCTACTGGAGTGCT	0.577																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1720-1722)tAc>tGc		tripartite motif containing 42							75.0	75.0	75.0					3																	140407245		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140407245A>G	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1721A>G	3.37:g.140407245A>G	ENSP00000286349:p.Tyr574Cys						p.Y574C	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			3	1912	+			574					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1721A>G	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.350283	0.61183	.	.	ENSG00000155890	ENST00000286349	T	0.40476	1.03	5.52	5.52	0.82312	.	0.114561	0.39544	N	0.001325	T	0.50326	0.1609	L	0.27053	0.805	0.39632	D	0.970182	D	0.76494	0.999	D	0.81914	0.995	T	0.55995	-0.8052	10	0.72032	D	0.01	-37.0951	12.3166	0.54960	1.0:0.0:0.0:0.0	.	574	Q8IWZ5	TRI42_HUMAN	C	574	ENSP00000286349:Y574C	ENSP00000286349:Y574C	Y	+	2	0	TRIM42	141889935	0.998000	0.40836	1.000000	0.80357	0.948000	0.59901	1.244000	0.32778	2.234000	0.73211	0.533000	0.62120	TAC		0.577	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		8	167	0	0	0	1	0	8	167				
AKAP9	10142	broad.mit.edu	37	7	91603150	91603150	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:91603150T>A	ENST00000359028.2	+	3	435	c.210T>A	c.(208-210)gaT>gaA	p.D70E	AKAP9_ENST00000356239.3_Missense_Mutation_p.D58E|AKAP9_ENST00000394564.1_Missense_Mutation_p.D58E|AKAP9_ENST00000358100.2_Missense_Mutation_p.D70E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	70					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGAATATTGATCAATCACAGT	0.368			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(208-210)gaT>gaA		A kinase (PRKA) anchor protein 9							84.0	84.0	84.0					7																	91603150		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91603150T>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.210T>A	7.37:g.91603150T>A	ENSP00000351922:p.Asp70Glu					AKAP9_ENST00000394564.1_Missense_Mutation_p.D58E|AKAP9_ENST00000358100.2_Missense_Mutation_p.D70E|AKAP9_ENST00000356239.3_Missense_Mutation_p.D58E	p.D70E			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		3	435	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		70					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.210T>A		.	.	.	.	.	.	.	.	.	.	T	8.336	0.827681	0.16749	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564;ENST00000438114	T;T;T;T;T	0.64085	2.65;2.65;2.65;-0.08;-0.08	4.37	-3.92	0.04155	.	.	.	.	.	T	0.19366	0.0465	N	0.01003	-1.06	0.23168	N	0.998186	B;B;B;B	0.14805	0.001;0.001;0.011;0.001	B;B;B;B	0.16722	0.001;0.001;0.016;0.002	T	0.25398	-1.0133	9	0.02654	T	1	.	0.641	0.00810	0.2237:0.1563:0.311:0.309	.	58;58;70;58	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	E	58;70;70;70;70;58;27	ENSP00000348573:D58E;ENSP00000351922:D70E;ENSP00000350813:D70E;ENSP00000378065:D58E;ENSP00000391704:D27E	ENSP00000348573:D58E	D	+	3	2	AKAP9	91441086	0.012000	0.17670	0.033000	0.17914	0.523000	0.34469	-0.247000	0.08866	-0.881000	0.03992	0.519000	0.50382	GAT		0.368	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		16	51	0	0	0	1	0	16	51				
IRX2	153572	broad.mit.edu	37	5	2749646	2749646	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:2749646G>A	ENST00000382611.6	-	2	753	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.R169C|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000397835.4_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	169					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R169C(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		AGGCGCCGGCGCGCGTTGGCG	0.597																																						ENST00000382611.6																			1	Substitution - Missense(1)	p.R169C(1)	skin(1)	breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(505-507)Cgc>Tgc		iroquois homeobox 2							145.0	131.0	136.0					5																	2749646		2203	4300	6503	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749646G>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.505C>T	5.37:g.2749646G>A	ENSP00000372056:p.Arg169Cys					IRX2_ENST00000302057.5_Missense_Mutation_p.R169C|IRX2_ENST00000502957.1_5'UTR	p.R169C	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	753	-			169					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.505C>T	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994538	0.74703	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	D;D;D	0.99841	-7.09;-7.09;-7.09	4.85	4.85	0.62838	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96391	0.9289	10	0.87932	D	0	-25.5616	13.0036	0.58690	0.0:0.0:0.8386:0.1614	.	169	Q9BZI1	IRX2_HUMAN	C	169;169;76	ENSP00000372056:R169C;ENSP00000307006:R169C;ENSP00000426151:R76C	ENSP00000307006:R169C	R	-	1	0	IRX2	2802646	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.840000	0.39230	2.239000	0.73571	0.655000	0.94253	CGC		0.597	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			34	127	0	0	0	1	0	34	127				
FGF12	2257	broad.mit.edu	37	3	192078265	192078265	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:192078265G>A	ENST00000454309.2	-	2	1087	c.262C>T	c.(262-264)Cac>Tac	p.H88Y	FGF12_ENST00000264730.3_Missense_Mutation_p.H26Y|FGF12_ENST00000430714.1_Intron|FGF12_ENST00000445105.2_Missense_Mutation_p.H26Y|FGF12_ENST00000450716.1_Missense_Mutation_p.H26Y	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	88					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		CCATCTGGGTGCATCTGCAGG	0.408																																						ENST00000454309.2																			0				endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(262-264)Cac>Tac		fibroblast growth factor 12							171.0	149.0	156.0					3																	192078265		2203	4300	6503	SO:0001583	missense	2257				cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	g.chr3:192078265G>A	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.262C>T	3.37:g.192078265G>A	ENSP00000413496:p.His88Tyr					FGF12_ENST00000430714.1_Intron|FGF12_ENST00000264730.3_Missense_Mutation_p.H26Y|FGF12_ENST00000450716.1_Missense_Mutation_p.H26Y|FGF12_ENST00000445105.1_Missense_Mutation_p.H26Y	p.H88Y	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)	2	1087	-	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	88					B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Missense_Mutation	SNP	ENST00000454309.2	37	c.262C>T	CCDS3301.1	.	.	.	.	.	.	.	.	.	.	G	4.153	0.026904	0.08054	.	.	ENSG00000114279	ENST00000264730;ENST00000392454;ENST00000445105;ENST00000454309;ENST00000450716;ENST00000448795;ENST00000418610	D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.53	5.53	0.82687	.	0.232684	0.52532	D	0.000070	T	0.75635	0.3876	L	0.45228	1.405	0.48696	D	0.999692	B;B	0.13145	0.007;0.003	B;B	0.19148	0.008;0.024	T	0.69083	-0.5239	10	0.20519	T	0.43	.	18.4573	0.90725	0.0:0.0:1.0:0.0	.	26;88	P61328-2;P61328	.;FGF12_HUMAN	Y	26;26;26;88;26;2;26	ENSP00000264730:H26Y;ENSP00000393686:H26Y;ENSP00000413496:H88Y;ENSP00000397635:H26Y;ENSP00000412904:H2Y;ENSP00000395517:H26Y	ENSP00000264730:H26Y	H	-	1	0	FGF12	193560959	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.202000	0.72131	2.613000	0.88420	0.591000	0.81541	CAC		0.408	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		6	91	0	0	0	1	0	6	91				
AGXT2	64902	broad.mit.edu	37	5	35035325	35035325	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:35035325A>G	ENST00000231420.6	-	5	782		c.e5+1		AC010368.1_ENST00000390793.2_RNA	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2						cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	AGTTGTGATTACCTGAAAGAA	0.443																																						ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.e5+1		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						120.0	129.0	126.0					5																	35035325		2203	4300	6503	SO:0001630	splice_region_variant	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35035325A>G	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.581+1T>C	5.37:g.35035325A>G								NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	5	782	-	all_lung(31;4.52e-05)							B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Splice_Site	SNP	ENST00000231420.6	37		CCDS3908.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.438486	0.43326	.	.	ENSG00000113492	ENST00000231420	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1937	0.65656	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AGXT2	35071082	1.000000	0.71417	0.998000	0.56505	0.356000	0.29392	8.648000	0.91062	2.229000	0.72834	0.533000	0.62120	.		0.443	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900	Intron	26	116	0	0	0	1	0	26	116				
ZC3H12C	85463	broad.mit.edu	37	11	110023726	110023726	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:110023726A>G	ENST00000278590.3	+	3	907	c.856A>G	c.(856-858)Aca>Gca	p.T286A	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.T255A|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.T287A	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	286							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CAAAGACATTACAGTTTTTGT	0.428																																						ENST00000453089.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(763-765)Aca>Gca		zinc finger CCCH-type containing 12C							57.0	55.0	55.0					11																	110023726		1859	4090	5949	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110023726A>G		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.856A>G	11.37:g.110023726A>G	ENSP00000278590:p.Thr286Ala					ZC3H12C_ENST00000528673.1_Missense_Mutation_p.T287A|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.T286A	p.T255A			Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	2	1644	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	286					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.763A>G	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752529	0.89753	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.42513	0.97;0.97;0.97	5.86	5.86	0.93980	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.65842	0.2730	M	0.76574	2.34	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.83275	0.996;0.992;0.996	T	0.69030	-0.5253	10	0.66056	D	0.02	-21.0708	16.2538	0.82501	1.0:0.0:0.0:0.0	.	287;286;286	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	A	286;287;255	ENSP00000278590:T286A;ENSP00000431821:T287A;ENSP00000413094:T255A	ENSP00000278590:T286A	T	+	1	0	ZC3H12C	109528936	1.000000	0.71417	0.154000	0.22540	0.978000	0.69477	8.962000	0.93254	2.244000	0.73946	0.528000	0.53228	ACA		0.428	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		9	27	0	0	0	1	0	9	27				
AGRN	375790	broad.mit.edu	37	1	983037	983037	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:983037C>T	ENST00000379370.2	+	21	3651	c.3601C>T	c.(3601-3603)Cgc>Tgc	p.R1201C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1201	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CAAATCCGTCCGCGCCATTGT	0.617																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(3601-3603)Cgc>Tgc		agrin							50.0	54.0	53.0					1																	983037		2203	4300	6503	SO:0001583	missense	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:983037C>T	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.3601C>T	1.37:g.983037C>T	ENSP00000368678:p.Arg1201Cys						p.R1201C	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	21	3651	+	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)	1201			SEA.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.3601C>T	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472951	0.43942	.	.	ENSG00000188157	ENST00000379370	T	0.34275	1.37	3.86	3.86	0.44501	SEA (3);	0.116357	0.35235	U	0.003360	T	0.43411	0.1246	L	0.27053	0.805	0.51482	D	0.999928	D	0.89917	1.0	D	0.68765	0.96	T	0.41998	-0.9477	10	0.72032	D	0.01	-17.9159	11.6338	0.51192	0.1777:0.8223:0.0:0.0	.	1201	O00468	AGRIN_HUMAN	C	1201	ENSP00000368678:R1201C	ENSP00000368678:R1201C	R	+	1	0	AGRN	972900	1.000000	0.71417	0.822000	0.32727	0.418000	0.31294	0.949000	0.29109	2.183000	0.69458	0.550000	0.68814	CGC		0.617	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		22	82	0	0	0	1	0	22	82				
MBD6	114785	broad.mit.edu	37	12	57920551	57920551	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:57920551G>A	ENST00000355673.3	+	7	1979	c.1623G>A	c.(1621-1623)ttG>ttA	p.L541L	MBD6_ENST00000431731.2_Silent_p.L541L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	541	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TTGGGGCCTTGCCTCTCCCTC	0.627																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(1621-1623)ttG>ttA		methyl-CpG binding domain protein 6							67.0	57.0	60.0					12																	57920551		2203	4300	6503	SO:0001819	synonymous_variant	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57920551G>A	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1623G>A	12.37:g.57920551G>A						MBD6_ENST00000431731.2_Silent_p.L541L	p.L541L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			7	1979	+			541			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Silent	SNP	ENST00000355673.3	37	c.1623G>A	CCDS8944.1																																																																																				0.627	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			27	86	0	0	0	1	0	27	86				
G3BP1	10146	broad.mit.edu	37	5	151179896	151179896	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:151179896A>T	ENST00000394123.3	+	10	1218	c.1073A>T	c.(1072-1074)gAt>gTt	p.D358V	G3BP1_ENST00000356245.3_Missense_Mutation_p.D358V|G3BP1_ENST00000543466.1_Missense_Mutation_p.D176V			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	358	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GAGCTTAAAGATTTCTTTCAA	0.403																																						ENST00000394123.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29						c.(1072-1074)gAt>gTt		GTPase activating protein (SH3 domain) binding protein 1							76.0	71.0	73.0					5																	151179896		2203	4300	6503	SO:0001583	missense	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151179896A>T	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.1073A>T	5.37:g.151179896A>T	ENSP00000377681:p.Asp358Val					G3BP1_ENST00000356245.3_Missense_Mutation_p.D358V|G3BP1_ENST00000543466.1_Missense_Mutation_p.D176V	p.D358V			Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		10	1218	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	358			RRM.		Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	c.1073A>T	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.592272	0.66219	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	T;T;T	0.19394	2.15;2.15;2.15	5.01	5.01	0.66863	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.047845	0.85682	D	0.000000	T	0.29588	0.0738	M	0.73753	2.245	0.80722	D	1	B	0.32653	0.379	B	0.34385	0.181	T	0.15407	-1.0438	10	0.87932	D	0	-0.1638	15.0227	0.71643	1.0:0.0:0.0:0.0	.	358	Q13283	G3BP1_HUMAN	V	358;176;358;200	ENSP00000377681:D358V;ENSP00000445035:D176V;ENSP00000348578:D358V	ENSP00000274596:D200V	D	+	2	0	G3BP1	151160089	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.559000	0.90708	2.012000	0.59069	0.455000	0.32223	GAT		0.403	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		19	52	0	0	0	1	0	19	52				
OLFM3	118427	broad.mit.edu	37	1	102270375	102270375	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:102270375G>T	ENST00000338858.5	-	6	855	c.856C>A	c.(856-858)Ctt>Att	p.L286I	OLFM3_ENST00000370103.4_Missense_Mutation_p.L266I|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	286	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TTGAAAGGAAGGTTGTATGTC	0.368																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(796-798)Ctt>Att		olfactomedin 3							98.0	94.0	95.0					1																	102270375		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102270375G>T	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.856C>A	1.37:g.102270375G>T	ENSP00000345192:p.Leu286Ile					OLFM3_ENST00000338858.5_Missense_Mutation_p.L286I|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR	p.L266I	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	6	1009	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	286			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.796C>A		.	.	.	.	.	.	.	.	.	.	G	21.1	4.091739	0.76756	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858	D;D	0.91894	-2.93;-2.93	5.35	5.35	0.76521	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.95118	0.8418	M	0.71920	2.185	0.80722	D	1	D;D	0.69078	0.988;0.997	D;D	0.76071	0.966;0.987	D	0.94094	0.7356	10	0.42905	T	0.14	.	19.0559	0.93064	0.0:0.0:1.0:0.0	.	266;286	Q5T3V6;Q96PB7	.;NOE3_HUMAN	I	137;266;286	ENSP00000359121:L266I;ENSP00000345192:L286I	ENSP00000345192:L286I	L	-	1	0	OLFM3	102042963	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.510000	0.84645	0.650000	0.86243	CTT		0.368	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			31	76	1	0	3.69857e-22	1	3.90823e-22	31	76				
ZNF396	252884	broad.mit.edu	37	18	32949530	32949530	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:32949530A>G	ENST00000589332.1	-	4	788	c.657T>C	c.(655-657)caT>caC	p.H219H	ZNF396_ENST00000306346.1_Silent_p.H219H			Q96N95	ZN396_HUMAN	zinc finger protein 396	219					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						AGCCATTCATATGAAGGATAT	0.368																																						ENST00000306346.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(655-657)caT>caC		zinc finger protein 396							153.0	153.0	153.0					18																	32949530		2203	4300	6503	SO:0001819	synonymous_variant	252884				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32949530A>G	AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"""-"", ""Zinc fingers, C2H2-type"""	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.657T>C	18.37:g.32949530A>G						ZNF396_ENST00000589332.1_Silent_p.H219H	p.H219H	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN			4	788	-			219					A1L3V0|Q8NF98|Q8TD80	Silent	SNP	ENST00000589332.1	37	c.657T>C																																																																																					0.368	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1	NM_145756		37	101	0	0	0	1	0	37	101				
CCDC97	90324	broad.mit.edu	37	19	41828524	41828524	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41828524C>T	ENST00000269967.3	+	5	1058	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	312										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						ACCCCGACTTCGACAACCTCG	0.617																																						ENST00000269967.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						c.(934-936)ttC>ttT		coiled-coil domain containing 97							143.0	117.0	126.0					19																	41828524		2203	4300	6503	SO:0001819	synonymous_variant	90324							g.chr19:41828524C>T	BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.936C>T	19.37:g.41828524C>T							p.F312F	NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN			5	1058	+			312					Q658N6|Q96IF3	Silent	SNP	ENST00000269967.3	37	c.936C>T	CCDS12578.1																																																																																				0.617	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1	NM_052848		55	122	0	0	0	1	0	55	122				
TGS1	96764	broad.mit.edu	37	8	56711540	56711540	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:56711540A>G	ENST00000260129.5	+	8	2087	c.1610A>G	c.(1609-1611)cAt>cGt	p.H537R		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	537					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TCATCTTCTCATGACAATGTG	0.383																																					Esophageal Squamous(34;275 823 4842 34837 48447)	ENST00000260129.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1609-1611)cAt>cGt		trimethylguanosine synthase 1							113.0	96.0	102.0					8																	56711540		2203	4300	6503	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56711540A>G	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.1610A>G	8.37:g.56711540A>G	ENSP00000260129:p.His537Arg						p.H537R	NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		8	2087	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	537					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.1610A>G	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	A	3.068	-0.191717	0.06299	.	.	ENSG00000137574	ENST00000260129	T	0.40476	1.03	5.73	0.123	0.14709	.	0.969547	0.08540	N	0.930711	T	0.25082	0.0609	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.29212	-1.0019	10	0.06891	T	0.86	0.6331	4.0273	0.09693	0.5022:0.0:0.2619:0.2359	.	537;537	B2RBJ7;Q96RS0	.;TGS1_HUMAN	R	537	ENSP00000260129:H537R	ENSP00000260129:H537R	H	+	2	0	TGS1	56874094	0.001000	0.12720	0.004000	0.12327	0.008000	0.06430	0.116000	0.15561	0.459000	0.27016	0.528000	0.53228	CAT		0.383	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		25	72	0	0	0	1	0	25	72				
CEPT1	10390	broad.mit.edu	37	1	111702064	111702064	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:111702064T>C	ENST00000545121.1	+	3	610	c.402T>C	c.(400-402)gcT>gcC	p.A134A	CEPT1_ENST00000357172.4_Silent_p.A134A	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	134					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	CTTTGGATGCTATTGATGGGA	0.398																																						ENST00000545121.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8						c.(400-402)gcT>gcC		choline/ethanolamine phosphotransferase 1	Choline(DB00122)						174.0	174.0	174.0					1																	111702064		2203	4300	6503	SO:0001819	synonymous_variant	10390					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding	g.chr1:111702064T>C	AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.402T>C	1.37:g.111702064T>C						CEPT1_ENST00000357172.4_Silent_p.A134A	p.A134A	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	3	610	+		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	134					Q69YJ9|Q9P0Y8	Silent	SNP	ENST00000545121.1	37	c.402T>C	CCDS830.1																																																																																				0.398	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090		23	112	0	0	0	1	0	23	112				
DCAF4	26094	broad.mit.edu	37	14	73412598	73412598	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:73412598A>G	ENST00000358377.2	+	7	761	c.541A>G	c.(541-543)Acc>Gcc	p.T181A	DCAF4_ENST00000394234.2_Missense_Mutation_p.T81A|DCAF4_ENST00000555042.1_Missense_Mutation_p.T181A|DCAF4_ENST00000553457.1_Missense_Mutation_p.T81A|DCAF4_ENST00000509153.1_Missense_Mutation_p.T120A|DCAF4_ENST00000353777.3_Missense_Mutation_p.T120A	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	181					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CCAGGCAGATACCAACAGTGA	0.577																																						ENST00000553457.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						c.(241-243)Acc>Gcc		DDB1 and CUL4 associated factor 4							197.0	198.0	198.0					14																	73412598		2203	4300	6503	SO:0001583	missense	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73412598A>G	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.541A>G	14.37:g.73412598A>G	ENSP00000351147:p.Thr181Ala					DCAF4_ENST00000394234.2_Missense_Mutation_p.T81A|DCAF4_ENST00000509153.1_Missense_Mutation_p.T120A|DCAF4_ENST00000358377.2_Missense_Mutation_p.T181A|DCAF4_ENST00000353777.3_Missense_Mutation_p.T120A|DCAF4_ENST00000555042.1_Missense_Mutation_p.T181A	p.T81A			Q8WV16	DCAF4_HUMAN			6	531	+			181					B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP	ENST00000358377.2	37	c.241A>G	CCDS9809.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.561280	0.45590	.	.	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000394234;ENST00000509153;ENST00000555042;ENST00000553457	T;T;T;T;T;T	0.70986	0.54;-0.53;0.18;0.4;0.15;1.3	5.91	4.73	0.59995	.	0.251014	0.47455	D	0.000234	T	0.60117	0.2244	L	0.55834	1.745	0.31486	N	0.666554	B;B;B;B;P;B	0.40083	0.245;0.151;0.235;0.235;0.702;0.151	B;B;B;B;B;B	0.36092	0.077;0.1;0.161;0.161;0.217;0.068	T	0.66440	-0.5923	10	0.48119	T	0.1	.	5.2578	0.15555	0.6472:0.0:0.0771:0.2757	.	120;159;181;181;120;181	B4DUT6;B4DN30;Q8WV16-2;G3V522;Q86SY2;Q8WV16	.;.;.;.;.;DCAF4_HUMAN	A	181;120;81;120;181;81	ENSP00000351147:T181A;ENSP00000345176:T120A;ENSP00000377781:T81A;ENSP00000426178:T120A;ENSP00000452131:T181A;ENSP00000451186:T81A	ENSP00000345176:T120A	T	+	1	0	DCAF4	72482351	1.000000	0.71417	0.973000	0.42090	0.873000	0.50193	4.139000	0.58024	1.008000	0.39264	0.379000	0.24179	ACC		0.577	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		109	413	0	0	0	1	0	109	413				
CACNA1G	8913	broad.mit.edu	37	17	48692731	48692731	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:48692731G>A	ENST00000359106.5	+	27	4769	c.4769G>A	c.(4768-4770)tGc>tAc	p.C1590Y	CACNA1G_ENST00000442258.2_Missense_Mutation_p.C1549Y|CACNA1G_ENST00000514181.1_Missense_Mutation_p.C1572Y|CACNA1G_ENST00000352832.5_Missense_Mutation_p.C1556Y|CACNA1G_ENST00000515411.1_Missense_Mutation_p.C1572Y|CACNA1G_ENST00000505165.1_Missense_Mutation_p.C1590Y|CACNA1G_ENST00000507510.2_Missense_Mutation_p.C1590Y|CACNA1G_ENST00000358244.5_Missense_Mutation_p.C1556Y|CACNA1G_ENST00000515765.1_Missense_Mutation_p.C1579Y|CACNA1G_ENST00000503485.1_Missense_Mutation_p.C1556Y|CACNA1G_ENST00000510366.1_Missense_Mutation_p.C1538Y|CACNA1G_ENST00000512389.1_Missense_Mutation_p.C1579Y|CACNA1G_ENST00000515165.1_Missense_Mutation_p.C1590Y|CACNA1G_ENST00000429973.2_Missense_Mutation_p.C1572Y|CACNA1G_ENST00000354983.4_Missense_Mutation_p.C1556Y|CACNA1G_ENST00000502264.1_Missense_Mutation_p.C1567Y|CACNA1G_ENST00000507896.1_Missense_Mutation_p.C1579Y|CACNA1G_ENST00000507336.1_Missense_Mutation_p.C1579Y|CACNA1G_ENST00000514717.1_Missense_Mutation_p.C1533Y|CACNA1G_ENST00000513689.2_Missense_Mutation_p.C1545Y|CACNA1G_ENST00000507609.1_Missense_Mutation_p.C1590Y|CACNA1G_ENST00000514079.1_Missense_Mutation_p.C1597Y|CACNA1G_ENST00000360761.4_Missense_Mutation_p.C1567Y|CACNA1G_ENST00000513964.1_Missense_Mutation_p.C1545Y|CACNA1G_ENST00000510115.1_Missense_Mutation_p.C1556Y	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1590					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAAGCCCAGTGCAAACCTTAC	0.632																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(4666-4668)tGc>tAc		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						52.0	56.0	55.0					17																	48692731		1982	4147	6129	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48692731G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4769G>A	17.37:g.48692731G>A	ENSP00000352011:p.Cys1590Tyr					CACNA1G_ENST00000503485.1_Missense_Mutation_p.C1556Y|CACNA1G_ENST00000354983.4_Missense_Mutation_p.C1556Y|CACNA1G_ENST00000359106.5_Missense_Mutation_p.C1590Y|CACNA1G_ENST00000515411.1_Missense_Mutation_p.C1572Y|CACNA1G_ENST00000514181.1_Missense_Mutation_p.C1572Y|CACNA1G_ENST00000505165.1_Missense_Mutation_p.C1590Y|CACNA1G_ENST00000514079.1_Missense_Mutation_p.C1597Y|CACNA1G_ENST00000510366.1_Missense_Mutation_p.C1538Y|CACNA1G_ENST00000513964.1_Missense_Mutation_p.C1545Y|CACNA1G_ENST00000515165.1_Missense_Mutation_p.C1590Y|CACNA1G_ENST00000515765.1_Missense_Mutation_p.C1579Y|CACNA1G_ENST00000514717.1_Missense_Mutation_p.C1533Y|CACNA1G_ENST00000442258.2_Missense_Mutation_p.C1549Y|CACNA1G_ENST00000507510.2_Missense_Mutation_p.C1590Y|CACNA1G_ENST00000502264.1_Missense_Mutation_p.C1567Y|CACNA1G_ENST00000507609.1_Missense_Mutation_p.C1590Y|CACNA1G_ENST00000507336.1_Missense_Mutation_p.C1579Y|CACNA1G_ENST00000510115.1_Missense_Mutation_p.C1556Y|CACNA1G_ENST00000507896.1_Missense_Mutation_p.C1579Y|CACNA1G_ENST00000358244.5_Missense_Mutation_p.C1556Y|CACNA1G_ENST00000513689.2_Missense_Mutation_p.C1545Y|CACNA1G_ENST00000429973.2_Missense_Mutation_p.C1572Y|CACNA1G_ENST00000512389.1_Missense_Mutation_p.C1579Y|CACNA1G_ENST00000360761.4_Missense_Mutation_p.C1567Y	p.C1556Y	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		25	5039	+	Breast(11;6.7e-17)		1590					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.4667G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	13.22	2.171373	0.38315	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96830	-3.96;-4.01;-3.96;-3.99;-3.96;-4.03;-4.14;-4.06;-4.12;-4.07;-3.93;-3.98;-4.09;-3.95;-3.96;-3.98;-3.97;-3.98;-4.0;-4.01;-3.93;-4.01;-3.94;-3.98;-4.03	4.75	3.76	0.43208	.	0.515300	0.23957	N	0.042887	D	0.97648	0.9229	M	0.75615	2.305	0.40051	D	0.975773	D;P;D;D;D;D;D;D;D;D;D;B;B;D;D;P;P;P;D;D;D;P;D;B;P	0.69078	0.988;0.868;0.988;0.991;0.995;0.997;0.995;0.99;0.995;0.98;0.994;0.231;0.294;0.994;0.994;0.674;0.637;0.94;0.995;0.988;0.992;0.683;0.994;0.26;0.679	D;B;P;D;P;P;D;P;D;P;P;P;B;P;P;B;B;P;P;P;D;B;P;P;B	0.80764	0.942;0.424;0.759;0.994;0.905;0.898;0.992;0.905;0.992;0.629;0.878;0.533;0.247;0.878;0.795;0.247;0.379;0.681;0.905;0.733;0.982;0.333;0.878;0.482;0.094	D	0.97612	1.0130	10	0.46703	T	0.11	.	14.8371	0.70192	0.0:0.1451:0.8549:0.0	.	1533;1545;1538;1572;1545;1572;1597;1556;1590;1579;1590;1567;1579;1579;1572;1579;1590;1567;1590;1556;1549;1556;1567;1590;1556	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	Y	1567;1556;1556;1549;1567;1579;1545;1533;1538;1556;1590;1579;1545;1590;1556;1590;1572;1579;1597;1556;1590;1572;1572;1590;1579	ENSP00000353990:C1567Y;ENSP00000339302:C1556Y;ENSP00000347078:C1556Y;ENSP00000409759:C1549Y;ENSP00000425522:C1567Y;ENSP00000426261:C1579Y;ENSP00000425451:C1545Y;ENSP00000422407:C1533Y;ENSP00000426814:C1538Y;ENSP00000427238:C1556Y;ENSP00000423112:C1590Y;ENSP00000420918:C1579Y;ENSP00000426172:C1545Y;ENSP00000423045:C1590Y;ENSP00000427173:C1556Y;ENSP00000426098:C1590Y;ENSP00000425698:C1572Y;ENSP00000426232:C1579Y;ENSP00000423317:C1597Y;ENSP00000350979:C1556Y;ENSP00000352011:C1590Y;ENSP00000414388:C1572Y;ENSP00000423155:C1572Y;ENSP00000422268:C1590Y;ENSP00000421518:C1579Y	ENSP00000339302:C1556Y	C	+	2	0	CACNA1G	46047730	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	6.162000	0.71874	0.961000	0.38030	-0.502000	0.04539	TGC		0.632	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		18	53	0	0	0	1	0	18	53				
LYST	1130	broad.mit.edu	37	1	235866193	235866193	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:235866193T>C	ENST00000389794.3	-	45	10402	c.10228A>G	c.(10228-10230)Act>Gct	p.T3410A	LYST_ENST00000389793.2_Missense_Mutation_p.T3410A|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3410	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGACGGGGAGTCTGCCCGTAG	0.502																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(10228-10230)Act>Gct		lysosomal trafficking regulator							169.0	171.0	170.0					1																	235866193		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235866193T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10228A>G	1.37:g.235866193T>C	ENSP00000374444:p.Thr3410Ala					LYST_ENST00000389793.2_Missense_Mutation_p.T3410A|LYST_ENST00000473037.1_5'UTR	p.T3410A			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		45	10402	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3410			BEACH.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.10228A>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284147	0.80803	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.80566	-1.39;-1.39	5.37	5.37	0.77165	BEACH domain (4);	0.045894	0.85682	D	0.000000	D	0.86661	0.5986	L	0.58810	1.83	0.80722	D	1	D	0.63046	0.992	P	0.62740	0.906	D	0.87900	0.2690	10	0.66056	D	0.02	.	15.3688	0.74545	0.0:0.0:0.0:1.0	.	3410	Q99698	LYST_HUMAN	A	3410	ENSP00000374444:T3410A;ENSP00000374443:T3410A	ENSP00000374443:T3410A	T	-	1	0	LYST	233932816	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	7.698000	0.84413	2.047000	0.60756	0.402000	0.26972	ACT		0.502	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			60	220	0	0	0	1	0	60	220				
LARP6	55323	broad.mit.edu	37	15	71125077	71125077	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:71125077C>T	ENST00000299213.8	-	3	860	c.790G>A	c.(790-792)Gag>Aag	p.E264K	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	264	RRM.				regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TCCACCTCCTCGAACTCCACG	0.562																																						ENST00000299213.8																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						c.(790-792)Gag>Aag		La ribonucleoprotein domain family, member 6							82.0	74.0	77.0					15																	71125077		2199	4297	6496	SO:0001583	missense	55323				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr15:71125077C>T	BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.790G>A	15.37:g.71125077C>T	ENSP00000299213:p.Glu264Lys						p.E264K	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN			3	860	-			264					Q5XKE4|Q8N3N2|Q9NUR0	Missense_Mutation	SNP	ENST00000299213.8	37	c.790G>A	CCDS32281.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831835	0.91036	.	.	ENSG00000166173	ENST00000299213	T	0.56776	0.44	4.77	4.77	0.60923	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.71929	0.3398	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73575	-0.3939	10	0.42905	T	0.14	-29.1131	15.2903	0.73862	0.0:1.0:0.0:0.0	.	264	Q9BRS8	LARP6_HUMAN	K	264	ENSP00000299213:E264K	ENSP00000299213:E264K	E	-	1	0	LARP6	68912131	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	7.364000	0.79526	2.208000	0.71279	0.555000	0.69702	GAG		0.562	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357		17	56	0	0	0	1	0	17	56				
DNAH9	1770	broad.mit.edu	37	17	11872631	11872631	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:11872631A>G	ENST00000262442.4	+	69	13316	c.13248A>G	c.(13246-13248)acA>acG	p.T4416T	DNAH9_ENST00000608377.1_Silent_p.T728T|DNAH9_ENST00000396001.2_3'UTR|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000454412.2_Silent_p.T4340T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4416					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGATCATTACAGAGGCAAAGC	0.522																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(13246-13248)acA>acG		dynein, axonemal, heavy chain 9							120.0	110.0	113.0					17																	11872631		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11872631A>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13248A>G	17.37:g.11872631A>G						DNAH9_ENST00000454412.2_Silent_p.T4340T|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_Silent_p.T728T	p.T4416T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	69	13316	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4416					A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.13248A>G	CCDS11160.1																																																																																				0.522	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		29	96	0	0	0	1	0	29	96				
CKAP5	9793	broad.mit.edu	37	11	46837797	46837797	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:46837797T>C	ENST00000529230.1	-	4	456	c.410A>G	c.(409-411)aAt>aGt	p.N137S	CKAP5_ENST00000354558.3_Missense_Mutation_p.N137S|CKAP5_ENST00000415402.1_Missense_Mutation_p.N137S|CKAP5_ENST00000312055.5_Missense_Mutation_p.N137S			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	137					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GATCTTGGGATTCTTATTGTC	0.428																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(409-411)aAt>aGt		cytoskeleton associated protein 5							149.0	138.0	142.0					11																	46837797		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46837797T>C		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.410A>G	11.37:g.46837797T>C	ENSP00000432768:p.Asn137Ser					CKAP5_ENST00000312055.5_Missense_Mutation_p.N137S|CKAP5_ENST00000415402.1_Missense_Mutation_p.N137S|CKAP5_ENST00000354558.3_Missense_Mutation_p.N137S	p.N137S			Q14008	CKAP5_HUMAN			4	456	-			137					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.410A>G	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.378259	0.61735	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000378629;ENST00000354558;ENST00000526496	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;1.41	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70736	0.3258	L	0.40543	1.245	0.80722	D	1	D;D;B	0.67145	0.996;0.996;0.214	D;D;B	0.73380	0.98;0.98;0.063	T	0.67027	-0.5774	10	0.25106	T	0.35	0.0158	15.9272	0.79628	0.0:0.0:0.0:1.0	.	137;137;137	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	S	137	ENSP00000432768:N137S;ENSP00000395302:N137S;ENSP00000310227:N137S;ENSP00000346566:N137S;ENSP00000436769:N137S	ENSP00000310227:N137S	N	-	2	0	CKAP5	46794373	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.929000	0.87595	2.141000	0.66446	0.528000	0.53228	AAT		0.428	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		9	157	0	0	0	1	0	9	157				
LRRC8E	80131	broad.mit.edu	37	19	7964151	7964151	+	Silent	SNP	C	C	T	rs572952810		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:7964151C>T	ENST00000306708.6	+	3	845	c.744C>T	c.(742-744)ggC>ggT	p.G248G	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	248					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TGGAAGAGGGCGACATCCTGT	0.527																																						ENST00000306708.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						c.(742-744)ggC>ggT		leucine rich repeat containing 8 family, member E							145.0	116.0	126.0					19																	7964151		2203	4300	6503	SO:0001819	synonymous_variant	80131					integral to membrane		g.chr19:7964151C>T		CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.744C>T	19.37:g.7964151C>T						AC010336.1_ENST00000539278.1_3'UTR	p.G248G	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN			3	845	+			248					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Silent	SNP	ENST00000306708.6	37	c.744C>T	CCDS12189.1																																																																																				0.527	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		19	47	0	0	0	1	0	19	47				
DICER1	23405	broad.mit.edu	37	14	95595892	95595892	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:95595892C>A	ENST00000526495.1	-	8	942	c.651G>T	c.(649-651)gaG>gaT	p.E217D	DICER1_ENST00000541352.1_Missense_Mutation_p.E217D|DICER1_ENST00000393063.1_Missense_Mutation_p.E217D|DICER1_ENST00000343455.3_Missense_Mutation_p.E217D|DICER1_ENST00000527414.1_Missense_Mutation_p.E217D			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	217	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTTCCAATTCCTCTGGATCAC	0.378			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(649-651)gaG>gaT		dicer 1, ribonuclease type III							73.0	73.0	73.0					14																	95595892		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95595892C>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.651G>T	14.37:g.95595892C>A	ENSP00000437256:p.Glu217Asp					DICER1_ENST00000343455.3_Missense_Mutation_p.E217D|DICER1_ENST00000541352.1_Missense_Mutation_p.E217D|DICER1_ENST00000393063.1_Missense_Mutation_p.E217D|DICER1_ENST00000527414.1_Missense_Mutation_p.E217D	p.E217D			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	8	942	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	217			Helicase ATP-binding.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.651G>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	9.920	1.212024	0.22289	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.69	5.57	3.71	0.42584	DEAD-like helicase (2);	0.462575	0.26532	N	0.023849	T	0.27594	0.0678	N	0.16478	0.41	0.34051	D	0.656133	B	0.02656	0.0	B	0.04013	0.001	T	0.19549	-1.0302	10	0.12766	T	0.61	-12.199	3.0543	0.06179	0.2618:0.4876:0.1222:0.1284	.	217	Q9UPY3	DICER_HUMAN	D	217	ENSP00000343745:E217D;ENSP00000437256:E217D;ENSP00000376783:E217D;ENSP00000435681:E217D;ENSP00000444719:E217D	ENSP00000343745:E217D	E	-	3	2	DICER1	94665645	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.296000	0.19083	1.463000	0.47967	0.650000	0.86243	GAG		0.378	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			18	38	1	0	4.75885e-15	1	4.98425e-15	18	38				
MSANTD2	79684	broad.mit.edu	37	11	124637135	124637135	+	Silent	SNP	G	G	A	rs368326086		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:124637135G>A	ENST00000374979.3	-	4	1625	c.1617C>T	c.(1615-1617)tcC>tcT	p.S539S	MSANTD2_ENST00000526629.1_Silent_p.S309S|RP11-677M14.3_ENST00000532579.1_RNA|MSANTD2_ENST00000239614.4_Silent_p.S487S|RP11-677M14.3_ENST00000504932.2_RNA			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2	539																	AAGAGCCTGCGGAAAGAAAAT	0.413																																						ENST00000526629.1																			0											c.(925-927)tcC>tcT		Myb/SANT-like DNA-binding domain containing 2		G		1,4401	2.1+/-5.4	0,1,2200	68.0	77.0	74.0		1461	-6.0	0.4	11		74	0,8598		0,0,4299	no	coding-synonymous	C11orf61	NM_024631.2		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		487/508	124637135	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	79684							g.chr11:124637135G>A	AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 61"""	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931	ENST00000374979.3:c.1617C>T	11.37:g.124637135G>A						MSANTD2_ENST00000374979.3_Silent_p.S539S|MSANTD2_ENST00000239614.4_Silent_p.S487S	p.S309S			Q6P1R3	CK061_HUMAN			3	2374	-			539					B3KRY6|Q9H042|Q9H5K8	Silent	SNP	ENST00000374979.3	37	c.927C>T																																																																																					0.413	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000387084.1	NM_024631		41	105	0	0	0	1	0	41	105				
GRM8	2918	broad.mit.edu	37	7	126173817	126173817	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:126173817C>T	ENST00000339582.2	-	9	2427	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.R540H|GRM8_ENST00000444921.2_Missense_Mutation_p.R540H			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	540					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				ACCTTCACAGCGTTCACAGTG	0.562										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1618-1620)cGc>cAc		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						124.0	115.0	118.0					7																	126173817		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173817C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1619G>A	7.37:g.126173817C>T	ENSP00000344173:p.Arg540His	HNSCC(24;0.065)				GRM8_ENST00000358373.3_Missense_Mutation_p.R540H|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.R540H	p.R540H			O00222	GRM8_HUMAN			9	2427	-		Prostate(267;0.186)	540					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1619G>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247693	0.80024	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89810	-2.57;-2.57;-2.57	5.8	5.8	0.92144	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.93119	0.7809	M	0.65320	2	0.80722	D	1	D;D	0.76494	0.999;0.985	P;P	0.62014	0.897;0.75	D	0.92945	0.6375	10	0.59425	D	0.04	.	19.0428	0.93008	0.0:1.0:0.0:0.0	.	540;540	O00222-2;O00222	.;GRM8_HUMAN	H	540	ENSP00000344173:R540H;ENSP00000409790:R540H;ENSP00000351142:R540H	ENSP00000344173:R540H	R	-	2	0	GRM8	125961053	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.238000	0.51352	2.758000	0.94735	0.643000	0.83706	CGC		0.562	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			23	103	0	0	0	1	0	23	103				
ATE1	11101	broad.mit.edu	37	10	123658396	123658396	+	Intron	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:123658396G>A	ENST00000224652.6	-	7	1028				ATE1_ENST00000481784.1_Intron|ATE1_ENST00000369040.3_Missense_Mutation_p.A205V|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000369043.3_Missense_Mutation_p.A301V|ATE1_ENST00000540606.1_Missense_Mutation_p.A294V	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1						protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CTGGTGTATGGCCACTTGATA	0.428																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(901-903)gCc>gTc		arginyltransferase 1							203.0	168.0	180.0					10																	123658396		2203	4300	6503	SO:0001627	intron_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123658396G>A	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.942+984C>T	10.37:g.123658396G>A						ATE1_ENST00000543447.1_Intron|ATE1_ENST00000369040.3_Missense_Mutation_p.A205V|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000224652.6_Intron|ATE1_ENST00000540606.1_Missense_Mutation_p.A294V|ATE1_ENST00000535655.1_Intron	p.A301V	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN			7	988	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	301					O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	ENST00000224652.6	37	c.902C>T	CCDS31300.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075944	0.36662	.	.	ENSG00000107669	ENST00000369043;ENST00000369040;ENST00000540606	.	.	.	5.66	4.74	0.60224	.	0.504313	0.22376	N	0.060877	T	0.54415	0.1857	L	0.45285	1.41	0.80722	D	1	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.14578	0.007;0.011;0.004	T	0.49263	-0.8958	9	0.15952	T	0.53	-16.1063	16.52	0.84311	0.0:0.1309:0.8691:0.0	.	294;205;301	F5GXE4;B4E107;O95260-2	.;.;.	V	301;205;294	.	ENSP00000358036:A205V	A	-	2	0	ATE1	123648386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.229000	0.72294	1.362000	0.46000	0.655000	0.94253	GCC		0.428	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		25	81	0	0	0	1	0	25	81				
DICER1	23405	broad.mit.edu	37	14	95590933	95590933	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:95590933C>A	ENST00000526495.1	-	10	1267	c.976G>T	c.(976-978)Gta>Tta	p.V326L	DICER1_ENST00000541352.1_Missense_Mutation_p.V326L|DICER1_ENST00000393063.1_Missense_Mutation_p.V326L|DICER1_ENST00000343455.3_Missense_Mutation_p.V326L|DICER1_ENST00000527414.1_Missense_Mutation_p.V326L			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	326	Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGTTCTCTTACCATCATTCCA	0.378			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(976-978)Gta>Tta		dicer 1, ribonuclease type III							93.0	92.0	92.0					14																	95590933		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95590933C>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.976G>T	14.37:g.95590933C>A	ENSP00000437256:p.Val326Leu					DICER1_ENST00000343455.3_Missense_Mutation_p.V326L|DICER1_ENST00000541352.1_Missense_Mutation_p.V326L|DICER1_ENST00000393063.1_Missense_Mutation_p.V326L|DICER1_ENST00000527414.1_Missense_Mutation_p.V326L	p.V326L			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	10	1267	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	326			Required for interaction with PRKRA and TARBP2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.976G>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583882	0.46110	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.88	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.45875	0.1364	L	0.33485	1.01	0.80722	D	1	D	0.55605	0.972	P	0.46510	0.519	T	0.39961	-0.9588	10	0.02654	T	1	-21.5349	19.4888	0.95042	0.0:1.0:0.0:0.0	.	326	Q9UPY3	DICER_HUMAN	L	326	ENSP00000343745:V326L;ENSP00000437256:V326L;ENSP00000376783:V326L;ENSP00000435681:V326L;ENSP00000444719:V326L	ENSP00000343745:V326L	V	-	1	0	DICER1	94660686	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.267000	0.78462	2.607000	0.88179	0.585000	0.79938	GTA		0.378	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			9	101	1	0	4.68919e-08	1	4.83164e-08	9	101				
TLN2	83660	broad.mit.edu	37	15	63125774	63125774	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:63125774C>T	ENST00000561311.1	+	54	7304	c.7074C>T	c.(7072-7074)agC>agT	p.S2358S	TLN2_ENST00000306829.6_Silent_p.S2358S|RP11-1069G10.1_ENST00000558888.1_RNA|RP11-1069G10.1_ENST00000558404.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2358	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTGCCACAAGCGCCCTGGTCA	0.537																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(7072-7074)agC>agT		talin 2							97.0	98.0	98.0					15																	63125774		2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63125774C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7074C>T	15.37:g.63125774C>T						RP11-1069G10.1_ENST00000558888.1_RNA|TLN2_ENST00000306829.6_Silent_p.S2358S	p.S2358S			Q9Y4G6	TLN2_HUMAN			54	7304	+			2358			I/LWEQ.		A6NLB8	Silent	SNP	ENST00000561311.1	37	c.7074C>T	CCDS32261.1																																																																																				0.537	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			31	125	0	0	0	1	0	31	125				
IL4R	3566	broad.mit.edu	37	16	27367196	27367196	+	Silent	SNP	C	C	T	rs140725309		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:27367196C>T	ENST00000395762.2	+	8	997	c.738C>T	c.(736-738)gcC>gcT	p.A246A	IL4R_ENST00000543915.2_Silent_p.A246A|IL4R_ENST00000380922.3_Silent_p.A231A|IL4R_ENST00000170630.2_Silent_p.A246A|IL4R_ENST00000565915.1_3'UTR	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	246					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.A246A(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TCATCCTGGCCGTCTGCCTGT	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18055	0.0		0.0	False		,,,				2504	0.0					ENST00000395762.2																			1	Substitution - coding silent(1)	p.A246A(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(736-738)gcC>gcT		interleukin 4 receptor		C		9,4385	15.5+/-35.6	0,9,2188	139.0	109.0	119.0		738	-0.2	0.0	16	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	IL4R	NM_000418.2		0,9,6488	TT,TC,CC		0.0,0.2048,0.0693		246/826	27367196	9,12985	2197	4300	6497	SO:0001819	synonymous_variant	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27367196C>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.738C>T	16.37:g.27367196C>T						IL4R_ENST00000380922.3_Silent_p.A231A|IL4R_ENST00000543915.2_Silent_p.A246A|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_Silent_p.A246A	p.A246A	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			8	997	+			246					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	37	c.738C>T	CCDS10629.1																																																																																				0.622	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			27	109	0	0	0	1	0	27	109				
ISL2	64843	broad.mit.edu	37	15	76632620	76632620	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:76632620C>T	ENST00000290759.4	+	4	675	c.515C>T	c.(514-516)gCt>gTt	p.A172V	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	172					negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						CTGGCAGACGCTGGGTCGGGC	0.716																																					GBM(97;953 1391 16164 31496 36951)	ENST00000290759.4																			0				breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(514-516)gCt>gTt		ISL LIM homeobox 2							13.0	15.0	14.0					15																	76632620		2158	4239	6397	SO:0001583	missense	64843					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:76632620C>T	AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"""Homeoboxes / LIM class"""	18524	protein-coding gene	gene with protein product		609481	"""ISL2 transcription factor, LIM/homeodomain, (islet-2)"""				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.515C>T	15.37:g.76632620C>T	ENSP00000290759:p.Ala172Val					RP11-685G9.2_ENST00000559539.1_RNA	p.A172V	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN			4	675	+			172					B3KM37	Missense_Mutation	SNP	ENST00000290759.4	37	c.515C>T	CCDS10290.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648567	0.67358	.	.	ENSG00000159556	ENST00000290759	D	0.85339	-1.97	4.86	4.86	0.63082	.	0.222248	0.47455	D	0.000224	T	0.74168	0.3681	N	0.14661	0.345	0.32218	N	0.575651	B	0.02656	0.0	B	0.06405	0.002	T	0.71941	-0.4440	10	0.27785	T	0.31	.	15.8241	0.78683	0.0:1.0:0.0:0.0	.	172	Q96A47	ISL2_HUMAN	V	172	ENSP00000290759:A172V	ENSP00000290759:A172V	A	+	2	0	ISL2	74419675	0.594000	0.26849	0.212000	0.23672	0.018000	0.09664	5.874000	0.69652	2.392000	0.81423	0.555000	0.69702	GCT		0.716	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289779.1			5	17	0	0	0	1	0	5	17				
TMPO	7112	broad.mit.edu	37	12	98941405	98941405	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:98941405T>C	ENST00000556029.1	+	9	1490	c.1134T>C	c.(1132-1134)agT>agC	p.S378S	TMPO_ENST00000393053.2_Silent_p.S269S|TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000343315.5_Silent_p.S338S	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	378	Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TAGAACTCAGTGATTTCAGGA	0.428																																						ENST00000556029.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1132-1134)agT>agC		thymopoietin							64.0	68.0	66.0					12																	98941405		2203	4300	6503	SO:0001819	synonymous_variant	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98941405T>C		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.1134T>C	12.37:g.98941405T>C						TMPO_ENST00000343315.5_Silent_p.S338S|TMPO_ENST00000393053.2_Silent_p.S269S|TMPO_ENST00000548223.1_3'UTR	p.S378S	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN			9	1490	+			378			Nucleoplasmic (Potential).		A2T926|Q14861	Silent	SNP	ENST00000556029.1	37	c.1134T>C	CCDS31879.1																																																																																				0.428	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		9	93	0	0	0	1	0	9	93				
FBXO11	80204	broad.mit.edu	37	2	48040949	48040949	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:48040949T>C	ENST00000403359.3	-	17	2136	c.2064A>G	c.(2062-2064)ggA>ggG	p.G688G	FBXO11_ENST00000402508.1_Silent_p.G604G|FBXO11_ENST00000316377.4_Silent_p.G604G|FBXO11_ENST00000434523.2_Silent_p.G112G	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	688					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAACTAGAATTCCACCATTCT	0.393			"""Mis, F, D"""		DLBCL																																	ENST00000403359.3				Rec	yes		2	2p16.3	80204	"""Mis, F, D"""	F-box protein 11			L			DLBCL		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(2062-2064)ggA>ggG		F-box protein 11							119.0	117.0	117.0					2																	48040949		2202	4300	6502	SO:0001819	synonymous_variant	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48040949T>C	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2064A>G	2.37:g.48040949T>C						FBXO11_ENST00000434523.2_Silent_p.G112G|FBXO11_ENST00000402508.1_Silent_p.G604G|FBXO11_ENST00000316377.4_Silent_p.G604G	p.G688G	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		17	2136	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	688					A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Silent	SNP	ENST00000403359.3	37	c.2064A>G	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	T	9.154	1.017008	0.19355	.	.	ENSG00000138081	ENST00000493962	.	.	.	5.43	2.99	0.34606	.	.	.	.	.	T	0.42877	0.1222	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37430	-0.9706	4	.	.	.	-12.1201	0.621	0.00778	0.2614:0.1277:0.2764:0.3345	.	.	.	.	D	480	.	.	N	-	1	0	FBXO11	47894453	0.982000	0.34865	1.000000	0.80357	0.998000	0.95712	0.074000	0.14662	0.952000	0.37798	0.533000	0.62120	AAT		0.393	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		4	56	0	0	0	1	0	4	56				
OR2M5	127059	broad.mit.edu	37	1	248308700	248308700	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:248308700A>G	ENST00000366476.1	+	1	251	c.251A>G	c.(250-252)aAc>aGc	p.N84S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATGGCCTTCAACTACTTGTCT	0.498																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(250-252)aAc>aGc		olfactory receptor, family 2, subfamily M, member 5							336.0	322.0	327.0					1																	248308700		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308700A>G		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.251A>G	1.37:g.248308700A>G	ENSP00000355432:p.Asn84Ser						p.N84S	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	251	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		84						Missense_Mutation	SNP	ENST00000366476.1	37	c.251A>G	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	a	10.12	1.264137	0.23136	.	.	ENSG00000162727	ENST00000366476	T	0.00468	7.22	3.28	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34362	U	0.004031	T	0.00356	0.0011	L	0.42487	1.325	0.09310	N	1	B	0.30824	0.296	B	0.31191	0.125	T	0.46456	-0.9190	10	0.56958	D	0.05	.	6.3432	0.21335	0.6838:0.0:0.3162:0.0	.	84	A3KFT3	OR2M5_HUMAN	S	84	ENSP00000355432:N84S	ENSP00000355432:N84S	N	+	2	0	OR2M5	246375323	0.000000	0.05858	0.998000	0.56505	0.948000	0.59901	-3.653000	0.00402	1.250000	0.43966	0.403000	0.27427	AAC		0.498	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		10	413	0	0	0	1	0	10	413				
PKHD1L1	93035	broad.mit.edu	37	8	110457746	110457746	+	Missense_Mutation	SNP	G	G	A	rs201130267	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:110457746G>A	ENST00000378402.5	+	38	5752	c.5648G>A	c.(5647-5649)cGc>cAc	p.R1883H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1883	IPT/TIG 11.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R1883H(1)|p.R1885H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCTACTGCCGCACTCCCGCT	0.438										HNSCC(38;0.096)																												ENST00000378402.5																			2	Substitution - Missense(2)	p.R1883H(1)|p.R1885H(1)	prostate(2)	NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(5647-5649)cGc>cAc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							46.0	47.0	46.0					8																	110457746		1917	4138	6055	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457746G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5648G>A	8.37:g.110457746G>A	ENSP00000367655:p.Arg1883His	HNSCC(38;0.096)					p.R1883H	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5752	+			1883			IPT/TIG 11.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5648G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	1.039	-0.679434	0.03353	.	.	ENSG00000205038	ENST00000378402	T	0.76968	-1.06	5.91	-9.23	0.00672	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	1.395380	0.04182	N	0.326632	T	0.59542	0.2201	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46359	-0.9197	10	0.14656	T	0.56	.	11.9795	0.53111	0.7161:0.0:0.139:0.1449	.	1883	Q86WI1	PKHL1_HUMAN	H	1883	ENSP00000367655:R1883H	ENSP00000367655:R1883H	R	+	2	0	PKHD1L1	110526922	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-2.163000	0.01276	-1.620000	0.01564	-0.880000	0.02959	CGC		0.438	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		5	26	0	0	0	1	0	5	26				
EIF1AD	84285	broad.mit.edu	37	11	65766125	65766125	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:65766125T>C	ENST00000312234.2	-	6	777	c.443A>G	c.(442-444)aAc>aGc	p.N148S	EIF1AD_ENST00000533544.1_Missense_Mutation_p.N148S|EIF1AD_ENST00000529964.1_Missense_Mutation_p.N148S|EIF1AD_ENST00000527249.1_Missense_Mutation_p.N148S|EIF1AD_ENST00000525767.1_Missense_Mutation_p.N96S|EIF1AD_ENST00000526451.1_Missense_Mutation_p.N148S	NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3	NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A domain containing	148						intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	translation initiation factor activity (GO:0003743)			lung(5)	5						CTGTCTGCGGTTTGTGTTAAC	0.532																																						ENST00000312234.2																			0				lung(5)	5						c.(442-444)aAc>aGc		eukaryotic translation initiation factor 1A domain containing							187.0	177.0	181.0					11																	65766125		2201	4296	6497	SO:0001583	missense	84285					nucleus	translation initiation factor activity	g.chr11:65766125T>C	AK094129	CCDS8124.1	11q13.1	2009-05-27				ENSG00000175376			28147	protein-coding gene	gene with protein product						12477932	Standard	NM_001242482		Approved	MGC11102, haponin	uc001ogn.2	Q8N9N8		ENST00000312234.2:c.443A>G	11.37:g.65766125T>C	ENSP00000309175:p.Asn148Ser					EIF1AD_ENST00000525767.1_Missense_Mutation_p.N96S|EIF1AD_ENST00000527249.1_Missense_Mutation_p.N148S|EIF1AD_ENST00000533544.1_Missense_Mutation_p.N148S|EIF1AD_ENST00000526451.1_Missense_Mutation_p.N148S	p.N148S	NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3	NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2	Q8N9N8	EIF1A_HUMAN			6	777	-			148					B2R4N5|Q9BSC1	Missense_Mutation	SNP	ENST00000312234.2	37	c.443A>G	CCDS8124.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.781072	0.49891	.	.	ENSG00000175376	ENST00000526451;ENST00000312234;ENST00000525767;ENST00000533544;ENST00000527249	T;T;T;T;T	0.55930	1.1;1.1;0.49;1.1;1.1	5.17	4.03	0.46877	.	0.048304	0.85682	D	0.000000	T	0.67646	0.2915	M	0.84948	2.725	0.50313	D	0.999861	D	0.62365	0.991	P	0.57101	0.813	T	0.70718	-0.4795	10	0.87932	D	0	.	9.207	0.37296	0.0:0.0869:0.0:0.9131	.	148	Q8N9N8	EIF1A_HUMAN	S	148;148;96;148;148	ENSP00000436644:N148S;ENSP00000309175:N148S;ENSP00000434796:N96S;ENSP00000434056:N148S;ENSP00000435439:N148S	ENSP00000309175:N148S	N	-	2	0	EIF1AD	65522701	1.000000	0.71417	0.997000	0.53966	0.245000	0.25701	5.686000	0.68211	0.806000	0.34183	-0.304000	0.09214	AAC		0.532	EIF1AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391072.1	NM_032325		5	281	0	0	0	1	0	5	281				
PCDH7	5099	broad.mit.edu	37	4	30921832	30921832	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:30921832T>C	ENST00000543491.1	+	2	3232	c.3232T>C	c.(3232-3234)Tca>Cca	p.S1078P	PCDH7_ENST00000509925.1_3'UTR			O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ACATCAGGGGTCACTGCAGAG	0.502																																						ENST00000543491.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(3232-3234)Tca>Cca		protocadherin 7							89.0	94.0	92.0					4																	30921832		2088	4224	6312	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30921832T>C	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000543491.1:c.3232T>C	4.37:g.30921832T>C	ENSP00000441802:p.Ser1078Pro					PCDH7_ENST00000509925.1_3'UTR	p.S1078P			O60245	PCDH7_HUMAN			2	3232	+			0					O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000543491.1	37	c.3232T>C	CCDS54753.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.82|16.82	3.229150|3.229150	0.58777|0.58777	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000543491;ENST00000333135|ENST00000511884	T|.	0.63096|.	-0.02|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|.	.|.	.|.	.|.	T|T	0.74642|0.74642	0.3743|0.3743	M|M	0.72894|0.72894	2.215|2.215	0.52501|0.52501	D|D	0.99995|0.99995	B;B|.	0.26902|.	0.163;0.163|.	B;B|.	0.35813|.	0.134;0.211|.	T|T	0.74518|0.74518	-0.3639|-0.3639	9|5	0.87932|.	D|.	0|.	.|.	16.3322|16.3322	0.83039|0.83039	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1078;1031|.	F5GWJ1;O60245-3|.	.;.|.	P|A	1078;1031|767	ENSP00000441802:S1078P|.	ENSP00000330302:S1031P|.	S|V	+|+	1|2	0|0	PCDH7|PCDH7	30530930|30530930	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.573000|7.573000	0.82421|0.82421	2.251000|2.251000	0.74343|0.74343	0.528000|0.528000	0.53228|0.53228	TCA|GTC		0.502	PCDH7-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032457, NM_002589		8	86	0	0	0	1	0	8	86				
GOT2	2806	broad.mit.edu	37	16	58752199	58752199	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:58752199T>C	ENST00000245206.5	-	6	731	c.603A>G	c.(601-603)atA>atG	p.I201M	GOT2_ENST00000434819.2_Missense_Mutation_p.I158M|GOT2_ENST00000564400.1_5'UTR	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	201					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	TCTGCTCTGGTATTTTCTAAA	0.463																																						ENST00000245206.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22						c.(601-603)atA>atG		glutamic-oxaloacetic transaminase 2, mitochondrial	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						65.0	63.0	64.0					16																	58752199		2198	4300	6498	SO:0001583	missense	2806				aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	g.chr16:58752199T>C		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"""kynurenine aminotransferase IV"", ""aspartate aminotransferase 2"", ""aspartate transaminase 2"""	138150	"""glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"""			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.603A>G	16.37:g.58752199T>C	ENSP00000245206:p.Ile201Met					GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.I158M	p.I201M	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN			6	731	-			201					B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	c.603A>G	CCDS10801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.16|16.16	3.044938|3.044938	0.55110|0.55110	.|.	.|.	ENSG00000125166|ENSG00000125166	ENST00000245206;ENST00000434819|ENST00000425685	T;T|.	0.23348|.	1.91;1.91|.	5.73|5.73	-11.5|-11.5	0.00074|0.00074	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.218030|.	0.53938|.	N|.	0.000050|.	T|T	0.41396|0.41396	0.1157|0.1157	L|L	0.45422|0.45422	1.42|1.42	0.58432|0.58432	D|D	0.999998|0.999998	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.13407|.	0.008;0.009|.	T|T	0.50294|0.50294	-0.8845|-0.8845	9|5	.|.	.|.	.|.	-14.6139|-14.6139	3.1477|3.1477	0.06477|0.06477	0.317:0.3731:0.2127:0.0972|0.317:0.3731:0.2127:0.0972	.|.	158;201|.	E7ERW2;P00505|.	.;AATM_HUMAN|.	M|C	201;158|162	ENSP00000245206:I201M;ENSP00000394100:I158M|.	.|.	I|Y	-|-	3|2	3|0	GOT2|GOT2	57309700|57309700	0.292000|0.292000	0.24362|0.24362	0.680000|0.680000	0.29994|0.29994	0.984000|0.984000	0.73092|0.73092	-0.616000|-0.616000	0.05591|0.05591	-1.981000|-1.981000	0.00989|0.00989	0.459000|0.459000	0.35465|0.35465	ATA|TAC		0.463	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			11	80	0	0	0	1	0	11	80				
IGKV2D-24	28885	broad.mit.edu	37	2	90044343	90044343	+	RNA	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:90044343T>C	ENST00000462693.1	+	0	294									immunoglobulin kappa variable 2D-24 (non-functional)																		ACAGATTCAGTGGCAGTGGGG	0.507																																						ENST00000462693.1																			0																				99.0	102.0	101.0					2																	90044343		1830	4075	5905			28885							g.chr2:90044343T>C	X63401		2p11.2	2012-02-08	2008-09-10		ENSG00000241566	ENSG00000241566		"""Immunoglobulins / IGK locus"""	5797	other	immunoglobulin gene			"""immunoglobulin kappa variable 2D-24"""				Standard	NG_000833		Approved				OTTHUMG00000151618		2.37:g.90044343T>C														0	294	+									RNA	SNP	ENST00000462693.1	37																																																																																						0.507	IGKV2D-24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323290.1	NG_000833		7	302	0	0	0	1	0	7	302				
SCG2	7857	broad.mit.edu	37	2	224462507	224462507	+	Silent	SNP	G	G	A	rs376949693		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:224462507G>A	ENST00000305409.2	-	2	1726	c.1494C>T	c.(1492-1494)aaC>aaT	p.N498N		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GATCCTTGTCGTTCAGGTTTT	0.453																																						ENST00000305409.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44						c.(1492-1494)aaC>aaT		secretogranin II							186.0	160.0	169.0					2																	224462507		2203	4300	6503	SO:0001819	synonymous_variant	7857				angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	g.chr2:224462507G>A	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1494C>T	2.37:g.224462507G>A							p.N498N	NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	1726	-		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)	498					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000305409.2	37	c.1494C>T	CCDS2457.1																																																																																				0.453	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469		31	121	0	0	0	1	0	31	121				
TLN1	7094	broad.mit.edu	37	9	35706785	35706785	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35706785G>A	ENST00000314888.9	-	38	5421	c.5068C>T	c.(5068-5070)Cgt>Tgt	p.R1690C	TLN1_ENST00000540444.1_Splice_Site_p.L1690F|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1690	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.R1690S(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATTCCCTCACGGGGAGCAAGC	0.532																																						ENST00000314888.9																			1	Substitution - Missense(1)	p.R1690S(1)	lung(1)	NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(5068-5070)Cgt>Tgt		talin 1							91.0	100.0	97.0					9																	35706785		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35706785G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5068C>T	9.37:g.35706785G>A	ENSP00000316029:p.Arg1690Cys					TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Splice_Site_p.L1690_splice	p.R1690C	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		38	5421	-	all_epithelial(49;0.167)		1690			Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.5068C>T	CCDS35009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.13|19.13	3.768179|3.768179	0.69878|0.69878	.|.	.|.	ENSG00000137076|ENSG00000137076	ENST00000540444|ENST00000314888	T|T	0.69435|0.71698	-0.4|-0.59	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84202|0.84202	0.5420|0.5420	M|M	0.86953|0.86953	2.85|2.85	0.24866|0.24866	N|N	0.992313|0.992313	.|D	.|0.89917	.|1.0	.|P	.|0.62184	.|0.899	T|T	0.79490|0.79490	-0.1782|-0.1782	7|10	0.30854|0.87932	T|D	0.27|0	-7.7472|-7.7472	14.3567|14.3567	0.66742|0.66742	0.0:0.0:0.852:0.148|0.0:0.0:0.852:0.148	.|.	.|1690	.|Q9Y490	.|TLN1_HUMAN	F|C	1690|1690	ENSP00000442981:L1690F|ENSP00000316029:R1690C	ENSP00000442981:L1690F|ENSP00000316029:R1690C	L|R	-|-	1|1	0|0	TLN1|TLN1	35696785|35696785	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.489000|2.489000	0.45285|0.45285	2.607000|2.607000	0.88179|0.88179	0.561000|0.561000	0.74099|0.74099	CTC|CGT		0.532	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		44	123	0	0	0	1	0	44	123				
ZNF764	92595	broad.mit.edu	37	16	30566842	30566842	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30566842C>T	ENST00000252797.2	-	3	980	c.900G>A	c.(898-900)tcG>tcA	p.S300S	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000395091.2_Silent_p.S299S	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GCCGCAGGTCCGAGGGGTAGG	0.726																																						ENST00000395091.2																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(895-897)tcG>tcA		zinc finger protein 764							7.0	9.0	8.0					16																	30566842		2134	4170	6304	SO:0001819	synonymous_variant	92595				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30566842C>T	BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"""Zinc fingers, C2H2-type"", ""-"""	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.900G>A	16.37:g.30566842C>T						ZNF764_ENST00000252797.2_Silent_p.S300S|AC002310.13_ENST00000568114.1_Intron	p.S299S			Q96H86	ZN764_HUMAN			3	1212	-			300					A8MZF4|B3KSN2|H9KV99|Q9BWS1	Silent	SNP	ENST00000252797.2	37	c.897G>A	CCDS10683.1																																																																																				0.726	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1	NM_033410		9	21	0	0	0	1	0	9	21				
TAS2R50	259296	broad.mit.edu	37	12	11138911	11138911	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:11138911C>T	ENST00000506868.1	-	1	600	c.549G>A	c.(547-549)tgG>tgA	p.W183*	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	183					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						GTATGAAGCTCCATAGGGTAG	0.403																																						ENST00000506868.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						c.(547-549)tgG>tgA		taste receptor, type 2, member 50							136.0	119.0	125.0					12																	11138911		2203	4300	6503	SO:0001587	stop_gained	259296				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11138911C>T	AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.549G>A	12.37:g.11138911C>T	ENSP00000424040:p.Trp183*					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.W183*	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN			1	600	-			183					P59545|Q2M255|Q645Y0	Nonsense_Mutation	SNP	ENST00000506868.1	37	c.549G>A	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	C	9.699	1.153860	0.21371	.	.	ENSG00000212126	ENST00000506868	.	.	.	2.19	-4.39	0.03611	.	6.604930	0.00769	U	0.001198	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	0.9199	0.01312	0.1466:0.243:0.2946:0.3159	.	.	.	.	X	183	.	ENSP00000424040:W183X	W	-	3	0	TAS2R50	11030178	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.891000	0.01611	-1.623000	0.01558	-0.802000	0.03209	TGG		0.403	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		42	152	0	0	0	1	0	42	152				
NLE1	54475	broad.mit.edu	37	17	33460199	33460199	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:33460199C>A	ENST00000442241.4	-	12	1475	c.1436G>T	c.(1435-1437)tGc>tTc	p.C479F	NLE1_ENST00000586869.1_Missense_Mutation_p.C187F|NLE1_ENST00000360831.5_Missense_Mutation_p.C437F	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	479					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CATCCGGAGGCATTTGTCCTT	0.552																																						ENST00000586869.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22						c.(559-561)tGc>tTc		notchless homolog 1 (Drosophila)							221.0	155.0	178.0					17																	33460199		2203	4300	6503	SO:0001583	missense	54475					nucleolus		g.chr17:33460199C>A		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.1436G>T	17.37:g.33460199C>A	ENSP00000413572:p.Cys479Phe					NLE1_ENST00000442241.4_Missense_Mutation_p.C479F|NLE1_ENST00000360831.5_Missense_Mutation_p.C437F	p.C187F			Q9NVX2	NLE1_HUMAN			11	1579	-		Ovarian(249;0.17)	479					O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	ENST00000442241.4	37	c.560G>T	CCDS11291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.36|17.36	3.369036|3.369036	0.61624|0.61624	.|.	.|.	ENSG00000073536|ENSG00000073536	ENST00000436188|ENST00000442241;ENST00000360831;ENST00000537697	.|T	.|0.60040	.|0.22	5.41|5.41	5.41|5.41	0.78517|0.78517	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);G-protein, beta subunit (1);	.|0.087738	.|0.85682	.|D	.|0.000000	T|T	0.49898|0.49898	0.1584|0.1584	N|N	0.04768|0.04768	-0.165|-0.165	0.80722|0.80722	D|D	1|1	.|D	.|0.54397	.|0.966	.|P	.|0.52856	.|0.711	T|T	0.59789|0.59789	-0.7388|-0.7388	5|10	.|0.62326	.|D	.|0.03	-27.2296|-27.2296	16.7269|16.7269	0.85424|0.85424	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|479	.|Q9NVX2	.|NLE1_HUMAN	S|F	298|479;187;455	.|ENSP00000413572:C479F	.|ENSP00000354075:C187F	A|C	-|-	1|2	0|0	NLE1|NLE1	30484312|30484312	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.894000|6.894000	0.75655|0.75655	2.802000|2.802000	0.96397|0.96397	0.563000|0.563000	0.77884|0.77884	GCC|TGC		0.552	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		4	124	1	0	0.00116845	1	0.00118101	4	124				
MAPKAPK3	7867	broad.mit.edu	37	3	50677902	50677902	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:50677902C>T	ENST00000446044.1	+	5	921	c.325C>T	c.(325-327)Cat>Tat	p.H109Y	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.H109Y	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	109	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GAACATGCACCATGGCAAGCG	0.607																																						ENST00000446044.1																			0				central_nervous_system(1)|ovary(1)	2						c.(325-327)Cat>Tat		mitogen-activated protein kinase-activated protein kinase 3							172.0	161.0	165.0					3																	50677902		2203	4300	6503	SO:0001583	missense	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50677902C>T	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.325C>T	3.37:g.50677902C>T	ENSP00000396467:p.His109Tyr					MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.H109Y	p.H109Y	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	5	921	+			109			Protein kinase.		B5BU67	Missense_Mutation	SNP	ENST00000446044.1	37	c.325C>T	CCDS2832.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439232	0.83885	.	.	ENSG00000114738	ENST00000446044;ENST00000430409;ENST00000357955;ENST00000457064	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.58	4.67	0.58626	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.299670	0.36555	N	0.002524	T	0.48447	0.1500	L	0.51853	1.615	0.32923	D	0.516137	P	0.44734	0.842	P	0.46419	0.516	T	0.58989	-0.7538	10	0.33141	T	0.24	-31.6681	14.2744	0.66170	0.2593:0.7407:0.0:0.0	.	109	Q16644	MAPK3_HUMAN	Y	109	ENSP00000396467:H109Y;ENSP00000410970:H109Y;ENSP00000350639:H109Y;ENSP00000402045:H109Y	ENSP00000350639:H109Y	H	+	1	0	MAPKAPK3	50652906	0.957000	0.32711	0.930000	0.37139	0.991000	0.79684	4.912000	0.63335	2.624000	0.88883	0.655000	0.94253	CAT		0.607	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		5	295	0	0	0	1	0	5	295				
AIF1	199	broad.mit.edu	37	6	31584617	31584617	+	Silent	SNP	G	G	A	rs148972430		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:31584617G>A	ENST00000376059.3	+	6	530	c.384G>A	c.(382-384)gcG>gcA	p.A128A	AIF1_ENST00000376049.4_Silent_p.A74A	NM_001623.3	NP_001614.3	P55008	AIF1_HUMAN	allograft inflammatory factor 1	128					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cellular response to interferon-gamma (GO:0071346)|inflammatory response (GO:0006954)|microglial cell activation (GO:0001774)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell proliferation (GO:0048662)|phagocytosis, engulfment (GO:0006911)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|Rac protein signal transduction (GO:0016601)|ruffle assembly (GO:0097178)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|ruffle membrane (GO:0032587)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			lung(2)|ovary(1)	3						AGGAAAAAGCGAGAGAAAAGG	0.488																																					Ovarian(23;358 734 36938 38933 52312)	ENST00000376059.3																			0				lung(2)|ovary(1)	3						c.(382-384)gcG>gcA		allograft inflammatory factor 1		G	,,	0,4406		0,0,2203	77.0	76.0	76.0		384,,222	-8.0	0.9	6	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3,coding-synonymous	AIF1	NM_001623.3,NM_004847.3,NM_032955.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	128/148,,74/94	31584617	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	199				actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding	g.chr6:31584617G>A	U19713	CCDS4706.1, CCDS34398.1	6p21.3	2013-01-10			ENSG00000204472	ENSG00000204472		"""EF-hand domain containing"""	352	protein-coding gene	gene with protein product	"""interferon gamma responsive transcript"", ""ionized calcium-binding adapter molecule 1"""	601833				8912632	Standard	NM_032955		Approved	IRT-1, AIF-1, Em:AF129756.17, IBA1	uc003nuy.3	P55008	OTTHUMG00000031246	ENST00000376059.3:c.384G>A	6.37:g.31584617G>A						AIF1_ENST00000376049.4_Silent_p.A74A	p.A128A	NM_001623.3	NP_001614.3	P55008	AIF1_HUMAN			6	530	+			128					A8K406|O43904|Q9UIV4|Q9UKS9	Silent	SNP	ENST00000376059.3	37	c.384G>A	CCDS4706.1																																																																																				0.488	AIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076512.3			15	69	0	0	0	1	0	15	69				
PCDHB16	57717	broad.mit.edu	37	5	140563545	140563545	+	Missense_Mutation	SNP	G	G	A	rs143024827		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140563545G>A	ENST00000361016.2	+	1	2566	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	471	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCACATCGGCAGCGTCAG	0.622																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1411-1413)Ggc>Agc									76.0	75.0	75.0					5																	140563545		2203	4296	6499	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563545G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1411G>A	5.37:g.140563545G>A	ENSP00000354293:p.Gly471Ser						p.G471S	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2566	+			471			Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1411G>A	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	23.3	4.396001	0.83011	.	.	ENSG00000196963	ENST00000361016	T	0.04317	3.65	4.26	4.26	0.50523	Cadherin (3);Cadherin-like (1);	0.000000	0.35040	N	0.003483	T	0.20780	0.0500	M	0.75085	2.285	0.36422	D	0.864403	D	0.89917	1.0	D	0.81914	0.995	T	0.14896	-1.0456	10	0.45353	T	0.12	.	16.3541	0.83228	0.0:0.0:1.0:0.0	.	471	Q9NRJ7	PCDBG_HUMAN	S	471	ENSP00000354293:G471S	ENSP00000354293:G471S	G	+	1	0	PCDHB16	140543729	0.973000	0.33851	0.995000	0.50966	0.858000	0.48976	2.021000	0.41020	1.931000	0.55961	0.580000	0.79431	GGC		0.622	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		4	144	0	0	0	1	0	4	144				
C20orf141	128653	broad.mit.edu	37	20	2796271	2796271	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:2796271T>C	ENST00000380589.4	+	2	522	c.348T>C	c.(346-348)gcT>gcC	p.A116A	TMEM239_ENST00000361033.1_5'Flank|TMEM239_ENST00000554164.1_Intron|TMEM239_ENST00000380585.1_5'Flank|C20orf141_ENST00000603872.1_Silent_p.A116A|TMEM239_ENST00000380593.4_Intron	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	116	Leu-rich.					integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						AGCAGGAGGCTCTACTCCTGC	0.627																																						ENST00000380589.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						c.(346-348)gcT>gcC		chromosome 20 open reading frame 141							54.0	52.0	53.0					20																	2796271		2203	4300	6503	SO:0001819	synonymous_variant	128653					integral to membrane		g.chr20:2796271T>C		CCDS13034.1	20p13	2012-10-30			ENSG00000258713	ENSG00000258713			16134	protein-coding gene	gene with protein product							Standard	NM_001256538		Approved	dJ860F19.4	uc002wgw.3	Q9NUB4	OTTHUMG00000031707	ENST00000380589.4:c.348T>C	20.37:g.2796271T>C						C20orf141_ENST00000603872.1_Silent_p.A116A|TMEM239_ENST00000554164.1_Intron|TMEM239_ENST00000380593.4_Intron	p.A116A	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN			2	522	+			116			Leu-rich.			Silent	SNP	ENST00000380589.4	37	c.348T>C	CCDS13034.1																																																																																				0.627	C20orf141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077644.2	NM_080739		12	43	0	0	0	1	0	12	43				
RARA	5914	broad.mit.edu	37	17	38511548	38511548	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:38511548A>G	ENST00000254066.5	+	8	1501	c.1046A>G	c.(1045-1047)gAc>gGc	p.D349G	RARA_ENST00000420042.1_3'UTR|RARA_ENST00000425707.3_Missense_Mutation_p.D252G|RARA_ENST00000394089.2_Missense_Mutation_p.D349G|RARA_ENST00000394086.3_Missense_Mutation_p.D365G|RARA_ENST00000394081.3_Missense_Mutation_p.D344G	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	349	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GACCGGGTGGACATGCTGCAG	0.652			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL						OREG0024394	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000254066.5				Dom	yes		17	17q12	5914	T	"""retinoic acid receptor, alpha"""			L	"""PML, ZNF145, TIF1, NUMA1, NPM1"""		APL		0				breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16						c.(1045-1047)gAc>gGc		retinoic acid receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)						18.0	20.0	19.0					17																	38511548		2195	4294	6489	SO:0001583	missense	5914				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr17:38511548A>G	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.1046A>G	17.37:g.38511548A>G	ENSP00000254066:p.Asp349Gly		OREG0024394	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	878	RARA_ENST00000394089.2_Missense_Mutation_p.D349G|RARA_ENST00000394081.3_Missense_Mutation_p.D344G|RARA_ENST00000394086.3_Missense_Mutation_p.D365G|RARA_ENST00000425707.3_Missense_Mutation_p.D252G|RARA_ENST00000420042.1_3'UTR	p.D349G	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	STAD - Stomach adenocarcinoma(5;0.00143)		8	1501	+		Breast(137;0.00328)	349			Ligand-binding.		B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	c.1046A>G	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480413	0.84747	.	.	ENSG00000131759	ENST00000254066;ENST00000425707;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000319149;ENST00000420042	D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18	5.35	5.35	0.76521	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97062	0.9040	L	0.46157	1.445	0.80722	D	1	D;B;D	0.89917	1.0;0.256;0.999	D;B;D	0.91635	0.999;0.4;0.993	D	0.97740	1.0208	10	0.87932	D	0	.	14.4397	0.67306	1.0:0.0:0.0:0.0	.	252;344;349	B8Y636;F1D8N9;P10276	.;.;RARA_HUMAN	G	349;252;349;365;344;342;236	ENSP00000254066:D349G;ENSP00000389993:D252G;ENSP00000377649:D349G;ENSP00000377648:D365G;ENSP00000377643:D344G	ENSP00000254066:D349G	D	+	2	0	RARA	35765074	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.139000	0.94554	2.244000	0.73946	0.533000	0.62120	GAC		0.652	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			4	10	0	0	0	1	0	4	10				
MAST4	375449	broad.mit.edu	37	5	66255090	66255090	+	Silent	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:66255090G>T	ENST00000405643.1	+	1	393	c.15G>T	c.(13-15)cgG>cgT	p.R5R	MAST4_ENST00000407621.1_Silent_p.R5R|MAST4_ENST00000404260.3_Intron|MAST4_ENST00000490016.2_Intron|MAST4_ENST00000403625.2_Intron|MAST4_ENST00000403666.1_Intron|MAST4_ENST00000406039.1_Intron|MAST4_ENST00000406374.1_Intron			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	0						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AAGCCCAGCGGGAAAGGCTAC	0.483																																						ENST00000405643.1																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(13-15)cgG>cgT		microtubule associated serine/threonine kinase family member 4							85.0	83.0	84.0					5																	66255090		876	1991	2867	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66255090G>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000405643.1:c.15G>T	5.37:g.66255090G>T						MAST4_ENST00000403625.2_Intron|MAST4_ENST00000406039.1_Intron|MAST4_ENST00000407621.1_Silent_p.R5R|MAST4_ENST00000490016.2_Intron|MAST4_ENST00000404260.3_Intron|MAST4_ENST00000406374.1_Intron|MAST4_ENST00000403666.1_Intron	p.R5R			O15021	MAST4_HUMAN		Lung(70;0.011)	1	393	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1094					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000405643.1	37	c.15G>T																																																																																					0.483	MAST4-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326326.2			15	56	1	0	6.31663e-08	1	6.50258e-08	15	56				
OSBPL11	114885	broad.mit.edu	37	3	125249420	125249420	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:125249420T>C	ENST00000296220.5	-	13	2472	c.2183A>G	c.(2182-2184)gAt>gGt	p.D728G	Y_RNA_ENST00000517156.1_RNA	NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	728					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						AACCCAGCCATCTCCCTGAAA	0.348																																						ENST00000296220.5																			0				NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.(2182-2184)gAt>gGt		oxysterol binding protein-like 11							183.0	168.0	173.0					3																	125249420		2203	4300	6503	SO:0001583	missense	114885				lipid transport		lipid binding	g.chr3:125249420T>C	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.2183A>G	3.37:g.125249420T>C	ENSP00000296220:p.Asp728Gly						p.D728G	NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN			13	2472	-			728					A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	c.2183A>G	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.854640	0.51376	.	.	ENSG00000144909	ENST00000296220	T	0.30981	1.51	5.41	5.41	0.78517	.	0.633028	0.16078	N	0.230657	T	0.34077	0.0885	L	0.36672	1.1	0.80722	D	1	P	0.43938	0.822	P	0.46975	0.533	T	0.02925	-1.1093	10	0.35671	T	0.21	-26.7628	15.612	0.76733	0.0:0.0:0.0:1.0	.	728	Q9BXB4	OSB11_HUMAN	G	728	ENSP00000296220:D728G	ENSP00000296220:D728G	D	-	2	0	OSBPL11	126732110	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.076000	0.76806	2.281000	0.76405	0.533000	0.62120	GAT		0.348	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		9	19	0	0	0	1	0	9	19				
ADAMDEC1	27299	broad.mit.edu	37	8	24254870	24254870	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:24254870C>A	ENST00000256412.4	+	6	748	c.528C>A	c.(526-528)aaC>aaA	p.N176K	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.N97K|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.N97K	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	176					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTACATCTAACCAGGAGGAAC	0.458																																					Ovarian(147;687 1849 3699 25981 31337)	ENST00000538205.1																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(289-291)aaC>aaA		ADAM-like, decysin 1							214.0	206.0	209.0					8																	24254870		2203	4300	6503	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24254870C>A	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.528C>A	8.37:g.24254870C>A	ENSP00000256412:p.Asn176Lys					RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.N97K|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.N176K	p.N97K	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	7	838	+		Prostate(55;0.0181)	176					B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.291C>A	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282028	0.23392	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.02446	4.29;4.3;4.3	4.8	0.596	0.17496	.	0.875796	0.10044	N	0.723087	T	0.01558	0.0050	N	0.08118	0	0.09310	N	1	B	0.19200	0.034	B	0.12837	0.008	T	0.47911	-0.9080	10	0.66056	D	0.02	-1.5339	1.2578	0.01995	0.1794:0.4492:0.1745:0.1969	.	176	O15204	ADEC1_HUMAN	K	176;97;97	ENSP00000256412:N176K;ENSP00000442592:N97K;ENSP00000428993:N97K	ENSP00000256412:N176K	N	+	3	2	ADAMDEC1	24310815	0.019000	0.18553	0.002000	0.10522	0.021000	0.10359	0.221000	0.17680	0.291000	0.22468	0.557000	0.71058	AAC		0.458	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		8	348	1	0	0.000157383	1	0.00015972	8	348				
C1QTNF4	114900	broad.mit.edu	37	11	47612220	47612220	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:47612220A>G	ENST00000302514.3	-	2	659	c.143T>C	c.(142-144)gTg>gCg	p.V48A		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	48	C1q 1. {ECO:0000255|PROSITE- ProRule:PRU00368}.					extracellular space (GO:0005615)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GTCGAAGGTCACCGCCATCTC	0.697																																						ENST00000302514.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						c.(142-144)gTg>gCg		C1q and tumor necrosis factor related protein 4							22.0	22.0	22.0					11																	47612220		2200	4293	6493	SO:0001583	missense	114900					extracellular region		g.chr11:47612220A>G	AF329838	CCDS7942.1	11q11	2008-07-18				ENSG00000172247			14346	protein-coding gene	gene with protein product	"""complement-c1q tumor necrosis factor-related protein 4"""	614911				16094384	Standard	NM_031909		Approved	CTRP4, ZACRP4	uc001ngc.2	Q9BXJ3		ENST00000302514.3:c.143T>C	11.37:g.47612220A>G	ENSP00000302274:p.Val48Ala						p.V48A	NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN			2	659	-			48			C1q 1.		Q8IV25	Missense_Mutation	SNP	ENST00000302514.3	37	c.143T>C	CCDS7942.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.517398	0.85495	.	.	ENSG00000172247	ENST00000302514;ENST00000530097	T;T	0.79352	1.64;-1.26	4.33	3.18	0.36537	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.277007	0.30676	U	0.009104	D	0.83266	0.5217	M	0.88640	2.97	0.41995	D	0.990864	P	0.48089	0.905	P	0.48795	0.59	D	0.84538	0.0637	10	0.87932	D	0	.	10.3	0.43646	0.852:0.0:0.0:0.148	.	48	Q9BXJ3	C1QT4_HUMAN	A	48	ENSP00000302274:V48A;ENSP00000434548:V48A	ENSP00000302274:V48A	V	-	2	0	C1QTNF4	47568796	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	6.022000	0.70839	0.625000	0.30304	0.374000	0.22700	GTG		0.697	C1QTNF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391772.1	NM_031909		8	24	0	0	0	1	0	8	24				
TRIO	7204	broad.mit.edu	37	5	14369559	14369559	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:14369559G>A	ENST00000344204.4	+	18	3167	c.3143G>A	c.(3142-3144)gGc>gAc	p.G1048D	TRIO_ENST00000509967.2_Missense_Mutation_p.G999D|TRIO_ENST00000537187.1_Missense_Mutation_p.G1048D	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1048					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GATAAGCTGGGCCCAAACTCT	0.592																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(3142-3144)gGc>gAc		trio Rho guanine nucleotide exchange factor							93.0	92.0	92.0					5																	14369559		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14369559G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3143G>A	5.37:g.14369559G>A	ENSP00000339299:p.Gly1048Asp					TRIO_ENST00000509967.2_Missense_Mutation_p.G999D|TRIO_ENST00000537187.1_Missense_Mutation_p.G1048D	p.G1048D	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			18	3167	+	Lung NSC(4;0.000742)		1048					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.3143G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669447	0.67814	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.66099	-0.19;-0.18;0.46	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.74261	0.3693	L	0.46614	1.455	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.992;0.983;0.999	T	0.66424	-0.5927	10	0.20046	T	0.44	.	20.1374	0.98035	0.0:0.0:1.0:0.0	.	999;1048;1048	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	D	1048;1048;999;735	ENSP00000339299:G1048D;ENSP00000446348:G1048D;ENSP00000445592:G999D	ENSP00000339299:G1048D	G	+	2	0	TRIO	14422559	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	9.869000	0.99810	2.763000	0.94921	0.563000	0.77884	GGC		0.592	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		22	73	0	0	0	1	0	22	73				
SOX9	6662	broad.mit.edu	37	17	70120498	70120498	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:70120498A>G	ENST00000245479.2	+	3	1872	c.1500A>G	c.(1498-1500)caA>caG	p.Q500Q		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	500					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ACTGGGAACAACCCGTCTACA	0.597																																					Pancreas(42;83 1041 2320 35205 39456)	ENST00000245479.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26						c.(1498-1500)caA>caG		SRY (sex determining region Y)-box 9							54.0	56.0	55.0					17																	70120498		2203	4300	6503	SO:0001819	synonymous_variant	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70120498A>G	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.1500A>G	17.37:g.70120498A>G							p.Q500Q	NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		3	1872	+		Colorectal(1115;0.245)	500					Q53Y80	Silent	SNP	ENST00000245479.2	37	c.1500A>G	CCDS11689.1																																																																																				0.597	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		28	86	0	0	0	1	0	28	86				
ZNF761	388561	broad.mit.edu	37	19	53958820	53958820	+	RNA	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:53958820T>C	ENST00000454407.1	+	0	1512							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GAGAGAAACCTTACAAGTGTA	0.408																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							146.0	146.0	146.0					19																	53958820		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958820T>C	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958820T>C										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1512	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.408	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		7	271	0	0	0	1	0	7	271				
CACNA1B	774	broad.mit.edu	37	9	140901252	140901252	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:140901252T>C	ENST00000371372.1	+	16	2153	c.2008T>C	c.(2008-2010)Tat>Cat	p.Y670H	CACNA1B_ENST00000371357.1_Missense_Mutation_p.Y671H|CACNA1B_ENST00000371355.4_Missense_Mutation_p.Y671H|CACNA1B_ENST00000371363.1_Missense_Mutation_p.Y670H|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.Y670H	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	670					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCAGTGATGTATCACGGGAT	0.567																																						ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(2008-2010)Tat>Cat		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						130.0	132.0	131.0					9																	140901252		2152	4249	6401	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140901252T>C	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2008T>C	9.37:g.140901252T>C	ENSP00000360423:p.Tyr670His					CACNA1B_ENST00000371357.1_Missense_Mutation_p.Y671H|CACNA1B_ENST00000277551.2_Missense_Mutation_p.Y670H|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.Y670H|CACNA1B_ENST00000371355.4_Missense_Mutation_p.Y671H	p.Y670H	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	16	2153	+	all_cancers(76;0.166)		670					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.2008T>C	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	T	17.61	3.431907	0.62844	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42	4.39	4.39	0.52855	.	0.283095	0.35235	N	0.003345	D	0.98175	0.9397	M	0.79693	2.465	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.98994	1.0809	10	0.87932	D	0	.	12.892	0.58076	0.0:0.0:0.0:1.0	.	670;670	B1AQK4;B1AQK6	.;.	H	670;670;670;671;671	ENSP00000360423:Y670H;ENSP00000277551:Y670H;ENSP00000360414:Y670H;ENSP00000360408:Y671H;ENSP00000360406:Y671H	ENSP00000277551:Y670H	Y	+	1	0	CACNA1B	140021073	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	7.532000	0.81985	1.751000	0.51876	0.402000	0.26972	TAT		0.567	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		4	24	0	0	0	1	0	4	24				
FER	2241	broad.mit.edu	37	5	108523240	108523240	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:108523240G>C	ENST00000281092.4	+	20	2817	c.2433G>C	c.(2431-2433)caG>caC	p.Q811H	FER_ENST00000438717.2_Missense_Mutation_p.Q636H	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	811	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTGAACTTCAGAAAGAGCTCA	0.443																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(2431-2433)caG>caC		fer (fps/fes related) tyrosine kinase							78.0	76.0	77.0					5																	108523240		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108523240G>C	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2433G>C	5.37:g.108523240G>C	ENSP00000281092:p.Gln811His					FER_ENST00000438717.2_Missense_Mutation_p.Q636H	p.Q811H	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	20	2817	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	811			Protein kinase.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.2433G>C	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	4.492	0.091169	0.08632	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.34072	1.38;1.38	5.98	0.676	0.17958	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.530434	0.22150	N	0.063936	T	0.11922	0.0290	N	0.02854	-0.475	0.30482	N	0.772238	B	0.02656	0.0	B	0.08055	0.003	T	0.24941	-1.0146	10	0.14252	T	0.57	-0.0093	5.9441	0.19209	0.0616:0.336:0.3823:0.2202	.	811	P16591	FER_HUMAN	H	811;636	ENSP00000281092:Q811H;ENSP00000394297:Q636H	ENSP00000281092:Q811H	Q	+	3	2	FER	108551139	1.000000	0.71417	0.997000	0.53966	0.719000	0.41307	1.594000	0.36697	0.099000	0.17552	-1.102000	0.02115	CAG		0.443	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		21	67	0	0	0	1	0	21	67				
ASNSD1	54529	broad.mit.edu	37	2	190531561	190531561	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:190531561C>T	ENST00000260952.4	+	4	1116	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	235					asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TGAAGCCAAACTGTATCTTGA	0.363																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(703-705)Ctg>Ttg		asparagine synthetase domain containing 1							70.0	76.0	74.0					2																	190531561		2201	4298	6499	SO:0001819	synonymous_variant	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190531561C>T	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.703C>T	2.37:g.190531561C>T						ASNSD1_ENST00000607062.1_Intron	p.L235L	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	1116	+			235					D3DPH6|Q3LIC3|Q4ZG45	Silent	SNP	ENST00000260952.4	37	c.703C>T	CCDS2300.1																																																																																				0.363	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		25	104	0	0	0	1	0	25	104				
PLEC	5339	broad.mit.edu	37	8	145007143	145007143	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145007143C>T	ENST00000322810.4	-	14	2135	c.1966G>A	c.(1966-1968)Gac>Aac	p.D656N	PLEC_ENST00000345136.3_Missense_Mutation_p.D519N|PLEC_ENST00000356346.3_Missense_Mutation_p.D505N|PLEC_ENST00000354958.2_Missense_Mutation_p.D497N|PLEC_ENST00000354589.3_Missense_Mutation_p.D519N|PLEC_ENST00000527096.1_Missense_Mutation_p.D542N|PLEC_ENST00000436759.2_Missense_Mutation_p.D546N|PLEC_ENST00000357649.2_Missense_Mutation_p.D523N|PLEC_ENST00000398774.2_Missense_Mutation_p.D487N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	656	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGAGTGGAGTCCTCCAGCTCG	0.672																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(1966-1968)Gac>Aac		plectin							20.0	24.0	23.0					8																	145007143		2043	4177	6220	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145007143C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1966G>A	8.37:g.145007143C>T	ENSP00000323856:p.Asp656Asn					PLEC_ENST00000527096.1_Missense_Mutation_p.D542N|PLEC_ENST00000356346.3_Missense_Mutation_p.D505N|PLEC_ENST00000436759.2_Missense_Mutation_p.D546N|PLEC_ENST00000357649.2_Missense_Mutation_p.D523N|PLEC_ENST00000354589.3_Missense_Mutation_p.D519N|PLEC_ENST00000398774.2_Missense_Mutation_p.D487N|PLEC_ENST00000345136.3_Missense_Mutation_p.D519N|PLEC_ENST00000354958.2_Missense_Mutation_p.D497N	p.D656N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			14	2135	-			656			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.1966G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001639	0.35320	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	D;D;D;D;D;D;D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07	5.12	4.21	0.49690	.	0.165507	0.38058	U	0.001840	D	0.86406	0.5925	N	0.20766	0.605	0.49798	D	0.999824	B;B;B;B;B;B;B;B	0.28880	0.226;0.226;0.226;0.145;0.226;0.226;0.226;0.226	B;B;B;B;B;B;B;B	0.33620	0.109;0.109;0.109;0.08;0.109;0.167;0.109;0.109	D	0.84516	0.0625	10	0.87932	D	0	.	11.6885	0.51501	0.0:0.9078:0.0:0.0922	.	546;505;497;656;487;519;523;519	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	519;523;519;487;656;497;505;546;542;563	ENSP00000344848:D519N;ENSP00000350277:D523N;ENSP00000346602:D519N;ENSP00000381756:D487N;ENSP00000323856:D656N;ENSP00000347044:D497N;ENSP00000348702:D505N;ENSP00000388180:D546N;ENSP00000434583:D542N;ENSP00000437303:D563N	ENSP00000323856:D656N	D	-	1	0	PLEC	145079131	0.772000	0.28567	0.926000	0.36857	0.202000	0.24057	3.009000	0.49552	1.116000	0.41820	0.643000	0.83706	GAC		0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		12	33	0	0	0	1	0	12	33				
TNXB	7148	broad.mit.edu	37	6	32041536	32041536	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:32041536G>A	ENST00000375244.3	-	12	4770	c.4569C>T	c.(4567-4569)gaC>gaT	p.D1523D	TNXB_ENST00000375247.2_Silent_p.D1523D			P22105	TENX_HUMAN	tenascin XB	1610	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTCTCGCTGGTCTGCCGCCA	0.577																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(4567-4569)gaC>gaT		tenascin XB							26.0	29.0	28.0					6																	32041536		1310	2591	3901	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32041536G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4569C>T	6.37:g.32041536G>A						TNXB_ENST00000375247.2_Silent_p.D1523D	p.D1523D			P22105	TENX_HUMAN			12	4770	-			1610			Fibronectin type-III 7.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.4569C>T																																																																																					0.577	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		13	24	0	0	0	1	0	13	24				
NUP43	348995	broad.mit.edu	37	6	150063646	150063646	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:150063646A>G	ENST00000340413.2	-	4	458	c.382T>C	c.(382-384)Tcc>Ccc	p.S128P	NUP43_ENST00000367403.3_Missense_Mutation_p.S189P|NUP43_ENST00000460354.2_Missense_Mutation_p.S128P|NUP43_ENST00000367404.4_Missense_Mutation_p.S128P|NUP43_ENST00000463048.3_5'Flank	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	128					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CTGCTATAGGAAGGACTGCCA	0.463																																						ENST00000340413.2																			0				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(382-384)Tcc>Ccc		nucleoporin 43kDa							179.0	161.0	167.0					6																	150063646		2203	4300	6503	SO:0001583	missense	348995				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr6:150063646A>G	AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.382T>C	6.37:g.150063646A>G	ENSP00000342262:p.Ser128Pro					NUP43_ENST00000460354.2_Missense_Mutation_p.S128P|NUP43_ENST00000367404.4_Missense_Mutation_p.S128P|NUP43_ENST00000367403.3_Missense_Mutation_p.S189P	p.S128P	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)	4	458	-		Ovarian(120;0.0164)	128					B4E2F0|Q9H8S0	Missense_Mutation	SNP	ENST00000340413.2	37	c.382T>C	CCDS5218.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.541565	0.45280	.	.	ENSG00000120253	ENST00000340413;ENST00000460354;ENST00000367403;ENST00000367404;ENST00000543637	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	4.75	3.55	0.40652	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.259107	0.40554	N	0.001072	T	0.35508	0.0934	N	0.12182	0.205	0.49299	D	0.999776	P;B	0.36733	0.567;0.0	B;B	0.31869	0.137;0.001	T	0.30446	-0.9978	10	0.33141	T	0.24	-5.6431	10.2926	0.43605	0.6577:0.3423:0.0:0.0	.	128;128	B4E2F0;Q8NFH3	.;NUP43_HUMAN	P	128;128;189;128;135	ENSP00000342262:S128P;ENSP00000432401:S128P;ENSP00000356373:S189P;ENSP00000356374:S128P;ENSP00000438031:S135P	ENSP00000342262:S128P	S	-	1	0	NUP43	150105339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.958000	0.49145	0.817000	0.34445	0.533000	0.62120	TCC		0.463	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1	NM_198887		26	122	0	0	0	1	0	26	122				
DSG1	1828	broad.mit.edu	37	18	28935124	28935124	+	Missense_Mutation	SNP	G	G	A	rs145472309		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:28935124G>A	ENST00000257192.4	+	15	3177	c.2965G>A	c.(2965-2967)Ggt>Agt	p.G989S	RP11-534N16.1_ENST00000578119.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G348S|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	989	Gly/Ser-rich.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGCTGGGAGCGGTGCCCTGAG	0.597																																						ENST00000257192.4																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2965-2967)Ggt>Agt		desmoglein 1		A	SER/GLY	5,4401	9.9+/-24.2	0,5,2198	106.0	99.0	101.0		2965	-4.3	0.0	18	dbSNP_134	101	0,8600		0,0,4300	no	missense	DSG1	NM_001942.2	56	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	possibly-damaging	989/1050	28935124	5,13001	2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28935124G>A	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2965G>A	18.37:g.28935124G>A	ENSP00000257192:p.Gly989Ser					DSG1_ENST00000462981.2_Missense_Mutation_p.G348S|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	p.G989S	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		15	3177	+			989			Gly/Ser-rich.		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.2965G>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	g	1.433	-0.569609	0.03910	0.001135	0.0	ENSG00000134760	ENST00000257192	T	0.56103	0.48	4.5	-4.27	0.03744	.	0.615916	0.16267	N	0.221995	T	0.21022	0.0506	N	0.08118	0	0.09310	N	1	B	0.18610	0.029	B	0.06405	0.002	T	0.26608	-1.0098	10	0.11794	T	0.64	.	6.1116	0.20104	0.5259:0.0:0.3472:0.1269	.	989	Q02413	DSG1_HUMAN	S	989	ENSP00000257192:G989S	ENSP00000257192:G989S	G	+	1	0	DSG1	27189122	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.161000	0.10026	-0.447000	0.07138	-0.642000	0.03964	GGT		0.597	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		9	118	0	0	0	1	0	9	118				
SEZ6L	23544	broad.mit.edu	37	22	26688852	26688852	+	Missense_Mutation	SNP	C	C	T	rs138721720	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:26688852C>T	ENST00000248933.6	+	2	670	c.575C>T	c.(574-576)gCg>gTg	p.A192V	SEZ6L_ENST00000529632.2_Missense_Mutation_p.A192V|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A192V|SEZ6L_ENST00000360929.3_Missense_Mutation_p.A192V|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A192V|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000402979.1_5'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	192					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AAGGAGAGTGCGGTCCCTACA	0.667																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(574-576)gCg>gTg		seizure related 6 homolog (mouse)-like							55.0	57.0	56.0					22																	26688852		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26688852C>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.575C>T	22.37:g.26688852C>T	ENSP00000248933:p.Ala192Val					SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.A192V|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A192V|SEZ6L_ENST00000248933.6_Missense_Mutation_p.A192V|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A192V	p.A192V	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			2	771	+			192					A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.575C>T	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	5.620	0.299049	0.10622	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.26810	1.95;2.07;2.14;1.95;1.71	3.82	-0.463	0.12164	.	1.073720	0.07475	N	0.902925	T	0.08447	0.0210	N	0.08118	0	0.09310	N	1	B;B;P;P;B;B	0.37914	0.001;0.001;0.611;0.611;0.001;0.001	B;B;B;B;B;B	0.28465	0.001;0.001;0.043;0.09;0.001;0.001	T	0.19418	-1.0306	10	0.20046	T	0.44	.	1.8959	0.03257	0.1829:0.4267:0.2675:0.123	.	192;192;192;192;192;192	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	V	192	ENSP00000384772:A192V;ENSP00000437037:A192V;ENSP00000354185:A192V;ENSP00000248933:A192V;ENSP00000342661:A192V	ENSP00000248933:A192V	A	+	2	0	SEZ6L	25018852	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.064000	0.14437	0.235000	0.21160	-0.300000	0.09419	GCG		0.667	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			30	138	0	0	0	1	0	30	138				
MORF4L1	10933	broad.mit.edu	37	15	79186493	79186493	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:79186493G>A	ENST00000331268.5	+	11	1044	c.840G>A	c.(838-840)caG>caA	p.Q280Q	MORF4L1_ENST00000379535.4_Silent_p.Q266Q|MORF4L1_ENST00000426013.2_Silent_p.Q241Q|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558746.1_Silent_p.Q214Q|MORF4L1_ENST00000558502.1_Silent_p.Q153Q|MORF4L1_ENST00000559345.1_Silent_p.Q153Q	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	280	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.|Sufficient for interaction with PHF12.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						AGAGACCACAGTATGCTGAAA	0.418																																						ENST00000331268.5																			0				breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						c.(838-840)caG>caA		mortality factor 4 like 1							127.0	131.0	130.0					15																	79186493		2196	4293	6489	SO:0001819	synonymous_variant	10933				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	g.chr15:79186493G>A	AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.840G>A	15.37:g.79186493G>A						MORF4L1_ENST00000558746.1_Silent_p.Q214Q|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000559345.1_Silent_p.Q153Q|MORF4L1_ENST00000558502.1_Silent_p.Q153Q|MORF4L1_ENST00000426013.2_Silent_p.Q241Q|MORF4L1_ENST00000379535.4_Silent_p.Q266Q	p.Q280Q	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN			11	1044	+			280			Sufficient for interaction with PHF12.		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Silent	SNP	ENST00000331268.5	37	c.840G>A	CCDS10307.1																																																																																				0.418	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	NM_006791		59	124	0	0	0	1	0	59	124				
ZKSCAN2	342357	broad.mit.edu	37	16	25251415	25251415	+	Missense_Mutation	SNP	C	C	T	rs146263630	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:25251415C>T	ENST00000328086.7	-	7	3429	c.2626G>A	c.(2626-2628)Gcc>Acc	p.A876T	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	876					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CTCCGGTGGGCGCTGAAATGA	0.453																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(2626-2628)Gcc>Acc		zinc finger with KRAB and SCAN domains 2		C	THR/ALA	1,4393	2.1+/-5.4	0,1,2196	85.0	79.0	81.0		2626	4.7	1.0	16	dbSNP_134	81	6,8594	5.0+/-18.6	0,6,4294	yes	missense	ZKSCAN2	NM_001012981.4	58	0,7,6490	TT,TC,CC		0.0698,0.0228,0.0539	probably-damaging	876/968	25251415	7,12987	2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25251415C>T	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2626G>A	16.37:g.25251415C>T	ENSP00000331626:p.Ala876Thr						p.A876T	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	7	3429	-			876					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.2626G>A	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.425613	0.25639	2.28E-4	6.98E-4	ENSG00000155592	ENST00000328086	T	0.18174	2.23	5.64	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.304622	0.28853	N	0.013939	T	0.06826	0.0174	N	0.04805	-0.155	0.29489	N	0.855764	B;B	0.23591	0.088;0.043	B;B	0.12837	0.008;0.006	T	0.24012	-1.0172	10	0.17832	T	0.49	-4.8782	6.3209	0.21217	0.0:0.7123:0.1851:0.1026	.	672;876	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	T	876	ENSP00000331626:A876T	ENSP00000331626:A876T	A	-	1	0	ZKSCAN2	25158916	0.000000	0.05858	0.998000	0.56505	0.465000	0.32709	-0.883000	0.04170	1.534000	0.49203	0.650000	0.86243	GCC		0.453	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		26	73	0	0	0	1	0	26	73				
PRDM10	56980	broad.mit.edu	37	11	129787023	129787023	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:129787023T>C	ENST00000360871.3	-	15	2555	c.2324A>G	c.(2323-2325)aAg>aGg	p.K775R	PRDM10_ENST00000304538.6_Splice_Site_p.K689R|PRDM10_ENST00000528746.1_Splice_Site_p.K749R|PRDM10_ENST00000526082.1_Splice_Site_p.K693R|PRDM10_ENST00000358825.5_Splice_Site_p.K779R|PRDM10_ENST00000423662.2_Splice_Site_p.K693R	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	779					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCCTTTTACCTTATCGCAATA	0.378																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.e16+1		PR domain containing 10							168.0	152.0	158.0					11																	129787023		2201	4297	6498	SO:0001630	splice_region_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129787023T>C	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2325+1A>G	11.37:g.129787023T>C						PRDM10_ENST00000528746.1_Splice_Site_p.K749_splice|PRDM10_ENST00000360871.3_Splice_Site_p.K775_splice|PRDM10_ENST00000423662.2_Splice_Site_p.K693_splice|PRDM10_ENST00000526082.1_Splice_Site_p.K693_splice|PRDM10_ENST00000304538.6_Splice_Site_p.K689_splice	p.K779_splice	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	16	2567	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	779					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Splice_Site	SNP	ENST00000360871.3	37	c.2337_splice	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.169972	0.57584	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;2.75;1.34;2.71;1.34	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	L	0.32530	0.975	0.54753	D	0.999989	D;D;D;D;D;D	0.89917	0.999;0.998;0.999;0.998;1.0;0.998	D;D;D;D;D;D	0.87578	0.995;0.991;0.995;0.991;0.998;0.991	T	0.47129	-0.9141	10	0.45353	T	0.12	-36.785	15.6564	0.77140	0.0:0.0:0.0:1.0	.	689;775;779;693;689;693	B7ZL72;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;PRD10_HUMAN;.;.;.	R	779;689;775;693;749;693;492	ENSP00000351686:K779R;ENSP00000302669:K689R;ENSP00000354118:K775R;ENSP00000398431:K693R;ENSP00000431262:K749R;ENSP00000432237:K693R;ENSP00000435940:K492R	ENSP00000302669:K689R	K	-	2	0	PRDM10	129292233	1.000000	0.71417	0.999000	0.59377	0.160000	0.22226	7.472000	0.80996	2.100000	0.63781	0.533000	0.62120	AAG		0.378	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437	Missense_Mutation	3	40	0	0	0	1	0	3	40				
NAGPA	51172	broad.mit.edu	37	16	5083689	5083689	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:5083689C>T	ENST00000312251.3	-	2	146	c.127G>A	c.(127-129)Gcg>Acg	p.A43T	NAGPA_ENST00000564922.1_5'UTR|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.A43T|ALG1_ENST00000588623.1_5'Flank	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	43					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CGCGCGCGCGCGCGTGGATAG	0.761																																						ENST00000312251.3																			0				endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12						c.(127-129)Gcg>Acg		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)						6.0	9.0	8.0					16																	5083689		1574	3400	4974	SO:0001583	missense	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5083689C>T	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.127G>A	16.37:g.5083689C>T	ENSP00000310998:p.Ala43Thr					RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.A43T|NAGPA_ENST00000564922.1_5'UTR	p.A43T	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN			2	146	-			43					B2RAS1|Q96EJ8	Missense_Mutation	SNP	ENST00000312251.3	37	c.127G>A	CCDS10527.1	.	.	.	.	.	.	.	.	.	.	C	6.672	0.492477	0.12702	.	.	ENSG00000103174	ENST00000312251;ENST00000381955	T;T	0.28255	1.62;1.81	5.23	-2.31	0.06765	.	0.966266	0.08604	N	0.921062	T	0.18425	0.0442	L	0.29908	0.895	0.09310	N	1	B;B	0.18013	0.025;0.0	B;B	0.14023	0.01;0.001	T	0.35798	-0.9774	10	0.12430	T	0.62	-1.9313	9.325	0.37988	0.0:0.3659:0.4311:0.203	.	43;43	B4DZG9;Q9UK23	.;NAGPA_HUMAN	T	43	ENSP00000310998:A43T;ENSP00000371381:A43T	ENSP00000310998:A43T	A	-	1	0	NAGPA	5023690	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.714000	0.05002	-0.064000	0.13043	0.650000	0.86243	GCG		0.761	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		8	22	0	0	0	1	0	8	22				
MYLK2	85366	broad.mit.edu	37	20	30411359	30411359	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:30411359T>C	ENST00000375994.2	+	4	1125	c.852T>C	c.(850-852)agT>agC	p.S284S	MYLK2_ENST00000375985.4_Silent_p.S284S			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	284					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTGAATTCAGTATGAACTCCA	0.617											OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375994.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(850-852)agT>agC		myosin light chain kinase 2							84.0	88.0	87.0					20																	30411359		2203	4300	6503	SO:0001819	synonymous_variant	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30411359T>C	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.852T>C	20.37:g.30411359T>C			OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	817	MYLK2_ENST00000375985.4_Silent_p.S284S	p.S284S			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		4	1125	+			284					Q569L1|Q96I84	Silent	SNP	ENST00000375994.2	37	c.852T>C	CCDS13191.1																																																																																				0.617	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		58	152	0	0	0	1	0	58	152				
UGT1A9	54600	broad.mit.edu	37	2	234580711	234580711	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:234580711T>C	ENST00000354728.4	+	1	213	c.131T>C	c.(130-132)gTg>gCg	p.V44A	UGT1A1_ENST00000609637.1_Missense_Mutation_p.V44A|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	44					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	ATGAGGTCGGTGGTGGAGAAA	0.537																																						ENST00000354728.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37						c.(130-132)gTg>gCg									91.0	76.0	81.0					2																	234580711		2203	4300	6503	SO:0001583	missense	54600							g.chr2:234580711T>C	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.131T>C	2.37:g.234580711T>C	ENSP00000346768:p.Val44Ala					UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	p.V44A	NM_021027.2	NP_066307.1				Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	213	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)						B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	c.131T>C	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.874481	0.51695	.	.	ENSG00000241119	ENST00000354728	T	0.62788	-0.0	3.45	3.45	0.39498	.	.	.	.	.	T	0.69513	0.3119	L	0.53249	1.67	0.22401	N	0.999138	P;P	0.49559	0.925;0.925	P;P	0.56648	0.803;0.803	T	0.59547	-0.7434	9	0.49607	T	0.09	.	12.3626	0.55211	0.0:0.0:0.0:1.0	.	44;44	Q5DSZ5;O60656	.;UD19_HUMAN	A	44	ENSP00000346768:V44A	ENSP00000346768:V44A	V	+	2	0	UGT1A9	234245450	0.993000	0.37304	0.118000	0.21660	0.571000	0.35966	5.604000	0.67626	1.556000	0.49512	0.366000	0.22137	GTG		0.537	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		4	122	0	0	0	1	0	4	122				
STAU1	6780	broad.mit.edu	37	20	47741121	47741121	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:47741121C>T	ENST00000371856.2	-	7	1023	c.613G>A	c.(613-615)Gcc>Acc	p.A205T	STAU1_ENST00000371792.1_Missense_Mutation_p.A124T|STAU1_ENST00000360426.4_Missense_Mutation_p.A124T|STAU1_ENST00000340954.7_Missense_Mutation_p.A124T|STAU1_ENST00000347458.5_Missense_Mutation_p.A124T|STAU1_ENST00000371802.1_Missense_Mutation_p.A130T|STAU1_ENST00000371828.3_Missense_Mutation_p.A130T	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	205	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CTCTCCCGGGCCACCTGTTTC	0.517																																						ENST00000371828.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(388-390)Gcc>Acc		staufen double-stranded RNA binding protein 1							61.0	66.0	64.0					20																	47741121		2203	4300	6503	SO:0001583	missense	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47741121C>T		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.613G>A	20.37:g.47741121C>T	ENSP00000360922:p.Ala205Thr					STAU1_ENST00000340954.7_Missense_Mutation_p.A124T|STAU1_ENST00000371856.2_Missense_Mutation_p.A205T|STAU1_ENST00000347458.5_Missense_Mutation_p.A124T|STAU1_ENST00000360426.4_Missense_Mutation_p.A124T|STAU1_ENST00000371802.1_Missense_Mutation_p.A130T|STAU1_ENST00000371792.1_Missense_Mutation_p.A124T	p.A130T	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		7	875	-			205			DRBM 1.		A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	c.388G>A	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159768	0.38119	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404	T;T;T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	5.24	4.2	0.49525	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.186690	0.47093	D	0.000246	T	0.43590	0.1254	N	0.02876	-0.465	0.33224	D	0.555042	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.45731	-0.9241	10	0.26408	T	0.33	-9.7928	3.3821	0.07259	0.0:0.6195:0.0:0.3805	.	205;130	O95793;Q5JW29	STAU1_HUMAN;.	T	130;124;205;124;124;124;130;124;130	ENSP00000360893:A130T;ENSP00000345425:A124T;ENSP00000360922:A205T;ENSP00000353604:A124T;ENSP00000323443:A124T;ENSP00000360867:A130T;ENSP00000360857:A124T;ENSP00000416779:A130T	ENSP00000345425:A124T	A	-	1	0	STAU1	47174528	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.806000	0.47947	2.444000	0.82710	0.650000	0.86243	GCC		0.517	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		24	88	0	0	0	1	0	24	88				
TEP1	7011	broad.mit.edu	37	14	20876530	20876530	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:20876530A>G	ENST00000262715.5	-	2	109	c.69T>C	c.(67-69)gcT>gcC	p.A23A	TEP1_ENST00000556935.1_Silent_p.A23A	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	23					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGGGAGCATAGCCAGGCACC	0.512																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(67-69)gcT>gcC		telomerase-associated protein 1							97.0	91.0	93.0					14																	20876530		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20876530A>G		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.69T>C	14.37:g.20876530A>G						TEP1_ENST00000556935.1_Silent_p.A23A	p.A23A	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	2	109	-	all_cancers(95;0.00123)	all_lung(585;0.235)	23					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.69T>C	CCDS9548.1																																																																																				0.512	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		5	118	0	0	0	1	0	5	118				
ACY1	95	broad.mit.edu	37	3	52022837	52022837	+	Missense_Mutation	SNP	C	C	T	rs121912698	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52022837C>T	ENST00000404366.2	+	14	1203	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	ACY1_ENST00000476351.1_Missense_Mutation_p.R318C|ACY1_ENST00000494103.1_Missense_Mutation_p.R281C|ACY1_ENST00000458031.2_Missense_Mutation_p.R443C|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.R454C|ACY1_ENST00000476854.1_Missense_Mutation_p.R288C	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	353			R -> C (in ACY1D; loss of activity; dbSNP:rs121912698). {ECO:0000269|PubMed:16274666, ECO:0000269|PubMed:16465618, ECO:0000269|PubMed:17562838}.		cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	CCGCTATATCCGCGCGGTGAG	0.587													C|||	3	0.000599042	0.0	0.0014	5008	,	,		20112	0.0		0.002	False		,,,				2504	0.0					ENST00000458031.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	GRCh37	CM053746	ACY1	M	rs121912698	c.(1327-1329)Cgc>Tgc		aminoacylase 1	L-Aspartic Acid(DB00128)	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	153.0	165.0	161.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1057,1057,841,862,952	5.7	0.2	3	dbSNP_133	161	30,8570	21.6+/-65.8	0,30,4270	yes	missense,missense,missense,missense,missense	ACY1	NM_000666.2,NM_001198895.1,NM_001198896.1,NM_001198897.1,NM_001198898.1	180,180,180,180,180	0,33,6470	TT,TC,CC		0.3488,0.0681,0.2537	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	353/409,353/409,281/337,288/344,318/374	52022837	33,12973	2203	4300	6503	SO:0001583	missense	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52022837C>T	L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.1057C>T	3.37:g.52022837C>T	ENSP00000384296:p.Arg353Cys					ACY1_ENST00000494103.1_Missense_Mutation_p.R281C|ACY1_ENST00000404366.2_Missense_Mutation_p.R353C|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.R454C|ACY1_ENST00000476854.1_Missense_Mutation_p.R288C|ACY1_ENST00000476351.1_Missense_Mutation_p.R318C	p.R443C			Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	16	1558	+			353					C9J6I6|C9J9D8|C9JWD4	Missense_Mutation	SNP	ENST00000404366.2	37	c.1327C>T	CCDS2844.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.42	2.827561	0.50845	6.81E-4	0.003488	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476854;ENST00000476351;ENST00000494103;ENST00000404366	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.77896	0.4199	H	0.95079	3.62	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84935	0.0862	9	0.87932	D	0	-18.5241	15.0853	0.72148	0.1424:0.8575:0.0:0.0	.	443;353	B4DNW0;Q03154	.;ACY1_HUMAN	C	443;454;353;288;318;281;353	ENSP00000390557:R443C;ENSP00000420487:R454C;ENSP00000419262:R288C;ENSP00000417056:R318C;ENSP00000417618:R281C;ENSP00000384296:R353C	ENSP00000384296:R353C	R	+	1	0	ACY1;RP11-155D18.11	51997877	1.000000	0.71417	0.219000	0.23793	0.144000	0.21451	2.370000	0.44240	2.679000	0.91253	0.655000	0.94253	CGC		0.587	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666		91	254	0	0	0	1	0	91	254				
ATN1	1822	broad.mit.edu	37	12	7044749	7044749	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:7044749A>G	ENST00000356654.4	+	5	556	c.319A>G	c.(319-321)Agc>Ggc	p.S107G	ATN1_ENST00000396684.2_Missense_Mutation_p.S107G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	107					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CGATCTGGATAGCTTGGACGG	0.542																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(319-321)Agc>Ggc		atrophin 1							112.0	90.0	98.0					12																	7044749		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7044749A>G	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.319A>G	12.37:g.7044749A>G	ENSP00000349076:p.Ser107Gly					ATN1_ENST00000396684.2_Missense_Mutation_p.S107G	p.S107G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	556	+			107					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.319A>G	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.497538	0.44455	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.05925	3.37;3.37;3.37	3.82	3.82	0.43975	.	0.000000	0.37437	U	0.002087	T	0.06645	0.0170	L	0.34521	1.04	0.50813	D	0.999893	B;B	0.32245	0.361;0.035	B;B	0.33521	0.165;0.025	T	0.37776	-0.9691	10	0.45353	T	0.12	.	13.0423	0.58906	1.0:0.0:0.0:0.0	.	107;107	Q86V38;P54259	.;ATN1_HUMAN	G	107	ENSP00000349076:S107G;ENSP00000379915:S107G;ENSP00000441744:S107G	ENSP00000349076:S107G	S	+	1	0	ATN1	6915010	1.000000	0.71417	0.985000	0.45067	0.930000	0.56654	7.180000	0.77674	1.729000	0.51567	0.254000	0.18369	AGC		0.542	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		17	64	0	0	0	1	0	17	64				
HSF4	3299	broad.mit.edu	37	16	67200484	67200484	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67200484A>G	ENST00000521374.1	+	6	585	c.585A>G	c.(583-585)ccA>ccG	p.P195P	HSF4_ENST00000517867.1_3'UTR|HSF4_ENST00000584272.1_Silent_p.P195P|HSF4_ENST00000421453.1_Silent_p.P195P|HSF4_ENST00000264009.8_Silent_p.P195P			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	195	Hydrophobic repeat HR-A/B.				camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TCTTTGGGCCACTTCAGGCGG	0.562																																						ENST00000264009.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(583-585)ccA>ccG		heat shock transcription factor 4							56.0	63.0	61.0					16																	67200484		1925	4142	6067	SO:0001819	synonymous_variant	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67200484A>G	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.585A>G	16.37:g.67200484A>G						HSF4_ENST00000584272.1_Silent_p.P195P|HSF4_ENST00000421453.1_Silent_p.P195P|HSF4_ENST00000517867.1_3'UTR|HSF4_ENST00000521374.1_Silent_p.P195P	p.P195P	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	8	1550	+		Ovarian(137;0.0563)	195			Hydrophobic repeat HR-A/B.		Q99472|Q9ULV6	Silent	SNP	ENST00000521374.1	37	c.585A>G	CCDS42175.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.403255	0.42613	.	.	ENSG00000102878	ENST00000517750	.	.	.	4.43	2.12	0.27331	.	.	.	.	.	T	0.46229	0.1382	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25710	-1.0124	4	.	.	.	-6.6329	3.5742	0.07929	0.5248:0.195:0.2802:0.0	.	.	.	.	A	42	.	.	T	+	1	0	HSF4	65757985	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.050000	0.30404	0.209000	0.20645	0.460000	0.39030	ACT		0.562	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		13	49	0	0	0	1	0	13	49				
CD97	976	broad.mit.edu	37	19	14515304	14515304	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:14515304A>G	ENST00000242786.5	+	13	1639	c.1559A>G	c.(1558-1560)aAc>aGc	p.N520S	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.N471S|CD97_ENST00000358600.3_Missense_Mutation_p.N427S	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	520	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGCAGCAAGAACGGCAGCACC	0.622																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1558-1560)aAc>aGc		CD97 molecule							62.0	56.0	58.0					19																	14515304		2203	4300	6503	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14515304A>G		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1559A>G	19.37:g.14515304A>G	ENSP00000242786:p.Asn520Ser					CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.N471S|CD97_ENST00000358600.3_Missense_Mutation_p.N427S	p.N520S	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			13	1639	+			520			GPS.		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.1559A>G	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.089790	0.36855	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.64618	-0.11;-0.11;-0.11	4.85	2.6	0.31112	GPS domain (3);	.	.	.	.	T	0.43986	0.1272	N	0.17345	0.48	0.09310	N	1	P;P;B	0.50443	0.935;0.935;0.066	B;B;B	0.43536	0.423;0.423;0.095	T	0.24693	-1.0153	9	0.51188	T	0.08	.	5.4046	0.16314	0.7168:0.1804:0.1028:0.0	.	427;471;520	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	S	520;471;427;470	ENSP00000242786:N520S;ENSP00000349918:N471S;ENSP00000351413:N427S	ENSP00000242786:N520S	N	+	2	0	CD97	14376304	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.031000	0.13710	0.860000	0.35481	0.459000	0.35465	AAC		0.622	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		20	90	0	0	0	1	0	20	90				
INF2	64423	broad.mit.edu	37	14	105185138	105185138	+	3'UTR	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:105185138G>A	ENST00000392634.4	+	0	3870				INF2_ENST00000330634.7_Missense_Mutation_p.R1234K|INF2_ENST00000481338.1_3'UTR	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing						actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		ACAGGCCTCAGGCCCAGGCCC	0.592																																						ENST00000330634.7																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(3700-3702)aGg>aAg		inverted formin, FH2 and WH2 domain containing							45.0	51.0	49.0					14																	105185138		1908	4136	6044	SO:0001624	3_prime_UTR_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105185138G>A	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.*8G>A	14.37:g.105185138G>A						INF2_ENST00000392634.4_3'UTR|INF2_ENST00000481338.1_3'UTR	p.R1234K	NM_001031714.3	NP_001026884.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	22	3844	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	1234					Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.3701G>A	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	g	11.24	1.581455	0.28180	.	.	ENSG00000203485	ENST00000330634;ENST00000481338	T	0.79141	-1.24	2.5	2.5	0.30297	.	.	.	.	.	T	0.56262	0.1973	.	.	.	0.23537	N	0.997469	P	0.35714	0.517	B	0.25405	0.06	T	0.39187	-0.9626	8	0.20519	T	0.43	.	8.5168	0.33250	0.0:0.0:1.0:0.0	.	1234	Q27J81-2	.	K	1234;75	ENSP00000376406:R1234K	ENSP00000252527:R702K	R	+	2	0	INF2	104256183	1.000000	0.71417	0.994000	0.49952	0.836000	0.47400	4.464000	0.60134	1.407000	0.46875	0.479000	0.44913	AGG		0.592	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		10	22	0	0	0	1	0	10	22				
PGK2	5232	broad.mit.edu	37	6	49754868	49754868	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:49754868T>C	ENST00000304801.3	-	1	185	c.33A>G	c.(31-33)aaA>aaG	p.K11K		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	11					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TAACATCCAGTTTGTCTAAAG	0.418																																						ENST00000304801.3																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47						c.(31-33)aaA>aaG		phosphoglycerate kinase 2							129.0	122.0	125.0					6																	49754868		2203	4300	6503	SO:0001819	synonymous_variant	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754868T>C	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.33A>G	6.37:g.49754868T>C							p.K11K	NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN			1	185	-	Lung NSC(77;0.0402)		11					B2R6Y8|Q9H107	Silent	SNP	ENST00000304801.3	37	c.33A>G	CCDS4930.1																																																																																				0.418	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			23	70	0	0	0	1	0	23	70				
FAM186B	84070	broad.mit.edu	37	12	49993649	49993649	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:49993649G>A	ENST00000257894.2	-	4	1935	c.1774C>T	c.(1774-1776)Cca>Tca	p.P592S	PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Missense_Mutation_p.P502S	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	592						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGCAAGTGTGGCCTCCTGCTT	0.572																																						ENST00000544141.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1504-1506)Cca>Tca		family with sequence similarity 186, member B							97.0	87.0	90.0					12																	49993649		2203	4300	6503	SO:0001583	missense	84070					protein complex		g.chr12:49993649G>A	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.1774C>T	12.37:g.49993649G>A	ENSP00000257894:p.Pro592Ser					FAM186B_ENST00000257894.2_Missense_Mutation_p.P592S|FAM186B_ENST00000551047.1_Intron|PRPF40B_ENST00000508736.1_3'UTR	p.P502S			Q8IYM0	F186B_HUMAN			4	2103	-			592					B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	c.1504C>T	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	G	7.266	0.606253	0.14002	.	.	ENSG00000135436	ENST00000544141;ENST00000532262;ENST00000257894	T;T;T	0.15952	2.38;2.38;2.61	4.36	0.765	0.18470	.	0.370104	0.19976	N	0.101876	T	0.12135	0.0295	L	0.46157	1.445	0.09310	N	1	B;B	0.29646	0.253;0.077	B;B	0.29663	0.105;0.037	T	0.20338	-1.0278	9	.	.	.	-0.2849	4.6689	0.12680	0.1944:0.1918:0.6138:0.0	.	502;592	B4DZ15;Q8IYM0	.;F186B_HUMAN	S	502;205;592	ENSP00000438569:P502S;ENSP00000436995:P205S;ENSP00000257894:P592S	.	P	-	1	0	FAM186B	48279916	0.847000	0.29606	0.022000	0.16811	0.011000	0.07611	0.173000	0.16724	0.196000	0.20367	-0.176000	0.13171	CCA		0.572	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		23	79	0	0	0	1	0	23	79				
SMC2	10592	broad.mit.edu	37	9	106876294	106876294	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:106876294T>C	ENST00000286398.7	+	12	1752	c.1464T>C	c.(1462-1464)gaT>gaC	p.D488D	SMC2_ENST00000374793.3_Silent_p.D488D|SMC2_ENST00000303219.8_Silent_p.D488D|SMC2_ENST00000374787.3_Silent_p.D488D	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	488					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TGTCTCGTGATATTGGTAGAT	0.338																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(1462-1464)gaT>gaC		structural maintenance of chromosomes 2							113.0	131.0	124.0					9																	106876294		2203	4300	6503	SO:0001819	synonymous_variant	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106876294T>C	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.1464T>C	9.37:g.106876294T>C						SMC2_ENST00000374787.3_Silent_p.D488D|SMC2_ENST00000374793.3_Silent_p.D488D|SMC2_ENST00000303219.8_Silent_p.D488D	p.D488D	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN			12	1752	+			488					Q6IEE0|Q9P1P2	Silent	SNP	ENST00000286398.7	37	c.1464T>C	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	T	8.613	0.889611	0.17540	.	.	ENSG00000136824	ENST00000536893	.	.	.	5.06	2.73	0.32206	.	.	.	.	.	T	0.41096	0.1144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.06917	-1.0800	5	0.13853	T	0.58	-26.4131	7.8712	0.29567	0.0:0.1757:0.0:0.8243	.	.	.	.	T	368	.	ENSP00000444272:I368T	I	+	2	0	SMC2	105916115	0.701000	0.27806	1.000000	0.80357	0.910000	0.53928	-0.261000	0.08694	0.412000	0.25729	0.454000	0.30748	ATA		0.338	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			4	229	0	0	0	1	0	4	229				
PANK1	53354	broad.mit.edu	37	10	91404753	91404753	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:91404753T>C	ENST00000307534.4	-	1	462	c.307A>G	c.(307-309)Aat>Gat	p.N103D	PANK1_ENST00000342512.3_5'Flank|PANK1_ENST00000322191.6_5'Flank|PANK1_ENST00000371774.2_5'Flank|RP11-80H5.2_ENST00000454174.1_RNA|RP11-80H5.2_ENST00000451733.1_RNA|RP11-80H5.6_ENST00000428166.1_lincRNA|PANK1_ENST00000488482.1_5'Flank	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	103					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						GGCTTCCGATTCAGCAGCCGC	0.746																																						ENST00000307534.4																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						c.(307-309)Aat>Gat		pantothenate kinase 1	Bezafibrate(DB01393)						8.0	13.0	11.0					10																	91404753		1873	4006	5879	SO:0001583	missense	53354				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	g.chr10:91404753T>C	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.307A>G	10.37:g.91404753T>C	ENSP00000302108:p.Asn103Asp						p.N103D	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN			1	462	-			103					A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	ENST00000307534.4	37	c.307A>G	CCDS31244.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745766	0.49151	.	.	ENSG00000152782	ENST00000307534	D	0.99488	-6.0	4.07	1.78	0.24846	.	0.775309	0.11440	N	0.563856	D	0.95806	0.8635	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	D	0.92430	0.5953	10	0.12430	T	0.62	.	6.1902	0.20520	0.0:0.2337:0.0:0.7663	.	103	Q8TE04	PANK1_HUMAN	D	103	ENSP00000302108:N103D	ENSP00000302108:N103D	N	-	1	0	PANK1	91394733	0.909000	0.30893	1.000000	0.80357	0.989000	0.77384	0.460000	0.21924	0.730000	0.32425	0.379000	0.24179	AAT		0.746	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				14	43	0	0	0	1	0	14	43				
SPRED2	200734	broad.mit.edu	37	2	65561892	65561892	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:65561892A>G	ENST00000356388.4	-	3	409	c.220T>C	c.(220-222)Tat>Cat	p.Y74H	SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Missense_Mutation_p.Y71H	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	74	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TTTCTTACATAGCATTCCAAT	0.438																																						ENST00000356388.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(220-222)Tat>Cat		sprouty-related, EVH1 domain containing 2							163.0	153.0	156.0					2																	65561892		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65561892A>G	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.220T>C	2.37:g.65561892A>G	ENSP00000348753:p.Tyr74His					SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Missense_Mutation_p.Y71H	p.Y74H	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			3	409	-			74			WH1.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.220T>C	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.629860	0.28978	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087;ENST00000440972	D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99	5.28	5.28	0.74379	EVH1 (2);Pleckstrin homology-type (1);	0.228496	0.45361	D	0.000369	D	0.97182	0.9079	N	0.22421	0.69	0.44976	D	0.997993	P;P	0.45902	0.683;0.868	P;P	0.59424	0.736;0.857	D	0.96185	0.9133	10	0.16896	T	0.51	-13.3629	15.1963	0.73092	1.0:0.0:0.0:0.0	.	71;74	E9PEP0;Q7Z698	.;SPRE2_HUMAN	H	74;71;89;6;74	ENSP00000348753:Y74H;ENSP00000393697:Y71H;ENSP00000390595:Y89H;ENSP00000407627:Y6H;ENSP00000406481:Y74H	ENSP00000348753:Y74H	Y	-	1	0	SPRED2	65415396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.923000	0.70045	1.999000	0.58509	0.533000	0.62120	TAT		0.438	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			4	148	0	0	0	1	0	4	148				
PRKRIR	5612	broad.mit.edu	37	11	76063224	76063224	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:76063224A>G	ENST00000260045.3	-	5	1075	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	324					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CCACGACAATACTCCATATTT	0.388																																						ENST00000260045.3																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						c.(970-972)Tat>Cat		protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)							33.0	34.0	34.0					11																	76063224		2145	4196	6341	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76063224A>G	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.970T>C	11.37:g.76063224A>G	ENSP00000260045:p.Tyr324His						p.Y324H	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN			5	1075	-			324					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.970T>C	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	A	6.768	0.510621	0.12883	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	.	.	.	4.78	4.78	0.61160	Ribonuclease H-like (1);	0.155846	0.64402	D	0.000015	T	0.42698	0.1214	N	0.21448	0.665	0.44454	D	0.997384	B	0.15930	0.015	B	0.16722	0.016	T	0.28364	-1.0046	9	0.15499	T	0.54	.	14.7428	0.69469	1.0:0.0:0.0:0.0	.	324	O43422	P52K_HUMAN	H	149;324	.	ENSP00000260045:Y324H	Y	-	1	0	PRKRIR	75740872	0.990000	0.36364	0.995000	0.50966	0.967000	0.64934	2.661000	0.46758	1.956000	0.56807	0.524000	0.50904	TAT		0.388	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		41	114	0	0	0	1	0	41	114				
CEP164	22897	broad.mit.edu	37	11	117280361	117280361	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:117280361G>A	ENST00000278935.3	+	30	3923	c.3776G>A	c.(3775-3777)cGc>cAc	p.R1259H	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1259					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CTCACCTCCCGCAAGATCCAC	0.612																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(3775-3777)cGc>cAc		centrosomal protein 164kDa							97.0	105.0	103.0					11																	117280361		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117280361G>A	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3776G>A	11.37:g.117280361G>A	ENSP00000278935:p.Arg1259His					CEP164_ENST00000533706.1_3'UTR	p.R1259H	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	30	3923	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1259					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.3776G>A	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	g	11.95	1.791317	0.31685	.	.	ENSG00000110274	ENST00000278935	T	0.22743	1.94	4.33	-1.38	0.09027	.	1.176660	0.06187	N	0.680542	T	0.09247	0.0228	N	0.08118	0	0.19300	N	0.999972	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37220	-0.9715	10	0.12430	T	0.62	-2.454	6.7386	0.23422	0.6917:0.141:0.1672:0.0	.	1259;1254	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	H	1259	ENSP00000278935:R1259H	ENSP00000278935:R1259H	R	+	2	0	CEP164	116785571	0.005000	0.15991	0.908000	0.35775	0.006000	0.05464	-0.500000	0.06405	-0.101000	0.12219	-1.667000	0.00748	CGC		0.612	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		81	219	0	0	0	1	0	81	219				
SUPT16H	11198	broad.mit.edu	37	14	21826538	21826538	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:21826538T>C	ENST00000216297.2	-	20	2688	c.2350A>G	c.(2350-2352)Att>Gtt	p.I784V		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	784					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ACTTTCTCAATGAAATTTTTA	0.368																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(2350-2352)Att>Gtt		suppressor of Ty 16 homolog (S. cerevisiae)							65.0	59.0	61.0					14																	21826538		2202	4300	6502	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21826538T>C	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2350A>G	14.37:g.21826538T>C	ENSP00000216297:p.Ile784Val						p.I784V	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	20	2688	-	all_cancers(95;0.00115)		784					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.2350A>G	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429147	0.43122	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.24431	0.0592	N	0.01800	-0.715	0.80722	D	1	B	0.17038	0.02	B	0.11329	0.006	T	0.29397	-1.0013	9	0.02654	T	1	-15.3089	15.1658	0.72825	0.0:0.0:0.0:1.0	.	784	Q9Y5B9	SP16H_HUMAN	V	784	.	ENSP00000216297:I784V	I	-	1	0	SUPT16H	20896378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.163000	0.77524	2.228000	0.72767	0.533000	0.62120	ATT		0.368	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			6	72	0	0	0	1	0	6	72				
PKD2L1	9033	broad.mit.edu	37	10	102054309	102054309	+	Missense_Mutation	SNP	C	C	T	rs202152796	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:102054309C>T	ENST00000318222.3	-	9	2024	c.1642G>A	c.(1642-1644)Gtc>Atc	p.V548I	PKD2L1_ENST00000353274.3_Missense_Mutation_p.V548I|PKD2L1_ENST00000338519.3_Missense_Mutation_p.V473I	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	548					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		ACGAAGAAGACGAAGAAGACA	0.532													C|||	8	0.00159744	0.0	0.0	5008	,	,		19825	0.0079		0.0	False		,,,				2504	0.0					ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1642-1644)Gtc>Atc		polycystic kidney disease 2-like 1		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	133.0	118.0	123.0		1642	3.7	1.0	10		123	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PKD2L1	NM_016112.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	548/806	102054309	2,13004	2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102054309C>T	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1642G>A	10.37:g.102054309C>T	ENSP00000325296:p.Val548Ile					PKD2L1_ENST00000338519.3_Missense_Mutation_p.V473I|PKD2L1_ENST00000353274.3_Missense_Mutation_p.V548I	p.V548I	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	9	2024	-		Colorectal(252;0.117)	548					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.1642G>A	CCDS7492.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	23.1	4.376730	0.82682	2.27E-4	1.16E-4	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.71222	-0.55;-0.55;-0.55	5.57	3.73	0.42828	Polycystin cation channel, PKD1/PKD2 (1);	0.057465	0.64402	N	0.000001	T	0.72070	0.3415	M	0.63208	1.945	0.45129	D	0.998143	D;D	0.76494	0.999;0.99	P;P	0.62740	0.906;0.844	T	0.73007	-0.4118	10	0.36615	T	0.2	-31.4531	11.2491	0.49015	0.0:0.8527:0.0:0.1473	.	501;548	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	I	473;548;548;546	ENSP00000345068:V473I;ENSP00000266049:V548I;ENSP00000325296:V548I	ENSP00000325296:V548I	V	-	1	0	PKD2L1	102044299	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	4.824000	0.62701	0.737000	0.32582	0.561000	0.74099	GTC		0.532	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		28	86	0	0	0	1	0	28	86				
UBAP2	55833	broad.mit.edu	37	9	33933540	33933540	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:33933540T>C	ENST00000379238.1	-	18	2173	c.2056A>G	c.(2056-2058)Aca>Gca	p.T686A	UBAP2_ENST00000360802.1_Missense_Mutation_p.T686A|UBAP2_ENST00000539807.1_Missense_Mutation_p.T441A|UBAP2_ENST00000449054.1_Missense_Mutation_p.T686A|UBAP2_ENST00000418786.2_Missense_Mutation_p.T633A|UBAP2_ENST00000379239.4_Missense_Mutation_p.T419A|SNORD121B_ENST00000458838.1_RNA					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TGCTGGGATGTGGACGGCAGA	0.597																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(2056-2058)Aca>Gca		ubiquitin associated protein 2							108.0	87.0	94.0					9																	33933540		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33933540T>C	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2056A>G	9.37:g.33933540T>C	ENSP00000368540:p.Thr686Ala					UBAP2_ENST00000418786.2_Missense_Mutation_p.T633A|UBAP2_ENST00000360802.1_Missense_Mutation_p.T686A|UBAP2_ENST00000379239.4_Missense_Mutation_p.T419A|UBAP2_ENST00000449054.1_Missense_Mutation_p.T686A|UBAP2_ENST00000539807.1_Missense_Mutation_p.T441A	p.T686A			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	18	2173	-			686						Missense_Mutation	SNP	ENST00000379238.1	37	c.2056A>G	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.860930	0.00552	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000418786	T;T;T;T;T;T	0.14640	2.9;2.9;2.9;2.68;2.68;2.49	5.63	0.779	0.18550	.	0.525151	0.21086	N	0.080410	T	0.02193	0.0068	N	0.00298	-1.69	0.09310	N	1	B;B;B;B;B;B;B	0.15719	0.0;0.012;0.0;0.0;0.0;0.007;0.014	B;B;B;B;B;B;B	0.08055	0.001;0.003;0.0;0.0;0.0;0.001;0.002	T	0.44345	-0.9334	10	0.02654	T	1	1.4002	6.9785	0.24690	0.1313:0.6882:0.0:0.1806	.	633;611;441;419;595;611;686	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;.;.;UBAP2_HUMAN	A	686;686;686;595;419;441;633	ENSP00000368540:T686A;ENSP00000416932:T686A;ENSP00000354039:T686A;ENSP00000368541:T419A;ENSP00000439329:T441A;ENSP00000404436:T633A	ENSP00000354039:T686A	T	-	1	0	UBAP2	33923540	0.111000	0.22076	0.000000	0.03702	0.061000	0.15899	1.356000	0.34079	-0.134000	0.11516	0.260000	0.18958	ACA		0.597	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		17	47	0	0	0	1	0	17	47				
CSNK2A2	1459	broad.mit.edu	37	16	58220736	58220736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:58220736G>A	ENST00000262506.3	-	3	424	c.241C>T	c.(241-243)Cga>Tga	p.R81*	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	81	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)	1						TTAACCTCTCGTTTTATCTTC	0.378																																					Melanoma(54;119 1219 18349 35700 39738)	ENST00000262506.3																			0				central_nervous_system(1)	1						c.(241-243)Cga>Tga		casein kinase 2, alpha prime polypeptide							147.0	139.0	141.0					16																	58220736		2198	4300	6498	SO:0001587	stop_gained	1459				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr16:58220736G>A	M55268	CCDS10794.1	16q21	2013-01-17			ENSG00000070770	ENSG00000070770			2459	protein-coding gene	gene with protein product		115442				2174700, 1766873	Standard	NM_001896		Approved	CSNK2A1	uc002enc.3	P19784	OTTHUMG00000133488	ENST00000262506.3:c.241C>T	16.37:g.58220736G>A	ENSP00000262506:p.Arg81*					CSNK2A2_ENST00000566813.1_5'UTR	p.R81*	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN			3	424	-			81			Protein kinase.			Nonsense_Mutation	SNP	ENST00000262506.3	37	c.241C>T	CCDS10794.1	.	.	.	.	.	.	.	.	.	.	G	39	7.347100	0.98228	.	.	ENSG00000070770	ENST00000262506	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9267	19.2582	0.93955	0.0:0.0:1.0:0.0	.	.	.	.	X	81	.	ENSP00000262506:R81X	R	-	1	2	CSNK2A2	56778237	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.869000	0.87170	2.790000	0.95986	0.650000	0.86243	CGA		0.378	CSNK2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257386.2	NM_001896		23	79	0	0	0	1	0	23	79				
ZNF613	79898	broad.mit.edu	37	19	52448704	52448704	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:52448704A>G	ENST00000293471.6	+	6	2247	c.1568A>G	c.(1567-1569)cAc>cGc	p.H523R	ZNF613_ENST00000391794.4_Missense_Mutation_p.H487R|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	523					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)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GCTTTCTCCCACTTGTCATGC	0.433																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1567-1569)cAc>cGc		zinc finger protein 613							110.0	83.0	92.0					19																	52448704		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448704A>G	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1568A>G	19.37:g.52448704A>G	ENSP00000293471:p.His523Arg					ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.H487R	p.H523R	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	2247	+		all_neural(266;0.117)	523					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.1568A>G	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	A	12.37	1.916973	0.33815	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.17691	2.26;2.26	3.36	2.34	0.29019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.395517	0.18723	N	0.132948	T	0.14787	0.0357	N	0.11673	0.155	0.09310	N	1	D	0.55172	0.97	P	0.59761	0.863	T	0.13176	-1.0519	10	0.24483	T	0.36	.	6.4666	0.21985	0.8819:0.0:0.118:0.0	.	523	Q6PF04	ZN613_HUMAN	R	523;487;197	ENSP00000293471:H523R;ENSP00000375671:H487R	ENSP00000293471:H523R	H	+	2	0	ZNF613	57140516	0.000000	0.05858	0.955000	0.39395	0.994000	0.84299	-0.194000	0.09559	0.501000	0.28013	0.533000	0.62120	CAC		0.433	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		26	63	0	0	0	1	0	26	63				
FHOD1	29109	broad.mit.edu	37	16	67263713	67263713	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67263713C>T	ENST00000258201.4	-	21	3642	c.3395G>A	c.(3394-3396)cGc>cAc	p.R1132H	AC040160.1_ENST00000454102.2_5'Flank|LRRC29_ENST00000341546.3_5'Flank|LRRC29_ENST00000393992.1_5'Flank|LRRC29_ENST00000409509.1_5'Flank|LRRC29_ENST00000462169.1_5'Flank	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1132	DAD.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCGGTTGCCGCGGGAACGCTT	0.562																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(3394-3396)cGc>cAc		formin homology 2 domain containing 1							82.0	85.0	84.0					16																	67263713		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67263713C>T	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3395G>A	16.37:g.67263713C>T	ENSP00000258201:p.Arg1132His					FHOD1_ENST00000567687.1_Missense_Mutation_p.R711H	p.R1132H	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	21	3642	-		Ovarian(137;0.0563)	1132					Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.3395G>A	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459313	0.63401	.	.	ENSG00000135723	ENST00000258201	T	0.43688	0.94	5.22	5.22	0.72569	.	0.109676	0.64402	D	0.000015	T	0.52141	0.1716	M	0.85630	2.765	0.80722	D	1	P	0.38922	0.651	B	0.38106	0.265	T	0.61461	-0.7058	10	0.59425	D	0.04	.	17.5286	0.87808	0.0:1.0:0.0:0.0	.	1132	Q9Y613	FHOD1_HUMAN	H	1132	ENSP00000258201:R1132H	ENSP00000258201:R1132H	R	-	2	0	FHOD1	65821214	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.221000	0.78016	2.725000	0.93324	0.655000	0.94253	CGC		0.562	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			49	153	0	0	0	1	0	49	153				
NLRP6	171389	broad.mit.edu	37	11	285213	285213	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:285213C>T	ENST00000312165.5	+	8	2588	c.2588C>T	c.(2587-2589)gCt>gTt	p.A863V	RP11-326C3.2_ENST00000525217.1_RNA|RP11-326C3.2_ENST00000534742.1_RNA|RP11-326C3.2_ENST00000533924.1_RNA|NLRP6_ENST00000534750.1_Missense_Mutation_p.A862V	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	863					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGCTTCAGGCTGTGAAGAGA	0.612																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(2584-2586)gCt>gTt		NLR family, pyrin domain containing 6							73.0	60.0	64.0					11																	285213		2202	4298	6500	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:285213C>T	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2588C>T	11.37:g.285213C>T	ENSP00000309767:p.Ala863Val					NLRP6_ENST00000312165.5_Missense_Mutation_p.A863V	p.A862V	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	8	2790	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	863					A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.2585C>T	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	c	5.231	0.228166	0.09916	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75477	-0.94;-0.91	2.17	1.23	0.21249	.	.	.	.	.	T	0.72819	0.3508	M	0.80332	2.49	0.09310	N	1	B;B	0.18968	0.032;0.018	B;B	0.17098	0.017;0.01	T	0.66500	-0.5908	9	0.72032	D	0.01	.	8.0923	0.30807	0.2424:0.7576:0.0:0.0	.	862;863	E9PJZ8;P59044	.;NALP6_HUMAN	V	862;863	ENSP00000433617:A862V;ENSP00000309767:A863V	ENSP00000309767:A863V	A	+	2	0	NLRP6	275213	0.002000	0.14202	0.005000	0.12908	0.076000	0.17211	0.281000	0.18810	0.472000	0.27344	-0.268000	0.10319	GCT		0.612	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		3	12	0	0	0	1	0	3	12				
ETF1	2107	broad.mit.edu	37	5	137848560	137848560	+	Missense_Mutation	SNP	C	C	T	rs200275950		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:137848560C>T	ENST00000360541.5	-	6	846	c.625G>A	c.(625-627)Gct>Act	p.A209T	ETF1_ENST00000503014.1_Missense_Mutation_p.A195T|ETF1_ENST00000499810.2_Missense_Mutation_p.A176T	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	209					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)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCTGCACAGCAGTCTCTGCT	0.428																																						ENST00000499810.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(526-528)Gct>Act		eukaryotic translation termination factor 1							90.0	90.0	90.0					5																	137848560		2203	4300	6503	SO:0001583	missense	2107				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	g.chr5:137848560C>T	AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.625G>A	5.37:g.137848560C>T	ENSP00000353741:p.Ala209Thr					ETF1_ENST00000503014.1_Missense_Mutation_p.A195T|ETF1_ENST00000360541.5_Missense_Mutation_p.A209T	p.A176T			P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	974	-			209					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	ENST00000360541.5	37	c.526G>A	CCDS4207.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822098	0.90873	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014	T;T;T	0.51071	0.72;0.72;0.72	5.48	5.48	0.80851	eRF1 domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.65270	0.2675	M	0.78285	2.405	0.80722	D	1	P;B;B	0.46656	0.882;0.096;0.178	P;B;B	0.52881	0.712;0.183;0.12	T	0.68907	-0.5285	10	0.66056	D	0.02	-4.2179	18.9821	0.92758	0.0:1.0:0.0:0.0	.	195;176;209	B7Z7P8;Q96CG1;P62495	.;.;ERF1_HUMAN	T	176;209;195	ENSP00000421288:A176T;ENSP00000353741:A209T;ENSP00000422203:A195T	ENSP00000353741:A209T	A	-	1	0	ETF1	137876459	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.641000	0.83368	2.572000	0.86782	0.655000	0.94253	GCT		0.428	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730		35	90	0	0	0	1	0	35	90				
TRIP6	7205	broad.mit.edu	37	7	100468203	100468203	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100468203T>C	ENST00000200457.4	+	6	1197	c.837T>C	c.(835-837)tgT>tgC	p.C279C		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	279	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGGCCAGTGTGGTGGCTGCG	0.612																																						ENST00000200457.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14						c.(835-837)tgT>tgC		thyroid hormone receptor interactor 6							148.0	139.0	142.0					7																	100468203		2203	4300	6503	SO:0001819	synonymous_variant	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100468203T>C	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.837T>C	7.37:g.100468203T>C							p.C279C	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN			6	1197	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		279			LIM zinc-binding 1.		A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Silent	SNP	ENST00000200457.4	37	c.837T>C	CCDS5708.1	.	.	.	.	.	.	.	.	.	.	t	6.928	0.540950	0.13250	.	.	ENSG00000087077	ENST00000429658	.	.	.	5.79	0.858	0.19030	.	.	.	.	.	T	0.55162	0.1903	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45963	-0.9225	4	.	.	.	.	8.2253	0.31564	0.0:0.4185:0.0:0.5815	.	.	.	.	A	53	.	.	V	+	2	0	TRIP6	100306139	0.418000	0.25440	1.000000	0.80357	0.544000	0.35116	-0.359000	0.07632	0.128000	0.18479	-0.268000	0.10319	GTG		0.612	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		7	94	0	0	0	1	0	7	94				
EPB42	2038	broad.mit.edu	37	15	43502557	43502557	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:43502557G>A	ENST00000441366.2	-	5	855	c.630C>T	c.(628-630)caC>caT	p.H210H	EPB42_ENST00000300215.3_Silent_p.H240H|EPB42_ENST00000540029.1_Silent_p.H132H	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	210					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CACGGGCCACGTGCACCGGCT	0.597																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(718-720)caC>caT		erythrocyte membrane protein band 4.2							139.0	130.0	133.0					15																	43502557		2203	4299	6502	SO:0001819	synonymous_variant	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43502557G>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.630C>T	15.37:g.43502557G>A						EPB42_ENST00000540029.1_Silent_p.H132H|EPB42_ENST00000441366.2_Silent_p.H210H	p.H240H			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	5	1177	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	210					Q4KKX0|Q4VB97	Silent	SNP	ENST00000441366.2	37	c.720C>T	CCDS45249.1																																																																																				0.597	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		54	120	0	0	0	1	0	54	120				
TAB2	23118	broad.mit.edu	37	6	149691182	149691182	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:149691182C>T	ENST00000367456.1	+	3	626	c.49C>T	c.(49-51)Cga>Tga	p.R17*	TAB2_ENST00000286332.5_Nonsense_Mutation_p.R17*|TAB2_ENST00000538427.1_Nonsense_Mutation_p.R17*|TAB2_ENST00000536230.1_Intron|TAB2_ENST00000392282.1_Nonsense_Mutation_p.R17*			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	17	CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|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 I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ACATGACCTGCGACAAAAATT	0.393																																						ENST00000367456.1																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						c.(49-51)Cga>Tga		TGF-beta activated kinase 1/MAP3K7 binding protein 2							140.0	129.0	133.0					6																	149691182		2203	4300	6503	SO:0001587	stop_gained	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149691182C>T	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.49C>T	6.37:g.149691182C>T	ENSP00000356426:p.Arg17*					TAB2_ENST00000536230.1_Intron|TAB2_ENST00000538427.1_Nonsense_Mutation_p.R17*|TAB2_ENST00000392282.1_Nonsense_Mutation_p.R17*|TAB2_ENST00000286332.5_Nonsense_Mutation_p.R17*	p.R17*			Q9NYJ8	TAB2_HUMAN			3	626	+			17			CUE.		B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Nonsense_Mutation	SNP	ENST00000367456.1	37	c.49C>T	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	C	42	9.298774	0.99128	.	.	ENSG00000055208	ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3691	20.1467	0.98079	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	ENSP00000286332:R17X	R	+	1	2	TAB2	149732875	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.418000	0.80167	2.838000	0.97847	0.655000	0.94253	CGA		0.393	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3			8	71	0	0	0	1	0	8	71				
C16orf45	89927	broad.mit.edu	37	16	15609245	15609245	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:15609245C>T	ENST00000300006.4	+	2	549	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	C16orf45_ENST00000452191.2_Missense_Mutation_p.R47W|C16orf45_ENST00000566490.1_Missense_Mutation_p.R64W|C16orf45_ENST00000561692.1_Missense_Mutation_p.R16W	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	64								p.R64fs*6(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						TCAGCGTCTCCGGGAAGTCTT	0.527																																						ENST00000300006.4																			1	Deletion - Frameshift(1)	p.R64fs*6(1)	ovary(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						c.(190-192)Cgg>Tgg		chromosome 16 open reading frame 45							120.0	103.0	108.0					16																	15609245		2197	4300	6497	SO:0001583	missense	89927							g.chr16:15609245C>T	AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.190C>T	16.37:g.15609245C>T	ENSP00000300006:p.Arg64Trp					C16orf45_ENST00000452191.2_Missense_Mutation_p.R47W|C16orf45_ENST00000561692.1_Missense_Mutation_p.R16W|C16orf45_ENST00000566490.1_Missense_Mutation_p.R64W	p.R64W	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN			2	549	+			64					O00223|O75769|Q8IZ36|Q96H25	Missense_Mutation	SNP	ENST00000300006.4	37	c.190C>T	CCDS10561.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882160	0.91740	.	.	ENSG00000166780	ENST00000300006;ENST00000452191	T;T	0.51325	0.71;0.71	5.01	5.01	0.66863	Domain of unknown function DUF3585 (1);	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.73347	-0.4011	10	0.87932	D	0	0.7778	15.8005	0.78450	0.0:1.0:0.0:0.0	.	8;64	B4DE25;Q96MC5	.;CP045_HUMAN	W	64;47	ENSP00000300006:R64W;ENSP00000408976:R47W	ENSP00000300006:R64W	R	+	1	2	C16orf45	15516746	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.602000	0.54066	2.286000	0.76751	0.563000	0.77884	CGG		0.527	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252130.2	NM_033201		13	41	0	0	0	1	0	13	41				
SERPINB5	5268	broad.mit.edu	37	18	61154286	61154286	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:61154286C>T	ENST00000382771.4	+	3	568	c.276C>T	c.(274-276)ctC>ctT	p.L92L	SERPINB5_ENST00000489441.1_Silent_p.L92L|RP11-635N19.3_ENST00000602456.1_RNA	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	92					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TCAAGCGGCTCTACGTAGACA	0.348																																						ENST00000382771.4																			0				kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						c.(274-276)ctC>ctT		serpin peptidase inhibitor, clade B (ovalbumin), member 5							87.0	85.0	86.0					18																	61154286		2203	4300	6503	SO:0001819	synonymous_variant	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61154286C>T	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.276C>T	18.37:g.61154286C>T						SERPINB5_ENST00000489441.1_Silent_p.L92L	p.L92L	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN			3	568	+			92					B2R6Y4|Q6N0B4|Q8WW89	Silent	SNP	ENST00000382771.4	37	c.276C>T	CCDS32839.1																																																																																				0.348	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		16	56	0	0	0	1	0	16	56				
ZMIZ1	57178	broad.mit.edu	37	10	81053160	81053160	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:81053160A>G	ENST00000334512.5	+	12	1552	c.980A>G	c.(979-981)aAc>aGc	p.N327S	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	327					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAGGCGTATAACAGCCAATTC	0.577																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(979-981)aAc>aGc		zinc finger, MIZ-type containing 1							79.0	101.0	94.0					10																	81053160		2201	4295	6496	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81053160A>G	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.980A>G	10.37:g.81053160A>G	ENSP00000334474:p.Asn327Ser					ZMIZ1_ENST00000478357.1_3'UTR	p.N327S	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		12	1552	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		327					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.980A>G	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.269749	0.59540	.	.	ENSG00000108175	ENST00000334512;ENST00000360331	T	0.33438	1.41	4.91	4.91	0.64330	.	0.000000	0.41823	U	0.000805	T	0.22437	0.0541	L	0.29908	0.895	0.80722	D	1	P;B	0.37731	0.607;0.434	B;B	0.32393	0.12;0.145	T	0.04635	-1.0937	10	0.48119	T	0.1	-19.3934	14.5347	0.67953	1.0:0.0:0.0:0.0	.	243;327	Q9H7J0;Q9ULJ6	.;ZMIZ1_HUMAN	S	327;257	ENSP00000334474:N327S	ENSP00000334474:N327S	N	+	2	0	ZMIZ1	80723166	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.913000	0.69957	1.843000	0.53566	0.260000	0.18958	AAC		0.577	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		6	315	0	0	0	1	0	6	315				
NDUFA1	4694	broad.mit.edu	37	X	119007336	119007336	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:119007336G>A	ENST00000371437.4	+	2	597	c.172G>A	c.(172-174)Gat>Aat	p.D58N	RNF113A_ENST00000371442.2_5'Flank	NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	58					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5						CTCTGGAGTTGATCGTTACTA	0.453																																						ENST00000371437.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5						c.(172-174)Gat>Aat		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	NADH(DB00157)						174.0	145.0	154.0					X																	119007336		2203	4300	6503	SO:0001583	missense	4694				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrX:119007336G>A		CCDS14590.1	Xq24	2011-07-04	2002-08-29		ENSG00000125356	ENSG00000125356		"""Mitochondrial respiratory chain complex / Complex I"""	7683	protein-coding gene	gene with protein product	"""NADH:ubiquinone oxidoreductase (complex 1)"", ""type I dehydrogenase"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"", ""complex I MWFE subunit"""	300078	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"""			8938439	Standard	NM_004541		Approved	MWFE, CI-MWFE	uc004esc.4	O15239	OTTHUMG00000022287	ENST00000371437.4:c.172G>A	X.37:g.119007336G>A	ENSP00000360492:p.Asp58Asn						p.D58N	NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN			2	597	+			58						Missense_Mutation	SNP	ENST00000371437.4	37	c.172G>A	CCDS14590.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.279322	0.00254	.	.	ENSG00000125356	ENST00000371437	T	0.70631	-0.5	4.88	1.02	0.19986	.	0.176280	0.51477	N	0.000086	T	0.39545	0.1082	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31641	-0.9936	9	0.02654	T	1	-16.1039	6.6501	0.22957	0.6919:0.0:0.3081:0.0	.	58	O15239	NDUA1_HUMAN	N	58	ENSP00000360492:D58N	ENSP00000360492:D58N	D	+	1	0	NDUFA1	118891364	0.125000	0.22332	0.001000	0.08648	0.044000	0.14063	0.848000	0.27710	-0.161000	0.10983	-1.375000	0.01183	GAT		0.453	NDUFA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058080.1	NM_004541		4	62	0	0	0	1	0	4	62				
TAP1	6890	broad.mit.edu	37	6	32819972	32819972	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:32819972A>G	ENST00000354258.4	-	3	1099	c.938T>C	c.(937-939)aTg>aCg	p.M313T	PSMB9_ENST00000453265.2_5'Flank|TAP1_ENST00000425148.2_Missense_Mutation_p.M52T|PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000374859.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	313	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	CACGTGGCCCATGGTGTTGTT	0.532																																						ENST00000354258.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						c.(937-939)aTg>aCg		transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)							101.0	88.0	93.0					6																	32819972		1510	2709	4219	SO:0001583	missense	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32819972A>G		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.938T>C	6.37:g.32819972A>G	ENSP00000346206:p.Met313Thr					TAP1_ENST00000425148.2_Missense_Mutation_p.M52T|PSMB9_ENST00000395330.1_Intron	p.M313T	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN			3	1099	-			313			ABC transmembrane type-1.		Q16149|Q96CP4	Missense_Mutation	SNP	ENST00000354258.4	37	c.938T>C	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.458846	0.43634	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.89875	-2.58;-2.58	4.88	4.88	0.63580	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.775970	0.11319	N	0.576299	D	0.88362	0.6416	M	0.64170	1.965	0.44745	D	0.997748	P	0.42908	0.793	P	0.50570	0.644	D	0.86609	0.1871	10	0.48119	T	0.1	-6.4797	12.502	0.55960	1.0:0.0:0.0:0.0	.	313	Q03518	TAP1_HUMAN	T	313;52	ENSP00000346206:M313T;ENSP00000401919:M52T	ENSP00000346206:M313T	M	-	2	0	TAP1	32927950	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	3.769000	0.55303	2.037000	0.60232	0.450000	0.29827	ATG		0.532	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593		11	99	0	0	0	1	0	11	99				
RADIL	55698	broad.mit.edu	37	7	4874654	4874654	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:4874654G>A	ENST00000399583.3	-	4	1187	c.1000C>T	c.(1000-1002)Cac>Tac	p.H334Y	RADIL_ENST00000536091.1_Missense_Mutation_p.H334Y|RADIL_ENST00000538469.1_Missense_Mutation_p.H94Y	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	334	FHA.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		ACGGTCCTGTGCCCCACCTCG	0.726																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1000-1002)Cac>Tac		Ras association and DIL domains							13.0	17.0	15.0					7																	4874654		1954	4136	6090	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4874654G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1000C>T	7.37:g.4874654G>A	ENSP00000382492:p.His334Tyr					RADIL_ENST00000536091.1_Missense_Mutation_p.H334Y|RADIL_ENST00000538469.1_Missense_Mutation_p.H94Y	p.H334Y	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	4	1187	-		Ovarian(82;0.0175)	334			FHA.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.1000C>T	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	-	8.043	0.764260	0.15914	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000536091;ENST00000538469	T;T;T	0.06218	3.33;3.33;3.33	3.07	-1.14	0.09741	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	1.159470	0.06636	N	0.760220	T	0.02767	0.0083	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44406	-0.9330	10	0.07325	T	0.83	-5.4587	0.7391	0.00970	0.1494:0.2321:0.2818:0.3367	.	334	Q96JH8	RADIL_HUMAN	Y	334;305;68;334;94	ENSP00000382492:H334Y;ENSP00000442533:H334Y;ENSP00000442966:H94Y	ENSP00000320946:H305Y	H	-	1	0	RADIL	4841180	0.000000	0.05858	0.032000	0.17829	0.798000	0.45092	-0.137000	0.10389	-0.251000	0.09542	0.651000	0.88453	CAC		0.726	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		11	22	0	0	0	1	0	11	22				
RBM12B	389677	broad.mit.edu	37	8	94745947	94745947	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:94745947A>G	ENST00000399300.2	-	3	2905	c.2692T>C	c.(2692-2694)Ttt>Ctt	p.F898L	RBM12B_ENST00000517700.1_Missense_Mutation_p.F778L|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	898							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGCTTTCCAAAATCAAACTTG	0.408																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(2692-2694)Ttt>Ctt		RNA binding motif protein 12B							154.0	159.0	157.0					8																	94745947		1804	4068	5872	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94745947A>G		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2692T>C	8.37:g.94745947A>G	ENSP00000382239:p.Phe898Leu					RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Missense_Mutation_p.F778L|RBM12B_ENST00000520961.1_Intron	p.F898L	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2905	-	Breast(36;4.14e-07)		898					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.2692T>C	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460743	0.84317	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.07444	3.19;3.22	5.95	5.95	0.96441	.	0.000000	0.44285	U	0.000470	T	0.08626	0.0214	L	0.27053	0.805	0.29197	N	0.87545	D	0.58620	0.983	P	0.47206	0.541	T	0.19257	-1.0311	10	0.24483	T	0.36	-0.0061	11.4842	0.50344	0.866:0.0:0.0:0.134	.	898	Q8IXT5	RB12B_HUMAN	L	898;778	ENSP00000382239:F898L;ENSP00000427729:F778L	ENSP00000382239:F898L	F	-	1	0	RBM12B	94815123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.397000	0.52572	2.272000	0.75746	0.460000	0.39030	TTT		0.408	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		79	375	0	0	0	1	0	79	375				
CUX1	1523	broad.mit.edu	37	7	101921271	101921271	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:101921271A>G	ENST00000437600.4	+	18	1961	c.1609A>G	c.(1609-1611)Agc>Ggc	p.S537G	CUX1_ENST00000547394.2_Missense_Mutation_p.S523G|CUX1_ENST00000292538.4_Missense_Mutation_p.S539G|CUX1_ENST00000425244.2_Missense_Mutation_p.S493G|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000393824.3_Missense_Mutation_p.S500G	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	347					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGAGCTGGACAGCCTGCGCGC	0.667																																						ENST00000437600.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(1609-1611)Agc>Ggc		cut-like homeobox 1							35.0	29.0	31.0					7																	101921271		2202	4298	6500	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101921271A>G	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1609A>G	7.37:g.101921271A>G	ENSP00000414091:p.Ser537Gly					CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.S493G|CUX1_ENST00000393824.3_Missense_Mutation_p.S500G|CUX1_ENST00000547394.2_Missense_Mutation_p.S523G|CUX1_ENST00000292538.4_Missense_Mutation_p.S539G	p.S537G	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN			18	1961	+			347					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000437600.4	37	c.1609A>G	CCDS47672.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.268664	0.59540	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000425244;ENST00000437600	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	4.55	4.55	0.56014	CASP, C-terminal (1);	.	.	.	.	T	0.46521	0.1397	M	0.77103	2.36	0.24756	N	0.992956	B;B;B;B;B	0.30686	0.042;0.173;0.006;0.29;0.023	B;B;B;B;B	0.36378	0.089;0.223;0.019;0.107;0.049	T	0.48246	-0.9052	9	0.66056	D	0.02	.	14.2558	0.66051	1.0:0.0:0.0:0.0	.	500;493;523;537;539	B4DZZ2;B3KV79;G3V1Z6;Q13948-2;Q13948	.;.;.;.;CASP_HUMAN	G	539;523;493;537	ENSP00000292538:S539G;ENSP00000449371:S523G;ENSP00000409745:S493G;ENSP00000414091:S537G	ENSP00000292538:S539G	S	+	1	0	CUX1	101707991	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.671000	0.91174	1.849000	0.53698	0.374000	0.22700	AGC		0.667	CUX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347534.3	NM_001913		5	17	0	0	0	1	0	5	17				
KLHL34	257240	broad.mit.edu	37	X	21674052	21674052	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:21674052C>T	ENST00000379499.2	-	1	2396	c.1855G>A	c.(1855-1857)Gca>Aca	p.A619T		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	619						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TGCAGCACTGCGCACCGCAGG	0.667																																						ENST00000379499.2																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(1855-1857)Gca>Aca		kelch-like family member 34							56.0	30.0	39.0					X																	21674052		2202	4300	6502	SO:0001583	missense	257240							g.chrX:21674052C>T	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1855G>A	X.37:g.21674052C>T	ENSP00000368813:p.Ala619Thr						p.A619T	NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN			1	2396	-			619						Missense_Mutation	SNP	ENST00000379499.2	37	c.1855G>A	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851566	0.32699	.	.	ENSG00000185915	ENST00000379499	T	0.67171	-0.25	5.35	5.35	0.76521	Kelch-type beta propeller (1);	0.075124	0.53938	D	0.000046	T	0.45135	0.1327	N	0.17723	0.515	0.40125	D	0.976647	P	0.47762	0.9	B	0.29716	0.106	T	0.55903	-0.8067	10	0.51188	T	0.08	.	13.1283	0.59368	0.1595:0.8404:0.0:0.0	.	619	Q8N239	KLH34_HUMAN	T	619	ENSP00000368813:A619T	ENSP00000368813:A619T	A	-	1	0	KLHL34	21583973	0.999000	0.42202	0.984000	0.44739	0.992000	0.81027	4.010000	0.57117	2.471000	0.83476	0.600000	0.82982	GCA		0.667	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		20	10	0	0	0	1	0	20	10				
RBM44	375316	broad.mit.edu	37	2	238728941	238728941	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:238728941C>T	ENST00000409864.1	+	5	2117	c.1863C>T	c.(1861-1863)cgC>cgT	p.R621R	RBM44_ENST00000444524.2_3'UTR|RBM44_ENST00000316997.4_Silent_p.R621R			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	620						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGTGTCGTCGCCATTGTTGTG	0.353																																						ENST00000316997.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1861-1863)cgC>cgT		RNA binding motif protein 44							54.0	50.0	51.0					2																	238728941		1879	4118	5997	SO:0001819	synonymous_variant	375316						nucleotide binding|RNA binding	g.chr2:238728941C>T	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1863C>T	2.37:g.238728941C>T						RBM44_ENST00000409864.1_Silent_p.R621R|RBM44_ENST00000444524.2_3'UTR	p.R621R	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	5	1995	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	620					A0AUW3	Silent	SNP	ENST00000409864.1	37	c.1863C>T	CCDS46554.1																																																																																				0.353	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		4	22	0	0	0	1	0	4	22				
ZBTB39	9880	broad.mit.edu	37	12	57397891	57397891	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:57397891T>C	ENST00000300101.2	-	2	896	c.811A>G	c.(811-813)Act>Gct	p.T271A		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	271					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)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TTGGTCCCAGTGGTAATGTCT	0.517																																						ENST00000300101.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(811-813)Act>Gct		zinc finger and BTB domain containing 39							96.0	87.0	90.0					12																	57397891		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57397891T>C	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.811A>G	12.37:g.57397891T>C	ENSP00000300101:p.Thr271Ala						p.T271A	NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN			2	896	-			271					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.811A>G	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	T	2.876	-0.232817	0.05983	.	.	ENSG00000166860	ENST00000300101	T	0.08807	3.05	5.02	2.57	0.30868	.	0.503624	0.18539	N	0.138241	T	0.05318	0.0141	N	0.19112	0.55	0.24671	N	0.993418	B	0.16603	0.018	B	0.13407	0.009	T	0.33599	-0.9862	10	0.62326	D	0.03	-2.0646	5.6565	0.17644	0.17:0.0:0.1777:0.6523	.	271	O15060	ZBT39_HUMAN	A	271	ENSP00000300101:T271A	ENSP00000300101:T271A	T	-	1	0	ZBTB39	55684158	0.806000	0.28996	0.469000	0.27204	0.869000	0.49853	0.084000	0.14891	0.346000	0.23899	0.528000	0.53228	ACT		0.517	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		39	132	0	0	0	1	0	39	132				
ZBTB24	9841	broad.mit.edu	37	6	109787184	109787184	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:109787184G>A	ENST00000230122.3	-	7	2131	c.1964C>T	c.(1963-1965)aCa>aTa	p.T655I	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	655					hematopoietic progenitor cell differentiation (GO:0002244)|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)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		GAGCTCCTCTGTTTGCTCTTG	0.542																																						ENST00000230122.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(1963-1965)aCa>aTa		zinc finger and BTB domain containing 24							143.0	134.0	137.0					6																	109787184		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109787184G>A	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1964C>T	6.37:g.109787184G>A	ENSP00000230122:p.Thr655Ile						p.T655I	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	7	2131	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	655					Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.1964C>T	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480682	0.26598	.	.	ENSG00000112365	ENST00000230122	T	0.10573	2.86	5.95	4.13	0.48395	.	0.245572	0.32041	N	0.006679	T	0.02342	0.0072	N	0.19112	0.55	0.09310	N	1	P	0.42409	0.779	B	0.33690	0.168	T	0.27673	-1.0067	10	0.87932	D	0	-13.9885	11.6169	0.51094	0.0:0.1145:0.6233:0.2622	.	655	O43167	ZBT24_HUMAN	I	655	ENSP00000230122:T655I	ENSP00000230122:T655I	T	-	2	0	ZBTB24	109893877	0.356000	0.24930	0.933000	0.37362	0.185000	0.23345	3.019000	0.49635	0.807000	0.34208	-0.188000	0.12872	ACA		0.542	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		21	71	0	0	0	1	0	21	71				
SPG7	6687	broad.mit.edu	37	16	89603315	89603315	+	Intron	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:89603315C>T	ENST00000268704.2	+	9	1339				SPG7_ENST00000341316.2_Silent_p.H489H	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)						anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCCTTTTGCACTGAAGATAGA	0.527																																						ENST00000341316.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1465-1467)caC>caT		spastic paraplegia 7 (pure and complicated autosomal recessive)							190.0	162.0	172.0					16																	89603315		2198	4300	6498	SO:0001627	intron_variant	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89603315C>T	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1324+4271C>T	16.37:g.89603315C>T						SPG7_ENST00000268704.2_Intron	p.H489H	NM_199367.1	NP_955399.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	10	1474	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	0					O75756|Q2TB70|Q58F00|Q96IB0	Silent	SNP	ENST00000268704.2	37	c.1467C>T	CCDS10977.1																																																																																				0.527	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		58	213	0	0	0	1	0	58	213				
MORC2	22880	broad.mit.edu	37	22	31338232	31338232	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:31338232A>G	ENST00000397641.3	-	7	861	c.453T>C	c.(451-453)aaT>aaC	p.N151N	MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000215862.4_Silent_p.N89N			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	151						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GGGTCCGAGCATTCCAGGTGG	0.498																																						ENST00000215862.4																			0				breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(265-267)aaT>aaC		MORC family CW-type zinc finger 2							114.0	115.0	115.0					22																	31338232		2203	4300	6503	SO:0001819	synonymous_variant	22880						ATP binding|zinc ion binding	g.chr22:31338232A>G	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.453T>C	22.37:g.31338232A>G						MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000397641.2_Silent_p.N151N	p.N89N	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN			8	1630	-			151					B2RNB1|Q9UF28|Q9Y6V2	Silent	SNP	ENST00000397641.3	37	c.267T>C																																																																																					0.498	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		8	213	0	0	0	1	0	8	213				
GABRR3	200959	broad.mit.edu	37	3	97731363	97731363	+	RNA	SNP	G	G	A	rs372131074		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:97731363G>A	ENST00000472788.1	-	0	356					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GGAAAGGAGAGCCTCTCGTCT	0.393																																						ENST00000472788.1																			0				large_intestine(2)|lung(1)	3								gamma-aminobutyric acid (GABA) A receptor, rho 3							149.0	140.0	142.0					3																	97731363		1846	4101	5947			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97731363G>A	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97731363G>A								NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN			0	356	-								Q9UIV9	RNA	SNP	ENST00000472788.1	37																																																																																						0.393	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			28	48	0	0	0	1	0	28	48				
DIDO1	11083	broad.mit.edu	37	20	61525511	61525511	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:61525511T>C	ENST00000266070.4	-	12	2933	c.2608A>G	c.(2608-2610)Aaa>Gaa	p.K870E	DIDO1_ENST00000395343.1_Missense_Mutation_p.K870E|DIDO1_ENST00000395340.1_Missense_Mutation_p.K870E|DIDO1_ENST00000395335.2_Missense_Mutation_p.K870E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	870					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTTTGTTTTTTCGGAGCTGGC	0.493																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(2608-2610)Aaa>Gaa		death inducer-obliterator 1							88.0	103.0	98.0					20																	61525511		2195	4295	6490	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61525511T>C	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2608A>G	20.37:g.61525511T>C	ENSP00000266070:p.Lys870Glu					DIDO1_ENST00000395335.2_Missense_Mutation_p.K870E|DIDO1_ENST00000395343.1_Missense_Mutation_p.K870E|DIDO1_ENST00000395340.1_Missense_Mutation_p.K870E	p.K870E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			12	2933	-	Breast(26;5.68e-08)		870					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.2608A>G	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.783063	0.49891	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.18016	2.57;2.57;2.24;2.24	6.02	4.92	0.64577	.	0.000000	0.45126	D	0.000385	T	0.41766	0.1173	M	0.78637	2.42	0.80722	D	1	P;D	0.69078	0.944;0.997	P;D	0.75020	0.719;0.985	T	0.34750	-0.9816	10	0.66056	D	0.02	-28.2253	12.3435	0.55107	0.0:0.0:0.1407:0.8593	.	870;870	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	E	870	ENSP00000266070:K870E;ENSP00000378752:K870E;ENSP00000378749:K870E;ENSP00000378744:K870E	ENSP00000266070:K870E	K	-	1	0	DIDO1	60995956	1.000000	0.71417	0.035000	0.18076	0.010000	0.07245	4.805000	0.62561	1.091000	0.41335	0.533000	0.62120	AAA		0.493	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		61	182	0	0	0	1	0	61	182				
ARHGEF12	23365	broad.mit.edu	37	11	120300189	120300189	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:120300189T>C	ENST00000397843.2	+	9	792	c.626T>C	c.(625-627)cTg>cCg	p.L209P	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.L190P|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.L106P	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	209					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GTAGAAATTCTGAGAAAAATG	0.343			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(625-627)cTg>cCg		Rho guanine nucleotide exchange factor (GEF) 12							75.0	74.0	74.0					11																	120300189		1809	4069	5878	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120300189T>C	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.626T>C	11.37:g.120300189T>C	ENSP00000380942:p.Leu209Pro					ARHGEF12_ENST00000356641.3_Missense_Mutation_p.L190P|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.L106P	p.L209P	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	9	792	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	209					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.626T>C	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.841466	0.71488	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.44881	0.91;0.91;0.91	5.87	5.87	0.94306	.	0.000000	0.36482	N	0.002577	T	0.62841	0.2461	M	0.63843	1.955	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.74348	0.901;0.983;0.961	T	0.65274	-0.6208	10	0.87932	D	0	-9.0452	16.5764	0.84681	0.0:0.0:0.0:1.0	.	106;190;209	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	P	209;190;106	ENSP00000380942:L209P;ENSP00000349056:L190P;ENSP00000432984:L106P	ENSP00000349056:L190P	L	+	2	0	ARHGEF12	119805399	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.099000	0.64554	2.371000	0.80710	0.533000	0.62120	CTG		0.343	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		20	62	0	0	0	1	0	20	62				
RFX4	5992	broad.mit.edu	37	12	107155231	107155231	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:107155231C>T	ENST00000392842.1	+	18	2606	c.2192C>T	c.(2191-2193)aCa>aTa	p.T731I	RFX4_ENST00000357881.4_Missense_Mutation_p.T740I|RFX4_ENST00000229387.5_Missense_Mutation_p.T637I|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	731					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GAGGCCTCTACAGGATGGGCT	0.388																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(2191-2193)aCa>aTa		regulatory factor X, 4 (influences HLA class II expression)							69.0	62.0	65.0					12																	107155231		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107155231C>T	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.2192C>T	12.37:g.107155231C>T	ENSP00000376585:p.Thr731Ile					RFX4_ENST00000229387.5_Missense_Mutation_p.T637I|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.T740I	p.T731I	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			18	2606	+			731					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.2192C>T	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053663	0.55218	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000229387	T;T;T	0.69040	-0.37;-0.37;0.58	5.69	5.69	0.88448	.	0.097817	0.64402	D	0.000001	T	0.58991	0.2161	N	0.19112	0.55	0.80722	D	1	P;P;P	0.42692	0.787;0.59;0.455	B;B;B	0.41988	0.372;0.286;0.104	T	0.65170	-0.6233	10	0.87932	D	0	-12.6242	19.8113	0.96547	0.0:1.0:0.0:0.0	.	637;740;731	B2RDW4;Q33E94-2;Q33E94	.;.;RFX4_HUMAN	I	731;740;637	ENSP00000376585:T731I;ENSP00000350552:T740I;ENSP00000229387:T637I	ENSP00000229387:T637I	T	+	2	0	RFX4	105679361	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.456000	0.80751	2.690000	0.91761	0.655000	0.94253	ACA		0.388	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		12	40	0	0	0	1	0	12	40				
LIG1	3978	broad.mit.edu	37	19	48654515	48654515	+	Missense_Mutation	SNP	G	G	A	rs564476088	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:48654515G>A	ENST00000263274.7	-	7	967	c.548C>T	c.(547-549)aCg>aTg	p.T183M	LIG1_ENST00000427526.2_Missense_Mutation_p.T152M|LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000536218.1_Intron	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	183					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTTGGGAGGCGTGGTGGGCTG	0.567								Nucleotide excision repair (NER)					G|||	2	0.000399361	0.0	0.0	5008	,	,		12618	0.0		0.0	False		,,,				2504	0.002					ENST00000263274.7																			0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(547-549)aCg>aTg	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						154.0	143.0	147.0					19																	48654515		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48654515G>A		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.548C>T	19.37:g.48654515G>A	ENSP00000263274:p.Thr183Met					LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.T152M|LIG1_ENST00000599165.1_5'UTR	p.T183M	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	7	967	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	183					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.548C>T	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	G	9.371	1.070591	0.20147	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000542460	T;T;T	0.58060	0.49;0.36;3.03	4.54	-0.526	0.11913	.	1.498560	0.03481	N	0.215059	T	0.47600	0.1454	L	0.51422	1.61	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.10450	0.005;0.005	T	0.39231	-0.9624	10	0.52906	T	0.07	-0.0148	7.3598	0.26739	0.4529:0.0:0.5471:0.0	.	152;183	B4DTU4;P18858	.;DNLI1_HUMAN	M	183;214;152;151	ENSP00000263274:T183M;ENSP00000442841:T152M;ENSP00000445928:T151M	ENSP00000263274:T183M	T	-	2	0	LIG1	53346327	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.139000	0.16036	-0.084000	0.12595	-0.254000	0.11334	ACG		0.567	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		52	167	0	0	0	1	0	52	167				
ZMYM3	9203	broad.mit.edu	37	X	70464697	70464697	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:70464697G>A	ENST00000353904.2	-	19	3241	c.3054C>T	c.(3052-3054)ggC>ggT	p.G1018G	ZMYM3_ENST00000373988.1_Silent_p.G1020G|ZMYM3_ENST00000373998.1_Silent_p.G1006G|ZMYM3_ENST00000314425.5_Silent_p.G1018G|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Silent_p.G1020G	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1018					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCCCTACCAGGCCACAATCAA	0.458																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3016-3018)ggC>ggT		zinc finger, MYM-type 3							69.0	52.0	58.0					X																	70464697		2203	4300	6503	SO:0001819	synonymous_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70464697G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3054C>T	X.37:g.70464697G>A						ZMYM3_ENST00000314425.5_Silent_p.G1018G|ZMYM3_ENST00000373988.1_Silent_p.G1020G|ZMYM3_ENST00000353904.2_Silent_p.G1018G|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Silent_p.G1020G	p.G1006G	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			19	3715	-	Renal(35;0.156)		1018					D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	c.3018C>T	CCDS14409.1																																																																																				0.458	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		6	3	0	0	0	1	0	6	3				
TTN	7273	broad.mit.edu	37	2	179439851	179439851	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179439851C>T	ENST00000591111.1	-	276	66309	c.66085G>A	c.(66085-66087)Gga>Aga	p.G22029R	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G21102R|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G23670R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14730R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14797R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14605R|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22029	Ig-like 115.				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)			ATTTGGTCTCCTTTTTTCCAT	0.423																																						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.(71008-71010)Gga>Aga		titin							53.0	49.0	50.0					2																	179439851		1893	4118	6011	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179439851C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66085G>A	2.37:g.179439851C>T	ENSP00000465570:p.Gly22029Arg					TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14605R|TTN_ENST00000342992.6_Missense_Mutation_p.G21102R|TTN_ENST00000591111.1_Missense_Mutation_p.G22029R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14730R|TTN_ENST00000342175.6_Missense_Mutation_p.G14797R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.G23670R	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)		326	71232	-			22029			Fibronectin type-III 72.		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.71008G>A		.	.	.	.	.	.	.	.	.	.	C	14.72	2.619255	0.46736	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61763	0.2373	L	0.59967	1.855	0.50313	D	0.999865	D;D;D;D	0.63880	0.993;0.993;0.993;0.993	P;P;P;D	0.63877	0.889;0.889;0.889;0.919	T	0.63125	-0.6707	9	0.87932	D	0	.	19.6031	0.95572	0.0:1.0:0.0:0.0	.	14605;14730;14797;22029	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	21102;14605;14797;14730;14603	ENSP00000343764:G21102R;ENSP00000434586:G14605R;ENSP00000340554:G14797R;ENSP00000352154:G14730R	ENSP00000340554:G14797R	G	-	1	0	TTN	179148097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.647000	0.89833	0.650000	0.86243	GGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	18	0	0	0	1	0	10	18				
DOCK4	9732	broad.mit.edu	37	7	111580270	111580270	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:111580270T>C	ENST00000437633.1	-	11	1128	c.872A>G	c.(871-873)aAt>aGt	p.N291S	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.N291S	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	291					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACTACAGGCATTCTTTTTTTC	0.443																																						ENST00000428084.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(871-873)aAt>aGt		dedicator of cytokinesis 4							192.0	196.0	195.0					7																	111580270		1939	4131	6070	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111580270T>C		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.872A>G	7.37:g.111580270T>C	ENSP00000404179:p.Asn291Ser					DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.N291S	p.N291S			Q8N1I0	DOCK4_HUMAN			11	1144	-		Acute lymphoblastic leukemia(1;0.0441)	291					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.872A>G	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.42|18.42	3.619921|3.619921	0.66787|0.66787	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.02709	.|4.19;4.19	6.06|6.06	4.91|4.91	0.64330|0.64330	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.04318|0.04318	0.0119|0.0119	L|L	0.38531|0.38531	1.155|1.155	0.80722|0.80722	D|D	1|1	.|B;P;B	.|0.41710	.|0.374;0.76;0.374	.|B;B;B	.|0.44108	.|0.113;0.441;0.148	T|T	0.55579|0.55579	-0.8119|-0.8119	5|10	.|0.36615	.|T	.|0.2	.|.	12.2164|12.2164	0.54408|0.54408	0.0:0.0662:0.0:0.9338|0.0:0.0662:0.0:0.9338	.|.	.|291;291;291	.|A4D0S8;Q149N5;Q8N1I0	.|.;.;DOCK4_HUMAN	V|S	279|279;291;291;279;290	.|ENSP00000410746:N291S;ENSP00000404179:N291S	.|ENSP00000345432:N279S	M|N	-|-	1|2	0|0	DOCK4|DOCK4	111367506|111367506	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	3.704000|3.704000	0.54815|0.54815	1.109000|1.109000	0.41680|0.41680	0.533000|0.533000	0.62120|0.62120	ATG|AAT		0.443	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		48	142	0	0	0	1	0	48	142				
PLEKHH2	130271	broad.mit.edu	37	2	43980807	43980807	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:43980807C>T	ENST00000282406.4	+	25	3813	c.3703C>T	c.(3703-3705)Ctg>Ttg	p.L1235L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1235	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGAAAAGTTGCTGTTAATGTA	0.323																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3703-3705)Ctg>Ttg		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							76.0	84.0	81.0					2																	43980807		2203	4298	6501	SO:0001819	synonymous_variant	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43980807C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3703C>T	2.37:g.43980807C>T							p.L1235L	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			25	3813	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1235			FERM.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	c.3703C>T	CCDS1812.1																																																																																				0.323	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		4	118	0	0	0	1	0	4	118				
CREB3L1	90993	broad.mit.edu	37	11	46332639	46332639	+	Missense_Mutation	SNP	G	G	A	rs376081099		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:46332639G>A	ENST00000529193.1	+	5	1103	c.652G>A	c.(652-654)Ggc>Agc	p.G218S	CREB3L1_ENST00000288400.3_Missense_Mutation_p.G218S			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	218					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		TGACAGCGACGGCTCCCAGAG	0.672			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	ENST00000529193.1				Dom	yes		11	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1			M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12						c.(652-654)Ggc>Agc		cAMP responsive element binding protein 3-like 1							44.0	52.0	49.0					11																	46332639		2053	4183	6236	SO:0001583	missense	90993				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:46332639G>A		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.652G>A	11.37:g.46332639G>A	ENSP00000434939:p.Gly218Ser					CREB3L1_ENST00000288400.3_Missense_Mutation_p.G218S	p.G218S			Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	5	1103	+			218					Q8N2D5|Q96CP0	Missense_Mutation	SNP	ENST00000529193.1	37	c.652G>A	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	G	34	5.300135	0.95574	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415	T;T	0.73469	-0.75;-0.75	5.22	4.31	0.51392	.	0.316995	0.33610	N	0.004732	T	0.65729	0.2719	M	0.73319	2.225	0.49687	D	0.999819	P	0.48503	0.911	B	0.28991	0.097	T	0.67213	-0.5727	10	0.29301	T	0.29	-29.6669	13.5026	0.61467	0.0754:0.0:0.9246:0.0	.	218	Q96BA8	CR3L1_HUMAN	S	218;218;130	ENSP00000434939:G218S;ENSP00000288400:G218S	ENSP00000288400:G218S	G	+	1	0	CREB3L1	46289215	1.000000	0.71417	0.964000	0.40570	0.971000	0.66376	4.569000	0.60865	1.205000	0.43262	0.650000	0.86243	GGC		0.672	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		37	74	0	0	0	1	0	37	74				
SPTBN5	51332	broad.mit.edu	37	15	42147810	42147810	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:42147810C>T	ENST00000320955.6	-	54	9382	c.9155G>A	c.(9154-9156)aGc>aAc	p.S3052N		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3052					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GATGCGTGGGCTGAACGCTTC	0.637																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(9154-9156)aGc>aAc		spectrin, beta, non-erythrocytic 5							20.0	23.0	22.0					15																	42147810		2035	4188	6223	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42147810C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9155G>A	15.37:g.42147810C>T	ENSP00000317790:p.Ser3052Asn						p.S3052N	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	54	9382	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	3052						Missense_Mutation	SNP	ENST00000320955.6	37	c.9155G>A		.	.	.	.	.	.	.	.	.	.	.	11.86	1.764849	0.31228	.	.	ENSG00000137877	ENST00000320955	T	0.50813	0.73	4.94	1.79	0.24919	.	0.440664	0.20743	N	0.086485	T	0.40448	0.1117	L	0.52759	1.655	0.09310	N	1	P	0.43231	0.801	B	0.43225	0.412	T	0.18241	-1.0343	10	0.36615	T	0.2	.	7.8464	0.29428	0.0:0.4686:0.4016:0.1298	.	3052	Q9NRC6	SPTN5_HUMAN	N	3052	ENSP00000317790:S3052N	ENSP00000317790:S3052N	S	-	2	0	SPTBN5	39935102	0.000000	0.05858	0.001000	0.08648	0.346000	0.29079	0.200000	0.17257	1.192000	0.43071	0.655000	0.94253	AGC		0.637	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		4	30	0	0	0	1	0	4	30				
AP1S1	1174	broad.mit.edu	37	7	100799968	100799968	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100799968C>T	ENST00000337619.5	+	2	215	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	33					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GAAGATGGTGCGCGAGCTCAT	0.542																																						ENST00000337619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8						c.(97-99)Cgc>Tgc		adaptor-related protein complex 1, sigma 1 subunit							45.0	49.0	47.0					7																	100799968		2047	4187	6234	SO:0001583	missense	1174				intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity	g.chr7:100799968C>T	AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.97C>T	7.37:g.100799968C>T	ENSP00000336666:p.Arg33Cys						p.R33C	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN			2	215	+	Lung NSC(181;0.168)|all_lung(186;0.215)		33					B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Missense_Mutation	SNP	ENST00000337619.5	37	c.97C>T	CCDS47669.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665138	0.67700	.	.	ENSG00000106367	ENST00000337619	.	.	.	5.84	4.95	0.65309	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.64402	D	0.000001	D	0.86573	0.5965	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88663	0.3190	9	0.87932	D	0	-1.1362	8.1675	0.31235	0.1549:0.764:0.0:0.0811	.	33	P61966	AP1S1_HUMAN	C	33	.	ENSP00000336666:R33C	R	+	1	0	AP1S1	100586688	0.095000	0.21747	0.995000	0.50966	0.610000	0.37248	0.542000	0.23222	2.767000	0.95098	0.561000	0.74099	CGC		0.542	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283		9	20	0	0	0	1	0	9	20				
TRPM3	80036	broad.mit.edu	37	9	73442894	73442894	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:73442894T>C	ENST00000377111.2	-	6	1085	c.842A>G	c.(841-843)aAg>aGg	p.K281R	TRPM3_ENST00000396280.5_Missense_Mutation_p.K128R|TRPM3_ENST00000357533.2_Missense_Mutation_p.K283R|TRPM3_ENST00000377101.1_Missense_Mutation_p.K128R|TRPM3_ENST00000408909.2_Missense_Mutation_p.K128R|TRPM3_ENST00000396285.1_Missense_Mutation_p.K128R|TRPM3_ENST00000360823.2_Missense_Mutation_p.K128R|TRPM3_ENST00000358082.3_Missense_Mutation_p.K128R|TRPM3_ENST00000423814.3_Missense_Mutation_p.K283R|TRPM3_ENST00000396292.4_Missense_Mutation_p.K128R|TRPM3_ENST00000361823.5_Missense_Mutation_p.K128R|TRPM3_ENST00000377106.1_Missense_Mutation_p.K128R|TRPM3_ENST00000377105.1_Missense_Mutation_p.K128R|TRPM3_ENST00000377110.3_Missense_Mutation_p.K281R|TRPM3_ENST00000396283.1_Missense_Mutation_p.K128R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	281					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AACAGTGAGCTTGCTCATGGG	0.463																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(841-843)aAg>aGg		transient receptor potential cation channel, subfamily M, member 3							200.0	183.0	189.0					9																	73442894		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73442894T>C	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.842A>G	9.37:g.73442894T>C	ENSP00000366315:p.Lys281Arg					TRPM3_ENST00000357533.2_Missense_Mutation_p.K283R|TRPM3_ENST00000396292.4_Missense_Mutation_p.K128R|TRPM3_ENST00000396285.1_Missense_Mutation_p.K128R|TRPM3_ENST00000396283.1_Missense_Mutation_p.K128R|TRPM3_ENST00000396280.5_Missense_Mutation_p.K128R|TRPM3_ENST00000360823.2_Missense_Mutation_p.K128R|TRPM3_ENST00000408909.2_Missense_Mutation_p.K128R|TRPM3_ENST00000377101.1_Missense_Mutation_p.K128R|TRPM3_ENST00000423814.3_Missense_Mutation_p.K283R|TRPM3_ENST00000377111.2_Missense_Mutation_p.K281R|TRPM3_ENST00000377106.1_Missense_Mutation_p.K128R|TRPM3_ENST00000358082.3_Missense_Mutation_p.K128R|TRPM3_ENST00000361823.5_Missense_Mutation_p.K128R|TRPM3_ENST00000377105.1_Missense_Mutation_p.K128R	p.K281R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			6	1085	-			281					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.842A>G		.	.	.	.	.	.	.	.	.	.	T	20.3	3.963003	0.74016	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823;ENST00000455451	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.35973	4.25;4.25;4.25;4.25;4.25;4.25;4.25;4.25;4.25;4.25;4.25;1.28;4.25;2.17	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.54367	0.1854	L	0.46741	1.465	0.54753	D	0.999988	B;D;P;P;P;D;B;P;D;P;B	0.76494	0.228;0.999;0.455;0.575;0.555;0.996;0.251;0.787;0.996;0.849;0.024	B;D;B;B;B;D;B;B;D;B;B	0.87578	0.064;0.998;0.261;0.259;0.142;0.987;0.097;0.175;0.987;0.395;0.017	T	0.53092	-0.8487	10	0.51188	T	0.08	-33.3176	16.1997	0.82060	0.0:0.0:0.0:1.0	.	281;283;128;281;281;281;283;128;128;281;128	Q9HCF6;Q4VXD2;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	TRPM3_HUMAN;.;.;.;.;.;.;.;.;.;.	R	281;281;128;128;128;283;128;128;128;128;283;128;128;128;128	ENSP00000366315:K281R;ENSP00000366314:K281R;ENSP00000366310:K128R;ENSP00000354066:K128R;ENSP00000366309:K128R;ENSP00000350140:K283R;ENSP00000386127:K128R;ENSP00000379581:K128R;ENSP00000379587:K128R;ENSP00000350791:K128R;ENSP00000389542:K283R;ENSP00000366305:K128R;ENSP00000379579:K128R;ENSP00000355395:K128R	ENSP00000350140:K283R	K	-	2	0	TRPM3	72632714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.994000	0.88315	2.240000	0.73641	0.528000	0.53228	AAG		0.463	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		8	184	0	0	0	1	0	8	184				
IFNGR2	3460	broad.mit.edu	37	21	34793935	34793935	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:34793935C>G	ENST00000290219.6	+	3	1003	c.355C>G	c.(355-357)Ctg>Gtg	p.L119V	IFNGR2_ENST00000405436.1_Missense_Mutation_p.L40V|IFNGR2_ENST00000381995.1_Missense_Mutation_p.L138V	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	119	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TCGAGCTGAGCTGGGAGCACT	0.483																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(355-357)Ctg>Gtg		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						171.0	143.0	152.0					21																	34793935		2203	4300	6503	SO:0001583	missense	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34793935C>G		CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.355C>G	21.37:g.34793935C>G	ENSP00000290219:p.Leu119Val					IFNGR2_ENST00000405436.1_Missense_Mutation_p.L40V|IFNGR2_ENST00000381995.1_Missense_Mutation_p.L138V	p.L119V	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			3	1003	+			119			Fibronectin type-III 1.		Q9BTL5	Missense_Mutation	SNP	ENST00000290219.6	37	c.355C>G	CCDS33544.1	.	.	.	.	.	.	.	.	.	.	C	9.631	1.136465	0.21123	.	.	ENSG00000159128	ENST00000290219;ENST00000381995;ENST00000405436	D;D;T	0.86497	-2.13;-2.13;-0.69	4.53	3.64	0.41730	Fibronectin, type III (2);Immunoglobulin-like fold (1);	1.146300	0.06631	N	0.759223	T	0.78355	0.4270	N	0.14661	0.345	0.09310	N	1	B;B	0.25772	0.134;0.134	B;B	0.25884	0.064;0.047	T	0.64326	-0.6434	10	0.28530	T	0.3	-21.6801	10.5846	0.45275	0.0:0.788:0.212:0.0	.	138;119	E7EUY1;P38484	.;INGR2_HUMAN	V	119;138;40	ENSP00000290219:L119V;ENSP00000371425:L138V;ENSP00000385044:L40V	ENSP00000290219:L119V	L	+	1	2	IFNGR2	33715805	0.006000	0.16342	0.007000	0.13788	0.317000	0.28152	0.308000	0.19314	1.243000	0.43853	0.655000	0.94253	CTG		0.483	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			43	149	0	0	0	1	0	43	149				
ZNF341	84905	broad.mit.edu	37	20	32328785	32328785	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:32328785A>T	ENST00000375200.1	+	2	474	c.109A>T	c.(109-111)Agt>Tgt	p.S37C	ZNF341_ENST00000342427.2_Missense_Mutation_p.S37C	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	37					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GACAGGCCAGAGTGTCAATGC	0.552																																						ENST00000375200.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						c.(109-111)Agt>Tgt		zinc finger protein 341							102.0	89.0	94.0					20																	32328785		2203	4300	6503	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32328785A>T	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.109A>T	20.37:g.32328785A>T	ENSP00000364346:p.Ser37Cys					ZNF341_ENST00000342427.2_Missense_Mutation_p.S37C	p.S37C			Q9BYN7	ZN341_HUMAN			2	474	+			37					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.109A>T		.	.	.	.	.	.	.	.	.	.	A	14.31	2.497377	0.44455	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.10099	3.15;2.91	5.27	1.68	0.24146	.	0.397620	0.29383	N	0.012317	T	0.08313	0.0207	N	0.19112	0.55	0.34317	D	0.686139	P;P	0.47484	0.833;0.896	B;P	0.45610	0.293;0.487	T	0.31336	-0.9947	10	0.44086	T	0.13	-1.023	8.8057	0.34936	0.7731:0.0:0.2269:0.0	.	37;37	Q9BYN7;Q9BYN7-2	ZN341_HUMAN;.	C	37	ENSP00000344308:S37C;ENSP00000364346:S37C	ENSP00000344308:S37C	S	+	1	0	ZNF341	31792446	0.911000	0.30947	0.681000	0.30009	0.568000	0.35870	3.405000	0.52630	0.073000	0.16731	0.482000	0.46254	AGT		0.552	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				6	104	0	0	0	1	0	6	104				
SLC30A6	55676	broad.mit.edu	37	2	32400414	32400414	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:32400414A>G	ENST00000282587.5	+	4	239	c.202A>G	c.(202-204)Att>Gtt	p.I68V	SLC30A6_ENST00000538303.1_Missense_Mutation_p.I39V|SLC30A6_ENST00000357055.3_Intron|SLC30A6_ENST00000406369.1_Intron|SLC30A6_ENST00000379343.2_Missense_Mutation_p.I68V|SLC30A6_ENST00000435660.1_Missense_Mutation_p.I68V	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	68					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTACCTGACCATTTTTGATCT	0.299																																						ENST00000282587.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(202-204)Att>Gtt		solute carrier family 30 (zinc transporter), member 6							97.0	90.0	92.0					2																	32400414		2203	4296	6499	SO:0001583	missense	55676					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	g.chr2:32400414A>G	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.202A>G	2.37:g.32400414A>G	ENSP00000282587:p.Ile68Val					SLC30A6_ENST00000406369.1_Intron|SLC30A6_ENST00000379343.2_Missense_Mutation_p.I68V|SLC30A6_ENST00000357055.3_Intron|SLC30A6_ENST00000538303.1_Missense_Mutation_p.I39V|SLC30A6_ENST00000435660.1_Missense_Mutation_p.I68V	p.I68V	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN			4	239	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		68					A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	ENST00000282587.5	37	c.202A>G	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	A	13.50	2.254342	0.39896	.	.	ENSG00000152683	ENST00000379343;ENST00000440718;ENST00000282587;ENST00000435660;ENST00000538303	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.19	5.19	0.71726	.	0.052278	0.64402	D	0.000001	T	0.47377	0.1442	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.20780	0.003;0.048;0.032;0.009	B;B;B;B	0.21360	0.012;0.034;0.028;0.015	T	0.39542	-0.9609	10	0.29301	T	0.29	-10.9123	14.051	0.64736	1.0:0.0:0.0:0.0	.	39;68;68;68	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	V	68;39;68;68;39	ENSP00000393946:I39V;ENSP00000282587:I68V;ENSP00000399005:I68V;ENSP00000440678:I39V	ENSP00000282587:I68V	I	+	1	0	SLC30A6	32253918	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.117000	0.77129	1.950000	0.56595	0.482000	0.46254	ATT		0.299	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2			17	18	0	0	0	1	0	17	18				
GCN1L1	10985	broad.mit.edu	37	12	120585045	120585045	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:120585045C>T	ENST00000300648.6	-	38	4770	c.4758G>A	c.(4756-4758)acG>acA	p.T1586T		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1586					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGAGGGATCCGTCAGGGCAT	0.567																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(4756-4758)acG>acA		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							64.0	68.0	66.0					12																	120585045		1980	4166	6146	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120585045C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4758G>A	12.37:g.120585045C>T							p.T1586T	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			38	4770	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1586					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.4758G>A	CCDS41847.1																																																																																				0.567	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			26	47	0	0	0	1	0	26	47				
ATP8B3	148229	broad.mit.edu	37	19	1802636	1802636	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1802636T>C	ENST00000310127.6	-	11	1151	c.913A>G	c.(913-915)Acg>Gcg	p.T305A	ATP8B3_ENST00000539485.1_Missense_Mutation_p.T305A|ATP8B3_ENST00000526092.2_Missense_Mutation_p.T252A|ATP8B3_ENST00000525591.1_Missense_Mutation_p.T252A	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	305					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTCACACGTCACTGTGCCT	0.617																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(913-915)Acg>Gcg		ATPase, aminophospholipid transporter, class I, type 8B, member 3							66.0	71.0	70.0					19																	1802636		2107	4218	6325	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1802636T>C	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.913A>G	19.37:g.1802636T>C	ENSP00000311336:p.Thr305Ala					ATP8B3_ENST00000526092.1_Missense_Mutation_p.T252A|ATP8B3_ENST00000525591.1_Missense_Mutation_p.T252A|ATP8B3_ENST00000310127.6_Missense_Mutation_p.T305A	p.T305A			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1146	-		Hepatocellular(1079;0.137)	305					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.913A>G	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	t	0.017	-1.501573	0.01001	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	3.72	2.68	0.31781	ATPase, P-type, ATPase-associated domain (1);	1.911950	0.02792	U	0.122195	T	0.59851	0.2224	L	0.41573	1.285	0.09310	N	0.999997	P;B;B	0.36282	0.546;0.139;0.108	B;B;B	0.27076	0.069;0.056;0.076	T	0.47812	-0.9088	10	0.09338	T	0.73	.	4.8967	0.13753	0.0:0.3456:0.0:0.6544	.	252;305;252	F5H3R9;O60423;Q7Z485	.;AT8B3_HUMAN;.	A	305;305;252;252;252	ENSP00000311336:T305A;ENSP00000443574:T305A;ENSP00000437115:T252A;ENSP00000445204:T252A	ENSP00000311336:T305A	T	-	1	0	ATP8B3	1753636	0.000000	0.05858	0.764000	0.31436	0.023000	0.10783	0.007000	0.13174	0.628000	0.30357	0.370000	0.22315	ACG		0.617	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		6	26	0	0	0	1	0	6	26				
BPIFB4	149954	broad.mit.edu	37	20	31676817	31676817	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:31676817C>T	ENST00000375483.3	+	6	972	c.972C>T	c.(970-972)gcC>gcT	p.A324A		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	324						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										GAGTCCTGGCCGACGTCCTCC	0.597																																						ENST00000375483.3																			0											c.(970-972)gcC>gcT		BPI fold containing family B, member 4							145.0	135.0	139.0					20																	31676817		2203	4300	6503	SO:0001819	synonymous_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31676817C>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.972C>T	20.37:g.31676817C>T							p.A324A	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			6	972	+			324					Q5TDX6	Silent	SNP	ENST00000375483.3	37	c.972C>T	CCDS13213.2																																																																																				0.597	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		41	164	0	0	0	1	0	41	164				
GNAS	2778	broad.mit.edu	37	20	57415854	57415854	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:57415854G>A	ENST00000313949.7	+	1	1082	c.693G>A	c.(691-693)ccG>ccA	p.P231P	GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Silent_p.P231P|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Silent_p.P231P|GNAS-AS1_ENST00000424094.2_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	326			R -> H (in AHO; impairs the ability to mediate hormonal stimulation). {ECO:0000269|PubMed:11450852}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACGCGTCCCCGGAGTCCCCTT	0.592			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000313949.7				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(691-693)ccG>ccA		GNAS complex locus							21.0	20.0	20.0					20																	57415854		2187	4275	6462	SO:0001819	synonymous_variant	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415854G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.693G>A	20.37:g.57415854G>A		TSP Lung(22;0.16)				GNAS_ENST00000371075.3_Silent_p.P231P|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Silent_p.P231P|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA	p.P231P			P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	1082	+	all_lung(29;0.0104)		326		R -> H (in AHO; impairs the ability to mediate hormonal stimulation).			A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000313949.7	37	c.693G>A	CCDS13471.1	.	.	.	.	.	.	.	.	.	.	G	4.885	0.164427	0.09287	.	.	ENSG00000087460	ENST00000419558	.	.	.	4.45	1.32	0.21799	.	.	.	.	.	T	0.51041	0.1651	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35895	-0.9770	4	.	.	.	.	4.7963	0.13274	0.2043:0.1794:0.6163:0.0	.	.	.	.	Q	99	.	.	R	+	2	0	GNAS	56849249	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	0.216000	0.17585	0.187000	0.20147	0.585000	0.79938	CGG		0.592	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		9	31	0	0	0	1	0	9	31				
LCT	3938	broad.mit.edu	37	2	136575315	136575315	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:136575315T>C	ENST00000264162.2	-	6	1313	c.1303A>G	c.(1303-1305)Aag>Gag	p.K435E	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	435	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GAGGCTACCTTGTGGTAACTG	0.652																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(1303-1305)Aag>Gag		lactase							72.0	67.0	69.0					2																	136575315		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136575315T>C	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1303A>G	2.37:g.136575315T>C	ENSP00000264162:p.Lys435Glu						p.K435E	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	1313	-			435			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.1303A>G	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.626900	0.66901	.	.	ENSG00000115850	ENST00000264162	T	0.34859	1.34	5.77	3.37	0.38596	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.199308	0.51477	D	0.000085	T	0.45756	0.1358	M	0.86502	2.82	0.48341	D	0.999634	P	0.39424	0.673	B	0.42522	0.39	T	0.49916	-0.8888	10	0.56958	D	0.05	-25.7998	8.4653	0.32953	0.0:0.0678:0.1329:0.7994	.	435	P09848	LPH_HUMAN	E	435	ENSP00000264162:K435E	ENSP00000264162:K435E	K	-	1	0	LCT	136291785	1.000000	0.71417	0.982000	0.44146	0.420000	0.31355	5.121000	0.64691	1.091000	0.41335	0.533000	0.62120	AAG		0.652	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		40	109	0	0	0	1	0	40	109				
CABIN1	23523	broad.mit.edu	37	22	24563208	24563208	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:24563208G>A	ENST00000398319.2	+	32	5994	c.5609G>A	c.(5608-5610)gGc>gAc	p.G1870D	CABIN1_ENST00000405822.2_Missense_Mutation_p.G1791D|CABIN1_ENST00000337989.7_Missense_Mutation_p.G295D|CABIN1_ENST00000263119.5_Missense_Mutation_p.G1870D|CABIN1_ENST00000485008.1_3'UTR	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1870					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGGCAGCAGGGCCAGAAGGGT	0.627																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(5608-5610)gGc>gAc		calcineurin binding protein 1							56.0	54.0	55.0					22																	24563208		2202	4300	6502	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24563208G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.5609G>A	22.37:g.24563208G>A	ENSP00000381364:p.Gly1870Asp					CABIN1_ENST00000337989.7_Missense_Mutation_p.G295D|CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000263119.5_Missense_Mutation_p.G1870D|CABIN1_ENST00000405822.2_Missense_Mutation_p.G1791D	p.G1870D	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			32	5994	+			1870					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.5609G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877434	0.91664	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.01	5.01	0.66863	.	0.058022	0.64402	N	0.000002	T	0.37183	0.0994	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.09335	-1.0679	10	0.51188	T	0.08	.	17.7539	0.88444	0.0:0.0:1.0:0.0	.	295;1791;1870	B5MEB3;G5E9F3;Q9Y6J0	.;.;CABIN_HUMAN	D	1870;1791;1870;295;295	ENSP00000263119:G1870D;ENSP00000384694:G1791D;ENSP00000381364:G1870D;ENSP00000336991:G295D	ENSP00000263119:G1870D	G	+	2	0	CABIN1	22893208	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.685000	0.98661	2.503000	0.84419	0.558000	0.71614	GGC		0.627	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		10	34	0	0	0	1	0	10	34				
ARHGAP39	80728	broad.mit.edu	37	8	145758541	145758541	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145758541G>A	ENST00000276826.5	-	7	2965	c.2764C>T	c.(2764-2766)Ctc>Ttc	p.L922F	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.L922F|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.L953F			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	922	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TCACCGTTGAGCGCCAGCACC	0.672																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(2764-2766)Ctc>Ttc		Rho GTPase activating protein 39							62.0	58.0	59.0					8																	145758541		2203	4300	6503	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145758541G>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2764C>T	8.37:g.145758541G>A	ENSP00000276826:p.Leu922Phe					ARHGAP39_ENST00000377307.2_Missense_Mutation_p.L953F|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.L922F	p.L922F			Q9C0H5	RHG39_HUMAN			7	2965	-			922			Rho-GAP.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.2764C>T		.	.	.	.	.	.	.	.	.	.	G	24.8	4.570662	0.86542	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.70749	-0.51;-0.27;-0.51	4.94	4.94	0.65067	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	D	0.87152	0.6106	M	0.91140	3.18	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.89953	0.4081	10	0.72032	D	0.01	-60.1898	16.014	0.80422	0.0:0.0:1.0:0.0	.	922;953	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	F	922;953;922	ENSP00000276826:L922F;ENSP00000366522:L953F;ENSP00000445075:L922F	ENSP00000276826:L922F	L	-	1	0	ARHGAP39	145729349	1.000000	0.71417	0.974000	0.42286	0.954000	0.61252	6.682000	0.74528	2.448000	0.82819	0.563000	0.77884	CTC		0.672	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			5	181	0	0	0	1	0	5	181				
TOX4	9878	broad.mit.edu	37	14	21960674	21960674	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:21960674T>C	ENST00000405508.1	+	8	1175	c.899T>C	c.(898-900)gTg>gCg	p.V300A	TOX4_ENST00000448790.2_Missense_Mutation_p.V277A|TOX4_ENST00000262709.3_Missense_Mutation_p.V300A			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	300						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TAGGCCACTGTGGAAACAGTG	0.408																																						ENST00000405508.1																			0				large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(898-900)gTg>gCg		TOX high mobility group box family member 4							119.0	113.0	115.0					14																	21960674		2203	4300	6503	SO:0001583	missense	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21960674T>C	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.899T>C	14.37:g.21960674T>C	ENSP00000385102:p.Val300Ala					TOX4_ENST00000262709.3_Missense_Mutation_p.V300A|TOX4_ENST00000448790.2_Missense_Mutation_p.V277A	p.V300A			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1175	+	all_cancers(95;0.000465)		300					B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	c.899T>C	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054697	0.36277	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.40476	1.03;1.03;1.03	4.8	4.8	0.61643	High mobility group, superfamily (1);	0.124300	0.52532	D	0.000078	T	0.30008	0.0751	N	0.24115	0.695	0.43099	D	0.994786	B;D	0.53151	0.064;0.958	B;P	0.46629	0.012;0.522	T	0.11867	-1.0570	10	0.02654	T	1	.	13.7298	0.62781	0.0:0.0:0.0:1.0	.	277;300	B4DPY8;O94842	.;TOX4_HUMAN	A	300;300;277;228	ENSP00000385102:V300A;ENSP00000262709:V300A;ENSP00000393080:V277A	ENSP00000262709:V300A	V	+	2	0	TOX4	21030514	0.999000	0.42202	1.000000	0.80357	0.925000	0.55904	3.037000	0.49775	2.145000	0.66743	0.397000	0.26171	GTG		0.408	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		10	195	0	0	0	1	0	10	195				
ZCCHC2	54877	broad.mit.edu	37	18	60241692	60241692	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:60241692T>C	ENST00000269499.5	+	13	2796	c.2378T>C	c.(2377-2379)tTa>tCa	p.L793S	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.L472S	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	793						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCTTCCCCTTTACCTATTCCA	0.488																																						ENST00000269499.5																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(2377-2379)tTa>tCa		zinc finger, CCHC domain containing 2							110.0	108.0	109.0					18																	60241692		1997	4168	6165	SO:0001583	missense	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60241692T>C	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2378T>C	18.37:g.60241692T>C	ENSP00000269499:p.Leu793Ser					ZCCHC2_ENST00000586834.1_Missense_Mutation_p.L472S	p.L793S	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN			13	2796	+			793					B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	c.2378T>C	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.277253	0.59758	.	.	ENSG00000141664	ENST00000269499	T	0.39229	1.09	5.81	5.81	0.92471	.	0.000000	0.53938	D	0.000047	T	0.49558	0.1564	L	0.29908	0.895	0.33366	D	0.572942	D	0.76494	0.999	D	0.85130	0.997	T	0.48658	-0.9016	10	0.07990	T	0.79	-9.2322	16.1668	0.81768	0.0:0.0:0.0:1.0	.	793	Q9C0B9	ZCHC2_HUMAN	S	793	ENSP00000269499:L793S	ENSP00000269499:L793S	L	+	2	0	ZCCHC2	58392672	0.774000	0.28592	0.085000	0.20634	0.994000	0.84299	4.195000	0.58400	2.210000	0.71456	0.533000	0.62120	TTA		0.488	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		9	89	0	0	0	1	0	9	89				
CLSTN3	9746	broad.mit.edu	37	12	7288935	7288935	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:7288935C>T	ENST00000266546.6	+	6	1326	c.876C>T	c.(874-876)gcC>gcT	p.A292A	CLSTN3_ENST00000537408.1_Silent_p.A304A	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	292					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GCCATGTGGCCAAGGGCTGTG	0.587																																						ENST00000537408.1																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(910-912)gcC>gcT		calsyntenin 3							76.0	68.0	71.0					12																	7288935		2203	4300	6503	SO:0001819	synonymous_variant	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7288935C>T	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.876C>T	12.37:g.7288935C>T						CLSTN3_ENST00000266546.6_Silent_p.A292A	p.A304A			Q9BQT9	CSTN3_HUMAN			5	1450	+			292					D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	37	c.912C>T	CCDS8575.1																																																																																				0.587	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		14	63	0	0	0	1	0	14	63				
ATP1B3	483	broad.mit.edu	37	3	141622465	141622465	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:141622465T>C	ENST00000286371.3	+	2	301	c.113T>C	c.(112-114)tTg>tCg	p.L38S	ATP1B3_ENST00000462082.1_5'UTR|RNU6-509P_ENST00000363519.1_RNA|ATP1B3_ENST00000539728.1_Missense_Mutation_p.L24S	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	38					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|transport (GO:0006810)	caveola (GO:0005901)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|sodium:potassium-exchanging ATPase activity (GO:0005391)			cervix(1)|endometrium(1)|lung(2)	4						TTTACAGGTTTGATCTTGCTC	0.408																																						ENST00000539728.1																			0				cervix(1)|endometrium(1)|lung(2)	4						c.(70-72)tTg>tCg		ATPase, Na+/K+ transporting, beta 3 polypeptide							189.0	165.0	173.0					3																	141622465		2203	4300	6503	SO:0001583	missense	483				ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	g.chr3:141622465T>C	BC011835	CCDS3121.1	3q23	2012-10-22			ENSG00000069849	ENSG00000069849		"""CD molecules"", ""ATPases / P-type"""	806	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-3"", ""sodium pump subunit beta-3"", ""sodium-potassium ATPase subunit beta 3 (non-catalytic)"""	601867				8798450, 9457675	Standard	NM_001679		Approved	FLJ29027, CD298	uc003eug.1	P54709	OTTHUMG00000159081	ENST00000286371.3:c.113T>C	3.37:g.141622465T>C	ENSP00000286371:p.Leu38Ser					ATP1B3_ENST00000286371.3_Missense_Mutation_p.L38S|ATP1B3_ENST00000462082.1_5'UTR	p.L24S			P54709	AT1B3_HUMAN			3	364	+			38					B7Z1N7	Missense_Mutation	SNP	ENST00000286371.3	37	c.71T>C	CCDS3121.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439145	0.83885	.	.	ENSG00000069849	ENST00000286371;ENST00000539728;ENST00000495216	T;T;T	0.32515	1.45;1.45;1.45	5.28	5.28	0.74379	.	0.064948	0.64402	D	0.000010	T	0.63082	0.2481	M	0.92833	3.35	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.67898	-0.5551	10	0.22109	T	0.4	-10.7007	15.5072	0.75750	0.0:0.0:0.0:1.0	.	24;38	D3DNF9;P54709	.;AT1B3_HUMAN	S	38;24;24	ENSP00000286371:L38S;ENSP00000440307:L24S;ENSP00000419962:L24S	ENSP00000286371:L38S	L	+	2	0	ATP1B3	143105155	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.470000	0.80973	2.122000	0.65172	0.454000	0.30748	TTG		0.408	ATP1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353218.1	NM_001679		15	49	0	0	0	1	0	15	49				
AKNA	80709	broad.mit.edu	37	9	117124719	117124719	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:117124719G>T	ENST00000307564.4	-	8	2044	c.1883C>A	c.(1882-1884)tCc>tAc	p.S628Y	AKNA_ENST00000312033.3_Missense_Mutation_p.S628Y|AKNA_ENST00000223791.3_Missense_Mutation_p.S88Y|AKNA_ENST00000374088.3_Missense_Mutation_p.S628Y|AKNA_ENST00000374075.5_Missense_Mutation_p.S547Y	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	628					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	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)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CGTCCCCTTGGAGCCGGCAAG	0.647																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(1882-1884)tCc>tAc		AT-hook transcription factor							29.0	34.0	32.0					9																	117124719		2203	4300	6503	SO:0001583	missense	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117124719G>T	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1883C>A	9.37:g.117124719G>T	ENSP00000303769:p.Ser628Tyr					AKNA_ENST00000223791.3_Missense_Mutation_p.S88Y|AKNA_ENST00000374088.3_Missense_Mutation_p.S628Y|AKNA_ENST00000312033.3_Missense_Mutation_p.S628Y|AKNA_ENST00000374075.5_Missense_Mutation_p.S547Y	p.S628Y	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			8	2044	-			628					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	c.1883C>A	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	g	15.39	2.818877	0.50633	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000223791;ENST00000374075;ENST00000312033	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.7	3.79	0.43588	.	0.136344	0.34291	N	0.004098	T	0.56645	0.1999	L	0.55481	1.735	0.21967	N	0.999446	D;D	0.89917	1.0;0.999	D;D	0.85130	0.981;0.997	T	0.47873	-0.9083	10	0.72032	D	0.01	-9.9282	10.7113	0.45984	0.0:0.1927:0.8073:0.0	.	628;547	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	Y	628;469;628;88;547;628	ENSP00000303769:S628Y;ENSP00000363201:S628Y;ENSP00000223791:S88Y;ENSP00000363188:S547Y;ENSP00000309222:S628Y	ENSP00000223791:S88Y	S	-	2	0	AKNA	116164540	0.768000	0.28519	0.063000	0.19743	0.011000	0.07611	4.761000	0.62243	1.191000	0.43056	0.550000	0.68814	TCC		0.647	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		8	23	1	0	0.000274275	1	0.00027791	8	23				
OBSCN	84033	broad.mit.edu	37	1	228400338	228400338	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:228400338T>C	ENST00000422127.1	+	2	898	c.854T>C	c.(853-855)gTg>gCg	p.V285A	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.V285A|OBSCN_ENST00000284548.11_Missense_Mutation_p.V285A|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	285	Ig-like 3.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGCGCCACGTGGTGTACGAG	0.672																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(853-855)gTg>gCg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							56.0	66.0	62.0					1																	228400338		2133	4219	6352	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228400338T>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.854T>C	1.37:g.228400338T>C	ENSP00000409493:p.Val285Ala					OBSCN_ENST00000422127.1_Missense_Mutation_p.V285A|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V285A	p.V285A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			2	928	+		Prostate(94;0.0405)	285			Ig-like 3.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.854T>C	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	t	18.05	3.537214	0.65085	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.66280	-0.2;-0.2	4.26	3.12	0.35913	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.452102	0.18406	N	0.142209	T	0.43964	0.1271	N	0.25144	0.715	0.80722	D	1	B;B	0.24426	0.103;0.084	B;B	0.25614	0.062;0.037	T	0.12041	-1.0563	10	0.16420	T	0.52	.	9.3817	0.38318	0.0:0.0861:0.0:0.9139	.	285;285	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	A	285	ENSP00000284548:V285A;ENSP00000409493:V285A	ENSP00000284548:V285A	V	+	2	0	OBSCN	226466961	1.000000	0.71417	0.895000	0.35142	0.984000	0.73092	6.067000	0.71193	0.512000	0.28257	0.454000	0.30748	GTG		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		26	104	0	0	0	1	0	26	104				
FZD8	8325	broad.mit.edu	37	10	35929076	35929076	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:35929076T>C	ENST00000374694.1	-	1	1286	c.1282A>G	c.(1282-1284)Aag>Gag	p.K428E	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	428					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TTGCCCCACTTCATACCGGCC	0.622																																						ENST00000374694.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(1282-1284)Aag>Gag		frizzled family receptor 8							49.0	47.0	47.0					10																	35929076		2203	4300	6503	SO:0001583	missense	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35929076T>C	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.1282A>G	10.37:g.35929076T>C	ENSP00000363826:p.Lys428Glu						p.K428E	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN			1	1286	-			428						Missense_Mutation	SNP	ENST00000374694.1	37	c.1282A>G	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.029051	0.54790	.	.	ENSG00000177283	ENST00000374694	D	0.84442	-1.85	3.74	3.74	0.42951	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000001	D	0.93106	0.7805	M	0.91140	3.18	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.94012	0.7285	10	0.62326	D	0.03	.	12.5439	0.56188	0.0:0.0:0.0:1.0	.	428	Q9H461	FZD8_HUMAN	E	428	ENSP00000363826:K428E	ENSP00000363826:K428E	K	-	1	0	FZD8	35969082	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	5.676000	0.68131	1.679000	0.50963	0.240000	0.17902	AAG		0.622	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		13	23	0	0	0	1	0	13	23				
CUX1	1523	broad.mit.edu	37	7	101840288	101840288	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:101840288G>C	ENST00000292535.7	+	15	1635	c.1597G>C	c.(1597-1599)Gcc>Ccc	p.A533P	SNORA48_ENST00000517015.1_RNA|CUX1_ENST00000546411.2_Missense_Mutation_p.A431P|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.A431P|CUX1_ENST00000360264.3_Missense_Mutation_p.A544P|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.A533P|CUX1_ENST00000550008.2_Missense_Mutation_p.A533P|CUX1_ENST00000393824.3_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	533					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAATGGCATGGCCCCATCCCC	0.522																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(1630-1632)Gcc>Ccc		cut-like homeobox 1							86.0	89.0	88.0					7																	101840288		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101840288G>C	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1597G>C	7.37:g.101840288G>C	ENSP00000292535:p.Ala533Pro					CUX1_ENST00000556210.1_Missense_Mutation_p.A431P|CUX1_ENST00000549414.2_Missense_Mutation_p.A533P|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.A533P|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.A431P|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.A533P	p.A544P	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			15	1650	+			533					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.1630G>C	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941641	0.53079	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.61274	0.12;0.12;0.13;0.14;0.13;0.17	5.71	5.71	0.89125	.	0.206707	0.41001	D	0.000976	T	0.56920	0.2018	L	0.29908	0.895	0.80722	D	1	D;D	0.57571	0.966;0.98	P;P	0.53649	0.543;0.731	T	0.50381	-0.8835	10	0.24483	T	0.36	-15.0664	15.4579	0.75330	0.0:0.0:0.8608:0.1392	.	533;544	P39880;P39880-3	CUX1_HUMAN;.	P	544;533;533;533;431;431	ENSP00000353401:A544P;ENSP00000292535:A533P;ENSP00000446630:A533P;ENSP00000447373:A533P;ENSP00000450125:A431P;ENSP00000451558:A431P	ENSP00000292535:A533P	A	+	1	0	CUX1	101627008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.643000	0.67895	2.691000	0.91804	0.561000	0.74099	GCC		0.522	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		7	157	0	0	0	1	0	7	157				
SCGB3A2	117156	broad.mit.edu	37	5	147261109	147261109	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:147261109T>C	ENST00000296694.4	+	2	249	c.156T>C	c.(154-156)ctT>ctC	p.L52L	SCGB3A2_ENST00000514688.1_3'UTR|SCGB3A2_ENST00000504320.1_Silent_p.L7L|C5orf46_ENST00000510432.1_Intron	NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	secretoglobin, family 3A, member 2	52						endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAGCTTCTTCTGAAAACTC	0.473																																						ENST00000296694.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6						c.(154-156)ctT>ctC		secretoglobin, family 3A, member 2							149.0	149.0	149.0					5																	147261109		2203	4300	6503	SO:0001819	synonymous_variant	117156					extracellular region	binding	g.chr5:147261109T>C	AF313455	CCDS4287.1	5q32	2011-12-14			ENSG00000164265	ENSG00000164265		"""Secretoglobins"""	18391	protein-coding gene	gene with protein product	"""uteroglobin-related protein 1"", ""pneumo secretory protein 1"", ""uteroglobin related protein 1"""	606531				11682631, 22155607	Standard	NM_054023		Approved	UGRP1, LU103, PNSP1	uc003lot.2	Q96PL1	OTTHUMG00000129729	ENST00000296694.4:c.156T>C	5.37:g.147261109T>C						SCGB3A2_ENST00000504320.1_Silent_p.L7L|C5orf46_ENST00000510432.1_Intron|SCGB3A2_ENST00000514688.1_3'UTR	p.L52L	NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	249	+			52						Silent	SNP	ENST00000296694.4	37	c.156T>C	CCDS4287.1																																																																																				0.473	SCGB3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251939.1	NM_054023		38	111	0	0	0	1	0	38	111				
MCM3AP	8888	broad.mit.edu	37	21	47704204	47704204	+	Missense_Mutation	SNP	G	G	A	rs572275194		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:47704204G>A	ENST00000397708.1	-	2	1251	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W	YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000329319.3_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.R333W|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000397701.4_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	333	FG-repeats.		R -> L (in dbSNP:rs17182552). {ECO:0000269|Ref.2}.		DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GTACCTCCCCGGGGTCGATTC	0.537																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(997-999)Cgg>Tgg		minichromosome maintenance complex component 3 associated protein							106.0	108.0	107.0					21																	47704204		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47704204G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.997C>T	21.37:g.47704204G>A	ENSP00000380820:p.Arg333Trp					MCM3AP_ENST00000291688.1_Missense_Mutation_p.R333W	p.R333W			O60318	MCM3A_HUMAN			2	1251	-	Breast(49;0.112)		333		R -> L (in dbSNP:rs17182552).			C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.997C>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634281	0.47049	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.18960	2.18;2.18	5.42	2.52	0.30459	.	0.302859	0.33792	N	0.004549	T	0.25382	0.0617	L	0.32530	0.975	0.09310	N	1	D	0.89917	1.0	P	0.61874	0.895	T	0.04128	-1.0975	10	0.66056	D	0.02	-27.7356	4.3606	0.11201	0.0739:0.129:0.4:0.3972	.	333	O60318	MCM3A_HUMAN	W	333	ENSP00000380820:R333W;ENSP00000291688:R333W	ENSP00000291688:R333W	R	-	1	2	MCM3AP	46528632	0.733000	0.28132	0.968000	0.41197	0.536000	0.34869	2.168000	0.42424	0.598000	0.29829	0.563000	0.77884	CGG		0.537	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		42	160	0	0	0	1	0	42	160				
LMLN	89782	broad.mit.edu	37	3	197687215	197687215	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:197687215A>G	ENST00000330198.4	+	1	145	c.123A>G	c.(121-123)ttA>ttG	p.L41L	IQCG_ENST00000480302.1_5'Flank|IQCG_ENST00000265239.6_5'Flank|LMLN_ENST00000332636.5_Intron|LMLN_ENST00000482695.1_Intron|LMLN_ENST00000420910.2_Silent_p.L41L	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	41					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GAAGCGTTTTACTCCTGTTGG	0.687																																						ENST00000330198.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(121-123)ttA>ttG		leishmanolysin-like (metallopeptidase M8 family)							47.0	53.0	51.0					3																	197687215		2203	4299	6502	SO:0001819	synonymous_variant	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197687215A>G	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.123A>G	3.37:g.197687215A>G						LMLN_ENST00000482695.1_Intron|LMLN_ENST00000420910.2_Silent_p.L41L|LMLN_ENST00000332636.5_Intron	p.L41L	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	1	145	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	41					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Silent	SNP	ENST00000330198.4	37	c.123A>G	CCDS3332.1																																																																																				0.687	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		4	158	0	0	0	1	0	4	158				
RAG1	5896	broad.mit.edu	37	11	36597387	36597387	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:36597387A>T	ENST00000299440.5	+	2	2645	c.2533A>T	c.(2533-2535)Aac>Tac	p.N845Y		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	845					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAAGAAGATGAACCTCAAACC	0.473									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(2533-2535)Aac>Tac		recombination activating gene 1							83.0	79.0	80.0					11																	36597387		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597387A>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2533A>T	11.37:g.36597387A>T	ENSP00000299440:p.Asn845Tyr						p.N845Y	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	2645	+	all_lung(20;0.226)	all_hematologic(20;0.107)	845					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2533A>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	A	18.58	3.654092	0.67472	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.88124	-2.34;-2.34	6.13	6.13	0.99165	.	0.107668	0.64402	D	0.000004	D	0.94604	0.8261	M	0.89478	3.035	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95292	0.8396	10	0.87932	D	0	.	16.7898	0.85586	1.0:0.0:0.0:0.0	.	845	P15918	RAG1_HUMAN	Y	845	ENSP00000434610:N845Y;ENSP00000299440:N845Y	ENSP00000299440:N845Y	N	+	1	0	RAG1	36553963	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.962000	0.93254	2.364000	0.80123	0.524000	0.50904	AAC		0.473	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		17	59	0	0	0	1	0	17	59				
FAM135B	51059	broad.mit.edu	37	8	139165179	139165179	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:139165179C>T	ENST00000395297.1	-	13	1709	c.1539G>A	c.(1537-1539)gtG>gtA	p.V513V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	513								p.V513V(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATCTTCAGGCACACCTGCTT	0.458										HNSCC(54;0.14)																												ENST00000395297.1																			2	Substitution - coding silent(2)	p.V513V(2)	upper_aerodigestive_tract(2)	NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(1537-1539)gtG>gtA		family with sequence similarity 135, member B							137.0	131.0	133.0					8																	139165179		1958	4146	6104	SO:0001819	synonymous_variant	51059							g.chr8:139165179C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1539G>A	8.37:g.139165179C>T		HNSCC(54;0.14)					p.V513V	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1709	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		513					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.1539G>A	CCDS6375.2																																																																																				0.458	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		9	150	0	0	0	1	0	9	150				
CROCC	9696	broad.mit.edu	37	1	17275411	17275411	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:17275411G>T	ENST00000375541.5	+	19	2895	c.2826G>T	c.(2824-2826)gaG>gaT	p.E942D	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGGCCAAGGAGACCCTGACTG	0.667																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(2824-2826)gaG>gaT		ciliary rootlet coiled-coil, rootletin							20.0	23.0	22.0					1																	17275411		2194	4280	6474	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17275411G>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2826G>T	1.37:g.17275411G>T	ENSP00000364691:p.Glu942Asp					CROCC_ENST00000467938.1_Intron	p.E942D	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	19	2895	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	942						Missense_Mutation	SNP	ENST00000375541.5	37	c.2826G>T	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702592	0.48307	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.25085	1.82	4.54	1.55	0.23275	.	.	.	.	.	T	0.41994	0.1183	M	0.68952	2.095	0.43527	D	0.995801	D;D	0.67145	0.996;0.996	D;D	0.75484	0.986;0.986	T	0.11567	-1.0582	9	0.30078	T	0.28	.	8.3564	0.32333	0.2627:0.0:0.7373:0.0	.	245;942	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	D	942;823	ENSP00000364691:E942D	ENSP00000364691:E942D	E	+	3	2	CROCC	17147998	0.883000	0.30277	0.910000	0.35882	0.863000	0.49368	1.124000	0.31320	0.207000	0.20607	0.557000	0.71058	GAG		0.667	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		13	53	1	0	6.72482e-11	1	6.97693e-11	13	53				
DLX5	1749	broad.mit.edu	37	7	96650052	96650052	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:96650052T>C	ENST00000222598.4	-	3	1339	c.866A>G	c.(865-867)tAt>tGt	p.Y289C	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	289					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	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)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GCCCATCTAATAGAGTGTCCC	0.507																																						ENST00000222598.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20						c.(865-867)tAt>tGt		distal-less homeobox 5							40.0	47.0	45.0					7																	96650052		2203	4294	6497	SO:0001583	missense	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96650052T>C		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.866A>G	7.37:g.96650052T>C	ENSP00000222598:p.Tyr289Cys					DLX5_ENST00000493764.1_5'UTR	p.Y289C	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN			3	1339	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		289					B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	c.866A>G	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	T	17.15	3.315684	0.60524	.	.	ENSG00000105880	ENST00000222598	D	0.90900	-2.75	5.74	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.93782	0.8012	M	0.71581	2.175	0.52501	D	0.999959	D	0.89917	1.0	D	0.68192	0.956	D	0.94057	0.7323	10	0.87932	D	0	.	11.1805	0.48625	0.0:0.0713:0.0:0.9287	.	289	P56178	DLX5_HUMAN	C	289	ENSP00000222598:Y289C	ENSP00000222598:Y289C	Y	-	2	0	DLX5	96487988	1.000000	0.71417	0.998000	0.56505	0.920000	0.55202	5.858000	0.69532	2.190000	0.69967	0.496000	0.49642	TAT		0.507	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			12	63	0	0	0	1	0	12	63				
SLCO1B7	338821	broad.mit.edu	37	12	21242847	21242847	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:21242847C>G	ENST00000421593.2	+	13	1730	c.1730C>G	c.(1729-1731)gCc>gGc	p.A577G	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.A685G|RP11-125O5.2_ENST00000590779.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.A624G|LST3_ENST00000381541.3_Missense_Mutation_p.A624G|LST3_ENST00000540229.1_Missense_Mutation_p.A685G	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	577						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CACAGAAGAGCCTTCTTCGGC	0.294																																						ENST00000540229.1																			0											c.(2053-2055)gCc>gGc									51.0	51.0	51.0					12																	21242847		1817	4085	5902	SO:0001583	missense	0							g.chr12:21242847C>G	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1730C>G	12.37:g.21242847C>G	ENSP00000394168:p.Ala577Gly					LST3_ENST00000381541.3_Missense_Mutation_p.A624G|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.A577G|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.A624G|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.A685G|RP11-125O5.2_ENST00000590779.1_Intron	p.A685G							16	2119	+								Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.2054C>G	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	4.983	0.182580	0.09495	.	.	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593;ENST00000545916	T;T;T;T;T;T	0.74421	1.19;1.22;1.19;1.22;1.18;-0.84	2.57	-1.13	0.09775	.	1.905620	0.02356	N	0.076414	T	0.56731	0.2005	N	0.19112	0.55	0.09310	N	1	B;B;B	0.20261	0.009;0.005;0.043	B;B;B	0.19666	0.021;0.026;0.003	T	0.30736	-0.9968	10	0.27082	T	0.32	.	2.5043	0.04641	0.2425:0.4258:0.0:0.3317	.	577;624;685	G3V0H7;F5H094;Q5JAR4	.;.;.	G	685;624;685;624;577;86	ENSP00000451758:A685G;ENSP00000370952:A624G;ENSP00000441269:A685G;ENSP00000452013:A624G;ENSP00000394168:A577G;ENSP00000439857:A86G	ENSP00000370952:A624G	A	+	2	0	SLCO1B3;SLCO1B7;RP11-545J16.1	21134114	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.929000	0.03976	-0.262000	0.09392	-0.438000	0.05819	GCC		0.294	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		6	36	0	0	0	1	0	6	36				
ABCA2	20	broad.mit.edu	37	9	139905674	139905674	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:139905674A>G	ENST00000371605.3	-	37	6031	c.5884T>C	c.(5884-5886)Tac>Cac	p.Y1962H	ABCA2_ENST00000341511.6_Missense_Mutation_p.Y1963H|ABCA2_ENST00000265662.5_Missense_Mutation_p.Y1963H			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1962					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)		TACTCGTTGTAGGCCATCTCC	0.617																																						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.(5887-5889)Tac>Cac		ATP-binding cassette, sub-family A (ABC1), member 2							65.0	68.0	67.0					9																	139905674		1930	4129	6059	SO:0001583	missense	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.chr9:139905674A>G	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.5884T>C	9.37:g.139905674A>G	ENSP00000360666:p.Tyr1962His					ABCA2_ENST00000341511.6_Missense_Mutation_p.Y1963H|ABCA2_ENST00000371605.3_Missense_Mutation_p.Y1962H	p.Y1963H			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	38	6034	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1962					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.5887T>C		.	.	.	.	.	.	.	.	.	.	a	14.66	2.602698	0.46423	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.87966	-2.32;-2.32;-2.32	3.1	3.1	0.35709	.	0.156516	0.44097	U	0.000497	D	0.89935	0.6859	L	0.60455	1.87	0.44643	D	0.997622	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86615	0.1875	10	0.17369	T	0.5	.	11.1772	0.48606	1.0:0.0:0.0:0.0	.	1962;1993	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	H	1963;1962;1993;1963	ENSP00000265662:Y1963H;ENSP00000360666:Y1962H;ENSP00000344155:Y1963H	ENSP00000265662:Y1963H	Y	-	1	0	ABCA2	139025495	0.998000	0.40836	0.997000	0.53966	0.887000	0.51463	3.778000	0.55371	1.300000	0.44818	0.235000	0.17854	TAC		0.617	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		4	91	0	0	0	1	0	4	91				
POMGNT1	55624	broad.mit.edu	37	1	46662488	46662488	+	Missense_Mutation	SNP	C	C	T	rs139701867	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:46662488C>T	ENST00000371984.3	-	4	426	c.269G>A	c.(268-270)cGc>cAc	p.R90H	POMGNT1_ENST00000535522.1_Missense_Mutation_p.R68H|POMGNT1_ENST00000371992.1_Missense_Mutation_p.R90H|POMGNT1_ENST00000371986.3_Missense_Mutation_p.R90H|POMGNT1_ENST00000396420.3_Missense_Mutation_p.R90H	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	90					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					ACTGCCTCTGCGCCGTGGGGG	0.622																																						ENST00000396420.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(268-270)cGc>cAc		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)		C	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	74.0	77.0	76.0		269	2.9	1.0	1	dbSNP_134	76	0,8600		0,0,4300	yes	missense	POMGNT1	NM_017739.3	29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	90/661	46662488	4,13002	2203	4300	6503	SO:0001583	missense	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46662488C>T		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.269G>A	1.37:g.46662488C>T	ENSP00000361052:p.Arg90His					POMGNT1_ENST00000371986.3_Missense_Mutation_p.R90H|POMGNT1_ENST00000371992.1_Missense_Mutation_p.R90H|POMGNT1_ENST00000371984.3_Missense_Mutation_p.R90H|POMGNT1_ENST00000535522.1_Missense_Mutation_p.R68H	p.R90H			Q8WZA1	PMGT1_HUMAN			4	905	-	Acute lymphoblastic leukemia(166;0.155)		90					D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	c.269G>A	CCDS531.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443654	0.43429	9.08E-4	0.0	ENSG00000085998	ENST00000396420;ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;1.46;-1.08	4.83	2.92	0.33932	.	0.230391	0.43416	N	0.000562	T	0.63616	0.2526	L	0.36672	1.1	0.44477	D	0.99741	B;B;B;B	0.21381	0.003;0.055;0.0;0.004	B;B;B;B	0.12156	0.001;0.007;0.0;0.0	T	0.51140	-0.8743	10	0.14656	T	0.56	-8.0675	9.4808	0.38900	0.0:0.7454:0.0:0.2546	.	68;90;90;90	F5H827;Q68CV6;Q5VST3;Q8WZA1	.;.;.;PMGT1_HUMAN	H	90;90;90;68;90	ENSP00000379698:R90H;ENSP00000361052:R90H;ENSP00000361060:R90H;ENSP00000443767:R68H;ENSP00000361054:R90H	ENSP00000361052:R90H	R	-	2	0	POMGNT1	46435075	1.000000	0.71417	0.995000	0.50966	0.708000	0.40852	2.286000	0.43496	0.422000	0.26005	0.462000	0.41574	CGC		0.622	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		38	125	0	0	0	1	0	38	125				
C16orf58	64755	broad.mit.edu	37	16	31508199	31508199	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:31508199C>T	ENST00000327237.2	-	6	712	c.673G>A	c.(673-675)Gct>Act	p.A225T	C16orf58_ENST00000567994.1_Missense_Mutation_p.A180T|C16orf58_ENST00000430477.2_Missense_Mutation_p.A83T|C16orf58_ENST00000570164.1_Missense_Mutation_p.A225T			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	225						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						GACACGTCAGCCATGTTGTTC	0.642																																						ENST00000327237.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						c.(673-675)Gct>Act		chromosome 16 open reading frame 58							38.0	30.0	33.0					16																	31508199		2197	4300	6497	SO:0001583	missense	64755					integral to membrane		g.chr16:31508199C>T	AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.673G>A	16.37:g.31508199C>T	ENSP00000317579:p.Ala225Thr					C16orf58_ENST00000567994.1_Missense_Mutation_p.A180T|C16orf58_ENST00000570164.1_Missense_Mutation_p.A225T|C16orf58_ENST00000430477.2_Missense_Mutation_p.A83T	p.A225T			Q96GQ5	CP058_HUMAN			6	712	-			225					Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Missense_Mutation	SNP	ENST00000327237.2	37	c.673G>A	CCDS10715.1	.	.	.	.	.	.	.	.	.	.	C	37	5.979909	0.97168	.	.	ENSG00000140688	ENST00000327237;ENST00000452223;ENST00000430477	T;T	0.57595	0.39;0.39	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.80889	0.4710	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.98;0.999	D	0.85800	0.1373	10	0.87932	D	0	-18.8621	17.3922	0.87435	0.0:1.0:0.0:0.0	.	83;225	B4DJP2;Q96GQ5	.;CP058_HUMAN	T	225;179;83	ENSP00000317579:A225T;ENSP00000398074:A83T	ENSP00000317579:A225T	A	-	1	0	C16orf58	31415700	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.291000	0.78721	2.713000	0.92767	0.655000	0.94253	GCT		0.642	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255629.2	NM_022744		3	26	0	0	0	1	0	3	26				
THBS3	7059	broad.mit.edu	37	1	155172668	155172668	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:155172668A>G	ENST00000368378.3	-	8	912	c.892T>C	c.(892-894)Tac>Cac	p.Y298H	THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.Y178H|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000486260.1_5'UTR|THBS3_ENST00000541576.1_5'Flank|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	298					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCACAGCGGTAGCCTGGGTAC	0.617																																						ENST00000368378.3																			0				breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(892-894)Tac>Cac		thrombospondin 3							55.0	59.0	57.0					1																	155172668		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155172668A>G	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.892T>C	1.37:g.155172668A>G	ENSP00000357362:p.Tyr298His					RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000428962.2_Missense_Mutation_p.Y148H|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.Y178H|THBS3_ENST00000487250.1_5'UTR	p.Y298H	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		8	912	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		298			EGF-like 1.		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.892T>C	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.796965	0.90453	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000428962	T;T;T	0.51325	1.59;1.59;0.71	5.24	5.24	0.73138	Epidermal growth factor-like (1);	0.137769	0.50627	D	0.000115	T	0.40815	0.1132	M	0.66939	2.045	0.53688	D	0.999974	P;P;D;P	0.54397	0.944;0.944;0.966;0.944	P;P;P;P	0.45913	0.492;0.497;0.497;0.497	T	0.46119	-0.9214	10	0.52906	T	0.07	-25.3024	13.4093	0.60933	1.0:0.0:0.0:0.0	.	178;298;298;298	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	H	298;178;148	ENSP00000357362:Y298H;ENSP00000392207:Y178H;ENSP00000404040:Y148H	ENSP00000357362:Y298H	Y	-	1	0	THBS3	153439292	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.907000	0.69908	2.326000	0.78906	0.533000	0.62120	TAC		0.617	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		19	77	0	0	0	1	0	19	77				
SERPINF2	5345	broad.mit.edu	37	17	1648678	1648678	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:1648678T>C	ENST00000324015.3	+	4	231	c.154T>C	c.(154-156)Ttg>Ctg	p.L52L	SERPINF2_ENST00000450523.2_Silent_p.L52L|SERPINF2_ENST00000382061.4_Silent_p.L52L	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	52					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	CCTCCTCAAGTTGGGCAACCA	0.672																																						ENST00000324015.3																			0				breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(154-156)Ttg>Ctg		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	Streptokinase(DB00086)						39.0	36.0	37.0					17																	1648678		2203	4300	6503	SO:0001819	synonymous_variant	5345				acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr17:1648678T>C	D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"""Serine (or cysteine) peptidase inhibitors"""	9075	protein-coding gene	gene with protein product	"""alpha-2-plasmin inhibitor"", ""alpha-2-antiplasmin"""	613168	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"""	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.154T>C	17.37:g.1648678T>C						SERPINF2_ENST00000450523.2_Silent_p.L52L|SERPINF2_ENST00000382061.4_Silent_p.L52L	p.L52L	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	4	231	+			52					B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Silent	SNP	ENST00000324015.3	37	c.154T>C	CCDS11011.1																																																																																				0.672	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207078.3	NM_000934		25	63	0	0	0	1	0	25	63				
NUP153	9972	broad.mit.edu	37	6	17629211	17629211	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:17629211T>C	ENST00000262077.2	-	18	3218	c.3219A>G	c.(3217-3219)gaA>gaG	p.E1073E	NUP153_ENST00000537253.1_Silent_p.E1104E	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1073					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CAGGCATTTCTTCTTTTTTAG	0.468																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(3217-3219)gaA>gaG		nucleoporin 153kDa							85.0	78.0	81.0					6																	17629211		2203	4300	6503	SO:0001819	synonymous_variant	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17629211T>C	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.3219A>G	6.37:g.17629211T>C						NUP153_ENST00000537253.1_Silent_p.E1104E	p.E1073E	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		18	3218	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	1073					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	ENST00000262077.2	37	c.3219A>G	CCDS4541.1																																																																																				0.468	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			30	88	0	0	0	1	0	30	88				
TTN	7273	broad.mit.edu	37	2	179498630	179498630	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179498630T>C	ENST00000591111.1	-	181	37897	c.37673A>G	c.(37672-37674)gAa>gGa	p.E12558G	TTN_ENST00000342992.6_Missense_Mutation_p.E11631G|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E14199G|TTN_ENST00000359218.5_Missense_Mutation_p.E5259G|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E5326G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5134G|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12558	Ig-like 83.				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)			TTCTTTCATTTCCAATTTGTG	0.398																																						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.(42595-42597)gAa>gGa		titin							307.0	287.0	294.0					2																	179498630		1896	4134	6030	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179498630T>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.37673A>G	2.37:g.179498630T>C	ENSP00000465570:p.Glu12558Gly					TTN_ENST00000460472.2_Missense_Mutation_p.E5134G|TTN_ENST00000342992.6_Missense_Mutation_p.E11631G|TTN_ENST00000591111.1_Missense_Mutation_p.E12558G|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5259G|TTN_ENST00000342175.6_Missense_Mutation_p.E5326G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA	p.E14199G	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)		231	42820	-			12558			Fibronectin type-III 2.		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.42596A>G		.	.	.	.	.	.	.	.	.	.	T	14.01	2.408856	0.42715	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.93	5.93	0.95920	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80607	0.4655	M	0.80422	2.495	0.54753	D	0.999981	D;D;D;D	0.56968	0.978;0.978;0.978;0.978	P;P;P;P	0.58266	0.836;0.836;0.836;0.836	D	0.83494	0.0071	9	0.87932	D	0	.	16.3756	0.83387	0.0:0.0:0.0:1.0	.	5134;5259;5326;12558	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	11631;5134;5326;5259;5134	ENSP00000343764:E11631G;ENSP00000434586:E5134G;ENSP00000340554:E5326G;ENSP00000352154:E5259G	ENSP00000340554:E5326G	E	-	2	0	TTN	179206875	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.929000	0.87595	2.270000	0.75569	0.460000	0.39030	GAA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	236	0	0	0	1	0	9	236				
BAG1	573	broad.mit.edu	37	9	33255240	33255240	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:33255240T>C	ENST00000379704.2	-	7	1103	c.670A>G	c.(670-672)Aca>Gca	p.T224A	BAG1_ENST00000467389.2_5'UTR|BAG1_ENST00000472232.3_Missense_Mutation_p.T339A			Q99933	BAG1_HUMAN	BCL2-associated athanogene	339	Interaction with PPP1R15A.|Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|chaperone cofactor-dependent protein refolding (GO:0070389)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			GCAAAGTTTGTAGACTGCAGC	0.562																																					GBM(77;1066 1502 5858 12192)	ENST00000472232.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(1015-1017)Aca>Gca		BCL2-associated athanogene							108.0	103.0	104.0					9																	33255240		2203	4300	6503	SO:0001583	missense	573				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	g.chr9:33255240T>C	AF022224	CCDS35004.1, CCDS55301.1	9p12	2010-12-09			ENSG00000107262	ENSG00000107262			937	protein-coding gene	gene with protein product		601497				7834747	Standard	NM_004323		Approved		uc003zsj.3	Q99933	OTTHUMG00000019766	ENST00000379704.2:c.670A>G	9.37:g.33255240T>C	ENSP00000369026:p.Thr224Ala					BAG1_ENST00000467389.2_5'UTR|BAG1_ENST00000379704.2_Missense_Mutation_p.T224A	p.T339A	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314.5	Q99933	BAG1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		7	1101	-			339			Interaction with PPP1R15A.		O75315|Q14414|Q53H32|Q5VZE8|Q5VZE9|Q5VZF0|Q96TG2|Q9Y2V4	Missense_Mutation	SNP	ENST00000379704.2	37	c.1015A>G	CCDS55301.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.384092	0.42308	.	.	ENSG00000107262	ENST00000472232;ENST00000379704	.	.	.	4.88	3.74	0.42951	.	0.202558	0.51477	N	0.000100	T	0.36303	0.0962	N	0.19112	0.55	0.35780	D	0.821607	B;B	0.12630	0.005;0.006	B;B	0.19946	0.027;0.022	T	0.38866	-0.9641	9	0.56958	D	0.05	-2.517	9.0385	0.36302	0.0:0.088:0.0:0.912	.	268;339	Q99933-3;Q99933	.;BAG1_HUMAN	A	339;224	.	ENSP00000369026:T224A	T	-	1	0	BAG1	33245240	1.000000	0.71417	0.990000	0.47175	0.792000	0.44763	4.597000	0.61062	0.992000	0.38840	-0.290000	0.09829	ACA		0.562	BAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052042.3	NM_004323		39	111	0	0	0	1	0	39	111				
TXN	7295	broad.mit.edu	37	9	113006438	113006438	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:113006438T>C	ENST00000374517.5	-	5	521	c.317A>G	c.(316-318)tAa>tGa	p.*106*	TXN_ENST00000487892.1_5'UTR|TXN_ENST00000374515.5_Silent_p.*86*	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN	thioredoxin	0					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|glycerol ether metabolic process (GO:0006662)|innate immune response (GO:0045087)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oxidation-reduction process (GO:0055114)|positive regulation of DNA binding (GO:0043388)|regulation of protein import into nucleus, translocation (GO:0033158)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	peptide disulfide oxidoreductase activity (GO:0015037)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		AAAACATGATTAGACTAATTC	0.308																																						ENST00000374517.5																			0				kidney(1)|skin(1)	2						c.(316-318)tAa>tGa		thioredoxin							35.0	33.0	34.0					9																	113006438		2200	4295	6495	SO:0001819	synonymous_variant	7295				cell proliferation|cell-cell signaling|cellular component movement|electron transport chain|glycerol ether metabolic process|nucleobase, nucleoside and nucleotide interconversion|positive regulation of DNA binding|regulation of protein import into nucleus, translocation|response to radiation|signal transduction|transcription, DNA-dependent|transport	cytosol|extracellular region|nucleoplasm	electron carrier activity|protein binding|protein disulfide oxidoreductase activity	g.chr9:113006438T>C	X77584	CCDS35103.1, CCDS59139.1	9q31	2008-02-05			ENSG00000136810	ENSG00000136810			12435	protein-coding gene	gene with protein product		187700					Standard	NM_003329		Approved	TRX	uc004bep.2	P10599	OTTHUMG00000020480	ENST00000374517.5:c.317A>G	9.37:g.113006438T>C						TXN_ENST00000374515.5_Silent_p.*86*|TXN_ENST00000487892.1_5'UTR	p.*106*	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)	5	521	-			0					B1ALW1|O60744|Q53X69|Q96KI3|Q9UDG5	Silent	SNP	ENST00000374517.5	37	c.317A>G	CCDS35103.1																																																																																				0.308	TXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053614.1			4	19	0	0	0	1	0	4	19				
POU6F2	11281	broad.mit.edu	37	7	39500223	39500223	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:39500223C>T	ENST00000403058.1	+	10	1634	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	POU6F2_ENST00000518318.2_Missense_Mutation_p.R494W|POU6F2_ENST00000559001.1_Missense_Mutation_p.R439W	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	494	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTTAAAATCCGGCGCCTGTC	0.552																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1480-1482)Cgg>Tgg		POU class 6 homeobox 2							45.0	40.0	42.0					7																	39500223		2203	4300	6503	SO:0001583	missense	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39500223C>T	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1480C>T	7.37:g.39500223C>T	ENSP00000384004:p.Arg494Trp					POU6F2_ENST00000559001.1_Missense_Mutation_p.R439W|POU6F2_ENST00000403058.1_Missense_Mutation_p.R494W	p.R494W			P78424	PO6F2_HUMAN			9	1522	+			494			POU-specific.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	c.1480C>T	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592610	0.66219	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	D;D	0.86956	-2.19;-2.19	5.48	5.48	0.80851	POU-specific (4);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94877	0.8035	10	0.87932	D	0	.	19.3555	0.94410	0.0:1.0:0.0:0.0	.	494	P78424	PO6F2_HUMAN	W	494	ENSP00000384004:R494W;ENSP00000430514:R494W	ENSP00000384004:R494W	R	+	1	2	POU6F2	39466748	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.805000	0.86005	2.572000	0.86782	0.511000	0.50034	CGG		0.552	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		3	19	0	0	0	1	0	3	19				
SYNE1	23345	broad.mit.edu	37	6	152683313	152683313	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:152683313T>C	ENST00000367255.5	-	64	10892	c.10291A>G	c.(10291-10293)Aaa>Gaa	p.K3431E	SYNE1_ENST00000265368.4_Missense_Mutation_p.K3431E|SYNE1_ENST00000341594.5_Missense_Mutation_p.K3450E|SYNE1_ENST00000448038.1_Missense_Mutation_p.K3438E|SYNE1_ENST00000423061.1_Missense_Mutation_p.K3438E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3431					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCTTGGCTTTTCCGAGCATC	0.478										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(10291-10293)Aaa>Gaa		spectrin repeat containing, nuclear envelope 1							118.0	105.0	109.0					6																	152683313		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152683313T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10291A>G	6.37:g.152683313T>C	ENSP00000356224:p.Lys3431Glu	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.K3438E|SYNE1_ENST00000448038.1_Missense_Mutation_p.K3438E|SYNE1_ENST00000265368.4_Missense_Mutation_p.K3431E|SYNE1_ENST00000341594.5_Missense_Mutation_p.K3450E	p.K3431E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	64	10892	-		Ovarian(120;0.0955)	3431					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.10291A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	17.21	3.332399	0.60853	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.50813	1.15;1.15;1.15;1.15;0.73	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000007	T	0.53948	0.1828	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	D;D;D;D	0.74348	0.962;0.962;0.962;0.983	T	0.54827	-0.8235	10	0.10902	T	0.67	.	15.8384	0.78818	0.0:0.0:0.0:1.0	.	3431;3431;3431;3438	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	E	3431;3438;3431;3438;3450	ENSP00000356224:K3431E;ENSP00000396024:K3438E;ENSP00000265368:K3431E;ENSP00000390975:K3438E;ENSP00000341887:K3450E	ENSP00000265368:K3431E	K	-	1	0	SYNE1	152725006	1.000000	0.71417	0.958000	0.39756	0.603000	0.37013	7.476000	0.81055	2.191000	0.70037	0.533000	0.62120	AAA		0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		5	79	0	0	0	1	0	5	79				
KCTD4	386618	broad.mit.edu	37	13	45768564	45768564	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:45768564G>C	ENST00000379108.1	-	1	288	c.139C>G	c.(139-141)Caa>Gaa	p.Q47E	KCTD4_ENST00000405872.1_Missense_Mutation_p.Q47E|GTF2F2_ENST00000340473.6_Intron			Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	47	BTB.				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)		GTTTGTTTTTGAGTAATGTAT	0.398																																						ENST00000405872.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						c.(139-141)Caa>Gaa		potassium channel tetramerization domain containing 4							293.0	285.0	288.0					13																	45768564		2203	4300	6503	SO:0001583	missense	386618					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr13:45768564G>C	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.139C>G	13.37:g.45768564G>C	ENSP00000368402:p.Gln47Glu					KCTD4_ENST00000379108.1_Missense_Mutation_p.Q47E|GTF2F2_ENST00000340473.6_Intron	p.Q47E	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	542	-		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	47			BTB.		Q5W0P9	Missense_Mutation	SNP	ENST00000379108.1	37	c.139C>G	CCDS9396.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.706467	0.30232	.	.	ENSG00000180332	ENST00000379108;ENST00000405872	T;T	0.42131	0.98;0.98	5.8	5.8	0.92144	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.058348	0.64402	D	0.000001	T	0.42607	0.1210	L	0.41710	1.295	0.58432	D	0.999996	B	0.30870	0.298	B	0.35470	0.203	T	0.32025	-0.9922	10	0.59425	D	0.04	.	19.0474	0.93027	0.0:0.0:1.0:0.0	.	47	Q8WVF5	KCTD4_HUMAN	E	47	ENSP00000368402:Q47E;ENSP00000385144:Q47E	ENSP00000368402:Q47E	Q	-	1	0	KCTD4	44666564	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	6.694000	0.74587	2.749000	0.94314	0.585000	0.79938	CAA		0.398	KCTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044757.1			60	179	0	0	0	1	0	60	179				
KNTC1	9735	broad.mit.edu	37	12	123089855	123089855	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:123089855A>G	ENST00000333479.7	+	51	5566	c.5389A>G	c.(5389-5391)Att>Gtt	p.I1797V	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Missense_Mutation_p.I222V	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1797					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TATCTTAGATATTCATGCAGC	0.289																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(5389-5391)Att>Gtt		kinetochore associated 1							38.0	36.0	37.0					12																	123089855		1792	4063	5855	SO:0001583	missense	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123089855A>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5389A>G	12.37:g.123089855A>G	ENSP00000328236:p.Ile1797Val					KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Missense_Mutation_p.I222V|KNTC1_ENST00000450485.2_Intron	p.I1797V	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	51	5566	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1797					A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	c.5389A>G	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993782	0.74703	.	.	ENSG00000184445	ENST00000333479;ENST00000537348	T;T	0.37235	1.21;1.21	5.56	5.56	0.83823	RZZ complex, subunit KNTC1/ROD, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45836	0.1362	M	0.71581	2.175	0.54753	D	0.999984	P	0.49447	0.924	P	0.50617	0.646	T	0.46359	-0.9197	10	0.46703	T	0.11	-21.5969	8.6871	0.34245	0.8815:0.0:0.1185:0.0	.	1797	P50748	KNTC1_HUMAN	V	1797;222	ENSP00000328236:I1797V;ENSP00000443622:I222V	ENSP00000328236:I1797V	I	+	1	0	KNTC1	121655808	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.521000	0.67086	2.118000	0.64928	0.482000	0.46254	ATT		0.289	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			5	15	0	0	0	1	0	5	15				
HP	3240	broad.mit.edu	37	16	72093018	72093018	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:72093018T>C	ENST00000355906.5	+	6	431	c.373T>C	c.(373-375)Tac>Cac	p.Y125H	HPR_ENST00000356967.5_Intron|HP_ENST00000565574.1_Intron|HP_ENST00000562526.1_Missense_Mutation_p.Y66H|HP_ENST00000357763.4_Missense_Mutation_p.Y161H|HP_ENST00000569639.1_Missense_Mutation_p.Y66H|HP_ENST00000398131.2_Missense_Mutation_p.Y66H|HP_ENST00000570083.1_Missense_Mutation_p.Y66H	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	125	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TTCAGGAGTGTACACCTTAAA	0.443																																						ENST00000355906.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7						c.(373-375)Tac>Cac		haptoglobin							119.0	126.0	124.0					16																	72093018		1736	4054	5790	SO:0001583	missense	3240				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72093018T>C		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.373T>C	16.37:g.72093018T>C	ENSP00000348170:p.Tyr125His					HP_ENST00000570083.1_Missense_Mutation_p.Y66H|HP_ENST00000569639.1_Missense_Mutation_p.Y66H|HPR_ENST00000356967.5_Intron|HP_ENST00000398131.2_Missense_Mutation_p.Y66H|HP_ENST00000565574.1_Intron|HP_ENST00000562526.1_Missense_Mutation_p.Y66H	p.Y125H	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	6	431	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	125			Sushi 2.		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Missense_Mutation	SNP	ENST00000355906.5	37	c.373T>C	CCDS45524.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.723348	0.30503	.	.	ENSG00000257017	ENST00000355906;ENST00000398131	T;T	0.49720	0.77;0.77	4.24	4.24	0.50183	Complement control module (2);Sushi/SCR/CCP (2);	0.201353	0.34362	N	0.004037	T	0.61451	0.2348	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.64373	-0.6423	10	0.87932	D	0	.	9.8991	0.41338	0.0:0.0:0.0:1.0	.	125	P00738	HPT_HUMAN	H	125;66	ENSP00000348170:Y125H;ENSP00000381199:Y66H	ENSP00000348170:Y125H	Y	+	1	0	HP	70650519	1.000000	0.71417	0.929000	0.37066	0.929000	0.56500	3.335000	0.52105	1.902000	0.55061	0.482000	0.46254	TAC		0.443	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	NM_005143		16	63	0	0	0	1	0	16	63				
FAM86EP	348926	broad.mit.edu	37	4	3949808	3949808	+	RNA	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:3949808C>T	ENST00000313946.8	-	0	294				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		CCCTGCGCCCCGAGGTCACCT	0.637																																						ENST00000281228.8																			0																																																			0							g.chr4:3949808C>T			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3949808C>T						FAM86EP_ENST00000313946.8_RNA								0	475	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.637	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			14	59	0	0	0	1	0	14	59				
ZNF524	147807	broad.mit.edu	37	19	56113819	56113819	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:56113819A>G	ENST00000591046.1	+	1	575	c.341A>G	c.(340-342)cAc>cGc	p.H114R	FIZ1_ENST00000592585.1_5'Flank|ZNF524_ENST00000301073.3_Missense_Mutation_p.H114R|FIZ1_ENST00000221665.3_5'Flank|ZNF865_ENST00000568956.1_5'Flank			Q96C55	ZN524_HUMAN	zinc finger protein 524	114					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)		AAGGCCCCACACTTCTGCCCG	0.647																																						ENST00000591046.1																			0				breast(1)|large_intestine(2)|lung(6)|prostate(1)	10						c.(340-342)cAc>cGc		zinc finger protein 524							13.0	14.0	13.0					19																	56113819		2194	4297	6491	SO:0001583	missense	147807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56113819A>G	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.341A>G	19.37:g.56113819A>G	ENSP00000466907:p.His114Arg					ZNF524_ENST00000301073.3_Missense_Mutation_p.H114R	p.H114R			Q96C55	ZN524_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	1	575	+			114					Q6NW31|Q96IL7	Missense_Mutation	SNP	ENST00000591046.1	37	c.341A>G	CCDS12929.1	.	.	.	.	.	.	.	.	.	.	A	11.55	1.672463	0.29693	.	.	ENSG00000171443	ENST00000301073	T	0.05649	3.41	3.28	2.25	0.28309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04543	0.0124	N	0.14661	0.345	0.31227	N	0.696817	D	0.54601	0.967	B	0.44044	0.439	T	0.29305	-1.0016	9	0.87932	D	0	.	6.4768	0.22041	0.8801:0.0:0.1199:0.0	.	114	Q96C55	ZN524_HUMAN	R	114	ENSP00000301073:H114R	ENSP00000301073:H114R	H	+	2	0	ZNF524	60805631	0.003000	0.15002	0.968000	0.41197	0.192000	0.23643	1.995000	0.40767	0.459000	0.27016	0.459000	0.35465	CAC		0.647	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457938.1	NM_153219		7	17	0	0	0	1	0	7	17				
SLC22A15	55356	broad.mit.edu	37	1	116574133	116574133	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:116574133C>T	ENST00000369503.4	+	6	1005	c.875C>T	c.(874-876)aCt>aTt	p.T292I	SLC22A15_ENST00000369502.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	292					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGCAGGGAGACTGGAAGTTTC	0.498																																						ENST00000369503.4																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(874-876)aCt>aTt		solute carrier family 22, member 15							141.0	143.0	142.0					1																	116574133		1948	4144	6092	SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116574133C>T	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.875C>T	1.37:g.116574133C>T	ENSP00000358515:p.Thr292Ile					SLC22A15_ENST00000369502.1_3'UTR	p.T292I	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	6	1005	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	292					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	c.875C>T	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124443	0.37533	.	.	ENSG00000163393	ENST00000369503	T	0.74842	-0.88	4.91	4.91	0.64330	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.327220	0.29253	N	0.012693	T	0.62392	0.2424	L	0.55213	1.73	0.80722	D	1	B	0.14438	0.01	B	0.19946	0.027	T	0.64179	-0.6468	10	0.56958	D	0.05	.	16.4627	0.84069	0.0:1.0:0.0:0.0	.	292	Q8IZD6	S22AF_HUMAN	I	292	ENSP00000358515:T292I	ENSP00000358515:T292I	T	+	2	0	SLC22A15	116375656	0.991000	0.36638	0.087000	0.20705	0.437000	0.31866	3.766000	0.55280	2.556000	0.86216	0.655000	0.94253	ACT		0.498	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		4	128	0	0	0	1	0	4	128				
POLR2M	81488	broad.mit.edu	37	15	58004192	58004192	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:58004192C>T	ENST00000299638.3	+	3	983	c.769C>T	c.(769-771)Cga>Tga	p.R257*	POLR2M_ENST00000380563.2_Nonsense_Mutation_p.R257*|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.R439*|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.R654*|GCOM1_ENST00000484300.1_3'UTR|POLR2M_ENST00000380557.4_Nonsense_Mutation_p.R100*|GCOM1_ENST00000380568.3_Intron	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	257					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)										GTTACCTTTTCGACAAAATGA	0.398																																						ENST00000299638.3																			0											c.(769-771)Cga>Tga		polymerase (RNA) II (DNA directed) polypeptide M							60.0	58.0	59.0					15																	58004192		2192	4292	6484	SO:0001587	stop_gained	81488							g.chr15:58004192C>T	AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"""RNA polymerase subunits"""	14862	protein-coding gene	gene with protein product		606485	"""glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"""	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000299638.3:c.769C>T	15.37:g.58004192C>T	ENSP00000299638:p.Arg257*					GCOM1_ENST00000484300.1_3'UTR|POLR2M_ENST00000380557.4_Nonsense_Mutation_p.R100*|POLR2M_ENST00000380563.2_Nonsense_Mutation_p.R257*|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.R654*|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.R439*	p.R257*	NM_015532.3	NP_056347.1					3	983	+								Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	Nonsense_Mutation	SNP	ENST00000299638.3	37	c.769C>T	CCDS32252.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936092	0.92458	.	.	ENSG00000137878;ENSG00000255529;ENSG00000255529;ENSG00000255529	ENST00000380569;ENST00000380563;ENST00000299638;ENST00000380557	.	.	.	4.85	2.8	0.32819	.	2.099730	0.01962	N	0.043455	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-0.0062	11.0064	0.47637	0.0:0.6335:0.3665:0.0	.	.	.	.	X	439;257;257;100	.	ENSP00000369943:R439X	R	+	1	2	GCOM1;GRINL1A	55791484	0.001000	0.12720	0.004000	0.12327	0.043000	0.13939	0.898000	0.28404	1.376000	0.46267	0.655000	0.94253	CGA		0.398	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255719.2			16	50	0	0	0	1	0	16	50				
EXPH5	23086	broad.mit.edu	37	11	108381121	108381121	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:108381121T>C	ENST00000265843.4	-	6	5223	c.5113A>G	c.(5113-5115)Aac>Gac	p.N1705D	EXPH5_ENST00000443411.1_Missense_Mutation_p.N1517D|EXPH5_ENST00000525344.1_Missense_Mutation_p.N1698D|EXPH5_ENST00000428840.1_Missense_Mutation_p.N1629D	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1705					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCTGAGACGTTTTTAAACTCA	0.433																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(5113-5115)Aac>Gac		exophilin 5							180.0	175.0	177.0					11																	108381121		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108381121T>C		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5113A>G	11.37:g.108381121T>C	ENSP00000265843:p.Asn1705Asp					EXPH5_ENST00000428840.1_Missense_Mutation_p.N1629D|EXPH5_ENST00000443411.1_Missense_Mutation_p.N1517D|EXPH5_ENST00000525344.1_Missense_Mutation_p.N1698D	p.N1705D	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	5223	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1705					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.5113A>G	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550637	0.27739	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312	T;T;T;T;T	0.03689	4.07;3.99;3.84;4.07;3.89	5.9	0.995	0.19838	.	0.655121	0.15420	N	0.263265	T	0.04318	0.0119	L	0.60455	1.87	0.09310	N	1	P	0.46142	0.873	B	0.42361	0.385	T	0.39231	-0.9624	10	0.20046	T	0.44	-3.4569	5.046	0.14485	0.0:0.2242:0.1439:0.6319	.	1705	Q8NEV8	EXPH5_HUMAN	D	1705;1629;1517;1698;1629	ENSP00000265843:N1705D;ENSP00000391966:N1629D;ENSP00000411390:N1517D;ENSP00000432546:N1698D;ENSP00000432683:N1629D	ENSP00000265843:N1705D	N	-	1	0	EXPH5	107886331	0.001000	0.12720	0.000000	0.03702	0.033000	0.12548	0.837000	0.27558	-0.068000	0.12953	0.459000	0.35465	AAC		0.433	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		20	183	0	0	0	1	0	20	183				
PCDHB10	56126	broad.mit.edu	37	5	140573530	140573530	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140573530C>T	ENST00000239446.4	+	1	1589	c.1405C>T	c.(1405-1407)Cac>Tac	p.H469Y		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	469	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCGCCCTGCACATCGGCAG	0.652																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1405-1407)Cac>Tac									36.0	44.0	42.0					5																	140573530		2201	4277	6478	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573530C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1405C>T	5.37:g.140573530C>T	ENSP00000239446:p.His469Tyr						p.H469Y	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1589	+			469			Cadherin 5.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1405C>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	c	13.02	2.111713	0.37242	.	.	ENSG00000120324	ENST00000239446	T	0.01725	4.67	3.22	3.22	0.36961	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.03095	0.0091	N	0.11789	0.175	0.09310	N	1	D	0.63880	0.993	D	0.67548	0.952	T	0.51663	-0.8677	9	0.72032	D	0.01	.	6.9103	0.24331	0.0:0.7827:0.0:0.2173	.	469	Q9UN67	PCDBA_HUMAN	Y	469	ENSP00000239446:H469Y	ENSP00000239446:H469Y	H	+	1	0	PCDHB10	140553714	0.000000	0.05858	1.000000	0.80357	0.930000	0.56654	0.361000	0.20267	1.819000	0.53055	0.549000	0.68633	CAC		0.652	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		71	349	0	0	0	1	0	71	349				
MTMR3	8897	broad.mit.edu	37	22	30408420	30408420	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:30408420G>A	ENST00000401950.2	+	13	1527	c.1185G>A	c.(1183-1185)gcG>gcA	p.A395A	MTMR3_ENST00000351488.3_Silent_p.A395A|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Silent_p.A259A|MTMR3_ENST00000333027.3_Silent_p.A395A|MTMR3_ENST00000406629.1_Silent_p.A395A	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	395	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGAAATCAGCGCTTCTGGTAG	0.493																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(1183-1185)gcG>gcA		myotubularin related protein 3							196.0	190.0	192.0					22																	30408420		2203	4300	6503	SO:0001819	synonymous_variant	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30408420G>A	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1185G>A	22.37:g.30408420G>A						MTMR3_ENST00000323630.5_Silent_p.A259A|MTMR3_ENST00000406629.1_Silent_p.A395A|MTMR3_ENST00000401950.2_Silent_p.A395A|MTMR3_ENST00000351488.3_Silent_p.A395A|CTA-85E5.10_ENST00000429350.1_RNA	p.A395A	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		13	1513	+			395			Myotubularin phosphatase.		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	c.1185G>A	CCDS13870.1																																																																																				0.493	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		94	239	0	0	0	1	0	94	239				
HERC3	8916	broad.mit.edu	37	4	89589132	89589132	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:89589132T>C	ENST00000402738.1	+	14	1772	c.1533T>C	c.(1531-1533)ccT>ccC	p.P511P	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Silent_p.P511P	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	511					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TAATACTACCTGAGTTTCCCC	0.418																																						ENST00000402738.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45						c.(1531-1533)ccT>ccC		HECT and RLD domain containing E3 ubiquitin protein ligase 3							142.0	141.0	141.0					4																	89589132		2203	4300	6503	SO:0001819	synonymous_variant	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89589132T>C	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.1533T>C	4.37:g.89589132T>C						HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Silent_p.P511P	p.P511P	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	14	1772	+			511					A8K1S5|Q8IXX3	Silent	SNP	ENST00000402738.1	37	c.1533T>C	CCDS34028.1																																																																																				0.418	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		39	116	0	0	0	1	0	39	116				
MUC16	94025	broad.mit.edu	37	19	9088668	9088668	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:9088668T>C	ENST00000397910.4	-	1	3350	c.3147A>G	c.(3145-3147)gaA>gaG	p.E1049E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1049	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAATCTTCCTTCAGTAATGT	0.468																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(3145-3147)gaA>gaG		mucin 16, cell surface associated							112.0	108.0	109.0					19																	9088668		1969	4170	6139	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088668T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3147A>G	19.37:g.9088668T>C							p.E1049E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	3350	-			1049			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.3147A>G	CCDS54212.1																																																																																				0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		28	105	0	0	0	1	0	28	105				
EPPK1	83481	broad.mit.edu	37	8	144940348	144940348	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:144940348G>A	ENST00000525985.1	-	2	7145	c.7074C>T	c.(7072-7074)ccC>ccT	p.P2358P				P58107	EPIPL_HUMAN	epiplakin 1	2358						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCACGTCCACGGGCACGCGGT	0.692																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7072-7074)ccC>ccT		epiplakin 1							199.0	193.0	195.0					8																	144940348		2171	4243	6414	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940348G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7074C>T	8.37:g.144940348G>A							p.P2358P			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	7145	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2358					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.7074C>T																																																																																					0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		35	767	0	0	0	1	0	35	767				
SLC12A5	57468	broad.mit.edu	37	20	44673611	44673611	+	Silent	SNP	C	C	T	rs545847050	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:44673611C>T	ENST00000454036.2	+	12	1519	c.1470C>T	c.(1468-1470)ggC>ggT	p.G490G	SLC12A5_ENST00000243964.3_Silent_p.G467G	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	490					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.G467G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGGTTTGGCGAAGCTGTGA	0.567													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20548	0.001		0.0	False		,,,				2504	0.0					ENST00000454036.1																			1	Substitution - coding silent(1)	p.G467G(1)	endometrium(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1468-1470)ggC>ggT		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						162.0	148.0	153.0					20																	44673611		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44673611C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1470C>T	20.37:g.44673611C>T						SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Silent_p.G467G	p.G490G	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			12	1546	+		Myeloproliferative disorder(115;0.0122)	490					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.1470C>T	CCDS46610.1																																																																																				0.567	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			45	167	0	0	0	1	0	45	167				
USP54	159195	broad.mit.edu	37	10	75277428	75277428	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:75277428G>A	ENST00000339859.4	-	19	2856	c.2756C>T	c.(2755-2757)gCc>gTc	p.A919V	RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.A101V|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.A769V|USP54_ENST00000394811.2_Missense_Mutation_p.A7V|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.A919V|RP11-137L10.6_ENST00000597958.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	919					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GAAAGAACTGGCCCCAAACTC	0.517																																					Colon(195;880 2046 8854 25025 38456)	ENST00000339859.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30						c.(2755-2757)gCc>gTc		ubiquitin specific peptidase 54							53.0	54.0	53.0					10																	75277428		2203	4300	6503	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75277428G>A	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2756C>T	10.37:g.75277428G>A	ENSP00000345216:p.Ala919Val					USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.A769V|USP54_ENST00000422491.2_Missense_Mutation_p.A101V|USP54_ENST00000408019.1_Missense_Mutation_p.A919V|USP54_ENST00000394811.2_Missense_Mutation_p.A7V|RP11-137L10.6_ENST00000595069.1_RNA	p.A919V			Q70EL1	UBP54_HUMAN			19	2856	-	Prostate(51;0.0112)		919					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.2756C>T	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729499	0.69074	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.28666	1.85;1.85;1.84;1.6;1.8	5.78	5.78	0.91487	.	0.721681	0.12355	U	0.476180	T	0.42966	0.1226	L	0.50333	1.59	0.80722	D	1	P;P	0.45531	0.86;0.666	P;B	0.47075	0.536;0.141	T	0.31668	-0.9935	10	0.59425	D	0.04	-0.7582	20.0118	0.97458	0.0:0.0:1.0:0.0	.	101;919	E7EW90;Q70EL1	.;UBP54_HUMAN	V	919;919;769;7;101	ENSP00000345216:A919V;ENSP00000386080:A919V;ENSP00000408714:A769V;ENSP00000378290:A7V;ENSP00000407368:A101V	ENSP00000345216:A919V	A	-	2	0	USP54	74947434	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	6.373000	0.73128	2.742000	0.94016	0.650000	0.86243	GCC		0.517	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		24	54	0	0	0	1	0	24	54				
ABAT	18	broad.mit.edu	37	16	8829566	8829566	+	5'UTR	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:8829566C>T	ENST00000396600.2	+	0	908				ABAT_ENST00000569156.1_5'UTR|ABAT_ENST00000425191.2_5'UTR|ABAT_ENST00000268251.8_5'UTR|ABAT_ENST00000567812.1_Silent_p.H5H	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase						behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GGTGGCAGCACGCAAAGGGTG	0.597																																						ENST00000567812.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26						c.(13-15)caC>caT		4-aminobutyrate aminotransferase	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						28.0	21.0	24.0					16																	8829566		2195	4298	6493	SO:0001623	5_prime_UTR_variant	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8829566C>T	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.-31C>T	16.37:g.8829566C>T						ABAT_ENST00000268251.8_5'UTR|ABAT_ENST00000396600.2_5'UTR|ABAT_ENST00000425191.2_5'UTR|ABAT_ENST00000569156.1_5'UTR	p.H5H			P80404	GABT_HUMAN			2	277	+			0					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Silent	SNP	ENST00000396600.2	37	c.15C>T	CCDS10534.1																																																																																				0.597	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		3	5	0	0	0	1	0	3	5				
CD5L	922	broad.mit.edu	37	1	157804402	157804402	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:157804402G>A	ENST00000368174.4	-	4	609	c.513C>T	c.(511-513)gcC>gcT	p.A171A	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	171	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCACCTTTGCGGCCCGGAGGC	0.612																																						ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(511-513)gcC>gcT		CD5 molecule-like							85.0	83.0	84.0					1																	157804402		2203	4300	6503	SO:0001819	synonymous_variant	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804402G>A	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.513C>T	1.37:g.157804402G>A							p.A171A	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	609	-	all_hematologic(112;0.0378)		171			SRCR 2.		A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	37	c.513C>T	CCDS1171.1																																																																																				0.612	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		35	133	0	0	0	1	0	35	133				
CSGALNACT1	55790	broad.mit.edu	37	8	19316155	19316155	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:19316155T>C	ENST00000454498.2	-	5	1648		c.e5-2		CSGALNACT1_ENST00000332246.6_Splice_Site|CSGALNACT1_ENST00000522854.1_Splice_Site|CSGALNACT1_ENST00000311540.4_Splice_Site|CSGALNACT1_ENST00000544602.1_Splice_Site|CSGALNACT1_ENST00000518542.1_Splice_Site	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1						anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GGTAGATCCCTGTTAAGAGAA	0.398																																						ENST00000454498.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.e5-2		chondroitin sulfate N-acetylgalactosaminyltransferase 1							169.0	162.0	164.0					8																	19316155		2203	4300	6503	SO:0001630	splice_region_variant	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19316155T>C	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.635-2A>G	8.37:g.19316155T>C						CSGALNACT1_ENST00000332246.6_Splice_Site|CSGALNACT1_ENST00000311540.4_Splice_Site|CSGALNACT1_ENST00000518542.1_Splice_Site|CSGALNACT1_ENST00000522854.1_Splice_Site|CSGALNACT1_ENST00000544602.1_Splice_Site		NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	5	1648	-								B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Splice_Site	SNP	ENST00000454498.2	37		CCDS6010.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.877322	0.72294	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2208	0.73310	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSGALNACT1	19360435	1.000000	0.71417	0.995000	0.50966	0.799000	0.45148	7.622000	0.83099	2.333000	0.79357	0.533000	0.62120	.		0.398	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371	Intron	50	148	0	0	0	1	0	50	148				
KIAA1244	57221	broad.mit.edu	37	6	138584602	138584602	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:138584602A>G	ENST00000251691.4	+	12	2148	c.1982A>G	c.(1981-1983)aAa>aGa	p.K661R		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGTCTCTAAAACTGCTGAAG	0.592																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(1981-1983)aAa>aGa		KIAA1244							51.0	57.0	55.0					6																	138584602		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138584602A>G	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1982A>G	6.37:g.138584602A>G	ENSP00000251691:p.Lys661Arg						p.K661R	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	12	2148	+	Breast(32;0.135)		661			SEC7.			Missense_Mutation	SNP	ENST00000251691.4	37	c.1982A>G	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	A	11.08	1.533194	0.27387	.	.	ENSG00000112379	ENST00000251691	T	0.19669	2.13	5.47	4.3	0.51218	SEC7-like (1);	7779.870000	0.00166	N	0.000000	T	0.07728	0.0194	L	0.31294	0.92	0.32306	N	0.564346	B	0.15141	0.012	B	0.11329	0.006	T	0.08743	-1.0707	10	0.27785	T	0.31	-25.9675	11.392	0.49820	0.9287:0.0:0.0713:0.0	.	661	Q5TH69	BIG3_HUMAN	R	661	ENSP00000251691:K661R	ENSP00000251691:K661R	K	+	2	0	KIAA1244	138626295	1.000000	0.71417	0.032000	0.17829	0.755000	0.42902	5.922000	0.70036	0.903000	0.36546	0.533000	0.62120	AAA		0.592	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		20	80	0	0	0	1	0	20	80				
IGHV1-69	28461	broad.mit.edu	37	14	107170193	107170193	+	RNA	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:107170193A>G	ENST00000390633.2	-	0	149									immunoglobulin heavy variable 1-69																		AGGCTTCTTCACCTCAGCCCC	0.577																																						ENST00000390633.2																			0																				114.0	88.0	96.0					14																	107170193		1943	4149	6092			28461							g.chr14:107170193A>G	L22582		14q32.33	2012-02-10			ENSG00000211973	ENSG00000211973		"""Immunoglobulins / IGH locus"""	5558	other	immunoglobulin gene				IGHV1-E		8469934	Standard	NG_001019		Approved				OTTHUMG00000151862		14.37:g.107170193A>G														0	149	-									RNA	SNP	ENST00000390633.2	37																																																																																						0.577	IGHV1-69-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324207.1	NG_001019		14	215	0	0	0	1	0	14	215				
ZCCHC7	84186	broad.mit.edu	37	9	37126525	37126525	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:37126525A>G	ENST00000336755.5	+	2	302	c.196A>G	c.(196-198)Agt>Ggt	p.S66G	ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.S65G|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	66						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		GGAATCTTCGAGTAGTAAACC	0.418																																						ENST00000336755.5																			0				central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30						c.(196-198)Agt>Ggt		zinc finger, CCHC domain containing 7							147.0	144.0	145.0					9																	37126525		2203	4300	6503	SO:0001583	missense	84186						nucleic acid binding|zinc ion binding	g.chr9:37126525A>G	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.196A>G	9.37:g.37126525A>G	ENSP00000337839:p.Ser66Gly					ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.S65G|ZCCHC7_ENST00000534928.1_Intron	p.S66G	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	2	302	+			66					B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Missense_Mutation	SNP	ENST00000336755.5	37	c.196A>G	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	A	1.490	-0.554999	0.03967	.	.	ENSG00000147905	ENST00000336755;ENST00000322831	T;T	0.47177	1.43;0.85	5.37	3.03	0.35002	.	0.950383	0.08948	N	0.870534	T	0.36717	0.0977	L	0.41236	1.265	0.09310	N	0.999992	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.25572	-1.0128	10	0.20519	T	0.43	-20.1276	7.719	0.28721	0.7672:0.0:0.2328:0.0	.	66;66	Q8N3Z6-2;Q8N3Z6	.;ZCHC7_HUMAN	G	66;65	ENSP00000337839:S66G;ENSP00000316365:S65G	ENSP00000316365:S65G	S	+	1	0	ZCCHC7	37116525	0.935000	0.31712	0.030000	0.17652	0.027000	0.11550	2.692000	0.47018	0.978000	0.38470	0.519000	0.50382	AGT		0.418	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		7	239	0	0	0	1	0	7	239				
ZNF2	7549	broad.mit.edu	37	2	95847619	95847619	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:95847619A>G	ENST00000340539.5	+	5	1508	c.1046A>G	c.(1045-1047)aAa>aGa	p.K349R	ZNF2_ENST00000425369.1_Missense_Mutation_p.K269R|ZNF2_ENST00000453539.2_Missense_Mutation_p.K362R|ZNF2_ENST00000295210.6_Missense_Mutation_p.K311R|ZNF2_ENST00000398107.2_Missense_Mutation_p.K307R	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		GAGTGTGGCAAAGCTTTCTTT	0.502																																						ENST00000398107.2																			0				endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12						c.(919-921)aAa>aGa		zinc finger protein 2							86.0	94.0	92.0					2																	95847619		2123	4274	6397	SO:0001583	missense	7549				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95847619A>G	X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.1046A>G	2.37:g.95847619A>G	ENSP00000345392:p.Lys349Arg					ZNF2_ENST00000295210.6_Missense_Mutation_p.K311R|ZNF2_ENST00000425369.1_Missense_Mutation_p.K269R|ZNF2_ENST00000340539.5_Missense_Mutation_p.K349R|ZNF2_ENST00000453539.2_Missense_Mutation_p.K362R	p.K307R	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN		READ - Rectum adenocarcinoma(193;0.0222)	4	1442	+		Ovarian(717;0.00768)	348					A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	ENST00000340539.5	37	c.920A>G	CCDS42712.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.513096	0.64522	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	T;T;T;T;T	0.35789	1.29;2.05;3.17;1.29;2.05	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000094	T	0.51346	0.1669	L	0.60845	1.875	0.39131	D	0.96185	D;P;D	0.76494	0.999;0.851;0.971	D;P;P	0.79784	0.993;0.533;0.476	T	0.55927	-0.8063	10	0.54805	T	0.06	-24.6212	7.5857	0.27991	0.9074:0.0:0.0926:0.0	.	311;307;348	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	R	307;349;269;311;362	ENSP00000381178:K307R;ENSP00000345392:K349R;ENSP00000406017:K269R;ENSP00000295210:K311R;ENSP00000411051:K362R	ENSP00000295210:K311R	K	+	2	0	ZNF2	95211346	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	5.920000	0.70017	2.178000	0.69098	0.460000	0.39030	AAA		0.502	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088		4	145	0	0	0	1	0	4	145				
EPS15L1	58513	broad.mit.edu	37	19	16515513	16515513	+	Silent	SNP	G	G	A	rs529286002	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:16515513G>A	ENST00000248070.6	-	14	1453	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	EPS15L1_ENST00000455140.2_Silent_p.L438L|EPS15L1_ENST00000594975.1_Silent_p.L438L|EPS15L1_ENST00000602009.1_Silent_p.L284L|EPS15L1_ENST00000535753.2_Silent_p.L438L|EPS15L1_ENST00000597937.1_Silent_p.L438L	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	438					endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TCTGAGCCTCGAGCTCCTGCA	0.547													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20707	0.0		0.0	False		,,,				2504	0.0					ENST00000602009.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(850-852)ctC>ctT		epidermal growth factor receptor pathway substrate 15-like 1							116.0	90.0	99.0					19																	16515513		2203	4300	6503	SO:0001819	synonymous_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16515513G>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1314C>T	19.37:g.16515513G>A						EPS15L1_ENST00000594975.1_Silent_p.L438L|EPS15L1_ENST00000597937.1_Silent_p.L438L|EPS15L1_ENST00000535753.2_Silent_p.L438L|EPS15L1_ENST00000455140.2_Silent_p.L438L|EPS15L1_ENST00000248070.6_Silent_p.L438L	p.L284L			Q9UBC2	EP15R_HUMAN			8	1747	-			438			EH 3.		A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.852C>T	CCDS32944.1																																																																																				0.547	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		21	54	0	0	0	1	0	21	54				
PCM1	5108	broad.mit.edu	37	8	17804848	17804848	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:17804848G>A	ENST00000519253.1	+	7	1188	c.937G>A	c.(937-939)Gct>Act	p.A313T	PCM1_ENST00000518537.1_Missense_Mutation_p.A352T|PCM1_ENST00000524226.1_Missense_Mutation_p.A313T|PCM1_ENST00000325083.8_Missense_Mutation_p.A313T			Q15154	PCM1_HUMAN	pericentriolar material 1	313					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGCAGAGCAAGCTATTGCAGT	0.403			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	"""RET, JAK2"""		"""papillary thyroid, CML, MPD"""	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(937-939)Gct>Act		pericentriolar material 1							161.0	157.0	158.0					8																	17804848		1943	4132	6075	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17804848G>A		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.937G>A	8.37:g.17804848G>A	ENSP00000431099:p.Ala313Thr					PCM1_ENST00000518537.1_Missense_Mutation_p.A352T|PCM1_ENST00000519253.1_Missense_Mutation_p.A313T|PCM1_ENST00000524226.1_Missense_Mutation_p.A313T	p.A313T	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	7	1376	+			313					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.937G>A		.	.	.	.	.	.	.	.	.	.	G	22.6	4.317586	0.81469	.	.	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000523055;ENST00000519253;ENST00000524226	T;T;T;T;T;T	0.24538	3.51;2.63;1.85;1.88;3.51;3.27	5.76	4.88	0.63580	.	0.097920	0.64402	D	0.000001	T	0.33990	0.0882	L	0.27053	0.805	0.80722	D	1	B;D;B;B	0.76494	0.312;0.999;0.312;0.312	B;D;B;B	0.80764	0.064;0.994;0.064;0.064	T	0.05886	-1.0858	10	0.32370	T	0.25	-18.7218	10.4991	0.44796	0.1476:0.0:0.8524:0.0	.	313;352;313;313	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	T	313;352;352;352;313;313;313	ENSP00000327077:A313T;ENSP00000428131:A352T;ENSP00000428123:A352T;ENSP00000429941:A313T;ENSP00000431099:A313T;ENSP00000430521:A313T	ENSP00000327077:A313T	A	+	1	0	PCM1	17849128	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	6.651000	0.74372	1.589000	0.49982	0.591000	0.81541	GCT		0.403	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		53	150	0	0	0	1	0	53	150				
OBSCN	84033	broad.mit.edu	37	1	228462511	228462511	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:228462511C>T	ENST00000422127.1	+	20	5966	c.5922C>T	c.(5920-5922)ggC>ggT	p.G1974G	OBSCN_ENST00000359599.6_Silent_p.G821G|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000284548.11_Silent_p.G1974G|OBSCN_ENST00000570156.2_Silent_p.G2349G|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1974	Ig-like 19.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCTGAGGGCGCCTCATCCT	0.657																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(7045-7047)ggC>ggT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							26.0	31.0	29.0					1																	228462511		2130	4242	6372	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228462511C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5922C>T	1.37:g.228462511C>T						RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.G1974G|OBSCN_ENST00000359599.6_Silent_p.G821G|OBSCN_ENST00000422127.1_Silent_p.G1974G|OBSCN_ENST00000366709.4_5'UTR	p.G2349G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			24	7121	+		Prostate(94;0.0405)	1334			Ig-like 23.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.7047C>T	CCDS58065.1																																																																																				0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		5	17	0	0	0	1	0	5	17				
COL5A1	1289	broad.mit.edu	37	9	137593114	137593114	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:137593114C>A	ENST00000371817.3	+	4	1003	c.589C>A	c.(589-591)Ccc>Acc	p.P197T	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	197	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAGCGACCACCCCATGATCGA	0.542																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(589-591)Ccc>Acc		collagen, type V, alpha 1							168.0	123.0	138.0					9																	137593114		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137593114C>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.589C>A	9.37:g.137593114C>A	ENSP00000360882:p.Pro197Thr					COL5A1_ENST00000464187.1_3'UTR	p.P197T	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	4	1003	+		Myeloproliferative disorder(178;0.0341)	197			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.589C>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539546	0.45176	.	.	ENSG00000130635	ENST00000371817	T	0.01981	4.52	5.07	4.14	0.48551	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	U	0.000000	T	0.11665	0.0284	M	0.81341	2.54	0.53688	D	0.999978	D	0.61080	0.989	D	0.64595	0.927	T	0.04708	-1.0932	10	0.35671	T	0.21	.	15.4625	0.75369	0.0:0.8605:0.1395:0.0	.	197	P20908	CO5A1_HUMAN	T	197	ENSP00000360882:P197T	ENSP00000360882:P197T	P	+	1	0	COL5A1	136732935	1.000000	0.71417	0.998000	0.56505	0.549000	0.35272	4.685000	0.61693	1.192000	0.43071	0.591000	0.81541	CCC		0.542	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		12	24	1	0	6.40141e-05	1	6.51258e-05	12	24				
FOXF1	2294	broad.mit.edu	37	16	86544993	86544993	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:86544993C>T	ENST00000262426.4	+	1	861	c.818C>T	c.(817-819)tCg>tTg	p.S273L	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	273					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						TGGCCGCCCTCGGCGTCCGCG	0.746																																						ENST00000262426.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(817-819)tCg>tTg		forkhead box F1							4.0	5.0	5.0					16																	86544993		1276	2879	4155	SO:0001583	missense	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	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 factor binding	g.chr16:86544993C>T	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.818C>T	16.37:g.86544993C>T	ENSP00000262426:p.Ser273Leu						p.S273L	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN			1	861	+			273					B2RAF4|Q5FWE5	Missense_Mutation	SNP	ENST00000262426.4	37	c.818C>T	CCDS10957.2	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039093	0.35989	.	.	ENSG00000103241	ENST00000262426	D	0.95690	-3.78	4.18	4.18	0.49190	.	0.151226	0.45867	D	0.000329	D	0.92466	0.7608	L	0.52573	1.65	0.32202	N	0.577688	B	0.31459	0.324	B	0.26770	0.073	D	0.93973	0.7251	10	0.62326	D	0.03	.	12.9631	0.58470	0.0:0.8363:0.1637:0.0	.	273	Q12946	FOXF1_HUMAN	L	273	ENSP00000262426:S273L	ENSP00000262426:S273L	S	+	2	0	FOXF1	85102494	0.433000	0.25562	1.000000	0.80357	0.762000	0.43233	1.817000	0.39002	1.859000	0.53934	0.561000	0.74099	TCG		0.746	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		7	13	0	0	0	1	0	7	13				
KCNMB4	27345	broad.mit.edu	37	12	70760631	70760631	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:70760631G>T	ENST00000258111.4	+	1	576	c.117G>T	c.(115-117)tgG>tgT	p.W39C		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	39					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	GCTTCTGCTGGCTGAGTCCCG	0.602																																						ENST00000258111.4																			0				kidney(1)|large_intestine(4)|lung(5)	10						c.(115-117)tgG>tgT		potassium large conductance calcium-activated channel, subfamily M, beta member 4							52.0	44.0	47.0					12																	70760631		2203	4300	6503	SO:0001583	missense	27345				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding	g.chr12:70760631G>T	AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"""Potassium channels"""	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.117G>T	12.37:g.70760631G>T	ENSP00000258111:p.Trp39Cys						p.W39C	NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		1	576	+	Renal(347;0.236)		39					Q8IVR3|Q9NPA4|Q9P0G5	Missense_Mutation	SNP	ENST00000258111.4	37	c.117G>T	CCDS8997.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641177	0.67244	.	.	ENSG00000135643	ENST00000258111	T	0.09723	2.95	3.31	2.4	0.29515	.	0.146549	0.49916	D	0.000138	T	0.21921	0.0528	L	0.51422	1.61	0.80722	D	1	D	0.67145	0.996	D	0.63703	0.917	T	0.00426	-1.1746	10	0.72032	D	0.01	-8.1577	10.3738	0.44071	0.1001:0.0:0.8999:0.0	.	39	Q86W47	KCMB4_HUMAN	C	39	ENSP00000258111:W39C	ENSP00000258111:W39C	W	+	3	0	KCNMB4	69046898	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.045000	0.89436	0.484000	0.27630	0.436000	0.28706	TGG		0.602	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	NM_014505		9	78	1	0	1.12685e-05	1	1.15187e-05	9	78				
MARK2	2011	broad.mit.edu	37	11	63662752	63662752	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:63662752T>C	ENST00000509502.2	+	2	540	c.77T>C	c.(76-78)aTt>aCt	p.I26T	MARK2_ENST00000513765.2_Missense_Mutation_p.I26T|MARK2_ENST00000377809.4_Missense_Mutation_p.I59T|MARK2_ENST00000315032.8_Missense_Mutation_p.I59T|MARK2_ENST00000413835.2_Missense_Mutation_p.I59T|MARK2_ENST00000377810.3_Missense_Mutation_p.I26T|MARK2_ENST00000350490.7_Missense_Mutation_p.I59T|MARK2_ENST00000425897.2_Missense_Mutation_p.I26T|MARK2_ENST00000502399.3_Missense_Mutation_p.I59T|MARK2_ENST00000508192.1_Missense_Mutation_p.I59T|MARK2_ENST00000361128.5_Missense_Mutation_p.I59T|MARK2_ENST00000408948.3_Missense_Mutation_p.I26T|MARK2_ENST00000402010.2_Missense_Mutation_p.I59T	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CTCAAGACCATTGGCAAGGGT	0.572																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(175-177)aTt>aCt		MAP/microtubule affinity-regulating kinase 2							67.0	63.0	64.0					11																	63662752		2201	4298	6499	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63662752T>C	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.77T>C	11.37:g.63662752T>C	ENSP00000423974:p.Ile26Thr					MARK2_ENST00000513765.2_Missense_Mutation_p.I26T|MARK2_ENST00000508192.1_Missense_Mutation_p.I59T|MARK2_ENST00000350490.7_Missense_Mutation_p.I59T|MARK2_ENST00000413835.2_Missense_Mutation_p.I59T|MARK2_ENST00000315032.8_Missense_Mutation_p.I59T|MARK2_ENST00000361128.5_Missense_Mutation_p.I59T|MARK2_ENST00000377809.4_Missense_Mutation_p.I59T|MARK2_ENST00000509502.2_Missense_Mutation_p.I26T|MARK2_ENST00000425897.2_Missense_Mutation_p.I26T|MARK2_ENST00000377810.3_Missense_Mutation_p.I26T|MARK2_ENST00000408948.3_Missense_Mutation_p.I26T|MARK2_ENST00000502399.3_Missense_Mutation_p.I59T	p.I59T	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			2	755	+			59			Protein kinase.			Missense_Mutation	SNP	ENST00000509502.2	37	c.176T>C	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.758266	0.89843	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000543220;ENST00000540169;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053559	0.64402	D	0.000001	T	0.70325	0.3211	H	0.94306	3.52	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.986;0.984;0.997;0.993	D;D;D;D;D;D	0.85130	0.997;0.992;0.91;0.969;0.984;0.95	T	0.79478	-0.1787	10	0.87932	D	0	.	14.7997	0.69906	0.0:0.0:0.0:1.0	.	26;26;59;59;59;59	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	T	59;59;59;59;26;59;59;59;59;26;26;26;26;26;26	ENSP00000385751:I59T;ENSP00000326632:I59T;ENSP00000367040:I59T;ENSP00000389184:I59T;ENSP00000367041:I26T;ENSP00000425765:I59T;ENSP00000355091:I59T;ENSP00000294247:I59T;ENSP00000444956:I26T;ENSP00000437509:I26T;ENSP00000423974:I26T;ENSP00000421075:I26T;ENSP00000386128:I26T;ENSP00000415494:I26T	ENSP00000326632:I59T	I	+	2	0	MARK2	63419328	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.652000	0.83633	2.326000	0.78906	0.533000	0.62120	ATT		0.572	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		26	83	0	0	0	1	0	26	83				
CACYBP	27101	broad.mit.edu	37	1	174976282	174976282	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:174976282G>T	ENST00000367679.2	+	4	829	c.381G>T	c.(379-381)atG>atT	p.M127I	CACYBP_ENST00000367681.2_Missense_Mutation_p.M84I|CACYBP_ENST00000405362.1_Missense_Mutation_p.M84I	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	127	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.|Interaction with SKP1.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.M127I(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						GTTACTCCATGATTGTGAACA	0.353																																						ENST00000367681.2																			1	Substitution - Missense(1)	p.M127I(1)	lung(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						c.(250-252)atG>atT		calcyclin binding protein							133.0	130.0	131.0					1																	174976282		2203	4300	6503	SO:0001583	missense	27101					beta-catenin destruction complex	protein homodimerization activity	g.chr1:174976282G>T	BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.381G>T	1.37:g.174976282G>T	ENSP00000356652:p.Met127Ile					CACYBP_ENST00000405362.1_Missense_Mutation_p.M84I|CACYBP_ENST00000367679.2_Missense_Mutation_p.M127I	p.M84I	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN			4	892	+			127			CS.|Interaction with SKP1.		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Missense_Mutation	SNP	ENST00000367679.2	37	c.252G>T	CCDS1315.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984621	0.74474	.	.	ENSG00000116161	ENST00000367681;ENST00000450101;ENST00000367679;ENST00000405362	T;T;T	0.12569	2.67;2.67;2.67	6.08	6.08	0.98989	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.24353	0.0590	M	0.67397	2.05	0.80722	D	1	B	0.23058	0.079	B	0.30943	0.122	T	0.01688	-1.1295	10	0.54805	T	0.06	-16.6554	20.6634	0.99662	0.0:0.0:1.0:0.0	.	127	Q9HB71	CYBP_HUMAN	I	84;100;127;84	ENSP00000356654:M84I;ENSP00000356652:M127I;ENSP00000385771:M84I	ENSP00000356652:M127I	M	+	3	0	CACYBP	173242905	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.783000	0.91813	2.894000	0.99253	0.655000	0.94253	ATG		0.353	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412		23	71	1	0	2.21704e-12	1	2.30811e-12	23	71				
PPP1R15A	23645	broad.mit.edu	37	19	49377372	49377372	+	Silent	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:49377372C>A	ENST00000200453.5	+	2	1151	c.882C>A	c.(880-882)gcC>gcA	p.A294A		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	294	Glu-rich.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CAGCCCCAGCCCAGAGGCCCC	0.587																																						ENST00000200453.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(880-882)gcC>gcA		protein phosphatase 1, regulatory subunit 15A							52.0	63.0	60.0					19																	49377372		2203	4300	6503	SO:0001819	synonymous_variant	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49377372C>A	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.882C>A	19.37:g.49377372C>A							p.A294A	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	1151	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	294			Glu-rich.		B4DKQ3|Q6IA96|Q9NVU6	Silent	SNP	ENST00000200453.5	37	c.882C>A	CCDS12738.1																																																																																				0.587	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		34	68	1	0	1.836e-18	1	1.93239e-18	34	68				
ATP6V0D1	9114	broad.mit.edu	37	16	67472484	67472484	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67472484A>G	ENST00000290949.3	-	8	1153	c.1003T>C	c.(1003-1005)Tgt>Cgt	p.C335R	ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.C376R|ATP6V0D1_ENST00000602876.1_Missense_Mutation_p.C258R	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	335					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TGGGCGATACATTCAGCGATC	0.522																																						ENST00000290949.3																			0				large_intestine(3)|lung(3)|urinary_tract(2)	8						c.(1003-1005)Tgt>Cgt		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1							165.0	136.0	146.0					16																	67472484		2198	4300	6498	SO:0001583	missense	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67472484A>G	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.1003T>C	16.37:g.67472484A>G	ENSP00000290949:p.Cys335Arg					ATP6V0D1_ENST00000602876.1_Missense_Mutation_p.C258R|ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.C376R	p.C335R	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	8	1153	-		Ovarian(137;0.0563)	335					P12953|Q02547	Missense_Mutation	SNP	ENST00000290949.3	37	c.1003T>C	CCDS10838.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.350969	0.61183	.	.	ENSG00000159720	ENST00000290949;ENST00000426604;ENST00000540149	T;T	0.31247	1.5;1.5	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.67534	0.2903	H	0.96208	3.785	0.80722	D	1	D;D	0.65815	0.995;0.973	D;D	0.79108	0.992;0.99	T	0.78800	-0.2062	10	0.87932	D	0	-27.2646	13.8146	0.63283	1.0:0.0:0.0:0.0	.	376;335	F5GYQ1;P61421	.;VA0D1_HUMAN	R	335;258;376	ENSP00000290949:C335R;ENSP00000441282:C376R	ENSP00000290949:C335R	C	-	1	0	ATP6V0D1	66029985	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.332000	0.96446	1.943000	0.56356	0.529000	0.55759	TGT		0.522	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		30	65	0	0	0	1	0	30	65				
FAN1	22909	broad.mit.edu	37	15	31210385	31210385	+	Silent	SNP	C	C	T	rs144494434		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:31210385C>T	ENST00000362065.4	+	6	2121	c.1830C>T	c.(1828-1830)caC>caT	p.H610H		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	610					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CAGCCACGCACATGCTGAGTG	0.473								Direct reversal of damage					C|||	1	0.000199681	0.0	0.0	5008	,	,		17283	0.0		0.001	False		,,,				2504	0.0					ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(1828-1830)caC>caT	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							117.0	112.0	114.0					15																	31210385		2202	4300	6502	SO:0001819	synonymous_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31210385C>T		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1830C>T	15.37:g.31210385C>T							p.H610H	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			6	2121	+			610					A8K4M2|Q86WU8	Silent	SNP	ENST00000362065.4	37	c.1830C>T	CCDS32186.1																																																																																				0.473	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		4	106	0	0	0	1	0	4	106				
POC1A	25886	broad.mit.edu	37	3	52185030	52185030	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52185030A>G	ENST00000296484.2	-	2	143		c.e2+1		POC1A_ENST00000474012.1_Splice_Site|POC1A_ENST00000394970.2_Splice_Site	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A						cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						GCCTCTTCTTACCCAGCTGCT	0.542																																						ENST00000394970.2																			0				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						c.e2+1		POC1 centriolar protein A							187.0	168.0	175.0					3																	52185030		2203	4300	6503	SO:0001630	splice_region_variant	25886					centriole|microtubule basal body		g.chr3:52185030A>G	AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"""WD repeat domain containing"""	24488	protein-coding gene	gene with protein product		614783	"""WD repeat domain 51A"", ""POC1 centriolar protein homolog A (Chlamydomonas)"""	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.103+1T>C	3.37:g.52185030A>G						POC1A_ENST00000296484.2_Splice_Site|POC1A_ENST00000474012.1_Splice_Site		NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN			2	421	-								A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Splice_Site	SNP	ENST00000296484.2	37		CCDS2846.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.298091	0.40694	.	.	ENSG00000164087	ENST00000296484;ENST00000394970	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7482	0.69505	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POC1A	52160070	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	7.127000	0.77210	2.135000	0.66039	0.528000	0.53228	.		0.542	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	NM_015426	Intron	49	145	0	0	0	1	0	49	145				
GALNTL6	442117	broad.mit.edu	37	4	172735823	172735823	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:172735823A>G	ENST00000506823.1	+	2	749	c.92A>G	c.(91-93)tAc>tGc	p.Y31C	GALNTL6_ENST00000511251.1_Missense_Mutation_p.Y31C	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	31					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.Y31C(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TGGTCTCTGTACAAGGATAAG	0.493																																						ENST00000506823.1																			1	Substitution - Missense(1)	p.Y31C(1)	lung(1)	breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						c.(91-93)tAc>tGc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6							99.0	96.0	97.0					4																	172735823		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:172735823A>G		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.92A>G	4.37:g.172735823A>G	ENSP00000423313:p.Tyr31Cys					GALNTL6_ENST00000511251.1_Missense_Mutation_p.Y31C	p.Y31C	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN			2	749	+			31					Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.92A>G	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.411747	0.83340	.	.	ENSG00000174473	ENST00000511251;ENST00000506823;ENST00000404275	T	0.57907	0.37	5.9	5.9	0.94986	.	0.000000	0.36778	N	0.002409	T	0.63498	0.2516	L	0.46157	1.445	0.80722	D	1	D	0.71674	0.998	P	0.60173	0.87	T	0.64901	-0.6298	10	0.56958	D	0.05	.	15.5056	0.75739	1.0:0.0:0.0:0.0	.	31	Q49A17	GLTL6_HUMAN	C	31	ENSP00000423313:Y31C	ENSP00000385382:Y31C	Y	+	2	0	GALNTL6	172972398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.182000	0.77689	2.254000	0.74563	0.460000	0.39030	TAC		0.493	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		13	53	0	0	0	1	0	13	53				
DGKK	139189	broad.mit.edu	37	X	50122668	50122668	+	RNA	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:50122668T>C	ENST00000376025.2	-	0	2878							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ACCTCCAGCATAGCTGGTAAT	0.468																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							182.0	157.0	165.0					X																	50122668		1941	4144	6085			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50122668T>C	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50122668T>C										Q5KSL6	DGKK_HUMAN			0	2878	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.468	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		23	35	0	0	0	1	0	23	35				
COL3A1	1281	broad.mit.edu	37	2	189873756	189873756	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:189873756A>G	ENST00000304636.3	+	48	3802	c.3632A>G	c.(3631-3633)gAa>gGa	p.E1211G	COL3A1_ENST00000317840.5_Missense_Mutation_p.E908G	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1211					aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	ATTGGAGGTGAAAAAGCTGGC	0.532																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(3631-3633)gAa>gGa		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						100.0	107.0	104.0					2																	189873756		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189873756A>G	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3632A>G	2.37:g.189873756A>G	ENSP00000304408:p.Glu1211Gly					COL3A1_ENST00000317840.5_Missense_Mutation_p.E908G	p.E1211G	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		48	3802	+			1211					D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.3632A>G	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	A	17.90	3.501960	0.64298	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.90844	-2.62;-2.74	5.54	5.54	0.83059	.	0.000000	0.52532	D	0.000068	D	0.88066	0.6337	N	0.08118	0	0.32721	N	0.510272	D	0.76494	0.999	D	0.64144	0.922	D	0.86615	0.1875	10	0.14656	T	0.56	.	15.6737	0.77297	1.0:0.0:0.0:0.0	.	1211	P02461	CO3A1_HUMAN	G	1211;908	ENSP00000304408:E1211G;ENSP00000315243:E908G	ENSP00000304408:E1211G	E	+	2	0	COL3A1	189582001	1.000000	0.71417	0.928000	0.36995	0.841000	0.47740	7.093000	0.76937	2.103000	0.63969	0.533000	0.62120	GAA		0.532	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		32	107	0	0	0	1	0	32	107				
EFNA2	1943	broad.mit.edu	37	19	1299893	1299893	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1299893C>T	ENST00000215368.2	+	4	606	c.591C>T	c.(589-591)tgC>tgT	p.C197C	MUM1_ENST00000344663.3_Intron	NM_001405.3	NP_001396.2	O43921	EFNA2_HUMAN	ephrin-A2	197					axon guidance (GO:0007411)|bone remodeling (GO:0046849)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|olfactory bulb development (GO:0021772)|osteoclast differentiation (GO:0030316)	anchored component of membrane (GO:0031225)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			lung(2)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGCGGCTGCCGCCTCTTCC	0.682																																						ENST00000215368.2																			0				lung(2)	2						c.(589-591)tgC>tgT		ephrin-A2							31.0	29.0	30.0					19																	1299893		2201	4298	6499	SO:0001819	synonymous_variant	1943				cell-cell signaling	anchored to membrane|plasma membrane	ephrin receptor binding	g.chr19:1299893C>T		CCDS12061.1	19p13	2011-03-09			ENSG00000099617	ENSG00000099617		"""Ephrins"""	3222	protein-coding gene	gene with protein product		602756		EPLG6			Standard	NM_001405		Approved	ELF-1, LERK6	uc002lry.2	O43921		ENST00000215368.2:c.591C>T	19.37:g.1299893C>T						MUM1_ENST00000344663.3_Intron	p.C197C	NM_001405.3	NP_001396.2	O43921	EFNA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	606	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	197					O76020	Silent	SNP	ENST00000215368.2	37	c.591C>T	CCDS12061.1																																																																																				0.682	EFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450016.1	NM_001405		4	14	0	0	0	1	0	4	14				
OR5D16	390144	broad.mit.edu	37	11	55606662	55606662	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:55606662G>C	ENST00000378396.1	+	1	435	c.435G>C	c.(433-435)atG>atC	p.M145I		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCTGTGCCATGCTGGTGGTTG	0.448																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(433-435)atG>atC		olfactory receptor, family 5, subfamily D, member 16							126.0	114.0	118.0					11																	55606662		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606662G>C	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.435G>C	11.37:g.55606662G>C	ENSP00000367649:p.Met145Ile						p.M145I	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	435	+		all_epithelial(135;0.208)	145					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.435G>C	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	12.92	2.083473	0.36758	.	.	ENSG00000205029	ENST00000378396	T	0.00063	8.78	4.31	1.06	0.20224	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.04063	-0.285	0.09310	N	1	B	0.12630	0.006	B	0.21151	0.033	T	0.00501	-1.1702	9	0.22109	T	0.4	-2.3044	7.178	0.25755	0.0844:0.0:0.6187:0.297	.	145	Q8NGK9	OR5DG_HUMAN	I	145	ENSP00000367649:M145I	ENSP00000367649:M145I	M	+	3	0	OR5D16	55363238	0.000000	0.05858	0.001000	0.08648	0.631000	0.37964	-2.580000	0.00907	0.427000	0.26145	-0.273000	0.10243	ATG		0.448	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		31	76	0	0	0	1	0	31	76				
TNFRSF1A	7132	broad.mit.edu	37	12	6439184	6439184	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:6439184A>G	ENST00000162749.2	-	9	1116	c.817T>C	c.(817-819)Ttc>Ctc	p.F273L	TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.F230L	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	273					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						gtgggactgaagcttgggttt	0.602																																						ENST00000162749.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						c.(817-819)Ttc>Ctc		tumor necrosis factor receptor superfamily, member 1A							40.0	48.0	45.0					12																	6439184		2203	4300	6503	SO:0001583	missense	7132				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity	g.chr12:6439184A>G	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.817T>C	12.37:g.6439184A>G	ENSP00000162749:p.Phe273Leu					TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.F230L	p.F273L	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN			9	1116	-			273					A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	ENST00000162749.2	37	c.817T>C	CCDS8542.1	.	.	.	.	.	.	.	.	.	.	A	9.941	1.217566	0.22373	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	D;D	0.91996	-2.95;-2.93	4.23	1.79	0.24919	.	352.027000	0.00166	N	0.000000	D	0.89908	0.6851	M	0.63843	1.955	0.09310	N	1	B;B	0.26318	0.001;0.146	B;B	0.22152	0.003;0.038	T	0.70956	-0.4731	9	.	.	.	-0.6677	4.7747	0.13173	0.6167:0.1954:0.0:0.1878	.	230;273	F5H061;P19438	.;TNR1A_HUMAN	L	273;230	ENSP00000162749:F273L;ENSP00000438343:F230L	.	F	-	1	0	TNFRSF1A	6309445	0.141000	0.22595	0.005000	0.12908	0.084000	0.17831	0.925000	0.28791	0.139000	0.18822	0.459000	0.35465	TTC		0.602	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399038.1	NM_001065		3	21	0	0	0	1	0	3	21				
BMP8B	656	broad.mit.edu	37	1	40230438	40230438	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:40230438C>T	ENST00000372827.3	-	4	1100	c.725G>A	c.(724-726)cGc>cAc	p.R242H	BMP8B_ENST00000397360.2_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	242					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|growth (GO:0040007)|ossification (GO:0001503)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTGTTGGGAGCGTGGGGCCCG	0.657																																						ENST00000372827.3																			0				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4						c.(724-726)cGc>cAc		bone morphogenetic protein 8b							32.0	33.0	33.0					1																	40230438		2199	4272	6471	SO:0001583	missense	656				cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	g.chr1:40230438C>T	BC023526	CCDS444.1	1p35-p32	2014-01-30	2008-05-22	2003-10-22	ENSG00000116985	ENSG00000116985		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1075	protein-coding gene	gene with protein product	"""osteogenic protein 2"""	602284	"""bone morphogenetic protein 8 (osteogenic protein 2)"""	BMP8		1460021, 9070944	Standard	NM_001720		Approved	OP-2	uc001cdz.1	P34820	OTTHUMG00000009247	ENST00000372827.3:c.725G>A	1.37:g.40230438C>T	ENSP00000361915:p.Arg242His					BMP8B_ENST00000397360.2_Intron	p.R242H	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		4	1100	-	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	242					E7EMY8|Q32NE5|Q53ZM7|Q9NUF0	Missense_Mutation	SNP	ENST00000372827.3	37	c.725G>A	CCDS444.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398006	0.42512	.	.	ENSG00000116985	ENST00000372827	T	0.63913	-0.07	4.04	2.15	0.27550	Transforming growth factor-beta, N-terminal (1);	0.952985	0.08380	U	0.954687	T	0.73628	0.3611	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.63042	-0.6725	10	0.31617	T	0.26	.	8.7443	0.34575	0.0:0.8077:0.0:0.1923	.	242	P34820	BMP8B_HUMAN	H	242	ENSP00000361915:R242H	ENSP00000361915:R242H	R	-	2	0	BMP8B	40003025	0.186000	0.23225	0.867000	0.34043	0.246000	0.25737	0.768000	0.26590	0.375000	0.24679	0.558000	0.71614	CGC		0.657	BMP8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025641.1	NM_001720		17	115	0	0	0	1	0	17	115				
PALLD	23022	broad.mit.edu	37	4	169632741	169632741	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:169632741A>T	ENST00000505667.1	+	10	1804	c.1631A>T	c.(1630-1632)gAa>gTa	p.E544V	PALLD_ENST00000261509.6_Missense_Mutation_p.E544V|PALLD_ENST00000335742.7_Missense_Mutation_p.E162V|PALLD_ENST00000512127.1_Missense_Mutation_p.E162V			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	544					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCCAACACTGAAAACTGTAGT	0.448									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000335742.7																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(484-486)gAa>gTa		palladin, cytoskeletal associated protein							85.0	80.0	82.0					4																	169632741		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169632741A>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1631A>T	4.37:g.169632741A>T	ENSP00000425556:p.Glu544Val					PALLD_ENST00000505667.1_Missense_Mutation_p.E544V|PALLD_ENST00000512127.1_Missense_Mutation_p.E162V|PALLD_ENST00000261509.6_Missense_Mutation_p.E544V	p.E162V			Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	10	1842	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	544					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.485A>T	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.417158	0.42918	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127	T;T;T;T	0.64618	-0.11;-0.11;0.16;-0.06	6.17	6.17	0.99709	.	0.000000	0.32671	U	0.005795	T	0.73953	0.3653	M	0.67953	2.075	0.32577	N	0.528939	D;P;D	0.76494	0.965;0.518;0.999	P;B;D	0.64410	0.703;0.154;0.925	T	0.78373	-0.2229	10	0.30854	T	0.27	.	12.6398	0.56702	0.8623:0.1377:0.0:0.0	.	544;162;544	B7ZMM5;B3KTG2;B2RTX2	.;.;.	V	544;162;544;162	ENSP00000261509:E544V;ENSP00000336735:E162V;ENSP00000425556:E544V;ENSP00000426947:E162V	ENSP00000261509:E544V	E	+	2	0	PALLD	169869316	1.000000	0.71417	0.434000	0.26772	0.011000	0.07611	4.944000	0.63561	2.371000	0.80710	0.533000	0.62120	GAA		0.448	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		14	46	0	0	0	1	0	14	46				
KRTAP10-10	353333	broad.mit.edu	37	21	46057661	46057661	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:46057661T>C	ENST00000380095.1	+	1	389	c.327T>C	c.(325-327)tgT>tgC	p.C109C	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	109	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						tgcccgtctgtaacaagcctg	0.632																																						ENST00000380095.1																			0				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						c.(325-327)tgT>tgC		keratin associated protein 10-10							208.0	177.0	188.0					21																	46057661		2203	4300	6503	SO:0001819	synonymous_variant	353333					keratin filament		g.chr21:46057661T>C	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.327T>C	21.37:g.46057661T>C						TSPEAR_ENST00000323084.4_Intron	p.C109C	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN			1	389	+			109			15 X 5 AA repeats of C-C-X(3).			Silent	SNP	ENST00000380095.1	37	c.327T>C	CCDS33585.1																																																																																				0.632	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		59	195	0	0	0	1	0	59	195				
SLC25A21	89874	broad.mit.edu	37	14	37153064	37153064	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:37153064G>A	ENST00000331299.5	-	9	1322	c.807C>T	c.(805-807)ggC>ggT	p.G269G	SLC25A21_ENST00000555449.1_Silent_p.G269G	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	269					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGGGAAGCAGGCCTTTGTACA	0.343																																						ENST00000331299.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9						c.(805-807)ggC>ggT		solute carrier family 25 (mitochondrial oxoadipate carrier), member 21							87.0	89.0	88.0					14																	37153064		2203	4300	6503	SO:0001819	synonymous_variant	89874				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding	g.chr14:37153064G>A	AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"""Solute carriers"""	14411	protein-coding gene	gene with protein product		607571	"""solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"""			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.807C>T	14.37:g.37153064G>A						SLC25A21_ENST00000555449.1_Silent_p.G269G	p.G269G	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)	9	1322	-	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		269					A8K0L0|G3V4L5|Q3MJ99	Silent	SNP	ENST00000331299.5	37	c.807C>T	CCDS9663.1																																																																																				0.343	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	NM_030631		6	28	0	0	0	1	0	6	28				
GLCE	26035	broad.mit.edu	37	15	69548582	69548582	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:69548582A>G	ENST00000261858.2	+	3	665	c.437A>G	c.(436-438)tAt>tGt	p.Y146C	GLCE_ENST00000559420.2_Missense_Mutation_p.Y82C	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	146					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GTGGTTCAGTATGATGGCTAT	0.423																																						ENST00000261858.2																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(436-438)tAt>tGt		glucuronic acid epimerase							281.0	275.0	277.0					15																	69548582		2200	4298	6498	SO:0001583	missense	26035				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	g.chr15:69548582A>G	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"""heparan sulfate epimerase"""	612134	"""D-glucuronyl C5-epimerase"", ""UDP-glucuronic acid epimerase"""			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.437A>G	15.37:g.69548582A>G	ENSP00000261858:p.Tyr146Cys					GLCE_ENST00000559420.2_Missense_Mutation_p.Y82C	p.Y146C	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN			3	665	+			146					Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	c.437A>G	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.834502	0.71373	.	.	ENSG00000138604	ENST00000261858	T	0.32753	1.44	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58880	-0.7558	10	0.56958	D	0.05	-14.2385	14.3623	0.66782	1.0:0.0:0.0:0.0	.	146	O94923	GLCE_HUMAN	C	146	ENSP00000261858:Y146C	ENSP00000261858:Y146C	Y	+	2	0	GLCE	67335636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.225000	0.78051	2.129000	0.65627	0.533000	0.62120	TAT		0.423	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		76	230	0	0	0	1	0	76	230				
ASB10	136371	broad.mit.edu	37	7	150878067	150878067	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:150878067T>C	ENST00000420175.2	-	3	1087	c.1063A>G	c.(1063-1065)Aac>Gac	p.N355D	ASB10_ENST00000434669.1_Missense_Mutation_p.N400D|ASB10_ENST00000422024.1_Missense_Mutation_p.N400D|ASB10_ENST00000377867.3_Missense_Mutation_p.N340D|ASB10_ENST00000275838.1_Missense_Mutation_p.N355D			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	355					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGCCATGGTTGAGCAGAGCC	0.697																																						ENST00000422024.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(1198-1200)Aac>Gac		ankyrin repeat and SOCS box containing 10							18.0	17.0	17.0					7																	150878067		2196	4271	6467	SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150878067T>C	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1063A>G	7.37:g.150878067T>C	ENSP00000391137:p.Asn355Asp					ASB10_ENST00000420175.2_Missense_Mutation_p.N355D|ASB10_ENST00000275838.1_Missense_Mutation_p.N355D|ASB10_ENST00000377867.3_Missense_Mutation_p.N340D|ASB10_ENST00000434669.1_Missense_Mutation_p.N400D	p.N400D	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1323	-			355					A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.1198A>G	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	T	16.91	3.253066	0.59212	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.26	5.26	0.73747	Ankyrin repeat-containing domain (4);	0.046152	0.85682	D	0.000000	T	0.66208	0.2766	N	0.17838	0.53	0.51482	D	0.999929	P;D;D	0.89917	0.905;1.0;0.999	P;D;D	0.97110	0.624;1.0;0.996	T	0.66976	-0.5787	10	0.37606	T	0.19	-11.6783	14.6545	0.68823	0.0:0.0:0.0:1.0	.	340;355;400	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	D	355;340;400;400;355	ENSP00000275838:N355D;ENSP00000367098:N340D;ENSP00000401369:N400D;ENSP00000398247:N400D;ENSP00000391137:N355D	ENSP00000275838:N355D	N	-	1	0	ASB10	150509000	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	5.926000	0.70070	2.108000	0.64289	0.482000	0.46254	AAC		0.697	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		7	25	0	0	0	1	0	7	25				
PRDM13	59336	broad.mit.edu	37	6	100062519	100062519	+	Missense_Mutation	SNP	C	C	T	rs201399307		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:100062519C>T	ENST00000369215.4	+	4	2313	c.2008C>T	c.(2008-2010)Ccc>Tcc	p.P670S		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	670					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GGGTGCCGAGCCCGGCTATCC	0.697																																						ENST00000369214.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(2038-2040)Ccc>Tcc		PR domain containing 13							14.0	17.0	16.0					6																	100062519		1757	3859	5616	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100062519C>T	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.2008C>T	6.37:g.100062519C>T	ENSP00000358217:p.Pro670Ser					PRDM13_ENST00000369215.4_Missense_Mutation_p.P670S	p.P680S	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	2299	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	670					Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.2038C>T	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884751	0.33255	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.06768	3.26;3.27	4.58	3.67	0.42095	.	0.502633	0.15286	N	0.270402	T	0.01835	0.0058	N	0.14661	0.345	0.19300	N	0.999977	B	0.15473	0.013	B	0.08055	0.003	T	0.44267	-0.9339	10	0.56958	D	0.05	-8.2647	9.607	0.39639	0.0:0.8059:0.0:0.1941	.	670	Q9H4Q3	PRD13_HUMAN	S	670;680	ENSP00000358217:P670S;ENSP00000358216:P680S	ENSP00000358216:P680S	P	+	1	0	PRDM13	100169240	0.990000	0.36364	0.819000	0.32651	0.942000	0.58702	1.315000	0.33608	1.230000	0.43646	0.563000	0.77884	CCC		0.697	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			18	55	0	0	0	1	0	18	55				
PKHD1L1	93035	broad.mit.edu	37	8	110437463	110437463	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:110437463T>C	ENST00000378402.5	+	24	2949		c.e24+2			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCTTAAAGGTATATGAAAAA	0.313										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.e24+2		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							29.0	29.0	29.0					8																	110437463		1802	4067	5869	SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110437463T>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2845+2T>C	8.37:g.110437463T>C		HNSCC(38;0.096)						NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		24	2949	+								Q567P2|Q9UF27	Splice_Site	SNP	ENST00000378402.5	37		CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.792427	0.50102	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8975	0.52663	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PKHD1L1	110506639	1.000000	0.71417	0.993000	0.49108	0.580000	0.36256	2.586000	0.46119	2.114000	0.64651	0.528000	0.53228	.		0.313	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron	4	36	0	0	0	1	0	4	36				
NOS1	4842	broad.mit.edu	37	12	117655920	117655920	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:117655920T>C	ENST00000338101.4	-	28	4326	c.4322A>G	c.(4321-4323)tAc>tGc	p.Y1441C	NOS1_ENST00000317775.6_Missense_Mutation_p.Y1407C|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GGTCACTTCGTACGTTCGCAG	0.483																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(4219-4221)tAc>tGc		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						320.0	314.0	316.0					12																	117655920		1975	4166	6141	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117655920T>C		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4322A>G	12.37:g.117655920T>C	ENSP00000337459:p.Tyr1441Cys					NOS1_ENST00000338101.4_Missense_Mutation_p.Y1441C|NOS1_ENST00000344089.3_3'UTR	p.Y1407C	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	28	4905	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1407	Y -> I (in Ref. 3; AAA36376).					Missense_Mutation	SNP	ENST00000338101.4	37	c.4220A>G	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.422201	0.43020	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	T;T	0.01379	4.96;4.98	4.71	4.71	0.59529	.	0.116849	0.64402	D	0.000011	T	0.03095	0.0091	M	0.74258	2.255	0.80722	D	1	B	0.17268	0.021	B	0.17722	0.019	T	0.38866	-0.9641	10	0.42905	T	0.14	-18.882	14.3411	0.66627	0.0:0.0:0.0:1.0	.	1407	P29475	NOS1_HUMAN	C	1302;1407;1441	ENSP00000320758:Y1407C;ENSP00000337459:Y1441C	ENSP00000320758:Y1407C	Y	-	2	0	NOS1	116140303	1.000000	0.71417	0.329000	0.25429	0.747000	0.42532	7.501000	0.81600	1.984000	0.57885	0.459000	0.35465	TAC		0.483	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			11	648	0	0	0	1	0	11	648				
G6PC2	57818	broad.mit.edu	37	2	169764399	169764399	+	Missense_Mutation	SNP	G	G	A	rs541931958		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:169764399G>A	ENST00000375363.3	+	5	970	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000461586.1_3'UTR	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	293					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						CTGAGCTTCCGGTTGCTCTGT	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21706	0.0		0.0	False		,,,				2504	0.0					ENST00000375363.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						c.(877-879)cGg>cAg		glucose-6-phosphatase, catalytic, 2							136.0	130.0	132.0					2																	169764399		2203	4300	6503	SO:0001583	missense	57818				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr2:169764399G>A	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.878G>A	2.37:g.169764399G>A	ENSP00000364512:p.Arg293Gln					SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000461586.1_3'UTR	p.R293Q	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN			5	970	+			293					E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	c.878G>A	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052061	0.36181	.	.	ENSG00000152254	ENST00000375363	T	0.77098	-1.07	5.98	4.93	0.64822	.	0.000000	0.64402	D	0.000005	T	0.71065	0.3296	M	0.62723	1.935	0.80722	D	1	P	0.43662	0.814	B	0.29598	0.104	T	0.77330	-0.2628	10	0.56958	D	0.05	-18.4181	16.1012	0.81172	0.0742:0.0:0.9258:0.0	.	293	Q9NQR9	G6PC2_HUMAN	Q	293	ENSP00000364512:R293Q	ENSP00000364512:R293Q	R	+	2	0	G6PC2	169472645	0.987000	0.35691	0.999000	0.59377	0.128000	0.20619	2.051000	0.41307	2.834000	0.97654	0.655000	0.94253	CGG		0.483	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		8	204	0	0	0	1	0	8	204				
EPHA1	2041	broad.mit.edu	37	7	143088755	143088755	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:143088755G>A	ENST00000275815.3	-	17	2896	c.2810C>T	c.(2809-2811)gCt>gTt	p.A937V	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	937	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GTCCAGCCCAGCCGAGTGGAA	0.622																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(2809-2811)gCt>gTt		EPH receptor A1							66.0	51.0	56.0					7																	143088755		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143088755G>A	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2810C>T	7.37:g.143088755G>A	ENSP00000275815:p.Ala937Val						p.A937V	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			17	2896	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	937			SAM.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.2810C>T	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358139	0.41801	.	.	ENSG00000146904	ENST00000275815	T	0.53423	0.62	4.67	4.67	0.58626	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.106433	0.41712	D	0.000838	T	0.63200	0.2491	M	0.87328	2.875	0.41948	D	0.990642	B	0.31752	0.338	B	0.41374	0.355	T	0.68424	-0.5412	10	0.49607	T	0.09	.	18.1442	0.89649	0.0:0.0:1.0:0.0	.	937	P21709	EPHA1_HUMAN	V	937	ENSP00000275815:A937V	ENSP00000275815:A937V	A	-	2	0	EPHA1	142798877	1.000000	0.71417	0.060000	0.19600	0.018000	0.09664	7.689000	0.84165	2.583000	0.87209	0.561000	0.74099	GCT		0.622	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			17	56	0	0	0	1	0	17	56				
FHDC1	85462	broad.mit.edu	37	4	153897502	153897502	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:153897502C>T	ENST00000511601.1	+	12	3247	c.3059C>T	c.(3058-3060)cCg>cTg	p.P1020L	FHDC1_ENST00000260008.3_Missense_Mutation_p.P1020L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1020									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CCCAAGACCCCGTCAGTGCCC	0.607																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3058-3060)cCg>cTg		FH2 domain containing 1							60.0	70.0	67.0					4																	153897502		2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153897502C>T	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.3059C>T	4.37:g.153897502C>T	ENSP00000427567:p.Pro1020Leu					FHDC1_ENST00000260008.3_Missense_Mutation_p.P1020L	p.P1020L			Q9C0D6	FHDC1_HUMAN			12	3247	+	all_hematologic(180;0.093)		1020						Missense_Mutation	SNP	ENST00000511601.1	37	c.3059C>T	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321344	0.23994	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.34072	1.38;1.38	5.34	5.34	0.76211	.	0.933106	0.09331	N	0.816952	T	0.27663	0.0680	L	0.29908	0.895	0.52501	D	0.999953	P	0.35226	0.491	B	0.22753	0.041	T	0.07908	-1.0748	10	0.41790	T	0.15	.	14.5457	0.68030	0.0:1.0:0.0:0.0	.	1020	Q9C0D6	FHDC1_HUMAN	L	1020	ENSP00000427567:P1020L;ENSP00000260008:P1020L	ENSP00000260008:P1020L	P	+	2	0	FHDC1	154116952	0.017000	0.18338	0.015000	0.15790	0.053000	0.15095	2.247000	0.43151	2.508000	0.84585	0.655000	0.94253	CCG		0.607	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		28	112	0	0	0	1	0	28	112				
DNAH10	196385	broad.mit.edu	37	12	124311303	124311303	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124311303G>A	ENST00000409039.3	+	24	3920	c.3895G>A	c.(3895-3897)Gaa>Aaa	p.E1299K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1299	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGAAGGAATTGAAGGTTTTCT	0.468																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(3895-3897)Gaa>Aaa		dynein, axonemal, heavy chain 10							145.0	140.0	142.0					12																	124311303		1882	4108	5990	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124311303G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3895G>A	12.37:g.124311303G>A	ENSP00000386770:p.Glu1299Lys						p.E1299K	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	24	3920	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1299			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.3895G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194991	0.78902	.	.	ENSG00000197653	ENST00000409039	T	0.60920	0.15	4.94	4.94	0.65067	Dynein heavy chain, domain-2 (1);	.	.	.	.	T	0.50480	0.1618	L	0.31526	0.94	0.58432	D	0.999996	B	0.26577	0.153	B	0.37731	0.257	T	0.40831	-0.9542	9	0.06625	T	0.88	.	18.5547	0.91080	0.0:0.0:1.0:0.0	.	1299	Q8IVF4	DYH10_HUMAN	K	1299	ENSP00000386770:E1299K	ENSP00000386770:E1299K	E	+	1	0	DNAH10	122877256	1.000000	0.71417	0.104000	0.21259	0.970000	0.65996	9.777000	0.99008	2.445000	0.82738	0.561000	0.74099	GAA		0.468	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			31	189	0	0	0	1	0	31	189				
BTBD2	55643	broad.mit.edu	37	19	1986864	1986864	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1986864G>A	ENST00000255608.4	-	8	1397	c.1381C>T	c.(1381-1383)Ccc>Tcc	p.P461S	AC005306.3_ENST00000587498.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	461						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGACGTTGGGCAGCACCTCC	0.662																																						ENST00000255608.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12						c.(1381-1383)Ccc>Tcc		BTB (POZ) domain containing 2							52.0	53.0	53.0					19																	1986864		2203	4300	6503	SO:0001583	missense	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1986864G>A	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.1381C>T	19.37:g.1986864G>A	ENSP00000255608:p.Pro461Ser						p.P461S	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1397	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	461					O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	37	c.1381C>T	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028368	0.54790	.	.	ENSG00000133243	ENST00000255608	T	0.74632	-0.86	4.7	3.65	0.41850	PHR (1);	0.052626	0.85682	D	0.000000	D	0.85292	0.5663	M	0.79805	2.47	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.87651	0.2528	10	0.72032	D	0.01	-42.9974	14.3327	0.66569	0.0:0.1494:0.8506:0.0	.	461	Q9BX70	BTBD2_HUMAN	S	461	ENSP00000255608:P461S	ENSP00000255608:P461S	P	-	1	0	BTBD2	1937864	1.000000	0.71417	0.956000	0.39512	0.048000	0.14542	9.416000	0.97383	1.308000	0.44962	-0.305000	0.09177	CCC		0.662	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			32	70	0	0	0	1	0	32	70				
MMP16	4325	broad.mit.edu	37	8	89053770	89053770	+	Silent	SNP	A	A	G	rs541234253		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:89053770A>G	ENST00000286614.6	-	10	2024	c.1743T>C	c.(1741-1743)gtT>gtC	p.V581V		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	581					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	ACACAGTGTAAACCAATACAA	0.448																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(1741-1743)gtT>gtC		matrix metallopeptidase 16 (membrane-inserted)							202.0	168.0	179.0					8																	89053770		2203	4300	6503	SO:0001819	synonymous_variant	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89053770A>G	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1743T>C	8.37:g.89053770A>G							p.V581V	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			10	2024	-			581					B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	c.1743T>C	CCDS6246.1																																																																																				0.448	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		35	131	0	0	0	1	0	35	131				
RS1	6247	broad.mit.edu	37	X	18660262	18660262	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:18660262G>A	ENST00000379984.3	-	6	577	c.537C>T	c.(535-537)aaC>aaT	p.N179N	CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	179	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TGCGGTCCGAGTTGCCATAGA	0.577																																						ENST00000379984.3																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15						c.(535-537)aaC>aaT		retinoschisin 1							79.0	69.0	72.0					X																	18660262		2203	4300	6503	SO:0001819	synonymous_variant	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18660262G>A	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.537C>T	X.37:g.18660262G>A						RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	p.N179N	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN			6	577	-	Hepatocellular(33;0.183)		179			F5/8 type C.		Q0QD39	Silent	SNP	ENST00000379984.3	37	c.537C>T	CCDS14187.1																																																																																				0.577	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			7	63	0	0	0	1	0	7	63				
ZNF594	84622	broad.mit.edu	37	17	5087489	5087489	+	Silent	SNP	G	G	A	rs377196284	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:5087489G>A	ENST00000399604.4	-	1	203	c.63C>T	c.(61-63)tcC>tcT	p.S21S	ZNF594_ENST00000575779.1_Silent_p.S21S			Q96JF6	ZN594_HUMAN	zinc finger protein 594	21					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GGAGTTTTTCGGATGCAGCCC	0.383													G|||	4	0.000798722	0.0	0.0	5008	,	,		19056	0.001		0.0	False		,,,				2504	0.0031					ENST00000399604.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(61-63)tcC>tcT		zinc finger protein 594		G		4,3688		0,4,1842	67.0	64.0	65.0		63	0.4	0.0	17		65	0,8172		0,0,4086	no	coding-synonymous	ZNF594	NM_032530.1		0,4,5928	AA,AG,GG		0.0,0.1083,0.0337		21/808	5087489	4,11860	1846	4086	5932	SO:0001819	synonymous_variant	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5087489G>A	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.63C>T	17.37:g.5087489G>A						ZNF594_ENST00000575779.1_Silent_p.S21S	p.S21S			Q96JF6	ZN594_HUMAN			1	203	-			21					Q6RFS0	Silent	SNP	ENST00000399604.4	37	c.63C>T	CCDS42241.1																																																																																				0.383	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		25	57	0	0	0	1	0	25	57				
TM9SF3	56889	broad.mit.edu	37	10	98282044	98282044	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:98282044G>C	ENST00000371142.4	-	15	1962	c.1746C>G	c.(1744-1746)atC>atG	p.I582M		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	582						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		CATTAGTATAGATTTTTCGGA	0.358																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(1744-1746)atC>atG		transmembrane 9 superfamily member 3							114.0	115.0	115.0					10																	98282044		2203	4299	6502	SO:0001583	missense	56889					integral to membrane	binding	g.chr10:98282044G>C	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.1746C>G	10.37:g.98282044G>C	ENSP00000360184:p.Ile582Met						p.I582M	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	15	1962	-		Colorectal(252;0.158)	582					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	ENST00000371142.4	37	c.1746C>G	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366774	0.61513	.	.	ENSG00000077147	ENST00000371142	T	0.64260	-0.09	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.82591	0.5070	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85220	0.1026	10	0.72032	D	0.01	-10.6681	13.0629	0.59018	0.0724:0.0:0.9276:0.0	.	582	Q9HD45	TM9S3_HUMAN	M	582	ENSP00000360184:I582M	ENSP00000360184:I582M	I	-	3	3	TM9SF3	98272034	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.784000	0.75084	2.937000	0.99478	0.650000	0.86243	ATC		0.358	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		12	61	0	0	0	1	0	12	61				
CLEC1B	51266	broad.mit.edu	37	12	10151636	10151636	+	Splice_Site	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:10151636C>T	ENST00000298527.6	-	1	243	c.64G>A	c.(64-66)Gtt>Att	p.V22I	CLEC1B_ENST00000348658.4_Splice_Site_p.A22T|CLEC1B_ENST00000428126.2_Splice_Site_p.A22T	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	22					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						GCATTCTTACCGGAGATGAGA	0.333																																						ENST00000428126.2																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						c.e3+1		C-type lectin domain family 1, member B							183.0	172.0	176.0					12																	10151636		1824	4075	5899	SO:0001630	splice_region_variant	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10151636C>T	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.64+1G>A	12.37:g.10151636C>T						CLEC1B_ENST00000348658.4_Splice_Site_p.A22_splice|CLEC1B_ENST00000298527.6_Splice_Site_p.V22_splice	p.A22_splice			Q9P126	CLC1B_HUMAN			3	333	-			55					Q6UWX7|Q8NHR6	Splice_Site	SNP	ENST00000298527.6	37	c.64_splice	CCDS41752.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.302|4.302	0.055323|0.055323	0.08291|0.08291	.|.	.|.	ENSG00000165682|ENSG00000165682	ENST00000428126;ENST00000348658|ENST00000298527	T;T|T	0.01516|0.01379	4.81;4.81|4.96	5.67|5.67	4.77|4.77	0.60923|0.60923	.|.	.|1.031350	.|0.07732	.|N	.|0.945415	T|T	0.01730|0.01730	0.0055|0.0055	L|L	0.31926|0.31926	0.97|0.97	0.09310|0.09310	N|N	0.999993|0.999993	B|B	0.21147|0.25312	0.052|0.123	B|B	0.21546|0.12837	0.035|0.008	T|T	0.45175|0.45175	-0.9279|-0.9279	8|9	.|.	.|.	.|.	.|.	10.9131|10.9131	0.47120|0.47120	0.0:0.9121:0.0:0.0879|0.0:0.9121:0.0:0.0879	.|.	22|22	Q9P126-2|Q9P126	.|CLC1B_HUMAN	T|I	22|22	ENSP00000406338:A22T;ENSP00000327169:A22T|ENSP00000298527:V22I	.|.	A|V	-|-	1|1	0|0	CLEC1B|CLEC1B	10042903|10042903	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.061000|0.061000	0.15899|0.15899	2.040000|2.040000	0.41203|0.41203	2.677000|2.677000	0.91161|0.91161	0.655000|0.655000	0.94253|0.94253	GCT|GTT		0.333	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509	Missense_Mutation	5	230	0	0	0	1	0	5	230				
GPR176	11245	broad.mit.edu	37	15	40094085	40094085	+	Missense_Mutation	SNP	C	C	T	rs199511698		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:40094085C>T	ENST00000561100.1	-	3	1661	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000560729.1_5'UTR|GPR176_ENST00000299092.3_Missense_Mutation_p.A265T|GPR176_ENST00000543580.1_Missense_Mutation_p.A221T	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	266					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		AGCAGGGTGGCGTGCAGCTCG	0.582											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0014	5008	,	,		21709	0.0		0.0	False		,,,				2504	0.0					ENST00000299092.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23						c.(793-795)Gcc>Acc		G protein-coupled receptor 176		C	THR/ALA	0,4406		0,0,2203	77.0	76.0	76.0		796	5.9	1.0	15		76	1,8599		0,1,4299	yes	missense	GPR176	NM_007223.1	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	266/516	40094085	1,13005	2203	4300	6503	SO:0001583	missense	11245				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr15:40094085C>T	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.796G>A	15.37:g.40094085C>T	ENSP00000453076:p.Ala266Thr		OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	890	GPR176_ENST00000543580.1_Missense_Mutation_p.A221T|GPR176_ENST00000561100.1_Missense_Mutation_p.A266T|GPR176_ENST00000560729.1_5'UTR	p.A265T	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	4	991	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	266					Q6NXF6	Missense_Mutation	SNP	ENST00000561100.1	37	c.793G>A	CCDS10051.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	19.09	3.759188	0.69763	0.0	1.16E-4	ENSG00000166073	ENST00000299092;ENST00000543580	T	0.37235	1.21	5.86	5.86	0.93980	GPCR, rhodopsin-like superfamily (1);	0.097802	0.64402	D	0.000001	T	0.37348	0.1000	L	0.44542	1.39	0.54753	D	0.99998	P	0.50443	0.935	P	0.45167	0.472	T	0.11842	-1.0571	10	0.54805	T	0.06	-32.0053	15.2893	0.73854	0.0:0.9316:0.0:0.0684	.	266	Q14439	GP176_HUMAN	T	266;221	ENSP00000439361:A221T	ENSP00000299092:A266T	A	-	1	0	GPR176	37881377	0.968000	0.33430	1.000000	0.80357	0.998000	0.95712	1.625000	0.37029	2.771000	0.95319	0.563000	0.77884	GCC		0.582	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		4	110	0	0	0	1	0	4	110				
ASPH	444	broad.mit.edu	37	8	62546280	62546280	+	Missense_Mutation	SNP	C	C	T	rs111708484		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:62546280C>T	ENST00000379454.4	-	13	1083	c.896G>A	c.(895-897)aGc>aAc	p.S299N	ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000517903.1_Missense_Mutation_p.S284N|ASPH_ENST00000541428.1_Missense_Mutation_p.S270N|ASPH_ENST00000522835.1_Missense_Mutation_p.S242N|ASPH_ENST00000518068.1_Missense_Mutation_p.S256N|ASPH_ENST00000522919.1_Missense_Mutation_p.S112N|ASPH_ENST00000356457.5_Missense_Mutation_p.S299N|RN7SKP97_ENST00000410966.1_RNA|ASPH_ENST00000445642.3_Missense_Mutation_p.S285N|ASPH_ENST00000517847.2_Missense_Mutation_p.S285N	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	299	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AGGAAAAATGCTTACTTCTAA	0.289																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(808-810)aGc>aAc		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	C	ASN/SER,ASN/SER,ASN/SER,ASN/SER,ASN/SER,ASN/SER,ASN/SER,ASN/SER,ASN/SER	1,4401		0,1,2200	50.0	55.0	53.0		809,851,794,725,839,767,896,896,854	-10.4	0.0	8	dbSNP_132	53	1,8581	1.2+/-3.3	0,1,4290	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	ASPH	NM_001164750.1,NM_001164751.1,NM_001164752.1,NM_001164753.1,NM_001164754.1,NM_001164755.1,NM_004318.3,NM_032466.3,NM_032468.4	46,46,46,46,46,46,46,46,46	0,2,6490	TT,TC,CC		0.0117,0.0227,0.0154	benign,benign,benign,benign,benign,benign,benign,benign,benign	270/730,284/299,265/280,242/257,280/295,256/271,299/759,299/314,285/300	62546280	2,12982	2201	4291	6492	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62546280C>T	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.896G>A	8.37:g.62546280C>T	ENSP00000368767:p.Ser299Asn					ASPH_ENST00000522919.1_Missense_Mutation_p.S112N|ASPH_ENST00000517847.2_Missense_Mutation_p.S285N|ASPH_ENST00000517903.1_Missense_Mutation_p.S284N|ASPH_ENST00000522835.1_Missense_Mutation_p.S242N|ASPH_ENST00000518068.1_Missense_Mutation_p.S256N|ASPH_ENST00000356457.5_Missense_Mutation_p.S299N|ASPH_ENST00000445642.3_Missense_Mutation_p.S285N|ASPH_ENST00000523897.1_5'UTR|ASPH_ENST00000379454.4_Missense_Mutation_p.S299N	p.S270N	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			13	969	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	299			Glu-rich.		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.809G>A	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	C	0.481	-0.880059	0.02530	2.27E-4	1.17E-4	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000522919;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835	T;T;T;T;T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53	5.21	-10.4	0.00318	Aspartyl beta-hydroxylase/Triadin domain (1);	1.873730	0.02280	N	0.069305	T	0.22513	0.0543	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.18310	0.002;0.001;0.002;0.005;0.0;0.001;0.027;0.0;0.002;0.0	B;B;B;B;B;B;B;B;B;B	0.22152	0.003;0.004;0.034;0.038;0.001;0.002;0.016;0.001;0.026;0.001	T	0.33137	-0.9880	10	0.02654	T	1	0.392	11.1075	0.48212	0.0:0.4252:0.3939:0.1809	.	280;242;284;265;270;280;256;299;285;299	B8Y0L3;B4DIC9;B7ZM95;B7ZM96;F5H667;F8W7A9;Q8TB28;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;.;.;.;ASPH_HUMAN	N	280;270;299;112;299;313;256;284;285;285;242	ENSP00000437864:S270N;ENSP00000368767:S299N;ENSP00000430516:S112N;ENSP00000348841:S299N;ENSP00000427823:S313N;ENSP00000429286:S256N;ENSP00000430245:S284N;ENSP00000394013:S285N;ENSP00000429954:S285N;ENSP00000429160:S242N	ENSP00000348841:S299N	S	-	2	0	ASPH	62708834	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.019000	0.00643	-2.275000	0.00679	-0.253000	0.11424	AGC		0.289	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		5	43	0	0	0	1	0	5	43				
FAM71F2	346653	broad.mit.edu	37	7	128315777	128315777	+	Missense_Mutation	SNP	G	G	A	rs562611087		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:128315777G>A	ENST00000480462.1	+	2	335	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	FAM71F2_ENST00000378704.3_Missense_Mutation_p.V68M|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Missense_Mutation_p.V77M			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	77										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GTCTGCCACCGTGATCCTCGG	0.582																																						ENST00000480462.1																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(229-231)Gtg>Atg		family with sequence similarity 71, member F2							56.0	57.0	57.0					7																	128315777		1964	4156	6120	SO:0001583	missense	346653							g.chr7:128315777G>A	BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member B"""	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.229G>A	7.37:g.128315777G>A	ENSP00000420140:p.Val77Met					FAM71F2_ENST00000477515.1_Missense_Mutation_p.V77M|FAM71F2_ENST00000378704.3_Missense_Mutation_p.V68M|FAM71F2_ENST00000460349.1_3'UTR	p.V77M			Q6NXP2	F71F2_HUMAN			2	335	+			77					Q0VGF6|Q0VGF7|Q86X39	Missense_Mutation	SNP	ENST00000480462.1	37	c.229G>A	CCDS47701.1	.	.	.	.	.	.	.	.	.	.	G	4.000	-0.002714	0.07819	.	.	ENSG00000205085	ENST00000474069;ENST00000480462;ENST00000378704;ENST00000434001;ENST00000477515	T;T;T;T;T	0.36699	2.7;2.7;2.7;2.7;1.24	4.67	-0.317	0.12736	.	0.673556	0.12970	N	0.424223	T	0.19406	0.0466	L	0.28556	0.865	0.09310	N	1	B;B	0.34181	0.422;0.44	B;B	0.21151	0.033;0.015	T	0.09207	-1.0685	10	0.32370	T	0.25	-6.2493	7.8121	0.29237	0.3615:0.0:0.6385:0.0	.	68;77	Q6NXP2-2;Q6NXP2	.;F71F2_HUMAN	M	68;77;68;68;77	ENSP00000418907:V68M;ENSP00000420140:V77M;ENSP00000367976:V68M;ENSP00000401654:V68M;ENSP00000419649:V77M	ENSP00000367976:V68M	V	+	1	0	FAM71F2	128103013	0.066000	0.20996	0.033000	0.17914	0.699000	0.40488	0.062000	0.14389	-0.162000	0.10964	-0.484000	0.04775	GTG		0.582	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350537.1			18	39	0	0	0	1	0	18	39				
LDHAL6B	92483	broad.mit.edu	37	15	59499756	59499756	+	Missense_Mutation	SNP	G	G	A	rs151212931	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:59499756G>A	ENST00000307144.4	+	1	715	c.617G>A	c.(616-618)cGt>cAt	p.R206H	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	206					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						CCCAAAAACCGTATTATTGGA	0.423																																						ENST00000307144.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						c.(616-618)cGt>cAt		lactate dehydrogenase A-like 6B	NADH(DB00157)	G	,HIS/ARG	2,4380	4.2+/-10.8	0,2,2189	109.0	112.0	111.0		,617	0.5	0.0	15	dbSNP_134	111	0,8580		0,0,4290	yes	intron,missense	MYO1E,LDHAL6B	NM_004998.2,NM_033195.1	,29	0,2,6479	AA,AG,GG		0.0,0.0456,0.0154	,probably-damaging	,206/382	59499756	2,12960	2191	4290	6481	SO:0001583	missense	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499756G>A	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.617G>A	15.37:g.59499756G>A	ENSP00000302393:p.Arg206His					MYO1E_ENST00000288235.4_Intron	p.R206H	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN			1	715	+			206					Q6DUY4|Q96LI2	Missense_Mutation	SNP	ENST00000307144.4	37	c.617G>A	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073638	0.36566	4.56E-4	0.0	ENSG00000171989	ENST00000307144	D	0.90676	-2.71	1.47	0.463	0.16700	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.079132	0.52532	N	0.000067	D	0.91369	0.7277	M	0.92649	3.33	0.51482	D	0.999925	P	0.39071	0.658	B	0.42138	0.377	D	0.87288	0.2297	10	0.72032	D	0.01	.	5.2778	0.15659	0.2155:0.0:0.7845:0.0	.	206	Q9BYZ2	LDH6B_HUMAN	H	206	ENSP00000302393:R206H	ENSP00000302393:R206H	R	+	2	0	LDHAL6B	57287048	1.000000	0.71417	0.022000	0.16811	0.329000	0.28539	6.111000	0.71541	-0.044000	0.13491	0.305000	0.20034	CGT		0.423	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		66	131	0	0	0	1	0	66	131				
SLC27A5	10998	broad.mit.edu	37	19	59022657	59022657	+	Silent	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:59022657G>T	ENST00000263093.2	-	1	775	c.666C>A	c.(664-666)gcC>gcA	p.A222A	SLC27A5_ENST00000601355.1_Intron	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	222					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CCAGCACCCGGGCCCCAGAGC	0.672																																						ENST00000263093.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(664-666)gcC>gcA		solute carrier family 27 (fatty acid transporter), member 5							16.0	20.0	18.0					19																	59022657		2067	4060	6127	SO:0001819	synonymous_variant	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59022657G>T	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.666C>A	19.37:g.59022657G>T						SLC27A5_ENST00000601355.1_Intron	p.A222A	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	1	775	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	222					B3KVP6|B4DPQ1	Silent	SNP	ENST00000263093.2	37	c.666C>A	CCDS12983.1																																																																																				0.672	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		21	37	1	0	3.6726e-16	1	3.85282e-16	21	37				
A2ML1	144568	broad.mit.edu	37	12	8975929	8975929	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:8975929A>G	ENST00000299698.7	+	2	394	c.214A>G	c.(214-216)Aag>Gag	p.K72E	A2ML1-AS2_ENST00000394240.3_RNA|A2ML1-AS1_ENST00000537288.1_RNA	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CTCTGGACTGAAGAAGAGGCA	0.463																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(214-216)Aag>Gag		alpha-2-macroglobulin-like 1							93.0	93.0	93.0					12																	8975929		1935	4139	6074	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8975929A>G	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.214A>G	12.37:g.8975929A>G	ENSP00000299698:p.Lys72Glu					A2ML1-AS1_ENST00000537288.1_RNA	p.K72E	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			2	394	+			0						Missense_Mutation	SNP	ENST00000299698.7	37	c.214A>G	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	A	4.574	0.106655	0.08780	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	T	0.29917	1.55	4.16	1.69	0.24217	.	0.931487	0.08907	N	0.876370	T	0.14614	0.0353	N	0.17082	0.46	0.09310	N	0.999995	B	0.13145	0.007	B	0.16722	0.016	T	0.34850	-0.9812	10	0.06099	T	0.92	.	4.4011	0.11386	0.695:0.1996:0.1054:0.0	.	72	A8K2U0	A2ML1_HUMAN	E	72	ENSP00000299698:K72E	ENSP00000299698:K72E	K	+	1	0	A2ML1	8867196	0.971000	0.33674	0.127000	0.21898	0.976000	0.68499	1.298000	0.33412	0.354000	0.24105	0.460000	0.39030	AAG		0.463	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		19	89	0	0	0	1	0	19	89				
PIWIL3	440822	broad.mit.edu	37	22	25130079	25130079	+	Missense_Mutation	SNP	C	C	T	rs149915066		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:25130079C>T	ENST00000332271.5	-	14	2095	c.1679G>A	c.(1678-1680)cGg>cAg	p.R560Q	PIWIL3_ENST00000527701.1_Missense_Mutation_p.R451Q|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R451Q|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	560					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGTATATTTCCGTAATGTGTC	0.328																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1678-1680)cGg>cAg		piwi-like RNA-mediated gene silencing 3		C	GLN/ARG	0,4406		0,0,2203	156.0	131.0	139.0		1679	-0.3	0.0	22	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIWIL3	NM_001008496.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	560/883	25130079	1,13005	2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25130079C>T	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1679G>A	22.37:g.25130079C>T	ENSP00000330031:p.Arg560Gln					PIWIL3_ENST00000533313.1_Missense_Mutation_p.R451Q|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.R451Q	p.R560Q	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			14	2095	-			560						Missense_Mutation	SNP	ENST00000332271.5	37	c.1679G>A	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.816826	0.00595	0.0	1.16E-4	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.13901	2.55;2.55;2.55	1.91	-0.349	0.12609	Ribonuclease H-like (1);	0.633137	0.15945	N	0.236989	T	0.04998	0.0134	N	0.10809	0.05	0.09310	N	1	B;B;B	0.24483	0.035;0.098;0.104	B;B;B	0.20767	0.008;0.031;0.008	T	0.43653	-0.9378	10	0.09590	T	0.72	-3.6059	5.5513	0.17091	0.0:0.268:0.0:0.732	.	451;560;560	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	Q	560;451;451	ENSP00000330031:R560Q;ENSP00000431843:R451Q;ENSP00000435718:R451Q	ENSP00000330031:R560Q	R	-	2	0	PIWIL3	23460079	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.400000	0.20932	-0.146000	0.11274	-0.266000	0.10368	CGG		0.328	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		12	32	0	0	0	1	0	12	32				
RGS22	26166	broad.mit.edu	37	8	101084391	101084391	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:101084391T>A	ENST00000360863.6	-	5	601	c.407A>T	c.(406-408)gAt>gTt	p.D136V	RGS22_ENST00000523437.1_Missense_Mutation_p.D136V|RGS22_ENST00000523287.1_Intron	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	136					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAAGTAACAATCACTTTCCAG	0.338																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(406-408)gAt>gTt		regulator of G-protein signaling 22							116.0	104.0	108.0					8																	101084391		1811	4076	5887	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101084391T>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.407A>T	8.37:g.101084391T>A	ENSP00000354109:p.Asp136Val					RGS22_ENST00000523437.1_Missense_Mutation_p.D136V|RGS22_ENST00000523287.1_Intron	p.D136V	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		5	601	-			136					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.407A>T	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.974150	0.74246	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523437;ENST00000520117;ENST00000519092;ENST00000519408	T;T	0.64803	-0.12;-0.12	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.79161	0.4399	M	0.74258	2.255	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81848	-0.0744	10	0.87932	D	0	.	15.9148	0.79503	0.0:0.0:0.0:1.0	.	136;136	A8K944;Q8NE09	.;RGS22_HUMAN	V	136;136;136;55;40;40	ENSP00000354109:D136V;ENSP00000428212:D136V	ENSP00000354109:D136V	D	-	2	0	RGS22	101153567	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.384000	0.73177	2.226000	0.72624	0.482000	0.46254	GAT		0.338	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		14	73	0	0	0	1	0	14	73				
SLC43A2	124935	broad.mit.edu	37	17	1518310	1518310	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:1518310G>A	ENST00000301335.5	-	4	475	c.387C>T	c.(385-387)tcC>tcT	p.S129S	snoU13_ENST00000459614.1_RNA|SLC43A2_ENST00000571650.1_Silent_p.S129S|SLC43A2_ENST00000382147.4_Silent_p.S129S	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	129					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TCAGCAAGCAGGAAACCGCGA	0.468																																						ENST00000571650.1																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(385-387)tcC>tcT		solute carrier family 43 (amino acid system L transporter), member 2							110.0	93.0	99.0					17																	1518310		2202	4300	6502	SO:0001819	synonymous_variant	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1518310G>A	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.387C>T	17.37:g.1518310G>A						SLC43A2_ENST00000301335.4_Silent_p.S129S|SLC43A2_ENST00000382147.4_Silent_p.S129S	p.S129S			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	4	693	-			129					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Silent	SNP	ENST00000301335.5	37	c.387C>T	CCDS11006.1																																																																																				0.468	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		9	42	0	0	0	1	0	9	42				
ARHGAP39	80728	broad.mit.edu	37	8	145773100	145773100	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145773100C>T	ENST00000276826.5	-	4	1571	c.1370G>A	c.(1369-1371)cGg>cAg	p.R457Q	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R457Q|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R457Q|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	457					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CTGGCTGTGCCGCAGCTCAGG	0.687																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1369-1371)cGg>cAg		Rho GTPase activating protein 39							21.0	22.0	21.0					8																	145773100		2193	4293	6486	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773100C>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1370G>A	8.37:g.145773100C>T	ENSP00000276826:p.Arg457Gln					ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R457Q|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R457Q	p.R457Q			Q9C0H5	RHG39_HUMAN			4	1571	-			457					B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.1370G>A		.	.	.	.	.	.	.	.	.	.	C	11.02	1.516778	0.27123	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.73152	-0.72;-0.45;-0.72	4.91	4.91	0.64330	.	0.303925	0.33180	N	0.005185	T	0.68128	0.2967	M	0.62723	1.935	0.32616	N	0.52402	B;B	0.13145	0.007;0.007	B;B	0.08055	0.001;0.003	T	0.71896	-0.4454	10	0.39692	T	0.17	-4.3721	15.5878	0.76499	0.0:1.0:0.0:0.0	.	457;457	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	Q	457	ENSP00000276826:R457Q;ENSP00000366522:R457Q;ENSP00000445075:R457Q	ENSP00000276826:R457Q	R	-	2	0	ARHGAP39	145743908	0.951000	0.32395	0.625000	0.29200	0.150000	0.21749	2.009000	0.40903	2.279000	0.76181	0.655000	0.94253	CGG		0.687	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			7	22	0	0	0	1	0	7	22				
FBN2	2201	broad.mit.edu	37	5	127647003	127647003	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:127647003C>T	ENST00000508053.1	-	45	6037	c.5063G>A	c.(5062-5064)cGc>cAc	p.R1688H	FBN2_ENST00000262464.4_Missense_Mutation_p.R1688H			P35556	FBN2_HUMAN	fibrillin 2	1688	EGF-like 27; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTCACAGATGCGGGTATCCTC	0.502																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(5062-5064)cGc>cAc		fibrillin 2							72.0	59.0	63.0					5																	127647003		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127647003C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5063G>A	5.37:g.127647003C>T	ENSP00000424571:p.Arg1688His					FBN2_ENST00000262464.4_Missense_Mutation_p.R1688H	p.R1688H			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	45	6037	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1688			EGF-like 27; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.5063G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	33	5.288046	0.95517	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92048	-2.96;-2.96	5.55	5.55	0.83447	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000007	D	0.94647	0.8274	L	0.52011	1.625	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.91930	0.5554	10	0.22706	T	0.39	.	19.7069	0.96076	0.0:1.0:0.0:0.0	.	1688	P35556	FBN2_HUMAN	H	1688	ENSP00000262464:R1688H;ENSP00000424571:R1688H	ENSP00000262464:R1688H	R	-	2	0	FBN2	127674902	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.609000	0.82925	2.894000	0.99253	0.591000	0.81541	CGC		0.502	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		8	44	0	0	0	1	0	8	44				
DIDO1	11083	broad.mit.edu	37	20	61513014	61513014	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:61513014T>C	ENST00000266070.4	-	16	4619	c.4294A>G	c.(4294-4296)Acc>Gcc	p.T1432A	DIDO1_ENST00000395343.1_Missense_Mutation_p.T1432A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1432					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTAAGATGGTCTCATCCTCG	0.617																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4294-4296)Acc>Gcc		death inducer-obliterator 1							99.0	108.0	105.0					20																	61513014		2203	4299	6502	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513014T>C	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4294A>G	20.37:g.61513014T>C	ENSP00000266070:p.Thr1432Ala					DIDO1_ENST00000395343.1_Missense_Mutation_p.T1432A	p.T1432A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	4619	-	Breast(26;5.68e-08)		1432					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4294A>G	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935691	0.52972	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.12147	2.71;2.71	5.8	5.8	0.92144	.	0.000000	0.44285	D	0.000463	T	0.34890	0.0913	M	0.76838	2.35	0.39067	D	0.960633	D	0.62365	0.991	P	0.58820	0.846	T	0.15378	-1.0439	10	0.38643	T	0.18	-34.5571	16.1549	0.81657	0.0:0.0:0.0:1.0	.	1432	Q9BTC0	DIDO1_HUMAN	A	1432	ENSP00000266070:T1432A;ENSP00000378752:T1432A	ENSP00000266070:T1432A	T	-	1	0	DIDO1	60983459	1.000000	0.71417	0.994000	0.49952	0.045000	0.14185	3.817000	0.55668	2.209000	0.71365	0.533000	0.62120	ACC		0.617	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		8	269	0	0	0	1	0	8	269				
ANKH	56172	broad.mit.edu	37	5	14756037	14756037	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:14756037C>T	ENST00000284268.6	-	4	779	c.449G>A	c.(448-450)gGc>gAc	p.G150D	ANKH_ENST00000503939.1_5'Flank	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	150					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TAAGAGAATGCCAGCATGGGT	0.438																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(448-450)gGc>gAc		ANKH inorganic pyrophosphate transport regulator							123.0	109.0	114.0					5																	14756037		2203	4300	6503	SO:0001583	missense	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14756037C>T	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.449G>A	5.37:g.14756037C>T	ENSP00000284268:p.Gly150Asp						p.G150D	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			4	779	-			150					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	c.449G>A	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752981	0.89753	.	.	ENSG00000154122	ENST00000284268	D	0.96830	-4.14	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.97645	0.9228	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98607	1.0661	10	0.87932	D	0	-22.639	17.4883	0.87694	0.0:1.0:0.0:0.0	.	150	Q9HCJ1	ANKH_HUMAN	D	150	ENSP00000284268:G150D	ENSP00000284268:G150D	G	-	2	0	ANKH	14809037	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.609000	0.82925	2.364000	0.80123	0.462000	0.41574	GGC		0.438	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		4	76	0	0	0	1	0	4	76				
KIAA1109	84162	broad.mit.edu	37	4	123195575	123195575	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:123195575A>G	ENST00000264501.4	+	49	8897	c.8524A>G	c.(8524-8526)Att>Gtt	p.I2842V	KIAA1109_ENST00000455637.1_Missense_Mutation_p.I2842V|KIAA1109_ENST00000388738.3_Missense_Mutation_p.I2842V			Q2LD37	K1109_HUMAN	KIAA1109	2842					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						GCTTGAAGGGATTACACCAAA	0.299																																						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.(8524-8526)Att>Gtt		KIAA1109							131.0	122.0	125.0					4																	123195575		1823	4063	5886	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123195575A>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.8524A>G	4.37:g.123195575A>G	ENSP00000264501:p.Ile2842Val					KIAA1109_ENST00000455637.1_Missense_Mutation_p.I2842V|KIAA1109_ENST00000388738.3_Missense_Mutation_p.I2842V	p.I2842V			Q2LD37	K1109_HUMAN			49	8897	+			2842					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.8524A>G	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.03|12.03	1.815494|1.815494	0.32145|0.32145	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000419325|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.20332	.|2.67;2.67;2.08	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.22437|0.22437	0.0541|0.0541	N|N	0.05441|0.05441	-0.05|-0.05	0.45822|0.45822	D|D	0.998697|0.998697	.|P;P;P	.|0.48640	.|0.65;0.876;0.913	.|P;D;P	.|0.64595	.|0.743;0.927;0.891	T|T	0.04579|0.04579	-1.0941|-1.0941	5|10	.|0.02654	.|T	.|1	.|.	16.4696|16.4696	0.84102|0.84102	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|2842;2841;2842	.|Q2LD37-6;Q2LD37-2;Q2LD37	.|.;.;K1109_HUMAN	G|V	799|2842	.|ENSP00000264501:I2842V;ENSP00000373390:I2842V;ENSP00000389925:I2842V	.|ENSP00000264501:I2842V	D|I	+|+	2|1	0|0	KIAA1109|KIAA1109	123415025|123415025	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.994000|0.994000	0.84299|0.84299	8.477000|8.477000	0.90424|0.90424	2.289000|2.289000	0.77006|0.77006	0.482000|0.482000	0.46254|0.46254	GAT|ATT		0.299	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		14	62	0	0	0	1	0	14	62				
IFNA2	3440	broad.mit.edu	37	9	21385105	21385105	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:21385105G>C	ENST00000380206.2	-	1	291	c.224C>G	c.(223-225)aCc>aGc	p.T75S		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	75					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	type I interferon receptor binding (GO:0005132)			breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		GACAGGGATGGTTTCAGCCTT	0.478																																						ENST00000380206.2																			0				breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13						c.(223-225)aCc>aGc		interferon, alpha 2	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						132.0	128.0	129.0					9																	21385105		2203	4300	6503	SO:0001583	missense	3440				blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21385105G>C		CCDS6506.1	9p22	2010-08-24			ENSG00000188379	ENSG00000188379		"""Interferons"""	5423	protein-coding gene	gene with protein product	"""alpha-2a interferon"", ""interferon alpha 2b"", ""interferon alpha A"""	147562				1385305	Standard	NM_000605		Approved	IFNA, IFN-alphaA	uc003zpb.3	P01563	OTTHUMG00000019674	ENST00000380206.2:c.224C>G	9.37:g.21385105G>C	ENSP00000369554:p.Thr75Ser						p.T75S	NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	1	291	-			75					H2DF54|H2DF55|P01564|Q14606|Q6DJX8|Q96KI6	Missense_Mutation	SNP	ENST00000380206.2	37	c.224C>G	CCDS6506.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975555	0.34848	.	.	ENSG00000188379	ENST00000380206	T	0.03358	3.96	3.24	3.24	0.37175	.	0.906627	0.09540	N	0.788418	T	0.04634	0.0126	L	0.29908	0.895	0.09310	N	1	B	0.14012	0.009	B	0.23574	0.047	T	0.34104	-0.9842	10	0.72032	D	0.01	.	11.4477	0.50134	0.0:0.0:1.0:0.0	.	75	Q6DJX8	.	S	75	ENSP00000369554:T75S	ENSP00000369554:T75S	T	-	2	0	IFNA2	21375105	0.001000	0.12720	0.003000	0.11579	0.210000	0.24377	0.847000	0.27696	1.648000	0.50643	0.484000	0.47621	ACC		0.478	IFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051903.1	NM_000605		6	211	0	0	0	1	0	6	211				
CLUAP1	23059	broad.mit.edu	37	16	3554830	3554830	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3554830A>G	ENST00000576634.1	+	2	277	c.133A>G	c.(133-135)Aga>Gga	p.R45G	CLUAP1_ENST00000571025.1_Splice_Site_p.R45G|CLUAP1_ENST00000341633.5_Splice_Site_p.R45G|LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000417763.2_5'UTR	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	45					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						GCTTGTGAAAAGGTTCGAACG	0.408																																						ENST00000571025.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						c.e2+1		clusterin associated protein 1							90.0	87.0	88.0					16																	3554830		2197	4300	6497	SO:0001630	splice_region_variant	23059					nucleus	protein binding	g.chr16:3554830A>G	BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.134+1A>G	16.37:g.3554830A>G						LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000417763.2_5'UTR|CLUAP1_ENST00000341633.5_Splice_Site_p.R45_splice|CLUAP1_ENST00000576634.1_Splice_Site_p.R45_splice	p.R45_splice			Q96AJ1	CLUA1_HUMAN			2	183	+			45					O75138|Q65ZA3|Q9H8R4|Q9H8T1	Splice_Site	SNP	ENST00000576634.1	37	c.134_splice	CCDS32381.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.563691	0.65651	.	.	ENSG00000103351	ENST00000341633	T	0.52057	0.68	5.34	3.0	0.34707	.	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	M	0.89601	3.045	0.80722	D	1	D	0.60160	0.987	D	0.66979	0.948	T	0.66646	-0.5871	10	0.72032	D	0.01	-19.1162	6.2402	0.20787	0.5067:0.3429:0.0:0.1503	.	45	Q96AJ1	CLUA1_HUMAN	G	45	ENSP00000344392:R45G	ENSP00000344392:R45G	R	+	1	2	CLUAP1	3494831	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.548000	0.67255	0.296000	0.22592	0.533000	0.62120	AGA		0.408	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793	Missense_Mutation	10	43	0	0	0	1	0	10	43				
IL17RA	23765	broad.mit.edu	37	22	17589746	17589746	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:17589746G>A	ENST00000319363.6	+	13	1770	c.1637G>A	c.(1636-1638)cGc>cAc	p.R546H		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	546					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CAGCCGGGCCGCATGCACCGC	0.706																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(1636-1638)cGc>cAc		interleukin 17 receptor A							21.0	19.0	20.0					22																	17589746		2195	4293	6488	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17589746G>A	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1637G>A	22.37:g.17589746G>A	ENSP00000320936:p.Arg546His						p.R546H	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	13	1770	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	546					O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.1637G>A	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.074890	0.76415	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.07327	3.2	4.96	2.87	0.33458	.	0.242372	0.34932	N	0.003569	T	0.22898	0.0553	M	0.74881	2.28	0.25152	N	0.990414	D;D	0.89917	1.0;0.998	P;P	0.61275	0.886;0.763	T	0.02877	-1.1099	10	0.66056	D	0.02	-32.8276	10.9766	0.47469	0.1521:0.0:0.8479:0.0	.	494;546	D3YTB4;Q96F46	.;I17RA_HUMAN	H	494;546	ENSP00000320936:R546H	ENSP00000320936:R546H	R	+	2	0	IL17RA	15969746	0.990000	0.36364	0.994000	0.49952	0.906000	0.53458	2.016000	0.40971	0.612000	0.30071	0.457000	0.33378	CGC		0.706	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		4	10	0	0	0	1	0	4	10				
CCND2	894	broad.mit.edu	37	12	4398027	4398027	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:4398027C>G	ENST00000261254.3	+	4	860	c.591C>G	c.(589-591)taC>taG	p.Y197*		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	197					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			TTGCCATGTACCCACCGTCGA	0.542			T	IGL@	"""NHL,CLL"""																																	ENST00000261254.3				Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		"""NHL,CLL"""		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(589-591)taC>taG		cyclin D2							187.0	167.0	174.0					12																	4398027		2203	4300	6503	SO:0001587	stop_gained	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4398027C>G	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.591C>G	12.37:g.4398027C>G	ENSP00000261254:p.Tyr197*						p.Y197*	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		4	860	+			197					A8K531|Q13955|Q5U035	Nonsense_Mutation	SNP	ENST00000261254.3	37	c.591C>G	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	C	37	6.500597	0.97616	.	.	ENSG00000118971	ENST00000261254	.	.	.	5.4	0.41	0.16387	.	0.053183	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7143	0.40265	0.0:0.6564:0.0:0.3436	.	.	.	.	X	197	.	ENSP00000261254:Y197X	Y	+	3	2	CCND2	4268288	0.987000	0.35691	0.999000	0.59377	0.988000	0.76386	0.315000	0.19451	0.082000	0.17018	0.655000	0.94253	TAC		0.542	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		49	201	0	0	0	1	0	49	201				
AGO4	192670	broad.mit.edu	37	1	36316458	36316458	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:36316458A>G	ENST00000373210.3	+	17	2526	c.2281A>G	c.(2281-2283)Acc>Gcc	p.T761A	AGO4_ENST00000488778.1_3'UTR	NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	761	Piwi. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										TCCTCAGGGAACCAGCCGTCC	0.403																																						ENST00000373210.3																			0											c.(2281-2283)Acc>Gcc		argonaute RISC catalytic component 4							91.0	81.0	85.0					1																	36316458		2203	4300	6503	SO:0001583	missense	192670							g.chr1:36316458A>G	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.2281A>G	1.37:g.36316458A>G	ENSP00000362306:p.Thr761Ala					AGO4_ENST00000488778.1_3'UTR	p.T761A	NM_017629.3	NP_060099.2					17	2526	+								A7MD27	Missense_Mutation	SNP	ENST00000373210.3	37	c.2281A>G	CCDS397.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.015338	0.75161	.	.	ENSG00000134698	ENST00000373210	T	0.50548	0.74	5.22	5.22	0.72569	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.80571	0.4648	H	0.98407	4.225	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	D	0.88443	0.3043	10	0.87932	D	0	-10.8675	15.1133	0.72375	1.0:0.0:0.0:0.0	.	761	Q9HCK5	AGO4_HUMAN	A	761	ENSP00000362306:T761A	ENSP00000362306:T761A	T	+	1	0	EIF2C4	36089045	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.335000	0.96500	1.958000	0.56883	0.482000	0.46254	ACC		0.403	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		29	72	0	0	0	1	0	29	72				
JPH1	56704	broad.mit.edu	37	8	75227813	75227813	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:75227813T>C	ENST00000342232.4	-	2	462	c.422A>G	c.(421-423)tAc>tGc	p.Y141C		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	141	Gly-rich.				calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCGCACGCCGTAGCCATGCCG	0.682																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(421-423)tAc>tGc		junctophilin 1							24.0	23.0	23.0					8																	75227813		2082	4089	6171	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227813T>C	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.422A>G	8.37:g.75227813T>C	ENSP00000344488:p.Tyr141Cys						p.Y141C	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	462	-	Breast(64;0.00576)		141			Gly-rich.		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.422A>G	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925062	0.73213	.	.	ENSG00000104369	ENST00000342232	T	0.56776	0.44	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.68933	0.3055	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	T	0.72520	-0.4268	10	0.56958	D	0.05	.	13.8092	0.63252	0.0:0.0:0.0:1.0	.	141	Q9HDC5	JPH1_HUMAN	C	141	ENSP00000344488:Y141C	ENSP00000344488:Y141C	Y	-	2	0	JPH1	75390368	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.765000	0.85310	1.844000	0.53588	0.460000	0.39030	TAC		0.682	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			12	52	0	0	0	1	0	12	52				
OR4K14	122740	broad.mit.edu	37	14	20482639	20482639	+	Silent	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:20482639G>T	ENST00000305045.2	-	1	713	c.714C>A	c.(712-714)ctC>ctA	p.L238L		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGCAAGTGGAGAGTGCTTTGG	0.512																																						ENST00000305045.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37						c.(712-714)ctC>ctA		olfactory receptor, family 4, subfamily K, member 14							111.0	90.0	97.0					14																	20482639		2203	4300	6503	SO:0001819	synonymous_variant	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20482639G>T		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.714C>A	14.37:g.20482639G>T							p.L238L	NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	713	-	all_cancers(95;0.00108)		238					Q6IEU1|Q96R71	Silent	SNP	ENST00000305045.2	37	c.714C>A	CCDS32027.1																																																																																				0.512	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			13	49	1	0	5.50884e-06	1	5.63245e-06	13	49				
PLK1	5347	broad.mit.edu	37	16	23701352	23701352	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:23701352C>T	ENST00000300093.4	+	10	1891	c.1780C>T	c.(1780-1782)Cgc>Tgc	p.R594C	CTD-2196E14.5_ENST00000566143.1_RNA	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	594					activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GCTGAGCTCACGCTCGGCCAG	0.647																																					Colon(12;240 564 27038 33155)	ENST00000300093.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1780-1782)Cgc>Tgc		polo-like kinase 1							52.0	49.0	50.0					16																	23701352		2197	4300	6497	SO:0001583	missense	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23701352C>T		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.1780C>T	16.37:g.23701352C>T	ENSP00000300093:p.Arg594Cys						p.R594C	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	10	1891	+			594					Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.1780C>T	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954399	0.53293	.	.	ENSG00000166851	ENST00000300093;ENST00000425844	T	0.67523	-0.27	5.14	4.12	0.48240	.	0.058893	0.64402	D	0.000010	T	0.51517	0.1679	L	0.38531	1.155	0.40327	D	0.978887	D	0.69078	0.997	B	0.39299	0.296	T	0.58381	-0.7646	10	0.52906	T	0.07	-26.6681	9.6204	0.39719	0.3524:0.6476:0.0:0.0	.	594	P53350	PLK1_HUMAN	C	594;497	ENSP00000300093:R594C	ENSP00000300093:R594C	R	+	1	0	PLK1	23608853	0.702000	0.27816	0.931000	0.37212	0.711000	0.40976	1.251000	0.32862	2.377000	0.81083	0.561000	0.74099	CGC		0.647	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		22	59	0	0	0	1	0	22	59				
NFATC2	4773	broad.mit.edu	37	20	50139950	50139950	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:50139950G>A	ENST00000396009.3	-	2	1049	c.830C>T	c.(829-831)cCg>cTg	p.P277L	NFATC2_ENST00000371564.3_Missense_Mutation_p.P277L|NFATC2_ENST00000609943.1_Missense_Mutation_p.P257L|NFATC2_ENST00000610033.1_Missense_Mutation_p.P58L|NFATC2_ENST00000609507.1_Missense_Mutation_p.P58L|NFATC2_ENST00000414705.1_Missense_Mutation_p.P257L	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	277	3 X approximate SP repeats.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGAGGGCTGCGGCGAGGGGCT	0.711																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(829-831)cCg>cTg		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							9.0	12.0	11.0					20																	50139950		2159	4224	6383	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50139950G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.830C>T	20.37:g.50139950G>A	ENSP00000379330:p.Pro277Leu					NFATC2_ENST00000396009.3_Missense_Mutation_p.P277L|NFATC2_ENST00000414705.1_Missense_Mutation_p.P257L	p.P277L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			2	1049	-	Hepatocellular(150;0.248)		277			3 X approximate SP repeats.		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.830C>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469170	0.84533	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	D;D;D	0.87103	-2.21;-2.21;-2.21	5.43	5.43	0.79202	.	0.054203	0.85682	D	0.000000	D	0.93959	0.8066	M	0.80332	2.49	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.94421	0.7641	10	0.87932	D	0	-15.878	19.2362	0.93861	0.0:0.0:1.0:0.0	.	257;257;277;277	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	L	277;277;58;257	ENSP00000360619:P277L;ENSP00000379330:P277L;ENSP00000396471:P257L	ENSP00000360619:P277L	P	-	2	0	NFATC2	49573357	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	6.125000	0.71627	2.546000	0.85860	0.313000	0.20887	CCG		0.711	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		7	27	0	0	0	1	0	7	27				
BTBD8	284697	broad.mit.edu	37	1	92568216	92568216	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:92568216C>T	ENST00000342818.3	+	3	770	c.534C>T	c.(532-534)ttC>ttT	p.F178F	BTBD8_ENST00000370382.3_Silent_p.F178F|BTBD8_ENST00000540648.1_Silent_p.F178F	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	178						nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		ATGATGATTTCATTTCCAATG	0.323																																						ENST00000370382.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16						c.(532-534)ttC>ttT		BTB (POZ) domain containing 8							65.0	62.0	63.0					1																	92568216		2203	4299	6502	SO:0001819	synonymous_variant	284697					nucleus		g.chr1:92568216C>T	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.534C>T	1.37:g.92568216C>T						BTBD8_ENST00000540648.1_Silent_p.F178F|BTBD8_ENST00000342818.3_Silent_p.F178F	p.F178F			Q5XKL5	BTBD8_HUMAN		all cancers(265;0.0153)|Epithelial(280;0.0982)	3	801	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)	178					Q6V9S5	Silent	SNP	ENST00000342818.3	37	c.534C>T	CCDS737.1																																																																																				0.323	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		12	49	0	0	0	1	0	12	49				
HSPA9	3313	broad.mit.edu	37	5	137902705	137902705	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:137902705C>A	ENST00000297185.3	-	8	989	c.864G>T	c.(862-864)aaG>aaT	p.K288N	HSPA9_ENST00000501917.2_5'Flank	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	288					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCTTGAACTCCTTCACAATGT	0.413																																						ENST00000297185.3																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28						c.(862-864)aaG>aaT		heat shock 70kDa protein 9 (mortalin)							154.0	161.0	159.0					5																	137902705		2203	4300	6503	SO:0001583	missense	3313				anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	g.chr5:137902705C>A	L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.864G>T	5.37:g.137902705C>A	ENSP00000297185:p.Lys288Asn						p.K288N	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		8	989	-			288					B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Missense_Mutation	SNP	ENST00000297185.3	37	c.864G>T	CCDS4208.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.603299	0.28534	.	.	ENSG00000113013	ENST00000297185;ENST00000541333;ENST00000540484	T	0.30714	1.52	5.2	3.33	0.38152	.	0.043668	0.85682	D	0.000000	T	0.20129	0.0484	L	0.28115	0.83	0.58432	D	0.999997	B;B	0.12013	0.001;0.005	B;B	0.14578	0.008;0.011	T	0.04140	-1.0974	10	0.42905	T	0.14	-11.1022	8.4648	0.32949	0.0:0.6853:0.0:0.3147	.	219;288	B7Z1V7;P38646	.;GRP75_HUMAN	N	288;241;274	ENSP00000297185:K288N	ENSP00000297185:K288N	K	-	3	2	HSPA9	137930604	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.906000	0.28517	0.614000	0.30107	-0.345000	0.07892	AAG		0.413	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1	NM_004134		47	168	1	0	1.83081e-24	1	1.93732e-24	47	168				
RAB11FIP3	9727	broad.mit.edu	37	16	570491	570491	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:570491G>A	ENST00000262305.4	+	13	2437	c.2049G>A	c.(2047-2049)gaG>gaA	p.E683E	RAB11FIP3_ENST00000457159.1_Silent_p.E728E|RAB11FIP3_ENST00000450428.1_Silent_p.E387E	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	683					cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				AGAACGAGGAGCTGAACGGGC	0.602																																					Melanoma(160;2366 2595 4474 8099)	ENST00000262305.4																			0				breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12						c.(2047-2049)gaG>gaA		RAB11 family interacting protein 3 (class II)							157.0	136.0	143.0					16																	570491		2201	4300	6501	SO:0001819	synonymous_variant	9727				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr16:570491G>A	AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.2049G>A	16.37:g.570491G>A						RAB11FIP3_ENST00000457159.1_Silent_p.E728E|RAB11FIP3_ENST00000450428.1_Silent_p.E387E	p.E683E	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN			13	2437	+		Hepatocellular(16;0.0218)	683					B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Silent	SNP	ENST00000262305.4	37	c.2049G>A	CCDS32351.1																																																																																				0.602	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		5	115	0	0	0	1	0	5	115				
EML5	161436	broad.mit.edu	37	14	89087643	89087643	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:89087643G>A	ENST00000380664.5	-	36	4991	c.4992C>T	c.(4990-4992)ggC>ggT	p.G1664G	EML5_ENST00000352093.5_Silent_p.G1626G|EML5_ENST00000553320.1_5'UTR|EML5_ENST00000554922.1_Silent_p.G1672G			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1664						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAAGGATCTTGCCCTGAAACA	0.388																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5014-5016)ggC>ggT		echinoderm microtubule associated protein like 5							137.0	131.0	133.0					14																	89087643		1880	4113	5993	SO:0001819	synonymous_variant	161436					cytoplasm|microtubule		g.chr14:89087643G>A	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.4992C>T	14.37:g.89087643G>A						EML5_ENST00000553320.1_5'UTR|EML5_ENST00000380664.5_Silent_p.G1664G|EML5_ENST00000352093.5_Silent_p.G1626G	p.G1672G	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			38	5264	-			1664					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	c.5016C>T	CCDS45148.1																																																																																				0.388	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			49	140	0	0	0	1	0	49	140				
ARHGAP33	115703	broad.mit.edu	37	19	36271695	36271695	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:36271695A>G	ENST00000007510.4	+	10	950	c.806A>G	c.(805-807)cAg>cGg	p.Q269R	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.Q269R|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.Q133R			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	269					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCGGCTCCCCAGGGTATCTCG	0.627																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(805-807)cAg>cGg		Rho GTPase activating protein 33							58.0	64.0	62.0					19																	36271695		2203	4300	6503	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36271695A>G	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.806A>G	19.37:g.36271695A>G	ENSP00000007510:p.Gln269Arg					ARHGAP33_ENST00000378944.5_Missense_Mutation_p.Q133R|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.Q269R	p.Q269R			O14559	RHG33_HUMAN			10	950	+			269					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.806A>G		.	.	.	.	.	.	.	.	.	.	A	14.79	2.641662	0.47153	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.28255	1.62;1.62;1.62	5.32	5.32	0.75619	.	0.185730	0.32258	N	0.006355	T	0.15262	0.0368	N	0.08118	0	0.29456	N	0.858142	B;B	0.27192	0.171;0.018	B;B	0.29267	0.1;0.023	T	0.13229	-1.0517	10	0.25106	T	0.35	.	7.9101	0.29785	0.9079:0.0:0.092:0.0	.	133;269	O14559-10;O14559-11	.;.	R	269;269;133	ENSP00000007510:Q269R;ENSP00000320038:Q269R;ENSP00000368227:Q133R	ENSP00000007510:Q269R	Q	+	2	0	ARHGAP33	40963535	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	2.449000	0.44935	2.018000	0.59344	0.459000	0.35465	CAG		0.627	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		31	115	0	0	0	1	0	31	115				
DET1	55070	broad.mit.edu	37	15	89073994	89073994	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:89073994C>T	ENST00000268148.8	-	2	1088	c.943G>A	c.(943-945)Gcc>Acc	p.A315T	DET1_ENST00000559656.1_5'Flank|DET1_ENST00000564406.1_Missense_Mutation_p.A326T|DET1_ENST00000444300.1_Missense_Mutation_p.A326T	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	315						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CGCCTCTTGGCCATTGCACTA	0.493																																						ENST00000564406.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(976-978)Gcc>Acc		de-etiolated homolog 1 (Arabidopsis)							43.0	45.0	45.0					15																	89073994		1929	4119	6048	SO:0001583	missense	55070					nucleus		g.chr15:89073994C>T	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.943G>A	15.37:g.89073994C>T	ENSP00000268148:p.Ala315Thr					DET1_ENST00000268148.8_Missense_Mutation_p.A315T|DET1_ENST00000444300.1_Missense_Mutation_p.A326T	p.A326T	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		3	1136	-	Lung NSC(78;0.105)|all_lung(78;0.182)		315					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.976G>A	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062623	0.93898	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	6.17	6.17	0.99709	.	0.151864	0.64402	D	0.000017	T	0.66177	0.2763	M	0.68593	2.085	0.80722	D	1	P;P	0.35793	0.521;0.521	B;B	0.38378	0.272;0.272	T	0.62779	-0.6782	9	0.36615	T	0.2	-42.2459	19.8676	0.96824	0.0:1.0:0.0:0.0	.	315;326	Q7L5Y6;B3KNN6	DET1_HUMAN;.	T	326;315	.	ENSP00000268148:A315T	A	-	1	0	DET1	86874998	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.097000	0.76967	2.941000	0.99782	0.655000	0.94253	GCC		0.493	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		6	27	0	0	0	1	0	6	27				
ELMO2	63916	broad.mit.edu	37	20	45022217	45022217	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:45022217T>C	ENST00000290246.6	-	5	337	c.143A>G	c.(142-144)tAt>tGt	p.Y48C	ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.Y48C|ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.Y48C|ELMO2_ENST00000439931.2_Missense_Mutation_p.Y48C	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	48					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GAGGGTATAATACTCTGGGTT	0.438																																						ENST00000290246.6																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(142-144)tAt>tGt		engulfment and cell motility 2							195.0	186.0	189.0					20																	45022217		2203	4300	6503	SO:0001583	missense	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45022217T>C	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.143A>G	20.37:g.45022217T>C	ENSP00000290246:p.Tyr48Cys					ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.Y48C|ELMO2_ENST00000396391.1_Missense_Mutation_p.Y48C|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000439931.2_Missense_Mutation_p.Y48C	p.Y48C	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN			5	337	-		Myeloproliferative disorder(115;0.0122)	48					E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.143A>G	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.083774	0.36758	.	.	ENSG00000062598	ENST00000290246;ENST00000396391;ENST00000439931;ENST00000352077;ENST00000450812	T;T;T;T;T	0.22336	2.56;2.56;2.56;2.56;1.96	4.56	4.56	0.56223	.	0.129725	0.53938	D	0.000047	T	0.20170	0.0485	L	0.47716	1.5	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.02829	-1.1105	10	0.38643	T	0.18	-14.0133	13.2554	0.60076	0.0:0.0:0.0:1.0	.	48;48	B4DRL5;Q96JJ3	.;ELMO2_HUMAN	C	48	ENSP00000290246:Y48C;ENSP00000379673:Y48C;ENSP00000396519:Y48C;ENSP00000326172:Y48C;ENSP00000416181:Y48C	ENSP00000290246:Y48C	Y	-	2	0	ELMO2	44455624	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.796000	0.69080	1.924000	0.55735	0.402000	0.26972	TAT		0.438	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		86	237	0	0	0	1	0	86	237				
GALNT18	374378	broad.mit.edu	37	11	11398738	11398738	+	Missense_Mutation	SNP	G	G	A	rs146816102		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:11398738G>A	ENST00000227756.4	-	5	1379	c.968C>T	c.(967-969)gCg>gTg	p.A323V		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	323					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CCTGATTGGCGCTGTGGAGTT	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17656	0.0		0.0	False		,,,				2504	0.0					ENST00000227756.4																			0											c.(967-969)gCg>gTg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18		G	VAL/ALA	13,4389	21.2+/-45.6	0,13,2188	63.0	62.0	62.0		968	5.5	1.0	11	dbSNP_134	62	0,8588		0,0,4294	yes	missense	GALNTL4	NM_198516.2	64	0,13,6482	AA,AG,GG		0.0,0.2953,0.1001	probably-damaging	323/608	11398738	13,12977	2201	4294	6495	SO:0001583	missense	374378							g.chr11:11398738G>A	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.968C>T	11.37:g.11398738G>A	ENSP00000227756:p.Ala323Val						p.A323V	NM_198516.2	NP_940918.2					5	1379	-								O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.968C>T	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971962	0.74246	0.002953	0.0	ENSG00000110328	ENST00000227756	T	0.59502	0.26	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.68100	0.2964	L	0.45422	1.42	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.60566	-0.7238	10	0.15952	T	0.53	.	17.9992	0.89194	0.0:0.0:1.0:0.0	.	323	Q6P9A2	GLTL4_HUMAN	V	323	ENSP00000227756:A323V	ENSP00000227756:A323V	A	-	2	0	GALNTL4	11355314	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.810000	0.99221	2.583000	0.87209	0.655000	0.94253	GCG		0.567	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		25	61	0	0	0	1	0	25	61				
PDXK	8566	broad.mit.edu	37	21	45168916	45168916	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:45168916T>C	ENST00000291565.4	+	6	602	c.419T>C	c.(418-420)gTg>gCg	p.V140A	PDXK_ENST00000468090.1_Missense_Mutation_p.V112A|PDXK_ENST00000467908.1_Missense_Mutation_p.V100A	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	140					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	AAAGAAAAAGTGGTGCCGCTT	0.483																																						ENST00000291565.4																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(418-420)gTg>gCg		pyridoxal (pyridoxine, vitamin B6) kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)						94.0	90.0	91.0					21																	45168916		2203	4300	6503	SO:0001583	missense	8566				cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding	g.chr21:45168916T>C	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.419T>C	21.37:g.45168916T>C	ENSP00000291565:p.Val140Ala					PDXK_ENST00000468090.1_Missense_Mutation_p.V112A|PDXK_ENST00000467908.1_Missense_Mutation_p.V100A	p.V140A	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	6	602	+			140					Q7Z2Y0|Q9BS02	Missense_Mutation	SNP	ENST00000291565.4	37	c.419T>C	CCDS13699.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.016498	0.35606	.	.	ENSG00000160209	ENST00000468090;ENST00000291565;ENST00000463355;ENST00000467908	T;T;T	0.77358	-1.09;-1.09;-1.09	4.84	4.84	0.62591	Carbohydrate/purine kinase (1);	0.305787	0.34110	N	0.004246	T	0.71837	0.3387	L	0.41824	1.3	0.54753	D	0.999986	B;B;B	0.14012	0.009;0.004;0.008	B;B;B	0.32980	0.156;0.011;0.029	T	0.64989	-0.6277	10	0.13853	T	0.58	-20.8737	14.3145	0.66440	0.0:0.0:0.0:1.0	.	140;112;140	F2Z3F8;O00764-2;O00764	.;.;PDXK_HUMAN	A	112;140;140;100	ENSP00000418359:V112A;ENSP00000291565:V140A;ENSP00000420708:V100A	ENSP00000291565:V140A	V	+	2	0	PDXK	43993344	1.000000	0.71417	0.112000	0.21494	0.044000	0.14063	7.275000	0.78548	2.052000	0.61016	0.519000	0.50382	GTG		0.483	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	NM_003681		9	99	0	0	0	1	0	9	99				
DIS3L2	129563	broad.mit.edu	37	2	233001426	233001426	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:233001426T>C	ENST00000409307.1	+	7	947	c.947T>C	c.(946-948)cTg>cCg	p.L316P	DIS3L2_ENST00000360410.4_Missense_Mutation_p.W336R|DIS3L2_ENST00000325385.7_Missense_Mutation_p.L316P|DIS3L2_ENST00000273009.6_Missense_Mutation_p.L316P					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AATTTTGCCCTGGGGTAGGTG	0.448																																						ENST00000325385.7																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(946-948)cTg>cCg		DIS3 mitotic control homolog (S. cerevisiae)-like 2							83.0	80.0	81.0					2																	233001426		1917	4126	6043	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233001426T>C	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.947T>C	2.37:g.233001426T>C	ENSP00000386799:p.Leu316Pro					DIS3L2_ENST00000273009.6_Missense_Mutation_p.L316P|DIS3L2_ENST00000409307.1_Missense_Mutation_p.L316P|DIS3L2_ENST00000360410.4_Missense_Mutation_p.W336R	p.L316P	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	8	1223	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	316						Missense_Mutation	SNP	ENST00000409307.1	37	c.947T>C	CCDS42834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.10|15.10	2.734274|2.734274	0.48939|0.48939	.|.	.|.	ENSG00000144535|ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307|ENST00000360410	T;T;T|T	0.33216|0.40476	1.42;1.85;1.85|1.03	6.08|6.08	4.94|4.94	0.65067|0.65067	.|.	0.364341|.	0.26272|.	N|.	0.025334|.	T|T	0.38214|0.38214	0.1032|0.1032	L|L	0.39245|0.39245	1.2|1.2	0.20403|0.20403	N|N	0.999909|0.999909	B|.	0.22541|.	0.071|.	B|.	0.22601|.	0.04|.	T|T	0.39961|0.39961	-0.9588|-0.9588	10|7	0.29301|0.87932	T|D	0.29|0	-12.9455|-12.9455	4.8031|4.8031	0.13307|0.13307	0.153:0.1276:0.0:0.7194|0.153:0.1276:0.0:0.7194	.|.	316|.	Q8IYB7|.	DI3L2_HUMAN|.	P|R	316|336	ENSP00000273009:L316P;ENSP00000315569:L316P;ENSP00000386799:L316P|ENSP00000353584:W336R	ENSP00000273009:L316P|ENSP00000353584:W336R	L|W	+|+	2|1	0|0	DIS3L2|DIS3L2	232709670|232709670	0.997000|0.997000	0.39634|0.39634	0.988000|0.988000	0.46212|0.46212	0.968000|0.968000	0.65278|0.65278	3.643000|3.643000	0.54374|0.54374	2.333000|2.333000	0.79357|0.79357	0.482000|0.482000	0.46254|0.46254	CTG|TGG		0.448	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		25	87	0	0	0	1	0	25	87				
C16orf62	57020	broad.mit.edu	37	16	19576215	19576215	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:19576215C>T	ENST00000251143.5	+	2	72	c.60C>T	c.(58-60)tgC>tgT	p.C20C	C16orf62_ENST00000538853.1_Silent_p.C109C|C16orf62_ENST00000417362.2_Silent_p.C20C|C16orf62_ENST00000438132.3_Silent_p.C109C|C16orf62_ENST00000542263.1_Silent_p.C109C			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	20						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTGCATCATGCCGACTGGAGG	0.428																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(325-327)tgC>tgT		chromosome 16 open reading frame 62							120.0	104.0	109.0					16																	19576215		2197	4300	6497	SO:0001819	synonymous_variant	57020					integral to membrane		g.chr16:19576215C>T		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.60C>T	16.37:g.19576215C>T						C16orf62_ENST00000417362.2_Silent_p.C20C|C16orf62_ENST00000538853.1_Silent_p.C109C|C16orf62_ENST00000251143.5_Silent_p.C20C|C16orf62_ENST00000542263.1_Silent_p.C109C	p.C109C	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			2	375	+			20					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37	c.327C>T																																																																																					0.428	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		17	48	0	0	0	1	0	17	48				
NEGR1	257194	broad.mit.edu	37	1	72163772	72163772	+	Missense_Mutation	SNP	C	C	T	rs148707586		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:72163772C>T	ENST00000357731.5	-	4	825	c.586G>A	c.(586-588)Gac>Aac	p.D196N	NEGR1_ENST00000434200.1_Intron|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Missense_Mutation_p.D68N	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	196	Ig-like C2-type 2.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CCAGCCTGGTCCCTTGTAATT	0.378																																						ENST00000357731.4																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(586-588)Gac>Aac		neuronal growth regulator 1		C	ASN/ASP	1,4403	2.1+/-5.4	0,1,2201	125.0	116.0	119.0		586	5.7	1.0	1	dbSNP_134	119	0,8600		0,0,4300	no	missense	NEGR1	NM_173808.2	23	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	196/355	72163772	1,13003	2202	4300	6502	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72163772C>T	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.586G>A	1.37:g.72163772C>T	ENSP00000350364:p.Asp196Asn					NEGR1_ENST00000306821.3_Missense_Mutation_p.D68N|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Intron	p.D196N	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	4	825	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	196			Ig-like C2-type 2.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.586G>A	CCDS661.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091650	0.76756	2.27E-4	0.0	ENSG00000172260	ENST00000357731;ENST00000306821	T;T	0.29917	1.55;1.55	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.19967	0.0480	L	0.28504	0.86	0.80722	D	1	B	0.27450	0.179	B	0.37943	0.261	T	0.06899	-1.0801	10	0.29301	T	0.29	-14.1797	19.504	0.95108	0.0:1.0:0.0:0.0	.	196	Q7Z3B1	NEGR1_HUMAN	N	196;68	ENSP00000350364:D196N;ENSP00000305938:D68N	ENSP00000305938:D68N	D	-	1	0	NEGR1	71936360	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.092000	0.57707	2.709000	0.92574	0.591000	0.81541	GAC		0.378	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		7	37	0	0	0	1	0	7	37				
CEP57	9702	broad.mit.edu	37	11	95546694	95546694	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:95546694T>C	ENST00000325542.5	+	4	683	c.445T>C	c.(445-447)Tac>Cac	p.Y149H	CEP57_ENST00000537677.1_Missense_Mutation_p.Y122H|CEP57_ENST00000325486.5_Missense_Mutation_p.Y149H|CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000541150.1_Missense_Mutation_p.Y140H|CEP57_ENST00000538658.1_Missense_Mutation_p.Y149H	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	149	centrosome localization domain (CLD). {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACAATTGGAATACATGCGAAA	0.338									Mosaic Variegated Aneuploidy Syndrome																													ENST00000325542.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(445-447)Tac>Cac		centrosomal protein 57kDa							84.0	77.0	79.0					11																	95546694		2201	4298	6499	SO:0001583	missense	9702	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity	g.chr11:95546694T>C	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.445T>C	11.37:g.95546694T>C	ENSP00000317902:p.Tyr149His					CEP57_ENST00000541150.1_Missense_Mutation_p.Y140H|CEP57_ENST00000537677.1_Missense_Mutation_p.Y122H|CEP57_ENST00000325486.5_Missense_Mutation_p.Y149H|CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000538658.1_Missense_Mutation_p.Y149H	p.Y149H	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN			4	683	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	149			centrosome localization domain (CLD) (By similarity).		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	ENST00000325542.5	37	c.445T>C	CCDS8304.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.979272	0.74360	.	.	ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000544522;ENST00000541365;ENST00000538658;ENST00000541150	T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000002	T	0.68449	0.3002	L	0.51422	1.61	0.44685	D	0.99767	D;P;D;D	0.89917	1.0;0.724;1.0;1.0	D;B;D;D	0.91635	0.998;0.19;0.999;0.998	T	0.70846	-0.4761	10	0.87932	D	0	2.3701	16.3495	0.83197	0.0:0.0:0.0:1.0	.	140;149;149;149	F5H5F7;Q86XR8-2;Q86XR8;Q86XR8-3	.;.;CEP57_HUMAN;.	H	122;149;149;140;122;149;140	ENSP00000441392:Y122H;ENSP00000317902:Y149H;ENSP00000317487:Y149H;ENSP00000438065:Y140H;ENSP00000445821:Y122H;ENSP00000445706:Y149H;ENSP00000443436:Y140H	ENSP00000317487:Y149H	Y	+	1	0	CEP57	95186342	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.677000	0.68142	2.261000	0.74972	0.482000	0.46254	TAC		0.338	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		10	41	0	0	0	1	0	10	41				
TXNDC9	10190	broad.mit.edu	37	2	99949571	99949571	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:99949571T>C	ENST00000264255.3	-	2	358	c.103A>G	c.(103-105)Aaa>Gaa	p.K35E	TXNDC9_ENST00000409434.1_Missense_Mutation_p.K35E|TXNDC9_ENST00000434323.1_Missense_Mutation_p.K35E	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN	thioredoxin domain containing 9	35					cell redox homeostasis (GO:0045454)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)				lung(1)	1						TGATCCAGTTTTTGAATTTCA	0.438																																						ENST00000264255.3																			0				lung(1)	1						c.(103-105)Aaa>Gaa		thioredoxin domain containing 9							141.0	126.0	131.0					2																	99949571		2203	4300	6503	SO:0001583	missense	10190				cell redox homeostasis		protein binding	g.chr2:99949571T>C	BC005968	CCDS2044.1	2q11.2	2008-02-05			ENSG00000115514	ENSG00000115514			24110	protein-coding gene	gene with protein product		612564				12477932	Standard	NM_005783		Approved	APACD	uc002szz.3	O14530	OTTHUMG00000130641	ENST00000264255.3:c.103A>G	2.37:g.99949571T>C	ENSP00000264255:p.Lys35Glu					TXNDC9_ENST00000409434.1_Missense_Mutation_p.K35E	p.K35E	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN			2	358	-			35					B2R9G8|D3DVI4|Q53HG4|Q53RV8|Q6NSF5|Q8TB70|Q9BRU6	Missense_Mutation	SNP	ENST00000264255.3	37	c.103A>G	CCDS2044.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.462540	0.63513	.	.	ENSG00000115514	ENST00000540776;ENST00000264255;ENST00000409434;ENST00000409705	T;T;T	0.14766	2.48;2.48;2.48	5.69	5.69	0.88448	.	0.087509	0.85682	D	0.000000	T	0.24509	0.0594	M	0.76328	2.33	0.51482	D	0.999928	P;P	0.41748	0.638;0.761	B;B	0.43867	0.212;0.434	T	0.01256	-1.1404	9	.	.	.	-25.9848	16.2484	0.82467	0.0:0.0:0.0:1.0	.	52;35	B7Z7A4;O14530	.;TXND9_HUMAN	E	52;35;35;35	ENSP00000264255:K35E;ENSP00000387275:K35E;ENSP00000386889:K35E	.	K	-	1	0	TXNDC9	99316003	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.627000	0.61276	2.291000	0.77112	0.533000	0.62120	AAA		0.438	TXNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253129.1	NM_005783		9	88	0	0	0	1	0	9	88				
GUCY2C	2984	broad.mit.edu	37	12	14781658	14781658	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:14781658A>G	ENST00000261170.3	-	20	2307	c.2171T>C	c.(2170-2172)gTa>gCa	p.V724A		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	724	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ACAGTTTTTTACAAGTAGGTA	0.348																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(2170-2172)gTa>gCa		guanylate cyclase 2C (heat stable enterotoxin receptor)							102.0	111.0	108.0					12																	14781658		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14781658A>G		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2171T>C	12.37:g.14781658A>G	ENSP00000261170:p.Val724Ala						p.V724A	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			20	2307	-			724			Protein kinase.		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.2171T>C	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.097853	0.56075	.	.	ENSG00000070019	ENST00000261170	D	0.83075	-1.68	4.49	4.49	0.54785	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055374	0.64402	D	0.000001	T	0.69333	0.3099	N	0.10685	0.025	0.58432	D	0.999996	B	0.29188	0.236	B	0.30105	0.111	T	0.72070	-0.4401	10	0.72032	D	0.01	.	14.0963	0.65023	1.0:0.0:0.0:0.0	.	724	P25092	GUC2C_HUMAN	A	724	ENSP00000261170:V724A	ENSP00000261170:V724A	V	-	2	0	GUCY2C	14672925	1.000000	0.71417	0.996000	0.52242	0.813000	0.45954	8.969000	0.93411	1.797000	0.52628	0.533000	0.62120	GTA		0.348	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			25	77	0	0	0	1	0	25	77				
CMYA5	202333	broad.mit.edu	37	5	79054654	79054654	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:79054654A>G	ENST00000446378.2	+	7	11220	c.11189A>G	c.(11188-11190)aAc>aGc	p.N3730S	CMYA5_ENST00000505466.1_3'UTR	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3730	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGGAGCATGAACAAGGAAGAT	0.393																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(11188-11190)aAc>aGc		cardiomyopathy associated 5							130.0	122.0	125.0					5																	79054654		1927	4142	6069	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79054654A>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.11189A>G	5.37:g.79054654A>G	ENSP00000394770:p.Asn3730Ser					CMYA5_ENST00000505466.1_3'UTR	p.N3730S	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	7	11220	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3730			Fibronectin type-III 1.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.11189A>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.245299	0.39697	.	.	ENSG00000164309	ENST00000446378	T	0.52295	0.67	5.07	3.9	0.45041	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.232964	0.30611	N	0.009256	T	0.52629	0.1746	L	0.29908	0.895	0.33418	D	0.579493	D	0.89917	1.0	D	0.75020	0.985	T	0.62421	-0.6858	10	0.46703	T	0.11	.	10.7468	0.46185	0.9131:0.0:0.0869:0.0	.	3730	Q8N3K9	CMYA5_HUMAN	S	3730	ENSP00000394770:N3730S	ENSP00000394770:N3730S	N	+	2	0	CMYA5	79090410	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	2.486000	0.45259	2.127000	0.65507	0.459000	0.35465	AAC		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		26	77	0	0	0	1	0	26	77				
CACNA1I	8911	broad.mit.edu	37	22	40080370	40080370	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:40080370T>C	ENST00000402142.3	+	36	5894	c.5894T>C	c.(5893-5895)tTc>tCc	p.F1965S	CACNA1I_ENST00000407673.1_Missense_Mutation_p.F1930S|CACNA1I_ENST00000401624.1_Missense_Mutation_p.F1965S|CACNA1I_ENST00000336649.4_Missense_Mutation_p.F1971S|CACNA1I_ENST00000400164.3_Missense_Mutation_p.F1930S|CACNA1I_ENST00000404898.1_Missense_Mutation_p.F1930S	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1965					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCGAGTTCTTCCACCCTGCA	0.637																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(5911-5913)tTc>tCc		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						39.0	45.0	44.0					22																	40080370		2011	4167	6178	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40080370T>C	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5894T>C	22.37:g.40080370T>C	ENSP00000385019:p.Phe1965Ser					CACNA1I_ENST00000402142.3_Missense_Mutation_p.F1965S|CACNA1I_ENST00000401624.1_Missense_Mutation_p.F1965S|CACNA1I_ENST00000400164.3_Missense_Mutation_p.F1930S|CACNA1I_ENST00000404898.1_Missense_Mutation_p.F1930S|CACNA1I_ENST00000407673.1_Missense_Mutation_p.F1930S	p.F1971S			Q9P0X4	CAC1I_HUMAN			39	5912	+	Melanoma(58;0.0749)		1965					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.5912T>C	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.398287	0.83120	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98362	-4.88;-4.85;-4.6;-4.55;-4.89;-4.81	5.05	5.05	0.67936	.	4.081540	0.00610	N	0.000413	D	0.98235	0.9416	L	0.32530	0.975	0.47094	D	0.999317	D;D;D;D	0.76494	0.993;0.998;0.999;0.998	P;P;D;P	0.64877	0.827;0.827;0.93;0.852	D	0.91531	0.5242	10	0.22109	T	0.4	.	14.8101	0.69989	0.0:0.0:0.0:1.0	.	1930;1965;1930;1965	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	S	1965;1930;1965;1930;1971;1930	ENSP00000385019:F1965S;ENSP00000384093:F1930S;ENSP00000383887:F1965S;ENSP00000385680:F1930S;ENSP00000337829:F1971S;ENSP00000383028:F1930S	ENSP00000337829:F1971S	F	+	2	0	CACNA1I	38410316	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	7.296000	0.78790	1.893000	0.54813	0.459000	0.35465	TTC		0.637	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		9	31	0	0	0	1	0	9	31				
OR52A1	23538	broad.mit.edu	37	11	5172715	5172715	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:5172715A>G	ENST00000380367.1	-	2	1302	c.885T>C	c.(883-885)taT>taC	p.Y295Y	OR52A1_ENST00000328942.1_Silent_p.Y295Y			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	295					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTTGCACCATAGACAAGTG	0.383																																						ENST00000380367.1																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(883-885)taT>taC		olfactory receptor, family 52, subfamily A, member 1							138.0	145.0	143.0					11																	5172715		2201	4297	6498	SO:0001819	synonymous_variant	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5172715A>G	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.885T>C	11.37:g.5172715A>G						OR52A1_ENST00000328942.1_Silent_p.Y295Y	p.Y295Y			Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1302	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	295					Q6IF31	Silent	SNP	ENST00000380367.1	37	c.885T>C	CCDS31374.1																																																																																				0.383	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		44	138	0	0	0	1	0	44	138				
CEACAM5	1048	broad.mit.edu	37	19	42221417	42221417	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:42221417C>T	ENST00000221992.6	+	5	1116	c.1002C>T	c.(1000-1002)ccC>ccT	p.P334P	CEACAM5_ENST00000405816.1_Silent_p.P334P|CEACAM5_ENST00000398599.4_Silent_p.P333P|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	334	Ig-like 4.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.P334P(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ACTCCAACCCCGTGGAGGATG	0.532																																						ENST00000221992.6																			1	Substitution - coding silent(1)	p.P334P(1)	kidney(1)	breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1000-1002)ccC>ccT		carcinoembryonic antigen-related cell adhesion molecule 5							143.0	144.0	144.0					19																	42221417		2203	4300	6503	SO:0001819	synonymous_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42221417C>T	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1002C>T	19.37:g.42221417C>T						CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.P333P|CEACAM5_ENST00000405816.1_Silent_p.P334P	p.P334P	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	5	1116	+			334			Ig-like 4.		H9KVA7	Silent	SNP	ENST00000221992.6	37	c.1002C>T	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	C	1.925	-0.447363	0.04572	.	.	ENSG00000105388	ENST00000398599	.	.	.	2.77	-3.43	0.04810	.	.	.	.	.	T	0.18882	0.0453	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28618	-1.0038	4	.	.	.	.	2.7257	0.05213	0.2102:0.3637:0.0:0.4261	.	.	.	.	C	330	.	.	R	+	1	0	CEACAM5	46913257	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.043000	0.03535	-0.289000	0.09038	-0.695000	0.03696	CGT		0.532	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		48	141	0	0	0	1	0	48	141				
MED12	9968	broad.mit.edu	37	X	70349193	70349193	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:70349193C>T	ENST00000374080.3	+	26	3637	c.3605C>T	c.(3604-3606)tCc>tTc	p.S1202F	MED12_ENST00000374102.1_Missense_Mutation_p.S1202F|MED12_ENST00000333646.6_Missense_Mutation_p.S1202F			Q93074	MED12_HUMAN	mediator complex subunit 12	1202					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ATCCGCTCCTCCTGCGACCGC	0.567			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3604-3606)tCc>tTc		mediator complex subunit 12							53.0	56.0	55.0					X																	70349193		2104	4207	6311	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349193C>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3605C>T	X.37:g.70349193C>T	ENSP00000363193:p.Ser1202Phe		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374080.3_Missense_Mutation_p.S1202F|MED12_ENST00000374102.1_Missense_Mutation_p.S1202F	p.S1202F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			26	3804	+	Renal(35;0.156)		1202					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3605C>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	22.5	4.297220	0.81025	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.986;0.997;0.998	T	0.65335	-0.6193	10	0.87932	D	0	-17.9828	17.7451	0.88418	0.0:1.0:0.0:0.0	.	1202;1049;1202;1202	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	F	1202;1202;1202;1202;1170	ENSP00000333125:S1202F;ENSP00000363215:S1202F;ENSP00000363193:S1202F;ENSP00000414203:S1170F	ENSP00000333125:S1202F	S	+	2	0	MED12	70265918	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.032000	0.76498	2.465000	0.83290	0.529000	0.55759	TCC		0.567	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		17	20	0	0	0	1	0	17	20				
SAMD9L	219285	broad.mit.edu	37	7	92761081	92761081	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:92761081G>A	ENST00000318238.4	-	5	5420	c.4204C>T	c.(4204-4206)Cca>Tca	p.P1402S	SAMD9L_ENST00000437805.1_Missense_Mutation_p.P1402S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.P1402S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1402					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GTGGTAAGTGGTTGAATTAAC	0.403																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(4204-4206)Cca>Tca		sterile alpha motif domain containing 9-like							171.0	169.0	170.0					7																	92761081		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92761081G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4204C>T	7.37:g.92761081G>A	ENSP00000326247:p.Pro1402Ser					SAMD9L_ENST00000411955.1_Missense_Mutation_p.P1402S|SAMD9L_ENST00000437805.1_Missense_Mutation_p.P1402S	p.P1402S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5420	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1402					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.4204C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615016	0.28712	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	T;T;T	0.22336	1.96;1.96;1.96	5.22	5.22	0.72569	.	0.277173	0.30658	N	0.009159	T	0.27663	0.0680	L	0.52759	1.655	0.28081	N	0.932201	D	0.56521	0.976	P	0.50049	0.629	T	0.08452	-1.0721	10	0.34782	T	0.22	-12.5278	12.9339	0.58303	0.0786:0.0:0.9214:0.0	.	1402	Q8IVG5	SAM9L_HUMAN	S	1402;1402;1402;224	ENSP00000326247:P1402S;ENSP00000405760:P1402S;ENSP00000408796:P1402S	ENSP00000326247:P1402S	P	-	1	0	SAMD9L	92599017	0.000000	0.05858	0.725000	0.30721	0.061000	0.15899	-0.065000	0.11617	2.716000	0.92895	0.467000	0.42956	CCA		0.403	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		44	185	0	0	0	1	0	44	185				
PLA2G5	5322	broad.mit.edu	37	1	20416375	20416375	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:20416375C>T	ENST00000375108.3	+	4	547	c.279C>T	c.(277-279)ggC>ggT	p.G93G	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	93					arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)	p.G93G(2)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TCGCGTGGGGCGTGGTCACCT	0.582																																						ENST00000375108.3																			2	Substitution - coding silent(2)	p.G93G(2)	lung(2)	NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(277-279)ggC>ggT		phospholipase A2, group V							95.0	78.0	84.0					1																	20416375		2203	4300	6503	SO:0001819	synonymous_variant	5322				lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr1:20416375C>T	U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698	ENST00000375108.3:c.279C>T	1.37:g.20416375C>T						PLA2G5_ENST00000486277.1_3'UTR	p.G93G	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)	4	547	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)	93					Q8N435	Silent	SNP	ENST00000375108.3	37	c.279C>T	CCDS202.1																																																																																				0.582	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007668.1	NM_000929		16	30	0	0	0	1	0	16	30				
KRT74	121391	broad.mit.edu	37	12	52962046	52962046	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52962046A>G	ENST00000305620.2	-	7	1309	c.1262T>C	c.(1261-1263)aTg>aCg	p.M421T	KRT74_ENST00000549343.1_Missense_Mutation_p.M435T	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	421	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CTCGCGCAGCATCCGCGCCAG	0.647																																						ENST00000549343.1																			0				kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1303-1305)aTg>aCg		keratin 74							90.0	80.0	84.0					12																	52962046		2203	4300	6503	SO:0001583	missense	121391					keratin filament	structural molecule activity	g.chr12:52962046A>G	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.1262T>C	12.37:g.52962046A>G	ENSP00000307240:p.Met421Thr					KRT74_ENST00000305620.2_Missense_Mutation_p.M421T	p.M435T			Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	8	1342	-			421			Coil 2.|Rod.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.1304T>C	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.703968	0.68501	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.88277	-2.36;-2.36	4.57	4.57	0.56435	Filament (1);	0.000000	0.42821	D	0.000644	D	0.90758	0.7099	L	0.56769	1.78	0.37560	D	0.91903	P	0.39131	0.661	P	0.52710	0.707	D	0.92546	0.6046	10	0.87932	D	0	.	9.9697	0.41745	0.8485:0.0:0.0:0.1515	.	421	Q7RTS7	K2C74_HUMAN	T	435;421	ENSP00000447447:M435T;ENSP00000307240:M421T	ENSP00000307240:M421T	M	-	2	0	KRT74	51248313	0.641000	0.27251	1.000000	0.80357	0.995000	0.86356	2.411000	0.44600	2.000000	0.58554	0.533000	0.62120	ATG		0.647	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		31	139	0	0	0	1	0	31	139				
DNAH10	196385	broad.mit.edu	37	12	124285853	124285853	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124285853T>C	ENST00000409039.3	+	15	2159	c.2134T>C	c.(2134-2136)Ttg>Ctg	p.L712L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	712	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACAGCGCATGTTGGATCATTA	0.463																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2134-2136)Ttg>Ctg		dynein, axonemal, heavy chain 10							291.0	252.0	265.0					12																	124285853		2203	4300	6503	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124285853T>C	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2134T>C	12.37:g.124285853T>C							p.L712L	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	15	2159	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		712			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.2134T>C	CCDS9255.2																																																																																				0.463	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			58	255	0	0	0	1	0	58	255				
FOXQ1	94234	broad.mit.edu	37	6	1313290	1313290	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:1313290G>A	ENST00000296839.2	+	1	616	c.351G>A	c.(349-351)cgG>cgA	p.R117R		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	117					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ATACGCGGCGGCCCAAGCCCC	0.746																																						ENST00000296839.2																			0				lung(1)|urinary_tract(1)	2						c.(349-351)cgG>cgA		forkhead box Q1							18.0	22.0	21.0					6																	1313290		2183	4276	6459	SO:0001819	synonymous_variant	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding	g.chr6:1313290G>A	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.351G>A	6.37:g.1313290G>A							p.R117R	NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	616	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	117					Q9NS06	Silent	SNP	ENST00000296839.2	37	c.351G>A	CCDS4471.1																																																																																				0.746	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		17	34	0	0	0	1	0	17	34				
AGBL2	79841	broad.mit.edu	37	11	47732033	47732033	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:47732033G>A	ENST00000525123.1	-	4	413	c.128C>T	c.(127-129)aCg>aTg	p.T43M	AGBL2_ENST00000528244.1_Missense_Mutation_p.T43M|AGBL2_ENST00000298861.4_Missense_Mutation_p.T43M|AGBL2_ENST00000357610.3_Missense_Mutation_p.T43M|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	43						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ATGCTGATGCGTAGCAGAGTT	0.433																																						ENST00000525123.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(127-129)aCg>aTg		ATP/GTP binding protein-like 2							109.0	101.0	104.0					11																	47732033		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47732033G>A		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.128C>T	11.37:g.47732033G>A	ENSP00000435582:p.Thr43Met					AGBL2_ENST00000357610.3_Missense_Mutation_p.T43M|AGBL2_ENST00000298861.4_Missense_Mutation_p.T43M|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.T43M	p.T43M	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			4	413	-			43					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.128C>T	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	G	5.714	0.316258	0.10789	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000530577;ENST00000529154	T;T;T;T;T;T;T	0.42513	1.73;1.73;1.73;1.73;0.97;1.73;1.73	4.82	2.74	0.32292	.	0.470706	0.19399	N	0.115224	T	0.32224	0.0822	L	0.51422	1.61	0.09310	N	1	B;B;B	0.17268	0.019;0.011;0.021	B;B;B	0.14023	0.01;0.004;0.003	T	0.21449	-1.0245	10	0.46703	T	0.11	-3.8158	4.7375	0.12995	0.1141:0.0:0.6178:0.2681	.	43;43;43	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	M	43;43;43;43;43;43;23;43	ENSP00000435582:T43M;ENSP00000350228:T43M;ENSP00000298861:T43M;ENSP00000436630:T43M;ENSP00000436063:T43M;ENSP00000432264:T23M;ENSP00000436518:T43M	ENSP00000298861:T43M	T	-	2	0	AGBL2	47688609	0.004000	0.15560	0.019000	0.16419	0.124000	0.20399	0.330000	0.19715	1.039000	0.40074	0.585000	0.79938	ACG		0.433	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		25	80	0	0	0	1	0	25	80				
KLHL42	57542	broad.mit.edu	37	12	27950995	27950995	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:27950995T>C	ENST00000381271.2	+	3	1725	c.1414T>C	c.(1414-1416)Tac>Cac	p.Y472H	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	472					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GTTCCTCAAGTACAACATCTT	0.463																																						ENST00000381271.2																			0											c.(1414-1416)Tac>Cac		kelch-like family member 42							121.0	102.0	109.0					12																	27950995		2203	4300	6503	SO:0001583	missense	57542							g.chr12:27950995T>C	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1414T>C	12.37:g.27950995T>C	ENSP00000370671:p.Tyr472His						p.Y472H	NM_020782.1	NP_065833.1					3	1725	+								Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	c.1414T>C	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.856875	0.91433	.	.	ENSG00000087448	ENST00000381271	T	0.71934	-0.61	5.6	5.6	0.85130	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.81640	0.4865	L	0.56769	1.78	0.53005	D	0.999964	D	0.89917	1.0	D	0.85130	0.997	D	0.83552	0.0102	10	0.87932	D	0	.	14.9626	0.71169	0.0:0.0:0.0:1.0	.	472	Q9P2K6	KLDC5_HUMAN	H	472	ENSP00000370671:Y472H	ENSP00000370671:Y472H	Y	+	1	0	KLHDC5	27842262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.471000	0.80985	2.116000	0.64780	0.533000	0.62120	TAC		0.463	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		24	80	0	0	0	1	0	24	80				
PPP2R2A	5520	broad.mit.edu	37	8	26220330	26220330	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:26220330G>A	ENST00000380737.3	+	7	1097	c.768G>A	c.(766-768)atG>atA	p.M256I	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.M266I	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	256					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.M256I(2)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TATGTGACATGAGGGCATCTG	0.373																																						ENST00000380737.3																			2	Substitution - Missense(2)	p.M256I(2)	lung(2)	kidney(1)|large_intestine(2)|ovary(1)	4						c.(766-768)atG>atA		protein phosphatase 2, regulatory subunit B, alpha							82.0	75.0	78.0					8																	26220330		2203	4300	6503	SO:0001583	missense	5520							g.chr8:26220330G>A	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.768G>A	8.37:g.26220330G>A	ENSP00000370113:p.Met256Ile					PPP2R2A_ENST00000315985.7_Missense_Mutation_p.M266I	p.M256I	NM_002717.3	NP_002708.1				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	7	1097	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	c.768G>A	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532327	0.85812	.	.	ENSG00000221914	ENST00000380737;ENST00000524169;ENST00000315985	T;T;T	0.68765	1.76;-0.35;1.76	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.81922	0.4925	M	0.76170	2.325	0.80722	D	1	B;P;P	0.38300	0.37;0.534;0.626	B;P;P	0.56343	0.281;0.796;0.618	T	0.82061	-0.0644	10	0.87932	D	0	-14.5181	19.7612	0.96319	0.0:0.0:1.0:0.0	.	266;256;257	B4E1T7;P63151;Q6ZP32	.;2ABA_HUMAN;.	I	256;35;266	ENSP00000370113:M256I;ENSP00000430320:M35I;ENSP00000325074:M266I	ENSP00000325074:M266I	M	+	3	0	PPP2R2A	26276247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.378000	0.97191	2.670000	0.90874	0.655000	0.94253	ATG		0.373	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		8	44	0	0	0	1	0	8	44				
DSP	1832	broad.mit.edu	37	6	7586071	7586071	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:7586071C>G	ENST00000379802.3	+	24	8917	c.8576C>G	c.(8575-8577)tCt>tGt	p.S2859C	DSP_ENST00000418664.2_Missense_Mutation_p.S2260C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2859	Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCTTCCTACTCTTATTCCTAC	0.507																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(8575-8577)tCt>tGt		desmoplakin							87.0	96.0	93.0					6																	7586071		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7586071C>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8576C>G	6.37:g.7586071C>G	ENSP00000369129:p.Ser2859Cys					DSP_ENST00000418664.2_Missense_Mutation_p.S2260C	p.S2859C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8917	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2859			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.8576C>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771540	0.69992	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.76839	-0.72;-1.05	4.87	3.93	0.45458	.	0.230887	0.30830	N	0.008791	T	0.57844	0.2081	L	0.40543	1.245	0.25277	N	0.989461	B;B	0.12013	0.001;0.005	B;B	0.15052	0.004;0.012	T	0.59674	-0.7410	10	0.87932	D	0	.	14.867	0.70425	0.0:0.8559:0.1441:0.0	.	2307;2859	Q4LE79;P15924	.;DESP_HUMAN	C	2859;2260	ENSP00000369129:S2859C;ENSP00000396591:S2260C	ENSP00000369129:S2859C	S	+	2	0	DSP	7531070	1.000000	0.71417	0.986000	0.45419	0.983000	0.72400	2.794000	0.47853	2.411000	0.81874	0.655000	0.94253	TCT		0.507	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		41	128	0	0	0	1	0	41	128				
MOV10L1	54456	broad.mit.edu	37	22	50599150	50599150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:50599150C>T	ENST00000262794.5	+	25	3441	c.3358C>T	c.(3358-3360)Cga>Tga	p.R1120*	MOV10L1_ENST00000540615.1_Nonsense_Mutation_p.R1100*|MOV10L1_ENST00000395852.1_Nonsense_Mutation_p.R247*|MOV10L1_ENST00000545383.1_Nonsense_Mutation_p.R1120*|MOV10L1_ENST00000395858.3_Intron	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1120					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGAAGATGATCGATATTTTTT	0.393																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(3358-3360)Cga>Tga		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							134.0	133.0	133.0					22																	50599150		2203	4300	6503	SO:0001587	stop_gained	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50599150C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.3358C>T	22.37:g.50599150C>T	ENSP00000262794:p.Arg1120*					MOV10L1_ENST00000545383.1_Nonsense_Mutation_p.R1120*|MOV10L1_ENST00000540615.1_Nonsense_Mutation_p.R1100*|MOV10L1_ENST00000395852.1_Nonsense_Mutation_p.R247*|MOV10L1_ENST00000395858.3_Intron	p.R1120*	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	25	3441	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	1120					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Nonsense_Mutation	SNP	ENST00000262794.5	37	c.3358C>T	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	.	38	7.051997	0.98029	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000540615;ENST00000395852	.	.	.	5.68	2.28	0.28536	.	0.273852	0.42053	D	0.000769	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5971	13.615	0.62103	0.4085:0.5915:0.0:0.0	.	.	.	.	X	1120;1120;1100;247	.	ENSP00000262794:R1120X	R	+	1	2	MOV10L1	48941277	0.009000	0.17119	0.009000	0.14445	0.190000	0.23558	0.468000	0.22051	0.588000	0.29660	0.643000	0.83706	CGA		0.393	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		19	54	0	0	0	1	0	19	54				
GTF2F2	2963	broad.mit.edu	37	13	45710869	45710869	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:45710869T>C	ENST00000340473.6	+	2	209	c.68T>C	c.(67-69)gTt>gCt	p.V23A	RNU6-69P_ENST00000516246.1_RNA	NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	23					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|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)|viral process (GO:0016032)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		TTGTTTTAGGTTCCTAAATAT	0.313																																						ENST00000340473.6																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.e2-1		general transcription factor IIF, polypeptide 2, 30kDa							83.0	86.0	85.0					13																	45710869		2203	4300	6503	SO:0001630	splice_region_variant	2963				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding	g.chr13:45710869T>C	X16901	CCDS9395.1	13q14	2012-01-23	2002-08-29		ENSG00000188342	ENSG00000188342		"""General transcription factors"""	4653	protein-coding gene	gene with protein product		189969	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			8162052	Standard	NM_004128		Approved	TFIIF, BTF4, RAP30	uc001uzw.3	P13984	OTTHUMG00000016849	ENST00000340473.6:c.67-1T>C	13.37:g.45710869T>C							p.V23_splice	NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)	2	209	+		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	23					A6NNS5|Q5W0H3	Splice_Site	SNP	ENST00000340473.6	37	c.66_splice	CCDS9395.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.074048	0.55646	.	.	ENSG00000188342	ENST00000340473	.	.	.	5.44	5.44	0.79542	Transcription Factor IIF, Rap30/Rap74, interaction (1);	0.061374	0.64402	D	0.000004	T	0.80899	0.4712	M	0.87900	2.915	0.58432	D	0.999998	D	0.71674	0.998	D	0.79784	0.993	D	0.84012	0.0349	9	0.62326	D	0.03	-19.9256	13.4454	0.61138	0.0:0.0:0.0:1.0	.	23	P13984	T2FB_HUMAN	A	23	.	ENSP00000340823:V23A	V	+	2	0	GTF2F2	44608869	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	5.650000	0.67944	2.064000	0.61679	0.482000	0.46254	GTT		0.313	GTF2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044767.2	NM_004128	Missense_Mutation	9	39	0	0	0	1	0	9	39				
ELAC2	60528	broad.mit.edu	37	17	12905677	12905677	+	Splice_Site	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:12905677C>T	ENST00000338034.4	-	14	1458		c.e14-1		ELAC2_ENST00000426905.3_Splice_Site|ELAC2_ENST00000395962.2_Splice_Site|ELAC2_ENST00000609345.1_5'Flank	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2						mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GGCCCTCCTTCTGAAAGAGAC	0.572																																						ENST00000338034.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						c.e14-1		elaC ribonuclease Z 2							74.0	73.0	73.0					17																	12905677		2203	4300	6503	SO:0001630	splice_region_variant	60528				tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12905677C>T	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1219-1G>A	17.37:g.12905677C>T						ELAC2_ENST00000395962.2_Splice_Site|ELAC2_ENST00000426905.3_Splice_Site		NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN			14	1458	-								B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Splice_Site	SNP	ENST00000338034.4	37		CCDS11164.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522686	0.27211	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962;ENST00000457438;ENST00000446899	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2701	0.87098	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELAC2	12846402	1.000000	0.71417	0.898000	0.35279	0.036000	0.12997	6.808000	0.75206	2.687000	0.91594	0.563000	0.77884	.		0.572	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5		Intron	17	44	0	0	0	1	0	17	44				
APPBP2	10513	broad.mit.edu	37	17	58571911	58571911	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:58571911A>G	ENST00000083182.3	-	3	582	c.295T>C	c.(295-297)Tac>Cac	p.Y99H		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	99					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CTGAATGAGTAGGCCAAGACT	0.373																																						ENST00000083182.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25						c.(295-297)Tac>Cac		amyloid beta precursor protein (cytoplasmic tail) binding protein 2							96.0	93.0	94.0					17																	58571911		2203	4300	6503	SO:0001583	missense	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58571911A>G	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.295T>C	17.37:g.58571911A>G	ENSP00000083182:p.Tyr99His						p.Y99H	NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		3	582	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		99					A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	ENST00000083182.3	37	c.295T>C	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.664485	0.29604	.	.	ENSG00000062725	ENST00000083182	D	0.82711	-1.64	5.88	5.88	0.94601	.	0.050785	0.85682	D	0.000000	T	0.69269	0.3092	N	0.08118	0	0.46849	D	0.999223	B	0.19583	0.037	B	0.19666	0.026	T	0.64901	-0.6298	10	0.23302	T	0.38	-3.2502	16.2762	0.82644	1.0:0.0:0.0:0.0	.	99	Q92624	APBP2_HUMAN	H	99	ENSP00000083182:Y99H	ENSP00000083182:Y99H	Y	-	1	0	APPBP2	55926693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.650000	0.74368	2.243000	0.73865	0.482000	0.46254	TAC		0.373	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		12	99	0	0	0	1	0	12	99				
EHMT1	79813	broad.mit.edu	37	9	140732933	140732933	+	IGR	SNP	G	G	A	rs566914558		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:140732933G>A	ENST00000460843.1	+	0	5095				MIR602_ENST00000384960.1_RNA	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1						chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GGCCGAGTGCGTCTCCTGTCA	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		16000	0.0		0.0	False		,,,				2504	0.001					ENST00000384960.1																			0																				61.0	66.0	64.0					9																	140732933		1568	3582	5150	SO:0001628	intergenic_variant	693187							g.chr9:140732933G>A	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995		9.37:g.140732933G>A								NR_030333.1						0	63	+								B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	RNA	SNP	ENST00000460843.1	37		CCDS7050.2																																																																																				0.622	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		4	163	0	0	0	1	0	4	163				
LIG3	3980	broad.mit.edu	37	17	33321416	33321416	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:33321416T>C	ENST00000378526.4	+	9	1710	c.1577T>C	c.(1576-1578)tTc>tCc	p.F526S	LIG3_ENST00000262327.5_Missense_Mutation_p.F526S	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	526					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TTCAGCTACTTCAGCCGCAGT	0.512								Other BER factors																														ENST00000378526.4																			0				endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31						c.(1576-1578)tTc>tCc	Other BER factors	ligase III, DNA, ATP-dependent	Bleomycin(DB00290)						239.0	173.0	196.0					17																	33321416		2203	4300	6503	SO:0001583	missense	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33321416T>C		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1577T>C	17.37:g.33321416T>C	ENSP00000367787:p.Phe526Ser					LIG3_ENST00000262327.5_Missense_Mutation_p.F526S	p.F526S	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN			9	1710	+		Ovarian(249;0.17)	526					Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	c.1577T>C	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	T	29.2	4.984629	0.93044	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	D;D	0.86097	-2.07;-2.07	5.65	5.65	0.86999	DNA ligase, ATP-dependent, central (1);	0.048480	0.85682	D	0.000000	D	0.94016	0.8083	M	0.93062	3.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.95207	0.8322	10	0.87932	D	0	-17.2495	15.2098	0.73214	0.0:0.0:0.0:1.0	.	526;526;526	E5KLB5;P49916;E5KLB6	.;DNLI3_HUMAN;.	S	526	ENSP00000367787:F526S;ENSP00000262327:F526S	ENSP00000262327:F526S	F	+	2	0	LIG3	30345529	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.599000	0.82757	2.371000	0.80710	0.533000	0.62120	TTC		0.512	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		6	130	0	0	0	1	0	6	130				
PLEC	5339	broad.mit.edu	37	8	145001841	145001841	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145001841G>A	ENST00000322810.4	-	27	4073	c.3904C>T	c.(3904-3906)Cag>Tag	p.Q1302*	PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q1165*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q1151*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q1143*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q1165*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q1188*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q1192*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q1169*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q1133*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1302	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGTGCCGCTGCTGCAGTCGC	0.731																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(3904-3906)Cag>Tag		plectin							5.0	6.0	6.0					8																	145001841		2014	4033	6047	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145001841G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.3904C>T	8.37:g.145001841G>A	ENSP00000323856:p.Gln1302*					PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q1188*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q1151*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q1192*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q1169*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q1165*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q1133*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q1165*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q1143*	p.Q1302*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			27	4073	-			1302			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.3904C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	43	10.050670	0.99325	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	5.44	5.44	0.79542	.	0.213108	0.29948	U	0.010797	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	13.792	0.63148	0.0:0.0:0.8463:0.1537	.	.	.	.	X	1165;1169;1165;1133;1302;1143;1151;1192;1188	.	ENSP00000323856:Q1302X	Q	-	1	0	PLEC	145073829	0.012000	0.17670	1.000000	0.80357	0.369000	0.29798	0.800000	0.27042	2.534000	0.85438	0.637000	0.83480	CAG		0.731	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		6	14	0	0	0	1	0	6	14				
GNA11	2767	broad.mit.edu	37	19	3119235	3119235	+	Missense_Mutation	SNP	G	G	A	rs529942770		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:3119235G>A	ENST00000078429.4	+	6	1009	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	256					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GCCCTGTTCCGGACCATCATC	0.607			Mis		uveal melanoma								G|||	1	0.000199681	0.0	0.0	5008	,	,		14577	0.0		0.0	False		,,,				2504	0.001					ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		0				endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(766-768)cGg>cAg		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							138.0	117.0	124.0					19																	3119235		2203	4300	6503	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3119235G>A	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.767G>A	19.37:g.3119235G>A	ENSP00000078429:p.Arg256Gln					AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.R256Q	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	6	1009	+		Hepatocellular(1079;0.137)	256					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.767G>A	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	13.84	2.357807	0.41801	.	.	ENSG00000088256	ENST00000078429	D	0.88277	-2.36	3.74	3.74	0.42951	.	0.114616	0.36303	N	0.002668	T	0.81645	0.4866	L	0.31752	0.955	0.43719	D	0.996193	B	0.30937	0.301	B	0.21360	0.034	T	0.82246	-0.0552	10	0.66056	D	0.02	.	14.1296	0.65245	0.0:0.0:1.0:0.0	.	256	P29992	GNA11_HUMAN	Q	256	ENSP00000078429:R256Q	ENSP00000078429:R256Q	R	+	2	0	GNA11	3070235	1.000000	0.71417	0.998000	0.56505	0.863000	0.49368	5.863000	0.69568	1.647000	0.50633	0.491000	0.48974	CGG		0.607	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		58	151	0	0	0	1	0	58	151				
AKAP6	9472	broad.mit.edu	37	14	33014698	33014698	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:33014698A>G	ENST00000280979.4	+	4	1009	c.839A>G	c.(838-840)gAc>gGc	p.D280G	AKAP6_ENST00000557354.1_Missense_Mutation_p.D280G|AKAP6_ENST00000557272.1_Missense_Mutation_p.D280G	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	280					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTAGCTGCTGACTCTATCTCT	0.448																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(838-840)gAc>gGc		A kinase (PRKA) anchor protein 6							133.0	119.0	124.0					14																	33014698		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33014698A>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.839A>G	14.37:g.33014698A>G	ENSP00000280979:p.Asp280Gly					AKAP6_ENST00000557272.1_Missense_Mutation_p.D280G|AKAP6_ENST00000557354.1_Missense_Mutation_p.D280G	p.D280G	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	1009	+	Breast(36;0.0388)|Prostate(35;0.15)		280					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.839A>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.019147	0.54576	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272;ENST00000553547;ENST00000556638	T;T;T;T	0.32753	3.23;1.97;1.97;1.44	5.76	5.76	0.90799	.	0.128871	0.53938	D	0.000053	T	0.34978	0.0916	L	0.56769	1.78	0.38833	D	0.955881	P;P	0.42871	0.682;0.792	B;B	0.40165	0.24;0.321	T	0.37103	-0.9720	10	0.87932	D	0	-10.3151	16.0796	0.80995	1.0:0.0:0.0:0.0	.	280;280	A7E242;Q13023	.;AKAP6_HUMAN	G	280;280;280;38;38	ENSP00000280979:D280G;ENSP00000450531:D280G;ENSP00000451247:D280G;ENSP00000451239:D38G	ENSP00000280979:D280G	D	+	2	0	AKAP6	32084449	1.000000	0.71417	0.959000	0.39883	0.967000	0.64934	6.778000	0.75043	2.206000	0.71126	0.533000	0.62120	GAC		0.448	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		47	145	0	0	0	1	0	47	145				
EMP1	2012	broad.mit.edu	37	12	13364476	13364476	+	Missense_Mutation	SNP	T	T	C	rs147282605	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:13364476T>C	ENST00000256951.5	+	2	231	c.32T>C	c.(31-33)gTc>gCc	p.V11A	EMP1_ENST00000537612.1_Missense_Mutation_p.V11A|EMP1_ENST00000544053.1_Intron|EMP1_ENST00000396301.3_Missense_Mutation_p.V11A|EMP1_ENST00000431267.2_Intron|EMP1_ENST00000542289.1_Splice_Site	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	11					cell growth (GO:0016049)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		ATCTTTGTGGTCCACATCGCT	0.348																																						ENST00000256951.5																			0											c.(31-33)gTc>gCc		epithelial membrane protein 1							307.0	260.0	276.0					12																	13364476		2203	4300	6503	SO:0001583	missense	2012				cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction		g.chr12:13364476T>C	U43916	CCDS8660.1	12p12.3	2008-08-04				ENSG00000134531			3333	protein-coding gene	gene with protein product		602333				8996089, 9126480	Standard	NM_001423		Approved	TMP, CL-20	uc001rbr.3	P54849		ENST00000256951.5:c.32T>C	12.37:g.13364476T>C	ENSP00000256951:p.Val11Ala					EMP1_ENST00000542289.1_Splice_Site|EMP1_ENST00000537612.1_Missense_Mutation_p.V11A|EMP1_ENST00000396301.3_Missense_Mutation_p.V11A|EMP1_ENST00000544053.1_Intron|EMP1_ENST00000431267.2_Intron	p.V11A	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	2	231	+		Prostate(47;0.194)	11					B2R5N1|B4DRR1|O00681|Q13481|Q13834	Missense_Mutation	SNP	ENST00000256951.5	37	c.32T>C	CCDS8660.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.993689	0.74703	.	.	ENSG00000134531	ENST00000256951;ENST00000538364;ENST00000396301;ENST00000537612	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	6.16	6.16	0.99307	.	0.237292	0.43747	D	0.000536	D	0.93074	0.7795	M	0.75447	2.3	0.51767	D	0.999937	D;P	0.63046	0.992;0.939	P;P	0.61328	0.887;0.735	D	0.91305	0.5070	10	0.23302	T	0.38	-1.1939	16.8061	0.85666	0.0:0.0:0.0:1.0	.	11;11	B4DRR1;P54849	.;EMP1_HUMAN	A	11	ENSP00000256951:V11A;ENSP00000441223:V11A;ENSP00000379595:V11A;ENSP00000445319:V11A	ENSP00000256951:V11A	V	+	2	0	EMP1	13255743	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.896000	0.63222	2.367000	0.80283	0.528000	0.53228	GTC		0.348	EMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401019.1	NM_001423		4	206	0	0	0	1	0	4	206				
SLC5A2	6524	broad.mit.edu	37	16	31500266	31500266	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:31500266G>A	ENST00000330498.3	+	11	1365	c.1346G>A	c.(1345-1347)gGc>gAc	p.G449D	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	449					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	GCGGCACAGGGCGGGCAGCTC	0.662																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25	GRCh37	CM034974	SLC5A2	M		c.(1345-1347)gGc>gAc		solute carrier family 5 (sodium/glucose cotransporter), member 2							51.0	47.0	48.0					16																	31500266		2197	4299	6496	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31500266G>A		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1346G>A	16.37:g.31500266G>A	ENSP00000327943:p.Gly449Asp						p.G449D	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			11	1365	+			449					A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.1346G>A	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	33	5.214860	0.95104	.	.	ENSG00000140675	ENST00000330498	D	0.87966	-2.32	4.89	4.89	0.63831	.	0.051518	0.85682	D	0.000000	D	0.89491	0.6730	L	0.43152	1.355	0.58432	D	0.999997	D	0.63880	0.993	P	0.61070	0.883	D	0.89478	0.3748	10	0.49607	T	0.09	.	15.5974	0.76595	0.0:0.0:1.0:0.0	.	449	P31639	SC5A2_HUMAN	D	449	ENSP00000327943:G449D	ENSP00000327943:G449D	G	+	2	0	SLC5A2	31407767	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	7.807000	0.86032	2.549000	0.85964	0.561000	0.74099	GGC		0.662	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			7	81	0	0	0	1	0	7	81				
FRMPD2	143162	broad.mit.edu	37	10	49444587	49444587	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:49444587G>A	ENST00000374201.3	-	9	1233	c.931C>T	c.(931-933)Cca>Tca	p.P311S	FRMPD2_ENST00000305531.3_Missense_Mutation_p.P287S|FRMPD2_ENST00000407470.4_Missense_Mutation_p.P280S	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	311					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATGAACTCTGGCCTGGAAAAC	0.562																																						ENST00000374201.3																			0				NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66						c.(931-933)Cca>Tca		FERM and PDZ domain containing 2							77.0	79.0	78.0					10																	49444587		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49444587G>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.931C>T	10.37:g.49444587G>A	ENSP00000363317:p.Pro311Ser					FRMPD2_ENST00000407470.4_Missense_Mutation_p.P280S|FRMPD2_ENST00000305531.3_Missense_Mutation_p.P287S	p.P311S	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	9	1233	-			311					B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.931C>T	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968141	0.74131	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.78126	-1.07;-1.12;-1.15	5.0	5.0	0.66597	.	.	.	.	.	D	0.87095	0.6092	M	0.75264	2.295	0.43199	D	0.995048	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.88410	0.3021	9	0.87932	D	0	.	14.1417	0.65325	0.0:0.0:1.0:0.0	.	287;311;280	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	S	311;287;280	ENSP00000363317:P311S;ENSP00000307079:P287S;ENSP00000384339:P280S	ENSP00000307079:P287S	P	-	1	0	FRMPD2	49114593	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.379000	0.66196	2.488000	0.83962	0.561000	0.74099	CCA		0.562	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		23	63	0	0	0	1	0	23	63				
CLIC1	1192	broad.mit.edu	37	6	31700051	31700051	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:31700051A>G	ENST00000375780.2	-	6	1079	c.507T>C	c.(505-507)gaT>gaC	p.D169D	DDAH2_ENST00000375789.2_5'Flank|CLIC1_ENST00000395892.1_Silent_p.D169D|DDAH2_ENST00000375792.3_5'Flank|DDAH2_ENST00000375787.2_5'Flank|CLIC1_ENST00000375779.2_Silent_p.D169D|DDAH2_ENST00000480913.1_5'Flank|CLIC1_ENST00000375784.3_Silent_p.D169D			O00299	CLIC1_HUMAN	chloride intracellular channel 1	169	GST C-terminal.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|platelet aggregation (GO:0070527)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of mitochondrial membrane potential (GO:0051881)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|brush border (GO:0005903)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.D169E(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GCTCGTTGCCATCCAAAAACT	0.498																																						ENST00000375780.2																			1	Substitution - Missense(1)	p.D169E(1)	skin(1)	central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						c.(505-507)gaT>gaC		chloride intracellular channel 1							125.0	114.0	118.0					6																	31700051		2203	4300	6503	SO:0001819	synonymous_variant	1192				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity	g.chr6:31700051A>G	U93205	CCDS4719.1	6p21.3	2012-09-26			ENSG00000213719	ENSG00000213719		"""Ion channels / Chloride channels : Intracellular"""	2062	protein-coding gene	gene with protein product		602872				9139710	Standard	NM_001288		Approved	NCC27, p64CLCP	uc003nwr.3	O00299	OTTHUMG00000031103	ENST00000375780.2:c.507T>C	6.37:g.31700051A>G						CLIC1_ENST00000375784.3_Silent_p.D169D|CLIC1_ENST00000395892.1_Silent_p.D169D|CLIC1_ENST00000375779.2_Silent_p.D169D	p.D169D			O00299	CLIC1_HUMAN			6	1079	-			169			GST C-terminal.		Q15089|Q502X1	Silent	SNP	ENST00000375780.2	37	c.507T>C	CCDS4719.1																																																																																				0.498	CLIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076167.3	NM_001288		31	77	0	0	0	1	0	31	77				
IGSF3	3321	broad.mit.edu	37	1	117150895	117150895	+	Silent	SNP	C	C	T	rs61730485		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:117150895C>T	ENST00000369486.3	-	5	1656	c.891G>A	c.(889-891)ccG>ccA	p.P297P	IGSF3_ENST00000318837.6_Silent_p.P297P|IGSF3_ENST00000369483.1_Silent_p.P297P	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	297	Ig-like C2-type 3.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TGAACTCCACCGGCTCGCCCA	0.542																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(889-891)ccG>ccA		immunoglobulin superfamily, member 3							13.0	15.0	14.0					1																	117150895		2109	4190	6299	SO:0001819	synonymous_variant	3321					integral to membrane		g.chr1:117150895C>T	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.891G>A	1.37:g.117150895C>T						IGSF3_ENST00000318837.6_Silent_p.P297P|IGSF3_ENST00000369483.1_Silent_p.P297P	p.P297P	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	5	1656	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	297			Ig-like C2-type 3.		A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	c.891G>A	CCDS30813.1																																																																																				0.542	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		7	26	0	0	0	1	0	7	26				
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:70993145A>G	ENST00000396396.1	+	2	521	c.292A>G	c.(292-294)Atc>Gtc	p.I98V	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.I98V	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)	p.I98V(3)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ACAGAATGGCATCTTGTCGAC	0.478																																						ENST00000396396.1																			3	Substitution - Missense(3)	p.I98V(3)	endometrium(3)	endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						c.(292-294)Atc>Gtc		phosphoglucomutase 5							35.0	38.0	37.0					9																	70993145		2198	4289	6487	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:70993145A>G	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.292A>G	9.37:g.70993145A>G	ENSP00000379678:p.Ile98Val					PGM5_ENST00000396392.1_Missense_Mutation_p.I98V|PGM5_ENST00000604870.2_3'UTR	p.I98V	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN			2	521	+			98					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.292A>G	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	14.68	2.608357	0.46527	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	T;T;T	0.62498	0.02;0.02;0.02	4.37	4.37	0.52481	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.137251	0.48286	U	0.000197	T	0.73853	0.3640	M	0.88310	2.945	0.45502	D	0.998467	B	0.31227	0.314	P	0.45167	0.472	T	0.76953	-0.2768	10	0.72032	D	0.01	.	8.4592	0.32917	0.8259:0.0:0.0:0.1741	.	98	Q15124	PGM5_HUMAN	V	98;98;98;64	ENSP00000379678:I98V;ENSP00000379674:I98V;ENSP00000394864:I64V	ENSP00000366531:I98V	I	+	1	0	PGM5	70182965	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.606000	0.61126	1.730000	0.51580	0.445000	0.29226	ATC		0.478	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		12	99	0	0	0	1	0	12	99				
TRPC7	57113	broad.mit.edu	37	5	135692879	135692879	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:135692879G>A	ENST00000513104.1	-	2	479	c.197C>T	c.(196-198)tCc>tTc	p.S66F	TRPC7_ENST00000355180.3_Missense_Mutation_p.S66F|TRPC7_ENST00000426057.2_Missense_Mutation_p.S66F	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	66					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGGGTCTTGGACTCCTCCAG	0.592																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(196-198)tCc>tTc		transient receptor potential cation channel, subfamily C, member 7							90.0	103.0	99.0					5																	135692879		2188	4287	6475	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692879G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.197C>T	5.37:g.135692879G>A	ENSP00000426070:p.Ser66Phe					TRPC7_ENST00000355180.3_Missense_Mutation_p.S66F|TRPC7_ENST00000426057.2_Missense_Mutation_p.S66F	p.S66F	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	479	-			66					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.197C>T	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714540	0.68730	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.64618	-0.11;-0.11;-0.11	5.2	5.2	0.72013	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	L	0.35542	1.07	0.34183	D	0.671133	P;P;P;P	0.44946	0.846;0.601;0.828;0.828	B;B;P;P	0.55667	0.272;0.185;0.781;0.61	T	0.71251	-0.4648	10	0.37606	T	0.19	-22.3082	14.5283	0.67905	0.0:0.146:0.8539:0.0	.	66;66;66;66	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	F	66	ENSP00000347312:S66F;ENSP00000441628:S66F;ENSP00000426070:S66F	ENSP00000265193:S66F	S	-	2	0	TRPC7	135720778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.365000	0.66116	2.691000	0.91804	0.655000	0.94253	TCC		0.592	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		5	205	0	0	0	1	0	5	205				
IGFALS	3483	broad.mit.edu	37	16	1841424	1841424	+	Missense_Mutation	SNP	C	C	T	rs370683639		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:1841424C>T	ENST00000215539.3	-	2	1105	c.995G>A	c.(994-996)cGc>cAc	p.R332H	IGFALS_ENST00000415638.3_Missense_Mutation_p.R370H			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	332					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CTCAAAGCTGCGCTCAGCCAG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		17452	0.001		0.0	False		,,,				2504	0.0					ENST00000415638.3																			0				endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						c.(1108-1110)cGc>cAc		insulin-like growth factor binding protein, acid labile subunit							30.0	33.0	32.0					16																	1841424		2197	4298	6495	SO:0001583	missense	3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1841424C>T	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.995G>A	16.37:g.1841424C>T	ENSP00000215539:p.Arg332His					IGFALS_ENST00000215539.3_Missense_Mutation_p.R332H	p.R370H	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN			2	1188	-			332					B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	37	c.1109G>A	CCDS10446.1	.	.	.	.	.	.	.	.	.	.	C	7.113	0.576453	0.13686	.	.	ENSG00000099769	ENST00000215539;ENST00000415638	T;T	0.57752	0.38;0.38	5.22	-5.09	0.02920	.	0.648544	0.14724	N	0.302169	T	0.36991	0.0987	L	0.28192	0.835	0.09310	N	1	B;B	0.27351	0.176;0.141	B;B	0.26094	0.066;0.028	T	0.04242	-1.0966	10	0.36615	T	0.2	.	17.5561	0.87890	0.0:0.8418:0.0:0.1582	.	370;332	E9PGU3;P35858	.;ALS_HUMAN	H	332;370	ENSP00000215539:R332H;ENSP00000416683:R370H	ENSP00000215539:R332H	R	-	2	0	IGFALS	1781425	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.981000	0.29526	-1.041000	0.03266	-0.258000	0.10820	CGC		0.667	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			9	25	0	0	0	1	0	9	25				
CLASRP	11129	broad.mit.edu	37	19	45567447	45567447	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:45567447G>A	ENST00000221455.3	+	12	1181	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	CLASRP_ENST00000544944.2_Silent_p.Q361Q|CLASRP_ENST00000391953.4_Silent_p.Q299Q	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	361					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CACCTCCCCAGCCTGGCGGCC	0.721																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(1081-1083)caG>caA		CLK4-associating serine/arginine rich protein							7.0	9.0	8.0					19																	45567447		2125	4192	6317	SO:0001819	synonymous_variant	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45567447G>A	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1083G>A	19.37:g.45567447G>A						CLASRP_ENST00000391953.4_Silent_p.Q299Q|CLASRP_ENST00000221455.3_Silent_p.Q361Q	p.Q361Q			Q8N2M8	CLASR_HUMAN			11	1775	+			361					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Silent	SNP	ENST00000221455.3	37	c.1083G>A	CCDS12652.2																																																																																				0.721	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		7	29	0	0	0	1	0	7	29				
ITPR1	3708	broad.mit.edu	37	3	4715983	4715983	+	Silent	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:4715983A>C	ENST00000443694.2	+	19	2509	c.2509A>C	c.(2509-2511)Agg>Cgg	p.R837R	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Silent_p.R837R|ITPR1_ENST00000423119.2_Silent_p.R852R|ITPR1_ENST00000357086.4_Silent_p.R852R|ITPR1_ENST00000354582.6_Silent_p.R852R|ITPR1_ENST00000456211.2_Silent_p.R837R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	852					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GGTTTGTCAGAGGTTCCCTTT	0.388																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(2509-2511)Agg>Cgg		inositol 1,4,5-trisphosphate receptor, type 1							140.0	134.0	136.0					3																	4715983		1837	4084	5921	SO:0001819	synonymous_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4715983A>C	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2509A>C	3.37:g.4715983A>C						ITPR1_ENST00000456211.2_Silent_p.R837R|ITPR1_ENST00000423119.2_Silent_p.R852R|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Silent_p.R837R|ITPR1_ENST00000354582.6_Silent_p.R852R|ITPR1_ENST00000357086.4_Silent_p.R852R	p.R837R	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	21	2859	+			852					E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	c.2509A>C	CCDS54551.1																																																																																				0.388	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		4	7	0	0	0	1	0	4	7				
PALLD	23022	broad.mit.edu	37	4	169845472	169845472	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:169845472A>G	ENST00000505667.1	+	19	3298	c.3125A>G	c.(3124-3126)tAc>tGc	p.Y1042C	PALLD_ENST00000507735.1_Missense_Mutation_p.Y538C|PALLD_ENST00000261509.6_Missense_Mutation_p.Y1025C|PALLD_ENST00000335742.7_Missense_Mutation_p.Y867C|PALLD_ENST00000512127.1_Missense_Mutation_p.Y643C|CBR4_ENST00000509108.1_Intron			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1249	Ig-like C2-type 3.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCTGATGGGTACCCAGTGCGG	0.448									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000335742.7																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(2599-2601)tAc>tGc		palladin, cytoskeletal associated protein							83.0	82.0	82.0					4																	169845472		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169845472A>G	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.3125A>G	4.37:g.169845472A>G	ENSP00000425556:p.Tyr1042Cys					CBR4_ENST00000509108.1_Intron|PALLD_ENST00000505667.1_Missense_Mutation_p.Y1042C|PALLD_ENST00000507735.1_Missense_Mutation_p.Y538C|PALLD_ENST00000512127.1_Missense_Mutation_p.Y643C|PALLD_ENST00000261509.6_Missense_Mutation_p.Y1025C	p.Y867C			Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	19	3957	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	1249			Interaction with ACTN.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.2600A>G	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	A	14.59	2.581672	0.46006	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735	T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.29660	U	0.011538	T	0.74061	0.3667	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.69078	0.997;0.99;0.994;0.997	P;P;P;P	0.60173	0.87;0.819;0.819;0.87	T	0.76094	-0.3085	10	0.52906	T	0.07	.	11.8217	0.52242	0.8614:0.0:0.0:0.1386	.	1042;1249;643;1025	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	C	1025;867;1042;643;538	ENSP00000261509:Y1025C;ENSP00000336735:Y867C;ENSP00000425556:Y1042C;ENSP00000426947:Y643C;ENSP00000424016:Y538C	ENSP00000261509:Y1025C	Y	+	2	0	PALLD	170082047	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	6.026000	0.70873	2.206000	0.71126	0.477000	0.44152	TAC		0.448	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		22	45	0	0	0	1	0	22	45				
DNAH2	146754	broad.mit.edu	37	17	7726882	7726882	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:7726882G>A	ENST00000572933.1	+	74	12725	c.11265G>A	c.(11263-11265)gaG>gaA	p.E3755E	DNAH2_ENST00000389173.2_Silent_p.E3755E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3755					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(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACTCCTTTGAGCAGTACCCTC	0.532																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(11263-11265)gaG>gaA		dynein, axonemal, heavy chain 2							173.0	132.0	146.0					17																	7726882		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7726882G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11265G>A	17.37:g.7726882G>A						DNAH2_ENST00000389173.2_Silent_p.E3755E	p.E3755E			Q9P225	DYH2_HUMAN			74	12725	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3755					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.11265G>A	CCDS32551.1																																																																																				0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		4	99	0	0	0	1	0	4	99				
C9orf41	138199	broad.mit.edu	37	9	77599851	77599851	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:77599851A>G	ENST00000376834.3	-	7	1252	c.1100T>C	c.(1099-1101)gTt>gCt	p.V367A	C9orf41_ENST00000376837.3_3'UTR|RP11-197P3.4_ENST00000455609.1_RNA	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	367										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						CTGCAGAACAACGTTTTTTAT	0.358																																						ENST00000376834.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(1099-1101)gTt>gCt		chromosome 9 open reading frame 41							159.0	149.0	153.0					9																	77599851		2203	4300	6503	SO:0001583	missense	138199							g.chr9:77599851A>G	AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.1100T>C	9.37:g.77599851A>G	ENSP00000366030:p.Val367Ala					RP11-197P3.4_ENST00000455609.1_RNA|C9orf41_ENST00000376837.3_3'UTR	p.V367A	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN			7	1252	-			367					Q7Z383|Q8N7C5	Missense_Mutation	SNP	ENST00000376834.3	37	c.1100T>C	CCDS6649.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.078651	0.55753	.	.	ENSG00000156017	ENST00000376834	T	0.03301	3.98	6.08	4.93	0.64822	N2227-like (1);	0.057466	0.64402	D	0.000001	T	0.05227	0.0139	L	0.28740	0.885	0.80722	D	1	B	0.30763	0.294	B	0.39068	0.289	T	0.49688	-0.8913	10	0.38643	T	0.18	-17.0952	12.7002	0.57026	0.8764:0.0:0.0:0.1236	.	367	Q8N4J0	CI041_HUMAN	A	367	ENSP00000366030:V367A	ENSP00000366030:V367A	V	-	2	0	C9orf41	76789671	1.000000	0.71417	0.974000	0.42286	0.998000	0.95712	6.013000	0.70776	1.095000	0.41419	0.482000	0.46254	GTT		0.358	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1	NM_152420		9	61	0	0	0	1	0	9	61				
ARVCF	421	broad.mit.edu	37	22	19967712	19967712	+	Missense_Mutation	SNP	G	G	A	rs377012111		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:19967712G>A	ENST00000263207.3	-	6	1241	c.950C>T	c.(949-951)gCg>gTg	p.A317V	ARVCF_ENST00000487793.1_5'Flank|ARVCF_ENST00000401994.1_Missense_Mutation_p.A254V|ARVCF_ENST00000406522.1_Missense_Mutation_p.A254V|ARVCF_ENST00000344269.3_Missense_Mutation_p.A254V|ARVCF_ENST00000406259.1_Missense_Mutation_p.A317V	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	317					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CATTGGGAACGCAGGCCGCTC	0.711																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(949-951)gCg>gTg		armadillo repeat gene deleted in velocardiofacial syndrome		G	VAL/ALA	0,3946		0,0,1973	15.0	17.0	16.0		950	0.4	0.0	22		16	1,7931		0,1,3965	no	missense	ARVCF	NM_001670.2	64	0,1,5938	AA,AG,GG		0.0126,0.0,0.0084	benign	317/963	19967712	1,11877	1973	3966	5939	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19967712G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.950C>T	22.37:g.19967712G>A	ENSP00000263207:p.Ala317Val					ARVCF_ENST00000401994.1_Missense_Mutation_p.A254V|ARVCF_ENST00000344269.3_Missense_Mutation_p.A254V|ARVCF_ENST00000406522.1_Missense_Mutation_p.A254V|ARVCF_ENST00000406259.1_Missense_Mutation_p.A317V	p.A317V	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			6	1241	-	Colorectal(54;0.0993)		317					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.950C>T	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332669	0.41297	0.0	1.26E-4	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.66638	-0.22;-0.16;-0.16;-0.16;-0.22	5.25	0.418	0.16429	.	3.751840	0.03161	U	0.169339	T	0.47192	0.1432	N	0.08118	0	0.23126	N	0.998254	B	0.02656	0.0	B	0.01281	0.0	T	0.29119	-1.0022	9	.	.	.	-17.6567	10.099	0.42493	0.2909:0.0:0.7091:0.0	.	317	O00192	ARVC_HUMAN	V	317;254;254;254;317	ENSP00000263207:A317V;ENSP00000342042:A254V;ENSP00000384341:A254V;ENSP00000384732:A254V;ENSP00000385444:A317V	.	A	-	2	0	ARVCF	18347712	1.000000	0.71417	0.024000	0.17045	0.011000	0.07611	3.064000	0.49986	0.001000	0.14605	-0.229000	0.12294	GCG		0.711	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		17	44	0	0	0	1	0	17	44				
DCBLD2	131566	broad.mit.edu	37	3	98538090	98538090	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:98538090T>A	ENST00000326840.6	-	8	1405	c.1043A>T	c.(1042-1044)tAc>tTc	p.Y348F	DCBLD2_ENST00000326857.9_Missense_Mutation_p.Y348F	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	348	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TAACCACTGGTATTCATCAGT	0.378																																						ENST00000326840.6																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						c.(1042-1044)tAc>tTc		discoidin, CUB and LCCL domain containing 2							54.0	46.0	48.0					3																	98538090		1818	4074	5892	SO:0001583	missense	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98538090T>A		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1043A>T	3.37:g.98538090T>A	ENSP00000321573:p.Tyr348Phe					DCBLD2_ENST00000326857.9_Missense_Mutation_p.Y348F	p.Y348F	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN			8	1405	-			348			F5/8 type C.		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	c.1043A>T	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	T	8.273	0.813863	0.16537	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857	D;D	0.98135	-4.74;-4.74	5.25	5.25	0.73442	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.506167	0.21909	N	0.067330	D	0.93919	0.8054	L	0.48935	1.535	0.20563	N	0.999887	P;B	0.36535	0.557;0.175	B;B	0.30943	0.104;0.122	D	0.86662	0.1905	10	0.14252	T	0.57	-11.6439	8.822	0.35032	0.1676:0.0:0.0:0.8324	.	348;348	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	F	348;299;348	ENSP00000321573:Y348F;ENSP00000321646:Y348F	ENSP00000321573:Y348F	Y	-	2	0	DCBLD2	100020780	0.449000	0.25689	0.670000	0.29842	0.528000	0.34623	1.726000	0.38085	2.115000	0.64714	0.477000	0.44152	TAC		0.378	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		4	10	0	0	0	1	0	4	10				
KLHDC8A	55220	broad.mit.edu	37	1	205312508	205312508	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:205312508G>A	ENST00000367156.3	-	5	1041	c.225C>T	c.(223-225)acC>acT	p.T75T	KLHDC8A_ENST00000539253.1_Silent_p.T75T|KLHDC8A_ENST00000606529.1_5'Flank|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000367155.3_Silent_p.T75T	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	75										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TCCCCAGGGCGGTGACGGCCA	0.667																																						ENST00000367156.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(223-225)acC>acT		kelch domain containing 8A							66.0	69.0	68.0					1																	205312508		2203	4299	6502	SO:0001819	synonymous_variant	55220							g.chr1:205312508G>A		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.225C>T	1.37:g.205312508G>A						KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000367155.3_Silent_p.T75T|KLHDC8A_ENST00000539253.1_Silent_p.T75T	p.T75T	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		5	1041	-	Breast(84;0.23)		75					B3KU70|Q9NVG5	Silent	SNP	ENST00000367156.3	37	c.225C>T	CCDS30985.1																																																																																				0.667	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		56	173	0	0	0	1	0	56	173				
PRPH	5630	broad.mit.edu	37	12	49689166	49689166	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:49689166T>C	ENST00000257860.4	+	1	1682	c.183T>C	c.(181-183)cgT>cgC	p.R61R	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.R61R(1)		kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GCAGCTTCCGTAGCCCCCGAG	0.736																																						ENST00000257860.4																			1	Substitution - coding silent(1)	p.R61R(1)	lung(1)	kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						c.(181-183)cgT>cgC		peripherin							8.0	9.0	9.0					12																	49689166		2161	4216	6377	SO:0001819	synonymous_variant	5630						structural molecule activity	g.chr12:49689166T>C		CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.183T>C	12.37:g.49689166T>C						RP11-161H23.9_ENST00000553259.1_RNA	p.R61R	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN			1	1682	+			61			Head.		Q5TFH5|Q6DK65	Silent	SNP	ENST00000257860.4	37	c.183T>C	CCDS8783.1																																																																																				0.736	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393381.1	NM_006262		7	27	0	0	0	1	0	7	27				
TRAV12-3	28672	broad.mit.edu	37	14	22434142	22434142	+	RNA	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:22434142C>T	ENST00000390442.3	+	0	251									T cell receptor alpha variable 12-3																		CCAGAAAAGGCCCTGAGTTGC	0.433																																						ENST00000390442.3																			0																				151.0	149.0	150.0					14																	22434142		1926	4120	6046			28672							g.chr14:22434142C>T	X06193		14q11.2	2012-02-07			ENSG00000211794	ENSG00000211794		"""T cell receptors / TRA locus"""	12107	other	T cell receptor gene						3501368, 8951372	Standard	NG_001332		Approved	TRAV123, TCRAV2S2, TCRAV12S3			OTTHUMG00000170640		14.37:g.22434142C>T														0	251	+									RNA	SNP	ENST00000390442.3	37																																																																																						0.433	TRAV12-3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409888.1	NG_001332		8	244	0	0	0	1	0	8	244				
NLN	57486	broad.mit.edu	37	5	65105442	65105442	+	Missense_Mutation	SNP	G	G	A	rs372513324		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:65105442G>A	ENST00000380985.5	+	10	1806	c.1628G>A	c.(1627-1629)cGa>cAa	p.R543Q	NLN_ENST00000502464.1_Missense_Mutation_p.R439Q	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	543						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		GATTCCCTCCGAAGATTGTCA	0.423																																						ENST00000380985.5																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1627-1629)cGa>cAa		neurolysin (metallopeptidase M3 family)		G	GLN/ARG	0,4406		0,0,2203	124.0	124.0	124.0		1628	5.7	1.0	5		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLN	NM_020726.4	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	543/705	65105442	1,13005	2203	4300	6503	SO:0001583	missense	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65105442G>A	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1628G>A	5.37:g.65105442G>A	ENSP00000370372:p.Arg543Gln					NLN_ENST00000502464.1_Missense_Mutation_p.R439Q	p.R543Q	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	10	1806	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	543					Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	c.1628G>A	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605674	0.46527	0.0	1.16E-4	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159;ENST00000511299	T;T;T	0.11169	2.8;2.8;2.8	5.66	5.66	0.87406	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.104840	0.64402	D	0.000004	T	0.04679	0.0127	N	0.10707	0.03	0.47245	D	0.999366	B;B	0.25351	0.034;0.124	B;B	0.14023	0.004;0.01	T	0.47100	-0.9143	10	0.16420	T	0.52	-8.3968	7.4065	0.26993	0.1989:0.0:0.8011:0.0	.	220;543	Q96K48;Q9BYT8	.;NEUL_HUMAN	Q	543;439;543;253	ENSP00000370372:R543Q;ENSP00000423214:R439Q;ENSP00000427417:R253Q	ENSP00000339283:R543Q	R	+	2	0	NLN	65141198	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	3.455000	0.52993	2.675000	0.91044	0.655000	0.94253	CGA		0.423	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			19	71	0	0	0	1	0	19	71				
COPB2	9276	broad.mit.edu	37	3	139096923	139096923	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:139096923T>C	ENST00000333188.5	-	5	645	c.464A>G	c.(463-465)aAc>aGc	p.N155S	COPB2_ENST00000510491.1_5'Flank|COPB2_ENST00000507777.1_Missense_Mutation_p.N126S	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	155					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						AAACTGATTGTTATCTTTGGG	0.408																																						ENST00000333188.5																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(463-465)aAc>aGc		coatomer protein complex, subunit beta 2 (beta prime)							226.0	194.0	205.0					3																	139096923		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139096923T>C	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.464A>G	3.37:g.139096923T>C	ENSP00000329419:p.Asn155Ser					COPB2_ENST00000507777.1_Missense_Mutation_p.N126S	p.N155S	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN			5	645	-			155					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.464A>G	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.416602	0.42918	.	.	ENSG00000184432	ENST00000333188;ENST00000507777;ENST00000515006	T;T;T	0.80824	-1.42;2.27;-1.42	5.35	5.35	0.76521	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69540	0.3122	N	0.20530	0.585	0.80722	D	1	B;B	0.17465	0.003;0.022	B;B	0.25405	0.017;0.06	T	0.64132	-0.6479	10	0.19590	T	0.45	-20.8042	15.3248	0.74150	0.0:0.0:0.0:1.0	.	155;155	B4E2C9;P35606	.;COPB2_HUMAN	S	155;126;134	ENSP00000329419:N155S;ENSP00000422295:N126S;ENSP00000423271:N134S	ENSP00000329419:N155S	N	-	2	0	COPB2	140579613	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.190000	0.72057	2.016000	0.59253	0.528000	0.53228	AAC		0.408	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		51	149	0	0	0	1	0	51	149				
SLC39A4	55630	broad.mit.edu	37	8	145638731	145638731	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145638731A>G	ENST00000301305.3	-	10	1622	c.1517T>C	c.(1516-1518)gTg>gCg	p.V506A	SLC39A4_ENST00000531013.1_5'UTR|SLC39A4_ENST00000276833.5_Missense_Mutation_p.V481A	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	506					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GAAGTTGTGCACGGCGTCGCC	0.687																																						ENST00000276833.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14						c.(1441-1443)gTg>gCg		solute carrier family 39 (zinc transporter), member 4							14.0	18.0	16.0					8																	145638731		2188	4286	6474	SO:0001583	missense	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145638731A>G	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"""Solute carriers"""	17129	protein-coding gene	gene with protein product		607059	"""acrodermatitis enteropathica, zinc-deficiency type"""	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.1517T>C	8.37:g.145638731A>G	ENSP00000301305:p.Val506Ala					SLC39A4_ENST00000531013.1_5'UTR|SLC39A4_ENST00000301305.3_Missense_Mutation_p.V506A	p.V481A	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		9	1745	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		506					Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	37	c.1442T>C	CCDS6424.1	.	.	.	.	.	.	.	.	.	.	A	33	5.263025	0.95399	.	.	ENSG00000147804	ENST00000276833;ENST00000301305	T;T	0.52295	0.67;0.67	4.73	4.73	0.59995	.	0.211018	0.39544	N	0.001338	T	0.39462	0.1079	L	0.31294	0.92	0.39636	D	0.970253	P;B;P	0.38280	0.625;0.204;0.58	B;B;B	0.40256	0.252;0.087;0.324	T	0.46965	-0.9153	10	0.87932	D	0	-15.8754	12.2016	0.54328	1.0:0.0:0.0:0.0	.	506;481;506	Q6P5W5;A6NDY5;A8K3E8	S39A4_HUMAN;.;.	A	481;506	ENSP00000276833:V481A;ENSP00000301305:V506A	ENSP00000276833:V481A	V	-	2	0	SLC39A4	145609539	1.000000	0.71417	0.761000	0.31378	0.908000	0.53690	4.787000	0.62432	1.771000	0.52183	0.374000	0.22700	GTG		0.687	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			7	34	0	0	0	1	0	7	34				
MMP14	4323	broad.mit.edu	37	14	23313942	23313942	+	Silent	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23313942T>G	ENST00000311852.6	+	8	1515	c.1254T>G	c.(1252-1254)gcT>gcG	p.A418A	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	418					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	TTGATGCTGCTCTCTTCTGGA	0.552																																						ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1252-1254)gcT>gcG		matrix metallopeptidase 14 (membrane-inserted)							121.0	125.0	124.0					14																	23313942		2203	4300	6503	SO:0001819	synonymous_variant	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23313942T>G		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.1254T>G	14.37:g.23313942T>G						MMP14_ENST00000548162.1_3'UTR	p.A418A	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	8	1515	+	all_cancers(95;9.47e-05)		418			Hemopexin-like 3.		A8K5L0|Q6GSF3|Q92678	Silent	SNP	ENST00000311852.6	37	c.1254T>G	CCDS9577.1																																																																																				0.552	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		13	141	0	0	0	1	0	13	141				
CPT1C	126129	broad.mit.edu	37	19	50208489	50208489	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:50208489C>T	ENST00000392518.4	+	10	1270	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	CPT1C_ENST00000405931.2_Missense_Mutation_p.R289C|CPT1C_ENST00000354199.5_Missense_Mutation_p.R300C|CPT1C_ENST00000598293.1_Missense_Mutation_p.R300C|CPT1C_ENST00000323446.5_Missense_Mutation_p.R300C	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	300					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GATGGGAATGCGCCCCTTATG	0.587																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(898-900)Cgc>Tgc		carnitine palmitoyltransferase 1C							156.0	142.0	147.0					19																	50208489		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50208489C>T	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.898C>T	19.37:g.50208489C>T	ENSP00000376303:p.Arg300Cys					CPT1C_ENST00000323446.5_Missense_Mutation_p.R300C|CPT1C_ENST00000405931.2_Missense_Mutation_p.R289C|CPT1C_ENST00000354199.5_Missense_Mutation_p.R300C|CPT1C_ENST00000598293.1_Missense_Mutation_p.R300C	p.R300C	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	10	1270	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	300					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.898C>T	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414462	0.62511	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	4.34	0.962	0.19643	.	0.000000	0.48767	D	0.000176	D	0.88276	0.6393	L	0.34521	1.04	0.39757	D	0.971974	D;D;D;P	0.89917	0.998;1.0;0.987;0.888	D;D;P;P	0.67725	0.953;0.942;0.707;0.806	D	0.85763	0.1350	10	0.87932	D	0	-25.342	6.8395	0.23955	0.3579:0.4687:0.1734:0.0	.	171;300;289;300	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	C	300;300;289;300;171	ENSP00000376303:R300C;ENSP00000346138:R300C;ENSP00000384465:R289C;ENSP00000319343:R300C	ENSP00000295404:R171C	R	+	1	0	CPT1C	54900301	0.938000	0.31826	0.807000	0.32361	0.962000	0.63368	-0.265000	0.08644	0.121000	0.18284	0.561000	0.74099	CGC		0.587	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		52	151	0	0	0	1	0	52	151				
COLGALT2	23127	broad.mit.edu	37	1	183944273	183944273	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:183944273T>C	ENST00000361927.4	-	3	821	c.450A>G	c.(448-450)gcA>gcG	p.A150A	COLGALT2_ENST00000546159.1_Silent_p.A150A	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	150					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										TTCGAAGGGCTGCCTGTCGTA	0.428																																						ENST00000361927.4																			0											c.(448-450)gcA>gcG		collagen beta(1-O)galactosyltransferase 2							118.0	112.0	114.0					1																	183944273		2203	4300	6503	SO:0001819	synonymous_variant	23127							g.chr1:183944273T>C	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.450A>G	1.37:g.183944273T>C						COLGALT2_ENST00000546159.1_Silent_p.A150A	p.A150A	NM_015101.2	NP_055916.1					3	821	-								O60327|Q9BZR0	Silent	SNP	ENST00000361927.4	37	c.450A>G	CCDS1360.1																																																																																				0.428	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		6	82	0	0	0	1	0	6	82				
CACNA2D1	781	broad.mit.edu	37	7	81978944	81978944	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:81978944C>T	ENST00000356253.5	-	2	372	c.117G>A	c.(115-117)aaG>aaA	p.K39K	CACNA2D1_ENST00000356860.3_Silent_p.K39K|CACNA2D1_ENST00000423588.1_Silent_p.K39K			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	39					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTTCTTGCATCTTATCCACCC	0.363																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(115-117)aaG>aaA		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						193.0	176.0	182.0					7																	81978944		2203	4300	6503	SO:0001819	synonymous_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81978944C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.117G>A	7.37:g.81978944C>T						CACNA2D1_ENST00000423588.1_Silent_p.K39K|CACNA2D1_ENST00000356253.5_Silent_p.K39K	p.K39K	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			2	455	-			39					Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37	c.117G>A																																																																																					0.363	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				15	85	0	0	0	1	0	15	85				
IL23R	149233	broad.mit.edu	37	1	67724679	67724679	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:67724679A>G	ENST00000347310.5	+	11	1929	c.1758A>G	c.(1756-1758)gaA>gaG	p.E586E	IL23R_ENST00000395227.1_Silent_p.E331E|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	586					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CTATTCCAGAACAGACCCTGC	0.398																																						ENST00000347310.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(1756-1758)gaA>gaG		interleukin 23 receptor							80.0	80.0	80.0					1																	67724679		2203	4300	6503	SO:0001819	synonymous_variant	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67724679A>G	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1758A>G	1.37:g.67724679A>G						IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.E331E	p.E586E	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN			11	1929	+			586					C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Silent	SNP	ENST00000347310.5	37	c.1758A>G	CCDS637.1	.	.	.	.	.	.	.	.	.	.	A	7.752	0.703533	0.15172	.	.	ENSG00000162594	ENST00000425614	.	.	.	5.4	-1.27	0.09347	.	.	.	.	.	T	0.32882	0.0844	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29488	-1.0010	4	.	.	.	-19.2467	5.0521	0.14514	0.3813:0.1863:0.4324:0.0	.	.	.	.	S	348	.	.	N	+	2	0	IL23R	67497267	0.139000	0.22563	0.671000	0.29857	0.827000	0.46813	-0.934000	0.03955	0.068000	0.16574	0.533000	0.62120	AAC		0.398	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		21	110	0	0	0	1	0	21	110				
DLG5	9231	broad.mit.edu	37	10	79581222	79581222	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:79581222G>A	ENST00000372391.2	-	15	3025	c.3020C>T	c.(3019-3021)gCg>gTg	p.A1007V	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1007	Pro-rich.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGAGGCCCCGCCCTCTTGGA	0.592																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3019-3021)gCg>gTg		discs, large homolog 5 (Drosophila)							37.0	48.0	44.0					10																	79581222		2083	4112	6195	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79581222G>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3020C>T	10.37:g.79581222G>A	ENSP00000361467:p.Ala1007Val					DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron	p.A1007V	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	3025	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1007			Pro-rich.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.3020C>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	5.801	0.332030	0.10956	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	T	0.04119	3.7	5.87	-1.85	0.07784	.	0.969624	0.08390	N	0.953021	T	0.04137	0.0115	L	0.44542	1.39	0.24179	N	0.995594	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.48328	-0.9045	10	0.15499	T	0.54	.	6.0329	0.19690	0.2783:0.0:0.4441:0.2776	.	897;1007	Q8TDM6-4;Q8TDM6	.;DLG5_HUMAN	V	1007;556	ENSP00000361467:A1007V	ENSP00000361467:A1007V	A	-	2	0	DLG5	79251228	0.870000	0.30015	0.030000	0.17652	0.030000	0.12068	2.301000	0.43628	-0.156000	0.11079	-0.345000	0.07892	GCG		0.592	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			42	102	0	0	0	1	0	42	102				
TCERG1L	256536	broad.mit.edu	37	10	132891465	132891465	+	Missense_Mutation	SNP	C	C	T	rs139123582	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:132891465C>T	ENST00000368642.4	-	12	1806	c.1721G>A	c.(1720-1722)cGg>cAg	p.R574Q	RP11-462G8.3_ENST00000436942.1_RNA	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	574										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TTCCTTGTCCCGTTTCTTAAG	0.478													C|||	17	0.00339457	0.0	0.0029	5008	,	,		15571	0.0		0.0089	False		,,,				2504	0.0061					ENST00000368642.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1720-1722)cGg>cAg		transcription elongation regulator 1-like		C	GLN/ARG	7,4399	12.9+/-30.5	0,7,2196	111.0	109.0	110.0		1721	4.9	1.0	10	dbSNP_134	110	81,8519	48.5+/-108.0	0,81,4219	yes	missense	TCERG1L	NM_174937.3	43	0,88,6415	TT,TC,CC		0.9419,0.1589,0.6766	probably-damaging	574/587	132891465	88,12918	2203	4300	6503	SO:0001583	missense	256536							g.chr10:132891465C>T	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1721G>A	10.37:g.132891465C>T	ENSP00000357631:p.Arg574Gln						p.R574Q	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	12	1806	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	574					Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.1721G>A	CCDS7662.2	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	C	20.7	4.037143	0.75617	0.001589	0.009419	ENSG00000176769	ENST00000368642	T	0.24538	1.85	4.91	4.91	0.64330	FF domain (1);	0.000000	0.50627	D	0.000108	T	0.39145	0.1067	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.38845	-0.9642	10	0.59425	D	0.04	-2.9132	17.0994	0.86645	0.0:1.0:0.0:0.0	.	574	Q5VWI1	TCRGL_HUMAN	Q	574	ENSP00000357631:R574Q	ENSP00000357631:R574Q	R	-	2	0	TCERG1L	132781455	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.288000	0.72679	2.268000	0.75426	0.563000	0.77884	CGG		0.478	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		13	53	0	0	0	1	0	13	53				
C6orf10	10665	broad.mit.edu	37	6	32260981	32260981	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:32260981T>G	ENST00000447241.2	-	23	1641	c.1469A>C	c.(1468-1470)aAg>aCg	p.K490T	C6orf10_ENST00000527965.1_Missense_Mutation_p.K474T|C6orf10_ENST00000375007.4_Missense_Mutation_p.K488T|C6orf10_ENST00000533191.1_Missense_Mutation_p.K488T|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000375015.4_Missense_Mutation_p.K489T	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	490	Lys-rich.					integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						AAAACTCTCCTTCTTTTCTTG	0.373																																						ENST00000375015.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						c.(1465-1467)aAg>aCg		chromosome 6 open reading frame 10							189.0	210.0	202.0					6																	32260981		1511	2709	4220	SO:0001583	missense	10665					integral to membrane		g.chr6:32260981T>G	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1469A>C	6.37:g.32260981T>G	ENSP00000415517:p.Lys490Thr					C6orf10_ENST00000527965.1_Missense_Mutation_p.K474T|C6orf10_ENST00000447241.2_Missense_Mutation_p.K490T|C6orf10_ENST00000375007.4_Missense_Mutation_p.K488T|C6orf10_ENST00000533191.1_Missense_Mutation_p.K488T|C6orf10_ENST00000442822.2_Intron	p.K489T			Q5SRN2	CF010_HUMAN			26	1666	-			490			Lys-rich.		A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	ENST00000447241.2	37	c.1466A>C	CCDS34422.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.294531	0.40594	.	.	ENSG00000204296	ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T	0.05447	3.46;3.46;3.46;3.46;3.44	3.7	-5.59	0.02505	.	.	.	.	.	T	0.01730	0.0055	M	0.62723	1.935	0.09310	N	1	B	0.24823	0.112	B	0.20767	0.031	T	0.44636	-0.9315	9	0.52906	T	0.07	0.0024	1.6857	0.02841	0.1351:0.3285:0.1379:0.3985	.	490	Q5SRN2	CF010_HUMAN	T	490;489;488;474;488;487;487	ENSP00000415517:K490T;ENSP00000364155:K489T;ENSP00000431199:K488T;ENSP00000435103:K474T;ENSP00000364146:K488T	ENSP00000303292:K487T	K	-	2	0	C6orf10	32368959	0.044000	0.20184	0.000000	0.03702	0.003000	0.03518	1.247000	0.32815	-1.038000	0.03279	-1.310000	0.01310	AAG		0.373	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		10	180	0	0	0	1	0	10	180				
HCLS1	3059	broad.mit.edu	37	3	121351340	121351340	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:121351340T>C	ENST00000314583.3	-	12	1170	c.1079A>G	c.(1078-1080)tAc>tGc	p.Y360C	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.Y323C	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	360					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		ctcTGCTTCGTACACTGGCTC	0.592																																						ENST00000314583.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1078-1080)tAc>tGc		hematopoietic cell-specific Lyn substrate 1							108.0	104.0	105.0					3																	121351340		2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121351340T>C		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1079A>G	3.37:g.121351340T>C	ENSP00000320176:p.Tyr360Cys					HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.Y323C	p.Y360C	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	12	1170	-			360					B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.1079A>G	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	T	6.979	0.550737	0.13374	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.20881	2.06;2.04	5.06	3.84	0.44239	.	1.001470	0.08059	U	0.997806	T	0.28034	0.0691	L	0.46157	1.445	0.09310	N	0.999998	D;D	0.58620	0.983;0.983	P;P	0.50231	0.635;0.635	T	0.10753	-1.0616	10	0.45353	T	0.12	-13.2002	8.8997	0.35487	0.0:0.0:0.1874:0.8126	.	323;360	E7EVW7;P14317	.;HCLS1_HUMAN	C	360;323	ENSP00000320176:Y360C;ENSP00000387645:Y323C	ENSP00000320176:Y360C	Y	-	2	0	HCLS1	122834030	1.000000	0.71417	0.826000	0.32828	0.023000	0.10783	4.126000	0.57937	2.131000	0.65755	0.533000	0.62120	TAC		0.592	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		60	168	0	0	0	1	0	60	168				
SH2B1	25970	broad.mit.edu	37	16	28856724	28856724	+	5'Flank	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:28856724T>C	ENST00000322610.8	+	0	0				MIR4721_ENST00000577590.1_RNA|TUFM_ENST00000313511.3_Missense_Mutation_p.I109V			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TTGATGGTGATACCCCGAGCT	0.552																																						ENST00000313511.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(325-327)Atc>Gtc		Tu translation elongation factor, mitochondrial							107.0	100.0	102.0					16																	28856724		2197	4300	6497	SO:0001631	upstream_gene_variant	7284					mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr16:28856724T>C	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28856724T>C	Exception_encountered						p.I109V	NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN			3	463	-			106					A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.325A>G	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	T	31	5.103594	0.94245	.	.	ENSG00000178952	ENST00000313511	T	0.76186	-1.0	5.42	5.42	0.78866	Protein synthesis factor, GTP-binding (3);	0.054739	0.64402	D	0.000001	D	0.86686	0.5992	M	0.79693	2.465	0.80722	D	1	P	0.40302	0.712	D	0.64042	0.921	D	0.87721	0.2573	10	0.66056	D	0.02	-20.3925	14.4426	0.67327	0.0:0.0:0.0:1.0	.	106	P49411	EFTU_HUMAN	V	109	ENSP00000322439:I109V	ENSP00000322439:I109V	I	-	1	0	TUFM	28764225	1.000000	0.71417	0.978000	0.43139	0.992000	0.81027	6.825000	0.75293	2.059000	0.61396	0.459000	0.35465	ATC		0.552	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		53	160	0	0	0	1	0	53	160				
OAZ1	4946	broad.mit.edu	37	19	2273081	2273081	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:2273081G>A	ENST00000602676.2	+	6	740	c.661G>A	c.(661-663)Gag>Aag	p.E221K	OAZ1_ENST00000583542.4_Missense_Mutation_p.E229K|OAZ1_ENST00000322297.4_Missense_Mutation_p.E220K|OAZ1_ENST00000582888.4_Missense_Mutation_p.E219K|OAZ1_ENST00000588673.2_Missense_Mutation_p.E250K			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1	221					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cytosol (GO:0005829)	ornithine decarboxylase inhibitor activity (GO:0008073)			endometrium(1)|lung(2)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	L-Ornithine(DB00129)	GTTCGAGAGAGAGTCTTCGGG	0.632																																						ENST00000583542.3																			0				endometrium(1)|lung(2)	3						c.(685-687)Gag>Aag		ornithine decarboxylase antizyme 1	L-Ornithine(DB00129)						26.0	29.0	28.0					19																	2273081		1896	4102	5998	SO:0001583	missense	4946				polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity	g.chr19:2273081G>A		CCDS58639.1	19p13.3	2008-07-17				ENSG00000104904			8095	protein-coding gene	gene with protein product	"""antizyme 1"""	601579		OAZ		7811704, 8954789	Standard	NM_004152		Approved	AZI, MGC138338	uc002lvk.3	P54368		ENST00000602676.2:c.661G>A	19.37:g.2273081G>A	ENSP00000473381:p.Glu221Lys					OAZ1_ENST00000322297.4_Missense_Mutation_p.E220K|OAZ1_ENST00000582888.3_Missense_Mutation_p.E219K|OAZ1_ENST00000602676.1_Missense_Mutation_p.E221K|OAZ1_ENST00000592727.1_3'UTR	p.E229K			P54368	OAZ1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	764	+		Hepatocellular(1079;0.137)	221					O43382|Q14989|Q92595|Q9UPL9	Missense_Mutation	SNP	ENST00000602676.2	37	c.685G>A	CCDS58639.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628311	0.87560	.	.	ENSG00000104904	ENST00000322297	T	0.11604	2.76	4.38	4.38	0.52667	.	0.205819	0.49916	D	0.000126	T	0.08980	0.0222	N	0.22421	0.69	0.50467	D	0.999873	B	0.27498	0.18	B	0.19391	0.025	T	0.16100	-1.0414	10	0.62326	D	0.03	-7.7785	15.9299	0.79651	0.0:0.0:1.0:0.0	.	221	P54368	OAZ1_HUMAN	K	220	ENSP00000314813:E220K	ENSP00000314813:E220K	E	+	1	0	OAZ1	2224081	1.000000	0.71417	0.972000	0.41901	0.756000	0.42949	9.543000	0.98089	1.985000	0.57927	0.491000	0.48974	GAG		0.632	OAZ1-002	NOVEL	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467467.2	NM_004152		5	19	0	0	0	1	0	5	19				
AKAP8	10270	broad.mit.edu	37	19	15472959	15472959	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:15472959T>C	ENST00000269701.2	-	10	1324	c.1264A>G	c.(1264-1266)Agc>Ggc	p.S422G		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	422					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						AGCTTGGTGCTTATGAACCGC	0.537																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(1264-1266)Agc>Ggc		A kinase (PRKA) anchor protein 8							92.0	88.0	89.0					19																	15472959		2203	4300	6503	SO:0001583	missense	10270				signal transduction	nuclear matrix		g.chr19:15472959T>C	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1264A>G	19.37:g.15472959T>C	ENSP00000269701:p.Ser422Gly						p.S422G	NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN			10	1324	-			422						Missense_Mutation	SNP	ENST00000269701.2	37	c.1264A>G	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	T	2.286	-0.363467	0.05103	.	.	ENSG00000105127	ENST00000269701;ENST00000537303	T	0.43688	0.94	5.52	0.55	0.17219	.	0.180397	0.40302	N	0.001131	T	0.12944	0.0314	N	0.02011	-0.69	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.14023	0.01;0.01	T	0.36187	-0.9758	10	0.02654	T	1	-17.4317	9.2313	0.37439	0.0:0.6582:0.0:0.3418	.	422;422	Q8NE02;O43823	.;AKAP8_HUMAN	G	422;171	ENSP00000269701:S422G	ENSP00000269701:S422G	S	-	1	0	AKAP8	15333959	0.218000	0.23608	0.192000	0.23308	0.914000	0.54420	1.084000	0.30828	0.070000	0.16634	0.379000	0.24179	AGC		0.537	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		3	50	0	0	0	1	0	3	50				
KIAA1161	57462	broad.mit.edu	37	9	34371428	34371428	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:34371428A>G	ENST00000297625.7	-	2	1637	c.1412T>C	c.(1411-1413)gTa>gCa	p.V471A		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	505					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CTGGTAGCCTACGCGCACCTC	0.662																																						ENST00000297625.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(1411-1413)gTa>gCa		KIAA1161							24.0	26.0	25.0					9																	34371428		2201	4292	6493	SO:0001583	missense	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34371428A>G	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.1412T>C	9.37:g.34371428A>G	ENSP00000297625:p.Val471Ala						p.V471A	NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	2	1637	-			505					Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	ENST00000297625.7	37	c.1412T>C		.	.	.	.	.	.	.	.	.	.	A	9.987	1.229687	0.22542	.	.	ENSG00000164976	ENST00000297625	T	0.50277	0.75	5.27	5.27	0.74061	Glycoside hydrolase, superfamily (1);	0.131736	0.50627	D	0.000105	T	0.23249	0.0562	N	0.04162	-0.26	0.37781	D	0.927019	P	0.36483	0.555	B	0.35931	0.214	T	0.25847	-1.0120	10	0.05833	T	0.94	-24.5612	14.0359	0.64644	1.0:0.0:0.0:0.0	.	505	Q6NSJ0	K1161_HUMAN	A	471	ENSP00000297625:V471A	ENSP00000297625:V471A	V	-	2	0	KIAA1161	34361428	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.865000	0.62998	1.998000	0.58463	0.379000	0.24179	GTA		0.662	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		16	41	0	0	0	1	0	16	41				
ABHD1	84696	broad.mit.edu	37	2	27351946	27351946	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:27351946G>T	ENST00000316470.4	+	3	523	c.409G>T	c.(409-411)Gat>Tat	p.D137Y		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	137			D -> E (in dbSNP:rs6715286). {ECO:0000269|PubMed:12735795, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTAGCCAGGATACATACGT	0.557																																						ENST00000316470.4																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(409-411)Gat>Tat		abhydrolase domain containing 1							78.0	72.0	74.0					2																	27351946		2203	4300	6503	SO:0001583	missense	84696					integral to membrane	carboxylesterase activity	g.chr2:27351946G>T	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"""Abhydrolase domain containing"""	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.409G>T	2.37:g.27351946G>T	ENSP00000326491:p.Asp137Tyr						p.D137Y	NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN			3	523	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		137		D -> E (in dbSNP:rs6715286).			B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Missense_Mutation	SNP	ENST00000316470.4	37	c.409G>T	CCDS1736.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272591	0.59649	.	.	ENSG00000143994	ENST00000316470;ENST00000416071	T;T	0.09630	2.96;2.96	4.82	3.94	0.45596	.	0.231217	0.36815	N	0.002398	T	0.17577	0.0422	M	0.71036	2.16	0.21967	N	0.999443	B	0.21452	0.056	B	0.36134	0.218	T	0.17289	-1.0374	10	0.87932	D	0	-15.4272	8.6771	0.34185	0.1024:0.0:0.8976:0.0	.	137	Q96SE0	ABHD1_HUMAN	Y	137;74	ENSP00000326491:D137Y;ENSP00000397522:D74Y	ENSP00000326491:D137Y	D	+	1	0	ABHD1	27205450	0.994000	0.37717	0.904000	0.35570	0.871000	0.50021	1.507000	0.35758	1.250000	0.43966	0.561000	0.74099	GAT		0.557	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604		31	94	1	0	3.69857e-22	1	3.90823e-22	31	94				
MAPKBP1	23005	broad.mit.edu	37	15	42107539	42107539	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:42107539G>A	ENST00000456763.2	+	12	1467	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R418H|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R418H|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R301H	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	424										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AACACCATCCGCCTGTGGAAC	0.612																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1252-1254)cGc>cAc		mitogen-activated protein kinase binding protein 1							85.0	80.0	82.0					15																	42107539		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42107539G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1271G>A	15.37:g.42107539G>A	ENSP00000393099:p.Arg424His					MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R418H|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R424H|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R301H	p.R418H	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	11	1539	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	424					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1253G>A	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	35	5.516598	0.96402	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000456763;ENST00000514566	T;T;T;T	0.67523	-0.27;1.45;-0.27;-0.27	5.42	5.42	0.78866	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85035	0.5605	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.87125	0.2193	10	0.87932	D	0	-17.7687	19.565	0.95389	0.0:0.0:1.0:0.0	.	418;424;418	O60336-2;O60336;O60336-6	.;MABP1_HUMAN;.	H	418;301;424;418	ENSP00000397570:R418H;ENSP00000221214:R301H;ENSP00000393099:R424H;ENSP00000426154:R418H	ENSP00000221214:R301H	R	+	2	0	MAPKBP1	39894831	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.686000	0.98664	2.694000	0.91930	0.556000	0.70494	CGC		0.612	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		5	83	0	0	0	1	0	5	83				
SBF1	6305	broad.mit.edu	37	22	50903743	50903743	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:50903743G>A	ENST00000390679.3	-	11	1288	c.1104C>T	c.(1102-1104)cgC>cgT	p.R368R	SBF1_ENST00000348911.6_Silent_p.R369R|SBF1_ENST00000380817.3_Silent_p.R368R			O95248	MTMR5_HUMAN	SET binding factor 1	368	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGAAGACCGCGCGCAGCTCCT	0.647																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1102-1104)cgC>cgT		SET binding factor 1							14.0	22.0	19.0					22																	50903743		2101	4219	6320	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50903743G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1104C>T	22.37:g.50903743G>A						SBF1_ENST00000348911.6_Silent_p.R369R|SBF1_ENST00000390679.3_Silent_p.R368R	p.R368R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	11	1287	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	368			dDENN.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.1104C>T																																																																																					0.647	SBF1-201	KNOWN	basic	protein_coding	protein_coding				5	11	0	0	0	1	0	5	11				
NNT	23530	broad.mit.edu	37	5	43650623	43650623	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:43650623T>C	ENST00000264663.5	+	12	1872	c.1651T>C	c.(1651-1653)Tat>Cat	p.Y551H	NNT_ENST00000512996.2_Missense_Mutation_p.Y420H|NNT_ENST00000344920.4_Missense_Mutation_p.Y551H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	551					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					AGGACATTTGTATCCTTCCAC	0.433																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1651-1653)Tat>Cat		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						244.0	215.0	225.0					5																	43650623		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43650623T>C	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1651T>C	5.37:g.43650623T>C	ENSP00000264663:p.Tyr551His					NNT_ENST00000344920.4_Missense_Mutation_p.Y551H|NNT_ENST00000512996.2_Missense_Mutation_p.Y420H	p.Y551H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			12	1872	+	Lung NSC(6;2.58e-06)		551					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.1651T>C	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	T	13.85	2.360053	0.41801	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.95482	-3.72;-3.72;-3.6	5.43	5.43	0.79202	NAD(P) transhydrogenase, alpha subunit, C-terminal (1);	0.417326	0.26571	N	0.023627	D	0.89691	0.6788	N	0.25201	0.72	0.22811	N	0.998702	B	0.12630	0.006	B	0.17098	0.017	T	0.79787	-0.1656	10	0.46703	T	0.11	-7.3568	6.1977	0.20559	0.0:0.2073:0.0:0.7927	.	551	Q13423	NNTM_HUMAN	H	66;551;551;420	ENSP00000264663:Y551H;ENSP00000343873:Y551H;ENSP00000426343:Y420H	ENSP00000264663:Y551H	Y	+	1	0	NNT	43686380	0.000000	0.05858	0.982000	0.44146	0.955000	0.61496	-0.282000	0.08445	2.049000	0.60858	0.528000	0.53228	TAT		0.433	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		8	77	0	0	0	1	0	8	77				
ASAP2	8853	broad.mit.edu	37	2	9528450	9528450	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:9528450C>T	ENST00000281419.3	+	22	2498	c.2158C>T	c.(2158-2160)Ccc>Tcc	p.P720S	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Missense_Mutation_p.P720S	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	720					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GGAAGACCGGCCCATCAGCTT	0.547																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(2158-2160)Ccc>Tcc		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							57.0	62.0	61.0					2																	9528450		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9528450C>T	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2158C>T	2.37:g.9528450C>T	ENSP00000281419:p.Pro720Ser					ASAP2_ENST00000315273.4_Missense_Mutation_p.P720S|ASAP2_ENST00000491413.1_3'UTR	p.P720S	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			22	2498	+			720					D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.2158C>T	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877128	0.91664	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.59638	0.28;0.25	5.41	5.41	0.78517	.	0.318397	0.39020	N	0.001495	T	0.77226	0.4099	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.78448	-0.2200	10	0.56958	D	0.05	.	19.1952	0.93684	0.0:1.0:0.0:0.0	.	720;720	O43150-2;O43150	.;ASAP2_HUMAN	S	720	ENSP00000281419:P720S;ENSP00000316404:P720S	ENSP00000281419:P720S	P	+	1	0	ASAP2	9445901	1.000000	0.71417	0.998000	0.56505	0.871000	0.50021	7.487000	0.81328	2.538000	0.85594	0.561000	0.74099	CCC		0.547	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		27	73	0	0	0	1	0	27	73				
ITGA11	22801	broad.mit.edu	37	15	68605148	68605148	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:68605148T>C	ENST00000315757.7	-	24	3022	c.2936A>G	c.(2935-2937)tAc>tGc	p.Y979C	ITGA11_ENST00000423218.2_Missense_Mutation_p.Y979C	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	979					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GATACCATCGTATCTCTCCAG	0.637																																						ENST00000423218.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(2935-2937)tAc>tGc		integrin, alpha 11	Tirofiban(DB00775)						76.0	77.0	77.0					15																	68605148		2064	4220	6284	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68605148T>C	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2936A>G	15.37:g.68605148T>C	ENSP00000327290:p.Tyr979Cys					ITGA11_ENST00000315757.7_Missense_Mutation_p.Y979C	p.Y979C			Q9UKX5	ITA11_HUMAN			24	3031	-			979					J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.2936A>G	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	T	10.75	1.436918	0.25900	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.44881	0.91;0.91	4.97	4.97	0.65823	Integrin alpha-2 (1);	0.191394	0.47093	D	0.000257	T	0.55337	0.1914	L	0.51422	1.61	0.09310	N	0.999995	D;D	0.64830	0.994;0.994	D;D	0.66351	0.932;0.943	T	0.49184	-0.8966	10	0.39692	T	0.17	.	13.5001	0.61449	0.0:0.0:0.0:1.0	.	979;979	A8K8T0;Q9UKX5	.;ITA11_HUMAN	C	979;979;614	ENSP00000327290:Y979C;ENSP00000403392:Y979C	ENSP00000327290:Y979C	Y	-	2	0	ITGA11	66392202	0.717000	0.27966	0.013000	0.15412	0.262000	0.26303	2.492000	0.45311	1.872000	0.54250	0.459000	0.35465	TAC		0.637	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		3	43	0	0	0	1	0	3	43				
RAD50	10111	broad.mit.edu	37	5	131931411	131931411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:131931411C>T	ENST00000265335.6	+	13	2503	c.2116C>T	c.(2116-2118)Cga>Tga	p.R706*	RAD50_ENST00000378823.3_Nonsense_Mutation_p.R567*			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	706	Zinc-hook. {ECO:0000255|PROSITE- ProRule:PRU00471}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.R706G(1)|p.R567G(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCTAAACTGCGACTTGCTCC	0.438								Homologous recombination																														ENST00000378823.3																			2	Substitution - Missense(2)	p.R706G(1)|p.R567G(1)	lung(2)	breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1699-1701)Cga>Tga	Homologous recombination	RAD50 homolog (S. cerevisiae)							85.0	79.0	81.0					5																	131931411		2203	4300	6503	SO:0001587	stop_gained	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131931411C>T	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.2116C>T	5.37:g.131931411C>T	ENSP00000265335:p.Arg706*					RAD50_ENST00000265335.6_Nonsense_Mutation_p.R706*	p.R567*	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	2517	+		all_cancers(142;0.0368)|Breast(839;0.198)	706					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Nonsense_Mutation	SNP	ENST00000265335.6	37	c.1699C>T	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	C	38	6.900817	0.97920	.	.	ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394	.	.	.	6.07	2.06	0.26882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9932	16.1033	0.81203	0.5129:0.4871:0.0:0.0	.	.	.	.	X	567;706;645	.	ENSP00000265335:R706X	R	+	1	2	RAD50	131959310	1.000000	0.71417	0.997000	0.53966	0.937000	0.57800	3.325000	0.52030	0.069000	0.16605	0.655000	0.94253	CGA		0.438	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		30	118	0	0	0	1	0	30	118				
PLXNA1	5361	broad.mit.edu	37	3	126748859	126748859	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:126748859C>T	ENST00000393409.2	+	27	5013	c.5013C>T	c.(5011-5013)ggC>ggT	p.G1671G	PLXNA1_ENST00000251772.4_Silent_p.G1648G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1671					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GTGACCGCGGCAGCAAGATGG	0.657																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(5011-5013)ggC>ggT		plexin A1							100.0	98.0	99.0					3																	126748859		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126748859C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5013C>T	3.37:g.126748859C>T						PLXNA1_ENST00000251772.4_Silent_p.G1648G	p.G1671G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	27	5013	+			1671						Silent	SNP	ENST00000393409.2	37	c.5013C>T	CCDS33847.2																																																																																				0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		5	154	0	0	0	1	0	5	154				
NCOA7	135112	broad.mit.edu	37	6	126199426	126199426	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:126199426C>T	ENST00000368357.3	+	6	721	c.369C>T	c.(367-369)acC>acT	p.T123T	RN7SKP56_ENST00000410513.1_RNA|NCOA7_ENST00000229634.9_Silent_p.T19T|NCOA7_ENST00000392477.2_Silent_p.T123T	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	123					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		ACCAGGACACCCTAAACTCCA	0.318																																						ENST00000368357.3																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39						c.(367-369)acC>acT		nuclear receptor coactivator 7							93.0	85.0	88.0					6																	126199426		2203	4300	6503	SO:0001819	synonymous_variant	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126199426C>T	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.369C>T	6.37:g.126199426C>T						NCOA7_ENST00000229634.9_Silent_p.T19T|NCOA7_ENST00000392477.2_Silent_p.T123T	p.T123T	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	6	721	+			123					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Silent	SNP	ENST00000368357.3	37	c.369C>T	CCDS5132.1																																																																																				0.318	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		11	29	0	0	0	1	0	11	29				
TFRC	7037	broad.mit.edu	37	3	195798888	195798888	+	Silent	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:195798888A>T	ENST00000360110.4	-	5	739	c.570T>A	c.(568-570)atT>atA	p.I190I	TFRC_ENST00000535031.1_5'UTR|RNU7-18P_ENST00000516365.1_RNA|TFRC_ENST00000392396.3_Silent_p.I190I|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000420415.1_Silent_p.I109I	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	190					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	CTTTGACCTGAATCTTAACAA	0.323			T	BCL6	NHL																																	ENST00000360110.4				Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(568-570)atT>atA		transferrin receptor							63.0	63.0	63.0					3																	195798888		2203	4300	6503	SO:0001819	synonymous_variant	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195798888A>T	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.570T>A	3.37:g.195798888A>T						TFRC_ENST00000420415.1_Silent_p.I109I|TFRC_ENST00000392396.3_Silent_p.I190I|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR	p.I190I	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	5	739	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		190					D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Silent	SNP	ENST00000360110.4	37	c.570T>A	CCDS3312.1																																																																																				0.323	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			5	62	0	0	0	1	0	5	62				
SLC5A2	6524	broad.mit.edu	37	16	31497177	31497177	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:31497177T>C	ENST00000330498.3	+	4	450	c.431T>C	c.(430-432)gTg>gCg	p.V144A	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	144					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	TACCTGTCTGTGCTCTCCCTT	0.597																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(430-432)gTg>gCg		solute carrier family 5 (sodium/glucose cotransporter), member 2							72.0	66.0	68.0					16																	31497177		2197	4300	6497	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31497177T>C		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.431T>C	16.37:g.31497177T>C	ENSP00000327943:p.Val144Ala						p.V144A	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			4	450	+			144					A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.431T>C	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.545443	0.45280	.	.	ENSG00000140675	ENST00000330498;ENST00000419665	D;D	0.86366	-2.11;-2.11	4.75	4.75	0.60458	.	0.160521	0.41194	D	0.000927	D	0.82715	0.5097	M	0.63169	1.94	0.43137	D	0.994883	B	0.12630	0.006	B	0.12156	0.007	T	0.77900	-0.2415	10	0.33940	T	0.23	.	6.9764	0.24677	0.0:0.1001:0.0:0.8999	.	144	P31639	SC5A2_HUMAN	A	144	ENSP00000327943:V144A;ENSP00000410601:V144A	ENSP00000327943:V144A	V	+	2	0	SLC5A2	31404678	0.917000	0.31117	0.996000	0.52242	0.748000	0.42578	3.954000	0.56708	2.010000	0.58986	0.260000	0.18958	GTG		0.597	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			16	57	0	0	0	1	0	16	57				
FYN	2534	broad.mit.edu	37	6	112024217	112024217	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:112024217G>A	ENST00000354650.3	-	8	1174	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	FYN_ENST00000368682.3_Missense_Mutation_p.R190C|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000229470.5_Missense_Mutation_p.R141C|FYN_ENST00000229471.4_Missense_Mutation_p.R190C|FYN_ENST00000368678.4_Missense_Mutation_p.R190C|FYN_ENST00000368667.2_Missense_Mutation_p.R190C|FYN_ENST00000356013.2_Missense_Mutation_p.R190C|FYN_ENST00000538466.1_Missense_Mutation_p.R190C	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	190	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TCCCAATCACGGATAGAAAGT	0.413																																						ENST00000354650.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(568-570)Cgt>Tgt		FYN oncogene related to SRC, FGR, YES	Dasatinib(DB01254)						117.0	112.0	114.0					6																	112024217		2203	4300	6503	SO:0001583	missense	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:112024217G>A	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.568C>T	6.37:g.112024217G>A	ENSP00000346671:p.Arg190Cys					FYN_ENST00000476769.2_5'UTR|FYN_ENST00000538466.1_Missense_Mutation_p.R190C|FYN_ENST00000229470.5_Missense_Mutation_p.R141C|FYN_ENST00000356013.2_Missense_Mutation_p.R190C|FYN_ENST00000368682.3_Missense_Mutation_p.R190C|FYN_ENST00000368678.4_Missense_Mutation_p.R190C|FYN_ENST00000229471.4_Missense_Mutation_p.R190C|FYN_ENST00000368667.2_Missense_Mutation_p.R190C	p.R190C	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	8	1174	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	190			SH2.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	c.568C>T	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	G	34	5.357233	0.95854	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792;ENST00000462856	D;D;D;D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	6.03	6.03	0.97812	SH2 motif (5);	0.063219	0.64402	D	0.000002	D	0.94398	0.8198	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.79108	0.959;0.858;0.992	D	0.93975	0.7253	10	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	190;190;190	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	C	190;190;190;190;190;141;190;190;141;190	ENSP00000357671:R190C;ENSP00000346671:R190C;ENSP00000229471:R190C;ENSP00000357656:R190C;ENSP00000357667:R190C;ENSP00000229470:R141C;ENSP00000348295:R190C;ENSP00000440646:R190C;ENSP00000427993:R190C	ENSP00000229470:R141C	R	-	1	0	FYN	112130910	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.854000	0.98071	0.655000	0.94253	CGT		0.413	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			19	64	0	0	0	1	0	19	64				
KIAA1407	57577	broad.mit.edu	37	3	113684127	113684127	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:113684127G>A	ENST00000295878.3	-	17	2832	c.2686C>T	c.(2686-2688)Cga>Tga	p.R896*		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	896										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AGTTGCTGTCGCCTTTCTTCT	0.413																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(2686-2688)Cga>Tga		KIAA1407							138.0	142.0	141.0					3																	113684127		2203	4300	6503	SO:0001587	stop_gained	57577							g.chr3:113684127G>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2686C>T	3.37:g.113684127G>A	ENSP00000295878:p.Arg896*						p.R896*	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			17	2832	-			896					B4DYL1|Q9P2E0	Nonsense_Mutation	SNP	ENST00000295878.3	37	c.2686C>T	CCDS2977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	5.982051|5.982051	0.97168|0.97168	.|.	.|.	ENSG00000184307|ENSG00000163617	ENST00000496083|ENST00000295878	.|.	.|.	.|.	5.68|5.68	2.52|2.52	0.30459|0.30459	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.30198|.	0.0757|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.14643|.	-1.0465|.	5|.	0.87932|0.02654	D|T	0|1	.|.	10.1765|10.1765	0.42941|0.42941	0.0824:0.0:0.6607:0.2569|0.0824:0.0:0.6607:0.2569	.|.	.|.	.|.	.|.	T|X	66|896	.|.	ENSP00000417579:A66T|ENSP00000295878:R896X	A|R	+|-	1|1	0|2	ZDHHC23|KIAA1407	115166817|115166817	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.363000|0.363000	0.29612|0.29612	1.345000|1.345000	0.33953|0.33953	1.339000|1.339000	0.45563|0.45563	0.650000|0.650000	0.86243|0.86243	GCC|CGA		0.413	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		39	84	0	0	0	1	0	39	84				
PCDHAC1	56135	broad.mit.edu	37	5	140308431	140308431	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140308431C>T	ENST00000253807.2	+	1	1954	c.1954C>T	c.(1954-1956)Ctg>Ttg	p.L652L	PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.L652L|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	652	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGTCACTCTGGGTGTGCT	0.522																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(1954-1956)Ctg>Ttg									104.0	100.0	102.0					5																	140308431		2203	4300	6503	SO:0001819	synonymous_variant	56135							g.chr5:140308431C>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1954C>T	5.37:g.140308431C>T						PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.L652L|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron	p.L652L	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1954	+								Q9Y5F5|Q9Y5I5	Silent	SNP	ENST00000253807.2	37	c.1954C>T	CCDS4241.1																																																																																				0.522	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		33	92	0	0	0	1	0	33	92				
OR6N2	81442	broad.mit.edu	37	1	158747317	158747317	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:158747317A>G	ENST00000339258.1	-	1	108	c.109T>C	c.(109-111)Ttc>Ctc	p.F37L		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CAGATGGTGAACAGGTATGCC	0.483																																						ENST00000339258.1																			0				endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(109-111)Ttc>Ctc		olfactory receptor, family 6, subfamily N, member 2							122.0	115.0	117.0					1																	158747317		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747317A>G	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.109T>C	1.37:g.158747317A>G	ENSP00000344101:p.Phe37Leu						p.F37L	NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN			1	108	-	all_hematologic(112;0.0378)		37					Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.109T>C	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	A	3.443	-0.113568	0.06881	.	.	ENSG00000188340	ENST00000339258	T	0.00414	7.52	5.17	5.17	0.71159	.	0.000000	0.40144	N	0.001170	T	0.00073	0.0002	N	0.20530	0.585	0.34112	D	0.663137	B	0.06786	0.001	B	0.08055	0.003	T	0.28554	-1.0040	10	0.02654	T	1	-23.8484	4.5792	0.12250	0.7419:0.0:0.0878:0.1703	.	37	Q8NGY6	OR6N2_HUMAN	L	37	ENSP00000344101:F37L	ENSP00000344101:F37L	F	-	1	0	OR6N2	157013941	0.000000	0.05858	0.998000	0.56505	0.835000	0.47333	-0.740000	0.04861	2.169000	0.68431	0.528000	0.53228	TTC		0.483	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			40	117	0	0	0	1	0	40	117				
LRRC16B	90668	broad.mit.edu	37	14	24534907	24534907	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:24534907C>T	ENST00000342740.5	+	34	3627	c.3473C>T	c.(3472-3474)gCc>gTc	p.A1158V	LRRC16B_ENST00000334420.7_Intron	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1158						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CACGGTGTTGCCCTTCCCGGG	0.587																																						ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(3472-3474)gCc>gTc		leucine rich repeat containing 16B							120.0	109.0	113.0					14																	24534907		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24534907C>T	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.3473C>T	14.37:g.24534907C>T	ENSP00000340467:p.Ala1158Val					LRRC16B_ENST00000334420.7_Intron	p.A1158V	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	34	3627	+			1158					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.3473C>T	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000886	0.74818	.	.	ENSG00000186648	ENST00000342740	T	0.15487	2.42	5.4	5.4	0.78164	.	0.144833	0.32273	N	0.006328	T	0.21761	0.0524	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.01767	-1.1278	10	0.02654	T	1	-16.747	14.6697	0.68934	0.0:1.0:0.0:0.0	.	1158	Q8ND23	LR16B_HUMAN	V	1158	ENSP00000340467:A1158V	ENSP00000340467:A1158V	A	+	2	0	LRRC16B	23604747	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	4.011000	0.57124	2.522000	0.85027	0.655000	0.94253	GCC		0.587	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		41	124	0	0	0	1	0	41	124				
CYP7A1	1581	broad.mit.edu	37	8	59410844	59410844	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:59410844A>G	ENST00000301645.3	-	2	402	c.265T>C	c.(265-267)Ttg>Ctg	p.L89L		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	89					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CCGTGGCACAACACCTTATGG	0.358									Neonatal Giant Cell Hepatitis																													ENST00000301645.3																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(265-267)Ttg>Ctg		cytochrome P450, family 7, subfamily A, polypeptide 1							118.0	122.0	120.0					8																	59410844		2203	4300	6503	SO:0001819	synonymous_variant	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59410844A>G	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.265T>C	8.37:g.59410844A>G							p.L89L	NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN			2	402	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	89					P78454|Q3MIL8|Q7KZ19	Silent	SNP	ENST00000301645.3	37	c.265T>C	CCDS6171.1																																																																																				0.358	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		15	190	0	0	0	1	0	15	190				
FILIP1	27145	broad.mit.edu	37	6	76023544	76023544	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:76023544T>A	ENST00000237172.7	-	5	2334	c.2004A>T	c.(2002-2004)agA>agT	p.R668S	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.R569S|FILIP1_ENST00000393004.2_Missense_Mutation_p.R668S	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	668										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCTGCTCAGTTCTAAATTTCT	0.423																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2002-2004)agA>agT		filamin A interacting protein 1							239.0	242.0	241.0					6																	76023544		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023544T>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2004A>T	6.37:g.76023544T>A	ENSP00000237172:p.Arg668Ser					FILIP1_ENST00000370020.1_Missense_Mutation_p.R569S|FILIP1_ENST00000237172.7_Missense_Mutation_p.R668S|FILIP1_ENST00000498523.1_5'UTR	p.R668S			Q7Z7B0	FLIP1_HUMAN			5	2225	-			668					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2004A>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	T	5.562	0.288460	0.10513	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.17054	2.3;2.3;2.31	5.8	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.03915	0.0110	L	0.34521	1.04	0.51012	D	0.999905	B;B;B	0.24258	0.1;0.004;0.006	B;B;B	0.24541	0.054;0.007;0.009	T	0.22173	-1.0224	10	0.10377	T	0.69	-24.2019	7.7986	0.29162	0.0:0.0763:0.1403:0.7834	.	668;668;668	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	S	668;668;569	ENSP00000376728:R668S;ENSP00000237172:R668S;ENSP00000359037:R569S	ENSP00000237172:R668S	R	-	3	2	FILIP1	76080264	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.020000	0.30027	0.999000	0.39023	0.460000	0.39030	AGA		0.423	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		6	320	0	0	0	1	0	6	320				
FOCAD	54914	broad.mit.edu	37	9	20781876	20781876	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:20781876T>C	ENST00000380249.1	+	12	1509	c.1145T>C	c.(1144-1146)cTa>cCa	p.L382P	FOCAD_ENST00000338382.6_Missense_Mutation_p.L382P	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	382						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											CAGTTGGCTCTAAACCTTTTG	0.418																																						ENST00000380249.1																			0											c.(1144-1146)cTa>cCa		focadhesin							136.0	119.0	125.0					9																	20781876		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20781876T>C	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.1145T>C	9.37:g.20781876T>C	ENSP00000369599:p.Leu382Pro					FOCAD_ENST00000338382.6_Missense_Mutation_p.L382P	p.L382P	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			12	1509	+			382					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.1145T>C	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.146922	0.37923	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.06933	3.24;3.24	5.88	5.88	0.94601	.	0.685439	0.14067	N	0.343625	T	0.08626	0.0214	N	0.24115	0.695	0.49130	D	0.999758	P	0.44195	0.828	B	0.44085	0.44	T	0.28808	-1.0032	10	0.44086	T	0.13	-4.1319	10.8509	0.46769	0.0:0.073:0.0:0.927	.	382	Q5VW36	K1797_HUMAN	P	382	ENSP00000369599:L382P;ENSP00000344307:L382P	ENSP00000344307:L382P	L	+	2	0	KIAA1797	20771876	0.485000	0.25972	0.992000	0.48379	0.993000	0.82548	3.344000	0.52174	2.239000	0.73571	0.533000	0.62120	CTA		0.418	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		27	59	0	0	0	1	0	27	59				
FAM83E	54854	broad.mit.edu	37	19	49106822	49106822	+	Missense_Mutation	SNP	G	G	A	rs376286714	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:49106822G>A	ENST00000263266.3	-	4	1294	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	369										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGGCTgggccgggccgggggg	0.697																																						ENST00000263266.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10						c.(1105-1107)Cgg>Tgg		family with sequence similarity 83, member E							8.0	9.0	9.0					19																	49106822		1721	3839	5560	SO:0001583	missense	54854							g.chr19:49106822G>A	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.1105C>T	19.37:g.49106822G>A	ENSP00000263266:p.Arg369Trp						p.R369W	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	1294	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	369					Q9NXK1	Missense_Mutation	SNP	ENST00000263266.3	37	c.1105C>T	CCDS42587.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668841	0.47677	.	.	ENSG00000105523	ENST00000263266	T	0.12255	2.7	4.45	3.37	0.38596	.	0.305555	0.26183	N	0.025841	T	0.20941	0.0504	L	0.32530	0.975	0.30160	N	0.802257	D	0.76494	0.999	P	0.61722	0.893	T	0.02683	-1.1124	10	0.87932	D	0	-25.0827	9.8153	0.40849	0.0:0.0:0.6283:0.3717	.	369	Q2M2I3	FA83E_HUMAN	W	369	ENSP00000263266:R369W	ENSP00000263266:R369W	R	-	1	2	FAM83E	53798634	0.989000	0.36119	0.958000	0.39756	0.363000	0.29612	0.236000	0.17967	0.963000	0.38082	0.549000	0.68633	CGG		0.697	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		3	21	0	0	0	1	0	3	21				
TRPA1	8989	broad.mit.edu	37	8	72977772	72977772	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:72977772T>C	ENST00000262209.4	-	4	673	c.466A>G	c.(466-468)Att>Gtt	p.I156V		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	156					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTAACATCAATAGTTCTATGC	0.348																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(466-468)Att>Gtt		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						101.0	89.0	93.0					8																	72977772		2201	4299	6500	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72977772T>C	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.466A>G	8.37:g.72977772T>C	ENSP00000262209:p.Ile156Val						p.I156V	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		4	673	-			156					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.466A>G	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	T	7.686	0.690015	0.15039	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.63255	-0.03;2.45	5.39	5.39	0.77823	Ankyrin repeat-containing domain (4);	0.091563	0.85682	D	0.000000	T	0.44265	0.1285	N	0.08118	0	0.33768	D	0.622762	B	0.15473	0.013	B	0.11329	0.006	T	0.53165	-0.8477	10	0.42905	T	0.14	-9.4857	15.7063	0.77583	0.0:0.0:0.0:1.0	.	156	O75762	TRPA1_HUMAN	V	8;156	ENSP00000428151:I8V;ENSP00000262209:I156V	ENSP00000262209:I156V	I	-	1	0	TRPA1	73140326	1.000000	0.71417	0.010000	0.14722	0.023000	0.10783	6.709000	0.74665	2.171000	0.68590	0.528000	0.53228	ATT		0.348	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		14	48	0	0	0	1	0	14	48				
OLFML3	56944	broad.mit.edu	37	1	114523793	114523793	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:114523793T>C	ENST00000320334.4	+	3	697	c.623T>C	c.(622-624)gTa>gCa	p.V208A	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.V188A|OLFML3_ENST00000369551.1_Missense_Mutation_p.V188A	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	208	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCCCTGGGTAGGCACAGGG	0.567																																						ENST00000369551.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(562-564)gTa>gCa		olfactomedin-like 3							39.0	42.0	41.0					1																	114523793		2203	4300	6503	SO:0001583	missense	56944				multicellular organismal development	extracellular region		g.chr1:114523793T>C	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.623T>C	1.37:g.114523793T>C	ENSP00000322273:p.Val208Ala					OLFML3_ENST00000320334.4_Missense_Mutation_p.V208A|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.V188A	p.V188A			Q9NRN5	OLFL3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	851	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	208			Olfactomedin-like.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP	ENST00000320334.4	37	c.563T>C	CCDS870.1	.	.	.	.	.	.	.	.	.	.	T	7.931	0.740656	0.15642	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.88046	-2.33;-2.33;-2.33	5.92	3.48	0.39840	Olfactomedin-like (3);	0.288356	0.37761	N	0.001955	T	0.49949	0.1587	N	0.11560	0.145	0.24112	N	0.995838	B;B	0.18741	0.03;0.001	B;B	0.13407	0.009;0.002	T	0.42999	-0.9418	10	0.09084	T	0.74	.	8.1789	0.31298	0.0:0.0702:0.1347:0.7951	.	188;208	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	A	188;208;188	ENSP00000358564:V188A;ENSP00000322273:V208A;ENSP00000376977:V188A	ENSP00000322273:V208A	V	+	2	0	OLFML3	114325316	0.725000	0.28048	0.947000	0.38551	0.998000	0.95712	0.953000	0.29162	1.062000	0.40625	0.533000	0.62120	GTA		0.567	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		19	62	0	0	0	1	0	19	62				
ABL1	25	broad.mit.edu	37	9	133748417	133748417	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:133748417A>G	ENST00000318560.5	+	6	1459	c.1078A>G	c.(1078-1080)Atc>Gtc	p.I360V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	360	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GAAAAACTTCATCCACAGGTA	0.607			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1078-1080)Atc>Gtc		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						42.0	34.0	37.0					9																	133748417		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133748417A>G	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1078A>G	9.37:g.133748417A>G	ENSP00000323315:p.Ile360Val						p.I360V	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	6	1459	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	360			Protein kinase.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.1078A>G	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	A	32	5.146449	0.94603	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.81739	-1.53;-1.53	5.87	5.87	0.94306	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	N	0.05158	-0.105	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.85135	0.0977	10	0.87932	D	0	.	15.7569	0.78037	1.0:0.0:0.0:0.0	.	360;397	P00519;Q59FK4	ABL1_HUMAN;.	V	175;379;360	ENSP00000361423:I379V;ENSP00000323315:I360V	ENSP00000323315:I360V	I	+	1	0	ABL1	132738238	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	ATC		0.607	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		12	32	0	0	0	1	0	12	32				
FBN2	2201	broad.mit.edu	37	5	127623000	127623000	+	Splice_Site	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:127623000C>T	ENST00000508053.1	-	60	7854	c.6880G>A	c.(6880-6882)Gat>Aat	p.D2294N	FBN2_ENST00000262464.4_Splice_Site_p.D2294N			P35556	FBN2_HUMAN	fibrillin 2	2294	EGF-like 39; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAGGCCTTACCTTTGCACATC	0.438																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.e60+1		fibrillin 2							167.0	154.0	158.0					5																	127623000		2203	4300	6503	SO:0001630	splice_region_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127623000C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6880+1G>A	5.37:g.127623000C>T						FBN2_ENST00000262464.4_Splice_Site_p.D2294_splice	p.D2294_splice			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	60	7854	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2294			EGF-like 39; calcium-binding.		B4DU01|Q59ES6	Splice_Site	SNP	ENST00000508053.1	37	c.6880_splice	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	36	5.946108	0.97134	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.99051	-5.37;-5.37	5.34	5.34	0.76211	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000003	D	0.99251	0.9739	M	0.77103	2.36	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.99289	1.0898	9	.	.	.	.	19.5946	0.95530	0.0:1.0:0.0:0.0	.	2294	P35556	FBN2_HUMAN	N	2294	ENSP00000262464:D2294N;ENSP00000424571:D2294N	.	D	-	1	0	FBN2	127650899	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.600000	0.82769	2.937000	0.99478	0.650000	0.86243	GAT		0.438	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	Missense_Mutation	4	150	0	0	0	1	0	4	150				
HSPA4L	22824	broad.mit.edu	37	4	128724902	128724902	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:128724902G>A	ENST00000296464.4	+	7	1193	c.782G>A	c.(781-783)cGg>cAg	p.R261Q	HSPA4L_ENST00000505726.1_Missense_Mutation_p.R235Q|HSPA4L_ENST00000439123.2_Missense_Mutation_p.R292Q|HSPA4L_ENST00000508776.1_Missense_Mutation_p.R261Q	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	261					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GAAAACTCTCGGGCCTTGTTG	0.373																																						ENST00000296464.3																			0				central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(781-783)cGg>cAg		heat shock 70kDa protein 4-like							89.0	92.0	91.0					4																	128724902		2203	4300	6503	SO:0001583	missense	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128724902G>A	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.782G>A	4.37:g.128724902G>A	ENSP00000296464:p.Arg261Gln					HSPA4L_ENST00000508776.1_Missense_Mutation_p.R261Q|HSPA4L_ENST00000439123.2_Missense_Mutation_p.R292Q|HSPA4L_ENST00000505726.1_Missense_Mutation_p.R235Q	p.R261Q	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN			7	1193	+			261					A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	c.782G>A	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	G	34	5.410425	0.96072	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.01043	5.41;5.41;5.41;5.41;5.41	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.05777	0.0151	L	0.53780	1.695	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.994;0.994	T	0.27806	-1.0063	10	0.87932	D	0	.	18.4042	0.90528	0.0:0.0:1.0:0.0	.	235;261;261	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	Q	261;292;261;220;235	ENSP00000422482:R261Q;ENSP00000393926:R292Q;ENSP00000296464:R261Q;ENSP00000427305:R220Q;ENSP00000425645:R235Q	ENSP00000296464:R261Q	R	+	2	0	HSPA4L	128944352	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.787000	0.91830	2.589000	0.87451	0.650000	0.86243	CGG		0.373	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		19	55	0	0	0	1	0	19	55				
NPAT	4863	broad.mit.edu	37	11	108031919	108031919	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:108031919G>A	ENST00000278612.8	-	17	3999	c.3894C>T	c.(3892-3894)gaC>gaT	p.D1298D		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1298					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ATGTACTACTGTCTTCACTGA	0.498																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(3892-3894)gaC>gaT		nuclear protein, ataxia-telangiectasia locus							82.0	82.0	82.0					11																	108031919		1888	4107	5995	SO:0001819	synonymous_variant	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108031919G>A	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3894C>T	11.37:g.108031919G>A							p.D1298D	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	17	3999	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1298					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	c.3894C>T	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	G	4.693	0.128951	0.08981	.	.	ENSG00000149308	ENST00000527296	.	.	.	5.01	-3.76	0.04359	.	.	.	.	.	T	0.38558	0.1045	.	.	.	0.50171	D	0.999858	.	.	.	.	.	.	T	0.37220	-0.9715	4	.	.	.	-6.2893	2.093	0.03661	0.2893:0.2634:0.3424:0.1049	.	.	.	.	I	297	.	.	T	-	2	0	NPAT	107537129	0.000000	0.05858	0.131000	0.22000	0.959000	0.62525	-1.308000	0.02730	-0.330000	0.08514	-0.378000	0.06908	ACA		0.498	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		25	99	0	0	0	1	0	25	99				
FLT1	2321	broad.mit.edu	37	13	29041235	29041235	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:29041235C>T	ENST00000282397.4	-	3	444	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	FLT1_ENST00000541932.1_Missense_Mutation_p.E65K|FLT1_ENST00000539099.1_Missense_Mutation_p.E65K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	65	Ig-like C2-type 1.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCACCATTTCAGGCAAAGAC	0.453																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(193-195)Gaa>Aaa		fms-related tyrosine kinase 1	Sunitinib(DB01268)						171.0	160.0	164.0					13																	29041235		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29041235C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.193G>A	13.37:g.29041235C>T	ENSP00000282397:p.Glu65Lys					FLT1_ENST00000539099.1_Missense_Mutation_p.E65K|FLT1_ENST00000541932.1_Missense_Mutation_p.E65K	p.E65K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	3	444	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	65			Ig-like C2-type 1.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.193G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	9.057	0.993517	0.19043	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000450836;ENST00000539099	T;T;T	0.63255	-0.03;-0.03;-0.03	5.81	2.3	0.28687	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.882364	0.10014	N	0.726899	T	0.49287	0.1548	L	0.49126	1.545	0.20196	N	0.999927	B;B;B;B;B	0.12013	0.003;0.002;0.005;0.003;0.001	B;B;B;B;B	0.15484	0.006;0.006;0.013;0.006;0.006	T	0.37572	-0.9700	10	0.08837	T	0.75	.	5.8759	0.18828	0.0:0.6044:0.1587:0.237	.	65;65;65;65;65	P17948-4;P17948-3;B5A924;P17948-2;P17948	.;.;.;.;VGFR1_HUMAN	K	65	ENSP00000282397:E65K;ENSP00000437631:E65K;ENSP00000442630:E65K	ENSP00000282397:E65K	E	-	1	0	FLT1	27939235	0.837000	0.29446	0.147000	0.22382	0.978000	0.69477	1.067000	0.30616	0.616000	0.30141	0.650000	0.86243	GAA		0.453	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			12	139	0	0	0	1	0	12	139				
RSPH9	221421	broad.mit.edu	37	6	43638530	43638530	+	Silent	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:43638530C>A	ENST00000372163.4	+	5	728	c.675C>A	c.(673-675)tcC>tcA	p.S225S	RSPH9_ENST00000372165.4_Missense_Mutation_p.L243M	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	225					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TCTCAGGGTCCTGGAGCATCC	0.647									Kartagener syndrome																													ENST00000372165.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(727-729)Ctg>Atg		radial spoke head 9 homolog (Chlamydomonas)							68.0	59.0	62.0					6																	43638530		2203	4300	6503	SO:0001819	synonymous_variant	221421	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton		g.chr6:43638530C>A	AK055407	CCDS4905.1, CCDS55005.1	6p21.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000172426	ENSG00000172426			21057	protein-coding gene	gene with protein product		612648	"""mitochondrial ribosomal protein S18A-like 1"", ""chromosome 6 open reading frame 206"""	MRPS18AL1, C6orf206		19200523	Standard	NM_152732		Approved	FLJ30845, CILD12	uc003ovx.2	Q9H1X1	OTTHUMG00000014746	ENST00000372163.4:c.675C>A	6.37:g.43638530C>A						RSPH9_ENST00000372163.4_Silent_p.S225S	p.L243M	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN			6	780	+			0					A8K5T4|Q96NH9	Missense_Mutation	SNP	ENST00000372163.4	37	c.727C>A	CCDS4905.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269467	0.59540	.	.	ENSG00000172426	ENST00000372165	.	.	.	5.97	3.2	0.36748	.	0.796409	0.11628	N	0.545116	T	0.38054	0.1026	.	.	.	0.80722	D	1	P	0.50528	0.936	P	0.50405	0.64	T	0.37197	-0.9716	8	0.51188	T	0.08	0.2344	2.6525	0.05003	0.1509:0.5414:0.1462:0.1616	.	243	Q96NH9	.	M	243	.	ENSP00000361238:L243M	L	+	1	2	RSPH9	43746508	0.992000	0.36948	1.000000	0.80357	0.849000	0.48306	0.293000	0.19029	0.399000	0.25367	0.655000	0.94253	CTG		0.647	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040690.1	NM_152732		22	59	1	0	3.10358e-05	1	3.16963e-05	22	59				
ATP6V1A	523	broad.mit.edu	37	3	113507640	113507640	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:113507640A>T	ENST00000273398.3	+	7	905	c.797A>T	c.(796-798)tAt>tTt	p.Y266F	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.Y233F	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	266					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CTATCCAAGTATTCTAACAGT	0.433																																						ENST00000273398.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(796-798)tAt>tTt		ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A							160.0	160.0	160.0					3																	113507640		2203	4300	6503	SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113507640A>T	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.797A>T	3.37:g.113507640A>T	ENSP00000273398:p.Tyr266Phe					ATP6V1A_ENST00000538620.1_Missense_Mutation_p.Y233F	p.Y266F	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN			7	905	+			266					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.797A>T	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.249212	0.39797	.	.	ENSG00000114573	ENST00000273398;ENST00000538620	T;T	0.80653	-1.4;-1.4	5.61	5.61	0.85477	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.73305	0.3570	L	0.35723	1.085	0.80722	D	1	B	0.06786	0.001	B	0.17722	0.019	T	0.67492	-0.5657	10	0.22109	T	0.4	-10.3226	15.8053	0.78501	1.0:0.0:0.0:0.0	.	266	P38606	VATA_HUMAN	F	266;233	ENSP00000273398:Y266F;ENSP00000439874:Y233F	ENSP00000273398:Y266F	Y	+	2	0	ATP6V1A	114990330	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.711000	0.91396	2.126000	0.65437	0.533000	0.62120	TAT		0.433	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		39	89	0	0	0	1	0	39	89				
PHF2	5253	broad.mit.edu	37	9	96339120	96339120	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:96339120A>G	ENST00000359246.4	+	1	432	c.65A>G	c.(64-66)gAg>gGg	p.E22G	PHF2_ENST00000375376.4_Missense_Mutation_p.E22G	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	22				FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637). {ECO:0000305}.	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)		TTCATGATCGAGTGCGACGCC	0.756																																						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.(64-66)gAg>gGg		PHD finger protein 2							22.0	19.0	20.0					9																	96339120		2197	4293	6490	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.chr9:96339120A>G	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.65A>G	9.37:g.96339120A>G	ENSP00000352185:p.Glu22Gly					PHF2_ENST00000375376.4_Missense_Mutation_p.E22G	p.E22G	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	1	432	+		Myeloproliferative disorder(762;0.0255)	22	FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637).				Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.65A>G	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.343109	0.61073	.	.	ENSG00000197724	ENST00000359246;ENST00000375376	T;T	0.12774	2.65;2.65	2.19	2.19	0.27852	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.51477	U	0.000097	T	0.21103	0.0508	N	0.25485	0.75	0.33766	D	0.622436	D	0.89917	1.0	D	0.80764	0.994	T	0.21586	-1.0241	10	0.72032	D	0.01	.	10.0023	0.41935	1.0:0.0:0.0:0.0	.	22	O75151	PHF2_HUMAN	G	22	ENSP00000352185:E22G;ENSP00000364525:E22G	ENSP00000352185:E22G	E	+	2	0	PHF2	95378941	1.000000	0.71417	0.999000	0.59377	0.701000	0.40568	6.643000	0.74334	0.777000	0.33496	0.138000	0.15974	GAG		0.756	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		8	14	0	0	0	1	0	8	14				
ROCK1	6093	broad.mit.edu	37	18	18548731	18548731	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:18548731A>G	ENST00000399799.2	-	25	3944		c.e25+1			NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1						actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AAGCATGTATACCTGTGTTTT	0.358																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.e25+1		Rho-associated, coiled-coil containing protein kinase 1							222.0	220.0	220.0					18																	18548731		2203	4300	6503	SO:0001630	splice_region_variant	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18548731A>G		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3003+1T>C	18.37:g.18548731A>G								NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			25	3944	-	Melanoma(1;0.165)							B0YJ91|Q2KHM4|Q59GZ4	Splice_Site	SNP	ENST00000399799.2	37		CCDS11870.2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.175697	0.78564	.	.	ENSG00000067900	ENST00000399799	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3152	0.66446	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ROCK1	16802729	1.000000	0.71417	0.975000	0.42487	0.983000	0.72400	9.015000	0.93640	1.862000	0.54008	0.533000	0.62120	.		0.358	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406	Intron	11	47	0	0	0	1	0	11	47				
IGLV3-10	28803	broad.mit.edu	37	22	23154644	23154644	+	RNA	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:23154644A>G	ENST00000390315.2	+	0	248									immunoglobulin lambda variable 3-10																		AGGACAGCAAACGACCCTCCG	0.542																																						ENST00000390315.2																			0																																																			28803							g.chr22:23154644A>G	X97464		22q11.2	2012-02-08			ENSG00000211669	ENSG00000211669		"""Immunoglobulins / IGL locus"""	5897	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151237		22.37:g.23154644A>G														0	248	+									RNA	SNP	ENST00000390315.2	37																																																																																						0.542	IGLV3-10-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321842.1	NG_000002		5	89	0	0	0	1	0	5	89				
TM7SF3	51768	broad.mit.edu	37	12	27143527	27143527	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:27143527C>T	ENST00000343028.4	-	6	949	c.724G>A	c.(724-726)Gtt>Att	p.V242I	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	242						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					GAGAAGGAAACACTTGTCTTA	0.408																																						ENST00000343028.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(724-726)Gtt>Att		transmembrane 7 superfamily member 3							119.0	108.0	112.0					12																	27143527		2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27143527C>T	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.724G>A	12.37:g.27143527C>T	ENSP00000342322:p.Val242Ile					TM7SF3_ENST00000542667.1_Intron	p.V242I	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN			6	949	-	Colorectal(261;0.0847)		242					B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.724G>A	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	C	2.426	-0.331954	0.05314	.	.	ENSG00000064115	ENST00000343028;ENST00000543655;ENST00000535819	T;T;T	0.44083	1.51;0.93;0.93	5.14	-0.21	0.13176	.	0.547119	0.19330	N	0.116910	T	0.32971	0.0847	L	0.57536	1.79	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.20739	-1.0266	10	0.35671	T	0.21	-3.5962	6.4451	0.21871	0.112:0.5699:0.0:0.3181	.	242	Q9NS93	TM7S3_HUMAN	I	242;33;33	ENSP00000342322:V242I;ENSP00000441924:V33I;ENSP00000445156:V33I	ENSP00000342322:V242I	V	-	1	0	TM7SF3	27034794	0.099000	0.21834	0.006000	0.13384	0.165000	0.22458	0.832000	0.27490	-0.220000	0.09988	-0.224000	0.12420	GTT		0.408	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		55	95	0	0	0	1	0	55	95				
POM121C	100101267	broad.mit.edu	37	7	75045945	75045945	+	IGR	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:75045945C>A	ENST00000257665.5	-	0	5700				NSUN5P1_ENST00000393633.2_RNA			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C						mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GTGGAGGACCCTGGGCCCTCA	0.582																																						ENST00000393633.2																			0				large_intestine(1)|lung(1)	2																																												SO:0001628	intergenic_variant	155400							g.chr7:75045945C>A		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238		7.37:g.75045945C>A														0	4672	+								O75115|Q9Y2N3|Q9Y4S7	RNA	SNP	ENST00000257665.5	37																																																																																						0.582	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		26	106	1	0	1.2476e-16	1	1.31095e-16	26	106				
ROCK1	6093	broad.mit.edu	37	18	18608856	18608856	+	Silent	SNP	A	A	G	rs370231055		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:18608856A>G	ENST00000399799.2	-	10	2032	c.1092T>C	c.(1090-1092)gaT>gaC	p.D364D		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	364	AGC-kinase C-terminal.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AATTACTAGTATCAATGTCAC	0.338																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(1090-1092)gaT>gaC		Rho-associated, coiled-coil containing protein kinase 1		A		0,4406		0,0,2203	141.0	144.0	143.0		1092	2.0	1.0	18		143	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	ROCK1	NM_005406.2		0,2,6500	GG,GA,AA		0.0233,0.0,0.0154		364/1355	18608856	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18608856A>G		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1092T>C	18.37:g.18608856A>G							p.D364D	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			10	2032	-	Melanoma(1;0.165)		364			AGC-kinase C-terminal.		B0YJ91|Q2KHM4|Q59GZ4	Silent	SNP	ENST00000399799.2	37	c.1092T>C	CCDS11870.2																																																																																				0.338	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		31	100	0	0	0	1	0	31	100				
KANK1	23189	broad.mit.edu	37	9	712027	712027	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:712027T>A	ENST00000382303.1	+	7	1913	c.1261T>A	c.(1261-1263)Tcc>Acc	p.S421T	KANK1_ENST00000382297.2_Missense_Mutation_p.S421T|KANK1_ENST00000382293.3_Missense_Mutation_p.S263T|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	421	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AGGCTCCAGGTCCTGTAAGGA	0.552																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(1261-1263)Tcc>Acc		KN motif and ankyrin repeat domains 1							115.0	94.0	101.0					9																	712027		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:712027T>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1261T>A	9.37:g.712027T>A	ENSP00000371740:p.Ser421Thr					KANK1_ENST00000382293.3_Missense_Mutation_p.S263T|KANK1_ENST00000382297.2_Missense_Mutation_p.S421T|KANK1_ENST00000489369.1_3'UTR	p.S421T	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	1913	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	421					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.1261T>A	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	T	8.948	0.967586	0.18659	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.36699	1.24;1.24;1.29	5.51	-8.17	0.01057	.	1.243550	0.05628	N	0.581132	T	0.23370	0.0565	L	0.36672	1.1	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.25950	-1.0117	10	0.25106	T	0.35	-0.4256	9.7069	0.40220	0.0:0.3058:0.4642:0.23	.	421;421	Q5W0W1;Q14678	.;KANK1_HUMAN	T	421;421;421;263	ENSP00000371740:S421T;ENSP00000371734:S421T;ENSP00000371730:S263T	ENSP00000346479:S421T	S	+	1	0	KANK1	702027	0.000000	0.05858	0.000000	0.03702	0.737000	0.42083	-1.675000	0.01947	-0.939000	0.03709	0.533000	0.62120	TCC		0.552	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		28	79	0	0	0	1	0	28	79				
FNDC1	84624	broad.mit.edu	37	6	159653369	159653369	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:159653369C>T	ENST00000297267.9	+	11	2025	c.1825C>T	c.(1825-1827)Cgc>Tgc	p.R609C	FNDC1_ENST00000340366.6_Missense_Mutation_p.R546C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	609					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CACGCAGCCCCGCCCAGGGGC	0.687																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1825-1827)Cgc>Tgc		fibronectin type III domain containing 1							19.0	23.0	22.0					6																	159653369		1969	4149	6118	SO:0001583	missense	84624					extracellular region		g.chr6:159653369C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1825C>T	6.37:g.159653369C>T	ENSP00000297267:p.Arg609Cys					FNDC1_ENST00000340366.6_Missense_Mutation_p.R546C	p.R609C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2025	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	609					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.1825C>T	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.06|13.06	2.122978|2.122978	0.37436|0.37436	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	T|T;T	0.03607|0.08984	3.87|3.03;3.8	4.76|4.76	1.68|1.68	0.24146|0.24146	.|.	.|1.327860	.|0.05663	.|N	.|0.587273	T|T	0.04815|0.04815	0.0130|0.0130	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|D;D	.|0.76494	.|0.999;0.975	.|P;B	.|0.54924	.|0.764;0.332	T|T	0.35450|0.35450	-0.9788|-0.9788	7|10	0.34782|0.38643	T|T	0.22|0.18	0.8128|0.8128	5.5807|5.5807	0.17248|0.17248	0.0:0.3024:0.5499:0.1477|0.0:0.3024:0.5499:0.1477	.|.	.|546;609	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	L|C	504|609;546	ENSP00000333297:P504L|ENSP00000297267:R609C;ENSP00000342460:R546C	ENSP00000333297:P504L|ENSP00000297267:R609C	P|R	+|+	2|1	0|0	FNDC1|FNDC1	159573359|159573359	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.563000|-0.563000	0.05943|0.05943	0.568000|0.568000	0.29311|0.29311	0.591000|0.591000	0.81541|0.81541	CCG|CGC		0.687	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		13	48	0	0	0	1	0	13	48				
ATXN2L	11273	broad.mit.edu	37	16	28845883	28845883	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:28845883A>G	ENST00000336783.4	+	18	2469	c.2302A>G	c.(2302-2304)Atg>Gtg	p.M768V	ATXN2L_ENST00000570200.1_Missense_Mutation_p.M768V|ATXN2L_ENST00000395547.2_Missense_Mutation_p.M768V|ATXN2L_ENST00000564304.1_Missense_Mutation_p.M774V|ATXN2L_ENST00000382686.4_Missense_Mutation_p.M768V|ATXN2L_ENST00000325215.6_Missense_Mutation_p.M768V|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000340394.8_Missense_Mutation_p.M768V|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	768					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCGCCGATGATGCAGGCCGC	0.667																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2302-2304)Atg>Gtg		ataxin 2-like							56.0	68.0	64.0					16																	28845883		2189	4288	6477	SO:0001583	missense	11273					membrane		g.chr16:28845883A>G		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2302A>G	16.37:g.28845883A>G	ENSP00000338718:p.Met768Val					ATXN2L_ENST00000395547.2_Missense_Mutation_p.M768V|ATXN2L_ENST00000340394.8_Missense_Mutation_p.M768V|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000325215.6_Missense_Mutation_p.M768V|ATXN2L_ENST00000570200.1_Missense_Mutation_p.M768V|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.M774V|ATXN2L_ENST00000382686.4_Missense_Mutation_p.M768V	p.M768V	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			18	2469	+			768					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.2302A>G	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	16.74	3.207161	0.58343	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.56444	0.47;0.52;0.53;0.46;0.46	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.53270	0.1786	L	0.50333	1.59	0.35868	D	0.828013	B;B;B;B;B;B;B	0.32365	0.367;0.252;0.252;0.367;0.367;0.252;0.367	B;B;B;B;B;B;B	0.41135	0.348;0.189;0.189;0.348;0.348;0.189;0.348	T	0.59643	-0.7416	10	0.23891	T	0.37	-12.2891	14.5051	0.67748	1.0:0.0:0.0:0.0	.	768;768;768;768;768;768;768	Q8WWM7-6;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;ATX2L_HUMAN;.;.;.;.	V	768	ENSP00000341459:M768V;ENSP00000378917:M768V;ENSP00000338718:M768V;ENSP00000372133:M768V;ENSP00000315650:M768V	ENSP00000315650:M768V	M	+	1	0	ATXN2L	28753384	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.050000	0.49877	2.063000	0.61619	0.460000	0.39030	ATG		0.667	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		59	179	0	0	0	1	0	59	179				
MFSD11	79157	broad.mit.edu	37	17	74774350	74774350	+	Silent	SNP	G	G	T	rs143254714	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:74774350G>T	ENST00000588460.1	+	13	3308	c.1266G>T	c.(1264-1266)ggG>ggT	p.G422G	MFSD11_ENST00000586622.1_Silent_p.G422G|MFSD11_ENST00000336509.4_Silent_p.G422G|MFSD11_ENST00000593181.1_Silent_p.G370G|MFSD11_ENST00000355954.3_Silent_p.G370G|MFSD11_ENST00000590514.1_Silent_p.G422G|MFSD11_ENST00000590070.1_3'UTR	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	422						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TGATATTTGGGTTTTTTGGAA	0.468													G|||	6	0.00119808	0.0045	0.0	5008	,	,		20553	0.0		0.0	False		,,,				2504	0.0					ENST00000588460.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						c.(1264-1266)ggG>ggT		major facilitator superfamily domain containing 11		G	,,,,,,	18,4388	22.3+/-47.3	0,18,2185	186.0	171.0	176.0		1266,1266,1266,1266,1110,1110,1266	2.9	1.0	17	dbSNP_134	176	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MFSD11	NM_001242532.1,NM_001242533.1,NM_001242534.1,NM_001242535.1,NM_001242536.1,NM_001242537.1,NM_024311.3	,,,,,,	0,18,6485	TT,TG,GG		0.0,0.4085,0.1384	,,,,,,	422/450,422/450,422/450,422/450,370/398,370/398,422/450	74774350	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	79157					integral to membrane		g.chr17:74774350G>T	BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.1266G>T	17.37:g.74774350G>T						MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000586622.1_Silent_p.G422G|MFSD11_ENST00000336509.4_Silent_p.G422G|MFSD11_ENST00000593181.1_Silent_p.G370G|MFSD11_ENST00000355954.3_Silent_p.G370G|MFSD11_ENST00000590514.1_Silent_p.G422G	p.G422G	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN			13	3308	+			422					O43442|Q9NXI5	Silent	SNP	ENST00000588460.1	37	c.1266G>T	CCDS11750.1																																																																																				0.468	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311		4	106	1	0	0.00024832	1	0.000251724	4	106				
ATP6V0A2	23545	broad.mit.edu	37	12	124233282	124233282	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124233282A>G	ENST00000330342.3	+	15	2133	c.1885A>G	c.(1885-1887)Aac>Gac	p.N629D		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	629					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TGAATTTATTAACATGTTTTT	0.398																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1885-1887)Aac>Gac		ATPase, H+ transporting, lysosomal V0 subunit a2							92.0	94.0	94.0					12																	124233282		2203	4300	6503	SO:0001583	missense	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124233282A>G	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.1885A>G	12.37:g.124233282A>G	ENSP00000332247:p.Asn629Asp						p.N629D	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	15	2133	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		629					A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.1885A>G	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.288702	0.59976	.	.	ENSG00000185344	ENST00000330342	D	0.87029	-2.2	5.27	5.27	0.74061	.	0.041135	0.85682	D	0.000000	D	0.85448	0.5699	L	0.60904	1.88	0.80722	D	1	B	0.10296	0.003	B	0.23275	0.045	T	0.81538	-0.0887	10	0.34782	T	0.22	-31.0022	15.4951	0.75643	1.0:0.0:0.0:0.0	.	629	Q9Y487	VPP2_HUMAN	D	629	ENSP00000332247:N629D	ENSP00000332247:N629D	N	+	1	0	ATP6V0A2	122799235	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.287000	0.95975	2.117000	0.64856	0.459000	0.35465	AAC		0.398	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		6	150	0	0	0	1	0	6	150				
PLB1	151056	broad.mit.edu	37	2	28763274	28763274	+	Missense_Mutation	SNP	G	G	A	rs202064271		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:28763274G>A	ENST00000327757.5	+	12	784	c.740G>A	c.(739-741)cGg>cAg	p.R247Q	PLB1_ENST00000422425.2_Missense_Mutation_p.R258Q	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	247	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAGACCACCCGGCTGGCCAAG	0.612																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(772-774)cGg>cAg		phospholipase B1		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	58.0	56.0	56.0		773,740	-10.4	0.0	2		56	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	PLB1	NM_001170585.1,NM_153021.4	43,43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	258/1448,247/1459	28763274	2,13004	2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28763274G>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.740G>A	2.37:g.28763274G>A	ENSP00000330442:p.Arg247Gln					PLB1_ENST00000327757.5_Missense_Mutation_p.R247Q	p.R258Q	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			12	817	+	Acute lymphoblastic leukemia(172;0.155)		247			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.773G>A	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.459|9.459	1.092488|1.092488	0.20471|0.20471	0.0|0.0	2.33E-4|2.33E-4	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000327757;ENST00000422425	.|T;T	.|0.12569	.|2.68;2.67	5.18|5.18	-10.4|-10.4	0.00318|0.00318	.|.	.|2.544460	.|0.01046	.|N	.|0.004394	T|T	0.07683|0.07683	0.0193|0.0193	L|L	0.41573|0.41573	1.285|1.285	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.26258	.|0.145;0.03	.|B;B	.|0.19946	.|0.027;0.006	T|T	0.21348|0.21348	-1.0248|-1.0248	5|10	.|0.12430	.|T	.|0.62	-3.1179|-3.1179	3.413|3.413	0.07365|0.07365	0.2764:0.2805:0.3504:0.0927|0.2764:0.2805:0.3504:0.0927	.|.	.|258;247	.|Q6P1J6-3;Q6P1J6	.|.;PLB1_HUMAN	S|Q	257|247;258	.|ENSP00000330442:R247Q;ENSP00000416440:R258Q	.|ENSP00000330442:R247Q	G|R	+|+	1|2	0|0	PLB1|PLB1	28616778|28616778	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.013000|0.013000	0.08279|0.08279	-0.850000|-0.850000	0.04317|0.04317	-2.512000|-2.512000	0.00503|0.00503	-2.073000|-2.073000	0.00383|0.00383	GGC|CGG		0.612	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			9	39	0	0	0	1	0	9	39				
PLA2G2A	5320	broad.mit.edu	37	1	20305005	20305005	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:20305005G>A	ENST00000375111.3	-	4	324	c.53C>T	c.(52-54)gCc>gTc	p.A18V	PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Missense_Mutation_p.A18V	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	18					defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of epithelial cell proliferation (GO:0050680)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidic acid metabolic process (GO:0046473)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|small molecule metabolic process (GO:0044281)|somatic stem cell maintenance (GO:0035019)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|phospholipid binding (GO:0005543)			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Diclofenac(DB00586)|Ginkgo biloba(DB01381)|Indomethacin(DB00328)|Suramin(DB04786)	ATTCCCATGGGCCTGCAGTAG	0.557																																						ENST00000375111.3																			0				central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9						c.(52-54)gCc>gTc		phospholipase A2, group IIA (platelets, synovial fluid)																																				SO:0001583	missense	5320				defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	g.chr1:20305005G>A	BC005919	CCDS201.1	1p35	2008-09-19			ENSG00000188257	ENSG00000188257	3.1.1.4		9031	protein-coding gene	gene with protein product		172411		PLA2B, PLA2L		8838795	Standard	NM_000300		Approved		uc010odb.2	P14555	OTTHUMG00000002699	ENST00000375111.3:c.53C>T	1.37:g.20305005G>A	ENSP00000364252:p.Ala18Val					PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Missense_Mutation_p.A18V	p.A18V	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	4	324	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	18					A8K5I7|Q6DN24|Q6IBD9|Q9UCD2	Missense_Mutation	SNP	ENST00000375111.3	37	c.53C>T	CCDS201.1	.	.	.	.	.	.	.	.	.	.	G	1.602	-0.526265	0.04141	.	.	ENSG00000188257	ENST00000400520;ENST00000375111	T;T	0.25579	1.79;1.79	4.82	-2.76	0.05896	.	1.173640	0.06366	N	0.712729	T	0.08447	0.0210	N	0.02247	-0.625	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.37911	-0.9685	10	0.02654	T	1	.	9.7051	0.40211	0.6651:0.0:0.3349:0.0	.	18	P14555	PA2GA_HUMAN	V	18	ENSP00000383364:A18V;ENSP00000364252:A18V	ENSP00000364252:A18V	A	-	2	0	PLA2G2A	20177592	0.000000	0.05858	0.000000	0.03702	0.185000	0.23345	-2.265000	0.01172	-0.650000	0.05423	0.462000	0.41574	GCC		0.557	PLA2G2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007675.1	NM_000300		7	52	0	0	0	1	0	7	52				
CBX6	23466	broad.mit.edu	37	22	39262377	39262377	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:39262377C>T	ENST00000407418.3	-	5	1199	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	CBX6_ENST00000216083.6_Missense_Mutation_p.R341H			O95503	CBX6_HUMAN	chromobox homolog 6	359					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CATCTCGGGGCGCCAGTCCCC	0.662																																						ENST00000407418.3																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(1075-1077)cGc>cAc		chromobox homolog 6							39.0	41.0	40.0					22																	39262377		2203	4300	6503	SO:0001583	missense	23466				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex		g.chr22:39262377C>T		CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.1076G>A	22.37:g.39262377C>T	ENSP00000384490:p.Arg359His					CBX6_ENST00000216083.6_Missense_Mutation_p.R341H	p.R359H			O95503	CBX6_HUMAN			5	1199	-	Melanoma(58;0.04)		359					A8KAH0|Q96EM5	Missense_Mutation	SNP	ENST00000407418.3	37	c.1076G>A	CCDS13980.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906937	0.72868	.	.	ENSG00000183741	ENST00000407418;ENST00000216083	.	.	.	4.23	4.23	0.50019	.	0.141266	0.29362	N	0.012370	T	0.41190	0.1148	N	0.19112	0.55	0.48288	D	0.999622	B	0.33238	0.403	B	0.20184	0.028	T	0.47509	-0.9112	9	0.52906	T	0.07	.	16.8013	0.85615	0.0:1.0:0.0:0.0	.	359	O95503	CBX6_HUMAN	H	359;341	.	ENSP00000216083:R341H	R	-	2	0	CBX6	37592323	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.087000	0.57671	2.185000	0.69588	0.407000	0.27541	CGC		0.662	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292		16	53	0	0	0	1	0	16	53				
IKZF2	22807	broad.mit.edu	37	2	213872491	213872491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:213872491G>A	ENST00000434687.1	-	9	1483	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374327.4_Nonsense_Mutation_p.R247*|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.R318*|IKZF2_ENST00000342002.2_Nonsense_Mutation_p.R398*|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.R320*|IKZF2_ENST00000374319.4_Nonsense_Mutation_p.R366*|IKZF2_ENST00000457361.1_Nonsense_Mutation_p.R392*|AC079610.1_ENST00000415387.1_RNA			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	392					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R392*(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TCCTGGGGTCGACTCTTTGGT	0.502																																						ENST00000457361.1																			1	Substitution - Nonsense(1)	p.R392*(1)	large_intestine(1)	NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1174-1176)Cga>Tga		IKAROS family zinc finger 2 (Helios)							111.0	108.0	109.0					2																	213872491		2203	4300	6503	SO:0001587	stop_gained	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213872491G>A	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1174C>T	2.37:g.213872491G>A	ENSP00000412869:p.Arg392*					IKZF2_ENST00000374319.4_Nonsense_Mutation_p.R366*|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000342002.2_Nonsense_Mutation_p.R398*|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.R320*|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.R318*|IKZF2_ENST00000434687.1_Nonsense_Mutation_p.R392*|IKZF2_ENST00000374327.4_Nonsense_Mutation_p.R247*	p.R392*	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	8	1342	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	392					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Nonsense_Mutation	SNP	ENST00000434687.1	37	c.1174C>T	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	G	37	6.022593	0.97211	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327;ENST00000542010	.	.	.	6.17	6.17	0.99709	.	0.102557	0.44483	D	0.000454	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-0.4371	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	392;398;392;366;320;318;247;96	.	ENSP00000342876:R398X	R	-	1	2	IKZF2	213580736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.083000	0.57643	2.941000	0.99782	0.655000	0.94253	CGA		0.502	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		44	130	0	0	0	1	0	44	130				
EIF2B2	8892	broad.mit.edu	37	14	75475827	75475827	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:75475827A>G	ENST00000266126.5	+	8	1072	c.992A>G	c.(991-993)aAt>aGt	p.N331S	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	331					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		ATTGGTGGGAATGCACCTTCC	0.493																																						ENST00000266126.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11						c.(991-993)aAt>aGt		eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa							376.0	303.0	327.0					14																	75475827		2203	4300	6503	SO:0001583	missense	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75475827A>G		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.992A>G	14.37:g.75475827A>G	ENSP00000266126:p.Asn331Ser						p.N331S	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	8	1072	+			331					O43201	Missense_Mutation	SNP	ENST00000266126.5	37	c.992A>G	CCDS9836.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.976385	0.74360	.	.	ENSG00000119718	ENST00000266126	D	0.92299	-3.01	5.77	5.77	0.91146	.	0.042945	0.85682	D	0.000000	D	0.94853	0.8337	M	0.65975	2.015	0.58432	D	0.999998	D	0.53619	0.961	P	0.62298	0.9	D	0.94306	0.7541	10	0.41790	T	0.15	-17.0792	16.0907	0.81088	1.0:0.0:0.0:0.0	.	331	P49770	EI2BB_HUMAN	S	331	ENSP00000266126:N331S	ENSP00000266126:N331S	N	+	2	0	EIF2B2	74545580	1.000000	0.71417	0.980000	0.43619	0.992000	0.81027	9.339000	0.96797	2.204000	0.70986	0.533000	0.62120	AAT		0.493	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		68	224	0	0	0	1	0	68	224				
ZNF699	374879	broad.mit.edu	37	19	9406700	9406700	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:9406700C>T	ENST00000591998.1	-	6	1608	c.1380G>A	c.(1378-1380)tcG>tcA	p.S460S	CTC-325H20.4_ENST00000591336.1_RNA|ZNF699_ENST00000308650.3_Silent_p.S460S			Q32M78	ZN699_HUMAN	zinc finger protein 699	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTCTAAAGGACGAGGGACAAC	0.448																																						ENST00000591998.1																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1378-1380)tcG>tcA		zinc finger protein 699							58.0	62.0	61.0					19																	9406700		2198	4299	6497	SO:0001819	synonymous_variant	374879				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9406700C>T	BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"""Zinc fingers, C2H2-type"", ""-"""	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.1380G>A	19.37:g.9406700C>T						ZNF699_ENST00000308650.3_Silent_p.S460S	p.S460S			Q32M78	ZN699_HUMAN			6	1608	-			460					Q8N9A1	Silent	SNP	ENST00000591998.1	37	c.1380G>A	CCDS42495.1																																																																																				0.448	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535		10	43	0	0	0	1	0	10	43				
UGT1A3	54659	broad.mit.edu	37	2	234638394	234638394	+	Missense_Mutation	SNP	A	A	C	rs140766748	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:234638394A>C	ENST00000482026.1	+	1	641	c.622A>C	c.(622-624)Atg>Ctg	p.M208L	UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.M208L|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	208					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)	p.M208L(5)		breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	CATGACATTCATGCAAAGGGT	0.443													N|||	8	0.00159744	0.0	0.0043	5008	,	,		22910	0.0		0.002	False		,,,				2504	0.0031					ENST00000482026.1																			5	Substitution - Missense(5)	p.M208L(5)	kidney(5)	breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46						c.(622-624)Atg>Ctg									240.0	226.0	231.0					2																	234638394		2203	4300	6503	SO:0001583	missense	54659							g.chr2:234638394A>C	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.622A>C	2.37:g.234638394A>C	ENSP00000418532:p.Met208Leu					UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron	p.M208L	NM_019093.2	NP_061966.1				Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	641	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	c.622A>C	CCDS2509.1	4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	1	0.0017482517482517483	1	0.0013192612137203166	N	0.210	-1.037728	0.02013	.	.	ENSG00000243135	ENST00000482026	T	0.59224	0.28	4.2	2.39	0.29439	.	.	.	.	.	T	0.14141	0.0342	N	0.01228	-0.945	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.27262	-1.0079	9	0.02654	T	1	.	2.6722	0.05070	0.1522:0.5404:0.1468:0.1606	.	208;208	Q5DT01;P35503	.;UD13_HUMAN	L	208	ENSP00000418532:M208L	ENSP00000418532:M208L	M	+	1	0	UGT1A3	234303133	0.000000	0.05858	0.890000	0.34922	0.615000	0.37417	-0.833000	0.04396	-0.018000	0.14079	-0.891000	0.02926	ATG		0.443	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		5	318	0	0	0	1	0	5	318				
PROSC	11212	broad.mit.edu	37	8	37632908	37632908	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:37632908A>G	ENST00000328195.3	+	6	573	c.506A>G	c.(505-507)aAc>aGc	p.N169S		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	169					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	GAGCACATAAACGCCAAGTGT	0.478																																						ENST00000328195.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(505-507)aAc>aGc		proline synthetase co-transcribed homolog (bacterial)	L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)						221.0	212.0	215.0					8																	37632908		2203	4300	6503	SO:0001583	missense	11212						pyridoxal phosphate binding	g.chr8:37632908A>G	AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"""proline synthetase co-transcribed (bacterial homolog)"""				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.506A>G	8.37:g.37632908A>G	ENSP00000333551:p.Asn169Ser						p.N169S	NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		6	573	+		Lung NSC(58;0.174)	169					Q6FI94	Missense_Mutation	SNP	ENST00000328195.3	37	c.506A>G	CCDS6096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.028|0.028	-1.352953|-1.352953	0.01256|0.01256	.|.	.|.	ENSG00000147471|ENSG00000147471	ENST00000328195;ENST00000523187;ENST00000523521|ENST00000521494	T;T;T|.	0.40476|.	1.03;1.03;1.03|.	5.8|5.8	2.01|2.01	0.26516|0.26516	Alanine racemase, N-terminal (1);|.	0.492382|.	0.23616|.	N|.	0.046281|.	T|T	0.08313|0.08313	0.0207|0.0207	N|N	0.01515|0.01515	-0.825|-0.825	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.29731|0.29731	-1.0002|-1.0002	10|5	0.07175|.	T|.	0.84|.	.|.	0.8564|0.8564	0.01183|0.01183	0.4734:0.1259:0.2243:0.1763|0.4734:0.1259:0.2243:0.1763	.|.	169|.	O94903|.	PROSC_HUMAN|.	S|A	169;117;98|138	ENSP00000333551:N169S;ENSP00000427886:N117S;ENSP00000429425:N98S|.	ENSP00000333551:N169S|.	N|T	+|+	2|1	0|0	PROSC|PROSC	37752066|37752066	0.997000|0.997000	0.39634|0.39634	0.023000|0.023000	0.16930|0.16930	0.245000|0.245000	0.25701|0.25701	3.657000|3.657000	0.54474|0.54474	0.106000|0.106000	0.17784|0.17784	0.533000|0.533000	0.62120|0.62120	AAC|ACG		0.478	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376796.1	NM_007198		67	285	0	0	0	1	0	67	285				
SPAG16	79582	broad.mit.edu	37	2	214239796	214239796	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:214239796G>A	ENST00000331683.5	+	9	990	c.895G>A	c.(895-897)Gcc>Acc	p.A299T	SPAG16_ENST00000374309.3_Missense_Mutation_p.A205T|SPAG16_ENST00000447990.1_Missense_Mutation_p.A299T|SPAG16_ENST00000272898.7_Missense_Mutation_p.A299T	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	299					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TCTTCGTGAAGCCAGGGAACA	0.318																																						ENST00000331683.5																			0				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(895-897)Gcc>Acc		sperm associated antigen 16							81.0	78.0	79.0					2																	214239796		2203	4299	6502	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214239796G>A	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.895G>A	2.37:g.214239796G>A	ENSP00000332592:p.Ala299Thr					SPAG16_ENST00000447990.1_Missense_Mutation_p.A299T|SPAG16_ENST00000374309.3_Missense_Mutation_p.A205T|SPAG16_ENST00000272898.7_Missense_Mutation_p.A299T	p.A299T	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	9	990	+		Renal(323;0.00461)	299					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.895G>A	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579367	0.46006	.	.	ENSG00000144451	ENST00000331683;ENST00000272898;ENST00000447990;ENST00000374309	T;T	0.59083	0.35;0.29	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000006	T	0.67924	0.2945	L	0.43152	1.355	0.38074	D	0.936475	D;P;B;D	0.89917	1.0;0.639;0.43;1.0	D;B;B;D	0.80764	0.994;0.187;0.052;0.994	T	0.71464	-0.4585	10	0.56958	D	0.05	.	13.6791	0.62472	0.0:0.0:1.0:0.0	.	205;150;239;299	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	T	299;299;299;205	ENSP00000332592:A299T;ENSP00000363428:A205T	ENSP00000272898:A299T	A	+	1	0	SPAG16	213948041	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	4.506000	0.60428	2.580000	0.87095	0.561000	0.74099	GCC		0.318	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		14	51	0	0	0	1	0	14	51				
PITPNM1	9600	broad.mit.edu	37	11	67264864	67264864	+	Missense_Mutation	SNP	G	G	A	rs527676618	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:67264864G>A	ENST00000534749.1	-	13	2172	c.1984C>T	c.(1984-1986)Cgg>Tgg	p.R662W	PITPNM1_ENST00000356404.3_Missense_Mutation_p.R662W|PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000436757.2_Missense_Mutation_p.R662W			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	662					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GTGCTTGCCCGCCGGGGCTCC	0.672													G|||	2	0.000399361	0.0	0.0	5008	,	,		12766	0.002		0.0	False		,,,				2504	0.0				GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(1984-1986)Cgg>Tgg		phosphatidylinositol transfer protein, membrane-associated 1							21.0	27.0	25.0					11																	67264864		2197	4286	6483	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67264864G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.1984C>T	11.37:g.67264864G>A	ENSP00000437286:p.Arg662Trp					PITPNM1_ENST00000436757.2_Missense_Mutation_p.R662W|PITPNM1_ENST00000534749.1_Missense_Mutation_p.R662W	p.R662W	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			14	2209	-			662					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.1984C>T	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671330	0.47781	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.46063	0.88;0.88;0.88	4.68	3.76	0.43208	.	0.438298	0.16905	N	0.194758	T	0.38054	0.1026	N	0.08118	0	0.30790	N	0.74103	D;B	0.89917	1.0;0.006	D;B	0.67382	0.951;0.001	T	0.34750	-0.9816	10	0.66056	D	0.02	-26.9189	6.264	0.20915	0.0958:0.0:0.7185:0.1857	.	662;662	O00562-2;O00562	.;PITM1_HUMAN	W	662	ENSP00000437286:R662W;ENSP00000398787:R662W;ENSP00000348772:R662W	ENSP00000348772:R662W	R	-	1	2	PITPNM1	67021440	0.955000	0.32602	0.607000	0.28956	0.762000	0.43233	2.006000	0.40874	1.089000	0.41292	-0.314000	0.08810	CGG		0.672	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		20	52	0	0	0	1	0	20	52				
BIRC6	57448	broad.mit.edu	37	2	32750697	32750697	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:32750697T>C	ENST00000421745.2	+	59	12054		c.e59+2			NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCTTGGCAGGTAATATTCCTC	0.373																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.e59+2		baculoviral IAP repeat containing 6							54.0	55.0	55.0					2																	32750697		2203	4300	6503	SO:0001630	splice_region_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32750697T>C	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.11920+2T>C	2.37:g.32750697T>C								NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			59	12054	+	Acute lymphoblastic leukemia(172;0.155)							Q9ULD1	Splice_Site	SNP	ENST00000421745.2	37		CCDS33175.2	.	.	.	.	.	.	.	.	.	.	T	23.2	4.389627	0.82902	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0183	0.80460	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	BIRC6	32604201	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	7.328000	0.79160	2.187000	0.69744	0.533000	0.62120	.		0.373	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Intron	13	64	0	0	0	1	0	13	64				
EDC3	80153	broad.mit.edu	37	15	74963875	74963875	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:74963875T>C	ENST00000315127.4	-	3	586	c.405A>G	c.(403-405)caA>caG	p.Q135Q	EDC3_ENST00000426797.3_Silent_p.Q135Q|EDC3_ENST00000568176.1_Silent_p.Q135Q	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	135					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TTGAGCACTGTTGCTGCTGCG	0.507																																						ENST00000315127.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(403-405)caA>caG		enhancer of mRNA decapping 3							155.0	133.0	140.0					15																	74963875		2197	4296	6493	SO:0001819	synonymous_variant	80153				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr15:74963875T>C	BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"""yjeF domain containing (E.coli)"", ""LSM16 homolog (EDC3, S. cerevisiae)"", ""enhancer of mRNA decapping 3 homolog (S. cerevisiae)"""	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.405A>G	15.37:g.74963875T>C						EDC3_ENST00000426797.3_Silent_p.Q135Q|EDC3_ENST00000568176.1_Silent_p.Q135Q	p.Q135Q	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN			3	586	-			135					B3KPH0|D3DW61|Q9H797	Silent	SNP	ENST00000315127.4	37	c.405A>G	CCDS10267.1																																																																																				0.507	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286399.1	NM_025083		22	103	0	0	0	1	0	22	103				
SLC45A4	57210	broad.mit.edu	37	8	142228901	142228901	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:142228901C>T	ENST00000024061.3	-	4	992	c.685G>A	c.(685-687)Gtc>Atc	p.V229I	SLC45A4_ENST00000433583.2_Missense_Mutation_p.V222I|SLC45A4_ENST00000519067.1_Missense_Mutation_p.V229I|SLC45A4_ENST00000517878.1_Missense_Mutation_p.V280I	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AAGGCAGGGACGCCGTGCGGC	0.677																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(685-687)Gtc>Atc		solute carrier family 45, member 4							71.0	75.0	74.0					8																	142228901		2203	4299	6502	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142228901C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.685G>A	8.37:g.142228901C>T	ENSP00000024061:p.Val229Ile					SLC45A4_ENST00000024061.3_Missense_Mutation_p.V229I|SLC45A4_ENST00000433583.2_Missense_Mutation_p.V222I|SLC45A4_ENST00000517878.1_Missense_Mutation_p.V280I	p.V229I			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	988	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		280					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.685G>A	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	0.196	-1.048599	0.01981	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061;ENST00000520137	T;T;T;T;T	0.43688	2.57;2.56;2.56;2.54;0.94	4.09	0.293	0.15742	.	5.925890	0.00166	N	0.000001	T	0.29126	0.0724	L	0.40543	1.245	0.09310	N	1	B;P;B	0.44816	0.436;0.844;0.002	B;B;B	0.30316	0.024;0.114;0.004	T	0.30327	-0.9982	10	0.17832	T	0.49	.	8.7528	0.34629	0.0:0.4264:0.0:0.5736	.	280;229;229	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	I	229;280;222;229;87	ENSP00000429059:V229I;ENSP00000428137:V280I;ENSP00000400799:V222I;ENSP00000024061:V229I;ENSP00000429033:V87I	ENSP00000024061:V229I	V	-	1	0	SLC45A4	142298083	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.799000	0.04560	-0.419000	0.07439	-0.355000	0.07637	GTC		0.677	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		84	200	0	0	0	1	0	84	200				
OR1L6	392390	broad.mit.edu	37	9	125512809	125512809	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:125512809G>T	ENST00000373684.1	+	1	791	c.791G>T	c.(790-792)aGa>aTa	p.R264I	OR1L6_ENST00000304720.2_Missense_Mutation_p.R228I			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						ACTGTGCTCAGAATCCCCTCT	0.502																																						ENST00000373684.1																			0				breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						c.(790-792)aGa>aTa		olfactory receptor, family 1, subfamily L, member 6							81.0	35.0	51.0					9																	125512809		2203	4297	6500	SO:0001583	missense	392390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125512809G>T		CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"""GPCR / Class A : Olfactory receptors"""	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.791G>T	9.37:g.125512809G>T	ENSP00000362788:p.Arg264Ile					OR1L6_ENST00000304720.2_Missense_Mutation_p.R228I	p.R264I			Q8NGR2	OR1L6_HUMAN			1	791	+			264					Q6IFM8|Q96R80	Missense_Mutation	SNP	ENST00000373684.1	37	c.791G>T		.	.	.	.	.	.	.	.	.	.	.	16.90	3.251113	0.59212	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.00267	8.38;8.38	4.62	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.204192	0.34676	N	0.003763	T	0.00412	0.0013	M	0.91612	3.225	0.48830	D	0.999712	D	0.56287	0.975	P	0.50490	0.642	T	0.68311	-0.5442	10	0.87932	D	0	-2.319	6.3572	0.21408	0.2834:0.0:0.7166:0.0	.	264	Q8NGR2	OR1L6_HUMAN	I	264;228	ENSP00000362788:R264I;ENSP00000304235:R228I	ENSP00000304235:R228I	R	+	2	0	OR1L6	124552630	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-0.394000	0.07296	1.305000	0.44909	0.655000	0.94253	AGA		0.502	OR1L6-201	KNOWN	basic	protein_coding	protein_coding				16	30	1	0	6.44725e-10	1	6.67513e-10	16	30				
DNAH1	25981	broad.mit.edu	37	3	52422520	52422520	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52422520C>T	ENST00000420323.2	+	58	9519	c.9258C>T	c.(9256-9258)gaC>gaT	p.D3086D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3086	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGTGGAGGACGGCATCGCCA	0.617																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(9256-9258)gaC>gaT		dynein, axonemal, heavy chain 1							39.0	49.0	45.0					3																	52422520		2195	4286	6481	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52422520C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.9258C>T	3.37:g.52422520C>T							p.D3086D	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	58	9519	+			3086			Stalk (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.9258C>T	CCDS46842.1																																																																																				0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		6	26	0	0	0	1	0	6	26				
PLIN2	123	broad.mit.edu	37	9	19118342	19118342	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:19118342T>C	ENST00000276914.2	-	7	1068	c.889A>G	c.(889-891)Act>Gct	p.T297A	PLIN2_ENST00000411567.1_Missense_Mutation_p.T216A	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	297					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						GACTCATCAGTATCATCATAT	0.413																																						ENST00000276914.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						c.(889-891)Act>Gct		perilipin 2							173.0	149.0	157.0					9																	19118342		2203	4300	6503	SO:0001583	missense	123				cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		g.chr9:19118342T>C	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.889A>G	9.37:g.19118342T>C	ENSP00000276914:p.Thr297Ala					PLIN2_ENST00000411567.1_Missense_Mutation_p.T216A	p.T297A	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN			7	1068	-			297					Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	c.889A>G	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	T	3.741	-0.053537	0.07362	.	.	ENSG00000147872	ENST00000411567;ENST00000276914	T;T	0.16597	2.33;2.33	5.77	3.43	0.39272	.	0.591860	0.18088	N	0.152079	T	0.12603	0.0306	L	0.43757	1.38	0.09310	N	1	B	0.13594	0.008	B	0.12837	0.008	T	0.38950	-0.9637	10	0.09843	T	0.71	.	8.226	0.31568	0.0:0.2749:0.0:0.7251	.	297	Q99541	PLIN2_HUMAN	A	216;297	ENSP00000415270:T216A;ENSP00000276914:T297A	ENSP00000276914:T297A	T	-	1	0	PLIN2	19108342	0.015000	0.18098	0.070000	0.20053	0.549000	0.35272	0.775000	0.26689	0.454000	0.26884	0.528000	0.53228	ACT		0.413	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122		21	62	0	0	0	1	0	21	62				
BOD1L1	259282	broad.mit.edu	37	4	13605598	13605598	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:13605598T>C	ENST00000040738.5	-	10	3061	c.2926A>G	c.(2926-2928)Act>Gct	p.T976A		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	976	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										GAAGAAGCAGTCTCTAATACA	0.378																																						ENST00000040738.5																			0											c.(2926-2928)Act>Gct		biorientation of chromosomes in cell division 1-like 1							196.0	203.0	201.0					4																	13605598		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13605598T>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2926A>G	4.37:g.13605598T>C	ENSP00000040738:p.Thr976Ala						p.T976A	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	3061	-			976			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.2926A>G	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	0.429	-0.904430	0.02453	.	.	ENSG00000038219	ENST00000040738	T	0.06294	3.32	5.4	0.118	0.14667	.	0.597033	0.16089	N	0.230124	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.43637	-0.9379	10	0.27785	T	0.31	0.0637	10.9059	0.47079	0.0:0.3314:0.0:0.6686	.	976	Q8NFC6	BOD1L_HUMAN	A	976	ENSP00000040738:T976A	ENSP00000040738:T976A	T	-	1	0	BOD1L	13214696	0.898000	0.30612	0.004000	0.12327	0.059000	0.15707	1.279000	0.33191	-0.490000	0.06707	-1.477000	0.00996	ACT		0.378	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		16	210	0	0	0	1	0	16	210				
E4F1	1877	broad.mit.edu	37	16	2285271	2285271	+	Missense_Mutation	SNP	G	G	A	rs529907238		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2285271G>A	ENST00000301727.4	+	14	2101	c.2053G>A	c.(2053-2055)Ggc>Agc	p.G685S	DNASE1L2_ENST00000564065.1_5'Flank|E4F1_ENST00000565090.1_Missense_Mutation_p.G508S|DNASE1L2_ENST00000567494.1_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000320700.5_5'Flank|DNASE1L2_ENST00000382437.4_5'Flank|E4F1_ENST00000564139.1_3'UTR	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	685					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						GGCTAGCGCCGGCCACCAGAT	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		17137	0.0		0.0	False		,,,				2504	0.001					ENST00000301727.4																			0				ovary(1)	1						c.(2053-2055)Ggc>Agc		E4F transcription factor 1							39.0	44.0	42.0					16																	2285271		2192	4292	6484	SO:0001583	missense	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2285271G>A	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.2053G>A	16.37:g.2285271G>A	ENSP00000301727:p.Gly685Ser					E4F1_ENST00000564139.1_3'UTR|E4F1_ENST00000565090.1_Missense_Mutation_p.G508S	p.G685S	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			14	2101	+			685					A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	c.2053G>A	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046032	0.36085	.	.	ENSG00000167967	ENST00000301727	T	0.35048	1.33	5.16	5.16	0.70880	.	0.147455	0.64402	D	0.000006	T	0.39627	0.1085	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	P	0.51016	0.656	T	0.33574	-0.9863	10	0.72032	D	0.01	-49.4992	17.2179	0.86949	0.0:0.0:1.0:0.0	.	685	Q66K89	E4F1_HUMAN	S	685	ENSP00000301727:G685S	ENSP00000301727:G685S	G	+	1	0	E4F1	2225272	1.000000	0.71417	0.941000	0.38009	0.363000	0.29612	4.916000	0.63362	2.420000	0.82092	0.561000	0.74099	GGC		0.672	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		35	108	0	0	0	1	0	35	108				
TRIM31	11074	broad.mit.edu	37	6	30076801	30076801	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:30076801A>G	ENST00000376734.3	-	5	893		c.e5+1		TRIM31_ENST00000540829.1_Splice_Site|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000485864.1_Splice_Site	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31						innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GGCCCATCATACCTGCACAAG	0.468																																						ENST00000376734.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						c.e5+1		tripartite motif containing 31							146.0	127.0	134.0					6																	30076801		1511	2709	4220	SO:0001630	splice_region_variant	11074					mitochondrion	ligase activity|zinc ion binding	g.chr6:30076801A>G	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16289	protein-coding gene	gene with protein product		609316	"""tripartite motif-containing 31"""			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.767+1T>C	6.37:g.30076801A>G						TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000485864.1_Splice_Site|TRIM31_ENST00000540829.1_Splice_Site		NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN			5	893	-								A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Splice_Site	SNP	ENST00000376734.3	37		CCDS34374.1	.	.	.	.	.	.	.	.	.	.	A	5.117	0.207249	0.09704	.	.	ENSG00000204616	ENST00000376734;ENST00000540829	.	.	.	4.03	2.89	0.33648	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5317	0.16989	0.8754:0.0:0.1246:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRIM31	30184780	0.988000	0.35896	0.923000	0.36655	0.051000	0.14879	1.445000	0.35079	1.798000	0.52647	0.448000	0.29417	.		0.468	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2		Intron	5	134	0	0	0	1	0	5	134				
TDRD6	221400	broad.mit.edu	37	6	46659508	46659508	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:46659508C>T	ENST00000316081.6	+	1	3643	c.3643C>T	c.(3643-3645)Cct>Tct	p.P1215S	TDRD6_ENST00000544460.1_Missense_Mutation_p.P1215S	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1215					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTCATATAAACCTCAGATCAA	0.299																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3643-3645)Cct>Tct		tudor domain containing 6							37.0	43.0	41.0					6																	46659508		2187	4289	6476	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46659508C>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3643C>T	6.37:g.46659508C>T	ENSP00000346065:p.Pro1215Ser					TDRD6_ENST00000316081.6_Missense_Mutation_p.P1215S	p.P1215S	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	3897	+			1215					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.3643C>T	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	1.705	-0.500535	0.04291	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.14640	2.49;2.49	5.73	4.84	0.62591	.	0.410761	0.26638	N	0.023262	T	0.02848	0.0085	N	0.25890	0.77	0.28216	N	0.926711	B;B	0.17465	0.022;0.013	B;B	0.14023	0.01;0.004	T	0.41520	-0.9504	10	0.16420	T	0.52	-8.9969	9.5407	0.39251	0.0:0.7651:0.1517:0.0832	.	1215;1215	F5H5M3;O60522	.;TDRD6_HUMAN	S	1215	ENSP00000443299:P1215S;ENSP00000346065:P1215S	ENSP00000346065:P1215S	P	+	1	0	TDRD6	46767467	0.009000	0.17119	0.438000	0.26821	0.104000	0.19210	0.346000	0.19997	1.361000	0.45981	0.655000	0.94253	CCT		0.299	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		14	53	0	0	0	1	0	14	53				
PARP10	84875	broad.mit.edu	37	8	145057500	145057500	+	Missense_Mutation	SNP	G	G	A	rs139166854	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145057500G>A	ENST00000313028.7	-	8	2351	c.2257C>T	c.(2257-2259)Cgc>Tgc	p.R753C	PARP10_ENST00000525773.1_Missense_Mutation_p.R765C|PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000524918.1_Missense_Mutation_p.R744C	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	753	Myc binding.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCTCCAGGCGAGCACGCAGC	0.706													G|||	4	0.000798722	0.003	0.0	5008	,	,		17665	0.0		0.0	False		,,,				2504	0.0					ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(2257-2259)Cgc>Tgc		poly (ADP-ribose) polymerase family, member 10			CYS/ARG	14,4388		0,14,2187	23.0	22.0	22.0		2257	2.3	0.0	8	dbSNP_134	22	0,8596		0,0,4298	yes	missense	PARP10	NM_032789.3	180	0,14,6485	AA,AG,GG		0.0,0.318,0.1077	probably-damaging	753/1026	145057500	14,12984	2201	4298	6499	SO:0001583	missense	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145057500G>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.2257C>T	8.37:g.145057500G>A	ENSP00000325618:p.Arg753Cys					PARP10_ENST00000524918.1_Missense_Mutation_p.R744C|PARP10_ENST00000525773.1_Missense_Mutation_p.R765C	p.R753C	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		8	2351	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		753			Myc binding.		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.2257C>T	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339344	0.24339	0.00318	0.0	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.11385	2.78;2.79;2.79	5.24	2.32	0.28847	.	0.380726	0.22500	N	0.059242	T	0.05686	0.0149	L	0.34521	1.04	0.09310	N	0.999998	P;P	0.34587	0.458;0.458	B;B	0.19391	0.025;0.025	T	0.36648	-0.9739	10	0.56958	D	0.05	.	2.1165	0.03715	0.1724:0.1568:0.5089:0.1619	.	765;753	E9PNI7;Q53GL7	.;PAR10_HUMAN	C	744;459;753;765	ENSP00000431620:R744C;ENSP00000325618:R753C;ENSP00000434776:R765C	ENSP00000325618:R753C	R	-	1	0	PARP10	145129488	0.005000	0.15991	0.002000	0.10522	0.093000	0.18481	1.512000	0.35812	0.183000	0.20059	0.639000	0.83563	CGC		0.706	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		9	32	0	0	0	1	0	9	32				
MUC16	94025	broad.mit.edu	37	19	9020058	9020058	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:9020058C>T	ENST00000397910.4	-	21	37640	c.37437G>A	c.(37435-37437)gaG>gaA	p.E12479E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12481	SEA 3. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGGCTCAGCTCCCAGTACA	0.552																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(37435-37437)gaG>gaA		mucin 16, cell surface associated							196.0	172.0	179.0					19																	9020058		1958	4157	6115	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9020058C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37437G>A	19.37:g.9020058C>T							p.E12479E	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			21	37640	-			12481			SEA 3.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.37437G>A	CCDS54212.1																																																																																				0.552	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	338	0	0	0	1	0	7	338				
SEMA4D	10507	broad.mit.edu	37	9	92002325	92002325	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:92002325A>G	ENST00000450295.1	-	12	2082	c.1306T>C	c.(1306-1308)Tat>Cat	p.Y436H	SEMA4D_ENST00000339861.4_Missense_Mutation_p.Y436H|SEMA4D_ENST00000438547.2_Missense_Mutation_p.Y436H|SEMA4D_ENST00000356444.2_Missense_Mutation_p.Y436H|SEMA4D_ENST00000422704.2_Missense_Mutation_p.Y436H|SEMA4D_ENST00000455551.2_Missense_Mutation_p.Y436H|SEMA4D_ENST00000343780.4_Missense_Mutation_p.Y436H|SEMA4D_ENST00000420987.1_Missense_Mutation_p.Y436H			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	436	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						ATGACATCATAGACAGTCCCA	0.527																																						ENST00000450295.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1306-1308)Tat>Cat		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							134.0	114.0	120.0					9																	92002325		2203	4300	6503	SO:0001583	missense	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:92002325A>G	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1306T>C	9.37:g.92002325A>G	ENSP00000416523:p.Tyr436His					SEMA4D_ENST00000343780.4_Missense_Mutation_p.Y436H|SEMA4D_ENST00000339861.4_Missense_Mutation_p.Y436H|SEMA4D_ENST00000420987.1_Missense_Mutation_p.Y436H|SEMA4D_ENST00000455551.2_Missense_Mutation_p.Y436H|SEMA4D_ENST00000356444.2_Missense_Mutation_p.Y436H|SEMA4D_ENST00000438547.2_Missense_Mutation_p.Y436H|SEMA4D_ENST00000422704.2_Missense_Mutation_p.Y436H	p.Y436H			Q92854	SEM4D_HUMAN			12	2082	-			436			Sema.		B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	ENST00000450295.1	37	c.1306T>C	CCDS6685.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.223862	0.39300	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56	5.54	3.2	0.36748	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.216594	0.49916	N	0.000127	T	0.14787	0.0357	L	0.37507	1.11	0.27505	N	0.95186	B;B	0.31485	0.325;0.227	B;B	0.41666	0.248;0.363	T	0.13308	-1.0514	10	0.40728	T	0.16	.	9.5383	0.39235	0.8544:0.0:0.1456:0.0	.	436;436	Q92854-2;Q92854	.;SEM4D_HUMAN	H	436	ENSP00000344923:Y436H;ENSP00000391733:Y436H;ENSP00000411981:Y436H;ENSP00000343418:Y436H;ENSP00000416523:Y436H;ENSP00000405102:Y436H;ENSP00000348822:Y436H;ENSP00000388768:Y436H	ENSP00000344923:Y436H	Y	-	1	0	SEMA4D	91192145	0.997000	0.39634	0.039000	0.18376	0.813000	0.45954	3.890000	0.56220	0.528000	0.28580	0.533000	0.62120	TAT		0.527	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		17	67	0	0	0	1	0	17	67				
NRCAM	4897	broad.mit.edu	37	7	107816895	107816895	+	Missense_Mutation	SNP	G	G	A	rs147348539		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:107816895G>A	ENST00000425651.2	-	24	3130	c.3131C>T	c.(3130-3132)gCa>gTa	p.A1044V	NRCAM_ENST00000379024.4_Missense_Mutation_p.A1025V|NRCAM_ENST00000413765.2_Missense_Mutation_p.A1025V|NRCAM_ENST00000379022.4_Missense_Mutation_p.A1044V|NRCAM_ENST00000379028.3_Missense_Mutation_p.A1044V|NRCAM_ENST00000351718.4_Missense_Mutation_p.A1028V	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1044	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGTTGTTACTGCTTCCTCTGT	0.308																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(3130-3132)gCa>gTa		neuronal cell adhesion molecule							130.0	128.0	128.0					7																	107816895		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107816895G>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3131C>T	7.37:g.107816895G>A	ENSP00000401244:p.Ala1044Val					NRCAM_ENST00000379024.4_Missense_Mutation_p.A1025V|NRCAM_ENST00000425651.2_Missense_Mutation_p.A1044V|NRCAM_ENST00000379022.4_Missense_Mutation_p.A1044V|NRCAM_ENST00000351718.4_Missense_Mutation_p.A1028V|NRCAM_ENST00000413765.2_Missense_Mutation_p.A1025V	p.A1044V			Q92823	NRCAM_HUMAN			27	3601	-			1044			Fibronectin type-III 4.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.3131C>T	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876004	0.72180	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65	5.62	4.72	0.59763	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.046604	0.85682	D	0.000000	T	0.62792	0.2457	L	0.50333	1.59	0.80722	D	1	P;P;B;B;B	0.42556	0.495;0.783;0.17;0.142;0.014	D;P;B;B;B	0.65323	0.934;0.777;0.119;0.14;0.014	T	0.57929	-0.7726	10	0.27082	T	0.32	.	16.3823	0.83472	0.0:0.1319:0.8681:0.0	.	1044;1025;1025;1028;1044	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	V	1044;1044;1025;1044;1028;1025;1044;1044	ENSP00000368314:A1044V;ENSP00000407858:A1025V;ENSP00000325269:A1028V;ENSP00000368310:A1025V;ENSP00000401244:A1044V;ENSP00000368308:A1044V	ENSP00000325269:A1028V	A	-	2	0	NRCAM	107604131	1.000000	0.71417	0.987000	0.45799	0.938000	0.57974	4.677000	0.61634	1.332000	0.45431	0.650000	0.86243	GCA		0.308	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		32	110	0	0	0	1	0	32	110				
NOS1	4842	broad.mit.edu	37	12	117660540	117660540	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:117660540G>A	ENST00000338101.4	-	26	4061	c.4057C>T	c.(4057-4059)Cgg>Tgg	p.R1353W	NOS1_ENST00000317775.6_Missense_Mutation_p.R1319W|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TCTGGCTCCCGGGAGTAAGCC	0.567																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3955-3957)Cgg>Tgg		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						140.0	143.0	142.0					12																	117660540		1949	4140	6089	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117660540G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4057C>T	12.37:g.117660540G>A	ENSP00000337459:p.Arg1353Trp					NOS1_ENST00000338101.4_Missense_Mutation_p.R1353W|NOS1_ENST00000344089.3_3'UTR	p.R1319W	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	26	4640	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1319						Missense_Mutation	SNP	ENST00000338101.4	37	c.3955C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905882	0.72868	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	D;D	0.83591	-1.74;-1.74	4.28	3.39	0.38822	Oxidoreductase FAD/NAD(P)-binding (1);	0.057088	0.64402	D	0.000001	D	0.94703	0.8291	H	0.99261	4.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96055	0.9034	10	0.87932	D	0	-29.8222	13.6053	0.62044	0.0:0.0:0.8437:0.1563	.	1319	P29475	NOS1_HUMAN	W	1214;1319;1353	ENSP00000320758:R1319W;ENSP00000337459:R1353W	ENSP00000320758:R1319W	R	-	1	2	NOS1	116144923	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.166000	0.50785	1.007000	0.39238	-0.152000	0.13540	CGG		0.567	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			104	168	0	0	0	1	0	104	168				
GRWD1	83743	broad.mit.edu	37	19	48956004	48956004	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:48956004C>T	ENST00000253237.5	+	7	1296	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	KCNJ14_ENST00000342291.2_5'Flank	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	355						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GCACGTGGCCCCCGTGACCTC	0.652																																						ENST00000253237.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19						c.(1063-1065)Ccc>Tcc		glutamate-rich WD repeat containing 1							66.0	65.0	65.0					19																	48956004		2203	4300	6503	SO:0001583	missense	83743					nucleolus		g.chr19:48956004C>T	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.1063C>T	19.37:g.48956004C>T	ENSP00000253237:p.Pro355Ser						p.P355S	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	7	1296	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	355					Q8TF59	Missense_Mutation	SNP	ENST00000253237.5	37	c.1063C>T	CCDS12720.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074394	0.94000	.	.	ENSG00000105447	ENST00000253237	T	0.60299	0.2	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.058531	0.64402	D	0.000002	T	0.76856	0.4046	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.76523	-0.2928	10	0.44086	T	0.13	.	18.1988	0.89831	0.0:1.0:0.0:0.0	.	355	Q9BQ67	GRWD1_HUMAN	S	355	ENSP00000253237:P355S	ENSP00000253237:P355S	P	+	1	0	GRWD1	53647816	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.155000	0.64900	2.686000	0.91538	0.561000	0.74099	CCC		0.652	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		33	112	0	0	0	1	0	33	112				
PPP1R9A	55607	broad.mit.edu	37	7	94539456	94539456	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:94539456A>G	ENST00000433881.1	+	2	563	c.31A>G	c.(31-33)Acc>Gcc	p.T11A	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.T11A|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T11A|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T11A|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T11A|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T11A			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	11	Actin-binding.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGGTGAACGAACCACTCTCAG	0.408										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(31-33)Acc>Gcc		protein phosphatase 1, regulatory subunit 9A							47.0	49.0	48.0					7																	94539456		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94539456A>G	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.31A>G	7.37:g.94539456A>G	ENSP00000398870:p.Thr11Ala	HNSCC(28;0.073)				PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T11A|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T11A|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T11A|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T11A|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.T11A	p.T11A	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	247	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		11			Actin-binding.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.31A>G	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	A	6.123	0.390892	0.11581	.	.	ENSG00000158528	ENST00000413325;ENST00000433360;ENST00000340694;ENST00000424654;ENST00000422324;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.16597	2.33;2.35;2.34;2.35;2.36;2.34	5.51	4.36	0.52297	.	0.330161	0.31589	N	0.007386	T	0.11452	0.0279	L	0.33485	1.01	0.24389	N	0.994752	B;B;B;B;B	0.24317	0.083;0.042;0.101;0.009;0.003	B;B;B;B;B	0.22880	0.037;0.042;0.042;0.005;0.003	T	0.11446	-1.0587	10	0.45353	T	0.12	.	4.8555	0.13557	0.6319:0.0:0.0852:0.2829	.	11;11;11;11;11	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	A	11	ENSP00000405514:T11A;ENSP00000344524:T11A;ENSP00000411342:T11A;ENSP00000398870:T11A;ENSP00000289495:T11A;ENSP00000402893:T11A	ENSP00000289495:T11A	T	+	1	0	PPP1R9A	94377392	0.986000	0.35501	0.975000	0.42487	0.021000	0.10359	2.450000	0.44943	2.236000	0.73375	0.533000	0.62120	ACC		0.408	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		6	37	0	0	0	1	0	6	37				
AHCTF1	25909	broad.mit.edu	37	1	247025261	247025261	+	Splice_Site	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:247025261C>A	ENST00000391829.2	-	28	3858	c.3735G>T	c.(3733-3735)ggG>ggT	p.G1245G	AHCTF1_ENST00000326225.3_Splice_Site_p.G1254G|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Splice_Site_p.G1280G			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1245	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCAAACTTACCCCAGGAATCC	0.343																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.e28+1		AT hook containing transcription factor 1							53.0	52.0	53.0					1																	247025261		2203	4300	6503	SO:0001630	splice_region_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247025261C>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3735+1G>T	1.37:g.247025261C>A						AHCTF1_ENST00000326225.3_Splice_Site_p.G1254_splice|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Splice_Site_p.G1245_splice	p.G1280_splice			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		28	3976	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1245			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Splice_Site	SNP	ENST00000391829.2	37	c.3840_splice																																																																																					0.343	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446	Silent	6	39	1	0	8.12818e-05	1	8.26188e-05	6	39				
CNTN5	53942	broad.mit.edu	37	11	100170002	100170002	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:100170002T>C	ENST00000524871.1	+	20	2784	c.2494T>C	c.(2494-2496)Tcc>Ccc	p.S832P	CNTN5_ENST00000527185.1_Missense_Mutation_p.S832P|CNTN5_ENST00000418526.2_Missense_Mutation_p.S758P|CNTN5_ENST00000279463.3_Missense_Mutation_p.S832P|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.S832P	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	832	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTCTGAAGCTTCCAAATTCAT	0.423																																						ENST00000524871.1																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2494-2496)Tcc>Ccc		contactin 5							84.0	80.0	82.0					11																	100170002		1868	4088	5956	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100170002T>C	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2494T>C	11.37:g.100170002T>C	ENSP00000435637:p.Ser832Pro					CNTN5_ENST00000279463.3_Missense_Mutation_p.S832P|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.S832P|CNTN5_ENST00000418526.2_Missense_Mutation_p.S758P|CNTN5_ENST00000527185.1_Missense_Mutation_p.S832P	p.S832P	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	20	2784	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	832			Fibronectin type-III 2.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.2494T>C	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.487337	0.63962	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.62	5.62	0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055019	0.64402	D	0.000001	T	0.61751	0.2372	L	0.55481	1.735	0.53688	D	0.999976	P;D	0.53312	0.949;0.959	P;P	0.55749	0.544;0.783	T	0.59611	-0.7422	10	0.33940	T	0.23	.	15.0047	0.71501	0.0:0.0:0.0:1.0	.	758;832	O94779-2;O94779	.;CNTN5_HUMAN	P	832;832;832;758;832	ENSP00000433575:S832P;ENSP00000436185:S832P;ENSP00000435637:S832P;ENSP00000393229:S758P;ENSP00000279463:S832P	ENSP00000279463:S832P	S	+	1	0	CNTN5	99675212	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.334000	0.65923	2.149000	0.67028	0.528000	0.53228	TCC		0.423	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		8	51	0	0	0	1	0	8	51				
MAPKBP1	23005	broad.mit.edu	37	15	42113858	42113858	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:42113858A>G	ENST00000456763.2	+	25	3009	c.2813A>G	c.(2812-2814)gAa>gGa	p.E938G	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.E932G|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.E932G|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E771G|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E815G	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	938										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCACAAGAGGAAGGGGTCTTT	0.512																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(2794-2796)gAa>gGa		mitogen-activated protein kinase binding protein 1							123.0	116.0	119.0					15																	42113858		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42113858A>G	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2813A>G	15.37:g.42113858A>G	ENSP00000393099:p.Glu938Gly					MAPKBP1_ENST00000514566.1_Missense_Mutation_p.E932G|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.E938G|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E771G|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E815G	p.E932G	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	24	3081	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	938					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.2795A>G	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	a	14.52	2.560861	0.45590	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.47869	1.02;1.17;0.83;1.06;1.17	5.58	5.58	0.84498	.	0.317119	0.35013	N	0.003516	T	0.36771	0.0979	L	0.32530	0.975	0.41438	D	0.9879	B;B;B;B;B;B	0.32467	0.099;0.079;0.372;0.016;0.263;0.206	B;B;B;B;B;B	0.32533	0.041;0.051;0.142;0.024;0.07;0.147	T	0.28490	-1.0042	10	0.42905	T	0.14	-14.1002	10.6215	0.45483	0.9242:0.0:0.0758:0.0	.	771;815;771;932;938;932	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	G	932;815;771;938;932	ENSP00000397570:E932G;ENSP00000221214:E815G;ENSP00000260357:E771G;ENSP00000393099:E938G;ENSP00000426154:E932G	ENSP00000221214:E815G	E	+	2	0	MAPKBP1	39901150	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.480000	0.60243	2.130000	0.65690	0.375000	0.23000	GAA		0.512	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		24	142	0	0	0	1	0	24	142				
GJA8	2703	broad.mit.edu	37	1	147380141	147380141	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:147380141T>C	ENST00000369235.1	+	1	59	c.59T>C	c.(58-60)gTc>gCc	p.V20A	GJA8_ENST00000240986.4_Missense_Mutation_p.V20A			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	20					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CACTCCACCGTCATCGGCAGA	0.562																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(58-60)gTc>gCc		gap junction protein, alpha 8, 50kDa							112.0	107.0	109.0					1																	147380141		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380141T>C	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.59T>C	1.37:g.147380141T>C	ENSP00000358238:p.Val20Ala					GJA8_ENST00000369235.1_Missense_Mutation_p.V20A	p.V20A	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	112	+	all_hematologic(923;0.0276)		20					A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.59T>C	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	t	18.14	3.557734	0.65425	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99121	-5.45;-5.45	5.03	5.03	0.67393	Connexin, N-terminal (1);	0.063532	0.64402	D	0.000008	D	0.96463	0.8846	L	0.48935	1.535	0.51012	D	0.999905	P	0.38148	0.62	B	0.36092	0.217	D	0.97217	0.9875	10	0.49607	T	0.09	.	14.7415	0.69458	0.0:0.0:0.0:1.0	.	20	P48165	CXA8_HUMAN	A	20	ENSP00000240986:V20A;ENSP00000358238:V20A	ENSP00000240986:V20A	V	+	2	0	GJA8	145846765	1.000000	0.71417	0.954000	0.39281	0.972000	0.66771	6.211000	0.72182	1.879000	0.54435	0.482000	0.46254	GTC		0.562	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		5	157	0	0	0	1	0	5	157				
CRTAC1	55118	broad.mit.edu	37	10	99695980	99695980	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:99695980T>C	ENST00000370597.3	-	3	723	c.368A>G	c.(367-369)gAc>gGc	p.D123G	CRTAC1_ENST00000370591.2_Missense_Mutation_p.D123G|CRTAC1_ENST00000298819.4_Missense_Mutation_p.D123G	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	123						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GCCGTCCCCGTCGATGTCGCA	0.632																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(367-369)gAc>gGc		cartilage acidic protein 1							88.0	67.0	74.0					10																	99695980		2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99695980T>C	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.368A>G	10.37:g.99695980T>C	ENSP00000359629:p.Asp123Gly					CRTAC1_ENST00000370591.2_Missense_Mutation_p.D123G|CRTAC1_ENST00000298819.4_Missense_Mutation_p.D123G	p.D123G	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	3	723	-		Colorectal(252;0.24)	123					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.368A>G	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410650	0.62399	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75004	-0.3470	10	0.72032	D	0.01	-27.1004	14.5044	0.67743	0.0:0.0:0.0:1.0	.	123;123	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	G	19;123;123;115;123	ENSP00000408445:D19G;ENSP00000359629:D123G;ENSP00000298819:D123G;ENSP00000310810:D115G;ENSP00000359623:D123G	ENSP00000298819:D123G	D	-	2	0	CRTAC1	99685970	1.000000	0.71417	0.997000	0.53966	0.116000	0.19942	7.928000	0.87587	1.841000	0.53522	0.379000	0.24179	GAC		0.632	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		20	78	0	0	0	1	0	20	78				
CTCF	10664	broad.mit.edu	37	16	67645477	67645477	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67645477A>G	ENST00000264010.4	+	3	1186	c.742A>G	c.(742-744)Aat>Gat	p.N248D	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	248					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGTGGTTGGTAATATGAAGCC	0.393																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(742-744)Aat>Gat		CCCTC-binding factor (zinc finger protein)							79.0	84.0	82.0					16																	67645477		2197	4291	6488	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67645477A>G	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.742A>G	16.37:g.67645477A>G	ENSP00000264010:p.Asn248Asp					CTCF_ENST00000401394.1_Intron	p.N248D	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	3	1186	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	248					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.742A>G	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943091	0.73672	.	.	ENSG00000102974	ENST00000264010	T	0.08896	3.04	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.08313	0.0207	N	0.19112	0.55	0.80722	D	1	P	0.48764	0.915	B	0.44224	0.444	T	0.28332	-1.0047	10	0.42905	T	0.14	.	15.5974	0.76595	1.0:0.0:0.0:0.0	.	248	P49711	CTCF_HUMAN	D	248	ENSP00000264010:N248D	ENSP00000264010:N248D	N	+	1	0	CTCF	66202978	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.895000	0.75660	2.271000	0.75665	0.533000	0.62120	AAT		0.393	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		31	96	0	0	0	1	0	31	96				
CFAP70	118491	broad.mit.edu	37	10	75058827	75058827	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:75058827A>T	ENST00000310715.3	-	15	1680	c.1560T>A	c.(1558-1560)aaT>aaA	p.N520K	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.N520K|TTC18_ENST00000355577.3_5'UTR|snoU13_ENST00000459292.1_RNA|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Missense_Mutation_p.N520K	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		520						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTCTAGAAATATTCTTGATCT	0.413																																						ENST00000310715.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1558-1560)aaT>aaA		tetratricopeptide repeat domain 18							95.0	90.0	91.0					10																	75058827		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75058827A>T																												ENST00000310715.3:c.1560T>A	10.37:g.75058827A>T	ENSP00000310829:p.Asn520Lys					TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Missense_Mutation_p.N520K|TTC18_ENST00000394865.1_Missense_Mutation_p.N520K|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR	p.N520K	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN			15	1680	-	Prostate(51;0.0119)		520					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.1560T>A	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	A	14.56	2.571065	0.45798	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000372928;ENST00000394865	D;D;D	0.92965	-3.14;-3.14;-3.14	5.35	1.2	0.21068	.	0.291495	0.37530	N	0.002055	D	0.85133	0.5627	L	0.36672	1.1	0.24258	N	0.99529	P;B	0.39782	0.688;0.411	B;B	0.37387	0.248;0.08	T	0.76088	-0.3087	10	0.42905	T	0.14	-7.8294	8.2862	0.31930	0.3778:0.0:0.6222:0.0	.	520;520	Q5T0N1-2;Q5T0N1	.;TTC18_HUMAN	K	520	ENSP00000310829:N520K;ENSP00000384479:N520K;ENSP00000378334:N520K	ENSP00000310829:N520K	N	-	3	2	TTC18	74728833	0.997000	0.39634	0.997000	0.53966	0.866000	0.49608	0.685000	0.25378	0.191000	0.20236	-0.479000	0.04858	AAT		0.413	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				22	50	0	0	0	1	0	22	50				
SMC1B	27127	broad.mit.edu	37	22	45802679	45802679	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:45802679T>C	ENST00000357450.4	-	3	365	c.366A>G	c.(364-366)gaA>gaG	p.E122E	SMC1B_ENST00000404354.3_Silent_p.E122E	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	122					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGCCTATCTTTTCCAACTCTG	0.299																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(364-366)gaA>gaG		structural maintenance of chromosomes 1B							81.0	78.0	79.0					22																	45802679		1815	4067	5882	SO:0001819	synonymous_variant	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45802679T>C	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.366A>G	22.37:g.45802679T>C						SMC1B_ENST00000404354.3_Silent_p.E122E	p.E122E	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	3	365	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	122					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Silent	SNP	ENST00000357450.4	37	c.366A>G	CCDS43027.1																																																																																				0.299	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		23	69	0	0	0	1	0	23	69				
GPR124	25960	broad.mit.edu	37	8	37704452	37704452	+	IGR	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:37704452A>G	ENST00000412232.2	+	0	5651				BRF2_ENST00000520601.1_Silent_p.T152T|BRF2_ENST00000220659.6_Silent_p.T152T	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCTGCATGTAAGTGCTAGAAA	0.527																																						ENST00000220659.6																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(454-456)acT>acC		BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit							239.0	229.0	232.0					8																	37704452		2203	4300	6503	SO:0001628	intergenic_variant	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37704452A>G	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182		8.37:g.37704452A>G						BRF2_ENST00000520601.1_Silent_p.T152T	p.T152T	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		3	576	-		Lung NSC(58;0.118)|all_lung(54;0.195)	152					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.456T>C	CCDS6097.2																																																																																				0.527	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			123	390	0	0	0	1	0	123	390				
MUC6	4588	broad.mit.edu	37	11	1017983	1017983	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1017983T>C	ENST00000421673.2	-	31	4868	c.4818A>G	c.(4816-4818)tcA>tcG	p.S1606S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1606	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTGAGGGTGTGATGGGGTTG	0.547																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4816-4818)tcA>tcG		mucin 6, oligomeric mucus/gel-forming							457.0	428.0	438.0					11																	1017983		2183	4277	6460	SO:0001819	synonymous_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017983T>C	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4818A>G	11.37:g.1017983T>C							p.S1606S	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	4868	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1606			Pro-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	c.4818A>G	CCDS44513.1																																																																																				0.547	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		23	465	0	0	0	1	0	23	465				
CHD2	1106	broad.mit.edu	37	15	93521521	93521521	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:93521521G>A	ENST00000394196.4	+	21	3703	c.2635G>A	c.(2635-2637)Gcg>Acg	p.A879T	CHD2_ENST00000557381.1_Missense_Mutation_p.A879T	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	879	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTTGGCTTCAGCGGACACAGT	0.493																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(2635-2637)Gcg>Acg		chromodomain helicase DNA binding protein 2							121.0	108.0	113.0					15																	93521521		2197	4298	6495	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93521521G>A	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2635G>A	15.37:g.93521521G>A	ENSP00000377747:p.Ala879Thr					CHD2_ENST00000557381.1_Missense_Mutation_p.A879T	p.A879T	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		21	3703	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		879			Helicase C-terminal.		C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.2635G>A	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	G	36	5.705629	0.96812	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.80824	-1.42;-1.42	5.82	5.82	0.92795	Helicase, C-terminal (3);	0.000000	0.33938	U	0.004420	D	0.95723	0.8609	H	0.99964	5.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.97777	1.0230	10	0.87932	D	0	-17.6295	20.1001	0.97870	0.0:0.0:1.0:0.0	.	879;879;879	A8K9Y5;O14647;O14647-2	.;CHD2_HUMAN;.	T	879	ENSP00000377747:A879T;ENSP00000451366:A879T	ENSP00000377747:A879T	A	+	1	0	CHD2	91322525	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.835000	0.99442	2.760000	0.94817	0.655000	0.94253	GCG		0.493	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		25	75	0	0	0	1	0	25	75				
PLPPR4	9890	broad.mit.edu	37	1	99771297	99771297	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:99771297A>G	ENST00000370185.3	+	7	1520	c.1023A>G	c.(1021-1023)agA>agG	p.R341R	LPPR4_ENST00000370184.1_Silent_p.R183R|LPPR4_ENST00000457765.1_Silent_p.R283R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		341					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TTCAGCACAGAGACGCCCTCA	0.448																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1021-1023)agA>agG									159.0	157.0	157.0					1																	99771297		2203	4300	6503	SO:0001819	synonymous_variant	9890						phosphatidate phosphatase activity	g.chr1:99771297A>G																												ENST00000370185.3:c.1023A>G	1.37:g.99771297A>G						LPPR4_ENST00000370184.1_Silent_p.R183R|LPPR4_ENST00000457765.1_Silent_p.R283R	p.R341R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1520	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	341					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	c.1023A>G	CCDS757.1																																																																																				0.448	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			39	105	0	0	0	1	0	39	105				
RAP1GAP2	23108	broad.mit.edu	37	17	2898720	2898720	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:2898720T>C	ENST00000254695.8	+	13	1094	c.1004T>C	c.(1003-1005)gTt>gCt	p.V335A	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.V335A|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.V320A|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.V316A	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	335	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						ATGTTTCACGTTTCCACAAAG	0.587																																						ENST00000254695.8																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(1003-1005)gTt>gCt		RAP1 GTPase activating protein 2							99.0	103.0	101.0					17																	2898720		2183	4299	6482	SO:0001583	missense	23108				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	g.chr17:2898720T>C	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1004T>C	17.37:g.2898720T>C	ENSP00000254695:p.Val335Ala					RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.V316A|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.V335A|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.V320A	p.V335A	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN			13	1094	+			335			Rap-GAP.		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	ENST00000254695.8	37	c.1004T>C	CCDS45573.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.410970	0.83340	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.97924	-4.61;-4.61;-4.61;-4.61	5.72	5.72	0.89469	Rap/ran-GAP (2);	0.104471	0.64402	D	0.000004	D	0.98845	0.9610	H	0.95187	3.635	0.80722	D	1	P;P	0.41420	0.704;0.749	P;P	0.52793	0.608;0.709	D	0.99461	1.0943	10	0.87932	D	0	-10.7933	15.1858	0.72999	0.0:0.0:0.0:1.0	.	320;335	Q684P5-2;Q684P5	.;RPGP2_HUMAN	A	335;320;316;335	ENSP00000254695:V335A;ENSP00000389824:V320A;ENSP00000439688:V316A;ENSP00000444890:V335A	ENSP00000254695:V335A	V	+	2	0	RAP1GAP2	2845470	1.000000	0.71417	0.735000	0.30896	0.628000	0.37860	8.008000	0.88588	2.191000	0.70037	0.533000	0.62120	GTT		0.587	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438208.2			41	136	0	0	0	1	0	41	136				
FOXJ2	55810	broad.mit.edu	37	12	8201971	8201971	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:8201971T>C	ENST00000162391.3	+	9	2486	c.1341T>C	c.(1339-1341)agT>agC	p.S447S	FOXJ2_ENST00000428177.2_Silent_p.S447S	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	447					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TGATGGAGAGTCTACGACAGG	0.522																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(1339-1341)agT>agC		forkhead box J2							168.0	139.0	149.0					12																	8201971		2203	4300	6503	SO:0001819	synonymous_variant	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 factor binding	g.chr12:8201971T>C	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1341T>C	12.37:g.8201971T>C						FOXJ2_ENST00000428177.2_Silent_p.S447S	p.S447S	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	9	2486	+			447					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Silent	SNP	ENST00000162391.3	37	c.1341T>C	CCDS8587.1																																																																																				0.522	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		51	194	0	0	0	1	0	51	194				
LRIG2	9860	broad.mit.edu	37	1	113638610	113638610	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:113638610A>G	ENST00000361127.5	+	7	1116	c.918A>G	c.(916-918)gcA>gcG	p.A306A		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	306					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		GCCCTGATGCATGGGAGTTCT	0.448																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(916-918)gcA>gcG		leucine-rich repeats and immunoglobulin-like domains 2							107.0	99.0	101.0					1																	113638610		2203	4300	6503	SO:0001819	synonymous_variant	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113638610A>G	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.918A>G	1.37:g.113638610A>G							p.A306A	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	7	1116	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	306					Q9NSN2	Silent	SNP	ENST00000361127.5	37	c.918A>G	CCDS30808.1																																																																																				0.448	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		10	46	0	0	0	1	0	10	46				
OSBPL5	114879	broad.mit.edu	37	11	3128514	3128514	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:3128514C>A	ENST00000263650.7	-	9	1197	c.1038G>T	c.(1036-1038)caG>caT	p.Q346H	OSBPL5_ENST00000525498.1_Missense_Mutation_p.Q257H|OSBPL5_ENST00000389989.3_Missense_Mutation_p.Q278H|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Missense_Mutation_p.Q278H	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	346					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCTCCTGGACCTGCTCCACAT	0.672																																						ENST00000263650.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1036-1038)caG>caT		oxysterol binding protein-like 5							47.0	52.0	50.0					11																	3128514		2202	4298	6500	SO:0001583	missense	114879				cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding	g.chr11:3128514C>A	AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1038G>T	11.37:g.3128514C>A	ENSP00000263650:p.Gln346His					OSBPL5_ENST00000348039.5_Missense_Mutation_p.Q278H|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000525498.1_Missense_Mutation_p.Q257H|OSBPL5_ENST00000389989.3_Missense_Mutation_p.Q278H	p.Q346H	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	9	1197	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	346					A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	ENST00000263650.7	37	c.1038G>T	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200025	0.38905	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000525498;ENST00000348039	T;T;T;T	0.33865	1.39;1.4;1.39;1.4	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000003	T	0.50650	0.1628	M	0.72894	2.215	0.80722	D	1	D;P;D;D	0.64830	0.988;0.935;0.994;0.988	P;P;P;P	0.61800	0.805;0.737;0.885;0.894	T	0.42649	-0.9439	10	0.24483	T	0.36	-5.8927	9.8735	0.41189	0.0:0.8412:0.0:0.1588	.	257;307;278;346	B4DVB0;E7EP03;Q8N596;Q9H0X9	.;.;.;OSBL5_HUMAN	H	346;278;257;278	ENSP00000263650:Q346H;ENSP00000374639:Q278H;ENSP00000433342:Q257H;ENSP00000302872:Q278H	ENSP00000263650:Q346H	Q	-	3	2	OSBPL5	3085090	0.985000	0.35326	0.997000	0.53966	0.097000	0.18754	2.541000	0.45735	2.503000	0.84419	0.561000	0.74099	CAG		0.672	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			32	117	1	0	3.03874e-20	1	3.202e-20	32	117				
MROH2B	133558	broad.mit.edu	37	5	41018457	41018457	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:41018457T>C	ENST00000399564.4	-	27	3199	c.2749A>G	c.(2749-2751)Aca>Gca	p.T917A	MROH2B_ENST00000506092.2_Missense_Mutation_p.T472A	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	917																	ATATCATTTGTCAGCACTTTC	0.408																																						ENST00000399564.4																			0											c.(2749-2751)Aca>Gca		maestro heat-like repeat family member 2B							100.0	91.0	94.0					5																	41018457		1873	4104	5977	SO:0001583	missense	133558							g.chr5:41018457T>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2749A>G	5.37:g.41018457T>C	ENSP00000382476:p.Thr917Ala					MROH2B_ENST00000506092.2_Missense_Mutation_p.T472A	p.T917A	NM_173489.4	NP_775760.3					27	3199	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.2749A>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	T	7.554	0.663228	0.14710	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.67865	-0.12;-0.29	5.96	2.31	0.28768	Armadillo-type fold (1);	0.784648	0.11837	N	0.524650	T	0.37679	0.1012	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.22765	-1.0207	10	0.10902	T	0.67	.	2.873	0.05623	0.1837:0.2079:0.0:0.6084	.	917	Q7Z745	HTRB2_HUMAN	A	472;622;917	ENSP00000441504:T472A;ENSP00000382476:T917A	ENSP00000296803:T622A	T	-	1	0	HEATR7B2	41054214	0.164000	0.22935	0.096000	0.21009	0.586000	0.36452	0.001000	0.13038	0.483000	0.27608	0.533000	0.62120	ACA		0.408	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		7	21	0	0	0	1	0	7	21				
LDLRAD3	143458	broad.mit.edu	37	11	36103271	36103271	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:36103271C>T	ENST00000315571.5	+	3	283	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	LDLRAD3_ENST00000524419.1_Missense_Mutation_p.R39C|LDLRAD3_ENST00000528989.1_Missense_Mutation_p.R39C	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	88	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CATCATTGGTCGCTTCCGGTG	0.517																																						ENST00000315571.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28						c.(262-264)Cgc>Tgc		low density lipoprotein receptor class A domain containing 3							163.0	133.0	144.0					11																	36103271		2202	4298	6500	SO:0001583	missense	143458					integral to membrane	receptor activity	g.chr11:36103271C>T	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.262C>T	11.37:g.36103271C>T	ENSP00000318607:p.Arg88Cys					LDLRAD3_ENST00000528989.1_Missense_Mutation_p.R39C|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.R39C	p.R88C	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN			3	283	+	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)	88			LDL-receptor class A 2.		B7Z1U3|B9EG81|Q8NBJ0	Missense_Mutation	SNP	ENST00000315571.5	37	c.262C>T	CCDS31462.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654429	0.88056	.	.	ENSG00000179241	ENST00000528989;ENST00000524419;ENST00000545142;ENST00000315571	D;D;D	0.95656	-3.77;-3.77;-3.77	5.95	5.95	0.96441	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97888	0.9306	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.97641	1.0148	10	0.51188	T	0.08	.	19.3906	0.94581	0.0:1.0:0.0:0.0	.	39;88	B7Z1U3;Q86YD5	.;LRAD3_HUMAN	C	39;39;88;88	ENSP00000433954:R39C;ENSP00000434313:R39C;ENSP00000318607:R88C	ENSP00000318607:R88C	R	+	1	0	LDLRAD3	36059847	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.583000	0.67484	2.827000	0.97445	0.650000	0.86243	CGC		0.517	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	NM_174902		37	94	0	0	0	1	0	37	94				
TENM1	10178	broad.mit.edu	37	X	124029909	124029909	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:124029909A>G	ENST00000371130.3	-	2	462	c.399T>C	c.(397-399)agT>agC	p.S133S	TENM1_ENST00000422452.2_Silent_p.S133S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	133	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACAAACAGGAACTATGCTCTG	0.458																																						ENST00000422452.2																			0											c.(397-399)agT>agC		teneurin transmembrane protein 1							275.0	226.0	243.0					X																	124029909		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:124029909A>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.399T>C	X.37:g.124029909A>G						TENM1_ENST00000371130.3_Silent_p.S133S	p.S133S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					2	462	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.399T>C	CCDS14609.1																																																																																				0.458	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		73	102	0	0	0	1	0	73	102				
KCNT2	343450	broad.mit.edu	37	1	196434491	196434491	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:196434491A>G	ENST00000294725.9	-	8	1485	c.570T>C	c.(568-570)cgT>cgC	p.R190R	KCNT2_ENST00000367431.4_Silent_p.R190R|KCNT2_ENST00000367433.5_Silent_p.R190R|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000609185.1_Silent_p.R190R|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	190					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGACTGTGTACGCTGAATGG	0.279																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(568-570)cgT>cgC		potassium channel, subfamily T, member 2							59.0	62.0	61.0					1																	196434491		2202	4273	6475	SO:0001819	synonymous_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196434491A>G	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.570T>C	1.37:g.196434491A>G						KCNT2_ENST00000294725.8_Silent_p.R190R|KCNT2_ENST00000367431.4_Silent_p.R190R|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000498426.1_5'UTR	p.R190R			Q6UVM3	KCNT2_HUMAN			8	671	-			190					Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	c.570T>C	CCDS1384.1																																																																																				0.279	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		15	52	0	0	0	1	0	15	52				
PPFIA4	8497	broad.mit.edu	37	1	203026055	203026055	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:203026055G>A	ENST00000447715.2	+	24	2759	c.2318G>A	c.(2317-2319)aGt>aAt	p.S773N	PPFIA4_ENST00000295706.4_Missense_Mutation_p.S289N|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S289N|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S502N|PPFIA4_ENST00000599966.1_Missense_Mutation_p.S289N|PPFIA4_ENST00000367240.2_Missense_Mutation_p.S774N			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	773					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ATCCAGCTGAGTCGGGATGGA	0.612																																						ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(2320-2322)aGt>aAt		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							58.0	65.0	62.0					1																	203026055		2134	4262	6396	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203026055G>A	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2318G>A	1.37:g.203026055G>A	ENSP00000402576:p.Ser773Asn					PPFIA4_ENST00000599966.1_Missense_Mutation_p.S289N|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S289N|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S502N|PPFIA4_ENST00000447715.2_Missense_Mutation_p.S773N|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S289N	p.S774N			O75335	LIPA4_HUMAN			18	2848	+			289					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.2321G>A		.	.	.	.	.	.	.	.	.	.	g	16.82	3.228131	0.58777	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.19	4.28	0.50868	.	0.000000	0.51477	U	0.000092	T	0.33089	0.0851	L	0.36672	1.1	0.42842	D	0.994057	B;B;B;B	0.28552	0.078;0.161;0.178;0.215	B;B;B;B	0.28991	0.097;0.066;0.073;0.046	T	0.12426	-1.0548	10	0.33141	T	0.24	-1.4842	11.9103	0.52735	0.0799:0.0:0.9201:0.0	.	502;773;289;289	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	N	774;773;289;502;289	ENSP00000356209:S774N;ENSP00000402576:S773N;ENSP00000295706:S289N;ENSP00000400379:S502N;ENSP00000272198:S289N	ENSP00000272198:S289N	S	+	2	0	PPFIA4	201292678	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.128000	0.64733	1.411000	0.46957	0.651000	0.88453	AGT		0.612	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		17	72	0	0	0	1	0	17	72				
PRSS16	10279	broad.mit.edu	37	6	27222538	27222538	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:27222538T>C	ENST00000230582.3	+	10	1232	c.1217T>C	c.(1216-1218)cTa>cCa	p.L406P	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.L149P	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	406					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAGCTAGACCTATGTGAGCAG	0.557																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1216-1218)cTa>cCa		protease, serine, 16 (thymus)							122.0	114.0	116.0					6																	27222538		2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27222538T>C	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1217T>C	6.37:g.27222538T>C	ENSP00000230582:p.Leu406Pro					PRSS16_ENST00000421826.2_Missense_Mutation_p.L149P|PRSS16_ENST00000377456.2_Intron	p.L406P	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			10	1232	+			406					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.1217T>C	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.147125	0.57151	.	.	ENSG00000112812	ENST00000421826;ENST00000230582	T;T	0.15372	2.43;2.43	4.68	4.68	0.58851	.	0.235045	0.33938	N	0.004409	T	0.28566	0.0707	M	0.83953	2.67	0.27580	N	0.949623	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.974	T	0.10497	-1.0627	10	0.35671	T	0.21	-7.3284	10.7158	0.46011	0.0:0.0:0.0:1.0	.	149;406	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	P	149;406	ENSP00000404349:L149P;ENSP00000230582:L406P	ENSP00000230582:L406P	L	+	2	0	PRSS16	27330517	0.122000	0.22280	0.022000	0.16811	0.939000	0.58152	3.619000	0.54196	2.106000	0.64143	0.455000	0.32223	CTA		0.557	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			6	163	0	0	0	1	0	6	163				
FN1	2335	broad.mit.edu	37	2	216284010	216284010	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:216284010G>T	ENST00000359671.1	-	12	2039	c.1774C>A	c.(1774-1776)Cgt>Agt	p.R592S	FN1_ENST00000336916.4_Missense_Mutation_p.R592S|FN1_ENST00000432072.2_Missense_Mutation_p.R592S|FN1_ENST00000346544.3_Missense_Mutation_p.R592S|FN1_ENST00000446046.1_Missense_Mutation_p.R592S|FN1_ENST00000421182.1_Missense_Mutation_p.R592S|FN1_ENST00000345488.5_Missense_Mutation_p.R592S|FN1_ENST00000357009.2_Missense_Mutation_p.R592S|FN1_ENST00000357867.4_Missense_Mutation_p.R592S|FN1_ENST00000323926.6_Missense_Mutation_p.R592S|FN1_ENST00000426059.1_Missense_Mutation_p.R592S|FN1_ENST00000356005.4_Missense_Mutation_p.R592S|FN1_ENST00000354785.4_Missense_Mutation_p.R592S|FN1_ENST00000443816.1_Missense_Mutation_p.R592S			P02751	FINC_HUMAN	fibronectin 1	592	Collagen-binding.|Fibronectin type-I 9. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CCAATGCCACGGCCATAGCAG	0.458																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1774-1776)Cgt>Agt		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						127.0	111.0	117.0					2																	216284010		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216284010G>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1774C>A	2.37:g.216284010G>T	ENSP00000352696:p.Arg592Ser					FN1_ENST00000421182.1_Missense_Mutation_p.R592S|FN1_ENST00000359671.1_Missense_Mutation_p.R592S|FN1_ENST00000357867.4_Missense_Mutation_p.R592S|FN1_ENST00000357009.2_Missense_Mutation_p.R592S|FN1_ENST00000336916.4_Missense_Mutation_p.R592S|FN1_ENST00000323926.6_Missense_Mutation_p.R592S|FN1_ENST00000345488.5_Missense_Mutation_p.R592S|FN1_ENST00000346544.3_Missense_Mutation_p.R592S|FN1_ENST00000356005.4_Missense_Mutation_p.R592S|FN1_ENST00000426059.1_Missense_Mutation_p.R592S|FN1_ENST00000432072.2_Missense_Mutation_p.R592S|FN1_ENST00000446046.1_Missense_Mutation_p.R592S|FN1_ENST00000443816.1_Missense_Mutation_p.R592S	p.R592S			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	12	2143	-		Renal(323;0.127)	592			Collagen-binding.|Fibronectin type-I 9.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1774C>A		.	.	.	.	.	.	.	.	.	.	G	29.4	5.003930	0.93287	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	6.06	6.06	0.98353	.	0.091904	0.46758	D	0.000266	T	0.59183	0.2175	L	0.51422	1.61	0.54753	D	0.999981	P;D;P;D;D;D;D;D;D;D;D	0.89917	0.866;1.0;0.954;0.972;0.965;0.971;0.982;1.0;0.965;0.965;1.0	P;D;P;P;B;B;P;D;B;B;D	0.85130	0.595;0.994;0.46;0.649;0.393;0.441;0.497;0.997;0.314;0.314;0.996	T	0.54957	-0.8215	10	0.48119	T	0.1	.	15.3505	0.74380	0.0:0.0:0.8605:0.1395	.	592;592;592;592;592;592;592;592;592;592;592	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	S	592	ENSP00000394423:R592S;ENSP00000323534:R592S;ENSP00000338200:R592S;ENSP00000350534:R592S;ENSP00000346839:R592S;ENSP00000352696:R592S;ENSP00000265312:R592S;ENSP00000273049:R592S;ENSP00000349509:R592S;ENSP00000410422:R592S;ENSP00000415018:R592S;ENSP00000399538:R592S;ENSP00000348285:R592S;ENSP00000398907:R592S	ENSP00000265313:R592S	R	-	1	0	FN1	215992255	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.035000	0.70940	2.882000	0.98803	0.655000	0.94253	CGT		0.458	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		16	74	1	0	0.000422831	1	0.000428339	16	74				
PIK3CA	5290	broad.mit.edu	37	3	178942528	178942528	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:178942528C>T	ENST00000263967.3	+	16	2492	c.2335C>T	c.(2335-2337)Ctg>Ttg	p.L779L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	779					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AAAAAGGCCACTGTGGTTGAA	0.353		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(2335-2337)Ctg>Ttg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							137.0	125.0	129.0					3																	178942528		1843	4095	5938	SO:0001819	synonymous_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178942528C>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2335C>T	3.37:g.178942528C>T		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.L779L	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		16	2492	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		779					Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	c.2335C>T	CCDS43171.1																																																																																				0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			18	92	0	0	0	1	0	18	92				
ABCC9	10060	broad.mit.edu	37	12	22013987	22013987	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:22013987T>C	ENST00000261201.4	-	19	2341	c.2342A>G	c.(2341-2343)tAc>tGc	p.Y781C	ABCC9_ENST00000345162.2_Missense_Mutation_p.Y745C|ABCC9_ENST00000261200.4_Missense_Mutation_p.Y781C|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	781	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GACAGCTTTGTACCTTTGGGA	0.328																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(2341-2343)tAc>tGc		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						110.0	107.0	108.0					12																	22013987		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22013987T>C	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2342A>G	12.37:g.22013987T>C	ENSP00000261201:p.Tyr781Cys					ABCC9_ENST00000345162.2_Missense_Mutation_p.Y745C|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.Y781C	p.Y781C	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			19	2341	-			781			ABC transporter 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.2342A>G	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.074270	0.76415	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27	5.03	5.03	0.67393	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96272	0.8784	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96823	0.9605	10	0.87932	D	0	-11.6172	14.926	0.70878	0.0:0.0:0.0:1.0	.	781;781	O60706;O60706-2	ABCC9_HUMAN;.	C	781;408;781;745	ENSP00000261200:Y781C;ENSP00000440521:Y408C;ENSP00000261201:Y781C;ENSP00000261202:Y745C	ENSP00000261200:Y781C	Y	-	2	0	ABCC9	21905254	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.782000	0.85680	2.113000	0.64589	0.460000	0.39030	TAC		0.328	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		19	63	0	0	0	1	0	19	63				
CDH4	1002	broad.mit.edu	37	20	60470078	60470078	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:60470078A>G	ENST00000360469.5	+	8	1251	c.1163A>G	c.(1162-1164)aAc>aGc	p.N388S	CDH4_ENST00000543233.1_Missense_Mutation_p.N314S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	388	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GTGAATGACAACCCGCCAGAA	0.567																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1162-1164)aAc>aGc		cadherin 4, type 1, R-cadherin (retinal)							213.0	171.0	185.0					20																	60470078		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60470078A>G	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1163A>G	20.37:g.60470078A>G	ENSP00000353656:p.Asn388Ser					CDH4_ENST00000543233.1_Missense_Mutation_p.N314S	p.N388S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		8	1251	+			388			Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.1163A>G	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.997821	0.54147	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.52754	0.65;0.65	4.6	3.5	0.40072	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.044656	0.85682	D	0.000000	T	0.47021	0.1423	M	0.83774	2.66	0.54753	D	0.999984	B	0.26775	0.159	B	0.21360	0.034	T	0.48736	-0.9009	9	.	.	.	.	9.4587	0.38772	0.915:0.0:0.085:0.0	.	388	P55283	CADH4_HUMAN	S	388;296;314	ENSP00000353656:N388S;ENSP00000443301:N314S	.	N	+	2	0	CDH4	59903473	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	6.830000	0.75319	1.712000	0.51347	0.477000	0.44152	AAC		0.567	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		50	132	0	0	0	1	0	50	132				
CPA4	51200	broad.mit.edu	37	7	129962361	129962361	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:129962361T>C	ENST00000222482.4	+	11	1139	c.1111T>C	c.(1111-1113)Tat>Cat	p.Y371H	CPA4_ENST00000445470.2_Missense_Mutation_p.Y338H|CPA4_ENST00000493259.1_Missense_Mutation_p.Y267H	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	371					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					CGACTGGGCATATGACAACGG	0.527																																						ENST00000222482.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1111-1113)Tat>Cat		carboxypeptidase A4							153.0	140.0	144.0					7																	129962361		2203	4300	6503	SO:0001583	missense	51200				histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129962361T>C	AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.1111T>C	7.37:g.129962361T>C	ENSP00000222482:p.Tyr371His					CPA4_ENST00000493259.1_Missense_Mutation_p.Y267H|CPA4_ENST00000445470.2_Missense_Mutation_p.Y338H	p.Y371H	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN			11	1139	+	Melanoma(18;0.0435)		371					B7Z576|Q86UY9	Missense_Mutation	SNP	ENST00000222482.4	37	c.1111T>C	CCDS5818.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143727	0.57044	.	.	ENSG00000128510	ENST00000445470;ENST00000222482;ENST00000538687;ENST00000493259	T;T;T	0.15372	2.43;2.43;2.43	5.75	5.75	0.90469	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.39253	0.1071	L	0.58354	1.805	0.80722	D	1	D;D	0.89917	0.983;1.0	D;D	0.91635	0.986;0.999	T	0.11743	-1.0575	10	0.62326	D	0.03	.	15.2483	0.73523	0.0:0.0:0.0:1.0	.	338;371	B7Z576;Q9UI42	.;CBPA4_HUMAN	H	338;371;176;267	ENSP00000412947:Y338H;ENSP00000222482:Y371H;ENSP00000419660:Y267H	ENSP00000222482:Y371H	Y	+	1	0	CPA4	129749597	1.000000	0.71417	0.082000	0.20525	0.008000	0.06430	8.013000	0.88655	2.192000	0.70111	0.460000	0.39030	TAT		0.527	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352		4	155	0	0	0	1	0	4	155				
NIPBL	25836	broad.mit.edu	37	5	36975950	36975950	+	Missense_Mutation	SNP	T	T	A	rs368151265		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:36975950T>A	ENST00000282516.8	+	9	1440	c.941T>A	c.(940-942)aTc>aAc	p.I314N	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.I314N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	314					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCACCAGATATCTTGCTAGAT	0.373																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(940-942)aTc>aAc		Nipped-B homolog (Drosophila)							102.0	107.0	105.0					5																	36975950		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36975950T>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.941T>A	5.37:g.36975950T>A	ENSP00000282516:p.Ile314Asn					NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.I314N	p.I314N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		9	1440	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		314					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.941T>A	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.437748	0.62955	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.94046	-3.34;-3.34	5.14	5.14	0.70334	.	0.152299	0.46758	D	0.000269	D	0.87176	0.6112	N	0.19112	0.55	0.39635	D	0.97023	P;P	0.42518	0.675;0.782	B;B	0.39738	0.1;0.308	D	0.86366	0.1720	10	0.17832	T	0.49	.	14.9485	0.71050	0.0:0.0:0.0:1.0	.	314;314	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	N	314	ENSP00000282516:I314N;ENSP00000406266:I314N	ENSP00000282516:I314N	I	+	2	0	NIPBL	37011707	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.505000	0.66981	1.935000	0.56089	0.383000	0.25322	ATC		0.373	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		21	116	0	0	0	1	0	21	116				
PCDHB12	56124	broad.mit.edu	37	5	140589601	140589601	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140589601C>A	ENST00000239450.2	+	1	1311	c.1122C>A	c.(1120-1122)gaC>gaA	p.D374E	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D37E	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	374	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGACAGAGACTCTGGGGACA	0.443																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1120-1122)gaC>gaA									71.0	67.0	69.0					5																	140589601		2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589601C>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1122C>A	5.37:g.140589601C>A	ENSP00000239450:p.Asp374Glu					PCDHB12_ENST00000541609.1_Missense_Mutation_p.D37E	p.D374E	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1311	+			374			Cadherin 4.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1122C>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315634	0.40996	.	.	ENSG00000120328	ENST00000541609;ENST00000239450	T;T	0.73789	-0.78;-0.78	4.06	-0.0321	0.13906	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.90181	0.6931	H	0.98980	4.39	0.28863	N	0.895393	D	0.76494	0.999	D	0.75484	0.986	T	0.82125	-0.0612	9	0.87932	D	0	.	9.3592	0.38186	0.0:0.5247:0.0:0.4753	.	374	Q9Y5F1	PCDBC_HUMAN	E	37;374	ENSP00000440199:D37E;ENSP00000239450:D374E	ENSP00000239450:D374E	D	+	3	2	PCDHB12	140569785	0.002000	0.14202	0.968000	0.41197	0.324000	0.28378	-1.168000	0.03123	-0.003000	0.14444	0.491000	0.48974	GAC		0.443	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		15	64	1	0	6.31663e-08	1	6.50258e-08	15	64				
DNAH9	1770	broad.mit.edu	37	17	11738013	11738013	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:11738013A>G	ENST00000262442.4	+	49	9373	c.9305A>G	c.(9304-9306)gAa>gGa	p.E3102G	DNAH9_ENST00000454412.2_Missense_Mutation_p.E3102G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3102	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGAAAAATGAAGATGCAGAC	0.507																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(9304-9306)gAa>gGa		dynein, axonemal, heavy chain 9							91.0	76.0	81.0					17																	11738013		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11738013A>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9305A>G	17.37:g.11738013A>G	ENSP00000262442:p.Glu3102Gly					DNAH9_ENST00000454412.2_Missense_Mutation_p.E3102G	p.E3102G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	49	9373	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3102			Stalk (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9305A>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.111760	0.77210	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.80480	-1.38;-1.38	5.17	4.09	0.47781	Dynein heavy chain, coiled coil stalk (1);	0.115764	0.56097	D	0.000023	D	0.87613	0.6221	M	0.86178	2.8	0.80722	D	1	P	0.37731	0.607	P	0.51974	0.686	D	0.86179	0.1605	10	0.38643	T	0.18	.	12.4189	0.55510	0.8597:0.1403:0.0:0.0	.	3102	Q9NYC9	DYH9_HUMAN	G	3102;3102;1684	ENSP00000262442:E3102G;ENSP00000414874:E3102G	ENSP00000262442:E3102G	E	+	2	0	DNAH9	11678738	0.998000	0.40836	0.999000	0.59377	0.993000	0.82548	3.846000	0.55888	0.975000	0.38392	0.533000	0.62120	GAA		0.507	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		11	29	0	0	0	1	0	11	29				
AGTPBP1	23287	broad.mit.edu	37	9	88272527	88272527	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:88272527T>C	ENST00000357081.3	-	10	876	c.732A>G	c.(730-732)ggA>ggG	p.G244G	AGTPBP1_ENST00000376081.4_Intron|AGTPBP1_ENST00000337006.4_Missense_Mutation_p.I174V|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.I174V|AGTPBP1_ENST00000376109.3_Silent_p.G296G|AGTPBP1_ENST00000376083.3_Silent_p.G244G|AGTPBP1_ENST00000432218.1_Silent_p.G82G			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	244					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CTTGGACATATCCTCTGTCTA	0.343																																						ENST00000337006.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(520-522)Ata>Gta		ATP/GTP binding protein 1							71.0	62.0	65.0					9																	88272527		2203	4300	6503	SO:0001819	synonymous_variant	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88272527T>C	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.732A>G	9.37:g.88272527T>C						AGTPBP1_ENST00000376080.1_Missense_Mutation_p.I174V|AGTPBP1_ENST00000357081.3_Silent_p.G244G|AGTPBP1_ENST00000432218.1_Silent_p.G82G|AGTPBP1_ENST00000376081.4_Intron|AGTPBP1_ENST00000376083.3_Silent_p.G244G|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376109.3_Silent_p.G296G	p.I174V			Q9UPW5	CBPC1_HUMAN			9	981	-			0					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.520A>G		.	.	.	.	.	.	.	.	.	.	T	1.576	-0.532822	0.04112	.	.	ENSG00000135049	ENST00000337006;ENST00000376080	.	.	.	5.55	1.69	0.24217	.	.	.	.	.	T	0.13286	0.0322	.	.	.	0.20403	N	0.999903	.	.	.	.	.	.	T	0.29761	-1.0001	5	0.02654	T	1	-22.1748	8.1817	0.31315	0.0:0.0696:0.376:0.5544	.	.	.	.	V	174	.	ENSP00000338512:I174V	I	-	1	0	AGTPBP1	87462347	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.507000	0.22675	0.384000	0.24942	0.528000	0.53228	ATA		0.343	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		3	34	0	0	0	1	0	3	34				
UMOD	7369	broad.mit.edu	37	16	20355487	20355487	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:20355487T>C	ENST00000570689.1	-	6	1336	c.1190A>G	c.(1189-1191)gAa>gGa	p.E397G	UMOD_ENST00000302509.4_Missense_Mutation_p.E397G|UMOD_ENST00000396134.2_Missense_Mutation_p.E430G|UMOD_ENST00000424589.1_Missense_Mutation_p.E430G|UMOD_ENST00000396138.4_Missense_Mutation_p.E446G|UMOD_ENST00000396142.2_Missense_Mutation_p.E397G|UMOD_ENST00000570331.1_5'Flank			P07911	UROM_HUMAN	uromodulin	397	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGCATGGGTTTCATTCCTCTG	0.517																																						ENST00000396134.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1288-1290)gAa>gGa		uromodulin							130.0	111.0	117.0					16																	20355487		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20355487T>C	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1190A>G	16.37:g.20355487T>C	ENSP00000460548:p.Glu397Gly					UMOD_ENST00000396138.4_Missense_Mutation_p.E446G|UMOD_ENST00000302509.4_Missense_Mutation_p.E397G|UMOD_ENST00000396142.2_Missense_Mutation_p.E397G|UMOD_ENST00000424589.1_Missense_Mutation_p.E430G|UMOD_ENST00000570689.1_Missense_Mutation_p.E397G	p.E430G	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN			7	1412	-			397			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1289A>G	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.605412	0.28623	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	5.56	4.44	0.53790	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.126247	0.36167	N	0.002745	T	0.75895	0.3912	N	0.03050	-0.425	0.31477	N	0.667681	D;B	0.76494	0.999;0.013	D;B	0.66847	0.947;0.05	T	0.74481	-0.3651	10	0.21014	T	0.42	-20.3869	10.8799	0.46933	0.0:0.0:0.1581:0.8419	.	430;397	E9PEA4;P07911	.;UROM_HUMAN	G	397;430;430;397;375;397	ENSP00000379438:E430G;ENSP00000416346:E430G;ENSP00000306279:E397G;ENSP00000379446:E397G	ENSP00000306279:E397G	E	-	2	0	UMOD	20262988	0.999000	0.42202	0.961000	0.40146	0.541000	0.35023	1.348000	0.33987	0.899000	0.36444	0.533000	0.62120	GAA		0.517	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			17	61	0	0	0	1	0	17	61				
BST1	683	broad.mit.edu	37	4	15716967	15716967	+	Silent	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:15716967A>C	ENST00000265016.4	+	5	789	c.594A>C	c.(592-594)ggA>ggC	p.G198G	BST1_ENST00000382346.3_Silent_p.G213G	NM_004334.2	NP_004325.2	Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	198					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|transferase activity (GO:0016740)			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						AGCCAACAGGAGCCTATCCCA	0.373																																						ENST00000382346.3																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						c.(637-639)ggA>ggC		bone marrow stromal cell antigen 1							106.0	101.0	102.0					4																	15716967		2203	4300	6503	SO:0001819	synonymous_variant	683				humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity	g.chr4:15716967A>C	D21878	CCDS3416.1	4p15	2010-05-04			ENSG00000109743	ENSG00000109743	3.2.2.5	"""CD molecules"""	1118	protein-coding gene	gene with protein product	"""NAD(+) nucleosidase"", ""ADP-ribosyl cyclase 2"""	600387				8202488	Standard	NM_004334		Approved	CD157	uc003goh.4	Q10588	OTTHUMG00000097739	ENST00000265016.4:c.594A>C	4.37:g.15716967A>C						BST1_ENST00000265016.4_Silent_p.G198G	p.G213G			Q10588	BST1_HUMAN			6	688	+			198					B2R6A2|Q1XII0|Q5U0K0|Q96EN3	Silent	SNP	ENST00000265016.4	37	c.639A>C	CCDS3416.1	.	.	.	.	.	.	.	.	.	.	A	10.23	1.292601	0.23564	.	.	ENSG00000109743	ENST00000505785;ENST00000514989	.	.	.	6.16	3.75	0.43078	.	.	.	.	.	T	0.57799	0.2078	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51593	-0.8686	4	.	.	.	-28.4464	7.7456	0.28866	0.8374:0.0:0.1626:0.0	.	.	.	.	A	94;6	.	.	E	+	2	0	BST1	15326065	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.785000	0.38684	0.569000	0.29329	0.528000	0.53228	GAG		0.373	BST1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214968.2	NM_004334		8	41	0	0	0	1	0	8	41				
SUPT16H	11198	broad.mit.edu	37	14	21836475	21836475	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:21836475T>C	ENST00000216297.2	-	7	1246	c.908A>G	c.(907-909)aAc>aGc	p.N303S		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	303					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GAGCAAAAAGTTATAATTTTC	0.408																																						ENST00000216297.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(907-909)aAc>aGc		suppressor of Ty 16 homolog (S. cerevisiae)							84.0	83.0	83.0					14																	21836475		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21836475T>C	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.908A>G	14.37:g.21836475T>C	ENSP00000216297:p.Asn303Ser						p.N303S	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	7	1246	-	all_cancers(95;0.00115)		303					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.908A>G	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	T	9.211	1.030927	0.19590	.	.	ENSG00000092201	ENST00000216297;ENST00000538230	T	0.76839	-1.05	5.56	5.56	0.83823	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	T	0.70640	0.3247	L	0.49699	1.58	0.80722	D	1	B	0.15473	0.013	B	0.20384	0.029	T	0.64508	-0.6391	10	0.19147	T	0.46	-20.5596	11.4787	0.50312	0.0:0.0:0.1502:0.8498	.	303	Q9Y5B9	SP16H_HUMAN	S	303	ENSP00000216297:N303S	ENSP00000216297:N303S	N	-	2	0	SUPT16H	20906315	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.442000	0.44873	2.241000	0.73720	0.533000	0.62120	AAC		0.408	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			9	99	0	0	0	1	0	9	99				
OPHN1	4983	broad.mit.edu	37	X	67316710	67316710	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:67316710A>G	ENST00000355520.5	-	19	2328		c.e19+1		OPHN1_ENST00000540071.1_Splice_Site|OPHN1_ENST00000484842.1_Splice_Site	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1						actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GAAAATGCATACCTTGCCAAA	0.478																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.e19+1		oligophrenin 1							163.0	134.0	144.0					X																	67316710		2203	4300	6503	SO:0001630	splice_region_variant	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67316710A>G	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.1686+1T>C	X.37:g.67316710A>G						OPHN1_ENST00000484842.1_Splice_Site|OPHN1_ENST00000540071.1_Splice_Site		NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN			19	2328	-								B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Splice_Site	SNP	ENST00000355520.5	37		CCDS14388.1	.	.	.	.	.	.	.	.	.	.	A	18.58	3.654110	0.67472	.	.	ENSG00000079482	ENST00000355520;ENST00000540071;ENST00000540607	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3907	0.44166	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OPHN1	67233435	1.000000	0.71417	0.918000	0.36340	0.917000	0.54804	5.490000	0.66881	1.572000	0.49736	0.417000	0.27973	.		0.478	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547	Intron	7	77	0	0	0	1	0	7	77				
TDG	6996	broad.mit.edu	37	12	104376936	104376936	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:104376936C>T	ENST00000392872.3	+	6	871	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C	TDG_ENST00000544861.1_Missense_Mutation_p.R70C|TDG_ENST00000542036.1_Intron|AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000266775.9_Missense_Mutation_p.R209C	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	213					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TGAAGGAGGACGTATTCTAGT	0.249								Base excision repair (BER), DNA glycosylases																														ENST00000392872.3																			0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(637-639)Cgt>Tgt	Base excision repair (BER), DNA glycosylases	thymine-DNA glycosylase							98.0	107.0	104.0					12																	104376936		2176	4287	6463	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104376936C>T	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.637C>T	12.37:g.104376936C>T	ENSP00000376611:p.Arg213Cys					TDG_ENST00000544861.1_Missense_Mutation_p.R70C|TDG_ENST00000266775.9_Missense_Mutation_p.R209C|TDG_ENST00000542036.1_Intron	p.R213C	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	6	871	+			213					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.637C>T	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106170	0.77096	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000537100	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.4	5.4	0.78164	Uracil-DNA glycosylase-like (3);	0.168143	0.50627	D	0.000105	T	0.66655	0.2811	M	0.77406	2.37	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.54856	0.762;0.762	T	0.71948	-0.4438	10	0.87932	D	0	-12.0369	14.0666	0.64834	0.1507:0.8493:0.0:0.0	.	213;213	B2R848;Q13569	.;TDG_HUMAN	C	213;209;70;206	ENSP00000376611:R213C;ENSP00000266775:R209C;ENSP00000445899:R70C;ENSP00000439825:R206C	ENSP00000266775:R209C	R	+	1	0	TDG	102901066	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.303000	0.51858	2.518000	0.84900	0.563000	0.77884	CGT		0.249	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			47	268	0	0	0	1	0	47	268				
MIB1	57534	broad.mit.edu	37	18	19423102	19423102	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:19423102A>G	ENST00000261537.6	+	14	2237	c.1973A>G	c.(1972-1974)aAc>aGc	p.N658S	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	658					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GGTAATGCAAACCTGGATATC	0.353																																						ENST00000261537.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(1972-1974)aAc>aGc		mindbomb E3 ubiquitin protein ligase 1							120.0	97.0	105.0					18																	19423102		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19423102A>G	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1973A>G	18.37:g.19423102A>G	ENSP00000261537:p.Asn658Ser					MIB1_ENST00000578646.1_3'UTR	p.N658S	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		14	2237	+			658					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.1973A>G	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.620372	0.46736	.	.	ENSG00000101752	ENST00000261537	T	0.66099	-0.19	5.18	5.18	0.71444	Ankyrin repeat-containing domain (4);	0.096580	0.64402	D	0.000001	T	0.56140	0.1965	L	0.45051	1.395	0.53005	D	0.999964	B	0.02656	0.0	B	0.04013	0.001	T	0.55373	-0.8151	10	0.62326	D	0.03	-14.5417	15.0282	0.71684	1.0:0.0:0.0:0.0	.	658	Q86YT6	MIB1_HUMAN	S	658	ENSP00000261537:N658S	ENSP00000261537:N658S	N	+	2	0	MIB1	17677100	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.054000	0.64275	1.964000	0.57103	0.460000	0.39030	AAC		0.353	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		10	21	0	0	0	1	0	10	21				
B3GNT4	79369	broad.mit.edu	37	12	122691149	122691149	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:122691149T>C	ENST00000324189.4	+	3	707	c.351T>C	c.(349-351)gaT>gaC	p.D117D	B3GNT4_ENST00000546192.1_Silent_p.D92D|B3GNT4_ENST00000535274.1_Silent_p.D92D|B3GNT4_ENST00000545141.1_Intron	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	117					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		GTTCCAAGGATACCTTCTTGC	0.607																																						ENST00000535274.1																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(274-276)gaT>gaC		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4							220.0	216.0	218.0					12																	122691149		2203	4300	6503	SO:0001819	synonymous_variant	79369				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr12:122691149T>C	AB049586	CCDS9227.1	12q24	2013-02-19						"""Beta 3-glycosyltransferases"""	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.351T>C	12.37:g.122691149T>C						B3GNT4_ENST00000546192.1_Silent_p.D92D|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Silent_p.D117D	p.D92D			Q9C0J1	B3GN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)	1	2003	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		117					Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Silent	SNP	ENST00000324189.4	37	c.276T>C	CCDS9227.1																																																																																				0.607	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	NM_030765		6	427	0	0	0	1	0	6	427				
MAP3K1	4214	broad.mit.edu	37	5	56180610	56180610	+	Silent	SNP	G	G	A	rs199940554		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:56180610G>A	ENST00000399503.3	+	16	3939	c.3939G>A	c.(3937-3939)acG>acA	p.T1313T		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1313	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGGGAGCCACGTGTGAGAAGA	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		19345	0.0		0.001	False		,,,				2504	0.0					ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(3937-3939)acG>acA		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase		G		0,3824		0,0,1912	111.0	103.0	105.0		3939	-11.3	0.2	5		105	1,8259		0,1,4129	no	coding-synonymous	MAP3K1	NM_005921.1		0,1,6041	AA,AG,GG		0.0121,0.0,0.0083		1313/1513	56180610	1,12083	1912	4130	6042	SO:0001819	synonymous_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56180610G>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3939G>A	5.37:g.56180610G>A							p.T1313T	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	16	3939	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1313			Protein kinase.			Silent	SNP	ENST00000399503.3	37	c.3939G>A	CCDS43318.1																																																																																				0.363	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		6	39	0	0	0	1	0	6	39				
PCDHB3	56132	broad.mit.edu	37	5	140481581	140481581	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140481581G>A	ENST00000231130.2	+	1	1348	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	450	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGCCCCCGCCTTCACCCA	0.562																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1348-1350)Gcc>Acc									96.0	92.0	93.0					5																	140481581		2203	4299	6502	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481581G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1348G>A	5.37:g.140481581G>A	ENSP00000231130:p.Ala450Thr					AC005754.7_ENST00000607216.1_RNA	p.A450T	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1348	+			450			Cadherin 4.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1348G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	2.052	-0.417453	0.04766	.	.	ENSG00000113205	ENST00000231130	T	0.01767	4.65	4.39	0.842	0.18927	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.01189	0.0039	N	0.21617	0.685	0.09310	N	1	B	0.13145	0.007	B	0.15052	0.012	T	0.49753	-0.8906	9	0.15952	T	0.53	.	1.8758	0.03218	0.339:0.1255:0.4075:0.128	.	450	Q9Y5E6	PCDB3_HUMAN	T	450	ENSP00000231130:A450T	ENSP00000231130:A450T	A	+	1	0	PCDHB3	140461765	0.000000	0.05858	0.014000	0.15608	0.199000	0.23934	-0.805000	0.04530	0.032000	0.15435	-0.127000	0.14921	GCC		0.562	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		84	214	0	0	0	1	0	84	214				
ULK4	54986	broad.mit.edu	37	3	41977350	41977350	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:41977350A>G	ENST00000301831.4	-	4	783	c.321T>C	c.(319-321)agT>agC	p.S107S	ULK4_ENST00000420927.1_Silent_p.S107S	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	107	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GATGTAATCCACTAATCAGGT	0.358																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(319-321)agT>agC		unc-51 like kinase 4							130.0	126.0	127.0					3																	41977350		1872	4104	5976	SO:0001819	synonymous_variant	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41977350A>G	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.321T>C	3.37:g.41977350A>G						ULK4_ENST00000420927.1_Silent_p.S107S	p.S107S	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	4	783	-			107			Protein kinase.		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Silent	SNP	ENST00000301831.4	37	c.321T>C	CCDS43071.1																																																																																				0.358	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		10	96	0	0	0	1	0	10	96				
TNRC6B	23112	broad.mit.edu	37	22	40660731	40660731	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:40660731A>G	ENST00000454349.2	+	5	708	c.497A>G	c.(496-498)aAt>aGt	p.N166S	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.N166S|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	166	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|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 translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						AATTATGCAAATTCCACTTGG	0.488																																						ENST00000454349.2																			0				breast(1)	1						c.(496-498)aAt>aGt		trinucleotide repeat containing 6B							49.0	47.0	47.0					22																	40660731		1886	4124	6010	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40660731A>G	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.497A>G	22.37:g.40660731A>G	ENSP00000401946:p.Asn166Ser					TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.N166S	p.N166S	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			5	708	+			166					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.497A>G	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506848	0.44558	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	T;T	0.18960	2.25;2.18	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	L	0.55213	1.73	0.54753	D	0.999983	P;D	0.67145	0.956;0.996	D;D	0.77557	0.931;0.99	T	0.12656	-1.0539	10	0.42905	T	0.14	-6.7392	14.7038	0.69174	1.0:0.0:0.0:0.0	.	166;166	Q9UPQ9;Q9UPQ9-1	TNR6B_HUMAN;.	S	166	ENSP00000401946:N166S;ENSP00000338371:N166S	ENSP00000338371:N166S	N	+	2	0	TNRC6B	38990677	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.861000	0.92277	2.070000	0.61991	0.528000	0.53228	AAT		0.488	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				22	36	0	0	0	1	0	22	36				
IZUMO2	126123	broad.mit.edu	37	19	50666224	50666224	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:50666224T>C	ENST00000293405.3	-	1	228	c.228A>G	c.(226-228)aaA>aaG	p.K76K		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	76						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						ACGCACCCACTTTCCCCACAA	0.687																																						ENST00000293405.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(226-228)aaA>aaG		IZUMO family member 2							42.0	47.0	46.0					19																	50666224		1980	4163	6143	SO:0001819	synonymous_variant	126123					integral to membrane		g.chr19:50666224T>C	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.228A>G	19.37:g.50666224T>C							p.K76K	NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN			1	228	-			76					Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Silent	SNP	ENST00000293405.3	37	c.228A>G	CCDS12792.2																																																																																				0.687	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		24	73	0	0	0	1	0	24	73				
COL19A1	1310	broad.mit.edu	37	6	70639566	70639566	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:70639566C>T	ENST00000322773.4	+	6	742	c.640C>T	c.(640-642)Cga>Tga	p.R214*		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	214	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TATTGCTACGCGAGCTTCAGA	0.363																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(640-642)Cga>Tga		collagen, type XIX, alpha 1							87.0	86.0	86.0					6																	70639566		2203	4300	6503	SO:0001587	stop_gained	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70639566C>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.640C>T	6.37:g.70639566C>T	ENSP00000316030:p.Arg214*						p.R214*	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			6	742	+			214			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Nonsense_Mutation	SNP	ENST00000322773.4	37	c.640C>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211533	0.79240	.	.	ENSG00000082293	ENST00000322773	.	.	.	5.96	4.14	0.48551	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3409	0.74296	0.2554:0.7445:0.0:0.0	.	.	.	.	X	214	.	ENSP00000316030:R214X	R	+	1	2	COL19A1	70696287	0.997000	0.39634	0.208000	0.23602	0.018000	0.09664	3.490000	0.53245	0.809000	0.34255	-0.181000	0.13052	CGA		0.363	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			30	91	0	0	0	1	0	30	91				
IMPACT	55364	broad.mit.edu	37	18	22020584	22020584	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:22020584T>C	ENST00000284202.4	+	6	631		c.e6+2		RP11-178F10.1_ENST00000579049.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein						negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					CTCGGACAGGTATAATGTTAC	0.338																																						ENST00000284202.4																			0				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16						c.e6+2		impact RWD domain protein							135.0	134.0	135.0					18																	22020584		2203	4300	6503	SO:0001630	splice_region_variant	55364							g.chr18:22020584T>C	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.490+2T>C	18.37:g.22020584T>C								NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN			6	631	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)							A8MXG0|Q49AM0|Q9H2X4	Splice_Site	SNP	ENST00000284202.4	37		CCDS11886.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.863927	0.32884	.	.	ENSG00000154059	ENST00000284202	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5954	0.50970	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	IMPACT	20274582	1.000000	0.71417	0.991000	0.47740	0.246000	0.25737	4.301000	0.59086	1.991000	0.58162	0.460000	0.39030	.		0.338	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439	Intron	32	102	0	0	0	1	0	32	102				
DSC3	1825	broad.mit.edu	37	18	28602353	28602353	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:28602353C>T	ENST00000360428.4	-	7	971	c.891G>A	c.(889-891)gtG>gtA	p.V297V	DSC3_ENST00000434452.1_Silent_p.V297V	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	297	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGCTGGGATGCACAGAAAAGA	0.483																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(889-891)gtG>gtA		desmocollin 3							149.0	128.0	135.0					18																	28602353		2203	4300	6503	SO:0001819	synonymous_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28602353C>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.891G>A	18.37:g.28602353C>T						DSC3_ENST00000360428.4_Silent_p.V297V	p.V297V	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		7	1045	-			297			Cadherin 2.		A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	c.891G>A	CCDS32810.1																																																																																				0.483	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		24	79	0	0	0	1	0	24	79				
ZBED1	9189	broad.mit.edu	37	X	2408097	2408097	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:2408097C>T	ENST00000381223.4	-	2	867	c.664G>A	c.(664-666)Gcc>Acc	p.A222T	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.A222T|ZBED1_ENST00000381218.3_Missense_Mutation_p.A222T|ZBED1_ENST00000515319.1_5'Flank	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	222					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGTTGGGGGCGCCCAGGCCC	0.647																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(664-666)Gcc>Acc		zinc finger, BED-type containing 1							93.0	101.0	98.0					X																	2408097		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2408097C>T	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.664G>A	X.37:g.2408097C>T	ENSP00000370621:p.Ala222Thr					ZBED1_ENST00000381218.3_Missense_Mutation_p.A222T|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.A222T	p.A222T	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	867	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	222					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.664G>A	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-4.015781	0.00002	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218;ENST00000461691	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	3.21	-6.41	0.01938	Ribonuclease H-like (1);	1.757000	0.03638	N	0.239078	T	0.08044	0.0201	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12553	-1.0543	9	0.07325	T	0.83	-22.3277	2.6158	0.04903	0.1711:0.2628:0.3956:0.1705	.	222	O96006	ZBED1_HUMAN	T	222	ENSP00000370621:A222T;ENSP00000370620:A222T;ENSP00000370616:A222T;ENSP00000419148:A222T	ENSP00000370616:A222T	A	-	1	0	ZBED1	2418097	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.542000	0.02196	-5.220000	0.00019	-2.271000	0.00274	GCC		0.647	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		74	203	0	0	0	1	0	74	203				
PTPRH	5794	broad.mit.edu	37	19	55708058	55708058	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:55708058C>G	ENST00000376350.3	-	10	2111	c.2089G>C	c.(2089-2091)Gag>Cag	p.E697Q	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.E519Q	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	697	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ACCTCCAACTCAAAGGCCTCG	0.617																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(2089-2091)Gag>Cag		protein tyrosine phosphatase, receptor type, H							68.0	61.0	63.0					19																	55708058		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55708058C>G		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2089G>C	19.37:g.55708058C>G	ENSP00000365528:p.Glu697Gln					PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.E519Q	p.E697Q	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	10	2111	-		Renal(1328;0.245)	697			Fibronectin type-III 8.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.2089G>C	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041987	0.55003	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.06687	3.27;4.26	5.33	-4.42	0.03579	Fibronectin, type III (1);	0.697070	0.11859	N	0.522610	T	0.05227	0.0139	N	0.19112	0.55	0.09310	N	1	P;P;P	0.43542	0.712;0.81;0.6	B;P;P	0.45343	0.278;0.469;0.477	T	0.39663	-0.9603	10	0.15499	T	0.54	.	7.5566	0.27827	0.0:0.2769:0.5255:0.1976	.	519;519;697	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	Q	697;519	ENSP00000365528:E697Q;ENSP00000263434:E519Q	ENSP00000263434:E519Q	E	-	1	0	PTPRH	60399870	0.000000	0.05858	0.000000	0.03702	0.394000	0.30568	-0.652000	0.05366	-0.288000	0.09051	0.644000	0.83932	GAG		0.617	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			28	54	0	0	0	1	0	28	54				
FBXL4	26235	broad.mit.edu	37	6	99353378	99353378	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:99353378G>A	ENST00000369244.2	-	6	1455	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	FBXL4_ENST00000229971.1_Missense_Mutation_p.R343C	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	343					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		AGAGTGCAGCGAGACTGTAGA	0.448																																						ENST00000369244.2																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18						c.(1027-1029)Cgc>Tgc		F-box and leucine-rich repeat protein 4							172.0	161.0	165.0					6																	99353378		2203	4300	6503	SO:0001583	missense	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99353378G>A	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1027C>T	6.37:g.99353378G>A	ENSP00000358247:p.Arg343Cys					FBXL4_ENST00000229971.1_Missense_Mutation_p.R343C	p.R343C			Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	6	1455	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	343					B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	c.1027C>T	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643789	0.87859	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.18016	2.24;2.24	5.28	5.28	0.74379	.	0.049091	0.85682	D	0.000000	T	0.39009	0.1062	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.38499	-0.9658	10	0.72032	D	0.01	.	17.0875	0.86615	0.0:0.0:1.0:0.0	.	343	Q9UKA2	FBXL4_HUMAN	C	343	ENSP00000358247:R343C;ENSP00000229971:R343C	ENSP00000229971:R343C	R	-	1	0	FBXL4	99460099	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.476000	0.97823	2.473000	0.83533	0.591000	0.81541	CGC		0.448	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			40	114	0	0	0	1	0	40	114				
XIST	7503	broad.mit.edu	37	X	73066398	73066398	+	lincRNA	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:73066398G>T	ENST00000429829.1	-	0	6190					NR_001564.2				X inactive specific transcript (non-protein coding)																		GTGCGATTACGCACATAAATG	0.473																																						ENST00000429829.1																			0																				193.0	164.0	173.0					X																	73066398		876	1991	2867			7503							g.chrX:73066398G>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73066398G>T								NR_001564.2						0	6190	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.473	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		37	37	1	0	4.14481e-20	1	4.36647e-20	37	37				
CPB2	1361	broad.mit.edu	37	13	46632473	46632473	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:46632473T>C	ENST00000181383.4	-	9	856	c.840A>G	c.(838-840)ggA>ggG	p.G280G	CPB2-AS1_ENST00000415033.2_RNA|CPB2_ENST00000439329.3_Silent_p.G243G|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	280					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CAGGATAAAGTCCACAGTAGG	0.418																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(838-840)ggA>ggG		carboxypeptidase B2 (plasma)							176.0	156.0	163.0					13																	46632473		2203	4300	6503	SO:0001819	synonymous_variant	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46632473T>C	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.840A>G	13.37:g.46632473T>C						CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Silent_p.G243G|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA	p.G280G	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	9	856	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	280					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Silent	SNP	ENST00000181383.4	37	c.840A>G	CCDS9401.1																																																																																				0.418	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		4	113	0	0	0	1	0	4	113				
WDR3	10885	broad.mit.edu	37	1	118497252	118497252	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:118497252T>C	ENST00000349139.5	+	23	2456		c.e23+2		SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AGTATCTCAGTGAGTAAAATG	0.363																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.e23+2		WD repeat domain 3							129.0	128.0	128.0					1																	118497252		2203	4300	6503	SO:0001630	splice_region_variant	10885					nuclear membrane|nucleolus		g.chr1:118497252T>C	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2409+2T>C	1.37:g.118497252T>C						SPAG17_ENST00000336338.5_Intron		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	23	2456	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)							Splice_Site	SNP	ENST00000349139.5	37		CCDS898.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415910	0.83449	.	.	ENSG00000065183	ENST00000349139	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9638	0.79950	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR3	118298775	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.744000	0.74854	2.223000	0.72356	0.491000	0.48974	.		0.363	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784	Intron	22	90	0	0	0	1	0	22	90				
ARPP21	10777	broad.mit.edu	37	3	35778820	35778820	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:35778820C>T	ENST00000187397.4	+	16	2066	c.1610C>T	c.(1609-1611)cCg>cTg	p.P537L	ARPP21_ENST00000417925.1_Missense_Mutation_p.P503L|ARPP21_ENST00000458225.1_Missense_Mutation_p.P503L|ARPP21_ENST00000444190.1_Missense_Mutation_p.P483L|ARPP21_ENST00000337271.5_Missense_Mutation_p.P483L	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	537	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GTCCAGCCACCGCAGCCACAG	0.642																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1609-1611)cCg>cTg		cAMP-regulated phosphoprotein, 21kDa																																				SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35778820C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1610C>T	3.37:g.35778820C>T	ENSP00000187397:p.Pro537Leu					ARPP21_ENST00000458225.1_Missense_Mutation_p.P503L|ARPP21_ENST00000337271.5_Missense_Mutation_p.P483L|ARPP21_ENST00000417925.1_Missense_Mutation_p.P503L|ARPP21_ENST00000444190.1_Missense_Mutation_p.P483L	p.P537L	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			16	2066	+			537			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1610C>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204338	0.38905	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.48522	0.81;0.81;0.81;1.11;0.81	5.59	4.71	0.59529	.	0.376544	0.26457	N	0.024261	T	0.37785	0.1016	L	0.53249	1.67	0.24777	N	0.992831	P;B;P;P	0.38535	0.583;0.296;0.635;0.583	B;B;B;B	0.26770	0.071;0.058;0.073;0.071	T	0.26052	-1.0114	10	0.27082	T	0.32	0.1262	13.8956	0.63770	0.2772:0.7228:0.0:0.0	.	503;25;537;483	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	L	503;483;483;537;503	ENSP00000414351:P503L;ENSP00000337792:P483L;ENSP00000405276:P483L;ENSP00000187397:P537L;ENSP00000412326:P503L	ENSP00000187397:P537L	P	+	2	0	ARPP21	35753824	0.062000	0.20869	0.016000	0.15963	0.813000	0.45954	1.752000	0.38349	1.495000	0.48549	0.655000	0.94253	CCG		0.642	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		13	51	0	0	0	1	0	13	51				
WWC3	55841	broad.mit.edu	37	X	10098008	10098008	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:10098008G>A	ENST00000380861.4	+	18	2836	c.2445G>A	c.(2443-2445)gcG>gcA	p.A815A	WWC3_ENST00000454666.1_Silent_p.A815A	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	815					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GTTGGCAAGCGGACTCGGTGG	0.547																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(2443-2445)gcG>gcA		WWC family member 3							114.0	89.0	97.0					X																	10098008		2203	4300	6503	SO:0001819	synonymous_variant	55841							g.chrX:10098008G>A	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2445G>A	X.37:g.10098008G>A						WWC3_ENST00000454666.1_Silent_p.A815A	p.A815A	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			18	2836	+			815					A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	c.2445G>A	CCDS14136.1																																																																																				0.547	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		4	86	0	0	0	1	0	4	86				
UNC13A	23025	broad.mit.edu	37	19	17740047	17740047	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17740047A>G	ENST00000519716.2	-	31	3753		c.e31+1		UNC13A_ENST00000550896.1_Splice_Site|UNC13A_ENST00000551649.1_Splice_Site|UNC13A_ENST00000252773.7_Splice_Site|UNC13A_ENST00000552293.1_Splice_Site|UNC13A_ENST00000428389.2_Splice_Site	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)						beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CCCTCAGGTCACCACTTTCTC	0.572																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.e32+1		unc-13 homolog A (C. elegans)							96.0	89.0	91.0					19																	17740047		1994	4173	6167	SO:0001630	splice_region_variant	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17740047A>G	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3753+1T>C	19.37:g.17740047A>G						UNC13A_ENST00000552293.1_Splice_Site|UNC13A_ENST00000519716.2_Splice_Site|UNC13A_ENST00000551649.1_Splice_Site|UNC13A_ENST00000252773.7_Splice_Site|UNC13A_ENST00000550896.1_Splice_Site				Q9UPW8	UN13A_HUMAN			32	4017	-								E5RHY9	Splice_Site	SNP	ENST00000519716.2	37		CCDS46013.2	.	.	.	.	.	.	.	.	.	.	A	15.90	2.970653	0.53614	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	.	.	.	3.59	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5789	0.33617	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UNC13A	17601047	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	6.665000	0.74442	1.267000	0.44247	0.241000	0.17934	.		0.572	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	Intron	5	22	0	0	0	1	0	5	22				
DHRS7C	201140	broad.mit.edu	37	17	9680546	9680546	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:9680546T>C	ENST00000330255.5	-	4	550	c.538A>G	c.(538-540)Atc>Gtc	p.I180V	DHRS7C_ENST00000571134.1_Missense_Mutation_p.I179V	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	180					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TTCCCTTGGATATTATTCACT	0.413																																						ENST00000330255.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						c.(538-540)Atc>Gtc		dehydrogenase/reductase (SDR family) member 7C							129.0	121.0	124.0					17																	9680546		1927	4129	6056	SO:0001583	missense	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9680546T>C		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.538A>G	17.37:g.9680546T>C	ENSP00000327975:p.Ile180Val					DHRS7C_ENST00000571134.1_Missense_Mutation_p.I179V	p.I180V	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN			4	550	-			180					B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	c.538A>G	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	T	9.536	1.112140	0.20795	.	.	ENSG00000184544	ENST00000330255	D	0.86297	-2.1	5.18	3.97	0.46021	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.207410	0.49916	D	0.000137	T	0.67468	0.2896	N	0.02129	-0.67	0.44194	D	0.997018	B;B	0.20887	0.049;0.009	B;B	0.26202	0.067;0.02	T	0.58092	-0.7697	10	0.13470	T	0.59	.	9.8001	0.40759	0.0:0.0895:0.0:0.9105	.	180;176	A6NNS2;B9EJH3	DRS7C_HUMAN;.	V	180	ENSP00000327975:I180V	ENSP00000327975:I180V	I	-	1	0	DHRS7C	9621271	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	2.422000	0.44696	0.862000	0.35528	0.533000	0.62120	ATC		0.413	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		7	47	0	0	0	1	0	7	47				
PCDH10	57575	broad.mit.edu	37	4	134071473	134071473	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:134071473A>G	ENST00000264360.5	+	1	1004	c.178A>G	c.(178-180)Agg>Ggg	p.R60G	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	60	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCCCAACTCAAGGACCCCTTA	0.527																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(178-180)Agg>Ggg		protocadherin 10							93.0	96.0	95.0					4																	134071473		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071473A>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.178A>G	4.37:g.134071473A>G	ENSP00000264360:p.Arg60Gly						p.R60G	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1004	+			60			Cadherin 1.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.178A>G	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	A	7.568	0.666147	0.14710	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.28454	1.61	4.77	1.49	0.22878	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.41605	D	0.000843	T	0.40932	0.1137	L	0.33189	0.99	0.49798	D	0.999822	D;B	0.71674	0.998;0.005	D;B	0.81914	0.995;0.021	T	0.10520	-1.0626	10	0.33940	T	0.23	.	14.2015	0.65707	0.543:0.457:0.0:0.0	.	60;60	Q9P2E7;Q96SF0	PCD10_HUMAN;.	G	60	ENSP00000264360:R60G	ENSP00000264360:R60G	R	+	1	2	PCDH10	134290923	0.429000	0.25530	1.000000	0.80357	0.986000	0.74619	0.522000	0.22909	0.492000	0.27815	0.454000	0.30748	AGG		0.527	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		5	168	0	0	0	1	0	5	168				
CNOT3	4849	broad.mit.edu	37	19	54657010	54657010	+	Intron	SNP	C	C	T	rs367687183	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54657010C>T	ENST00000406403.1	+	15	3640				CNOT3_ENST00000221232.5_Intron|CNOT3_ENST00000496327.1_Intron|CNOT3_ENST00000358389.3_Silent_p.R529R			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGCTCACCCGCGGCCCCTCCC	0.652													C|||	3	0.000599042	0.0	0.0	5008	,	,		12291	0.0		0.0	False		,,,				2504	0.0031					ENST00000358389.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(1585-1587)cgC>cgT		CCR4-NOT transcription complex, subunit 3		C		0,1752		0,0,876	24.0	25.0	25.0			-3.4	0.0	19		25	1,3981		0,1,1990	no	intron	CNOT3	NM_014516.3		0,1,2866	TT,TC,CC		0.0251,0.0,0.0174			54657010	1,5733	876	1991	2867	SO:0001627	intron_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54657010C>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.2037+274C>T	19.37:g.54657010C>T						CNOT3_ENST00000496327.1_Intron|CNOT3_ENST00000406403.1_Intron|CNOT3_ENST00000221232.5_Intron	p.R529R			O75175	CNOT3_HUMAN			17	2441	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		336			Pro-rich.		Q9NZN7|Q9UF76	Silent	SNP	ENST00000406403.1	37	c.1587C>T	CCDS12880.1																																																																																				0.652	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		17	48	0	0	0	1	0	17	48				
ABCA3	21	broad.mit.edu	37	16	2347421	2347421	+	Silent	SNP	G	G	A	rs200855390		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2347421G>A	ENST00000301732.5	-	17	2872	c.2172C>T	c.(2170-2172)gaC>gaT	p.D724D	ABCA3_ENST00000382381.3_Silent_p.D666D	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	724	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GGTCAGCCTCGTCCATGAAGT	0.617																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(2170-2172)gaC>gaT		ATP-binding cassette, sub-family A (ABC1), member 3		G		0,4396		0,0,2198	169.0	123.0	139.0		2172	-10.8	0.2	16		139	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ABCA3	NM_001089.2		0,2,6496	AA,AG,GG		0.0233,0.0,0.0154		724/1705	2347421	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2347421G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2172C>T	16.37:g.2347421G>A						ABCA3_ENST00000382381.3_Silent_p.D666D	p.D724D	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			17	2872	-		Ovarian(90;0.17)	724			ABC transporter 1.		B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.2172C>T	CCDS10466.1																																																																																				0.617	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		42	157	0	0	0	1	0	42	157				
TIGD7	91151	broad.mit.edu	37	16	3350059	3350059	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3350059A>T	ENST00000396862.1	-	2	2384	c.556T>A	c.(556-558)Tca>Aca	p.S186T	TIGD7_ENST00000574598.1_5'Flank|TIGD7_ENST00000268674.2_Missense_Mutation_p.S186T	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	186	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						tctggcattgacttccaaaag	0.403																																						ENST00000396862.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(556-558)Tca>Aca		tigger transposable element derived 7							150.0	149.0	150.0					16																	3350059		2197	4300	6497	SO:0001583	missense	91151				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:3350059A>T	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.556T>A	16.37:g.3350059A>T	ENSP00000380071:p.Ser186Thr					TIGD7_ENST00000268674.2_Missense_Mutation_p.S186T	p.S186T	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN			2	2384	-			186			DDE.		Q9BXZ0	Missense_Mutation	SNP	ENST00000396862.1	37	c.556T>A	CCDS10500.1	.	.	.	.	.	.	.	.	.	.	A	8.719	0.913801	0.17907	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.41065	1.01;1.01	5.22	4.06	0.47325	.	0.271737	0.19349	U	0.116448	T	0.44623	0.1302	L	0.43152	1.355	0.24415	N	0.994645	D	0.59767	0.986	P	0.59595	0.86	T	0.22556	-1.0213	10	0.10902	T	0.67	.	8.4471	0.32849	0.8025:0.1975:0.0:0.0	.	186	Q6NT04	TIGD7_HUMAN	T	186	ENSP00000380071:S186T;ENSP00000268674:S186T	ENSP00000268674:S186T	S	-	1	0	TIGD7	3290060	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.218000	0.42889	1.977000	0.57605	0.533000	0.62120	TCA		0.403	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251465.1	NM_033208		62	156	0	0	0	1	0	62	156				
PDZRN3	23024	broad.mit.edu	37	3	73450159	73450159	+	Splice_Site	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:73450159G>A	ENST00000263666.4	-	5	1282	c.1168C>T	c.(1168-1170)Cat>Tat	p.H390Y	PDZRN3_ENST00000462146.2_Splice_Site_p.H47Y|PDZRN3_ENST00000535920.1_Splice_Site_p.H112Y|PDZRN3_ENST00000479530.1_Splice_Site_p.H107Y|PDZRN3_ENST00000466780.1_Splice_Site_p.H47Y|PDZRN3_ENST00000466348.1_5'UTR	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	390					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCTGAGGGATGCCTGAAAAGA	0.478																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.e5-1		PDZ domain containing ring finger 3							161.0	154.0	156.0					3																	73450159		2203	4300	6503	SO:0001630	splice_region_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73450159G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1167-1C>T	3.37:g.73450159G>A						PDZRN3_ENST00000462146.2_Splice_Site_p.H47_splice|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Splice_Site_p.H112_splice|PDZRN3_ENST00000479530.1_Splice_Site_p.H107_splice|PDZRN3_ENST00000466780.1_Splice_Site_p.H47_splice	p.H390_splice	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	5	1282	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	390					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Splice_Site	SNP	ENST00000263666.4	37	c.1166_splice	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480278	0.26598	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	T;T;T;T;T;T	0.10288	2.89;3.54;3.45;3.45;3.57;3.54	5.38	5.38	0.77491	.	0.152885	0.64402	D	0.000016	T	0.19485	0.0468	M	0.68593	2.085	0.80722	D	1	B;B;D;D	0.61080	0.182;0.179;0.972;0.989	B;B;P;P	0.51016	0.139;0.04;0.616;0.656	T	0.07927	-1.0747	10	0.02654	T	1	.	18.7567	0.91835	0.0:0.0:1.0:0.0	.	112;107;107;390	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	Y	390;112;47;47;107;390;88	ENSP00000263666:H390Y;ENSP00000442026:H112Y;ENSP00000418168:H47Y;ENSP00000418484:H47Y;ENSP00000418624:H107Y;ENSP00000419250:H88Y	ENSP00000263666:H390Y	H	-	1	0	PDZRN3	73532849	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	5.277000	0.65586	2.520000	0.84964	0.555000	0.69702	CAT		0.478	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363	Missense_Mutation	7	94	0	0	0	1	0	7	94				
PDE4D	5144	broad.mit.edu	37	5	59064256	59064256	+	Intron	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:59064256T>C	ENST00000340635.6	-	1	631				PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.E27G|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000507116.1_Missense_Mutation_p.E27G	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific						adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CACAAGGTCTTCGTTCAGCCA	0.493																																						ENST00000507116.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(79-81)gAa>gGa		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						210.0	197.0	201.0					5																	59064256		876	1991	2867	SO:0001627	intron_variant	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:59064256T>C		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.455+124738A>G	5.37:g.59064256T>C						PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.E27G	p.E27G	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	1	215	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	0					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.80A>G	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.456899	0.84317	.	.	ENSG00000113448	ENST00000507116;ENST00000502575	T;D	0.83837	-0.51;-1.77	5.36	5.36	0.76844	.	.	.	.	.	D	0.90950	0.7155	.	.	.	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.72982	0.969;0.979	D	0.91985	0.5598	8	0.66056	D	0.02	.	15.2009	0.73136	0.0:0.0:0.0:1.0	.	27;27	Q08499-12;Q08499-6	.;.	G	27	ENSP00000424852:E27G;ENSP00000425917:E27G	ENSP00000308485:E27G	E	-	2	0	PDE4D	59100013	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.465000	0.80898	2.246000	0.74042	0.533000	0.62120	GAA		0.493	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			47	117	0	0	0	1	0	47	117				
MIPOL1	145282	broad.mit.edu	37	14	37777705	37777705	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:37777705G>A	ENST00000327441.7	+	10	1275	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	MIPOL1_ENST00000396294.2_Missense_Mutation_p.R270Q|MIPOL1_ENST00000545536.1_Missense_Mutation_p.R239Q|MIPOL1_ENST00000556451.1_Missense_Mutation_p.R239Q|MIPOL1_ENST00000536774.1_Missense_Mutation_p.R89Q|MIPOL1_ENST00000539062.2_Missense_Mutation_p.R239Q|MIPOL1_ENST00000537471.1_Missense_Mutation_p.R270Q	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	270						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		ATAGAAGAACGGGATGCTGCC	0.348																																						ENST00000327441.7																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(808-810)cGg>cAg		mirror-image polydactyly 1							113.0	112.0	112.0					14																	37777705		2203	4300	6503	SO:0001583	missense	145282							g.chr14:37777705G>A	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.809G>A	14.37:g.37777705G>A	ENSP00000333539:p.Arg270Gln					MIPOL1_ENST00000539062.2_Missense_Mutation_p.R239Q|MIPOL1_ENST00000556451.1_Missense_Mutation_p.R239Q|MIPOL1_ENST00000537471.1_Missense_Mutation_p.R270Q|MIPOL1_ENST00000536774.1_Missense_Mutation_p.R89Q|MIPOL1_ENST00000396294.2_Missense_Mutation_p.R270Q|MIPOL1_ENST00000545536.1_Missense_Mutation_p.R239Q	p.R270Q	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	10	1275	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		270					D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	ENST00000327441.7	37	c.809G>A	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958579	0.74016	.	.	ENSG00000151338	ENST00000327441;ENST00000536774;ENST00000539062;ENST00000556451;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.61980	0.08;0.1;0.06;0.08;0.08;0.06	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.79975	0.4539	M	0.75777	2.31	0.42555	D	0.993126	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.78468	-0.2192	10	0.40728	T	0.16	-7.8671	19.7072	0.96079	0.0:0.0:1.0:0.0	.	270;239	Q8TD10;Q49AL5	MIPO1_HUMAN;.	Q	270;89;239;239;270;270;239	ENSP00000333539:R270Q;ENSP00000438319:R239Q;ENSP00000450479:R239Q;ENSP00000379589:R270Q;ENSP00000444254:R270Q;ENSP00000442529:R239Q	ENSP00000333539:R270Q	R	+	2	0	MIPOL1	36847456	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.149000	0.77396	2.662000	0.90505	0.591000	0.81541	CGG		0.348	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		33	90	0	0	0	1	0	33	90				
PAX1	5075	broad.mit.edu	37	20	21687091	21687091	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:21687091A>T	ENST00000398485.2	+	2	356	c.302A>T	c.(301-303)gAg>gTg	p.E101V	PAX1_ENST00000444366.2_Missense_Mutation_p.E77V|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	101	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						ACGTATGGCGAGGTGAACCAG	0.672																																						ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(301-303)gAg>gTg		paired box 1							36.0	41.0	39.0					20																	21687091		2203	4299	6502	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687091A>T		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.302A>T	20.37:g.21687091A>T	ENSP00000381499:p.Glu101Val					PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.E77V	p.E101V	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			2	356	+			101			Paired.		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.302A>T	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	A	17.59	3.428348	0.62844	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.99382	-5.8;-5.8	5.14	4.05	0.47172	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99105	0.9692	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.997	D	0.99218	1.0878	10	0.59425	D	0.04	.	10.4521	0.44528	0.9224:0.0:0.0776:0.0	.	77;7;101	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	V	101;77	ENSP00000381499:E101V;ENSP00000410355:E77V	ENSP00000381499:E101V	E	+	2	0	PAX1	21635091	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	7.325000	0.79124	0.803000	0.34113	-0.250000	0.11733	GAG		0.672	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			17	75	0	0	0	1	0	17	75				
NR0B1	190	broad.mit.edu	37	X	30326381	30326381	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:30326381T>C	ENST00000378970.4	-	1	1334	c.1100A>G	c.(1099-1101)aAa>aGa	p.K367R	NR0B1_ENST00000378963.1_Missense_Mutation_p.K72R|NR0B1_ENST00000453287.1_Missense_Mutation_p.K367R	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	367	Ligand-binding. {ECO:0000250}.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	ACTCCAGCATTTGGAAAGAAA	0.607											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378970.4																			0				central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24						c.(1099-1101)aAa>aGa		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						75.0	68.0	70.0					X																	30326381		2202	4300	6502	SO:0001583	missense	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30326381T>C	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.1100A>G	X.37:g.30326381T>C	ENSP00000368253:p.Lys367Arg		OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	816	NR0B1_ENST00000453287.1_Missense_Mutation_p.K367R|NR0B1_ENST00000378963.1_Missense_Mutation_p.K72R	p.K367R	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN			1	1334	-			367			Ligand-binding (By similarity).		Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	c.1100A>G	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.021008	0.35606	.	.	ENSG00000169297	ENST00000378970;ENST00000378963;ENST00000453287	D;D;D	0.98914	-5.23;-1.89;-5.23	5.6	3.23	0.37069	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.178357	0.64402	N	0.000014	D	0.96156	0.8747	L	0.31476	0.935	0.53688	D	0.999976	B	0.33477	0.413	B	0.38616	0.277	D	0.92681	0.6158	10	0.46703	T	0.11	-15.8159	9.019	0.36188	0.0:0.1504:0.0:0.8496	.	367	P51843	NR0B1_HUMAN	R	367;72;367	ENSP00000368253:K367R;ENSP00000368246:K72R;ENSP00000396403:K367R	ENSP00000368246:K72R	K	-	2	0	NR0B1	30236302	0.999000	0.42202	0.867000	0.34043	0.587000	0.36485	2.055000	0.41345	0.277000	0.22141	0.486000	0.48141	AAA		0.607	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		8	63	0	0	0	1	0	8	63				
NUTM2A	728118	broad.mit.edu	37	10	88988124	88988124	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:88988124C>A	ENST00000381707.2	+	2	870	c.487C>A	c.(487-489)Ccg>Acg	p.P163T	NUTM2A_ENST00000381689.4_Missense_Mutation_p.P163T|NUTM2A-AS1_ENST00000451940.2_RNA	NM_001099338.1	NP_001092808.1	Q8IVF1	NTM2A_HUMAN	NUT family member 2A	163																	AGCACACGGGCCGCTCCTTGT	0.697																																						ENST00000381689.4																			0											c.(487-489)Ccg>Acg		NUT family member 2A							18.0	20.0	19.0					10																	88988124		1218	3119	4337	SO:0001583	missense	728118							g.chr10:88988124C>A		CCDS44452.1	10q23.2	2013-03-15	2013-03-14	2013-03-14	ENSG00000184923	ENSG00000184923			23438	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member A"""	FAM22A			Standard	NM_001099338		Approved		uc001kek.3	Q8IVF1	OTTHUMG00000018670	ENST00000381707.2:c.487C>A	10.37:g.88988124C>A	ENSP00000371126:p.Pro163Thr					NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381707.2_Missense_Mutation_p.P163T	p.P163T							2	818	+								A6NMX5|C9JDI1|Q5VZW1	Missense_Mutation	SNP	ENST00000381707.2	37	c.487C>A	CCDS44452.1	.	.	.	.	.	.	.	.	.	.	c	5.722	0.317691	0.10845	.	.	ENSG00000184923	ENST00000381689;ENST00000381707;ENST00000416901	T;T	0.25912	1.77;1.77	1.29	1.29	0.21616	Nuclear Testis  protein, N-terminal (1);	.	.	.	.	T	0.25865	0.0630	L	0.54323	1.7	0.09310	N	1	B	0.28470	0.213	B	0.35688	0.208	T	0.32241	-0.9914	9	0.56958	D	0.05	.	6.1361	0.20233	0.0:1.0:0.0:0.0	.	163	Q8IVF1	FA22A_HUMAN	T	163;163;90	ENSP00000371107:P163T;ENSP00000371126:P163T	ENSP00000371107:P163T	P	+	1	0	FAM22A	88978104	0.033000	0.19621	0.004000	0.12327	0.017000	0.09413	1.480000	0.35464	1.081000	0.41110	0.374000	0.22700	CCG		0.697	NUTM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049198.2	NM_001099338		19	70	1	0	1.50039e-11	1	1.55951e-11	19	70				
ASPG	374569	broad.mit.edu	37	14	104570983	104570983	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:104570983T>A	ENST00000551177.1	+	9	1053	c.961T>A	c.(961-963)Tca>Aca	p.S321T	ASPG_ENST00000546892.2_Missense_Mutation_p.S321T|ASPG_ENST00000455920.2_Missense_Mutation_p.S321T	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	321	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CGGCGTCATCTCAGGCTTCGA	0.682																																						ENST00000551177.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(961-963)Tca>Aca		asparaginase homolog (S. cerevisiae)							21.0	26.0	24.0					14																	104570983		2023	4161	6184	SO:0001583	missense	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104570983T>A		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.961T>A	14.37:g.104570983T>A	ENSP00000450040:p.Ser321Thr					ASPG_ENST00000455920.2_Missense_Mutation_p.S321T|ASPG_ENST00000546892.2_Missense_Mutation_p.S321T	p.S321T	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN			9	1053	+			321			Asparaginase.		B9EGQ2|Q8IV80	Missense_Mutation	SNP	ENST00000551177.1	37	c.961T>A	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	T	10.16	1.273596	0.23221	.	.	ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920	T;T;T	0.25250	1.81;1.81;1.81	4.21	4.21	0.49690	.	0.215790	0.40469	N	0.001097	T	0.38480	0.1042	M	0.87617	2.895	0.27335	N	0.956657	P;P;P;P	0.46859	0.753;0.57;0.698;0.885	B;B;B;P	0.48089	0.381;0.19;0.161;0.566	T	0.34527	-0.9825	10	0.20519	T	0.43	-10.8944	9.6923	0.40136	0.0:0.0:0.0:1.0	.	321;321;321;349	G3V1Y8;Q86U10;Q86U10-3;E5RFC2	.;LPP60_HUMAN;.;.	T	321;349;321;321	ENSP00000450040:S321T;ENSP00000448911:S321T;ENSP00000389003:S321T	ENSP00000299234:S349T	S	+	1	0	ASPG	103640736	0.116000	0.22171	0.408000	0.26446	0.068000	0.16541	0.213000	0.17521	1.535000	0.49220	0.379000	0.24179	TCA		0.682	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		5	27	0	0	0	1	0	5	27				
YRDC	79693	broad.mit.edu	37	1	38272869	38272869	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:38272869T>C	ENST00000373044.2	-	2	412	c.408A>G	c.(406-408)gtA>gtG	p.V136V	C1orf122_ENST00000446260.2_5'Flank|C1orf122_ENST00000373042.4_5'Flank|C1orf122_ENST00000468084.1_5'Flank|C1orf122_ENST00000373043.1_5'UTR	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	136	YrdC-like. {ECO:0000255|PROSITE- ProRule:PRU00518}.				negative regulation of transport (GO:0051051)	membrane (GO:0016020)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)			lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCCCCTCAGGTACTCTCACAC	0.507																																						ENST00000373044.2																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.(406-408)gtA>gtG		yrdC N(6)-threonylcarbamoyltransferase domain containing							77.0	77.0	77.0					1																	38272869		2203	4300	6503	SO:0001819	synonymous_variant	79693				negative regulation of transport	membrane|mitochondrion		g.chr1:38272869T>C		CCDS30675.1	1p34.3	2013-09-12	2013-09-12		ENSG00000196449	ENSG00000196449			28905	protein-coding gene	gene with protein product	"""ischemia/reperfusion inducible protein"""	612276	"""yrdC domain containing (E.coli)"", ""yrdC domain containing (E. coli)"""			12730717	Standard	NM_024640		Approved	FLJ23476, IRIP, SUA5	uc001cca.1	Q86U90	OTTHUMG00000004318	ENST00000373044.2:c.408A>G	1.37:g.38272869T>C						C1orf122_ENST00000373043.1_5'UTR	p.V136V	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN			2	412	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	136			YrdC-like.		Q4W4X8|Q6NVW3|Q7L4E4|Q7Z2I4|Q9H5F8	Silent	SNP	ENST00000373044.2	37	c.408A>G	CCDS30675.1																																																																																				0.507	YRDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012470.1	NM_024640		29	59	0	0	0	1	0	29	59				
ZNF584	201514	broad.mit.edu	37	19	58928590	58928590	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:58928590T>C	ENST00000306910.4	+	4	1228	c.705T>C	c.(703-705)gtT>gtC	p.V235V	ZNF584_ENST00000593920.1_Silent_p.V190V|ZNF584_ENST00000599238.1_3'UTR|CTD-2619J13.16_ENST00000596296.1_lincRNA	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	235					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(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		ACCAGAAGGTTCACACAGGCA	0.458																																						ENST00000306910.4																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(703-705)gtT>gtC		zinc finger protein 584							72.0	69.0	70.0					19																	58928590		2203	4300	6503	SO:0001819	synonymous_variant	201514				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58928590T>C	AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"""Zinc fingers, C2H2-type"", ""-"""	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.705T>C	19.37:g.58928590T>C						ZNF584_ENST00000593920.1_Silent_p.V190V|ZNF584_ENST00000599238.1_3'UTR	p.V235V	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)	4	1228	+		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	235					A8K203	Silent	SNP	ENST00000306910.4	37	c.705T>C	CCDS12979.1																																																																																				0.458	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1	NM_173548		18	63	0	0	0	1	0	18	63				
AADAC	13	broad.mit.edu	37	3	151531957	151531957	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:151531957A>G	ENST00000232892.7	+	1	133	c.7A>G	c.(7-9)Aga>Gga	p.R3G	AADAC_ENST00000488869.1_Missense_Mutation_p.R3G|RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	3				R -> M (in Ref. 6; AA sequence). {ECO:0000305}.	positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CACCATGGGAAGAAAATCGCT	0.428																																					Ovarian(30;839 841 2699 32801 46334)	ENST00000232892.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19						c.(7-9)Aga>Gga		arylacetamide deacetylase							156.0	153.0	154.0					3																	151531957		2203	4300	6503	SO:0001583	missense	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151531957A>G	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.7A>G	3.37:g.151531957A>G	ENSP00000232892:p.Arg3Gly					RP11-454C18.2_ENST00000483843.2_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.R3G|RP11-454C18.2_ENST00000475855.1_RNA	p.R3G	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		1	133	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	3	R -> M (in Ref. 6; AA sequence).				A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	c.7A>G	CCDS33877.1	.	.	.	.	.	.	.	.	.	.	A	9.941	1.217498	0.22373	.	.	ENSG00000114771	ENST00000232892;ENST00000488869	T;T	0.11821	3.64;2.74	5.04	3.81	0.43845	.	0.696139	0.15298	N	0.269805	T	0.11239	0.0274	L	0.35723	1.085	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15407	-1.0438	10	0.26408	T	0.33	-2.7993	10.7161	0.46013	0.8416:0.1584:0.0:0.0	.	3	P22760	AAAD_HUMAN	G	3	ENSP00000232892:R3G;ENSP00000419620:R3G	ENSP00000232892:R3G	R	+	1	2	AADAC	153014647	0.867000	0.29959	0.311000	0.25182	0.076000	0.17211	1.454000	0.35178	2.009000	0.58944	0.533000	0.62120	AGA		0.428	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		43	106	0	0	0	1	0	43	106				
EPHA7	2045	broad.mit.edu	37	6	93979297	93979297	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:93979297A>G	ENST00000369303.4	-	7	1715	c.1531T>C	c.(1531-1533)Tat>Cat	p.Y511H		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	511	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		TGGAAAACATACACTGTTCCT	0.398																																						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.(1531-1533)Tat>Cat		EPH receptor A7							151.0	149.0	150.0					6																	93979297		2203	4299	6502	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93979297A>G	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.1531T>C	6.37:g.93979297A>G	ENSP00000358309:p.Tyr511His						p.Y511H	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	7	1715	-		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)	511			Fibronectin type-III 2.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.1531T>C	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.754479	0.89843	.	.	ENSG00000135333	ENST00000369303	D	0.89343	-2.5	5.99	5.99	0.97316	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97136	0.9064	H	0.99415	4.555	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.85130	0.986;0.994;0.997	D	0.99041	1.0824	10	0.87932	D	0	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	511;511;511	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	H	511	ENSP00000358309:Y511H	ENSP00000358309:Y511H	Y	-	1	0	EPHA7	94036018	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.291000	0.77112	0.533000	0.62120	TAT		0.398	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			7	134	0	0	0	1	0	7	134				
CPXM2	119587	broad.mit.edu	37	10	125528100	125528100	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:125528100G>A	ENST00000241305.3	-	9	1395	c.1241C>T	c.(1240-1242)aCg>aTg	p.T414M	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	414					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTGAATCCGCGTCTCCTCCAC	0.627																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1240-1242)aCg>aTg		carboxypeptidase X (M14 family), member 2							99.0	84.0	89.0					10																	125528100		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528100G>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1241C>T	10.37:g.125528100G>A	ENSP00000241305:p.Thr414Met					CPXM2_ENST00000368854.3_5'UTR	p.T414M	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1395	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	414					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.1241C>T	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367083	0.82463	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.13089	2.62	4.96	4.96	0.65561	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.45875	0.1364	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.52764	-0.8532	10	0.52906	T	0.07	-1.2123	18.4316	0.90627	0.0:0.0:1.0:0.0	.	414	Q8N436	CPXM2_HUMAN	M	414;247;414	ENSP00000241305:T414M	ENSP00000241305:T414M	T	-	2	0	CPXM2	125518090	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.610000	0.82949	2.565000	0.86533	0.655000	0.94253	ACG		0.627	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		34	111	0	0	0	1	0	34	111				
MYH13	8735	broad.mit.edu	37	17	10216005	10216005	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:10216005C>T	ENST00000418404.3	-	30	4414	c.4251G>A	c.(4249-4251)tcG>tcA	p.S1417S	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Silent_p.S1417S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1417					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTTCTCCAACGATGCGCACT	0.552																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4249-4251)tcG>tcA		myosin, heavy chain 13, skeletal muscle							50.0	55.0	54.0					17																	10216005		2196	4299	6495	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10216005C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4251G>A	17.37:g.10216005C>T						MYH13_ENST00000570743.1_Silent_p.S1417S|MYH13_ENST00000252172.4_Silent_p.S1417S	p.S1417S			Q9UKX3	MYH13_HUMAN			30	4414	-			1417					O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.4251G>A	CCDS45613.1																																																																																				0.552	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		5	24	0	0	0	1	0	5	24				
CLIP2	7461	broad.mit.edu	37	7	73811420	73811420	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:73811420C>T	ENST00000395060.1	+	13	2737	c.2737C>T	c.(2737-2739)Cgg>Tgg	p.R913W	CLIP2_ENST00000361545.5_Missense_Mutation_p.R878W|CLIP2_ENST00000223398.6_Missense_Mutation_p.R913W			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	913						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAACGAACTGCGGGTGTTGCT	0.617																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(2737-2739)Cgg>Tgg		CAP-GLY domain containing linker protein 2							87.0	80.0	82.0					7																	73811420		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73811420C>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2737C>T	7.37:g.73811420C>T	ENSP00000378500:p.Arg913Trp					CLIP2_ENST00000361545.5_Missense_Mutation_p.R878W|CLIP2_ENST00000395060.1_Missense_Mutation_p.R913W	p.R913W	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			14	3064	+			913					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.2737C>T	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074120	0.36566	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	D;D;D	0.84070	-1.8;-1.8;-1.8	4.54	3.54	0.40534	.	0.000000	0.85682	D	0.000000	D	0.83700	0.5311	N	0.24115	0.695	0.43036	D	0.994618	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.84072	0.0380	10	0.72032	D	0.01	-17.1484	10.9049	0.47073	0.5693:0.4307:0.0:0.0	.	878;913	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	W	913;913;878;913	ENSP00000223398:R913W;ENSP00000355151:R878W;ENSP00000378500:R913W	ENSP00000223398:R913W	R	+	1	2	CLIP2	73449356	1.000000	0.71417	0.708000	0.30435	0.142000	0.21351	0.806000	0.27126	0.680000	0.31366	0.561000	0.74099	CGG		0.617	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		30	64	0	0	0	1	0	30	64				
ATN1	1822	broad.mit.edu	37	12	7046509	7046509	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:7046509A>G	ENST00000356654.4	+	5	2316	c.2079A>G	c.(2077-2079)ggA>ggG	p.G693G	ATN1_ENST00000396684.2_Silent_p.G693G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	693					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCACCGTGGGACCTGGGCCCC	0.736																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(2077-2079)ggA>ggG		atrophin 1							2.0	3.0	3.0					12																	7046509		1591	3338	4929	SO:0001819	synonymous_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7046509A>G	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2079A>G	12.37:g.7046509A>G						ATN1_ENST00000396684.2_Silent_p.G693G	p.G693G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	2316	+			693					Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	c.2079A>G	CCDS31734.1																																																																																				0.736	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		5	9	0	0	0	1	0	5	9				
CDH6	1004	broad.mit.edu	37	5	31323233	31323233	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:31323233C>T	ENST00000265071.2	+	12	2456	c.2191C>T	c.(2191-2193)Cca>Tca	p.P731S		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	731					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACTGCCCCGCCATACGACTC	0.547																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2191-2193)Cca>Tca		cadherin 6, type 2, K-cadherin (fetal kidney)							42.0	43.0	42.0					5																	31323233		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31323233C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2191C>T	5.37:g.31323233C>T	ENSP00000265071:p.Pro731Ser						p.P731S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			12	2456	+			731					A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.2191C>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023403	0.93462	.	.	ENSG00000113361	ENST00000265071	D	0.81659	-1.52	5.66	5.66	0.87406	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.92381	0.7582	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93203	0.6593	10	0.87932	D	0	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	731	P55285	CADH6_HUMAN	S	731	ENSP00000265071:P731S	ENSP00000265071:P731S	P	+	1	0	CDH6	31358990	1.000000	0.71417	0.995000	0.50966	0.883000	0.51084	7.776000	0.85560	2.832000	0.97577	0.655000	0.94253	CCA		0.547	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		15	49	0	0	0	1	0	15	49				
EMR2	30817	broad.mit.edu	37	19	14875330	14875330	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:14875330C>T	ENST00000315576.3	-	11	1450	c.999G>A	c.(997-999)ctG>ctA	p.L333L	EMR2_ENST00000601345.1_Silent_p.L333L|EMR2_ENST00000353876.1_Silent_p.L240L|EMR2_ENST00000353005.1_Silent_p.L191L|EMR2_ENST00000595839.1_Silent_p.L191L|EMR2_ENST00000392964.3_Silent_p.L72L|EMR2_ENST00000594294.1_Silent_p.L284L|EMR2_ENST00000594076.1_Silent_p.L240L|EMR2_ENST00000392967.2_Silent_p.L333L|EMR2_ENST00000346057.1_Silent_p.L284L|EMR2_ENST00000392965.3_Silent_p.L333L|EMR2_ENST00000596991.2_Silent_p.L333L	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	333					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GGCCATCCAGCAGGTGACTGG	0.602																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(997-999)ctG>ctA		egf-like module containing, mucin-like, hormone receptor-like 2							61.0	55.0	57.0					19																	14875330		2203	4299	6502	SO:0001819	synonymous_variant	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14875330C>T	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.999G>A	19.37:g.14875330C>T						EMR2_ENST00000353876.1_Silent_p.L240L|EMR2_ENST00000392964.3_Silent_p.L72L|EMR2_ENST00000601345.1_Silent_p.L333L|EMR2_ENST00000392967.2_Silent_p.L333L|EMR2_ENST00000346057.1_Silent_p.L284L|EMR2_ENST00000392965.3_Silent_p.L333L|EMR2_ENST00000595839.1_Silent_p.L191L|EMR2_ENST00000353005.1_Silent_p.L191L|EMR2_ENST00000596991.2_Silent_p.L333L|EMR2_ENST00000594294.1_Silent_p.L284L|EMR2_ENST00000594076.1_Silent_p.L240L	p.L333L	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			11	1450	-			333					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Silent	SNP	ENST00000315576.3	37	c.999G>A	CCDS32935.1																																																																																				0.602	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			13	60	0	0	0	1	0	13	60				
GPR25	2848	broad.mit.edu	37	1	200842781	200842781	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:200842781C>T	ENST00000304244.2	+	1	699	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	206	Poly-Leu.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CAGCTTGCTGCTGCTGCTGCT	0.726																																						ENST00000304244.2																			0				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(616-618)Ctg>Ttg		G protein-coupled receptor 25							14.0	15.0	15.0					1																	200842781		2157	4238	6395	SO:0001819	synonymous_variant	2848					integral to plasma membrane		g.chr1:200842781C>T	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.616C>T	1.37:g.200842781C>T							p.L206L	NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN			1	699	+			206			Poly-Leu.		A0AVJ5	Silent	SNP	ENST00000304244.2	37	c.616C>T	CCDS1405.1																																																																																				0.726	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		4	33	0	0	0	1	0	4	33				
ACD	65057	broad.mit.edu	37	16	67691737	67691737	+	Missense_Mutation	SNP	C	C	T	rs374742891		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67691737C>T	ENST00000393919.4	-	11	1748	c.1484G>A	c.(1483-1485)cGt>cAt	p.R495H	ACD_ENST00000219251.8_Missense_Mutation_p.R492H			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	495					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AGAACCATCACGATGCCTCTT	0.582																																						ENST00000219251.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1474-1476)cGt>cAt		adrenocortical dysplasia homolog (mouse)		C	HIS/ARG,,HIS/ARG	0,4396		0,0,2198	87.0	80.0	83.0		1484,,1475	-0.8	1.0	16		83	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense	ACD	NM_001082486.1,NM_001082487.1,NM_022914.2	29,,29	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,,probably-damaging	495/545,,492/542	67691737	1,12995	2198	4300	6498	SO:0001583	missense	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67691737C>T	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.1484G>A	16.37:g.67691737C>T	ENSP00000377496:p.Arg495His					ACD_ENST00000393919.4_Missense_Mutation_p.R495H	p.R492H	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	11	1806	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	495					Q562H5|Q9H8F9	Missense_Mutation	SNP	ENST00000393919.4	37	c.1475G>A	CCDS42181.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136605	0.37728	0.0	1.16E-4	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.34275	1.37;1.37	4.76	-0.821	0.10822	.	0.755072	0.12095	N	0.500099	T	0.22360	0.0539	L	0.33485	1.01	0.29440	N	0.859233	B;B	0.15719	0.008;0.014	B;B	0.14578	0.005;0.011	T	0.22277	-1.0221	10	0.62326	D	0.03	-3.1938	3.3086	0.07009	0.1833:0.4038:0.0:0.4128	.	495;492	Q96AP0;Q96AP0-2	ACD_HUMAN;.	H	492;495	ENSP00000219251:R492H;ENSP00000377496:R495H	ENSP00000219251:R492H	R	-	2	0	ACD	66249238	0.024000	0.19004	0.999000	0.59377	0.926000	0.56050	-0.657000	0.05335	0.190000	0.20209	-0.444000	0.05651	CGT		0.582	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		24	68	0	0	0	1	0	24	68				
TP53	7157	broad.mit.edu	37	17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:7577566T>C	ENST00000269305.4	-	7	904	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D	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	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (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.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(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)	CAGGAACTGTTACACATGTAG	0.572		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"""		95	Substitution - Missense(40)|Insertion - Frameshift(18)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(5)|Substitution - Nonsense(1)|Complex - frameshift(1)|Insertion - In frame(1)	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1)	ovary(14)|oesophagus(11)|haematopoietic_and_lymphoid_tissue(10)|biliary_tract(7)|central_nervous_system(7)|large_intestine(7)|lung(7)|breast(6)|upper_aerodigestive_tract(5)|endometrium(5)|bone(5)|urinary_tract(4)|stomach(3)|prostate(2)|liver(1)|pancreas(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.(715-717)Aac>Gac	Other conserved DNA damage response genes	tumor protein p53							133.0	104.0	114.0					17																	7577566		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.chr17:7577566T>C	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.715A>G	17.37:g.7577566T>C	ENSP00000269305:p.Asn239Asp	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_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000269305.4_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D	p.N239D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	847	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	239		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|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.715A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564934	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99748	-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62	4.09	4.09	0.47781	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	0.99648	0.9870	M	0.87381	2.88	0.58432	D	0.99999	D;D;D;D;D;D	0.89917	0.999;0.972;0.999;0.999;0.999;1.0	D;P;D;D;D;D	0.91635	0.993;0.803;0.998;0.993;0.996;0.999	D	0.97636	1.0145	10	0.87932	D	0	-35.9081	11.6823	0.51466	0.0:0.0:0.0:1.0	.	239;239;146;239;239;239	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	239;239;239;239;239;239;228;146;107;146	ENSP00000410739:N239D;ENSP00000352610:N239D;ENSP00000269305:N239D;ENSP00000398846:N239D;ENSP00000391127:N239D;ENSP00000391478:N239D;ENSP00000425104:N107D;ENSP00000423862:N146D	ENSP00000269305:N239D	N	-	1	0	TP53	7518291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	AAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	62	0	0	0	1	0	16	62				
SGIP1	84251	broad.mit.edu	37	1	67205086	67205086	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:67205086C>T	ENST00000371037.4	+	22	2177	c.2100C>T	c.(2098-2100)agC>agT	p.S700S	SGIP1_ENST00000435165.2_Silent_p.S205S|SGIP1_ENST00000371035.3_Silent_p.S490S|SGIP1_ENST00000237247.6_Silent_p.S731S|SGIP1_ENST00000371036.3_Silent_p.S502S|SGIP1_ENST00000371039.1_Silent_p.S503S	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	700	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Necessary and sufficient to mediate interaction with CANX. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGCCTTCAAGCACTGACCTGC	0.502																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(2098-2100)agC>agT		SH3-domain GRB2-like (endophilin) interacting protein 1							88.0	75.0	80.0					1																	67205086		2203	4300	6503	SO:0001819	synonymous_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67205086C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.2100C>T	1.37:g.67205086C>T						SGIP1_ENST00000237247.6_Silent_p.S731S|SGIP1_ENST00000371035.3_Silent_p.S490S|SGIP1_ENST00000371036.3_Silent_p.S502S|SGIP1_ENST00000435165.2_Silent_p.S205S|SGIP1_ENST00000371039.1_Silent_p.S503S	p.S700S	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			22	2177	+			700					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	c.2100C>T	CCDS30744.1																																																																																				0.502	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		10	37	0	0	0	1	0	10	37				
INPP5J	27124	broad.mit.edu	37	22	31522690	31522690	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:31522690C>T	ENST00000331075.5	+	4	1526	c.1477C>T	c.(1477-1479)Ccc>Tcc	p.P493S	INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000404390.3_Missense_Mutation_p.P125S|INPP5J_ENST00000412277.2_Missense_Mutation_p.P426S|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000405300.1_Missense_Mutation_p.P126S|INPP5J_ENST00000400294.2_Missense_Mutation_p.P126S	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	493	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						TGCGCTAGGGCCCTTCAACTT	0.607																																						ENST00000331075.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						c.(1477-1479)Ccc>Tcc		inositol polyphosphate-5-phosphatase J							147.0	151.0	150.0					22																	31522690		2089	4226	6315	SO:0001583	missense	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31522690C>T	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1477C>T	22.37:g.31522690C>T	ENSP00000333262:p.Pro493Ser					INPP5J_ENST00000404390.3_Missense_Mutation_p.P125S|INPP5J_ENST00000405300.1_Missense_Mutation_p.P126S|INPP5J_ENST00000412277.2_Missense_Mutation_p.P426S|INPP5J_ENST00000400294.2_Missense_Mutation_p.P126S	p.P493S			Q15735	PI5PA_HUMAN			4	1526	+			493			Catalytic (Potential).		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	37	c.1477C>T		.	.	.	.	.	.	.	.	.	.	C	17.88	3.497516	0.64186	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000420017;ENST00000400294;ENST00000405300;ENST00000404390	T;T;D;T;T;T	0.94828	-1.41;-1.41;-3.53;-1.41;-1.41;-1.41	4.28	4.28	0.50868	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.96262	0.8781	L	0.55103	1.725	0.58432	D	0.999999	D;B	0.89917	1.0;0.198	D;B	0.79784	0.993;0.171	D	0.96612	0.9453	10	0.59425	D	0.04	.	17.6194	0.88076	0.0:1.0:0.0:0.0	.	493;125	Q15735;Q15735-3	PI5PA_HUMAN;.	S	493;426;58;126;126;125	ENSP00000333262:P493S;ENSP00000392924:P426S;ENSP00000406570:P58S;ENSP00000383150:P126S;ENSP00000384596:P126S;ENSP00000384534:P125S	ENSP00000333262:P493S	P	+	1	0	INPP5J	29852690	1.000000	0.71417	0.980000	0.43619	0.295000	0.27426	7.304000	0.78882	2.329000	0.79093	0.561000	0.74099	CCC		0.607	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		57	216	0	0	0	1	0	57	216				
TASP1	55617	broad.mit.edu	37	20	13550198	13550198	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:13550198A>G	ENST00000337743.4	-	7	644	c.524T>C	c.(523-525)gTa>gCa	p.V175A	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	175					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						TCCATGATCTACTGCCCATCT	0.318																																						ENST00000337743.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						c.(523-525)gTa>gCa		taspase, threonine aspartase, 1							98.0	100.0	99.0					20																	13550198		2203	4300	6503	SO:0001583	missense	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13550198A>G	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.524T>C	20.37:g.13550198A>G	ENSP00000338624:p.Val175Ala					TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron	p.V175A	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN			7	644	-			175					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	37	c.524T>C	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	A	9.921	1.212200	0.22289	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.86769	-2.17;-2.17	5.88	5.88	0.94601	.	0.170668	0.51477	D	0.000082	T	0.75102	0.3804	N	0.11284	0.12	0.80722	D	1	B;B	0.17852	0.024;0.009	B;B	0.20384	0.029;0.017	T	0.70757	-0.4785	10	0.07990	T	0.79	-8.1631	15.958	0.79902	1.0:0.0:0.0:0.0	.	175;152	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	A	152;175;152	ENSP00000338624:V175A;ENSP00000400580:V152A	ENSP00000338624:V175A	V	-	2	0	TASP1	13498198	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.829000	0.62737	2.243000	0.73865	0.528000	0.53228	GTA		0.318	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714		14	38	0	0	0	1	0	14	38				
SCGB2B2	284402	broad.mit.edu	37	19	35085174	35085174	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:35085174T>C	ENST00000601241.1	-	3	2252	c.152A>G	c.(151-153)aAc>aGc	p.N51S	SCGB2B2_ENST00000379204.2_Missense_Mutation_p.N51S|SCGB2B2_ENST00000595326.1_Intron			Q4G0G5	SC2B2_HUMAN	secretoglobin, family 2B, member 2	51						extracellular region (GO:0005576)											GGGACTGGGGTTGTAACGAGC	0.493																																						ENST00000601241.1																			0											c.(151-153)aAc>aGc		secretoglobin, family 2B, member 2							122.0	107.0	112.0					19																	35085174		2203	4300	6503	SO:0001583	missense	284402					extracellular region	binding	g.chr19:35085174T>C	AK093495	CCDS32989.1	19q13.12	2011-12-14	2011-12-14	2011-12-14	ENSG00000205209	ENSG00000205209		"""Secretoglobins"""	27616	protein-coding gene	gene with protein product		615063	"""secretoglobin-like"""	SCGBL		22155607	Standard	NM_001025591		Approved	SCGB4A2	uc002nvn.3	Q4G0G5		ENST00000601241.1:c.152A>G	19.37:g.35085174T>C	ENSP00000469876:p.Asn51Ser					SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Missense_Mutation_p.N51S	p.N51S			Q4G0G5	SCGBL_HUMAN			3	2252	-			51						Missense_Mutation	SNP	ENST00000601241.1	37	c.152A>G	CCDS32989.1	.	.	.	.	.	.	.	.	.	.	T	4.950	0.176502	0.09443	.	.	ENSG00000205209	ENST00000379204	T	0.14640	2.49	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.20495	0.0493	.	.	.	0.09310	N	1	P	0.38767	0.646	P	0.49752	0.621	T	0.23297	-1.0192	7	0.87932	D	0	.	.	.	.	.	51	Q4G0G5	SCGBL_HUMAN	S	51	ENSP00000368502:N51S	ENSP00000368502:N51S	N	-	2	0	SCGBL	39777014	0.039000	0.19947	0.117000	0.21633	0.118000	0.20060	0.147000	0.16202	0.115000	0.18071	0.113000	0.15668	AAC		0.493	SCGB2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461457.2	NM_001025591		37	111	0	0	0	1	0	37	111				
ITSN2	50618	broad.mit.edu	37	2	24428137	24428137	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:24428137G>A	ENST00000355123.4	-	38	5151	c.4708C>T	c.(4708-4710)Cgc>Tgc	p.R1570C	ITSN2_ENST00000361999.3_Missense_Mutation_p.R1543C	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1570	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCATCAGGCGCCCAATGCCT	0.463																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(4708-4710)Cgc>Tgc		intersectin 2							79.0	86.0	84.0					2																	24428137		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24428137G>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4708C>T	2.37:g.24428137G>A	ENSP00000347244:p.Arg1570Cys					ITSN2_ENST00000361999.3_Missense_Mutation_p.R1543C	p.R1570C	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			38	5151	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1570			C2.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.4708C>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	16.62	3.175144	0.57692	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868	T;T;T	0.68331	-0.32;-0.32;-0.32	4.57	4.57	0.56435	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.37857	U	0.001919	T	0.81356	0.4805	M	0.70787	2.145	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84237	0.0470	10	0.87932	D	0	.	17.7658	0.88477	0.0:0.0:1.0:0.0	.	1543;1570	Q9NZM3-2;Q9NZM3	.;ITSN2_HUMAN	C	1543;1570;1543	ENSP00000354561:R1543C;ENSP00000347244:R1570C;ENSP00000370250:R1543C	ENSP00000347244:R1570C	R	-	1	0	ITSN2	24281641	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.184000	0.42575	2.270000	0.75569	0.585000	0.79938	CGC		0.463	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		30	70	0	0	0	1	0	30	70				
VPS13D	55187	broad.mit.edu	37	1	12460258	12460258	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:12460258T>C	ENST00000358136.3	+	61	11785	c.11655T>C	c.(11653-11655)ggT>ggC	p.G3885G	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.G3860G	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCTCATTGGTACCACGCAGC	0.512																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(11653-11655)ggT>ggC		vacuolar protein sorting 13 homolog D (S. cerevisiae)							118.0	105.0	109.0					1																	12460258		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12460258T>C	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11655T>C	1.37:g.12460258T>C						VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.G3860G	p.G3885G	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	61	11785	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3884						Silent	SNP	ENST00000358136.3	37	c.11655T>C	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	T	8.780	0.927942	0.18056	.	.	ENSG00000048707	ENST00000011700	.	.	.	6.03	-10.7	0.00240	.	.	.	.	.	T	0.44201	0.1282	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54351	-0.8307	4	.	.	.	.	7.7734	0.29021	0.0779:0.5017:0.2355:0.1848	.	.	.	.	A	2707	.	.	V	+	2	0	VPS13D	12382845	0.514000	0.26202	0.480000	0.27341	0.812000	0.45895	-0.234000	0.09028	-2.038000	0.00918	-2.308000	0.00257	GTA		0.512	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		25	68	0	0	0	1	0	25	68				
HTR3A	3359	broad.mit.edu	37	11	113856847	113856847	+	Missense_Mutation	SNP	C	C	T	rs139246177	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:113856847C>T	ENST00000504030.2	+	6	1100	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	HTR3A_ENST00000355556.2_Missense_Mutation_p.R225W|HTR3A_ENST00000375498.2_Missense_Mutation_p.R225W|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000506841.2_Missense_Mutation_p.R219W|HTR3A_ENST00000299961.5_Missense_Mutation_p.R204W			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	219					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.R219W(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	GCCCTACTTTCGGGAGTTCAG	0.478																																						ENST00000504030.2																			1	Substitution - Missense(1)	p.R219W(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(655-657)Cgg>Tgg		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	C	TRP/ARG,TRP/ARG,TRP/ARG	0,4402		0,0,2201	168.0	174.0	172.0		673,610,673	4.3	0.0	11	dbSNP_134	172	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense,missense	HTR3A	NM_000869.5,NM_001161772.2,NM_213621.3	101,101,101	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	225/485,204/464,225/517	113856847	1,12993	2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113856847C>T	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.655C>T	11.37:g.113856847C>T	ENSP00000424189:p.Arg219Trp					HTR3A_ENST00000355556.2_Missense_Mutation_p.R225W|HTR3A_ENST00000506841.2_Missense_Mutation_p.R219W|HTR3A_ENST00000375498.2_Missense_Mutation_p.R225W|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000299961.5_Missense_Mutation_p.R204W	p.R219W			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	6	1100	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	219					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.655C>T		.	.	.	.	.	.	.	.	.	.	C	10.14	1.267837	0.23136	0.0	1.16E-4	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35	5.19	4.27	0.50696	.	0.524214	0.21569	N	0.072432	D	0.84023	0.5381	L	0.54965	1.715	0.23043	N	0.998384	D;B;D	0.69078	0.997;0.085;0.997	P;B;P	0.56916	0.72;0.009;0.809	T	0.76987	-0.2755	10	0.72032	D	0.01	-8.5225	13.06	0.59002	0.4111:0.5889:0.0:0.0	.	204;225;225	B4DSY6;G5E986;Q7KZM7	.;.;.	W	219;225;225;219;204	ENSP00000424189:R219W;ENSP00000347754:R225W;ENSP00000364648:R225W;ENSP00000424776:R219W;ENSP00000299961:R204W	ENSP00000299961:R204W	R	+	1	2	HTR3A	113362057	0.012000	0.17670	0.002000	0.10522	0.024000	0.10985	2.421000	0.44688	1.285000	0.44548	0.655000	0.94253	CGG		0.478	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		67	222	0	0	0	1	0	67	222				
CHD9	80205	broad.mit.edu	37	16	53191364	53191364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:53191364C>T	ENST00000398510.3	+	1	1450	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	CHD9_ENST00000564845.1_Nonsense_Mutation_p.Q455*|CHD9_ENST00000566029.1_Nonsense_Mutation_p.Q455*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.Q455*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	455					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GGCTCAGACTCAGTTGCAAAG	0.418																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(1363-1365)Cag>Tag		chromodomain helicase DNA binding protein 9							96.0	90.0	92.0					16																	53191364		1938	4148	6086	SO:0001587	stop_gained	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53191364C>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1363C>T	16.37:g.53191364C>T	ENSP00000381522:p.Gln455*					CHD9_ENST00000564845.1_Nonsense_Mutation_p.Q455*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.Q455*|CHD9_ENST00000398510.3_Nonsense_Mutation_p.Q455*	p.Q455*			Q3L8U1	CHD9_HUMAN			2	1572	+		all_cancers(37;0.0212)	455					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Nonsense_Mutation	SNP	ENST00000398510.3	37	c.1363C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.151102	0.97329	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	.	.	.	5.69	5.69	0.88448	.	0.247097	0.29558	N	0.011801	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-2.7904	19.8165	0.96571	0.0:1.0:0.0:0.0	.	.	.	.	X	455	.	ENSP00000381522:Q455X	Q	+	1	0	CHD9	51748865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.751000	0.55165	2.683000	0.91414	0.655000	0.94253	CAG		0.418	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		7	61	0	0	0	1	0	7	61				
ECE2	9718	broad.mit.edu	37	3	183967525	183967525	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:183967525G>A	ENST00000402825.3	+	1	43	c.43G>A	c.(43-45)Gag>Aag	p.E15K	EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000455059.1_5'Flank|ECE2_ENST00000324557.4_Missense_Mutation_p.E15K|ALG3_ENST00000418734.2_5'Flank|ALG3_ENST00000445626.2_5'Flank|ALG3_ENST00000397676.3_5'Flank	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	15	Methyltransferase-like region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGTTACCGGAGCGGAACTG	0.652											OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000402825.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(43-45)Gag>Aag		endothelin converting enzyme 2							32.0	34.0	33.0					3																	183967525		2203	4299	6502	SO:0001583	missense	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183967525G>A	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.43G>A	3.37:g.183967525G>A	ENSP00000384223:p.Glu15Lys		OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1988	ECE2_ENST00000324557.4_Missense_Mutation_p.E15K|EIF2B5_ENST00000444495.1_Intron	p.E15K	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	43	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		15			Methyltransferase-like region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	c.43G>A	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673134	0.29693	.	.	ENSG00000145194	ENST00000324557;ENST00000402825	T;T	0.80738	2.26;-1.41	5.57	4.68	0.58851	.	.	.	.	.	T	0.63355	0.2504	L	0.27053	0.805	0.45097	D	0.99811	B;B	0.11235	0.0;0.004	B;B	0.11329	0.001;0.006	T	0.54510	-0.8283	9	0.02654	T	1	-10.523	8.4968	0.33132	0.0856:0.1582:0.7562:0.0	.	15;15	O60344;O60344-4	ECE2_HUMAN;.	K	15	ENSP00000314295:E15K;ENSP00000384223:E15K	ENSP00000314295:E15K	E	+	1	0	ECE2	185450219	0.796000	0.28864	0.786000	0.31890	0.271000	0.26615	1.030000	0.30153	2.781000	0.95711	0.591000	0.81541	GAG		0.652	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		18	43	0	0	0	1	0	18	43				
TUBB2A	7280	broad.mit.edu	37	6	3154891	3154891	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:3154891G>A	ENST00000333628.3	-	4	606	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S	TUBB2A_ENST00000489942.1_5'UTR|RP1-40E16.11_ENST00000447644.1_RNA	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	182					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCGTTGTAGGGCTCCACCACC	0.557																																						ENST00000333628.3																			0				endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9						c.(544-546)Ccc>Tcc		tubulin, beta 2A class IIa							153.0	73.0	100.0					6																	3154891		2203	4299	6502	SO:0001583	missense	7280				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr6:3154891G>A	AY159127	CCDS4484.1	6p25.2	2012-10-02	2011-10-10	2005-11-03	ENSG00000137267	ENSG00000137267		"""Tubulins"""	12412	protein-coding gene	gene with protein product	"""class IIa beta-tubulin"""	615101	"""tubulin, beta polypeptide"", ""tubulin, beta 2"", ""tubulin, beta 2A"""	TUBB, TUBB2		14574404	Standard	NM_001069		Approved	dJ40E16.7	uc003mvc.3	Q13885	OTTHUMG00000014135	ENST00000333628.3:c.544C>T	6.37:g.3154891G>A	ENSP00000369703:p.Pro182Ser					TUBB2A_ENST00000489942.1_5'UTR	p.P182S	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN			4	606	-	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	182					Q6FGZ8|Q8IWR2	Missense_Mutation	SNP	ENST00000333628.3	37	c.544C>T	CCDS4484.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207803	0.58343	.	.	ENSG00000137267	ENST00000333628;ENST00000392362	T	0.70516	-0.49	5.01	5.01	0.66863	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.53938	U	0.000048	D	0.88145	0.6358	H	0.95079	3.62	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.984	D;D;D	0.97110	1.0;0.976;0.955	D	0.91562	0.5265	10	0.87932	D	0	.	18.6816	0.91548	0.0:0.0:1.0:0.0	.	182;182;182	B2R6L0;Q13885;Q8N6N5	.;TBB2A_HUMAN;.	S	182;92	ENSP00000369703:P182S	ENSP00000369703:P182S	P	-	1	0	TUBB2A	3099890	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.625000	0.98406	2.491000	0.84063	0.650000	0.86243	CCC		0.557	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039662.1	NM_001069		21	78	0	0	0	1	0	21	78				
NRCAM	4897	broad.mit.edu	37	7	107824692	107824692	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:107824692G>A	ENST00000425651.2	-	19	2296	c.2297C>T	c.(2296-2298)aCg>aTg	p.T766M	NRCAM_ENST00000379024.4_Missense_Mutation_p.T747M|NRCAM_ENST00000413765.2_Missense_Mutation_p.T747M|NRCAM_ENST00000379022.4_Missense_Mutation_p.T766M|NRCAM_ENST00000379028.3_Missense_Mutation_p.T766M|NRCAM_ENST00000351718.4_Missense_Mutation_p.T750M	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	766	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CACCTTCCACGTAATCACCAA	0.383																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(2296-2298)aCg>aTg		neuronal cell adhesion molecule							86.0	73.0	78.0					7																	107824692		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107824692G>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2297C>T	7.37:g.107824692G>A	ENSP00000401244:p.Thr766Met					NRCAM_ENST00000379024.4_Missense_Mutation_p.T747M|NRCAM_ENST00000425651.2_Missense_Mutation_p.T766M|NRCAM_ENST00000379022.4_Missense_Mutation_p.T766M|NRCAM_ENST00000351718.4_Missense_Mutation_p.T750M|NRCAM_ENST00000413765.2_Missense_Mutation_p.T747M	p.T766M			Q92823	NRCAM_HUMAN			22	2767	-			766			Fibronectin type-III 2.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.2297C>T	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101963	0.56183	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.104398	0.64402	D	0.000002	T	0.73783	0.3631	M	0.85099	2.735	0.51012	D	0.999909	D;P;P;D;D	0.64830	0.968;0.723;0.947;0.968;0.994	P;B;P;B;P	0.57371	0.497;0.131;0.473;0.342;0.819	T	0.78061	-0.2351	10	0.62326	D	0.03	.	13.5938	0.61978	0.0742:0.0:0.9258:0.0	.	766;747;747;750;766	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	M	766;766;747;766;750;747;766;766;750	ENSP00000368314:T766M;ENSP00000407858:T747M;ENSP00000325269:T750M;ENSP00000368310:T747M;ENSP00000401244:T766M;ENSP00000368308:T766M	ENSP00000325269:T750M	T	-	2	0	NRCAM	107611928	1.000000	0.71417	0.958000	0.39756	0.917000	0.54804	4.857000	0.62939	2.548000	0.85928	0.591000	0.81541	ACG		0.383	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		18	55	0	0	0	1	0	18	55				
ZNF236	7776	broad.mit.edu	37	18	74620313	74620313	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:74620313G>A	ENST00000253159.8	+	14	2527	c.2329G>A	c.(2329-2331)Gca>Aca	p.A777T	ZNF236_ENST00000320610.9_Missense_Mutation_p.A779T	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	777					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GCATCAGCAGGCAGCCTCGAT	0.517																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(2329-2331)Gca>Aca		zinc finger protein 236							123.0	130.0	128.0					18																	74620313		2076	4219	6295	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74620313G>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2329G>A	18.37:g.74620313G>A	ENSP00000253159:p.Ala777Thr					ZNF236_ENST00000320610.9_Missense_Mutation_p.A779T	p.A777T	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	14	2527	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	777					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.2329G>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	9.543	1.114006	0.20795	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11277	2.79;2.94	5.23	5.23	0.72850	.	0.229658	0.38005	N	0.001859	T	0.13500	0.0327	L	0.57536	1.79	0.35648	D	0.811508	B	0.25609	0.13	B	0.16289	0.015	T	0.05084	-1.0907	10	0.49607	T	0.09	.	14.9267	0.70884	0.0:0.0:0.8479:0.1521	.	777	Q9UL36	ZN236_HUMAN	T	777	ENSP00000253159:A777T;ENSP00000444524:A777T	ENSP00000253159:A777T	A	+	1	0	ZNF236	72749301	0.592000	0.26832	0.477000	0.27303	0.043000	0.13939	3.600000	0.54052	2.600000	0.87896	0.563000	0.77884	GCA		0.517	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			38	144	0	0	0	1	0	38	144				
XPC	7508	broad.mit.edu	37	3	14199968	14199968	+	Missense_Mutation	SNP	G	G	A	rs67964918|rs11339194		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:14199968G>A	ENST00000285021.7	-	9	1629	c.1415C>T	c.(1414-1416)gCt>gTt	p.A472V	XPC_ENST00000449060.2_Missense_Mutation_p.A435V	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	472	Arg/Lys-rich (basic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTCTGAGGAGCGGGGGCTTT	0.592			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1414-1416)gCt>gTt	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							32.0	34.0	33.0					3																	14199968		1568	3582	5150	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14199968G>A		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.1415C>T	3.37:g.14199968G>A	ENSP00000285021:p.Ala472Val					XPC_ENST00000449060.2_Missense_Mutation_p.A435V	p.A472V	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			9	1629	-			472			Arg/Lys-rich (basic).		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.1415C>T	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	G	5.896	0.349514	0.11182	.	.	ENSG00000154767	ENST00000285021;ENST00000449060;ENST00000545431	T;T	0.36340	1.26;1.28	5.18	3.35	0.38373	.	.	.	.	.	T	0.33265	0.0857	L	0.51422	1.61	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.16722	0.016;0.011	T	0.19679	-1.0298	9	0.38643	T	0.18	.	11.4671	0.50246	0.0705:0.324:0.6055:0.0	.	435;472	E9PH69;Q01831	.;XPC_HUMAN	V	472;435;62	ENSP00000285021:A472V;ENSP00000404002:A435V	ENSP00000285021:A472V	A	-	2	0	XPC	.	0.000000	0.05858	0.017000	0.16124	0.003000	0.03518	0.147000	0.16202	1.394000	0.46624	0.591000	0.81541	GCT		0.592	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		11	43	0	0	0	1	0	11	43				
TAB1	10454	broad.mit.edu	37	22	39822777	39822777	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:39822777G>A	ENST00000216160.6	+	9	1053	c.991G>A	c.(991-993)Gtg>Atg	p.V331M	TAB1_ENST00000331454.3_Missense_Mutation_p.V331M	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	331	PP2C-like.				activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|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 NF-kappaB transcription factor activity (GO:0051092)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CCAGGCCGTCGTGGACCGGGT	0.627																																						ENST00000216160.6																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						c.(991-993)Gtg>Atg		TGF-beta activated kinase 1/MAP3K7 binding protein 1							90.0	80.0	83.0					22																	39822777		2203	4300	6503	SO:0001583	missense	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39822777G>A	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.991G>A	22.37:g.39822777G>A	ENSP00000216160:p.Val331Met					TAB1_ENST00000331454.3_Missense_Mutation_p.V331M	p.V331M	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN			9	1053	+			331			PP2C-like.		Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	c.991G>A	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846955	0.71603	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.12147	2.71;2.71	5.44	5.44	0.79542	Protein phosphatase 2C-like (4);	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.971;0.999	T	0.13361	-1.0512	10	0.23891	T	0.37	-14.6656	19.2727	0.94016	0.0:0.0:1.0:0.0	.	331;331;475	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	M	331	ENSP00000216160:V331M;ENSP00000333049:V331M	ENSP00000216160:V331M	V	+	1	0	TAB1	38152723	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	8.815000	0.91973	2.559000	0.86315	0.591000	0.81541	GTG		0.627	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		30	89	0	0	0	1	0	30	89				
CNOT2	4848	broad.mit.edu	37	12	70724105	70724105	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:70724105A>G	ENST00000418359.3	+	7	876	c.425A>G	c.(424-426)cAc>cGc	p.H142R	CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000229195.3_Missense_Mutation_p.H142R	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	142					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 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)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ATGATGAACCACTCCCAGGTT	0.408																																						ENST00000229195.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(424-426)cAc>cGc		CCR4-NOT transcription complex, subunit 2							108.0	102.0	104.0					12																	70724105		2203	4300	6503	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70724105A>G	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.425A>G	12.37:g.70724105A>G	ENSP00000412091:p.His142Arg					CNOT2_ENST00000418359.3_Missense_Mutation_p.H142R|CNOT2_ENST00000548230.1_3'UTR	p.H142R	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		6	1004	+	Renal(347;0.236)		142					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.425A>G	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	A	9.873	1.199503	0.22121	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000551873;ENST00000550194	T;T;T;T	0.44083	0.93;0.93;0.94;0.93	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.30070	0.0753	L	0.27053	0.805	0.54753	D	0.999985	B	0.29432	0.244	B	0.24701	0.055	T	0.08848	-1.0702	10	0.15499	T	0.54	-6.438	15.9985	0.80270	1.0:0.0:0.0:0.0	.	142	Q9NZN8	CNOT2_HUMAN	R	142;142;142;122;133;142;142;57;142	ENSP00000229195:H142R;ENSP00000412091:H142R;ENSP00000449659:H133R;ENSP00000449260:H142R	ENSP00000229195:H142R	H	+	2	0	CNOT2	69010372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.451000	0.80668	2.233000	0.73108	0.455000	0.32223	CAC		0.408	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			29	135	0	0	0	1	0	29	135				
TMEM132E	124842	broad.mit.edu	37	17	32964827	32964827	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:32964827A>G	ENST00000321639.5	+	10	2859	c.2531A>G	c.(2530-2532)cAc>cGc	p.H844R		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	844						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CACTCTCACCACTGGGTGTTC	0.657																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(2530-2532)cAc>cGc		transmembrane protein 132E							51.0	50.0	50.0					17																	32964827		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32964827A>G	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2531A>G	17.37:g.32964827A>G	ENSP00000316532:p.His844Arg						p.H844R	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	2859	+			844					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.2531A>G	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.615577	0.46631	.	.	ENSG00000181291	ENST00000321639	T	0.05925	3.37	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.11836	0.0288	M	0.61703	1.905	0.58432	D	0.999999	P	0.46512	0.879	P	0.45167	0.472	T	0.01178	-1.1427	10	0.87932	D	0	-29.6801	13.5748	0.61868	1.0:0.0:0.0:0.0	.	844	Q6IEE7	T132E_HUMAN	R	844	ENSP00000316532:H844R	ENSP00000316532:H844R	H	+	2	0	TMEM132E	29988940	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	9.139000	0.94554	1.993000	0.58246	0.523000	0.50628	CAC		0.657	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		33	111	0	0	0	1	0	33	111				
SEC14L1	6397	broad.mit.edu	37	17	75205426	75205426	+	Silent	SNP	C	C	T	rs554567260		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:75205426C>T	ENST00000413679.2	+	14	1782	c.1479C>T	c.(1477-1479)tgC>tgT	p.C493C	SEC14L1_ENST00000436233.4_Silent_p.C493C|SEC14L1_ENST00000392476.2_Silent_p.C493C|SEC14L1_ENST00000443798.4_Silent_p.C493C|SEC14L1_ENST00000430767.4_Silent_p.C493C|SEC14L1_ENST00000585618.1_Silent_p.C493C|SEC14L1_ENST00000591437.1_Silent_p.C459C|SEC14L1_ENST00000431431.2_Silent_p.C459C	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	493	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TCTTCCAGTGCGAAGTGCCAG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		18459	0.0		0.0	False		,,,				2504	0.001					ENST00000413679.2																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1477-1479)tgC>tgT		SEC14-like 1 (S. cerevisiae)							68.0	59.0	62.0					17																	75205426		2203	4300	6503	SO:0001819	synonymous_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75205426C>T	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1479C>T	17.37:g.75205426C>T						SEC14L1_ENST00000436233.4_Silent_p.C493C|SEC14L1_ENST00000392476.2_Silent_p.C493C|SEC14L1_ENST00000591437.1_Silent_p.C459C|SEC14L1_ENST00000585618.1_Silent_p.C493C|SEC14L1_ENST00000431431.2_Silent_p.C459C|SEC14L1_ENST00000430767.4_Silent_p.C493C|SEC14L1_ENST00000443798.4_Silent_p.C493C	p.C493C	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN			14	1782	+			493			CRAL-TRIO.		A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	c.1479C>T	CCDS11752.1																																																																																				0.547	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		16	43	0	0	0	1	0	16	43				
EHBP1L1	254102	broad.mit.edu	37	11	65349873	65349873	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:65349873T>C	ENST00000309295.4	+	9	1995	c.1730T>C	c.(1729-1731)gTa>gCa	p.V577A		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	577	Glu-rich.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACTGAGGTGGTAGGGTTGGAG	0.567																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1729-1731)gTa>gCa		EH domain binding protein 1-like 1							24.0	27.0	26.0					11																	65349873		1890	4113	6003	SO:0001583	missense	254102							g.chr11:65349873T>C	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1730T>C	11.37:g.65349873T>C	ENSP00000312671:p.Val577Ala						p.V577A	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			9	1995	+			577			Glu-rich.		Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.1730T>C	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.591742	0.28357	.	.	ENSG00000173442	ENST00000309295	T	0.63255	-0.03	5.0	-2.96	0.05547	.	0.943966	0.08687	N	0.908584	T	0.34687	0.0906	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17048	-1.0382	10	0.22109	T	0.4	.	5.4325	0.16460	0.0:0.3834:0.2472:0.3694	.	577	Q8N3D4	EH1L1_HUMAN	A	577	ENSP00000312671:V577A	ENSP00000312671:V577A	V	+	2	0	EHBP1L1	65106449	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.618000	0.05578	-0.194000	0.10399	-0.408000	0.06270	GTA		0.567	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		21	43	0	0	0	1	0	21	43				
CACNA1B	774	broad.mit.edu	37	9	140938227	140938227	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:140938227T>C	ENST00000371372.1	+	21	3433	c.3288T>C	c.(3286-3288)agT>agC	p.S1096S	CACNA1B_ENST00000371357.1_Splice_Site_p.S1097S|CACNA1B_ENST00000371355.4_Splice_Site_p.S1097S|CACNA1B_ENST00000545473.1_Splice_Site_p.G122G|CACNA1B_ENST00000371363.1_Splice_Site_p.S1096S|CACNA1B_ENST00000277549.5_Splice_Site_p.S288S|CACNA1B_ENST00000277551.2_Splice_Site_p.S1096S	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1096					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCTTGTAGGTGGTAACGTGG	0.627																																						ENST00000277549.5																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.e21-1		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						150.0	173.0	166.0					9																	140938227		2105	4205	6310	SO:0001630	splice_region_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140938227T>C	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3287-1T>C	9.37:g.140938227T>C						CACNA1B_ENST00000371357.1_Splice_Site_p.S1097_splice|CACNA1B_ENST00000277551.2_Splice_Site_p.S1096_splice|CACNA1B_ENST00000371363.1_Splice_Site_p.S1096_splice|CACNA1B_ENST00000371372.1_Splice_Site_p.S1096_splice|CACNA1B_ENST00000545473.1_Splice_Site_p.G122_splice|CACNA1B_ENST00000371355.4_Splice_Site_p.S1097_splice	p.S288_splice			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	21	3433	+	all_cancers(76;0.166)		1096					B1AQK5	Splice_Site	SNP	ENST00000371372.1	37	c.862_splice	CCDS59522.1																																																																																				0.627	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	Silent	8	103	0	0	0	1	0	8	103				
FOXN3	1112	broad.mit.edu	37	14	89878383	89878383	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:89878383T>C	ENST00000345097.4	-	2	554	c.438A>G	c.(436-438)gaA>gaG	p.E146E	RP11-33N16.3_ENST00000555070.1_RNA|FOXN3_ENST00000557258.1_Silent_p.E146E|RP11-33N16.2_ENST00000556383.1_RNA|FOXN3_ENST00000261302.5_Silent_p.E146E|FOXN3_ENST00000555353.1_Silent_p.E146E	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	146					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACGGAAAATGTTCCAAGATCC	0.438																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(436-438)gaA>gaG		forkhead box N3							82.0	84.0	83.0					14																	89878383		2203	4300	6503	SO:0001819	synonymous_variant	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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.chr14:89878383T>C		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.438A>G	14.37:g.89878383T>C						FOXN3_ENST00000261302.5_Silent_p.E146E|FOXN3_ENST00000557258.1_Silent_p.E146E|FOXN3_ENST00000555353.1_Silent_p.E146E	p.E146E	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			2	554	-			146					Q96II7|Q9UIE7	Silent	SNP	ENST00000345097.4	37	c.438A>G	CCDS41977.1	.	.	.	.	.	.	.	.	.	.	T	8.574	0.880832	0.17467	.	.	ENSG00000053254	ENST00000556916	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	T	0.70789	0.3264	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70513	-0.4851	4	.	.	.	.	14.9853	0.71342	0.0:0.0:0.0:1.0	.	.	.	.	S	7	.	.	N	-	2	0	FOXN3	88948136	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.990000	0.56965	2.005000	0.58758	0.374000	0.22700	AAC		0.438	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		32	102	0	0	0	1	0	32	102				
TOX	9760	broad.mit.edu	37	8	59851885	59851885	+	Silent	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:59851885T>G	ENST00000361421.1	-	3	607	c.387A>C	c.(385-387)acA>acC	p.T129T		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	129						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TAGAAAGCAGTGTTCCATCCT	0.488																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(385-387)acA>acC		thymocyte selection-associated high mobility group box							124.0	122.0	122.0					8																	59851885		2203	4300	6503	SO:0001819	synonymous_variant	9760					nucleus	DNA binding	g.chr8:59851885T>G		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.387A>C	8.37:g.59851885T>G							p.T129T	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			3	607	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	129					Q96AV5	Silent	SNP	ENST00000361421.1	37	c.387A>C	CCDS34897.1																																																																																				0.488	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		15	136	0	0	0	1	0	15	136				
TG	7038	broad.mit.edu	37	8	133895231	133895231	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:133895231G>A	ENST00000220616.4	+	8	1102	c.1062G>A	c.(1060-1062)gaG>gaA	p.E354E	TG_ENST00000377869.1_Silent_p.E354E	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	354	Thyroglobulin type-1 4. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAAGGGGAGCCGCCATCTT	0.597																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(1060-1062)gaG>gaA		thyroglobulin							28.0	28.0	28.0					8																	133895231		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133895231G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1062G>A	8.37:g.133895231G>A						TG_ENST00000377869.1_Silent_p.E354E	p.E354E	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	8	1102	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	354			Thyroglobulin type-1 4.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.1062G>A	CCDS34944.1																																																																																				0.597	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		11	69	0	0	0	1	0	11	69				
DPF2	5977	broad.mit.edu	37	11	65108004	65108004	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:65108004C>A	ENST00000528416.1	+	2	314	c.181C>A	c.(181-183)Cac>Aac	p.H61N	DPF2_ENST00000532264.1_Intron|DPF2_ENST00000415073.2_Missense_Mutation_p.H61N|DPF2_ENST00000252268.4_Missense_Mutation_p.H61N	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	61					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						GGAAAAGCGACACCGGGGTCC	0.557																																						ENST00000528416.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						c.(181-183)Cac>Aac		D4, zinc and double PHD fingers family 2							66.0	72.0	70.0					11																	65108004		2201	4297	6498	SO:0001583	missense	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65108004C>A	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.181C>A	11.37:g.65108004C>A	ENSP00000436901:p.His61Asn					DPF2_ENST00000415073.2_Missense_Mutation_p.H61N|DPF2_ENST00000532264.1_Intron|DPF2_ENST00000252268.4_Missense_Mutation_p.H61N	p.H61N	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN			2	314	+			61					A8K7C9|B4DT58	Missense_Mutation	SNP	ENST00000528416.1	37	c.181C>A	CCDS8100.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876165	0.91664	.	.	ENSG00000133884	ENST00000528416;ENST00000415073;ENST00000252268	D;D;D	0.90732	-2.63;-2.72;-2.64	5.52	5.52	0.82312	.	0.000000	0.39615	N	0.001301	D	0.94251	0.8154	L	0.58669	1.825	0.80722	D	1	D;D;D	0.62365	0.991;0.975;0.991	D;D;D	0.76575	0.988;0.928;0.988	D	0.94608	0.7802	10	0.87932	D	0	-29.7449	16.9414	0.86219	0.0:1.0:0.0:0.0	.	61;61;61	B4DT58;E9PN04;Q92785	.;.;REQU_HUMAN	N	61	ENSP00000436901:H61N;ENSP00000399714:H61N;ENSP00000252268:H61N	ENSP00000252268:H61N	H	+	1	0	DPF2	64864580	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	7.818000	0.86416	2.588000	0.87417	0.655000	0.94253	CAC		0.557	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		24	125	1	0	1.64293e-13	1	1.71518e-13	24	125				
OPLAH	26873	broad.mit.edu	37	8	145106322	145106322	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145106322C>T	ENST00000426825.1	-	28	3853	c.3772G>A	c.(3772-3774)Gac>Aac	p.D1258N	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000561181.1_RNA|CTD-3065J16.6_ENST00000528912.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1258					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGGCGGGGTCCTCCGGGTCC	0.736																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(3772-3774)Gac>Aac		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						7.0	10.0	9.0					8																	145106322		1775	4031	5806	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145106322C>T	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3772G>A	8.37:g.145106322C>T	ENSP00000475943:p.Asp1258Asn					OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA	p.D1258N	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		28	3853	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1258					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.3772G>A		.	.	.	.	.	.	.	.	.	.	c	13.15	2.151834	0.38021	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.88	3.03	0.35002	.	0.224865	0.45126	D	0.000391	T	0.26376	0.0644	N	0.14661	0.345	0.38165	D	0.939149	P	0.37781	0.608	B	0.41036	0.346	T	0.33828	-0.9853	8	0.56958	D	0.05	.	7.2423	0.26104	0.0:0.8152:0.0:0.1848	.	1258	O14841	OPLA_HUMAN	N	1258	.	ENSP00000412071:D1258N	D	-	1	0	OPLAH	145178310	0.500000	0.26091	0.788000	0.31933	0.544000	0.35116	2.042000	0.41222	2.251000	0.74343	0.479000	0.44913	GAC		0.736	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		12	59	0	0	0	1	0	12	59				
IZUMO1	284359	broad.mit.edu	37	19	49244666	49244666	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:49244666T>A	ENST00000332955.2	-	9	1371	c.824A>T	c.(823-825)gAg>gTg	p.E275V	RASIP1_ENST00000222145.4_5'Flank|RASIP1_ENST00000594232.1_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	275					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TATGGACGACTCCGTGGTCGC	0.557																																						ENST00000332955.2																			0				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(823-825)gAg>gTg		izumo sperm-egg fusion 1							65.0	71.0	69.0					19																	49244666		2203	4300	6503	SO:0001583	missense	284359				fusion of sperm to egg plasma membrane	integral to membrane		g.chr19:49244666T>A	BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"""-"""	28539	protein-coding gene	gene with protein product	"""oocyte binding/fusion factor"""	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.824A>T	19.37:g.49244666T>A	ENSP00000327786:p.Glu275Val						p.E275V	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	9	1371	-		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)	275					Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	c.824A>T	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	T	8.248	0.808420	0.16467	.	.	ENSG00000182264	ENST00000332955	T	0.23552	1.9	3.16	-4.38	0.03622	.	10.790900	0.00166	N	0.000000	T	0.14356	0.0347	N	0.14661	0.345	0.09310	N	1	P	0.36354	0.549	B	0.37888	0.26	T	0.06409	-1.0828	10	0.27082	T	0.32	0.786	4.6182	0.12437	0.0:0.3561:0.3515:0.2924	.	275	Q8IYV9	IZUM1_HUMAN	V	275	ENSP00000327786:E275V	ENSP00000327786:E275V	E	-	2	0	IZUMO1	53936478	0.000000	0.05858	0.000000	0.03702	0.558000	0.35554	-2.525000	0.00948	-1.273000	0.02424	0.482000	0.46254	GAG		0.557	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575		20	75	0	0	0	1	0	20	75				
CYP1A2	1544	broad.mit.edu	37	15	75047248	75047248	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:75047248G>T	ENST00000343932.4	+	7	1433	c.1370G>T	c.(1369-1371)cGg>cTg	p.R457L		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	457			R -> W (in dbSNP:rs34151816).		alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	GGCAAGCGCCGGTGTATCGGG	0.597																																						ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(1369-1371)cGg>cTg		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						117.0	101.0	107.0					15																	75047248		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75047248G>T	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1370G>T	15.37:g.75047248G>T	ENSP00000342007:p.Arg457Leu						p.R457L	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			7	1433	+			457		R -> W (in dbSNP:rs34151816).			Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.1370G>T	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619611	0.66787	.	.	ENSG00000140505	ENST00000343932	T	0.68331	-0.32	4.42	4.42	0.53409	.	0.098369	0.64402	D	0.000003	T	0.75539	0.3863	M	0.74389	2.26	0.58432	D	0.999999	P	0.46952	0.887	P	0.50314	0.637	T	0.80812	-0.1215	10	0.87932	D	0	.	17.1951	0.86891	0.0:0.0:1.0:0.0	.	457	P05177-2	.	L	457	ENSP00000342007:R457L	ENSP00000342007:R457L	R	+	2	0	CYP1A2	72834301	0.994000	0.37717	1.000000	0.80357	0.030000	0.12068	1.975000	0.40569	2.289000	0.77006	0.455000	0.32223	CGG		0.597	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		41	104	1	0	1.67305e-13	1	1.74621e-13	41	104				
STAB2	55576	broad.mit.edu	37	12	104064492	104064492	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:104064492G>A	ENST00000388887.2	+	22	2482	c.2278G>A	c.(2278-2280)Ggc>Agc	p.G760S	RP11-341G23.3_ENST00000550175.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TAGCCTCGGCGGCAACGGGAC	0.507																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(2278-2280)Ggc>Agc		stabilin 2							77.0	68.0	71.0					12																	104064492		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104064492G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2278G>A	12.37:g.104064492G>A	ENSP00000373539:p.Gly760Ser						p.G760S	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			22	2482	+			760			EGF-like 6.			Missense_Mutation	SNP	ENST00000388887.2	37	c.2278G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.687240	0.68157	.	.	ENSG00000136011	ENST00000388887	D	0.85556	-2.0	5.33	5.33	0.75918	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.062472	0.64402	D	0.000006	D	0.92916	0.7746	M	0.82630	2.6	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.93501	0.6844	10	0.62326	D	0.03	.	17.8244	0.88660	0.0:0.0:1.0:0.0	.	760	Q8WWQ8	STAB2_HUMAN	S	760	ENSP00000373539:G760S	ENSP00000373539:G760S	G	+	1	0	STAB2	102588622	1.000000	0.71417	0.941000	0.38009	0.012000	0.07955	7.148000	0.77389	2.499000	0.84300	0.655000	0.94253	GGC		0.507	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			11	24	0	0	0	1	0	11	24				
CCDC88B	283234	broad.mit.edu	37	11	64109474	64109474	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:64109474T>C	ENST00000356786.5	+	8	728	c.684T>C	c.(682-684)gcT>gcC	p.A228A	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	228						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCGGCTGGCTGAACTGCTGC	0.627																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(682-684)gcT>gcC		coiled-coil domain containing 88B							34.0	33.0	33.0					11																	64109474		2201	4297	6498	SO:0001819	synonymous_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64109474T>C	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.684T>C	11.37:g.64109474T>C						CCDC88B_ENST00000463837.1_3'UTR	p.A228A	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			8	728	+			228					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.684T>C	CCDS8072.2																																																																																				0.627	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		14	51	0	0	0	1	0	14	51				
PCDHAC2	56134	broad.mit.edu	37	5	140346540	140346540	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140346540C>T	ENST00000289269.5	+	1	721	c.189C>T	c.(187-189)cgC>cgT	p.R63R	PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	63	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGGCTCGCGCGCTGGGGC	0.692																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(187-189)cgC>cgT									9.0	11.0	10.0					5																	140346540		2096	4137	6233	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140346540C>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.189C>T	5.37:g.140346540C>T						PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron	p.R63R	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	721	+			63			Cadherin 1.		Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	c.189C>T	CCDS4242.1																																																																																				0.692	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		12	30	0	0	0	1	0	12	30				
POLD3	10714	broad.mit.edu	37	11	74324006	74324006	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:74324006T>C	ENST00000263681.2	+	5	472	c.343T>C	c.(343-345)Ttc>Ctc	p.F115L	POLD3_ENST00000532497.1_Missense_Mutation_p.F9L|POLD3_ENST00000527458.1_Missense_Mutation_p.F76L	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	115					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					TGGGCCTCTGTTCAATACTGA	0.443																																						ENST00000263681.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18						c.(343-345)Ttc>Ctc		polymerase (DNA-directed), delta 3, accessory subunit							194.0	162.0	173.0					11																	74324006		2200	4293	6493	SO:0001583	missense	10714				base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:74324006T>C	D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.343T>C	11.37:g.74324006T>C	ENSP00000263681:p.Phe115Leu					POLD3_ENST00000527458.1_Missense_Mutation_p.F76L|POLD3_ENST00000532497.1_Missense_Mutation_p.F9L	p.F115L	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN			5	472	+	Breast(11;3.21e-06)		115					B7ZAI6|Q32MZ9|Q32N00	Missense_Mutation	SNP	ENST00000263681.2	37	c.343T>C	CCDS8233.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.756833	0.89843	.	.	ENSG00000077514	ENST00000528481;ENST00000263681;ENST00000527458;ENST00000532497;ENST00000538052;ENST00000530511;ENST00000531615	.	.	.	5.68	5.68	0.88126	.	0.060905	0.64402	D	0.000002	T	0.58736	0.2143	L	0.55834	1.745	0.52501	D	0.999957	D	0.64830	0.994	P	0.50352	0.638	T	0.55547	-0.8124	9	0.12430	T	0.62	-26.0409	13.8939	0.63757	0.0:0.0:0.0:1.0	.	115	Q15054	DPOD3_HUMAN	L	76;115;76;9;115;76;76	.	ENSP00000263681:F115L	F	+	1	0	POLD3	74001654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.368000	0.79567	2.158000	0.67659	0.455000	0.32223	TTC		0.443	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591		45	127	0	0	0	1	0	45	127				
ADAM32	203102	broad.mit.edu	37	8	39080605	39080605	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:39080605G>A	ENST00000379907.4	+	14	1500	c.1373G>A	c.(1372-1374)tGt>tAt	p.C458Y	ADAM32_ENST00000519315.1_Missense_Mutation_p.C352Y|ADAM32_ENST00000437682.2_Missense_Mutation_p.C359Y	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	458	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CATCCTGAATGTGACATCGCT	0.328																																						ENST00000379907.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31						c.(1372-1374)tGt>tAt		ADAM metallopeptidase domain 32							65.0	61.0	62.0					8																	39080605		1887	4113	6000	SO:0001583	missense	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39080605G>A	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1373G>A	8.37:g.39080605G>A	ENSP00000369238:p.Cys458Tyr					ADAM32_ENST00000437682.2_Missense_Mutation_p.C359Y|ADAM32_ENST00000519315.1_Missense_Mutation_p.C352Y	p.C458Y	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		14	1500	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	458			Disintegrin.		Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	c.1373G>A	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.561169	0.45590	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	T;T;T	0.21932	2.12;2.12;1.98	5.55	5.55	0.83447	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.36303	N	0.002672	T	0.63390	0.2507	H	0.97829	4.085	0.39285	D	0.964626	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.78316	-0.2251	10	0.87932	D	0	.	15.3512	0.74389	0.0:0.0:1.0:0.0	.	359;352;458	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	Y	359;352;458	ENSP00000405978:C359Y;ENSP00000429422:C352Y;ENSP00000369238:C458Y	ENSP00000369238:C458Y	C	+	2	0	ADAM32	39199762	1.000000	0.71417	0.993000	0.49108	0.078000	0.17371	4.644000	0.61397	2.763000	0.94921	0.655000	0.94253	TGT		0.328	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		8	13	0	0	0	1	0	8	13				
ARFGEF1	10565	broad.mit.edu	37	8	68113816	68113816	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:68113816T>C	ENST00000262215.3	-	37	5542	c.5153A>G	c.(5152-5154)aAc>aGc	p.N1718S	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.N1172S|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.N556S|ARFGEF1_ENST00000517955.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1718					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTTCAGAAGGTTGGGCTTGGA	0.532																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(5152-5154)aAc>aGc		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							111.0	104.0	106.0					8																	68113816		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68113816T>C	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.5153A>G	8.37:g.68113816T>C	ENSP00000262215:p.Asn1718Ser					ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.N1172S|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.N556S	p.N1718S	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		37	5542	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1718					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.5153A>G	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.676585	0.88445	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518789;ENST00000518230	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.76593	0.4009	M	0.89478	3.035	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.992;1.0	D;D;P;D	0.87578	0.998;0.998;0.908;0.998	T	0.82014	-0.0667	10	0.87932	D	0	.	14.8907	0.70606	0.0:0.0:0.0:1.0	.	1718;1196;542;1172	Q9Y6D6;Q59FY5;B3KMS9;E5RIF2	BIG1_HUMAN;.;.;.	S	1172;1718;49;556	ENSP00000428429:N1172S;ENSP00000262215:N1718S;ENSP00000429560:N49S;ENSP00000430891:N556S	ENSP00000262215:N1718S	N	-	2	0	ARFGEF1	68276370	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	2.066000	0.61787	0.528000	0.53228	AAC		0.532	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		31	137	0	0	0	1	0	31	137				
DYRK2	8445	broad.mit.edu	37	12	68051507	68051507	+	Missense_Mutation	SNP	C	C	T	rs201048832		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:68051507C>T	ENST00000344096.3	+	3	1233	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Missense_Mutation_p.R201W	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GGAACACCTGCGGAAGCAGGA	0.522																																						ENST00000344096.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30						c.(820-822)Cgg>Tgg		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2							101.0	92.0	95.0					12																	68051507		2203	4300	6503	SO:0001583	missense	8445				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:68051507C>T	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.820C>T	12.37:g.68051507C>T	ENSP00000342105:p.Arg274Trp					DYRK2_ENST00000393555.3_Missense_Mutation_p.R201W	p.R274W	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	3	1233	+			274			Protein kinase.		B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	c.820C>T	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236352	0.39498	.	.	ENSG00000127334	ENST00000344096;ENST00000393555	T;T	0.22743	1.94;1.94	5.35	4.46	0.54185	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.101725	0.64402	D	0.000004	T	0.44117	0.1278	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.36578	-0.9742	9	.	.	.	.	13.2644	0.60125	0.4079:0.5921:0.0:0.0	.	274	Q92630	DYRK2_HUMAN	W	274;201	ENSP00000342105:R274W;ENSP00000377186:R201W	.	R	+	1	2	DYRK2	66337774	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	1.121000	0.31283	1.401000	0.46761	-0.823000	0.03104	CGG		0.522	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			26	152	0	0	0	1	0	26	152				
TRIO	7204	broad.mit.edu	37	5	14488150	14488150	+	Silent	SNP	G	G	A	rs534550337	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:14488150G>A	ENST00000344204.4	+	48	7437	c.7413G>A	c.(7411-7413)gaG>gaA	p.E2471E	TRIO_ENST00000344135.5_5'Flank|TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2471					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCGGCAAGGAGCCCTTCCCCC	0.746													g|||	2	0.000399361	0.0	0.0	5008	,	,		8207	0.002		0.0	False		,,,				2504	0.0					ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(7411-7413)gaG>gaA		trio Rho guanine nucleotide exchange factor							5.0	7.0	6.0					5																	14488150		1807	3787	5594	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14488150G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.7413G>A	5.37:g.14488150G>A						TRIO_ENST00000537187.1_Intron	p.E2471E	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			48	7437	+	Lung NSC(4;0.000742)		2471					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.7413G>A	CCDS3883.1																																																																																				0.746	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		10	18	0	0	0	1	0	10	18				
MTERF2	80298	broad.mit.edu	37	12	107372404	107372404	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:107372404A>G	ENST00000552029.1	-	2	2157	c.89T>C	c.(88-90)tTa>tCa	p.L30S	MTERFD3_ENST00000240050.4_Missense_Mutation_p.L30S|C12orf23_ENST00000551237.1_3'UTR|MTERFD3_ENST00000392830.2_Missense_Mutation_p.L30S			Q49AM1	MTEF2_HUMAN		30					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	transcription regulatory region DNA binding (GO:0044212)			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GAAGCATGCTAAGAAAGGTCT	0.413																																						ENST00000552029.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(88-90)tTa>tCa		MTERF domain containing 3							95.0	91.0	92.0					12																	107372404		2203	4300	6503	SO:0001583	missense	80298				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding	g.chr12:107372404A>G																												ENST00000552029.1:c.89T>C	12.37:g.107372404A>G	ENSP00000447651:p.Leu30Ser					C12orf23_ENST00000551237.1_3'UTR|MTERFD3_ENST00000240050.4_Missense_Mutation_p.L30S|MTERFD3_ENST00000392830.2_Missense_Mutation_p.L30S	p.L30S			Q49AM1	MTER3_HUMAN			2	2157	-			30					Q53HM2|Q9H4L6|Q9H7Y9	Missense_Mutation	SNP	ENST00000552029.1	37	c.89T>C	CCDS9111.1	.	.	.	.	.	.	.	.	.	.	A	2.849	-0.238711	0.05944	.	.	ENSG00000120832	ENST00000392830;ENST00000240050;ENST00000552029;ENST00000548101;ENST00000550736;ENST00000550496	T;T;T;T;T;T	0.61158	2.64;2.64;2.64;1.86;1.9;0.13	5.7	2.54	0.30619	.	1.585720	0.03454	N	0.211051	T	0.45276	0.1334	L	0.35723	1.085	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.15435	-1.0437	10	0.13470	T	0.59	0.1074	4.1684	0.10317	0.5713:0.0:0.2864:0.1423	.	30	Q49AM1	MTER3_HUMAN	S	30	ENSP00000376575:L30S;ENSP00000240050:L30S;ENSP00000447651:L30S;ENSP00000448343:L30S;ENSP00000448854:L30S;ENSP00000448246:L30S	ENSP00000240050:L30S	L	-	2	0	MTERFD3	105896534	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	1.511000	0.35801	0.197000	0.20387	0.377000	0.23210	TTA		0.413	MTERFD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406835.1			23	77	0	0	0	1	0	23	77				
NCK2	8440	broad.mit.edu	37	2	106509493	106509493	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:106509493T>C	ENST00000233154.4	+	5	1446	c.1004T>C	c.(1003-1005)gTg>gCg	p.V335A	NCK2_ENST00000451463.2_3'UTR|NCK2_ENST00000393349.2_Missense_Mutation_p.V335A|NCK2_ENST00000522586.1_3'UTR	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	335	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						CACTTCAAGGTGCAGCTCGTG	0.572																																						ENST00000233154.4																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(1003-1005)gTg>gCg		NCK adaptor protein 2							100.0	88.0	92.0					2																	106509493		2203	4300	6503	SO:0001583	missense	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106509493T>C	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.1004T>C	2.37:g.106509493T>C	ENSP00000233154:p.Val335Ala					NCK2_ENST00000522586.1_3'UTR|NCK2_ENST00000393349.2_Missense_Mutation_p.V335A|NCK2_ENST00000451463.2_3'UTR	p.V335A	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN			5	1446	+			335			SH2.		D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	ENST00000233154.4	37	c.1004T>C	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	t	28.6	4.934769	0.92458	.	.	ENSG00000071051	ENST00000233154;ENST00000393349	T;T	0.68331	-0.32;-0.32	5.15	5.15	0.70609	SH2 motif (5);	0.058457	0.64402	D	0.000002	D	0.86322	0.5905	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.90330	0.4351	10	0.87932	D	0	.	14.9744	0.71261	0.0:0.0:0.0:1.0	.	335	O43639	NCK2_HUMAN	A	335	ENSP00000233154:V335A;ENSP00000377018:V335A	ENSP00000233154:V335A	V	+	2	0	NCK2	105875925	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.673000	0.83973	1.943000	0.56356	0.454000	0.30748	GTG		0.572	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		9	66	0	0	0	1	0	9	66				
DBH	1621	broad.mit.edu	37	9	136501547	136501547	+	Silent	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:136501547A>T	ENST00000393056.2	+	1	66	c.54A>T	c.(52-54)gcA>gcT	p.A18A		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	18					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	TGCGGGAGGCAGCCTTCATGT	0.672																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(52-54)gcA>gcT		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						43.0	43.0	43.0					9																	136501547		2203	4300	6503	SO:0001819	synonymous_variant	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136501547A>T	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.54A>T	9.37:g.136501547A>T							p.A18A	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	1	66	+			18					Q5T381|Q96AG2	Silent	SNP	ENST00000393056.2	37	c.54A>T	CCDS6977.2																																																																																				0.672	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		18	68	0	0	0	1	0	18	68				
MLH3	27030	broad.mit.edu	37	14	75515253	75515253	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:75515253T>C	ENST00000556740.1	-	1	1141	c.1106A>G	c.(1105-1107)aAt>aGt	p.N369S	MLH3_ENST00000355774.2_Missense_Mutation_p.N369S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.N369S|MLH3_ENST00000238662.7_Missense_Mutation_p.N369S|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000544985.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	369					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACTAAAACCATTATCTTCACT	0.333								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1105-1107)aAt>aGt	Mismatch excision repair (MMR)	mutL homolog 3							51.0	53.0	52.0					14																	75515253		2202	4299	6501	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75515253T>C	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1106A>G	14.37:g.75515253T>C	ENSP00000452316:p.Asn369Ser					MLH3_ENST00000556740.1_Missense_Mutation_p.N369S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.N369S|MLH3_ENST00000556257.1_Missense_Mutation_p.N369S	p.N369S	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1321	-			369					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.1106A>G	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	T	8.884	0.952423	0.18431	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	D;D;D;D	0.82803	-1.55;-1.59;-1.65;-1.55	5.74	4.59	0.56863	.	0.185636	0.47093	D	0.000249	T	0.73305	0.3570	L	0.55103	1.725	0.80722	D	1	B;P	0.41188	0.433;0.741	B;B	0.31686	0.134;0.126	T	0.72197	-0.4363	10	0.29301	T	0.29	-22.8792	9.1803	0.37138	0.0:0.1401:0.0:0.8599	.	369;369	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	S	369	ENSP00000348020:N369S;ENSP00000238662:N369S;ENSP00000451540:N369S;ENSP00000452316:N369S	ENSP00000238662:N369S	N	-	2	0	MLH3	74585006	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.629000	0.37071	2.191000	0.70037	0.528000	0.53228	AAT		0.333	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		12	46	0	0	0	1	0	12	46				
TOR1B	27348	broad.mit.edu	37	9	132566419	132566419	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:132566419G>A	ENST00000259339.2	+	2	327	c.267G>A	c.(265-267)gcG>gcA	p.A89A	TOR1B_ENST00000486372.1_3'UTR	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	89					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum organization (GO:0007029)|nuclear membrane organization (GO:0071763)|protein homooligomerization (GO:0051260)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				TTTTCAAGGCGCTGACTGGCT	0.488																																						ENST00000259339.2																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12						c.(265-267)gcG>gcA		torsin family 1, member B (torsin B)							89.0	84.0	86.0					9																	132566419		2203	4300	6503	SO:0001819	synonymous_variant	27348				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding	g.chr9:132566419G>A	AF007872	CCDS6929.1	9q34	2008-07-21			ENSG00000136816	ENSG00000136816			11995	protein-coding gene	gene with protein product		608050				9288096, 10644435	Standard	NM_014506		Approved	DQ1, MGC4386	uc004byk.1	O14657	OTTHUMG00000020795	ENST00000259339.2:c.267G>A	9.37:g.132566419G>A						TOR1B_ENST00000486372.1_3'UTR	p.A89A	NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN			2	327	+		Ovarian(14;0.0586)	89						Silent	SNP	ENST00000259339.2	37	c.267G>A	CCDS6929.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870970	0.33069	.	.	ENSG00000136816	ENST00000427860	.	.	.	5.1	-5.89	0.02282	.	.	.	.	.	T	0.35068	0.0919	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38436	-0.9661	4	.	.	.	-9.3149	0.9948	0.01465	0.3613:0.1363:0.3039:0.1984	.	.	.	.	H	71	.	.	R	+	2	0	TOR1B	131606240	0.000000	0.05858	0.919000	0.36401	0.989000	0.77384	-3.322000	0.00513	-1.126000	0.02929	-0.367000	0.07326	CGC		0.488	TOR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054615.1	NM_014506		26	49	0	0	0	1	0	26	49				
CFH	3075	broad.mit.edu	37	1	196694375	196694375	+	Silent	SNP	T	T	C	rs200921441		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:196694375T>C	ENST00000367429.4	+	12	2061	c.1821T>C	c.(1819-1821)aaT>aaC	p.N607N		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	607	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTGGACCTAATTCCGTTCAGT	0.378																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1819-1821)aaT>aaC		complement factor H							121.0	110.0	113.0					1																	196694375		2203	4300	6503	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196694375T>C	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1821T>C	1.37:g.196694375T>C							p.N607N	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			12	2061	+			607			Sushi 10.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	c.1821T>C	CCDS1385.1																																																																																				0.378	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		21	89	0	0	0	1	0	21	89				
CHST6	4166	broad.mit.edu	37	16	75512863	75512863	+	Silent	SNP	G	G	A	rs574729720		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:75512863G>A	ENST00000332272.4	-	3	1043	c.864C>T	c.(862-864)taC>taT	p.Y288Y	CHST6_ENST00000390664.2_Silent_p.Y288Y|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	288					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGTGAAGGCGTAGAGCGCAC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		16680	0.0		0.0	False		,,,				2504	0.001					ENST00000332272.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(862-864)taC>taT		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							51.0	49.0	50.0					16																	75512863		2198	4300	6498	SO:0001819	synonymous_variant	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75512863G>A	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.864C>T	16.37:g.75512863G>A						RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.Y288Y	p.Y288Y	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	1043	-			288					D3DUK3	Silent	SNP	ENST00000332272.4	37	c.864C>T	CCDS10918.1																																																																																				0.657	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		20	78	0	0	0	1	0	20	78				
ADAMTS18	170692	broad.mit.edu	37	16	77401513	77401513	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:77401513T>C	ENST00000282849.5	-	4	1021	c.603A>G	c.(601-603)gtA>gtG	p.V201V	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	201					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTTTGTACAGTACGTGAGGAT	0.527																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(601-603)gtA>gtG		ADAM metallopeptidase with thrombospondin type 1 motif, 18							112.0	98.0	102.0					16																	77401513		2198	4300	6498	SO:0001819	synonymous_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77401513T>C	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.603A>G	16.37:g.77401513T>C						ADAMTS18_ENST00000567121.1_5'UTR	p.V201V	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			4	1021	-			201					Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	c.603A>G	CCDS10926.1																																																																																				0.527	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			22	83	0	0	0	1	0	22	83				
ABHD16B	140701	broad.mit.edu	37	20	62493306	62493306	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:62493306A>G	ENST00000369916.3	+	1	741	c.413A>G	c.(412-414)tAc>tGc	p.Y138C	C20ORF135_ENST00000601296.1_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	138							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						GTGGAGCGCTACCACGGCCGG	0.716																																						ENST00000369916.3																			0				endometrium(2)|kidney(1)|lung(3)	6						c.(412-414)tAc>tGc		abhydrolase domain containing 16B							11.0	14.0	13.0					20																	62493306		2154	4205	6359	SO:0001583	missense	140701						hydrolase activity	g.chr20:62493306A>G		CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"""Abhydrolase domain containing"""	16128	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 135"""	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.413A>G	20.37:g.62493306A>G	ENSP00000358932:p.Tyr138Cys						p.Y138C	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN			1	741	+			138						Missense_Mutation	SNP	ENST00000369916.3	37	c.413A>G	CCDS13539.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.277018	0.40294	.	.	ENSG00000183260	ENST00000369916	T	0.46819	0.86	4.72	3.54	0.40534	.	0.258670	0.32785	U	0.005643	T	0.32645	0.0836	L	0.41236	1.265	0.42048	D	0.991109	B	0.14805	0.011	B	0.17722	0.019	T	0.23368	-1.0190	10	0.34782	T	0.22	-1.2505	3.5292	0.07770	0.699:0.0:0.1046:0.1963	.	138	Q9H3Z7	ABHGB_HUMAN	C	138	ENSP00000358932:Y138C	ENSP00000358932:Y138C	Y	+	2	0	ABHD16B	61963750	0.996000	0.38824	0.990000	0.47175	0.506000	0.33950	3.459000	0.53021	1.759000	0.51996	0.482000	0.46254	TAC		0.716	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1			15	57	0	0	0	1	0	15	57				
TBK1	29110	broad.mit.edu	37	12	64891804	64891804	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:64891804A>G	ENST00000331710.5	+	20	2462	c.2123A>G	c.(2122-2124)aAc>aGc	p.N708S		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	708					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		GCTGAAAATAACCACATTTTA	0.313																																						ENST00000331710.5																			0				breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20						c.(2122-2124)aAc>aGc		TANK-binding kinase 1							72.0	78.0	76.0					12																	64891804		2203	4296	6499	SO:0001583	missense	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64891804A>G	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.2123A>G	12.37:g.64891804A>G	ENSP00000329967:p.Asn708Ser						p.N708S	NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	20	2462	+			708					A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	c.2123A>G	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.980129	0.74474	.	.	ENSG00000183735	ENST00000331710	T	0.70749	-0.51	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.75532	0.3862	L	0.29908	0.895	0.54753	D	0.999987	D	0.63880	0.993	D	0.68192	0.956	T	0.74047	-0.3790	9	.	.	.	-16.0182	16.2858	0.82720	1.0:0.0:0.0:0.0	.	708	Q9UHD2	TBK1_HUMAN	S	708	ENSP00000329967:N708S	.	N	+	2	0	TBK1	63178071	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.473000	0.81007	2.313000	0.78055	0.454000	0.30748	AAC		0.313	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		8	52	0	0	0	1	0	8	52				
HECTD1	25831	broad.mit.edu	37	14	31644179	31644179	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:31644179C>T	ENST00000399332.1	-	4	1029	c.541G>A	c.(541-543)Gat>Aat	p.D181N	HECTD1_ENST00000553700.1_Missense_Mutation_p.D181N	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	181					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AAAGAAGAATCTTGAGGCTCC	0.378																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(541-543)Gat>Aat		HECT domain containing E3 ubiquitin protein ligase 1							96.0	90.0	92.0					14																	31644179		1894	4131	6025	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31644179C>T	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.541G>A	14.37:g.31644179C>T	ENSP00000382269:p.Asp181Asn					HECTD1_ENST00000553700.1_Missense_Mutation_p.D181N	p.D181N	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	4	1029	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		181					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.541G>A	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	36	5.638613	0.96693	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000556224	T;T;T	0.32023	1.47;1.47;1.47	5.43	5.43	0.79202	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56485	0.1988	M	0.71581	2.175	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.56703	-0.7935	10	0.54805	T	0.06	-16.8315	19.3108	0.94187	0.0:1.0:0.0:0.0	.	181	Q9ULT8	HECD1_HUMAN	N	181	ENSP00000450697:D181N;ENSP00000382269:D181N;ENSP00000452015:D181N	ENSP00000261312:D181N	D	-	1	0	HECTD1	30713930	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.439000	0.80444	2.576000	0.86940	0.479000	0.44913	GAT		0.378	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			19	72	0	0	0	1	0	19	72				
ZNFX1	57169	broad.mit.edu	37	20	47881313	47881313	+	Silent	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:47881313C>G	ENST00000396105.1	-	5	2337	c.2091G>C	c.(2089-2091)ctG>ctC	p.L697L	ZNFX1_ENST00000371754.4_Silent_p.L697L|ZNFX1_ENST00000371752.1_Silent_p.L697L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	697							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCTTGTTCCTCAGCTCCCTTA	0.527																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(2089-2091)ctG>ctC		zinc finger, NFX1-type containing 1							173.0	145.0	154.0					20																	47881313		2203	4300	6503	SO:0001819	synonymous_variant	57169						metal ion binding	g.chr20:47881313C>G	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2091G>C	20.37:g.47881313C>G						ZNFX1_ENST00000371754.4_Silent_p.L697L|ZNFX1_ENST00000371752.1_Silent_p.L697L	p.L697L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		5	2337	-			697					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	c.2091G>C	CCDS13417.1																																																																																				0.527	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		48	156	0	0	0	1	0	48	156				
YDJC	150223	broad.mit.edu	37	22	21982747	21982747	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:21982747T>G	ENST00000292778.6	-	5	981	c.932A>C	c.(931-933)gAg>gCg	p.E311A	YDJC_ENST00000398873.3_3'UTR	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN	YdjC homolog (bacterial)	311					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)					Colorectal(54;0.105)					CAGAGTGGGCTCACAGGGGAC	0.622																																						ENST00000292778.6																			0											c.(931-933)gAg>gCg		YdjC homolog (bacterial)							86.0	91.0	89.0					22																	21982747		2203	4300	6503	SO:0001583	missense	150223				carbohydrate metabolic process		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	g.chr22:21982747T>G		CCDS33613.1	22q11.21	2008-02-26			ENSG00000161179	ENSG00000161179			27158	protein-coding gene	gene with protein product						18177738	Standard	XM_005261347		Approved		uc002zvb.2	A8MPS7	OTTHUMG00000150822	ENST00000292778.6:c.932A>C	22.37:g.21982747T>G	ENSP00000292778:p.Glu311Ala					YDJC_ENST00000398873.3_3'UTR	p.E311A	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN			5	981	-	Colorectal(54;0.105)		311					Q2YDT4|Q4V9R7	Missense_Mutation	SNP	ENST00000292778.6	37	c.932A>C	CCDS33613.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.508481	0.44660	.	.	ENSG00000161179	ENST00000292778	T	0.47177	0.85	3.29	1.16	0.20824	.	1.909320	0.03010	N	0.149307	T	0.38825	0.1055	L	0.36672	1.1	0.09310	N	0.999992	B	0.13594	0.008	B	0.14578	0.011	T	0.21895	-1.0232	10	0.46703	T	0.11	.	4.9595	0.14059	0.0:0.2627:0.0:0.7373	.	311	A8MPS7	YDJC_HUMAN	A	311	ENSP00000292778:E311A	ENSP00000292778:E311A	E	-	2	0	YDJC	20312747	0.015000	0.18098	0.021000	0.16686	0.765000	0.43378	0.720000	0.25896	0.195000	0.20347	0.529000	0.55759	GAG		0.622	YDJC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320213.1			8	168	0	0	0	1	0	8	168				
HNF1B	6928	broad.mit.edu	37	17	36070601	36070601	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:36070601G>A	ENST00000225893.4	-	5	1477	c.1116C>T	c.(1114-1116)agC>agT	p.S372S	HNF1B_ENST00000560016.1_Silent_p.S372S|HNF1B_ENST00000427275.2_Silent_p.S346S|HNF1B_ENST00000561193.1_Silent_p.S346S	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	372					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TCACCATGGCGCTGTTGCCAT	0.532																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(1114-1116)agC>agT		HNF1 homeobox B							80.0	70.0	73.0					17																	36070601		2203	4300	6503	SO:0001819	synonymous_variant	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36070601G>A	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1116C>T	17.37:g.36070601G>A						HNF1B_ENST00000427275.2_Silent_p.S346S|HNF1B_ENST00000560016.1_Silent_p.S372S|HNF1B_ENST00000561193.1_Silent_p.S346S	p.S372S	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		5	1477	-		Breast(25;0.00765)|Ovarian(249;0.15)	372					B4DKM3|E0YMJ9	Silent	SNP	ENST00000225893.4	37	c.1116C>T	CCDS11324.1																																																																																				0.532	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		28	70	0	0	0	1	0	28	70				
C14orf93	60686	broad.mit.edu	37	14	23456766	23456766	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23456766T>C	ENST00000299088.6	-	7	1704	c.1275A>G	c.(1273-1275)gaA>gaG	p.E425E	RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000397382.4_Silent_p.E425E|C14orf93_ENST00000341470.4_Silent_p.E425E|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000406429.2_Silent_p.E425E|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397377.1_Silent_p.E245E|C14orf93_ENST00000397379.3_Silent_p.E425E	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	425						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CTGACATCAGTTCCTCTGTCA	0.557																																						ENST00000299088.6																			0				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(1273-1275)gaA>gaG		chromosome 14 open reading frame 93							106.0	98.0	100.0					14																	23456766		2203	4300	6503	SO:0001819	synonymous_variant	60686					extracellular region		g.chr14:23456766T>C	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.1275A>G	14.37:g.23456766T>C						RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000406429.2_Silent_p.E425E|C14orf93_ENST00000397377.1_Silent_p.E245E|C14orf93_ENST00000397379.3_Silent_p.E425E|C14orf93_ENST00000397382.4_Silent_p.E425E|C14orf93_ENST00000341470.4_Silent_p.E425E|RP11-298I3.4_ENST00000555294.1_RNA	p.E425E	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN		GBM - Glioblastoma multiforme(265;0.0127)	7	1704	-	all_cancers(95;3.3e-05)		425					B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Silent	SNP	ENST00000299088.6	37	c.1275A>G	CCDS9583.1																																																																																				0.557	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		5	70	0	0	0	1	0	5	70				
DICER1	23405	broad.mit.edu	37	14	95557552	95557552	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:95557552G>A	ENST00000526495.1	-	27	5806	c.5515C>T	c.(5515-5517)Cgg>Tgg	p.R1839W	DICER1_ENST00000541352.1_Intron|DICER1_ENST00000393063.1_Missense_Mutation_p.R1839W|DICER1_ENST00000343455.3_Missense_Mutation_p.R1839W|DICER1_ENST00000556045.1_Missense_Mutation_p.R737W|DICER1_ENST00000527414.1_Missense_Mutation_p.R1839W|DICER1_ENST00000527416.2_5'UTR			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1839					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ATTAGTGGCCGCATCATGGGA	0.393			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(5515-5517)Cgg>Tgg		dicer 1, ribonuclease type III							163.0	167.0	166.0					14																	95557552		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95557552G>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5515C>T	14.37:g.95557552G>A	ENSP00000437256:p.Arg1839Trp					DICER1_ENST00000556045.1_Missense_Mutation_p.R737W|DICER1_ENST00000343455.3_Missense_Mutation_p.R1839W|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000393063.1_Missense_Mutation_p.R1839W|DICER1_ENST00000527414.1_Missense_Mutation_p.R1839W	p.R1839W			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	27	5806	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1839					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5515C>T	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588411	0.28357	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	5.6	2.7	0.31948	Ribonuclease III (3);	0.162495	0.52532	N	0.000072	T	0.76681	0.4021	L	0.38838	1.175	0.80722	D	1	D;B	0.58268	0.982;0.001	B;B	0.41412	0.356;0.001	T	0.74090	-0.3777	10	0.72032	D	0.01	-6.8712	9.0415	0.36321	0.0703:0.0:0.4893:0.4404	.	737;1839	B3KRG4;Q9UPY3	.;DICER_HUMAN	W	1839;1839;1839;1839;737	ENSP00000343745:R1839W;ENSP00000437256:R1839W;ENSP00000376783:R1839W;ENSP00000435681:R1839W;ENSP00000451041:R737W	ENSP00000343745:R1839W	R	-	1	2	DICER1	94627305	1.000000	0.71417	0.998000	0.56505	0.155000	0.21991	2.895000	0.48648	0.261000	0.21753	-0.182000	0.12963	CGG		0.393	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			16	329	0	0	0	1	0	16	329				
TSKS	60385	broad.mit.edu	37	19	50247606	50247606	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:50247606C>A	ENST00000246801.3	-	8	1325	c.1243G>T	c.(1243-1245)Ggc>Tgc	p.G415C	TSKS_ENST00000358830.3_Missense_Mutation_p.G215C	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	415					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TTCAGTGGGCCCAGCCCCTCC	0.592																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1243-1245)Ggc>Tgc		testis-specific serine kinase substrate							73.0	67.0	69.0					19																	50247606		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50247606C>A	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1243G>T	19.37:g.50247606C>A	ENSP00000246801:p.Gly415Cys					TSKS_ENST00000358830.3_Missense_Mutation_p.G215C	p.G415C	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	8	1325	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	415					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.1243G>T	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066428	0.55539	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.35421	1.31;1.31	4.99	3.95	0.45737	.	0.000000	0.56097	D	0.000037	T	0.43077	0.1231	L	0.29908	0.895	0.35467	D	0.797034	D	0.76494	0.999	D	0.68483	0.958	T	0.53690	-0.8403	10	0.51188	T	0.08	-19.3595	9.5453	0.39277	0.0:0.9041:0.0:0.0959	.	415	Q9UJT2	TSKS_HUMAN	C	415;215	ENSP00000246801:G415C;ENSP00000351691:G215C	ENSP00000246801:G415C	G	-	1	0	TSKS	54939418	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	0.797000	0.26999	1.320000	0.45209	0.555000	0.69702	GGC		0.592	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		21	73	1	0	8.10497e-08	1	8.33977e-08	21	73				
KIF21A	55605	broad.mit.edu	37	12	39745734	39745734	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:39745734G>T	ENST00000361418.5	-	11	1533	c.1518C>A	c.(1516-1518)aaC>aaA	p.N506K	KIF21A_ENST00000541463.2_Missense_Mutation_p.N506K|KIF21A_ENST00000395670.3_Missense_Mutation_p.N506K|KIF21A_ENST00000544797.2_Missense_Mutation_p.N506K|KIF21A_ENST00000361961.3_Missense_Mutation_p.N506K			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	506					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTCTTGTCAAGTTTTTTCGAA	0.353																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(1516-1518)aaC>aaA		kinesin family member 21A							156.0	155.0	156.0					12																	39745734		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39745734G>T	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1518C>A	12.37:g.39745734G>T	ENSP00000354878:p.Asn506Lys					KIF21A_ENST00000361418.5_Missense_Mutation_p.N506K|KIF21A_ENST00000541463.2_Missense_Mutation_p.N506K|KIF21A_ENST00000544797.2_Missense_Mutation_p.N506K|KIF21A_ENST00000361961.3_Missense_Mutation_p.N506K	p.N506K			Q7Z4S6	KI21A_HUMAN			11	1937	-		Lung NSC(34;0.179)|all_lung(34;0.213)	506					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.1518C>A	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343471	0.41498	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.85	4.04	0.47022	.	0.104812	0.41712	D	0.000836	T	0.52256	0.1723	L	0.38175	1.15	0.31206	N	0.699244	B;B;B;B;B	0.30146	0.01;0.191;0.002;0.27;0.0	B;B;B;B;B	0.28638	0.007;0.03;0.005;0.092;0.004	T	0.50651	-0.8803	10	0.11182	T	0.66	.	12.473	0.55797	0.1348:0.0:0.8652:0.0	.	506;506;506;506;506	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	K	506	ENSP00000354851:N506K;ENSP00000379029:N506K;ENSP00000445606:N506K;ENSP00000354878:N506K;ENSP00000438075:N506K	ENSP00000344501:N506K	N	-	3	2	KIF21A	38032001	0.997000	0.39634	0.999000	0.59377	0.972000	0.66771	1.273000	0.33121	0.828000	0.34709	0.655000	0.94253	AAC		0.353	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		30	156	1	0	4.4194e-11	1	4.5893e-11	30	156				
FNIP1	96459	broad.mit.edu	37	5	131007907	131007907	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:131007907A>T	ENST00000510461.1	-	14	2325	c.2230T>A	c.(2230-2232)Tgt>Agt	p.C744S	FNIP1_ENST00000307954.8_Missense_Mutation_p.C699S|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Missense_Mutation_p.C716S	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	744					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GCAGCCTCACAAGAAAATGAA	0.453																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2146-2148)Tgt>Agt		folliculin interacting protein 1							150.0	153.0	152.0					5																	131007907		2203	4300	6503	SO:0001583	missense	96459							g.chr5:131007907A>T	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.2230T>A	5.37:g.131007907A>T	ENSP00000421985:p.Cys744Ser					FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.C699S|FNIP1_ENST00000510461.1_Missense_Mutation_p.C744S	p.C716S	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	13	2145	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.2146T>A	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	A	6.391	0.440343	0.12104	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.12672	2.66;2.66;2.66	5.76	5.76	0.90799	.	.	.	.	.	T	0.09730	0.0239	N	0.16478	0.41	0.80722	D	1	B;B;B	0.22211	0.066;0.066;0.039	B;B;B	0.23018	0.043;0.043;0.027	T	0.24333	-1.0163	9	0.13470	T	0.59	-5.4866	16.087	0.81065	1.0:0.0:0.0:0.0	.	744;716;744	A8K8V8;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	S	716;699;496;744	ENSP00000309266:C716S;ENSP00000310453:C699S;ENSP00000421985:C744S	ENSP00000310453:C699S	C	-	1	0	FNIP1	131035806	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.291000	0.89927	2.202000	0.70862	0.533000	0.62120	TGT		0.453	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		43	136	0	0	0	1	0	43	136				
AKAP10	11216	broad.mit.edu	37	17	19861746	19861746	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:19861746T>C	ENST00000225737.6	-	4	615	c.458A>G	c.(457-459)aAa>aGa	p.K153R	AKAP10_ENST00000395536.3_Missense_Mutation_p.K153R|AKAP10_ENST00000572155.1_5'UTR	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	153	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TAACCAAAATTTCACCAAATG	0.443																																						ENST00000225737.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(457-459)aAa>aGa		A kinase (PRKA) anchor protein 10							79.0	80.0	80.0					17																	19861746		2203	4300	6503	SO:0001583	missense	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19861746T>C	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.458A>G	17.37:g.19861746T>C	ENSP00000225737:p.Lys153Arg					AKAP10_ENST00000572155.1_5'UTR|AKAP10_ENST00000395536.3_Missense_Mutation_p.K153R	p.K153R	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN			4	615	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		153			RGS 1.		B2R650|Q96AJ7	Missense_Mutation	SNP	ENST00000225737.6	37	c.458A>G	CCDS11214.1	.	.	.	.	.	.	.	.	.	.	T	15.36	2.810980	0.50421	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.19669	2.13	6.08	5.0	0.66597	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.044055	0.85682	D	0.000000	T	0.21387	0.0515	L	0.52126	1.63	0.39755	D	0.971943	B;B;B	0.20261	0.008;0.043;0.007	B;B;B	0.16289	0.015;0.01;0.008	T	0.02431	-1.1160	10	0.42905	T	0.14	-16.1542	12.8833	0.58030	0.0:0.0:0.1359:0.8641	.	153;153;153	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	R	153	ENSP00000225737:K153R	ENSP00000225737:K153R	K	-	2	0	AKAP10	19802338	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.451000	0.60047	1.102000	0.41551	0.482000	0.46254	AAA		0.443	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		27	81	0	0	0	1	0	27	81				
CCR2	729230	broad.mit.edu	37	3	46399634	46399634	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:46399634A>G	ENST00000400888.2	+	1	655	c.616A>G	c.(616-618)Agg>Ggg	p.R206G	CCR2_ENST00000445132.2_Missense_Mutation_p.R206G|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000292301.4_Missense_Mutation_p.R206G			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	206					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CACAATAATGAGGAACATTTT	0.458																																						ENST00000292301.4																			0				breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14						c.(616-618)Agg>Ggg		chemokine (C-C motif) receptor 2							240.0	233.0	235.0					3																	46399634		1568	3582	5150	SO:0001583	missense	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399634A>G		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.616A>G	3.37:g.46399634A>G	ENSP00000383681:p.Arg206Gly					CCR2_ENST00000445132.2_Missense_Mutation_p.R206G|CCR2_ENST00000400888.2_Missense_Mutation_p.R206G|CCR2_ENST00000465202.1_3'UTR	p.R206G	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	1101	+			206					A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.616A>G	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.626831	0.46840	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000400888	T;T;T	0.71698	-0.59;-0.59;-0.59	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.127303	0.53938	D	0.000057	T	0.79299	0.4422	M	0.73962	2.25	0.31144	N	0.706223	P;B	0.47034	0.889;0.404	P;B	0.52424	0.698;0.348	T	0.82906	-0.0225	10	0.87932	D	0	.	15.0728	0.72053	1.0:0.0:0.0:0.0	.	206;206	P41597;Q4VBL2	CCR2_HUMAN;.	G	206	ENSP00000399285:R206G;ENSP00000292301:R206G;ENSP00000383681:R206G	ENSP00000292301:R206G	R	+	1	2	CCR2	46374638	0.739000	0.28196	0.965000	0.40720	0.044000	0.14063	4.163000	0.58183	2.032000	0.59987	0.528000	0.53228	AGG		0.458	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		88	264	0	0	0	1	0	88	264				
NIN	51199	broad.mit.edu	37	14	51259517	51259517	+	Silent	SNP	G	G	A	rs548813259		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:51259517G>A	ENST00000382041.3	-	5	538	c.348C>T	c.(346-348)tcC>tcT	p.S116S	NIN_ENST00000530997.2_Silent_p.S116S|NIN_ENST00000486200.1_5'UTR|NIN_ENST00000245441.5_Silent_p.S116S|NIN_ENST00000324330.9_Silent_p.S116S|NIN_ENST00000382043.4_Silent_p.S116S|NIN_ENST00000453196.1_Silent_p.S116S|NIN_ENST00000389868.3_Silent_p.S116S	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	116					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ACTCCTCCACGGACTCTTGGA	0.547			T	PDGFRB	MPD								G|||	1	0.000199681	0.0	0.0	5008	,	,		19965	0.001		0.0	False		,,,				2504	0.0					ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(346-348)tcC>tcT		ninein (GSK3B interacting protein)							92.0	78.0	83.0					14																	51259517		2203	4300	6503	SO:0001819	synonymous_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51259517G>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.348C>T	14.37:g.51259517G>A						NIN_ENST00000486200.1_5'UTR|NIN_ENST00000382043.4_Silent_p.S116S|NIN_ENST00000530997.2_Silent_p.S116S|NIN_ENST00000453196.1_Silent_p.S116S|NIN_ENST00000324330.9_Silent_p.S116S|NIN_ENST00000389868.3_Silent_p.S116S|NIN_ENST00000382041.3_Silent_p.S116S	p.S116S	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			5	538	-	all_epithelial(31;0.00244)|Breast(41;0.127)		116					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	c.348C>T	CCDS32079.1																																																																																				0.547	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		29	77	0	0	0	1	0	29	77				
SIMC1	375484	broad.mit.edu	37	5	175717628	175717628	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:175717628A>G	ENST00000443967.1	+	4	1451	c.1044A>G	c.(1042-1044)ccA>ccG	p.P348P	SIMC1_ENST00000429602.2_Silent_p.P367P|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000430704.2_Intron			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	348	Pro-rich.						SUMO polymer binding (GO:0032184)										CTCACTTACCAGGAGACAGGC	0.527																																						ENST00000443967.1																			0											c.(1042-1044)ccA>ccG		SUMO-interacting motifs containing 1							288.0	281.0	283.0					5																	175717628		2203	4300	6503	SO:0001819	synonymous_variant	375484							g.chr5:175717628A>G	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1044A>G	5.37:g.175717628A>G						SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000429602.2_Silent_p.P367P	p.P348P							4	1451	+								J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Silent	SNP	ENST00000443967.1	37	c.1044A>G																																																																																					0.527	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		32	487	0	0	0	1	0	32	487				
NDC1	55706	broad.mit.edu	37	1	54298225	54298225	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:54298225T>C	ENST00000371429.3	-	3	816	c.218A>G	c.(217-219)tAc>tGc	p.Y73C	NDC1_ENST00000234725.8_5'UTR|NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000540001.1_Missense_Mutation_p.Y73C|NDC1_ENST00000537333.1_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	73					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										CAGCAGGAAGTAAAAGATTAC	0.338																																						ENST00000371429.3																			0											c.(217-219)tAc>tGc		NDC1 transmembrane nucleoporin							59.0	61.0	60.0					1																	54298225		2203	4298	6501	SO:0001583	missense	55706							g.chr1:54298225T>C	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.218A>G	1.37:g.54298225T>C	ENSP00000360483:p.Tyr73Cys					NDC1_ENST00000540001.1_Missense_Mutation_p.Y73C|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000234725.8_5'UTR	p.Y73C	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3					3	816	-								B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	ENST00000371429.3	37	c.218A>G	CCDS583.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.982417	0.34942	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000540001	T;T	0.41065	1.01;1.01	5.84	4.72	0.59763	.	0.271724	0.43110	D	0.000606	T	0.17450	0.0419	N	0.03324	-0.35	0.24373	N	0.994821	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.04565	-1.0942	10	0.36615	T	0.2	.	4.7699	0.13150	0.0:0.2584:0.0:0.7416	.	73;73	B4DHA3;Q9BTX1	.;NDC1_HUMAN	C	73	ENSP00000360483:Y73C;ENSP00000440873:Y73C	ENSP00000353684:Y73C	Y	-	2	0	TMEM48	54070813	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.651000	0.46674	2.240000	0.73641	0.529000	0.55759	TAC		0.338	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		12	34	0	0	0	1	0	12	34				
CCDC8	83987	broad.mit.edu	37	19	46914994	46914994	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:46914994G>A	ENST00000307522.3	-	1	1847	c.1074C>T	c.(1072-1074)aaC>aaT	p.N358N		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	358					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTCCCTCTGGTTATCTGCAG	0.587																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1072-1074)aaC>aaT		coiled-coil domain containing 8							110.0	114.0	113.0					19																	46914994		2203	4300	6503	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46914994G>A	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1074C>T	19.37:g.46914994G>A							p.N358N	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1847	-			358					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.1074C>T	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	G	3.655	-0.070787	0.07228	.	.	ENSG00000169515	ENST00000540252	.	.	.	3.36	-6.71	0.01760	.	.	.	.	.	T	0.31451	0.0797	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.43343	-0.9397	5	0.56958	D	0.05	-0.0528	4.9413	0.13967	0.3358:0.0:0.4408:0.2233	.	.	.	.	I	205	.	ENSP00000441180:T205I	T	-	2	0	CCDC8	51606834	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.986000	0.03747	-1.548000	0.01712	-0.772000	0.03388	ACC		0.587	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		37	281	0	0	0	1	0	37	281				
PASK	23178	broad.mit.edu	37	2	242046021	242046021	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:242046021C>T	ENST00000405260.1	-	18	4630	c.3932G>A	c.(3931-3933)gGc>gAc	p.G1311D	PASK_ENST00000358649.4_Missense_Mutation_p.G1318D|PASK_ENST00000544142.1_Missense_Mutation_p.G1125D|PASK_ENST00000539818.1_Missense_Mutation_p.G1095D|PASK_ENST00000234040.4_Missense_Mutation_p.G1311D|PASK_ENST00000475666.1_5'Flank	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1311					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		ATGCAAACAGCCTTGGCCATT	0.572																																						ENST00000405260.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(3931-3933)gGc>gAc		PAS domain containing serine/threonine kinase							112.0	126.0	121.0					2																	242046021		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242046021C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3932G>A	2.37:g.242046021C>T	ENSP00000384016:p.Gly1311Asp					PASK_ENST00000234040.4_Missense_Mutation_p.G1311D|PASK_ENST00000358649.4_Missense_Mutation_p.G1318D|PASK_ENST00000544142.1_Missense_Mutation_p.G1125D|PASK_ENST00000539818.1_Missense_Mutation_p.G1095D	p.G1311D	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	18	4630	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1311					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.3932G>A	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	0.505	-0.869169	0.02570	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818	T;T;T;T;T	0.66280	-0.2;-0.19;-0.2;-0.15;-0.19	2.02	-3.9	0.04181	.	.	.	.	.	T	0.34048	0.0884	N	0.22421	0.69	0.09310	N	1	B;P;B;B	0.34684	0.06;0.463;0.1;0.06	B;B;B;B	0.32864	0.004;0.154;0.009;0.004	T	0.26503	-1.0101	9	0.16420	T	0.52	.	0.0925	0.00041	0.2469:0.2567:0.1913:0.3052	.	1276;1125;1318;1311	B7Z7R6;F5GYW7;Q96RG2-2;Q96RG2	.;.;.;PASK_HUMAN	D	1311;1125;1311;1318;1095	ENSP00000234040:G1311D;ENSP00000441374:G1125D;ENSP00000384016:G1311D;ENSP00000351475:G1318D;ENSP00000443083:G1095D	ENSP00000234040:G1311D	G	-	2	0	PASK	241694694	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.765000	0.04730	-1.089000	0.03073	0.557000	0.71058	GGC		0.572	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		11	292	0	0	0	1	0	11	292				
CHAC1	79094	broad.mit.edu	37	15	41247586	41247586	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:41247586G>A	ENST00000446533.3	+	3	718	c.409G>A	c.(409-411)Gtg>Atg	p.V137M	CHAC1_ENST00000487220.1_5'UTR|CHAC1_ENST00000444189.2_Missense_Mutation_p.V137M	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	137					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein processing (GO:0010955)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|trans-Golgi network (GO:0005802)	Notch binding (GO:0005112)			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CACTTGGGGCGTGGCATACCA	0.582																																						ENST00000446533.3																			0				endometrium(1)|large_intestine(1)|skin(1)	3						c.(409-411)Gtg>Atg		ChaC, cation transport regulator homolog 1 (E. coli)							107.0	85.0	92.0					15																	41247586		2203	4300	6503	SO:0001583	missense	79094				apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding	g.chr15:41247586G>A	BC019625	CCDS10070.2, CCDS45233.1	15q15.1	2013-09-12	2006-09-12		ENSG00000128965	ENSG00000128965			28680	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 1"""	614587	"""ChaC, cation transport regulator-like 1 (E. coli)"""			23070364	Standard	NM_024111		Approved	MGC4504	uc001znh.2	Q9BUX1	OTTHUMG00000130208	ENST00000446533.3:c.409G>A	15.37:g.41247586G>A	ENSP00000398105:p.Val137Met					CHAC1_ENST00000487220.1_5'UTR|CHAC1_ENST00000444189.2_Missense_Mutation_p.V137M	p.V137M	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)	3	718	+		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	137					Q0VIA0	Missense_Mutation	SNP	ENST00000446533.3	37	c.409G>A	CCDS10070.2	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290206	0.40494	.	.	ENSG00000128965	ENST00000446533;ENST00000444189	T;T	0.50548	0.74;0.74	5.5	4.59	0.56863	Butirosin biosynthesis, BtrG-like (1);	0.239594	0.42420	D	0.000707	T	0.56202	0.1969	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.67382	0.951;0.701	T	0.52132	-0.8616	10	0.28530	T	0.3	-13.775	10.3599	0.43987	0.1471:0.0:0.8529:0.0	.	137;137	Q9BUX1-2;Q9BUX1	.;CHAC1_HUMAN	M	137	ENSP00000398105:V137M;ENSP00000395466:V137M	ENSP00000395466:V137M	V	+	1	0	CHAC1	39034878	1.000000	0.71417	0.996000	0.52242	0.008000	0.06430	6.505000	0.73708	1.556000	0.49512	0.655000	0.94253	GTG		0.582	CHAC1-001	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252526.3	NM_024111		31	81	0	0	0	1	0	31	81				
GPR128	84873	broad.mit.edu	37	3	100362380	100362380	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:100362380T>C	ENST00000273352.3	+	8	1117	c.849T>C	c.(847-849)agT>agC	p.S283S	GPR128_ENST00000475887.1_Intron|SNORA31_ENST00000517180.1_RNA	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	283					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GAGCTAGCAGTTCTCTAGTTT	0.373																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(847-849)agT>agC		G protein-coupled receptor 128							105.0	102.0	103.0					3																	100362380		2203	4300	6503	SO:0001819	synonymous_variant	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100362380T>C	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.849T>C	3.37:g.100362380T>C						GPR128_ENST00000475887.1_Intron	p.S283S	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			8	1117	+			283					Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	c.849T>C	CCDS2938.1																																																																																				0.373	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			16	46	0	0	0	1	0	16	46				
DST	667	broad.mit.edu	37	6	56765257	56765257	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:56765257A>G	ENST00000370754.5	-	3	378	c.379T>C	c.(379-381)Ttt>Ctt	p.F127L				Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGTGATAAAATTCTGGCTGG	0.418																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(379-381)Ttt>Ctt		dystonin							194.0	185.0	188.0					6																	56765257		1568	3582	5150	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56765257A>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370754.5:c.379T>C	6.37:g.56765257A>G	ENSP00000359790:p.Phe127Leu						p.F127L			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		3	378	-	Lung NSC(77;0.103)		0			Actin-binding.|CH 1.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370754.5	37	c.379T>C		.	.	.	.	.	.	.	.	.	.	A	18.41	3.617960	0.66787	.	.	ENSG00000151914	ENST00000370754;ENST00000449297	T;D	0.95885	-1.14;-3.84	4.8	4.8	0.61643	.	.	.	.	.	D	0.96009	0.8700	.	.	.	0.21220	N	0.999751	P	0.52842	0.956	P	0.62184	0.899	D	0.95147	0.8269	7	0.33141	T	0.24	.	14.3758	0.66874	1.0:0.0:0.0:0.0	.	127	E9PEB9	.	L	127	ENSP00000359790:F127L;ENSP00000393082:F127L	ENSP00000359790:F127L	F	-	1	0	DST	56873216	1.000000	0.71417	0.974000	0.42286	0.976000	0.68499	7.322000	0.79097	1.792000	0.52537	0.374000	0.22700	TTT		0.418	DST-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001723		12	353	0	0	0	1	0	12	353				
FBXO30	84085	broad.mit.edu	37	6	146126460	146126460	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:146126460C>T	ENST00000237281.4	-	2	1248	c.1082G>A	c.(1081-1083)gGt>gAt	p.G361D		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	361							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TTCACCTTCACCTTCATCATC	0.423																																						ENST00000237281.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1081-1083)gGt>gAt		F-box protein 30							144.0	135.0	138.0					6																	146126460		2203	4300	6503	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146126460C>T	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1082G>A	6.37:g.146126460C>T	ENSP00000237281:p.Gly361Asp						p.G361D	NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	1248	-		Ovarian(120;0.0776)	361					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.1082G>A	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.650596	0.00785	.	.	ENSG00000118496	ENST00000237281	T	0.16196	2.36	5.46	3.04	0.35103	.	0.567816	0.19354	N	0.116329	T	0.01421	0.0046	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47686	-0.9098	10	0.07325	T	0.83	-5.4217	9.5979	0.39584	0.0:0.2056:0.0:0.7944	.	361	Q8TB52	FBX30_HUMAN	D	361	ENSP00000237281:G361D	ENSP00000237281:G361D	G	-	2	0	FBXO30	146168153	0.087000	0.21565	0.282000	0.24776	0.747000	0.42532	0.133000	0.15912	1.018000	0.39521	-0.238000	0.12139	GGT		0.423	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			21	105	0	0	0	1	0	21	105				
HSD3B7	80270	broad.mit.edu	37	16	30999363	30999363	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30999363G>A	ENST00000297679.5	+	7	1062	c.969G>A	c.(967-969)acG>acA	p.T323T	AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	323					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACCCCTACACGCTGGCCGTGG	0.642																																						ENST00000297679.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(967-969)acG>acA		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7							50.0	47.0	48.0					16																	30999363		2197	4300	6497	SO:0001819	synonymous_variant	80270				bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	g.chr16:30999363G>A	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.969G>A	16.37:g.30999363G>A						HSD3B7_ENST00000353250.5_3'UTR|HSD3B7_ENST00000262520.6_3'UTR	p.T323T	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN			7	1062	+			323					Q96M28|Q9BSN9	Silent	SNP	ENST00000297679.5	37	c.969G>A	CCDS10698.1																																																																																				0.642	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			20	60	0	0	0	1	0	20	60				
NPY	4852	broad.mit.edu	37	7	24324889	24324889	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:24324889C>T	ENST00000407573.1	+	3	320	c.30C>T	c.(28-30)tcC>tcT	p.S10S	NPY_ENST00000405982.1_Silent_p.S10S|NPY_ENST00000242152.2_Silent_p.S10S			P01303	NPY_HUMAN	neuropeptide Y	10					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						TGGGGCTGTCCGGACTGACCC	0.677																																						ENST00000407573.1																			0				breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						c.(28-30)tcC>tcT		neuropeptide Y							94.0	80.0	85.0					7																	24324889		2203	4300	6503	SO:0001819	synonymous_variant	4852				adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	g.chr7:24324889C>T	K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.30C>T	7.37:g.24324889C>T						NPY_ENST00000242152.2_Silent_p.S10S|NPY_ENST00000405982.1_Silent_p.S10S	p.S10S			P01303	NPY_HUMAN			3	320	+			10						Silent	SNP	ENST00000407573.1	37	c.30C>T	CCDS5387.1																																																																																				0.677	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326748.1	NM_000905		19	84	0	0	0	1	0	19	84				
NHLRC2	374354	broad.mit.edu	37	10	115668258	115668258	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:115668258G>A	ENST00000369301.3	+	11	2356	c.2144G>A	c.(2143-2145)gGt>gAt	p.G715D		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	715										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ACACAGCAAGGTTGCATAGCT	0.448																																						ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(2143-2145)gGt>gAt		NHL repeat containing 2							89.0	81.0	84.0					10																	115668258		2203	4300	6503	SO:0001583	missense	374354				cell redox homeostasis			g.chr10:115668258G>A	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.2144G>A	10.37:g.115668258G>A	ENSP00000358307:p.Gly715Asp						p.G715D	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	11	2356	+			715					Q8N1H1|Q8N5A6	Missense_Mutation	SNP	ENST00000369301.3	37	c.2144G>A	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472557	0.43942	.	.	ENSG00000196865	ENST00000369301	T	0.46819	0.86	5.68	1.74	0.24563	.	0.750787	0.13232	N	0.403526	T	0.24084	0.0583	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.24190	-1.0167	10	0.14252	T	0.57	-0.1409	6.226	0.20708	0.2188:0.138:0.6433:0.0	.	715	Q8NBF2	NHLC2_HUMAN	D	715	ENSP00000358307:G715D	ENSP00000358307:G715D	G	+	2	0	NHLRC2	115658248	0.001000	0.12720	0.001000	0.08648	0.567000	0.35839	-0.159000	0.10056	0.068000	0.16574	0.591000	0.81541	GGT		0.448	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		16	56	0	0	0	1	0	16	56				
SIPA1L1	26037	broad.mit.edu	37	14	72139141	72139141	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:72139141A>G	ENST00000555818.1	+	9	3254	c.2906A>G	c.(2905-2907)aAc>aGc	p.N969S	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.N969S|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.N444S|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.N969S	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	969	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTCCATGTCAACTATGAGGGC	0.527																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(2905-2907)aAc>aGc		signal-induced proliferation-associated 1 like 1							122.0	94.0	104.0					14																	72139141		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72139141A>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2906A>G	14.37:g.72139141A>G	ENSP00000450832:p.Asn969Ser					SIPA1L1_ENST00000358550.2_Missense_Mutation_p.N969S|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.N969S|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.N444S	p.N969S	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	9	3254	+			969			PDZ.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.2906A>G	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.310491	0.81358	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.41065	1.01;1.01;1.01;1.81	5.77	5.77	0.91146	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	L	0.54323	1.7	0.80722	D	1	D;B;D;D;D	0.76494	0.999;0.255;0.994;0.966;0.993	D;B;D;P;D	0.79784	0.993;0.108;0.945;0.881;0.956	T	0.60929	-0.7165	10	0.52906	T	0.07	-42.7681	16.0957	0.81123	1.0:0.0:0.0:0.0	.	444;969;444;969;969	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	S	969;969;969;444	ENSP00000370630:N969S;ENSP00000450832:N969S;ENSP00000351352:N969S;ENSP00000440682:N444S	ENSP00000351352:N969S	N	+	2	0	SIPA1L1	71208894	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.233000	0.95337	2.199000	0.70637	0.533000	0.62120	AAC		0.527	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		30	73	0	0	0	1	0	30	73				
NTN1	9423	broad.mit.edu	37	17	9066277	9066277	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:9066277G>A	ENST00000173229.2	+	3	1273	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	NTN1_ENST00000538852.1_Missense_Mutation_p.R389H|NTN1_ENST00000546090.1_Missense_Mutation_p.R389H	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	389	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						GGCTACTACCGCGACATGGGC	0.662																																						ENST00000173229.2																		NTN1/ACLY(2)	0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						c.(1165-1167)cGc>cAc		netrin 1							33.0	25.0	28.0					17																	9066277		2203	4300	6503	SO:0001583	missense	9423				apoptosis|axon guidance		protein binding	g.chr17:9066277G>A	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1166G>A	17.37:g.9066277G>A	ENSP00000173229:p.Arg389His					NTN1_ENST00000538852.1_Missense_Mutation_p.R389H|NTN1_ENST00000546090.1_Missense_Mutation_p.R389H	p.R389H	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN			3	1273	+			389			Laminin EGF-like 2.		E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	c.1166G>A	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379134	0.95945	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090;ENST00000436734	T;T;T;T	0.64085	-0.08;-0.08;-0.08;2.46	4.89	4.89	0.63831	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.84247	0.5430	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88058	0.2792	10	0.62326	D	0.03	.	18.4101	0.90549	0.0:0.0:1.0:0.0	.	389	O95631	NET1_HUMAN	H	389;389;389;9	ENSP00000173229:R389H;ENSP00000443259:R389H;ENSP00000441611:R389H;ENSP00000389375:R9H	ENSP00000173229:R389H	R	+	2	0	NTN1	9007002	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.365000	0.97139	2.437000	0.82529	0.650000	0.86243	CGC		0.662	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1			9	18	0	0	0	1	0	9	18				
UBN2	254048	broad.mit.edu	37	7	138968955	138968955	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:138968955A>G	ENST00000473989.3	+	15	3304	c.3304A>G	c.(3304-3306)Agc>Ggc	p.S1102G	UBN2_ENST00000288561.8_Missense_Mutation_p.S1019G	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1102	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TGCCCAGGGTAGCCACTCCAG	0.478																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(3055-3057)Agc>Ggc		ubinuclein 2							78.0	85.0	82.0					7																	138968955		2036	4187	6223	SO:0001583	missense	254048							g.chr7:138968955A>G	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3304A>G	7.37:g.138968955A>G	ENSP00000418648:p.Ser1102Gly					UBN2_ENST00000473989.2_Missense_Mutation_p.S1102G	p.S1019G	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			15	3304	+			1102			Ser-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.3055A>G	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	A	16.02	3.005398	0.54254	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.38887	1.11;1.34	5.51	3.11	0.35812	.	0.336350	0.32703	N	0.005758	T	0.46833	0.1413	L	0.40543	1.245	0.30226	N	0.796309	D	0.54964	0.969	D	0.63381	0.914	T	0.43718	-0.9374	10	0.46703	T	0.11	0.0526	6.4016	0.21642	0.7867:0.0:0.0739:0.1394	.	1102	Q6ZU65	UBN2_HUMAN	G	1102;1019	ENSP00000418648:S1102G;ENSP00000288561:S1019G	ENSP00000288561:S1019G	S	+	1	0	UBN2	138619495	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.846000	0.39289	0.457000	0.26962	0.455000	0.32223	AGC		0.478	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		6	174	0	0	0	1	0	6	174				
JMJD7	100137047	broad.mit.edu	37	15	42129290	42129290	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:42129290A>G	ENST00000397299.4	+	8	927	c.887A>G	c.(886-888)tAc>tGc	p.Y296C	JMJD7-PLA2G4B_ENST00000476036.1_Intron|PLA2G4B_ENST00000458483.1_5'Flank|JMJD7_ENST00000408047.1_Missense_Mutation_p.Y197C|PLA2G4B_ENST00000452633.1_5'Flank|JMJD7-PLA2G4B_ENST00000382448.4_Intron|JMJD7-PLA2G4B_ENST00000342159.4_Intron|PLA2G4B_ENST00000542534.2_Intron	NM_001114632.1	NP_001108104.1	P0C870	JMJD7_HUMAN	jumonji domain containing 7	296	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.									NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	8						GACATGGAATACGACCTCAAG	0.552																																						ENST00000542534.1																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(886-888)tAc>tGc									59.0	53.0	55.0					15																	42129290		1568	3582	5150	SO:0001583	missense	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42129290A>G		CCDS45240.1	15q15.1	2011-02-10			ENSG00000243789	ENSG00000243789			34397	protein-coding gene	gene with protein product							Standard	NM_001114632		Approved			P0C870	OTTHUMG00000156810	ENST00000397299.4:c.887A>G	15.37:g.42129290A>G	ENSP00000380467:p.Tyr296Cys					JMJD7_ENST00000408047.1_Missense_Mutation_p.Y197C|JMJD7-PLA2G4B_ENST00000476036.1_Intron|JMJD7_ENST00000397299.4_Missense_Mutation_p.Y296C|JMJD7-PLA2G4B_ENST00000382448.4_Intron|JMJD7-PLA2G4B_ENST00000342159.4_Intron	p.Y296C	NM_001114632.1	NP_001108104.1	P0C869	PA24B_HUMAN			8	927	+			0			PLA2c.		A5D6V5|O95712|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000397299.4	37	c.887A>G	CCDS45240.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.026084	0.75390	.	.	ENSG00000243789;ENSG00000243789;ENSG00000243789;ENSG00000168970;ENSG00000168970	ENST00000397299;ENST00000408047;ENST00000405106;ENST00000542534;ENST00000335032	T;T;T	0.71341	-0.56;1.89;-0.56	5.3	4.1	0.47936	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	.	.	.	.	D	0.82370	0.5022	M	0.81497	2.545	0.48571	D	0.999677	D	0.89917	1.0	D	0.74348	0.983	D	0.84211	0.0456	9	0.72032	D	0.01	.	10.5285	0.44963	0.8551:0.0:0.0:0.1449	.	296	P0C870	JMJD7_HUMAN	C	296;197;197;296;216	ENSP00000380467:Y296C;ENSP00000384174:Y197C;ENSP00000441905:Y296C	ENSP00000380467:Y296C	Y	+	2	0	JMJD7-PLA2G4B;JMJD7	39916582	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	4.527000	0.60573	2.130000	0.65690	0.533000	0.62120	TAC		0.552	JMJD7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326082.1	NM_001114632		14	23	0	0	0	1	0	14	23				
IGFBP2	3485	broad.mit.edu	37	2	217498647	217498647	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:217498647G>A	ENST00000233809.4	+	1	530	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_000597.2	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	134	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of activated T cell proliferation (GO:0042104)|regulation of cell growth (GO:0001558)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		TGTGAGAAGCGCCGGGACGCC	0.682																																						ENST00000233809.4																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(400-402)cGc>cAc		insulin-like growth factor binding protein 2, 36kDa							7.0	8.0	8.0					2																	217498647		1796	3842	5638	SO:0001583	missense	3485				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding	g.chr2:217498647G>A		CCDS42815.1	2q35	2014-09-16	2002-08-29		ENSG00000115457	ENSG00000115457			5471	protein-coding gene	gene with protein product		146731	"""insulin-like growth factor binding protein 2 (36kD)"""	IBP2		1697583	Standard	NM_000597		Approved		uc021vwn.1	P18065	OTTHUMG00000155341	ENST00000233809.4:c.401G>A	2.37:g.217498647G>A	ENSP00000233809:p.Arg134His						p.R134H	NM_000597.2	NP_000588.2	P18065	IBP2_HUMAN		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)	1	530	+		Renal(323;0.0458)	134			IGFBP N-terminal.		Q14619|Q9UCL3	Missense_Mutation	SNP	ENST00000233809.4	37	c.401G>A	CCDS42815.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127316	0.37533	.	.	ENSG00000115457	ENST00000233809	T	0.15487	2.42	4.55	-5.24	0.02789	Insulin-like growth factor-binding protein, IGFBP (1);Growth factor, receptor (1);	3.466550	0.00995	U	0.003589	T	0.08358	0.0208	N	0.04508	-0.205	0.09310	N	0.999997	B;B	0.16166	0.016;0.016	B;B	0.14023	0.01;0.003	T	0.34700	-0.9818	10	0.46703	T	0.11	-6.8808	8.5835	0.33644	0.0896:0.0:0.2295:0.6809	.	168;134	Q59FF1;P18065	.;IBP2_HUMAN	H	134	ENSP00000233809:R134H	ENSP00000233809:R134H	R	+	2	0	IGFBP2	217206892	0.000000	0.05858	0.000000	0.03702	0.867000	0.49689	-0.578000	0.05841	-0.773000	0.04596	-0.493000	0.04662	CGC		0.682	IGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339540.1	NM_000597		4	7	0	0	0	1	0	4	7				
YLPM1	56252	broad.mit.edu	37	14	75265091	75265091	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:75265091A>G	ENST00000325680.7	+	5	3215	c.3091A>G	c.(3091-3093)Aca>Gca	p.T1031A	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.T836A	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	836	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AATGGAAGACACACGGGATAA	0.488																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(3091-3093)Aca>Gca		YLP motif containing 1							77.0	78.0	77.0					14																	75265091		1962	4142	6104	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75265091A>G	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3091A>G	14.37:g.75265091A>G	ENSP00000324463:p.Thr1031Ala					YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.T836A	p.T1031A	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	3215	+			836			Arg-rich.		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	c.3091A>G	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	A	6.883	0.532343	0.13127	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.85	0.407	0.16371	.	0.665019	0.14800	N	0.297703	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31166	-0.9953	9	0.08381	T	0.77	0.4281	5.0148	0.14330	0.4246:0.0:0.1284:0.447	.	1031	P49750-4	.	A	1031;836;744	.	ENSP00000238571:T836A	T	+	1	0	YLPM1	74334844	0.000000	0.05858	0.753000	0.31225	0.965000	0.64279	-0.013000	0.12678	-0.166000	0.10890	0.523000	0.50628	ACA		0.488	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		45	131	0	0	0	1	0	45	131				
TMTC2	160335	broad.mit.edu	37	12	83358812	83358812	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:83358812T>C	ENST00000321196.3	+	5	2315	c.1608T>C	c.(1606-1608)ctT>ctC	p.L536L	TMTC2_ENST00000548305.1_Silent_p.L536L|TMTC2_ENST00000549919.1_Silent_p.L530L	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	536					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GAGGGCTACTTCTCCAGGAGA	0.343																																						ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(1588-1590)ctT>ctC		transmembrane and tetratricopeptide repeat containing 2							84.0	88.0	87.0					12																	83358812		2203	4299	6502	SO:0001819	synonymous_variant	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83358812T>C	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1608T>C	12.37:g.83358812T>C						TMTC2_ENST00000548305.1_Silent_p.L536L|TMTC2_ENST00000321196.3_Silent_p.L536L	p.L530L			Q8N394	TMTC2_HUMAN			6	3395	+			536					B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	37	c.1590T>C	CCDS9025.1																																																																																				0.343	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		22	70	0	0	0	1	0	22	70				
UBA52	7311	broad.mit.edu	37	19	18685871	18685871	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:18685871T>C	ENST00000442744.2	+	5	356	c.298T>C	c.(298-300)Tat>Cat	p.Y100H	UBA52_ENST00000596273.1_Missense_Mutation_p.Y100H|UBA52_ENST00000597451.1_Missense_Mutation_p.Y100H|UBA52_ENST00000599551.1_Missense_Mutation_p.Y100H|UBA52_ENST00000595683.1_Missense_Mutation_p.Y100H|UBA52_ENST00000596304.1_Missense_Mutation_p.Y100H|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000595158.1_Missense_Mutation_p.Y100H|UBA52_ENST00000430157.2_Missense_Mutation_p.Y100H|UBA52_ENST00000598780.1_Missense_Mutation_p.Y100H|UBA52_ENST00000599595.1_Missense_Mutation_p.Y100H	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	100					activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)	3						GTGCAGGTGCTATGCTCGCCT	0.582																																						ENST00000442744.2																			0				endometrium(1)|large_intestine(2)	3						c.(298-300)Tat>Cat		ubiquitin A-52 residue ribosomal protein fusion product 1							109.0	92.0	98.0					19																	18685871		2203	4300	6503	SO:0001583	missense	7311				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome	g.chr19:18685871T>C		CCDS12382.1	19p13.1-p12	2011-04-06			ENSG00000221983	ENSG00000221983		"""L ribosomal proteins"""	12458	protein-coding gene	gene with protein product	"""ribosomal protein L40"", ""ubiquitin-52 amino acid fusion protein"", ""ubiquitin carboxyl extension protein 52"", ""60S ribosomal protein L40"", ""ubiquitin-CEP52"""	191321				8188300	Standard	XM_005260051		Approved	RPL40, CEP52, HUBCEP52, MGC57125, MGC126879, MGC126881, L40	uc002njs.3	P62987		ENST00000442744.2:c.298T>C	19.37:g.18685871T>C	ENSP00000388107:p.Tyr100His					UBA52_ENST00000595683.1_Missense_Mutation_p.Y100H|UBA52_ENST00000599595.1_Missense_Mutation_p.Y100H|UBA52_ENST00000597451.1_Missense_Mutation_p.Y100H|UBA52_ENST00000598780.1_Missense_Mutation_p.Y100H|UBA52_ENST00000595158.1_Missense_Mutation_p.Y100H|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000599551.1_Missense_Mutation_p.Y100H|UBA52_ENST00000596304.1_Missense_Mutation_p.Y100H|UBA52_ENST00000596273.1_Missense_Mutation_p.Y100H|UBA52_ENST00000430157.2_Missense_Mutation_p.Y100H	p.Y100H	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN			5	356	+			100					P02248|P02249|P02250|P14793|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000442744.2	37	c.298T>C	CCDS12382.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754539	0.69648	.	.	ENSG00000221983	ENST00000442744;ENST00000430157	T;T	0.77229	-1.08;-1.08	4.73	4.73	0.59995	.	0.144192	0.49305	D	0.000149	D	0.85375	0.5682	M	0.90252	3.1	0.54753	D	0.999988	P	0.52842	0.956	P	0.51101	0.659	D	0.88377	0.2999	10	0.87932	D	0	-11.3822	12.1397	0.53991	0.0:0.0:0.0:1.0	.	100	P62987	RL40_HUMAN	H	100	ENSP00000388107:Y100H;ENSP00000396910:Y100H	ENSP00000396910:Y100H	Y	+	1	0	UBA52	18546871	1.000000	0.71417	0.954000	0.39281	0.511000	0.34104	7.567000	0.82357	1.756000	0.51951	0.379000	0.24179	TAT		0.582	UBA52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465117.2	NM_003333		12	114	0	0	0	1	0	12	114				
ZMYM6	9204	broad.mit.edu	37	1	35484929	35484929	+	Intron	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:35484929A>G	ENST00000357182.4	-	4	656				ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000317538.5_Silent_p.F151F|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000373333.1_Silent_p.F151F|ZMYM6_ENST00000373340.2_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6						cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AGGTAAAGTAAAAAGGGATGT	0.358																																						ENST00000317538.5																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(451-453)ttT>ttC		zinc finger, MYM-type 6							82.0	84.0	83.0					1																	35484929		2203	4300	6503	SO:0001627	intron_variant	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35484929A>G	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.428+24T>C	1.37:g.35484929A>G						ZMYM6_ENST00000373333.1_Silent_p.F151F|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000357182.4_Intron|ZMYM6_ENST00000373340.2_Intron	p.F151F			O95789	ZMYM6_HUMAN			4	617	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	331					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Silent	SNP	ENST00000357182.4	37	c.453T>C	CCDS387.2																																																																																				0.358	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		22	80	0	0	0	1	0	22	80				
EEF1DP3	196549	broad.mit.edu	37	13	32527481	32527481	+	RNA	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:32527481G>A	ENST00000428783.1	+	0	1181							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										TGTCGACATCGCAGCTTTCAA	0.488																																						ENST00000428783.1																			0																																																			196549							g.chr13:32527481G>A			13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527481G>A														0	1181	+								Q08AR3	RNA	SNP	ENST00000428783.1	37																																																																																						0.488	EEF1DP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044400.2	NR_027062		12	62	0	0	0	1	0	12	62				
IDO2	169355	broad.mit.edu	37	8	39872932	39872932	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:39872932C>T	ENST00000389060.4	+	10	1035	c.1035C>T	c.(1033-1035)agC>agT	p.S345S	IDO2_ENST00000502986.2_Silent_p.S358S|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	345					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						AGCTGCGGAGCTATCACATCA	0.542																																						ENST00000502986.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						c.(1072-1074)agC>agT		indoleamine 2,3-dioxygenase 2							78.0	77.0	78.0					8																	39872932		2084	4197	6281	SO:0001819	synonymous_variant	169355				tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39872932C>T	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.1035C>T	8.37:g.39872932C>T						IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Silent_p.S345S	p.S358S	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN			11	1316	+			345					A4UD41	Silent	SNP	ENST00000389060.4	37	c.1074C>T																																																																																					0.542	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		4	82	0	0	0	1	0	4	82				
PPP5C	5536	broad.mit.edu	37	19	46879823	46879823	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:46879823G>A	ENST00000012443.4	+	4	728	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	PPP5C_ENST00000391919.1_Missense_Mutation_p.A103T	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	209	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CCGGAAATGTGCCTACCAGGT	0.547																																						ENST00000012443.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18						c.(625-627)Gcc>Acc		protein phosphatase 5, catalytic subunit							102.0	87.0	92.0					19																	46879823		2203	4300	6503	SO:0001583	missense	5536				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr19:46879823G>A		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.625G>A	19.37:g.46879823G>A	ENSP00000012443:p.Ala209Thr					PPP5C_ENST00000391919.1_Missense_Mutation_p.A103T	p.A209T	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)	4	728	+		Ovarian(192;0.0731)|all_neural(266;0.196)	209			Catalytic.		Q16722|Q53XV2	Missense_Mutation	SNP	ENST00000012443.4	37	c.625G>A	CCDS12684.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843549	0.91197	.	.	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	T;T	0.50813	0.73;0.73	4.1	4.1	0.47936	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Serine/threonine phosphatase, PPP5 (1);	0.000000	0.50627	U	0.000120	T	0.56702	0.2003	M	0.81614	2.55	0.80722	D	1	P;P	0.42357	0.777;0.667	P;B	0.45558	0.485;0.399	T	0.64993	-0.6276	10	0.56958	D	0.05	-18.7528	14.2051	0.65730	0.0:0.0:1.0:0.0	.	209;209	B2R6R6;P53041	.;PPP5_HUMAN	T	209;196;103	ENSP00000012443:A209T;ENSP00000375786:A103T	ENSP00000012443:A209T	A	+	1	0	PPP5C	51571663	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	8.897000	0.92532	2.292000	0.77174	0.655000	0.94253	GCC		0.547	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		17	74	0	0	0	1	0	17	74				
TRAV1-1	28693	broad.mit.edu	37	14	22090072	22090072	+	RNA	SNP	C	C	A	rs374455843		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:22090072C>A	ENST00000542354.1	+	0	82									T cell receptor alpha variable 1-1																		GGGAGCTTTCCTTCTCTATGT	0.443																																						ENST00000542354.1																			0																				148.0	138.0	142.0					14																	22090072		1893	4116	6009			28693							g.chr14:22090072C>A	AE000658		14q11.2	2012-02-07			ENSG00000255569	ENSG00000255569		"""T cell receptors / TRA locus"""	12101	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TRAV11, TCRAV1S1, TCRAV7S1			OTTHUMG00000168977		14.37:g.22090072C>A														0	82	+									RNA	SNP	ENST00000542354.1	37																																																																																						0.443	TRAV1-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401872.1	NG_001332		21	59	1	0	1.1804e-14	1	1.23573e-14	21	59				
GCN1L1	10985	broad.mit.edu	37	12	120585076	120585076	+	Splice_Site	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:120585076G>A	ENST00000300648.6	-	38	4739	c.4727C>T	c.(4726-4728)gCc>gTc	p.A1576V		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1576					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGAGCAATGGCTGCACATCC	0.532																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.e38-1		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							45.0	48.0	47.0					12																	120585076		1965	4154	6119	SO:0001630	splice_region_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120585076G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4727-1C>T	12.37:g.120585076G>A							p.A1576_splice	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			38	4739	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1576					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Splice_Site	SNP	ENST00000300648.6	37	c.4726_splice	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765713	0.69878	.	.	ENSG00000089154	ENST00000300648	T	0.64991	-0.13	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82314	0.5010	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.84419	0.0570	10	0.87932	D	0	.	19.8555	0.96756	0.0:0.0:1.0:0.0	.	1576	Q92616	GCN1L_HUMAN	V	1576	ENSP00000300648:A1576V	ENSP00000300648:A1576V	A	-	2	0	GCN1L1	119069459	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	9.869000	0.99810	2.697000	0.92050	0.591000	0.81541	GCC		0.532	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		Missense_Mutation	11	38	0	0	0	1	0	11	38				
WNT5A	7474	broad.mit.edu	37	3	55504242	55504242	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:55504242C>T	ENST00000474267.1	-	6	1542	c.1021G>A	c.(1021-1023)Ggc>Agc	p.G341S	WNT5A_ENST00000497027.1_Missense_Mutation_p.G326S|WNT5A_ENST00000493406.1_5'Flank|WNT5A_ENST00000264634.4_Missense_Mutation_p.G341S			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	341					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|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)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TAGCCACGGCCGCAGCACATG	0.627																																						ENST00000474267.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(1021-1023)Ggc>Agc		wingless-type MMTV integration site family, member 5A							77.0	82.0	80.0					3																	55504242		2203	4300	6503	SO:0001583	missense	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55504242C>T	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.1021G>A	3.37:g.55504242C>T	ENSP00000417310:p.Gly341Ser					WNT5A_ENST00000264634.4_Missense_Mutation_p.G341S|WNT5A_ENST00000497027.1_Missense_Mutation_p.G326S	p.G341S			P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	6	1542	-			341					A8K4A4|Q6P278	Missense_Mutation	SNP	ENST00000474267.1	37	c.1021G>A	CCDS46850.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.732501|5.732501	0.96856|0.96856	.|.	.|.	ENSG00000114251|ENSG00000114251	ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027|ENST00000442038	D;D;D|.	0.81499|.	-1.5;-1.5;-1.5|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86912|0.86912	0.6047|0.6047	M|M	0.92122|0.92122	3.275|3.275	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.89389|0.89389	0.3687|0.3687	10|6	0.87932|0.87932	D|D	0|0	.|.	19.7728|19.7728	0.96373|0.96373	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	341|.	P41221|.	WNT5A_HUMAN|.	S|Q	341;341;252;326|73	ENSP00000417310:G341S;ENSP00000264634:G341S;ENSP00000420104:G326S|.	ENSP00000264634:G341S|ENSP00000395272:R73Q	G|R	-|-	1|2	0|0	WNT5A|WNT5A	55479282|55479282	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	7.813000|7.813000	0.86123|0.86123	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.627	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		22	90	0	0	0	1	0	22	90				
MRPL50	54534	broad.mit.edu	37	9	104152834	104152834	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:104152834T>C	ENST00000374865.4	-	2	412	c.391A>G	c.(391-393)Aat>Gat	p.N131D	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	131						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATAGGGACATTATAGAAATCA	0.413																																						ENST00000374865.4																			0				large_intestine(1)|lung(2)|prostate(2)	5						c.(391-393)Aat>Gat		mitochondrial ribosomal protein L50							82.0	80.0	81.0					9																	104152834		2202	4298	6500	SO:0001583	missense	54534					mitochondrion|ribosome		g.chr9:104152834T>C	AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.391A>G	9.37:g.104152834T>C	ENSP00000363999:p.Asn131Asp					MRPL50_ENST00000539624.1_Intron	p.N131D	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN			2	412	-		Acute lymphoblastic leukemia(62;0.0559)	131					B7Z358|Q5T7E0|Q9NX15	Missense_Mutation	SNP	ENST00000374865.4	37	c.391A>G	CCDS6753.1	.	.	.	.	.	.	.	.	.	.	T	7.217	0.596684	0.13875	.	.	ENSG00000136897	ENST00000374865	T	0.45668	0.89	5.9	2.2	0.27929	.	0.396097	0.26286	N	0.025257	T	0.26340	0.0643	L	0.44542	1.39	0.41085	D	0.985551	B	0.30973	0.302	B	0.25614	0.062	T	0.06023	-1.0850	10	0.26408	T	0.33	-20.1193	3.315	0.07030	0.1368:0.0739:0.1433:0.646	.	131	Q8N5N7	RM50_HUMAN	D	131	ENSP00000363999:N131D	ENSP00000363999:N131D	N	-	1	0	MRPL50	103192655	0.076000	0.21285	0.181000	0.23098	0.504000	0.33889	0.340000	0.19892	0.124000	0.18369	-0.461000	0.05368	AAT		0.413	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051		35	63	0	0	0	1	0	35	63				
ZSCAN18	65982	broad.mit.edu	37	19	58596693	58596693	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:58596693C>T	ENST00000240727.6	-	7	1291	c.892G>A	c.(892-894)Gcg>Acg	p.A298T	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A162T|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A354T|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A298T	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	298					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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGCACCCCCGCGGGGGCGGCC	0.736																																						ENST00000240727.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(892-894)Gcg>Acg		zinc finger and SCAN domain containing 18							7.0	9.0	8.0					19																	58596693		1503	3184	4687	SO:0001583	missense	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596693C>T	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.892G>A	19.37:g.58596693C>T	ENSP00000240727:p.Ala298Thr					ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A354T|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A298T|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A162T	p.A298T	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1291	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	298					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	c.892G>A	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	C	1.883	-0.457324	0.04540	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T;T	0.08008	3.14;4.6;4.37	0.235	-0.47	0.12131	.	.	.	.	.	T	0.02267	0.0070	N	0.08118	0	0.09310	N	1	P;P;B;P	0.41420	0.749;0.749;0.001;0.596	B;B;B;B	0.20767	0.031;0.031;0.0;0.012	T	0.43294	-0.9400	8	0.21014	T	0.42	.	.	.	.	.	354;162;297;298	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	T	354;298;162	ENSP00000412253:A354T;ENSP00000240727:A298T;ENSP00000392653:A162T	ENSP00000240727:A298T	A	-	1	0	ZSCAN18	63288505	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-2.477000	0.00985	-0.671000	0.05274	-0.657000	0.03884	GCG		0.736	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		13	25	0	0	0	1	0	13	25				
GM2A	2760	broad.mit.edu	37	5	150646297	150646297	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:150646297T>C	ENST00000357164.3	+	3	574	c.249T>C	c.(247-249)gaT>gaC	p.D83D		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	83					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|learning or memory (GO:0007611)|lipid storage (GO:0019915)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	apical cortex (GO:0045179)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|mitochondrion (GO:0005739)	beta-N-acetylhexosaminidase activity (GO:0004563)|lipid transporter activity (GO:0005319)|phospholipase activator activity (GO:0016004)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCAGGTGGATTTAGTTTTGG	0.408																																						ENST00000357164.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8						c.(247-249)gaT>gaC		GM2 ganglioside activator							66.0	66.0	66.0					5																	150646297		2203	4300	6503	SO:0001819	synonymous_variant	2760					lysosome|nucleolus	sphingolipid activator protein activity	g.chr5:150646297T>C		CCDS4313.1	5q33.1	2010-03-17	2004-05-20		ENSG00000196743	ENSG00000196743			4367	protein-coding gene	gene with protein product	"""cerebroside sulfate activator protein"", ""sphingolipid activator protein 3"""	613109	"""GM2 ganglioside activator protein"""			115863, 1915857	Standard	NM_000405		Approved	SAP-3	uc003ltr.4	P17900	OTTHUMG00000130124	ENST00000357164.3:c.249T>C	5.37:g.150646297T>C							p.D83D	NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	574	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	83					B2R699|D3DQH6|Q14426|Q14428|Q6LBL5	Silent	SNP	ENST00000357164.3	37	c.249T>C	CCDS4313.1	.	.	.	.	.	.	.	.	.	.	T	3.033	-0.199161	0.06219	.	.	ENSG00000196743	ENST00000523004	.	.	.	5.7	-11.4	0.00090	.	.	.	.	.	T	0.16599	0.0399	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.06807	-1.0806	4	.	.	.	-0.8487	4.8314	0.13441	0.2167:0.0733:0.4183:0.2917	.	.	.	.	L	42	.	.	F	+	1	0	GM2A	150626490	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.439000	0.02414	-2.781000	0.00360	-2.336000	0.00247	TTT		0.408	GM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252432.1	NM_000405		29	66	0	0	0	1	0	29	66				
ARHGAP39	80728	broad.mit.edu	37	8	145756141	145756141	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145756141T>C	ENST00000276826.5	-	9	3203	c.3002A>G	c.(3001-3003)cAc>cGc	p.H1001R	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.H1001R|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.H1032R|C8orf82_ENST00000313465.5_5'Flank|C8orf82_ENST00000524821.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	1001	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGGCAGCGCGTGCACCACGGC	0.692																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(3001-3003)cAc>cGc		Rho GTPase activating protein 39							34.0	29.0	30.0					8																	145756141		2188	4293	6481	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145756141T>C		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.3002A>G	8.37:g.145756141T>C	ENSP00000276826:p.His1001Arg					ARHGAP39_ENST00000377307.2_Missense_Mutation_p.H1032R|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.H1001R	p.H1001R			Q9C0H5	RHG39_HUMAN			9	3203	-			1001			Rho-GAP.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.3002A>G		.	.	.	.	.	.	.	.	.	.	T	12.20	1.866629	0.32977	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.16743	2.32;2.32;2.32	5.19	5.19	0.71726	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.306957	0.33650	N	0.004687	T	0.09730	0.0239	N	0.05351	-0.065	0.39278	D	0.964504	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.17107	-1.0380	10	0.34782	T	0.22	-54.8684	12.9789	0.58552	0.0:0.0:0.0:1.0	.	1001;1032	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	R	1001;1032;1001	ENSP00000276826:H1001R;ENSP00000366522:H1032R;ENSP00000445075:H1001R	ENSP00000276826:H1001R	H	-	2	0	ARHGAP39	145726949	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	3.158000	0.50723	1.954000	0.56735	0.459000	0.35465	CAC		0.692	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			5	36	0	0	0	1	0	5	36				
FLYWCH1	84256	broad.mit.edu	37	16	2983960	2983960	+	Missense_Mutation	SNP	C	C	T	rs578005656	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2983960C>T	ENST00000253928.9	+	6	1898	c.1493C>T	c.(1492-1494)aCg>aTg	p.T498M	FLYWCH1_ENST00000416288.2_Missense_Mutation_p.T497M|FLYWCH1_ENST00000399667.2_Missense_Mutation_p.T498M			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	498						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						CGCCCCAACACGGCGCAGCGG	0.711													.|||	7	0.00139776	0.0	0.0	5008	,	,		13438	0.0		0.0	False		,,,				2504	0.0072					ENST00000399667.2																			0				kidney(1)|lung(3)	4						c.(1492-1494)aCg>aTg		FLYWCH-type zinc finger 1							5.0	7.0	6.0					16																	2983960		1896	4007	5903	SO:0001583	missense	84256					nucleus	DNA binding|metal ion binding	g.chr16:2983960C>T	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.1493C>T	16.37:g.2983960C>T	ENSP00000253928:p.Thr498Met					FLYWCH1_ENST00000416288.2_Missense_Mutation_p.T497M|FLYWCH1_ENST00000253928.9_Missense_Mutation_p.T498M	p.T498M			Q4VC44	FWCH1_HUMAN			6	1856	+			498					D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	37	c.1493C>T		.	.	.	.	.	.	.	.	.	.	C	4.171	0.030307	0.08101	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	3.83	-0.508	0.11980	.	.	.	.	.	T	0.27454	0.0674	L	0.34521	1.04	0.09310	N	1	B;P;D	0.63046	0.009;0.874;0.992	B;B;P	0.47206	0.005;0.145;0.541	T	0.14200	-1.0481	8	0.40728	T	0.16	.	4.923	0.13880	0.1499:0.5648:0.0:0.2852	.	498;498;497	Q4VC44-3;Q4VC44;Q4VC44-2	.;FWCH1_HUMAN;.	M	498;498;497	.	ENSP00000253928:T498M	T	+	2	0	FLYWCH1	2923961	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.063000	0.11655	-0.271000	0.09272	-1.598000	0.00824	ACG		0.711	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		3	4	0	0	0	1	0	3	4				
TCEB3C	162699	broad.mit.edu	37	18	44555088	44555088	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:44555088A>G	ENST00000330682.2	-	1	1361	c.1126T>C	c.(1126-1128)Tac>Cac	p.Y376H	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	376	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TCTGTGCGGTACAGCTGATCG	0.572																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(1126-1128)Tac>Cac		transcription elongation factor B polypeptide 3C (elongin A3)							681.0	621.0	641.0					18																	44555088		1989	4009	5998	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555088A>G	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1126T>C	18.37:g.44555088A>G	ENSP00000328232:p.Tyr376His					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.Y376H	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN			1	1361	-			376			Activation domain (By similarity).			Missense_Mutation	SNP	ENST00000330682.2	37	c.1126T>C	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	a	12.03	1.816476	0.32145	.	.	ENSG00000183791	ENST00000330682	T	0.30981	1.51	1.75	-2.57	0.06248	.	0.747399	0.11440	N	0.563885	T	0.24005	0.0581	L	0.60845	1.875	0.09310	N	0.999999	B	0.28605	0.217	B	0.28139	0.086	T	0.22487	-1.0215	10	0.29301	T	0.29	0.0182	6.0445	0.19752	0.4524:0.0:0.5476:0.0	.	376	Q8NG57	ELOA3_HUMAN	H	376	ENSP00000328232:Y376H	ENSP00000328232:Y376H	Y	-	1	0	TCEB3C	42809086	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.279000	0.08479	-0.664000	0.05324	0.397000	0.26171	TAC		0.572	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		40	1427	0	0	0	1	0	40	1427				
FAM227B	196951	broad.mit.edu	37	15	49903433	49903433	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:49903433T>C	ENST00000299338.6	-	3	387	c.84A>G	c.(82-84)gaA>gaG	p.E28E	FAM227B_ENST00000560246.1_Silent_p.E28E|FAM227B_ENST00000558594.1_Silent_p.E28E|FAM227B_ENST00000558862.1_5'UTR|FAM227B_ENST00000561064.1_Silent_p.E28E	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	28																	ACTTTAAGAATTCTTCAATGC	0.279																																						ENST00000299338.6																			0											c.(82-84)gaA>gaG		family with sequence similarity 227, member B							58.0	60.0	59.0					15																	49903433		2194	4284	6478	SO:0001819	synonymous_variant	196951							g.chr15:49903433T>C		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.84A>G	15.37:g.49903433T>C						FAM227B_ENST00000561064.1_Silent_p.E28E|FAM227B_ENST00000558862.1_5'UTR|FAM227B_ENST00000558594.1_Silent_p.E28E|FAM227B_ENST00000560246.1_Silent_p.E28E	p.E28E	NM_152647.2	NP_689860.2					3	387	-								Q86WS2	Silent	SNP	ENST00000299338.6	37	c.84A>G	CCDS32237.1																																																																																				0.279	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		4	32	0	0	0	1	0	4	32				
NRROS	375387	broad.mit.edu	37	3	196388515	196388515	+	Silent	SNP	C	C	T	rs375143570		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:196388515C>T	ENST00000328557.4	+	3	2204	c.2001C>T	c.(1999-2001)tgC>tgT	p.C667C		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	667					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TGGTGGCCTGCACTGTCATCG	0.617																																						ENST00000328557.4																			0											c.(1999-2001)tgC>tgT		negative regulator of reactive oxygen species		C		0,4406		0,0,2203	105.0	110.0	108.0		2001	1.6	1.0	3		108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRRC33	NM_198565.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		667/693	196388515	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	375387							g.chr3:196388515C>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.2001C>T	3.37:g.196388515C>T							p.C667C	NM_198565.1	NP_940967.1					3	2204	+									Silent	SNP	ENST00000328557.4	37	c.2001C>T	CCDS3319.1																																																																																				0.617	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		8	237	0	0	0	1	0	8	237				
KL	9365	broad.mit.edu	37	13	33590977	33590977	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:33590977C>G	ENST00000380099.3	+	1	407	c.399C>G	c.(397-399)ttC>ttG	p.F133L	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	133	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ACAACGTCTTCCGCGACACGG	0.711																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(397-399)ttC>ttG		klotho							24.0	25.0	25.0					13																	33590977		2180	4266	6446	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33590977C>G	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.399C>G	13.37:g.33590977C>G	ENSP00000369442:p.Phe133Leu					KL_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR	p.F133L	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	1	407	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	133			Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.399C>G	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.697606	0.30142	.	.	ENSG00000133116	ENST00000380099	T	0.28255	1.62	4.06	-3.35	0.04928	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.658068	0.16082	N	0.230442	T	0.13286	0.0322	N	0.11201	0.11	0.09310	N	0.999997	B	0.02656	0.0	B	0.12837	0.008	T	0.13282	-1.0515	10	0.45353	T	0.12	-5.238	7.78	0.29060	0.0:0.3518:0.4331:0.2152	.	133	Q9UEF7	KLOT_HUMAN	L	133	ENSP00000369442:F133L	ENSP00000369442:F133L	F	+	3	2	KL	32488977	0.000000	0.05858	0.368000	0.25939	0.975000	0.68041	-0.477000	0.06583	-0.712000	0.04988	0.462000	0.41574	TTC		0.711	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			8	46	0	0	0	1	0	8	46				
GNPTAB	79158	broad.mit.edu	37	12	102154939	102154939	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:102154939G>A	ENST00000299314.7	-	15	3363	c.3101C>T	c.(3100-3102)gCt>gTt	p.A1034V		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1034	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AATTCTGGTAGCCAGTGTTCG	0.393																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3100-3102)gCt>gTt		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							75.0	70.0	72.0					12																	102154939		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102154939G>A	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.3101C>T	12.37:g.102154939G>A	ENSP00000299314:p.Ala1034Val						p.A1034V	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			15	3363	-			1034			EF-hand.		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.3101C>T	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	32	5.169152	0.94768	.	.	ENSG00000111670	ENST00000299314	D	0.85339	-1.97	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.90270	0.6957	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	D	0.70487	0.969	D	0.89030	0.3441	10	0.45353	T	0.12	-21.2437	20.1865	0.98220	0.0:0.0:1.0:0.0	.	1034	Q3T906	GNPTA_HUMAN	V	1034	ENSP00000299314:A1034V	ENSP00000299314:A1034V	A	-	2	0	GNPTAB	100679070	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	9.476000	0.97823	2.775000	0.95449	0.655000	0.94253	GCT		0.393	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			10	79	0	0	0	1	0	10	79				
OR8B2	26595	broad.mit.edu	37	11	124253109	124253109	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:124253109C>T	ENST00000375013.2	-	1	149	c.131G>A	c.(130-132)gGc>gAc	p.G44D		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGTGATCAAGCCAAGGTTGCC	0.418																																						ENST00000375013.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23						c.(130-132)gGc>gAc		olfactory receptor, family 8, subfamily B, member 2							209.0	189.0	196.0					11																	124253109		2201	4299	6500	SO:0001583	missense	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124253109C>T	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.131G>A	11.37:g.124253109C>T	ENSP00000364152:p.Gly44Asp						p.G44D	NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	149	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	44					Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	c.131G>A	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	c	12.97	2.096586	0.36952	.	.	ENSG00000204293	ENST00000375013	T	0.01084	5.36	4.09	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	0.098719	0.45126	D	0.000384	T	0.02688	0.0081	M	0.92219	3.285	0.09310	N	1	P	0.46706	0.883	B	0.37650	0.255	T	0.37244	-0.9714	10	0.87932	D	0	.	7.1691	0.25708	0.3002:0.5396:0.1602:0.0	.	44	Q96RD0	OR8B2_HUMAN	D	44	ENSP00000364152:G44D	ENSP00000364152:G44D	G	-	2	0	OR8B2	123758319	0.000000	0.05858	0.021000	0.16686	0.314000	0.28054	-0.049000	0.11924	1.058000	0.40530	0.400000	0.26472	GGC		0.418	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		54	162	0	0	0	1	0	54	162				
PCDH19	57526	broad.mit.edu	37	X	99662682	99662682	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:99662682T>C	ENST00000373034.4	-	1	2589	c.914A>G	c.(913-915)gAc>gGc	p.D305G	PCDH19_ENST00000420881.2_Missense_Mutation_p.D305G|PCDH19_ENST00000255531.7_Missense_Mutation_p.D305G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	305	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTCTTCGTAGTCTAAAGCGCC	0.597																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(913-915)gAc>gGc		protocadherin 19							68.0	73.0	72.0					X																	99662682		2130	4230	6360	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662682T>C	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.914A>G	X.37:g.99662682T>C	ENSP00000362125:p.Asp305Gly					PCDH19_ENST00000255531.7_Missense_Mutation_p.D305G|PCDH19_ENST00000420881.2_Missense_Mutation_p.D305G	p.D305G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2589	-			305			Cadherin 3.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.914A>G	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.308000	0.60305	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.65178	-0.14;-0.14;-0.14	5.95	5.95	0.96441	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87807	0.6270	H	0.98818	4.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.991;0.995	D	0.92621	0.6108	10	0.87932	D	0	.	15.2923	0.73875	0.0:0.0:0.0:1.0	.	305;305;305	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	G	305	ENSP00000400327:D305G;ENSP00000362125:D305G;ENSP00000255531:D305G	ENSP00000255531:D305G	D	-	2	0	PCDH19	99549338	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	8.040000	0.89188	1.995000	0.58328	0.417000	0.27973	GAC		0.597	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		33	31	0	0	0	1	0	33	31				
RTN3	10313	broad.mit.edu	37	11	63487380	63487380	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:63487380A>G	ENST00000377819.5	+	3	1560	c.1406A>G	c.(1405-1407)aAa>aGa	p.K469R	RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.K450R|RTN3_ENST00000540798.1_Missense_Mutation_p.K357R|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	469					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GCCACAGTGAAAGTGGTTTTA	0.468																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1405-1407)aAa>aGa		reticulon 3							93.0	92.0	92.0					11																	63487380		2201	4298	6499	SO:0001583	missense	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63487380A>G	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1406A>G	11.37:g.63487380A>G	ENSP00000367050:p.Lys469Arg					RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.K357R|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.K450R	p.K469R	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			3	1560	+			469					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.1406A>G	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	A	8.500	0.864005	0.17250	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.17854	2.25;2.25;2.25	5.87	4.73	0.59995	.	0.697915	0.13048	N	0.417981	T	0.13286	0.0322	N	0.24115	0.695	0.21984	N	0.999438	P;P;P	0.42296	0.775;0.666;0.775	B;B;B	0.39660	0.306;0.162;0.306	T	0.10636	-1.0621	10	0.59425	D	0.04	-5.8307	10.1271	0.42656	0.8317:0.1683:0.0:0.0	.	357;469;450	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	R	469;450;357	ENSP00000367050:K469R;ENSP00000344106:K450R;ENSP00000442733:K357R	ENSP00000344106:K450R	K	+	2	0	RTN3	63243956	0.374000	0.25081	0.016000	0.15963	0.033000	0.12548	2.384000	0.44362	1.028000	0.39785	0.528000	0.53228	AAA		0.468	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		5	132	0	0	0	1	0	5	132				
BAG3	9531	broad.mit.edu	37	10	121431897	121431897	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:121431897A>G	ENST00000369085.3	+	3	944	c.638A>G	c.(637-639)gAg>gGg	p.E213G		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	213					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GTGATACACGAGCAGAACGTT	0.652																																						ENST00000369085.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(637-639)gAg>gGg		BCL2-associated athanogene 3							81.0	79.0	79.0					10																	121431897		2203	4300	6503	SO:0001583	missense	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121431897A>G	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.638A>G	10.37:g.121431897A>G	ENSP00000358081:p.Glu213Gly						p.E213G	NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	3	944	+		Lung NSC(174;0.109)|all_lung(145;0.142)	213					A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	c.638A>G	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	A	32	5.125415	0.94429	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	D;D	0.87179	-2.22;-2.03	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93044	0.7786	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.93288	0.6666	10	0.62326	D	0.03	-26.7035	16.8222	0.85835	1.0:0.0:0.0:0.0	.	213;213	O95817;Q53GY1	BAG3_HUMAN;.	G	213;155	ENSP00000358081:E213G;ENSP00000410036:E155G	ENSP00000358081:E213G	E	+	2	0	BAG3	121421887	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.446000	0.73460	2.371000	0.80710	0.533000	0.62120	GAG		0.652	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		46	113	0	0	0	1	0	46	113				
CDCA7L	55536	broad.mit.edu	37	7	21947818	21947818	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:21947818C>T	ENST00000406877.3	-	4	890	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.R170Q|CDCA7L_ENST00000373934.4_Missense_Mutation_p.R158Q	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	204					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GCTCTCATCCCGAGAGTCATC	0.463																																						ENST00000406877.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						c.(610-612)cGg>cAg		cell division cycle associated 7-like							81.0	73.0	75.0					7																	21947818		2203	4300	6503	SO:0001583	missense	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21947818C>T		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.611G>A	7.37:g.21947818C>T	ENSP00000383986:p.Arg204Gln					CDCA7L_ENST00000356195.5_Missense_Mutation_p.R170Q|CDCA7L_ENST00000373934.4_Missense_Mutation_p.R158Q|CDCA7L_ENST00000465490.1_5'UTR	p.R204Q	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN			4	890	-			204					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.611G>A	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451227	0.43531	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934	T;T;T	0.42900	0.97;0.96;0.96	5.6	5.6	0.85130	.	0.433966	0.25878	N	0.027717	T	0.28566	0.0707	L	0.51422	1.61	0.09310	N	1	P;P;P;P	0.48503	0.856;0.824;0.824;0.911	B;B;B;B	0.33799	0.082;0.089;0.089;0.17	T	0.41233	-0.9520	10	0.33141	T	0.24	-10.1932	6.5064	0.22198	0.0:0.7029:0.1813:0.1158	.	204;158;204;203	A8K8X5;C9K0Y1;Q96GN5;Q96GN5-2	.;.;CDA7L_HUMAN;.	Q	170;204;158	ENSP00000348523:R170Q;ENSP00000383986:R204Q;ENSP00000363045:R158Q	ENSP00000348523:R170Q	R	-	2	0	CDCA7L	21914343	0.910000	0.30920	0.573000	0.28510	0.746000	0.42486	3.138000	0.50570	2.620000	0.88729	0.563000	0.77884	CGG		0.463	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		17	31	0	0	0	1	0	17	31				
MYOM3	127294	broad.mit.edu	37	1	24390588	24390588	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:24390588T>C	ENST00000374434.3	-	30	3758	c.3596A>G	c.(3595-3597)gAc>gGc	p.D1199G	RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000330966.7_Missense_Mutation_p.D1202G|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.D92G	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1199	Ig-like C2-type 3.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CAATATGGTGTCGTCCTCCCC	0.547																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(3604-3606)gAc>gGc		myomesin 3							124.0	131.0	128.0					1																	24390588		2093	4231	6324	SO:0001583	missense	127294							g.chr1:24390588T>C	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3596A>G	1.37:g.24390588T>C	ENSP00000363557:p.Asp1199Gly					MYOM3_ENST00000338909.5_Missense_Mutation_p.D92G|MYOM3_ENST00000374434.3_Missense_Mutation_p.D1199G|RP11-293P20.2_ENST00000439239.2_RNA	p.D1202G			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	30	3767	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1199			Ig-like C2-type 3.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.3605A>G	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	T	10.77	1.443674	0.25987	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442	T;T;T	0.72051	2.0;-0.62;-0.62	5.77	4.65	0.58169	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.317952	0.32081	N	0.006608	T	0.66096	0.2755	L	0.55481	1.735	0.37856	D	0.929561	P;P	0.49185	0.92;0.605	P;B	0.45712	0.491;0.425	T	0.67260	-0.5715	10	0.37606	T	0.19	.	7.4771	0.27382	0.0:0.0742:0.2141:0.7117	.	1199;92	Q5VTT5;Q5VTT5-3	MYOM3_HUMAN;.	G	92;1199;1202;94	ENSP00000342689:D92G;ENSP00000363557:D1199G;ENSP00000332670:D1202G	ENSP00000332670:D1202G	D	-	2	0	MYOM3	24263175	0.099000	0.21834	0.923000	0.36655	0.313000	0.28021	0.545000	0.23268	1.018000	0.39521	0.533000	0.62120	GAC		0.547	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		20	68	0	0	0	1	0	20	68				
CUX1	1523	broad.mit.edu	37	7	101840547	101840547	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:101840547A>G	ENST00000292535.7	+	15	1894	c.1856A>G	c.(1855-1857)aAc>aGc	p.N619S	CUX1_ENST00000546411.2_Missense_Mutation_p.N517S|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.N517S|CUX1_ENST00000360264.3_Missense_Mutation_p.N630S|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.N619S|CUX1_ENST00000550008.2_Missense_Mutation_p.N619S|CUX1_ENST00000393824.3_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	619					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GATGAGCAGAACATCCTGGCC	0.562																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(1888-1890)aAc>aGc		cut-like homeobox 1							68.0	63.0	65.0					7																	101840547		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101840547A>G	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1856A>G	7.37:g.101840547A>G	ENSP00000292535:p.Asn619Ser					CUX1_ENST00000556210.1_Missense_Mutation_p.N517S|CUX1_ENST00000549414.2_Missense_Mutation_p.N619S|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.N619S|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.N517S|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.N619S	p.N630S	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			15	1909	+			619					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.1889A>G	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	19.59	3.856691	0.71834	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.62788	0.02;0.03;0.06;0.12;-0.0;0.16	5.41	5.41	0.78517	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	N	0.19112	0.55	0.80722	D	1	D;D	0.63046	0.992;0.99	D;D	0.76071	0.987;0.979	T	0.71507	-0.4572	10	0.56958	D	0.05	-35.0968	15.45	0.75265	1.0:0.0:0.0:0.0	.	619;630	P39880;P39880-3	CUX1_HUMAN;.	S	630;619;619;619;517;517	ENSP00000353401:N630S;ENSP00000292535:N619S;ENSP00000446630:N619S;ENSP00000447373:N619S;ENSP00000450125:N517S;ENSP00000451558:N517S	ENSP00000292535:N619S	N	+	2	0	CUX1	101627267	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.335000	0.96500	2.044000	0.60594	0.459000	0.35465	AAC		0.562	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		38	105	0	0	0	1	0	38	105				
TBC1D32	221322	broad.mit.edu	37	6	121577312	121577312	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:121577312C>T	ENST00000398212.2	-	16	1902	c.1853G>A	c.(1852-1854)cGt>cAt	p.R618H	TBC1D32_ENST00000275159.6_Missense_Mutation_p.R618H	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	618					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										ATATATGTGACGACACACAGA	0.338																																						ENST00000275159.6																			0											c.(1852-1854)cGt>cAt		TBC1 domain family, member 32							93.0	85.0	87.0					6																	121577312		1817	4082	5899	SO:0001583	missense	221322							g.chr6:121577312C>T	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1853G>A	6.37:g.121577312C>T	ENSP00000381270:p.Arg618His					TBC1D32_ENST00000398212.2_Missense_Mutation_p.R618H	p.R618H							16	1852	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.1853G>A	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201346	0.79015	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.26810	1.71;1.71	5.06	3.24	0.37175	.	0.193173	0.45126	D	0.000400	T	0.36054	0.0953	M	0.75264	2.295	0.42118	D	0.991415	D;D	0.89917	0.997;1.0	P;D	0.74348	0.823;0.983	T	0.27434	-1.0074	10	0.66056	D	0.02	-23.1608	10.5347	0.44996	0.0:0.793:0.1338:0.0732	.	618;618	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	H	618	ENSP00000275159:R618H;ENSP00000381270:R618H	ENSP00000275159:R618H	R	-	2	0	C6orf170	121619011	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	4.714000	0.61902	0.608000	0.30000	0.655000	0.94253	CGT		0.338	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		14	51	0	0	0	1	0	14	51				
HRNR	388697	broad.mit.edu	37	1	152187860	152187860	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:152187860C>T	ENST00000368801.2	-	3	6320	c.6245G>A	c.(6244-6246)gGc>gAc	p.G2082D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2082					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCATGTCGGCCATAGCTGGG	0.622																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6244-6246)gGc>gAc		hornerin							43.0	36.0	38.0					1																	152187860		2183	4279	6462	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187860C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6245G>A	1.37:g.152187860C>T	ENSP00000357791:p.Gly2082Asp					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G2082D	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6320	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2082					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6245G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	7.993	0.753689	0.15778	.	.	ENSG00000197915	ENST00000368801	T	0.16073	2.37	3.76	2.83	0.33086	.	.	.	.	.	T	0.11239	0.0274	L	0.28400	0.85	0.09310	N	1	D	0.76494	0.999	P	0.62184	0.899	T	0.14755	-1.0461	9	0.31617	T	0.26	.	8.978	0.35948	0.0:0.8864:0.0:0.1136	.	2082	Q86YZ3	HORN_HUMAN	D	2082	ENSP00000357791:G2082D	ENSP00000357791:G2082D	G	-	2	0	HRNR	150454484	.	.	0.001000	0.08648	0.001000	0.01503	.	.	0.901000	0.36495	0.609000	0.83330	GGC		0.622	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		71	207	0	0	0	1	0	71	207				
CASP2	835	broad.mit.edu	37	7	143001775	143001775	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:143001775G>A	ENST00000310447.5	+	10	1367	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	376					aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					AGGGACTGCCGCCATGCGGAA	0.537																																						ENST00000310447.5																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21						c.(1126-1128)Gcc>Acc		caspase 2, apoptosis-related cysteine peptidase							164.0	140.0	148.0					7																	143001775		2203	4300	6503	SO:0001583	missense	835				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding	g.chr7:143001775G>A	AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.1126G>A	7.37:g.143001775G>A	ENSP00000312664:p.Ala376Thr					CASP2_ENST00000493642.1_3'UTR	p.A376T	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN			10	1367	+	Melanoma(164;0.059)		376					A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	ENST00000310447.5	37	c.1126G>A	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325193	0.81580	.	.	ENSG00000106144	ENST00000310447	T	0.24908	1.83	5.28	5.28	0.74379	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	0.155507	0.56097	D	0.000027	T	0.51991	0.1707	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.56589	-0.7954	10	0.72032	D	0.01	.	13.8831	0.63693	0.0:0.0:0.8476:0.1524	.	376	P42575	CASP2_HUMAN	T	376	ENSP00000312664:A376T	ENSP00000312664:A376T	A	+	1	0	CASP2	142711897	1.000000	0.71417	0.960000	0.40013	0.577000	0.36160	7.290000	0.78711	2.480000	0.83734	0.644000	0.83932	GCC		0.537	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	NM_032982		22	109	0	0	0	1	0	22	109				
ABHD4	63874	broad.mit.edu	37	14	23070609	23070609	+	Missense_Mutation	SNP	C	C	T	rs202089812		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23070609C>T	ENST00000428304.2	+	2	131	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	ABHD4_ENST00000544562.1_3'UTR|CTD-2555K7.4_ENST00000536432.2_RNA	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	21					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)	p.R21C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		GCCCACGTGGCGCCCCACTTC	0.542																																						ENST00000428304.2																			1	Substitution - Missense(1)	p.R21C(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14						c.(61-63)Cgc>Tgc		abhydrolase domain containing 4							99.0	85.0	90.0					14																	23070609		2203	4300	6503	SO:0001583	missense	63874				lipid catabolic process		hydrolase activity	g.chr14:23070609C>T	AK022878	CCDS9572.1	14q11.1	2006-10-06			ENSG00000100439	ENSG00000100439		"""Abhydrolase domain containing"""	20154	protein-coding gene	gene with protein product							Standard	NM_022060		Approved	FLJ12816	uc001wgm.3	Q8TB40	OTTHUMG00000028686	ENST00000428304.2:c.61C>T	14.37:g.23070609C>T	ENSP00000414558:p.Arg21Cys					ABHD4_ENST00000544562.1_3'UTR	p.R21C	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN		GBM - Glioblastoma multiforme(265;0.0153)	2	131	+	all_cancers(95;5.49e-05)		21					B4DDH7|Q9H9E0	Missense_Mutation	SNP	ENST00000428304.2	37	c.61C>T	CCDS9572.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533418	0.45073	.	.	ENSG00000100439	ENST00000428304;ENST00000216327;ENST00000545034	T;T	0.80824	-1.27;-1.42	5.37	4.48	0.54585	.	0.104866	0.64402	D	0.000005	T	0.56834	0.2012	N	0.02802	-0.49	0.58432	D	0.999991	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.55554	-0.8123	10	0.38643	T	0.18	-15.9178	8.6786	0.34194	0.0:0.8263:0.0:0.1737	.	21;21	B4DNZ5;Q8TB40	.;ABHD4_HUMAN	C	21	ENSP00000414558:R21C;ENSP00000216327:R21C	ENSP00000216327:R21C	R	+	1	0	ABHD4	22140449	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.504000	0.22626	2.531000	0.85337	0.655000	0.94253	CGC		0.542	ABHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071623.3			29	84	0	0	0	1	0	29	84				
RAB25	57111	broad.mit.edu	37	1	156039463	156039463	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:156039463A>G	ENST00000361084.5	+	4	676	c.435A>G	c.(433-435)gaA>gaG	p.E145E	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	145					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					TCCTGGCAGAAAACAATGGAC	0.408																																						ENST00000361084.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.e4-1		RAB25, member RAS oncogene family							303.0	286.0	292.0					1																	156039463		1897	4125	6022	SO:0001630	splice_region_variant	57111				positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding	g.chr1:156039463A>G	AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"""RAB, member RAS oncogene"""	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.434-1A>G	1.37:g.156039463A>G						RAB25_ENST00000487325.1_3'UTR	p.E145_splice	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN			4	676	+	Hepatocellular(266;0.158)|all_neural(408;0.195)		145					Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Splice_Site	SNP	ENST00000361084.5	37	c.433_splice	CCDS41413.1																																																																																				0.408	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046185.1		Silent	133	412	0	0	0	1	0	133	412				
SPATC1	375686	broad.mit.edu	37	8	145096225	145096225	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145096225C>T	ENST00000377470.3	+	4	1501	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	SPATC1_ENST00000447830.2_Intron	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	467						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAGCGCGTACGGCTCTACGG	0.637																																						ENST00000377470.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1399-1401)Cgg>Tgg		spermatogenesis and centriole associated 1							76.0	57.0	63.0					8																	145096225		2203	4300	6503	SO:0001583	missense	375686							g.chr8:145096225C>T	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.1399C>T	8.37:g.145096225C>T	ENSP00000366690:p.Arg467Trp					SPATC1_ENST00000447830.2_Intron	p.R467W	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		4	1501	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		467					B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	c.1399C>T	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344093	0.61073	.	.	ENSG00000186583	ENST00000377470	T	0.53423	0.62	4.48	3.59	0.41128	.	0.159322	0.39083	N	0.001464	T	0.65386	0.2686	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67589	-0.5632	10	0.87932	D	0	-19.7003	10.084	0.42406	0.2012:0.7988:0.0:0.0	.	467	Q76KD6	SPERI_HUMAN	W	467	ENSP00000366690:R467W	ENSP00000366690:R467W	R	+	1	2	SPATC1	145168213	0.294000	0.24380	0.517000	0.27799	0.759000	0.43091	0.606000	0.24194	0.994000	0.38892	0.462000	0.41574	CGG		0.637	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		19	65	0	0	0	1	0	19	65				
JAK3	3718	broad.mit.edu	37	19	17940942	17940942	+	Missense_Mutation	SNP	G	G	T	rs201366505		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17940942G>T	ENST00000527670.1	-	22	3211	c.3182C>A	c.(3181-3183)cCg>cAg	p.P1061Q	JAK3_ENST00000458235.1_Missense_Mutation_p.P1061Q|JAK3_ENST00000534444.1_Missense_Mutation_p.P1061Q			P52333	JAK3_HUMAN	Janus kinase 3	1061	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	AGGAGGCGCCGGCAGCCTCTG	0.682		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(3181-3183)cCg>cAg		Janus kinase 3							6.0	7.0	7.0					19																	17940942		2143	4200	6343	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17940942G>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.3182C>A	19.37:g.17940942G>T	ENSP00000432511:p.Pro1061Gln					JAK3_ENST00000527670.1_Missense_Mutation_p.P1061Q|JAK3_ENST00000534444.1_Missense_Mutation_p.P1061Q	p.P1061Q	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			23	3281	-			1061			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.3182C>A	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681342	0.88542	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	D;D;D	0.82893	-1.66;-1.66;-1.66	4.09	4.09	0.47781	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.068552	0.64402	D	0.000014	D	0.88716	0.6512	L	0.58510	1.815	0.58432	D	0.999997	D;D	0.89917	1.0;0.993	D;D	0.87578	0.998;0.975	D	0.89956	0.4083	10	0.87932	D	0	-14.3256	13.8065	0.63236	0.0:0.0:1.0:0.0	.	1061;1061	P52333-2;P52333	.;JAK3_HUMAN	Q	1061	ENSP00000391676:P1061Q;ENSP00000432511:P1061Q;ENSP00000436421:P1061Q	ENSP00000391676:P1061Q	P	-	2	0	JAK3	17801942	1.000000	0.71417	0.866000	0.34008	0.909000	0.53808	8.722000	0.91452	1.828000	0.53243	0.491000	0.48974	CCG		0.682	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		4	11	1	0	0.000602214	1	0.000609374	4	11				
UBQLN4	56893	broad.mit.edu	37	1	156021624	156021624	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:156021624A>C	ENST00000368309.3	-	2	225	c.133T>G	c.(133-135)Ttt>Gtt	p.F45V	LAMTOR2_ENST00000368304.5_5'Flank|LAMTOR2_ENST00000368305.4_5'Flank|UBQLN4_ENST00000472638.1_5'UTR	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	45	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					TGAGCCTTAAACCTCCGGGAG	0.547																																						ENST00000368309.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16						c.(133-135)Ttt>Gtt		ubiquilin 4							74.0	64.0	68.0					1																	156021624		2203	4300	6503	SO:0001583	missense	56893					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	g.chr1:156021624A>C	BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"""Ubiquilin family"""	1237	protein-coding gene	gene with protein product	"""ataxin-1 ubiquitin-like interacting protein"""	605440	"""chromosome 1 open reading frame 6"""	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.133T>G	1.37:g.156021624A>C	ENSP00000357292:p.Phe45Val					UBQLN4_ENST00000368307.1_Missense_Mutation_p.F45V|UBQLN4_ENST00000472638.1_5'UTR	p.F45V	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN			2	225	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		45			Ubiquitin-like.		A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Missense_Mutation	SNP	ENST00000368309.3	37	c.133T>G	CCDS1127.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224324	0.79576	.	.	ENSG00000160803	ENST00000368309;ENST00000368307	T;T	0.72942	-0.7;-0.7	5.04	5.04	0.67666	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.73055	0.3538	L	0.49455	1.56	0.80722	D	1	D;D	0.62365	0.991;0.991	D;D	0.76575	0.988;0.988	T	0.72090	-0.4395	10	0.33141	T	0.24	-10.4704	13.7512	0.62908	1.0:0.0:0.0:0.0	.	45;45	B4DZF6;Q9NRR5	.;UBQL4_HUMAN	V	45	ENSP00000357292:F45V;ENSP00000357290:F45V	ENSP00000357290:F45V	F	-	1	0	UBQLN4	154288248	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.129000	0.94430	2.116000	0.64780	0.459000	0.35465	TTT		0.547	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131		19	43	0	0	0	1	0	19	43				
CHST7	56548	broad.mit.edu	37	X	46434414	46434414	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:46434414G>A	ENST00000276055.3	+	1	1196	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	350					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|N-acetylglucosamine metabolic process (GO:0006044)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						GGTGATCTGCGAAGCCTGGCT	0.751																																						ENST00000276055.3																			0				breast(3)|endometrium(2)|kidney(1)|lung(2)	8						c.(1048-1050)Gaa>Aaa		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7							4.0	5.0	4.0					X																	46434414		1474	2901	4375	SO:0001583	missense	56548				chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity	g.chrX:46434414G>A	AB040711	CCDS14268.1	Xp11.3	2008-02-05			ENSG00000147119	ENSG00000147119		"""Sulfotransferases, membrane-bound"""	13817	protein-coding gene	gene with protein product		300375				10781596	Standard	NM_019886		Approved	C6ST-2, C6ST2	uc004dgt.3	Q9NS84	OTTHUMG00000021423	ENST00000276055.3:c.1048G>A	X.37:g.46434414G>A	ENSP00000276055:p.Glu350Lys						p.E350K	NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN			1	1196	+			350					O75667	Missense_Mutation	SNP	ENST00000276055.3	37	c.1048G>A	CCDS14268.1	.	.	.	.	.	.	.	.	.	.	g	12.64	1.998005	0.35226	.	.	ENSG00000147119	ENST00000276055	D	0.84070	-1.8	4.12	4.12	0.48240	Sulfotransferase domain (1);	0.154049	0.41194	U	0.000921	T	0.76350	0.3975	L	0.28608	0.87	0.34824	D	0.738963	D	0.59357	0.985	P	0.50405	0.64	T	0.76539	-0.2922	10	0.14252	T	0.57	-26.9875	9.7521	0.40481	0.0:0.3493:0.6507:0.0	.	350	Q9NS84	CHST7_HUMAN	K	350	ENSP00000276055:E350K	ENSP00000276055:E350K	E	+	1	0	CHST7	46319358	1.000000	0.71417	0.998000	0.56505	0.362000	0.29581	3.228000	0.51270	1.903000	0.55091	0.373000	0.22412	GAA		0.751	CHST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056362.1	NM_019886		3	7	0	0	0	1	0	3	7				
TANC1	85461	broad.mit.edu	37	2	160028677	160028677	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:160028677C>A	ENST00000263635.6	+	11	1634	c.1397C>A	c.(1396-1398)cCg>cAg	p.P466Q	TANC1_ENST00000454300.1_Missense_Mutation_p.P360Q	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	466					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTGCTTTCACCGAGTTCTTCC	0.473																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(1396-1398)cCg>cAg		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							113.0	113.0	113.0					2																	160028677		1921	4144	6065	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160028677C>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1397C>A	2.37:g.160028677C>A	ENSP00000263635:p.Pro466Gln					TANC1_ENST00000454300.1_Missense_Mutation_p.P360Q	p.P466Q	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			11	1634	+			466					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.1397C>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582990	0.28268	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.70164	-0.45;-0.46	5.66	5.66	0.87406	.	0.161451	0.56097	D	0.000031	T	0.63546	0.2520	L	0.51422	1.61	0.39487	D	0.96798	P;P;P	0.49862	0.929;0.858;0.453	B;B;B	0.44163	0.258;0.443;0.143	T	0.68720	-0.5334	10	0.56958	D	0.05	.	12.6754	0.56891	0.0:0.9241:0.0:0.0759	.	458;360;466	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	Q	360;466	ENSP00000396339:P360Q;ENSP00000263635:P466Q	ENSP00000263635:P466Q	P	+	2	0	TANC1	159736923	0.994000	0.37717	0.974000	0.42286	0.088000	0.18126	3.322000	0.52007	2.669000	0.90835	0.591000	0.81541	CCG		0.473	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			14	65	1	0	9.16793e-09	1	9.46157e-09	14	65				
JPH4	84502	broad.mit.edu	37	14	24040173	24040173	+	Silent	SNP	G	G	A	rs549886279		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:24040173G>A	ENST00000397118.3	-	6	2669	c.1767C>T	c.(1765-1767)ctC>ctT	p.L589L	RP11-66N24.3_ENST00000555968.1_RNA|JPH4_ENST00000544177.1_Silent_p.L254L|JPH4_ENST00000356300.4_Silent_p.L589L|AP1G2_ENST00000308724.5_5'Flank	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	589					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)		CGGGCTCCCCGAGCTCTTCTG	0.667													G|||	1	0.000199681	0.0	0.0014	5008	,	,		12223	0.0		0.0	False		,,,				2504	0.0					ENST00000397118.3																			0				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1765-1767)ctC>ctT		junctophilin 4							23.0	26.0	25.0					14																	24040173		2203	4299	6502	SO:0001819	synonymous_variant	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040173G>A	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.1767C>T	14.37:g.24040173G>A						JPH4_ENST00000544177.1_Silent_p.L254L|JPH4_ENST00000356300.4_Silent_p.L589L	p.L589L	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2669	-	all_cancers(95;0.000251)		589					D3DS53|Q8ND44|Q96DQ0	Silent	SNP	ENST00000397118.3	37	c.1767C>T	CCDS9603.1																																																																																				0.667	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		12	32	0	0	0	1	0	12	32				
C3orf14	57415	broad.mit.edu	37	3	62307621	62307621	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:62307621A>G	ENST00000494481.1	+	4	384	c.70A>G	c.(70-72)Atg>Gtg	p.M24V	PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|C3orf14_ENST00000232519.5_Missense_Mutation_p.M24V|C3orf14_ENST00000486169.1_3'UTR|C3orf14_ENST00000462069.1_Missense_Mutation_p.M24V|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000542214.1_Missense_Mutation_p.M24V			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	24										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		ACAAAGATTAATGTTACTTCA	0.299																																						ENST00000494481.1																			0				central_nervous_system(1)|large_intestine(1)|lung(1)	3						c.(70-72)Atg>Gtg		chromosome 3 open reading frame 14							50.0	54.0	53.0					3																	62307621		2202	4295	6497	SO:0001583	missense	57415							g.chr3:62307621A>G	AF236158	CCDS2896.1	3p14.2	2011-11-29			ENSG00000114405	ENSG00000114405			25024	protein-coding gene	gene with protein product						12477932	Standard	XM_005265338		Approved	HT021	uc003dlg.3	Q9HBI5	OTTHUMG00000158704	ENST00000494481.1:c.70A>G	3.37:g.62307621A>G	ENSP00000418086:p.Met24Val					PTPRG-AS1_ENST00000490916.1_RNA|C3orf14_ENST00000232519.5_Missense_Mutation_p.M24V|C3orf14_ENST00000462069.1_Missense_Mutation_p.M24V|C3orf14_ENST00000542214.1_Missense_Mutation_p.M24V|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000486169.1_3'UTR	p.M24V			Q9HBI5	CC014_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)	4	384	+			24					B2R9U0	Missense_Mutation	SNP	ENST00000494481.1	37	c.70A>G	CCDS2896.1	.	.	.	.	.	.	.	.	.	.	A	9.099	1.003758	0.19199	.	.	ENSG00000114405	ENST00000462069;ENST00000232519;ENST00000465142;ENST00000494481;ENST00000542214	.	.	.	6.03	3.55	0.40652	.	0.465903	0.23539	N	0.047097	T	0.29588	0.0738	L	0.60455	1.87	0.27024	N	0.964406	B	0.09022	0.002	B	0.13407	0.009	T	0.35624	-0.9781	9	0.02654	T	1	-12.8703	4.8274	0.13423	0.6147:0.1771:0.2081:0.0	.	24	Q9HBI5	CC014_HUMAN	V	24	.	ENSP00000232519:M24V	M	+	1	0	C3orf14	62282661	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.555000	0.36277	1.113000	0.41760	0.533000	0.62120	ATG		0.299	C3orf14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351807.1	NM_020685		12	28	0	0	0	1	0	12	28				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	74	1	0	0.184627	1	0.184914	5	74				
RASGRF2	5924	broad.mit.edu	37	5	80369244	80369244	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:80369244A>G	ENST00000265080.4	+	5	927	c.860A>G	c.(859-861)gAc>gGc	p.D287G	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	287	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATCAGCCACGACGACGTCAGC	0.463																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(859-861)gAc>gGc		Ras protein-specific guanine nucleotide-releasing factor 2							70.0	69.0	69.0					5																	80369244		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80369244A>G	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.860A>G	5.37:g.80369244A>G	ENSP00000265080:p.Asp287Gly					RASGRF2_ENST00000502677.1_3'UTR	p.D287G	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	5	927	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	287			DH.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.860A>G	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.711474	0.89112	.	.	ENSG00000113319	ENST00000265080	T	0.64260	-0.09	5.3	5.3	0.74995	Dbl homology (DH) domain (5);	0.093058	0.64402	D	0.000001	T	0.74974	0.3787	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.987	D;D	0.75484	0.986;0.931	T	0.76462	-0.2950	10	0.54805	T	0.06	.	15.541	0.76048	1.0:0.0:0.0:0.0	.	287;287	D6RAS9;O14827	.;RGRF2_HUMAN	G	287	ENSP00000265080:D287G	ENSP00000265080:D287G	D	+	2	0	RASGRF2	80405000	1.000000	0.71417	0.577000	0.28562	0.754000	0.42855	9.287000	0.95975	2.123000	0.65237	0.391000	0.25812	GAC		0.463	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		11	74	0	0	0	1	0	11	74				
FAM220A	84792	broad.mit.edu	37	7	6370604	6370604	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:6370604A>G	ENST00000313324.4	-	2	649	c.182T>C	c.(181-183)tTa>tCa	p.L61S	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	61						nucleus (GO:0005634)											TTCCAGTGATAATGCCTCACT	0.512																																						ENST00000313324.4																			0											c.(181-183)tTa>tCa		family with sequence similarity 220, member A							44.0	44.0	44.0					7																	6370604		2202	4300	6502	SO:0001583	missense	84792					nucleus		g.chr7:6370604A>G	BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397			22422	protein-coding gene	gene with protein product	"""STAT3-interacting protein as a repressor"""		"""chromosome 7 open reading frame 70"""	C7orf70			Standard	NM_001037163		Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.182T>C	7.37:g.6370604A>G	ENSP00000317289:p.Leu61Ser						p.L61S	NM_001037163.1	NP_001032240.1	Q7Z4H9	SIPAR_HUMAN			2	649	-			61					Q75ML2|Q8NA52|Q9BRR7	Missense_Mutation	SNP	ENST00000313324.4	37	c.182T>C	CCDS34599.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763230	0.49574	.	.	ENSG00000178397	ENST00000313324;ENST00000524898;ENST00000530143	T;T;T	0.07908	3.15;3.15;3.15	5.32	1.69	0.24217	.	0.843896	0.09532	U	0.789345	T	0.07863	0.0197	L	0.43152	1.355	0.09310	N	1	B	0.33318	0.408	B	0.31751	0.135	T	0.38520	-0.9657	10	0.32370	T	0.25	-0.8482	7.1826	0.25780	0.731:0.0:0.269:0.0	.	61	Q7Z4H9	SIPAR_HUMAN	S	61	ENSP00000317289:L61S;ENSP00000432444:L61S;ENSP00000436886:L61S	ENSP00000317289:L61S	L	-	2	0	C7orf70	6337129	0.001000	0.12720	0.000000	0.03702	0.053000	0.15095	0.810000	0.27183	0.057000	0.16193	0.533000	0.62120	TTA		0.512	FAM220A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000242853.2	NM_001037163		12	80	0	0	0	1	0	12	80				
LRRN3	54674	broad.mit.edu	37	7	110764429	110764429	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:110764429C>T	ENST00000422987.3	+	2	2432	c.1601C>T	c.(1600-1602)gCc>gTc	p.A534V	IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.A534V|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.A534V|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	534	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GATATTCAGGCCAATTCAGTT	0.373																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1600-1602)gCc>gTc		leucine rich repeat neuronal 3							63.0	64.0	64.0					7																	110764429		2201	4300	6501	SO:0001583	missense	54674					integral to membrane		g.chr7:110764429C>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1601C>T	7.37:g.110764429C>T	ENSP00000412417:p.Ala534Val					IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.A534V|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.A534V	p.A534V	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2647	+			534			Fibronectin type-III.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.1601C>T	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696300	0.48202	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.58940	0.3;0.3;0.3	6.17	5.29	0.74685	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.098188	0.45126	D	0.000396	T	0.42359	0.1199	N	0.19112	0.55	0.36310	D	0.857574	P	0.36354	0.549	B	0.31390	0.129	T	0.54761	-0.8245	10	0.51188	T	0.08	.	15.9972	0.80260	0.0:0.935:0.0:0.065	.	534	Q9H3W5	LRRN3_HUMAN	V	534	ENSP00000312001:A534V;ENSP00000397312:A534V;ENSP00000412417:A534V	ENSP00000312001:A534V	A	+	2	0	LRRN3	110551665	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.775000	0.68915	2.941000	0.99782	0.655000	0.94253	GCC		0.373	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		6	36	0	0	0	1	0	6	36				
SLC22A8	9376	broad.mit.edu	37	11	62782126	62782126	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:62782126T>C	ENST00000336232.2	-	2	440	c.305A>G	c.(304-306)aAc>aGc	p.N102S	SLC22A8_ENST00000311438.8_Missense_Mutation_p.N102S|SLC22A8_ENST00000430500.2_Missense_Mutation_p.N102S|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000545207.1_Missense_Mutation_p.N11S	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	102					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CTTGGTGCTGTTGTAGACCCA	0.602																																						ENST00000336232.2																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(304-306)aAc>aGc		solute carrier family 22 (organic anion transporter), member 8							147.0	145.0	146.0					11																	62782126		2201	4298	6499	SO:0001583	missense	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62782126T>C	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.305A>G	11.37:g.62782126T>C	ENSP00000337335:p.Asn102Ser					SLC22A8_ENST00000311438.8_Missense_Mutation_p.N102S|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000430500.2_Missense_Mutation_p.N102S|SLC22A8_ENST00000545207.1_Missense_Mutation_p.N11S	p.N102S	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN			2	440	-			102					B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.305A>G	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.221625	0.39300	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000311438;ENST00000430500	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.03	3.9	0.45041	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.386631	0.29745	N	0.011301	T	0.67785	0.2930	N	0.21282	0.65	0.23862	N	0.996632	B;B	0.18461	0.022;0.028	B;B	0.22880	0.025;0.042	T	0.59542	-0.7435	10	0.52906	T	0.07	.	8.861	0.35258	0.1873:0.0:0.0:0.8127	.	102;102	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	S	102;88;11;102;102	ENSP00000337335:N102S;ENSP00000441658:N11S;ENSP00000311463:N102S;ENSP00000398548:N102S	ENSP00000311463:N102S	N	-	2	0	SLC22A8	62538702	0.997000	0.39634	0.779000	0.31741	0.967000	0.64934	3.415000	0.52700	0.904000	0.36572	0.533000	0.62120	AAC		0.602	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		78	171	0	0	0	1	0	78	171				
HSF5	124535	broad.mit.edu	37	17	56565313	56565313	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:56565313A>G	ENST00000323777.3	-	1	432	c.323T>C	c.(322-324)cTc>cCc	p.L108P		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	108					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAAGTGATGGAGCGGCCCATT	0.682																																						ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(322-324)cTc>cCc		heat shock transcription factor family member 5							36.0	39.0	38.0					17																	56565313		2202	4297	6499	SO:0001583	missense	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56565313A>G	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.323T>C	17.37:g.56565313A>G	ENSP00000313243:p.Leu108Pro						p.L108P	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			1	432	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		108					Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	c.323T>C	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	A	3.422	-0.118033	0.06838	.	.	ENSG00000176160	ENST00000323777	D	0.90676	-2.71	3.22	2.09	0.27110	Winged helix-turn-helix transcription repressor DNA-binding (1);Heat shock factor (HSF)-type, DNA-binding (2);	0.206931	0.23474	N	0.047785	D	0.83459	0.5259	L	0.37507	1.11	0.53005	D	0.99996	B	0.19445	0.036	B	0.24541	0.054	T	0.72577	-0.4251	9	.	.	.	.	8.5938	0.33703	0.8046:0.1954:0.0:0.0	.	108	Q4G112	HSF5_HUMAN	P	108	ENSP00000313243:L108P	.	L	-	2	0	HSF5	53920312	0.998000	0.40836	0.557000	0.28306	0.008000	0.06430	1.760000	0.38430	0.441000	0.26529	-0.666000	0.03841	CTC		0.682	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		12	31	0	0	0	1	0	12	31				
RPS25	6230	broad.mit.edu	37	11	118888739	118888739	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:118888739T>C	ENST00000527673.1	-	2	433	c.28A>G	c.(28-30)Aag>Gag	p.K10E	TRAPPC4_ENST00000434101.2_5'Flank|TRAPPC4_ENST00000525303.1_5'Flank|RPS25_ENST00000528547.1_5'UTR|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000533058.1_5'Flank|TRAPPC4_ENST00000359005.4_5'Flank|TRAPPC4_ENST00000533632.1_5'Flank|TRAPPC4_ENST00000528230.1_5'Flank	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	10					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)		CCAGCGTCCTTCTTCTTCTTG	0.532																																						ENST00000527673.1																			0				endometrium(1)	1						c.(28-30)Aag>Gag		ribosomal protein S25							127.0	130.0	129.0					11																	118888739		2200	4295	6495	SO:0001583	missense	6230				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding	g.chr11:118888739T>C	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.28A>G	11.37:g.118888739T>C	ENSP00000435096:p.Lys10Glu					RPS25_ENST00000528547.1_5'UTR	p.K10E	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	2	433	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	10					B2R4M7|P25111	Missense_Mutation	SNP	ENST00000527673.1	37	c.28A>G	CCDS8406.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.593532	0.46214	.	.	ENSG00000118181	ENST00000527673	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	M	0.76002	2.32	0.44337	D	0.997224	B	0.21905	0.062	B	0.17979	0.02	T	0.62891	-0.6758	9	0.21014	T	0.42	-4.59	15.6078	0.76689	0.0:0.0:0.0:1.0	.	10	P62851	RS25_HUMAN	E	10	.	ENSP00000435096:K10E	K	-	1	0	RPS25	118393949	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	6.090000	0.71397	2.096000	0.63516	0.533000	0.62120	AAG		0.532	RPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389324.1	NM_001028		47	104	0	0	0	1	0	47	104				
DNM1P47	100216544	broad.mit.edu	37	15	102304793	102304793	+	RNA	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:102304793A>C	ENST00000561463.1	+	0	12839									DNM1 pseudogene 47																		GCGTGGGAAGAAGAAGACACT	0.592																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102304793A>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304793A>C														0	12839	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	18	0	0	0	1	0	3	18				
DEPDC5	9681	broad.mit.edu	37	22	32200867	32200867	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:32200867G>A	ENST00000382112.3	+	16	1253	c.1183G>A	c.(1183-1185)Gat>Aat	p.D395N	DEPDC5_ENST00000536766.1_Missense_Mutation_p.D367N|DEPDC5_ENST00000535622.1_Missense_Mutation_p.D395N|DEPDC5_ENST00000266091.3_Missense_Mutation_p.D395N|DEPDC5_ENST00000400249.2_Missense_Mutation_p.D395N|DEPDC5_ENST00000400246.1_Missense_Mutation_p.D395N|DEPDC5_ENST00000400248.2_Missense_Mutation_p.D395N|DEPDC5_ENST00000382105.2_Missense_Mutation_p.D395N|DEPDC5_ENST00000382111.2_Missense_Mutation_p.D395N|DEPDC5_ENST00000400242.3_Missense_Mutation_p.D395N	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	395					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCGTCTGGGCGATGACTATAA	0.453																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1183-1185)Gat>Aat		DEP domain containing 5							206.0	194.0	198.0					22																	32200867		1909	4135	6044	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32200867G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1183G>A	22.37:g.32200867G>A	ENSP00000371546:p.Asp395Asn					DEPDC5_ENST00000400249.2_Missense_Mutation_p.D395N|DEPDC5_ENST00000536766.1_Missense_Mutation_p.D367N|DEPDC5_ENST00000382105.2_Missense_Mutation_p.D395N|DEPDC5_ENST00000266091.3_Missense_Mutation_p.D395N|DEPDC5_ENST00000535622.1_Missense_Mutation_p.D395N|DEPDC5_ENST00000382112.3_Missense_Mutation_p.D395N|DEPDC5_ENST00000400242.3_Missense_Mutation_p.D395N|DEPDC5_ENST00000400248.1_Missense_Mutation_p.D395N|DEPDC5_ENST00000382111.2_Missense_Mutation_p.D395N	p.D395N			O75140	DEPD5_HUMAN			17	1325	+			395					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.1183G>A	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503592	0.85176	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.48201	1.34;1.36;0.82;1.73;1.73;1.7;1.33;1.72;1.7;1.73	5.02	5.02	0.67125	.	0.096164	0.64402	D	0.000002	T	0.65080	0.2657	M	0.68593	2.085	0.80722	D	1	D;D;D;P;D;P	0.89917	1.0;1.0;0.957;0.622;1.0;0.534	D;D;B;B;D;B	0.66716	0.946;0.934;0.267;0.067;0.926;0.091	T	0.61715	-0.7006	10	0.26408	T	0.33	.	17.4126	0.87491	0.0:0.0:1.0:0.0	.	395;367;395;395;395;395	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	N	395;367;395;395;395;395;395;395;395;395;395	ENSP00000440210:D395N;ENSP00000441358:D367N;ENSP00000383101:D395N;ENSP00000266091:D395N;ENSP00000383108:D395N;ENSP00000383105:D395N;ENSP00000371539:D395N;ENSP00000371546:D395N;ENSP00000371545:D395N;ENSP00000383107:D395N	ENSP00000266091:D395N	D	+	1	0	DEPDC5	30530867	1.000000	0.71417	0.942000	0.38095	0.986000	0.74619	8.755000	0.91646	2.340000	0.79590	0.543000	0.68304	GAT		0.453	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		53	180	0	0	0	1	0	53	180				
TPCN1	53373	broad.mit.edu	37	12	113711398	113711398	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:113711398C>T	ENST00000335509.6	+	10	1181	c.867C>T	c.(865-867)tcC>tcT	p.S289S	TPCN1_ENST00000392569.4_Silent_p.S221S|TPCN1_ENST00000550785.1_Silent_p.S361S|TPCN1_ENST00000541517.1_Silent_p.S361S	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	289					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TGATGCCCTCCTACTCCCGGA	0.542																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(1081-1083)tcC>tcT		two pore segment channel 1							326.0	237.0	267.0					12																	113711398		2203	4300	6503	SO:0001819	synonymous_variant	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113711398C>T	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.867C>T	12.37:g.113711398C>T						TPCN1_ENST00000541517.1_Silent_p.S361S|TPCN1_ENST00000392569.4_Silent_p.S221S|TPCN1_ENST00000335509.6_Silent_p.S289S	p.S361S	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			11	1252	+			289					A7E258|Q86XS9|Q8NC20	Silent	SNP	ENST00000335509.6	37	c.1083C>T	CCDS31908.1																																																																																				0.542	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		67	244	0	0	0	1	0	67	244				
FAM179A	165186	broad.mit.edu	37	2	29258406	29258406	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:29258406C>T	ENST00000379558.4	+	17	2653	c.2302C>T	c.(2302-2304)Cgg>Tgg	p.R768W	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.R713W	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	768										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGCAGCTACGGGAGCTGAC	0.662																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2302-2304)Cgg>Tgg		family with sequence similarity 179, member A							17.0	16.0	16.0					2																	29258406		2197	4294	6491	SO:0001583	missense	165186						binding	g.chr2:29258406C>T	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2302C>T	2.37:g.29258406C>T	ENSP00000368876:p.Arg768Trp					FAM179A_ENST00000403861.2_Missense_Mutation_p.R713W|FAM179A_ENST00000465300.1_3'UTR	p.R768W	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			17	2653	+			768					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.2302C>T	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459782	0.43736	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.14893	2.47;2.47	4.74	2.68	0.31781	Armadillo-like helical (1);Armadillo-type fold (1);	0.231983	0.29307	N	0.012538	T	0.34019	0.0883	L	0.60455	1.87	0.30813	N	0.738653	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.971;0.986;0.984	T	0.24621	-1.0155	10	0.87932	D	0	.	10.3646	0.44015	0.5988:0.4011:0.0:0.0	.	713;768;66	F8W8E4;Q6ZUX3;Q6ZUX3-3	.;F179A_HUMAN;.	W	768;713	ENSP00000368876:R768W;ENSP00000384699:R713W	ENSP00000368876:R768W	R	+	1	2	FAM179A	29111910	0.960000	0.32886	0.949000	0.38748	0.141000	0.21300	2.104000	0.41815	0.977000	0.38444	0.561000	0.74099	CGG		0.662	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		5	8	0	0	0	1	0	5	8				
SP3	6670	broad.mit.edu	37	2	174777830	174777830	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:174777830T>C	ENST00000310015.6	-	6	2527	c.1997A>G	c.(1996-1998)gAt>gGt	p.D666G	SP3_ENST00000418194.2_Missense_Mutation_p.D598G|SP3_ENST00000455789.2_Missense_Mutation_p.D613G	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	666					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CTGTAATTCATCACTTCGAGT	0.393																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(1996-1998)gAt>gGt		Sp3 transcription factor							106.0	98.0	101.0					2																	174777830		2203	4300	6503	SO:0001583	missense	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174777830T>C	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1997A>G	2.37:g.174777830T>C	ENSP00000310301:p.Asp666Gly					SP3_ENST00000455789.2_Missense_Mutation_p.D613G|SP3_ENST00000418194.2_Missense_Mutation_p.D598G	p.D666G	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		6	2527	-			666					A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	c.1997A>G	CCDS2254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.0|22.0	4.228840|4.228840	0.79576|0.79576	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194|ENST00000416195	T;T;T|.	0.36520|.	1.25;1.25;1.25|.	5.71|5.71	5.71|5.71	0.89125|0.89125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.31263|0.31263	0.0791|0.0791	N|N	0.02142|0.02142	-0.665|-0.665	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	T|T	0.34925|0.34925	-0.9809|-0.9809	10|5	0.87932|.	D|.	0|.	.|.	15.979|15.979	0.80091|0.80091	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	663;666;613|.	B7ZLN9;Q02447;Q02447-6|.	.;SP3_HUMAN;.|.	G|V	666;613;598|623	ENSP00000310301:D666G;ENSP00000388903:D613G;ENSP00000406140:D598G|.	ENSP00000310301:D666G|.	D|M	-|-	2|1	0|0	SP3|SP3	174486076|174486076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.040000|8.040000	0.89188|0.89188	2.182000|2.182000	0.69389|0.69389	0.460000|0.460000	0.39030|0.39030	GAT|ATG		0.393	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		15	54	0	0	0	1	0	15	54				
ANKAR	150709	broad.mit.edu	37	2	190554370	190554370	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:190554370C>T	ENST00000520309.1	+	3	807	c.719C>T	c.(718-720)gCt>gTt	p.A240V	ANKAR_ENST00000431575.2_Missense_Mutation_p.A169V|ANKAR_ENST00000281412.6_Missense_Mutation_p.A4V|ANKAR_ENST00000438402.2_Missense_Mutation_p.A240V|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.A240V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	240						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATGAAATATGCTGAAAATATT	0.323																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(718-720)gCt>gTt		ankyrin and armadillo repeat containing							86.0	95.0	92.0					2																	190554370		2203	4298	6501	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190554370C>T	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.719C>T	2.37:g.190554370C>T	ENSP00000427882:p.Ala240Val					ANKAR_ENST00000438402.2_Missense_Mutation_p.A240V|ANKAR_ENST00000431575.2_Missense_Mutation_p.A169V|ANKAR_ENST00000281412.6_Missense_Mutation_p.A4V|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.A240V	p.A240V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		3	807	+			240					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.719C>T	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505653	0.26949	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.35973	1.31;1.31;1.28;1.32;1.49	5.97	4.16	0.48862	.	0.474721	0.19932	N	0.102838	T	0.17831	0.0428	N	0.16790	0.44	0.31179	N	0.702279	B	0.21071	0.051	B	0.14023	0.01	T	0.13255	-1.0516	10	0.02654	T	1	-14.3793	10.0806	0.42388	0.0:0.8291:0.0:0.1709	.	240	Q7Z5J8	ANKAR_HUMAN	V	240;240;240;169;4	ENSP00000427882:A240V;ENSP00000313513:A240V;ENSP00000397243:A240V;ENSP00000393043:A169V;ENSP00000281412:A4V	ENSP00000281412:A4V	A	+	2	0	ANKAR	190262615	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.748000	0.26305	2.836000	0.97738	0.655000	0.94253	GCT		0.323	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		4	94	0	0	0	1	0	4	94				
OR5M9	390162	broad.mit.edu	37	11	56230001	56230001	+	Nonsense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:56230001T>A	ENST00000279791.1	-	1	876	c.877A>T	c.(877-879)Aag>Tag	p.K293*		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TTTACATCCTTATTTCTCAGA	0.413																																						ENST00000279791.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(877-879)Aag>Tag		olfactory receptor, family 5, subfamily M, member 9							127.0	115.0	119.0					11																	56230001		2201	4296	6497	SO:0001587	stop_gained	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230001T>A	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.877A>T	11.37:g.56230001T>A	ENSP00000279791:p.Lys293*						p.K293*	NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN			1	876	-	Esophageal squamous(21;0.00448)		293					Q6IEW5|Q96RB9	Nonsense_Mutation	SNP	ENST00000279791.1	37	c.877A>T	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	T	6.111	0.388798	0.11581	.	.	ENSG00000150269	ENST00000279791	.	.	.	4.3	4.3	0.51218	.	0.150663	0.30383	N	0.009753	.	.	.	.	.	.	0.42224	D	0.991861	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.99	6.7197	0.23323	0.0:0.1094:0.0:0.8906	.	.	.	.	X	293	.	ENSP00000279791:K293X	K	-	1	0	OR5M9	55986577	0.376000	0.25098	0.990000	0.47175	0.041000	0.13682	1.447000	0.35101	1.711000	0.51337	0.448000	0.29417	AAG		0.413	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		6	88	0	0	0	1	0	6	88				
TSKU	25987	broad.mit.edu	37	11	76507404	76507404	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:76507404T>C	ENST00000527881.1	+	2	1770	c.744T>C	c.(742-744)agT>agC	p.S248S	TSKU_ENST00000333090.4_Silent_p.S248S			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	248			S -> N (in dbSNP:rs11236938).		anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					TGGCGCCCAGTGGCTTCCGTG	0.652																																						ENST00000527881.1																			0				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12						c.(742-744)agT>agC		tsukushi, small leucine rich proteoglycan							51.0	57.0	55.0					11																	76507404		2195	4286	6481	SO:0001819	synonymous_variant	25987					extracellular region		g.chr11:76507404T>C	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.744T>C	11.37:g.76507404T>C						TSKU_ENST00000333090.4_Silent_p.S248S	p.S248S			Q8WUA8	TSK_HUMAN			2	1770	+	Ovarian(111;0.112)		248		S -> N (in dbSNP:rs11236938).			B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Silent	SNP	ENST00000527881.1	37	c.744T>C	CCDS8246.1																																																																																				0.652	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1	NM_015516		15	197	0	0	0	1	0	15	197				
GABRA1	2554	broad.mit.edu	37	5	161324371	161324371	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:161324371C>T	ENST00000428797.2	+	11	1669	c.1314C>T	c.(1312-1314)taC>taT	p.Y438Y	GABRA1_ENST00000420560.1_Silent_p.Y438Y|GABRA1_ENST00000023897.6_Silent_p.Y438Y|GABRA1_ENST00000393943.4_Silent_p.Y438Y|GABRA1_ENST00000437025.2_Silent_p.Y438Y|GABRA1_ENST00000444819.1_Silent_p.Y438Y	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	438					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	ACTTAGTCTACTGGGCTACGT	0.433																																						ENST00000428797.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1312-1314)taC>taT		gamma-aminobutyric acid (GABA) A receptor, alpha 1	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						124.0	128.0	127.0					5																	161324371		2203	4300	6503	SO:0001819	synonymous_variant	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324371C>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1314C>T	5.37:g.161324371C>T						GABRA1_ENST00000444819.1_Silent_p.Y438Y|GABRA1_ENST00000393943.4_Silent_p.Y438Y|GABRA1_ENST00000420560.1_Silent_p.Y438Y|GABRA1_ENST00000023897.6_Silent_p.Y438Y|GABRA1_ENST00000437025.2_Silent_p.Y438Y	p.Y438Y	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	11	1669	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	438					D3DQK6|Q8N629	Silent	SNP	ENST00000428797.2	37	c.1314C>T	CCDS4357.1																																																																																				0.433	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		43	133	0	0	0	1	0	43	133				
DPYSL4	10570	broad.mit.edu	37	10	134017276	134017276	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:134017276T>A	ENST00000338492.4	+	13	1636	c.1472T>A	c.(1471-1473)aTc>aAc	p.I491N	DPYSL4_ENST00000368627.1_Missense_Mutation_p.I331N|DPYSL4_ENST00000368629.1_Missense_Mutation_p.I331N	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	491					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CTGGCGGAGATCCACGGTGTG	0.716																																						ENST00000338492.4																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1471-1473)aTc>aAc		dihydropyrimidinase-like 4							33.0	36.0	35.0					10																	134017276		2202	4298	6500	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134017276T>A	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1472T>A	10.37:g.134017276T>A	ENSP00000339850:p.Ile491Asn					DPYSL4_ENST00000368629.1_Missense_Mutation_p.I331N|DPYSL4_ENST00000368627.1_Missense_Mutation_p.I331N	p.I491N	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	13	1636	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	491					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.1472T>A	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	T	10.48	1.361995	0.24684	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.89939	-2.0;-2.59;-2.59	3.78	3.78	0.43462	Metal-dependent hydrolase, composite domain (1);	0.291406	0.32703	N	0.005748	D	0.83275	0.5219	L	0.54323	1.7	0.34826	D	0.739184	P	0.44946	0.846	B	0.35727	0.209	D	0.85812	0.1380	10	0.25751	T	0.34	-28.5815	12.7228	0.57152	0.0:0.0:0.0:1.0	.	491	O14531	DPYL4_HUMAN	N	491;331;331	ENSP00000339850:I491N;ENSP00000357618:I331N;ENSP00000357616:I331N	ENSP00000339850:I491N	I	+	2	0	DPYSL4	133867266	0.997000	0.39634	1.000000	0.80357	0.060000	0.15804	2.846000	0.48262	1.580000	0.49851	0.378000	0.23410	ATC		0.716	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			22	67	0	0	0	1	0	22	67				
NTN5	126147	broad.mit.edu	37	19	49167911	49167911	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:49167911G>A	ENST00000270235.4	-	3	840	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	249	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.					extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						TGGCAGTGCCGCCCAGCTGTG	0.662																																						ENST00000270235.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						c.(745-747)Cgg>Tgg		netrin 5							29.0	26.0	27.0					19																	49167911		2203	4300	6503	SO:0001583	missense	126147					extracellular region		g.chr19:49167911G>A		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.745C>T	19.37:g.49167911G>A	ENSP00000270235:p.Arg249Trp					SEC1P_ENST00000430145.2_RNA	p.R249W	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN			3	840	-			249			Laminin EGF-like 2.		Q8N4X9|Q8WU63	Missense_Mutation	SNP	ENST00000270235.4	37	c.745C>T	CCDS33068.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298900	0.81025	.	.	ENSG00000142233	ENST00000270235	T	0.64085	-0.08	5.01	2.79	0.32731	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.84415	0.5467	H	0.96943	3.91	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	D	0.87513	0.2441	10	0.87932	D	0	.	12.1395	0.53991	0.0:0.0:0.6886:0.3114	.	249;249	Q8WTR8-2;Q8WTR8	.;NET5_HUMAN	W	249	ENSP00000270235:R249W	ENSP00000270235:R249W	R	-	1	2	NTN5	53859723	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	4.360000	0.59455	0.608000	0.30000	0.555000	0.69702	CGG		0.662	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		8	24	0	0	0	1	0	8	24				
SDF4	51150	broad.mit.edu	37	1	1154154	1154154	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:1154154T>C	ENST00000360001.6	-	5	993	c.731A>G	c.(730-732)gAc>gGc	p.D244G	SDF4_ENST00000263741.7_Missense_Mutation_p.D244G			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	244	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)	p.D244G(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	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)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CTCACCCAGGTCCCGGACGAT	0.692																																						ENST00000263741.7																			2	Substitution - Missense(2)	p.D244G(2)	lung(2)	endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(730-732)gAc>gGc		stromal cell derived factor 4							63.0	70.0	67.0					1																	1154154		2203	4300	6503	SO:0001583	missense	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	g.chr1:1154154T>C		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.731A>G	1.37:g.1154154T>C	ENSP00000353094:p.Asp244Gly					SDF4_ENST00000360001.6_Missense_Mutation_p.D244G	p.D244G	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	5	1023	-	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)	244			EF-hand 4.		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	ENST00000360001.6	37	c.731A>G	CCDS30553.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.814330	0.50527	.	.	ENSG00000078808	ENST00000360001;ENST00000263741	T;T	0.21031	2.03;2.03	4.55	4.55	0.56014	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.41834	0.1176	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;0.972	D;P	0.97110	1.0;0.878	T	0.33471	-0.9867	10	0.72032	D	0.01	-44.947	13.0608	0.59005	0.0:0.0:0.0:1.0	.	244;244	Q9BRK5-6;Q9BRK5	.;CAB45_HUMAN	G	244	ENSP00000353094:D244G;ENSP00000263741:D244G	ENSP00000263741:D244G	D	-	2	0	SDF4	1144017	1.000000	0.71417	0.999000	0.59377	0.789000	0.44602	5.940000	0.70187	1.672000	0.50884	0.254000	0.18369	GAC		0.692	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		42	153	0	0	0	1	0	42	153				
AKAP12	9590	broad.mit.edu	37	6	151673725	151673725	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:151673725T>C	ENST00000253332.1	+	3	4388	c.4199T>C	c.(4198-4200)cTa>cCa	p.L1400P	AKAP12_ENST00000402676.2_Missense_Mutation_p.L1400P|AKAP12_ENST00000359755.5_Missense_Mutation_p.L1295P|AKAP12_ENST00000354675.6_Missense_Mutation_p.L1302P			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1400					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)		CCTCCCTGCCTAGGTCAAGAG	0.507																																					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.(4198-4200)cTa>cCa		A kinase (PRKA) anchor protein 12							65.0	66.0	66.0					6																	151673725		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.chr6:151673725T>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.4199T>C	6.37:g.151673725T>C	ENSP00000253332:p.Leu1400Pro					AKAP12_ENST00000359755.5_Missense_Mutation_p.L1295P|AKAP12_ENST00000253332.1_Missense_Mutation_p.L1400P|AKAP12_ENST00000354675.6_Missense_Mutation_p.L1302P	p.L1400P	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	4439	+		Ovarian(120;0.125)	1400					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.4199T>C	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	T	5.645	0.303584	0.10678	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	4.44	-0.923	0.10465	.	1.480890	0.05073	N	0.482044	T	0.01387	0.0045	N	0.14661	0.345	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.002	B;B;B	0.14578	0.011;0.011;0.005	T	0.48364	-0.9042	10	0.25751	T	0.34	.	6.85	0.24010	0.0:0.4599:0.1373:0.4028	.	1295;1302;1400	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	P	1400;1400;1302;1295	ENSP00000384537:L1400P;ENSP00000253332:L1400P;ENSP00000346702:L1302P;ENSP00000352794:L1295P	ENSP00000253332:L1400P	L	+	2	0	AKAP12	151715418	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.344000	0.07780	-0.568000	0.06038	-2.593000	0.00164	CTA		0.507	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			27	90	0	0	0	1	0	27	90				
CCDC141	285025	broad.mit.edu	37	2	179720089	179720089	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179720089C>A	ENST00000420890.2	-	19	3162	c.3045G>T	c.(3043-3045)caG>caT	p.Q1015H	CCDC141_ENST00000295723.5_Missense_Mutation_p.Q440H	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1015										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTATCACCTCCTGGAAATGCT	0.363																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(3043-3045)caG>caT		coiled-coil domain containing 141							109.0	100.0	103.0					2																	179720089		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179720089C>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3045G>T	2.37:g.179720089C>A	ENSP00000395995:p.Gln1015His					CCDC141_ENST00000295723.5_Missense_Mutation_p.Q440H	p.Q1015H	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		19	3162	-			440					H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.3045G>T		.	.	.	.	.	.	.	.	.	.	C	15.80	2.939456	0.52972	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.35605	1.3;1.3;1.3	5.09	0.907	0.19321	.	0.000000	0.48767	D	0.000161	T	0.30293	0.0760	L	0.34521	1.04	0.28537	N	0.91231	D	0.56521	0.976	P	0.53006	0.715	T	0.19614	-1.0300	10	0.21540	T	0.41	-10.7187	5.596	0.17327	0.1205:0.5096:0.0:0.3699	.	440	Q6ZP82	CC141_HUMAN	H	1015;459;440	ENSP00000395995:Q1015H;ENSP00000344627:Q459H;ENSP00000295723:Q440H	ENSP00000295723:Q440H	Q	-	3	2	CCDC141	179428334	0.630000	0.27155	0.990000	0.47175	0.942000	0.58702	-0.294000	0.08309	-0.047000	0.13423	0.655000	0.94253	CAG		0.363	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		25	75	1	0	2.12542e-12	1	2.21375e-12	25	75				
EPHA3	2042	broad.mit.edu	37	3	89456441	89456441	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:89456441T>C	ENST00000336596.2	+	8	1842	c.1617T>C	c.(1615-1617)agT>agC	p.S539S	EPHA3_ENST00000494014.1_Silent_p.S539S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	539					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTGGTGAAAGTAGCCAAGTGG	0.398										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(1615-1617)agT>agC		EPH receptor A3							153.0	133.0	139.0					3																	89456441		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89456441T>C	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1617T>C	3.37:g.89456441T>C		TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Silent_p.S539S	p.S539S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	8	1842	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	539					Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.1617T>C	CCDS2922.1																																																																																				0.398	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		7	46	0	0	0	1	0	7	46				
TRMT1	55621	broad.mit.edu	37	19	13223788	13223788	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:13223788A>G	ENST00000592062.1	-	7	1249	c.679T>C	c.(679-681)Ttt>Ctt	p.F227L	TRMT1_ENST00000221504.8_Missense_Mutation_p.F227L|TRMT1_ENST00000437766.1_Missense_Mutation_p.F227L|TRMT1_ENST00000592892.1_5'Flank|TRMT1_ENST00000357720.4_Missense_Mutation_p.F227L			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	227	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		ATGACGTCAAACCTCTCCGAC	0.612																																						ENST00000592062.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(679-681)Ttt>Ctt		tRNA methyltransferase 1 homolog (S. cerevisiae)							101.0	86.0	91.0					19																	13223788		2203	4300	6503	SO:0001583	missense	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13223788A>G	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.679T>C	19.37:g.13223788A>G	ENSP00000466967:p.Phe227Leu					TRMT1_ENST00000221504.8_Missense_Mutation_p.F227L|TRMT1_ENST00000437766.1_Missense_Mutation_p.F227L|TRMT1_ENST00000357720.4_Missense_Mutation_p.F227L	p.F227L			Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	7	1249	-			227					O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	c.679T>C	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	A	32	5.173139	0.94807	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	4.89	4.89	0.63831	.	0.199452	0.45361	D	0.000376	T	0.80681	0.4669	M	0.90483	3.12	0.54753	D	0.999987	D;P	0.71674	0.998;0.89	D;P	0.65874	0.939;0.758	D	0.84657	0.0704	9	0.72032	D	0.01	-3.4795	12.4954	0.55925	1.0:0.0:0.0:0.0	.	227;227	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	L	227	.	ENSP00000221504:F227L	F	-	1	0	TRMT1	13084788	1.000000	0.71417	0.977000	0.42913	0.953000	0.61014	8.398000	0.90195	2.054000	0.61138	0.533000	0.62120	TTT		0.612	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		8	35	0	0	0	1	0	8	35				
NECAB1	64168	broad.mit.edu	37	8	91929728	91929728	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:91929728A>G	ENST00000417640.2	+	6	703	c.366A>G	c.(364-366)caA>caG	p.Q122Q		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	122						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			AGGACTACCAAGAAGCCTCCA	0.378																																						ENST00000417640.2																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12						c.(364-366)caA>caG		N-terminal EF-hand calcium binding protein 1							72.0	68.0	69.0					8																	91929728		1808	4067	5875	SO:0001819	synonymous_variant	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91929728A>G	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.366A>G	8.37:g.91929728A>G							p.Q122Q	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		6	703	+			122					Q6NUS7|Q96AZ7|Q9HBW8	Silent	SNP	ENST00000417640.2	37	c.366A>G	CCDS47889.1																																																																																				0.378	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		4	72	0	0	0	1	0	4	72				
SNHG14	104472715	broad.mit.edu	37	15	25415738	25415738	+	RNA	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:25415738G>A	ENST00000441592.2	+	0	0				SNORD115-1_ENST00000364961.1_RNA|SNHG14_ENST00000553149.1_RNA|SNORD115-2_ENST00000362842.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		GCCAGTGTCCGTCTGCCAGGT	0.622																																						ENST00000549301.1																			0																																																			104472715							g.chr15:25415738G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25415738G>A						SNHG14_ENST00000553149.1_RNA								0	252	+									RNA	SNP	ENST00000441592.2	37																																																																																						0.622	SNHG14-009	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126736.3			8	43	0	0	0	1	0	8	43				
CNTRL	11064	broad.mit.edu	37	9	123880772	123880772	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:123880772A>T	ENST00000373855.1	+	12	1864	c.1604A>T	c.(1603-1605)gAc>gTc	p.D535V	CNTRL_ENST00000238341.5_Missense_Mutation_p.D535V|CNTRL_ENST00000373850.1_5'UTR|CNTRL_ENST00000373865.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	535					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GAGATTAAGGACCTGCAAATA	0.388																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(1603-1605)gAc>gTc		centriolin							117.0	117.0	117.0					9																	123880772		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123880772A>T	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1604A>T	9.37:g.123880772A>T	ENSP00000362962:p.Asp535Val					CNTRL_ENST00000238341.5_Missense_Mutation_p.D535V|CNTRL_ENST00000373865.2_3'UTR|CNTRL_ENST00000373850.1_5'UTR	p.D535V			Q7Z7A1	CNTRL_HUMAN			12	1864	+			535					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.1604A>T	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024686	0.35701	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851	T;T	0.26810	1.71;1.71	5.31	1.59	0.23543	.	.	.	.	.	T	0.23806	0.0576	L	0.53249	1.67	0.09310	N	0.999998	P;P	0.45827	0.867;0.79	B;B	0.43103	0.408;0.231	T	0.10109	-1.0644	9	0.38643	T	0.18	.	5.8614	0.18749	0.7069:0.141:0.1522:0.0	.	535;535	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	V	535;535;535;17	ENSP00000362962:D535V;ENSP00000238341:D535V	ENSP00000238341:D535V	D	+	2	0	CNTRL	122920593	0.999000	0.42202	0.001000	0.08648	0.685000	0.39939	3.253000	0.51469	0.079000	0.16929	0.460000	0.39030	GAC		0.388	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		24	91	0	0	0	1	0	24	91				
SAMM50	25813	broad.mit.edu	37	22	44377283	44377283	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:44377283T>C	ENST00000350028.4	+	11	1106	c.949T>C	c.(949-951)Tct>Cct	p.S317P	SAMM50_ENST00000396202.3_Missense_Mutation_p.S107P	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	317					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TTTTTCAGCGTCTTTCTGGGG	0.418																																						ENST00000350028.4																			0				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(949-951)Tct>Cct		SAMM50 sorting and assembly machinery component							218.0	194.0	202.0					22																	44377283		2203	4300	6503	SO:0001583	missense	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44377283T>C	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.949T>C	22.37:g.44377283T>C	ENSP00000345445:p.Ser317Pro					SAMM50_ENST00000396202.3_Missense_Mutation_p.S107P	p.S317P	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN			11	1106	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	317					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	ENST00000350028.4	37	c.949T>C	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.056686	0.55325	.	.	ENSG00000100347	ENST00000350028;ENST00000396202	T;T	0.44083	0.93;0.93	4.95	4.95	0.65309	Bacterial surface antigen (D15) (1);	0.000000	0.85682	D	0.000000	T	0.62612	0.2442	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.99;0.993	T	0.62407	-0.6861	10	0.31617	T	0.26	-23.6232	12.6784	0.56908	0.0:0.0:0.0:1.0	.	122;317	B3KUE6;Q9Y512	.;SAM50_HUMAN	P	317;107	ENSP00000345445:S317P;ENSP00000379505:S107P	ENSP00000345445:S317P	S	+	1	0	SAMM50	42708616	1.000000	0.71417	0.822000	0.32727	0.236000	0.25371	5.005000	0.63972	1.990000	0.58119	0.455000	0.32223	TCT		0.418	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		15	71	0	0	0	1	0	15	71				
ZBTB21	49854	broad.mit.edu	37	21	43411831	43411831	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:43411831G>A	ENST00000310826.5	-	3	2557	c.2374C>T	c.(2374-2376)Cgg>Tgg	p.R792W	ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398505.3_Missense_Mutation_p.R591W|ZBTB21_ENST00000398511.3_Missense_Mutation_p.R792W|ZBTB21_ENST00000398499.1_Missense_Mutation_p.R792W	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	792					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										ACCTGGTGCCGCCAGATGCTG	0.507																																						ENST00000310826.5																			0											c.(2374-2376)Cgg>Tgg		zinc finger and BTB domain containing 21							157.0	159.0	158.0					21																	43411831		2203	4300	6503	SO:0001583	missense	49854							g.chr21:43411831G>A	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2374C>T	21.37:g.43411831G>A	ENSP00000308759:p.Arg792Trp					ZBTB21_ENST00000398511.3_Missense_Mutation_p.R792W|ZBTB21_ENST00000398499.1_Missense_Mutation_p.R792W|ZBTB21_ENST00000398505.3_Missense_Mutation_p.R591W|ZBTB21_ENST00000465968.1_5'UTR	p.R792W	NM_001098402.1	NP_001091872.1					3	2557	-								Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.2374C>T	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447741	0.84101	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.09911	3.15;2.93;2.93;2.93	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000001	T	0.34337	0.0894	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.02498	-1.1150	10	0.72032	D	0.01	-21.5969	19.371	0.94484	0.0:0.0:1.0:0.0	.	591;792	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	W	591;792;792;792	ENSP00000381517:R591W;ENSP00000308759:R792W;ENSP00000381512:R792W;ENSP00000381523:R792W	ENSP00000308759:R792W	R	-	1	2	ZNF295	42284900	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.137000	0.71710	2.656000	0.90262	0.563000	0.77884	CGG		0.507	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		64	205	0	0	0	1	0	64	205				
SCN3A	6328	broad.mit.edu	37	2	165947362	165947362	+	Silent	SNP	G	G	A	rs138863451		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:165947362G>A	ENST00000360093.3	-	28	5792	c.5301C>T	c.(5299-5301)atC>atT	p.I1767I	SCN3A_ENST00000540861.1_Silent_p.I250I|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Silent_p.I1767I|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Silent_p.I1718I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1767					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGATGACCGCGATGTACATGT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		20957	0.0		0.0	False		,,,				2504	0.001					ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(5299-5301)atC>atT		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)	G	,,	2,4404	4.2+/-10.8	0,2,2201	113.0	113.0	113.0		5154,5154,5301	-1.3	1.0	2	dbSNP_134	113	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	SCN3A	NM_001081676.1,NM_001081677.1,NM_006922.3	,,	0,2,6498	AA,AG,GG		0.0,0.0454,0.0154	,,	1718/1952,1718/1952,1767/2001	165947362	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165947362G>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5301C>T	2.37:g.165947362G>A						SCN3A_ENST00000540861.1_Silent_p.I250I|SCN3A_ENST00000409101.3_Silent_p.I1718I|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Silent_p.I1767I	p.I1767I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			28	5792	-			1767					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.5301C>T																																																																																					0.453	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		9	197	0	0	0	1	0	9	197				
FAT4	79633	broad.mit.edu	37	4	126373315	126373315	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:126373315T>C	ENST00000394329.3	+	9	11157	c.11144T>C	c.(11143-11145)cTt>cCt	p.L3715P	FAT4_ENST00000335110.5_Missense_Mutation_p.L2013P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3715					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCATCTTACTTCGTCTCGGC	0.468																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(11143-11145)cTt>cCt		FAT atypical cadherin 4							183.0	170.0	174.0					4																	126373315		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373315T>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11144T>C	4.37:g.126373315T>C	ENSP00000377862:p.Leu3715Pro					FAT4_ENST00000335110.5_Missense_Mutation_p.L2013P	p.L3715P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	11157	+			3715					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.11144T>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	17.80	3.477216	0.63849	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.56444	0.46;0.46	5.76	5.76	0.90799	.	0.000000	0.30979	U	0.008494	T	0.64692	0.2621	L	0.39898	1.24	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.68943	0.961;0.915;0.961	T	0.67612	-0.5626	10	0.87932	D	0	.	16.0863	0.81056	0.0:0.0:0.0:1.0	.	2013;3715;3715	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	P	3715;2013	ENSP00000377862:L3715P;ENSP00000335169:L2013P	ENSP00000335169:L2013P	L	+	2	0	FAT4	126592765	1.000000	0.71417	0.930000	0.37139	0.348000	0.29142	7.880000	0.87243	2.197000	0.70478	0.454000	0.30748	CTT		0.468	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		7	171	0	0	0	1	0	7	171				
PNPLA8	50640	broad.mit.edu	37	7	108155015	108155015	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:108155015A>G	ENST00000422087.1	-	4	1327	c.921T>C	c.(919-921)ggT>ggC	p.G307G	PNPLA8_ENST00000257694.8_Silent_p.G307G|PNPLA8_ENST00000426128.2_Silent_p.G307G|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000453144.1_Silent_p.G207G|PNPLA8_ENST00000436062.1_Silent_p.G307G|PNPLA8_ENST00000388728.5_Silent_p.G307G	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	307					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						GGACAAGTCCACCAATATAAC	0.408																																						ENST00000426128.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(919-921)ggT>ggC		patatin-like phospholipase domain containing 8							126.0	126.0	126.0					7																	108155015		2203	4300	6503	SO:0001819	synonymous_variant	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108155015A>G	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.921T>C	7.37:g.108155015A>G						PNPLA8_ENST00000436062.1_Silent_p.G307G|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000257694.8_Silent_p.G307G|PNPLA8_ENST00000453144.1_Silent_p.G207G|PNPLA8_ENST00000388728.5_Silent_p.G307G|PNPLA8_ENST00000422087.1_Silent_p.G307G	p.G307G	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN			2	1046	-			307					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Silent	SNP	ENST00000422087.1	37	c.921T>C	CCDS34733.1																																																																																				0.408	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		5	167	0	0	0	1	0	5	167				
UTP15	84135	broad.mit.edu	37	5	72863173	72863173	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:72863173G>A	ENST00000296792.4	+	2	259	c.4G>A	c.(4-6)Gct>Act	p.A2T	UTP15_ENST00000543251.1_Intron|UTP15_ENST00000508491.1_Missense_Mutation_p.A2T|ANKRA2_ENST00000296785.3_5'Flank	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	2					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TGGAATTATGGCTGGTTATAA	0.348																																						ENST00000296792.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15						c.(4-6)Gct>Act		UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)							90.0	98.0	96.0					5																	72863173		2203	4300	6503	SO:0001583	missense	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72863173G>A	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.4G>A	5.37:g.72863173G>A	ENSP00000296792:p.Ala2Thr					UTP15_ENST00000543251.1_Intron|UTP15_ENST00000508491.1_Missense_Mutation_p.A2T	p.A2T	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	2	259	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	2					B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Missense_Mutation	SNP	ENST00000296792.4	37	c.4G>A	CCDS34186.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396123	0.42512	.	.	ENSG00000164338	ENST00000513824;ENST00000296792;ENST00000508686;ENST00000508491	T;T	0.62941	0.34;-0.01	4.96	3.14	0.36123	.	0.163924	0.53938	D	0.000055	T	0.53481	0.1799	L	0.43923	1.385	0.80722	D	1	B;B	0.27286	0.174;0.174	B;B	0.28305	0.088;0.054	T	0.48647	-0.9017	10	0.38643	T	0.18	.	12.7807	0.57474	0.0:0.0:0.5694:0.4305	.	2;2	B4DXK8;Q8TED0	.;UTP15_HUMAN	T	2	ENSP00000296792:A2T;ENSP00000424609:A2T	ENSP00000296792:A2T	A	+	1	0	UTP15	72898929	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	3.119000	0.50422	0.585000	0.29608	-0.309000	0.09137	GCT		0.348	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		29	86	0	0	0	1	0	29	86				
PXDN	7837	broad.mit.edu	37	2	1652934	1652934	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:1652934G>A	ENST00000252804.4	-	17	2668	c.2618C>T	c.(2617-2619)gCc>gTc	p.A873V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	873					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CATGCAGCGGGCCCCGCTCCT	0.647																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(2617-2619)gCc>gTc		peroxidasin homolog (Drosophila)							17.0	20.0	19.0					2																	1652934		2127	4210	6337	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652934G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2618C>T	2.37:g.1652934G>A	ENSP00000252804:p.Ala873Val						p.A873V	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2668	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	873					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2618C>T	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990980	0.74703	.	.	ENSG00000130508	ENST00000252804	T	0.68479	-0.33	5.36	5.36	0.76844	.	0.185319	0.48286	D	0.000196	T	0.61248	0.2332	N	0.04768	-0.165	0.80722	D	1	P	0.48294	0.908	P	0.54590	0.756	T	0.63778	-0.6560	10	0.30078	T	0.28	-48.7236	19.5152	0.95160	0.0:0.0:1.0:0.0	.	873	Q92626	PXDN_HUMAN	V	873	ENSP00000252804:A873V	ENSP00000252804:A873V	A	-	2	0	PXDN	1631941	1.000000	0.71417	0.648000	0.29521	0.764000	0.43329	7.713000	0.84693	2.683000	0.91414	0.558000	0.71614	GCC		0.647	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		11	30	0	0	0	1	0	11	30				
CNTRL	11064	broad.mit.edu	37	9	123850804	123850804	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:123850804A>G	ENST00000373855.1	+	3	460	c.200A>G	c.(199-201)gAc>gGc	p.D67G	CNTRL_ENST00000238341.5_Missense_Mutation_p.D67G|CNTRL_ENST00000373865.2_Missense_Mutation_p.D67G			Q7Z7A1	CNTRL_HUMAN	centriolin	67					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATGCTTTTGGACTATCAAGAC	0.378																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(199-201)gAc>gGc		centriolin							104.0	85.0	92.0					9																	123850804		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123850804A>G	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.200A>G	9.37:g.123850804A>G	ENSP00000362962:p.Asp67Gly					CNTRL_ENST00000238341.5_Missense_Mutation_p.D67G|CNTRL_ENST00000373865.2_Missense_Mutation_p.D67G	p.D67G			Q7Z7A1	CNTRL_HUMAN			3	460	+			67					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.200A>G	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.627062	0.28978	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.26067	1.76;1.76	5.89	3.52	0.40303	.	.	.	.	.	T	0.27832	0.0685	M	0.71581	2.175	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.28618	-1.0038	9	0.72032	D	0.01	.	6.9264	0.24418	0.7735:0.1498:0.0768:0.0	.	67	Q7Z7A1	CNTRL_HUMAN	G	67	ENSP00000362962:D67G;ENSP00000238341:D67G	ENSP00000238341:D67G	D	+	2	0	CNTRL	122890625	0.971000	0.33674	0.033000	0.17914	0.766000	0.43426	1.766000	0.38491	0.464000	0.27142	0.523000	0.50628	GAC		0.378	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		4	52	0	0	0	1	0	4	52				
KIF13B	23303	broad.mit.edu	37	8	28980935	28980935	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:28980935C>T	ENST00000524189.1	-	28	3465	c.3427G>A	c.(3427-3429)Gcg>Acg	p.A1143T	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1143					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.A1143T(1)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACCATCACCGCGTTCCTCTCC	0.542																																						ENST00000524189.1																			1	Substitution - Missense(1)	p.A1143T(1)	large_intestine(1)	endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(3427-3429)Gcg>Acg		kinesin family member 13B							108.0	108.0	108.0					8																	28980935		1963	4149	6112	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28980935C>T	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3427G>A	8.37:g.28980935C>T	ENSP00000427900:p.Ala1143Thr					CTD-2647L4.1_ENST00000523661.1_RNA	p.A1143T	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	28	3465	-		Ovarian(32;0.000536)	1143					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.3427G>A	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707820	0.89018	.	.	ENSG00000197892	ENST00000524189	D	0.82803	-1.65	4.63	4.63	0.57726	.	0.050998	0.85682	D	0.000000	D	0.88537	0.6463	L	0.61218	1.895	0.80722	D	1	D	0.71674	0.998	P	0.59948	0.866	D	0.89701	0.3905	10	0.62326	D	0.03	.	17.6814	0.88245	0.0:1.0:0.0:0.0	.	1143	F8VPJ2	.	T	1143	ENSP00000427900:A1143T	ENSP00000427900:A1143T	A	-	1	0	KIF13B	29036854	1.000000	0.71417	0.090000	0.20809	0.582000	0.36321	7.215000	0.77966	2.381000	0.81170	0.655000	0.94253	GCG		0.542	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			81	116	0	0	0	1	0	81	116				
ZSWIM5	57643	broad.mit.edu	37	1	45501439	45501439	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:45501439T>C	ENST00000359600.5	-	10	2417	c.2212A>G	c.(2212-2214)Acc>Gcc	p.T738A	AL359473.1_ENST00000583502.1_RNA	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	738						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TTGGCAAAGGTATGCATGGGA	0.498																																						ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(2212-2214)Acc>Gcc		zinc finger, SWIM-type containing 5							90.0	88.0	89.0					1																	45501439		1979	4166	6145	SO:0001583	missense	57643						zinc ion binding	g.chr1:45501439T>C	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2212A>G	1.37:g.45501439T>C	ENSP00000352614:p.Thr738Ala						p.T738A	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			10	2417	-	Acute lymphoblastic leukemia(166;0.155)		738					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.2212A>G	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	t	27.2	4.809534	0.90707	.	.	ENSG00000162415	ENST00000359600	T	0.52983	0.64	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.68357	0.2992	M	0.79258	2.445	0.80722	D	1	D	0.69078	0.997	D	0.66716	0.946	T	0.73241	-0.4045	10	0.72032	D	0.01	-21.1482	15.6196	0.76796	0.0:0.0:0.0:1.0	.	738	Q9P217	ZSWM5_HUMAN	A	738	ENSP00000352614:T738A	ENSP00000352614:T738A	T	-	1	0	ZSWIM5	45274026	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.970000	0.88000	2.243000	0.73865	0.533000	0.62120	ACC		0.498	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		14	43	0	0	0	1	0	14	43				
KRT37	8688	broad.mit.edu	37	17	39580518	39580518	+	Silent	SNP	G	G	A	rs199528879		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:39580518G>A	ENST00000225550.3	-	1	257	c.258C>T	c.(256-258)ccC>ccT	p.P86P	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	86	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CGATGTTGCCGGGAATGTGAC	0.602																																						ENST00000225550.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(256-258)ccC>ccT		keratin 37							65.0	57.0	60.0					17																	39580518		2203	4300	6503	SO:0001819	synonymous_variant	8688					intermediate filament	structural molecule activity	g.chr17:39580518G>A	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.258C>T	17.37:g.39580518G>A						AC003958.2_ENST00000432258.1_RNA	p.P86P	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN			1	257	-		Breast(137;0.000496)	86			Head.			Silent	SNP	ENST00000225550.3	37	c.258C>T	CCDS32653.1																																																																																				0.602	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		21	80	0	0	0	1	0	21	80				
PLCD3	113026	broad.mit.edu	37	17	43190029	43190029	+	Silent	SNP	C	C	T	rs370436896		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:43190029C>T	ENST00000322765.5	-	16	2435	c.2322G>A	c.(2320-2322)ctG>ctA	p.L774L	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	775					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						TGGCTGGTGACAGTGAGGCCC	0.642																																						ENST00000322765.5																			0				breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(2320-2322)ctG>ctA		phospholipase C, delta 3	Phosphatidylserine(DB00144)	C		1,4195		0,1,2097	81.0	93.0	89.0		2324	-1.2	0.2	17		89	0,8442		0,0,4221	no	coding-synonymous	PLCD3	NM_133373.3		0,1,6318	TT,TC,CC		0.0,0.0238,0.0079		775/790	43190029	1,12637	2098	4221	6319	SO:0001819	synonymous_variant	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43190029C>T	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.2322G>A	17.37:g.43190029C>T						PLCD3_ENST00000540511.1_5'UTR	p.L774L	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN			16	2435	-			775					Q8TEC1|Q8TF37|Q96FL6	Silent	SNP	ENST00000322765.5	37	c.2322G>A		.	.	.	.	.	.	.	.	.	.	C	9.567	1.119931	0.20877	2.38E-4	0.0	ENSG00000161714	ENST00000539433	.	.	.	4.85	-1.23	0.09465	.	.	.	.	.	T	0.58878	0.2153	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57602	-0.7783	4	.	.	.	.	12.2597	0.54642	0.0:0.4835:0.4486:0.0678	.	.	.	.	Y	97	.	.	C	-	2	0	PLCD3	40545555	0.155000	0.22806	0.199000	0.23439	0.946000	0.59487	0.490000	0.22403	0.041000	0.15688	0.561000	0.74099	TGT		0.642	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		3	20	0	0	0	1	0	3	20				
FGA	2243	broad.mit.edu	37	4	155510012	155510012	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:155510012A>T	ENST00000302053.3	-	3	375	c.297T>A	c.(295-297)aaT>aaA	p.N99K	FGA_ENST00000403106.3_Missense_Mutation_p.N99K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	99					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GAGAATCCTTATTGTTCTTCT	0.318																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(295-297)aaT>aaA		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						142.0	153.0	149.0					4																	155510012		2203	4299	6502	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155510012A>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.297T>A	4.37:g.155510012A>T	ENSP00000306361:p.Asn99Lys					FGA_ENST00000403106.3_Missense_Mutation_p.N99K	p.N99K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			3	375	-	all_hematologic(180;0.215)	Renal(120;0.0458)	99					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.297T>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	A	13.26	2.184703	0.38609	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	D;D	0.81499	-1.5;-1.5	5.59	1.22	0.21188	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.508095	0.24091	N	0.041624	T	0.73210	0.3558	L	0.57536	1.79	0.29641	N	0.844738	B;P;B	0.47841	0.127;0.901;0.325	B;B;B	0.40534	0.041;0.332;0.125	T	0.69289	-0.5184	10	0.48119	T	0.1	.	8.8045	0.34929	0.6584:0.0:0.3416:0.0	.	99;99;99	A8K3E4;P02671-2;P02671	.;.;FIBA_HUMAN	K	99	ENSP00000306361:N99K;ENSP00000385981:N99K	ENSP00000306361:N99K	N	-	3	2	FGA	155729462	0.994000	0.37717	1.000000	0.80357	0.185000	0.23345	0.321000	0.19558	0.256000	0.21614	0.533000	0.62120	AAT		0.318	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		34	103	0	0	0	1	0	34	103				
SLC24A2	25769	broad.mit.edu	37	9	19550199	19550199	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:19550199G>T	ENST00000341998.2	-	7	1476	c.1415C>A	c.(1414-1416)aCg>aAg	p.T472K	SLC24A2_ENST00000286344.3_Missense_Mutation_p.T455K	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	472					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AATCAGAAACGTGACTTGCTT	0.438																																						ENST00000341998.2																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1414-1416)aCg>aAg		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2							131.0	129.0	130.0					9																	19550199		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19550199G>T	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1415C>A	9.37:g.19550199G>T	ENSP00000344801:p.Thr472Lys					SLC24A2_ENST00000286344.3_Missense_Mutation_p.T455K	p.T472K	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	7	1476	-			472					B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.1415C>A	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444095	0.43429	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.75821	-0.97;-0.92	5.38	5.38	0.77491	.	0.100922	0.64402	N	0.000002	T	0.81795	0.4898	M	0.72118	2.19	0.80722	D	1	P;P	0.49696	0.73;0.927	B;P	0.52672	0.421;0.706	T	0.81482	-0.0913	9	.	.	.	.	18.278	0.90089	0.0:0.0:1.0:0.0	.	455;472	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	K	472;455	ENSP00000344801:T472K;ENSP00000286344:T455K	.	T	-	2	0	SLC24A2	19540199	1.000000	0.71417	0.966000	0.40874	0.499000	0.33736	5.995000	0.70631	2.683000	0.91414	0.655000	0.94253	ACG		0.438	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		6	158	1	0	0.0215528	1	0.0216729	6	158				
UTRN	7402	broad.mit.edu	37	6	144780131	144780131	+	Nonsense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:144780131T>A	ENST00000367545.3	+	19	2510	c.2510T>A	c.(2509-2511)tTg>tAg	p.L837*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	837	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)		TTGCCAAGCTTGAAGGATTCC	0.458																																						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.(2509-2511)tTg>tAg		utrophin							55.0	56.0	56.0					6																	144780131		2203	4299	6502	SO:0001587	stop_gained	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.chr6:144780131T>A	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.2510T>A	6.37:g.144780131T>A	ENSP00000356515:p.Leu837*						p.L837*	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	2510	+		Ovarian(120;0.218)	837			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	ENST00000367545.3	37	c.2510T>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	37	6.267948	0.97426	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	.	.	.	5.62	4.45	0.53987	.	0.451452	0.16455	N	0.213676	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	8.3385	0.32230	0.1318:0.0:0.1382:0.73	.	.	.	.	X	837	.	ENSP00000356499:L837X	L	+	2	0	UTRN	144821824	0.933000	0.31639	0.746000	0.31095	0.040000	0.13550	1.455000	0.35190	1.061000	0.40601	0.528000	0.53228	TTG		0.458	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			4	88	0	0	0	1	0	4	88				
MTMR10	54893	broad.mit.edu	37	15	31234076	31234076	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:31234076A>G	ENST00000435680.1	-	16	2028	c.1931T>C	c.(1930-1932)gTt>gCt	p.V644A	FAN1_ENST00000362065.4_3'UTR|MTMR10_ENST00000314404.8_Intron|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	644	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TGGCAGAATAACACCGTGCAG	0.517																																						ENST00000435680.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(1930-1932)gTt>gCt		myotubularin related protein 10							120.0	124.0	123.0					15																	31234076		1973	4167	6140	SO:0001583	missense	54893						phosphatase activity	g.chr15:31234076A>G	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.1931T>C	15.37:g.31234076A>G	ENSP00000402537:p.Val644Ala					MTMR10_ENST00000314404.8_Intron|MTMR10_ENST00000425768.1_3'UTR|FAN1_ENST00000362065.4_3'UTR	p.V644A	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)	16	2028	-		all_lung(180;2.81e-11)	644			Myotubularin phosphatase.		Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	c.1931T>C	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.964595	0.53507	.	.	ENSG00000166912	ENST00000435680	T	0.46451	0.87	5.67	2.12	0.27331	Myotubularin phosphatase domain (1);	.	.	.	.	T	0.40067	0.1102	L	0.56769	1.78	0.22266	N	0.999245	B	0.23735	0.09	B	0.27715	0.082	T	0.36237	-0.9756	9	0.56958	D	0.05	.	9.3942	0.38392	0.7986:0.0:0.2014:0.0	.	644	Q9NXD2	MTMRA_HUMAN	A	644	ENSP00000402537:V644A	ENSP00000402537:V644A	V	-	2	0	MTMR10	29021368	0.365000	0.25006	0.000000	0.03702	0.329000	0.28539	4.859000	0.62954	0.113000	0.18004	0.533000	0.62120	GTT		0.517	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		15	116	0	0	0	1	0	15	116				
MTOR	2475	broad.mit.edu	37	1	11189816	11189816	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:11189816T>C	ENST00000361445.4	-	40	5769	c.5693A>G	c.(5692-5694)aAc>aGc	p.N1898S	MTOR_ENST00000376838.1_Missense_Mutation_p.N103S|MTOR_ENST00000495435.1_5'Flank	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1898	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CTGGAGGTTGTTGCCTCGTGA	0.507																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(5692-5694)aAc>aGc		mechanistic target of rapamycin (serine/threonine kinase)							164.0	129.0	141.0					1																	11189816		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11189816T>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5693A>G	1.37:g.11189816T>C	ENSP00000354558:p.Asn1898Ser					MTOR_ENST00000376838.1_Missense_Mutation_p.N103S	p.N1898S	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			40	5769	-			1898			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.5693A>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.628610	0.46944	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.69435	-0.4;-0.4	5.79	5.79	0.91817	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	N	0.12611	0.24	0.80722	D	1	P	0.40681	0.727	B	0.40702	0.338	T	0.50259	-0.8849	10	0.14252	T	0.57	-8.5797	16.1354	0.81481	0.0:0.0:0.0:1.0	.	1898	P42345	MTOR_HUMAN	S	1898;103	ENSP00000354558:N1898S;ENSP00000366034:N103S	ENSP00000354558:N1898S	N	-	2	0	MTOR	11112403	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.663000	0.83820	2.207000	0.71202	0.533000	0.62120	AAC		0.507	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		7	45	0	0	0	1	0	7	45				
CYP2A13	1553	broad.mit.edu	37	19	41594902	41594902	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41594902A>G	ENST00000330436.3	+	2	249	c.249A>G	c.(247-249)ggA>ggG	p.G83G		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	83					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	TGCTGTGCGGACATGATGCCG	0.622																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(247-249)ggA>ggG		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						82.0	79.0	80.0					19																	41594902		2203	4298	6501	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41594902A>G	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.249A>G	19.37:g.41594902A>G							p.G83G	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			2	249	+			83					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.249A>G	CCDS12571.1																																																																																				0.622	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		11	100	0	0	0	1	0	11	100				
TARSL2	123283	broad.mit.edu	37	15	102197157	102197157	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:102197157T>C	ENST00000335968.3	-	18	2444	c.2228A>G	c.(2227-2229)aAt>aGt	p.N743S	TARSL2_ENST00000559492.1_5'UTR	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	743					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGCTGTGCATTTCGTATTTT	0.308																																						ENST00000335968.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(2227-2229)aAt>aGt		threonyl-tRNA synthetase-like 2							96.0	88.0	91.0					15																	102197157		2203	4300	6503	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102197157T>C	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.2228A>G	15.37:g.102197157T>C	ENSP00000338093:p.Asn743Ser					TARSL2_ENST00000559492.1_5'UTR	p.N743S	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		18	2444	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		743					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.2228A>G	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552585	0.65425	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	D;D	0.82255	-1.59;-1.59	5.41	4.28	0.50868	Anticodon-binding (3);	0.093488	0.64402	D	0.000001	D	0.90270	0.6957	M	0.86805	2.84	0.49389	D	0.999781	D	0.61697	0.99	D	0.66084	0.941	D	0.89973	0.4095	10	0.66056	D	0.02	-17.8855	9.1952	0.37224	0.0:0.0864:0.0:0.9136	.	743	A2RTX5	SYTC2_HUMAN	S	743;648;743	ENSP00000338093:N743S;ENSP00000439899:N743S	ENSP00000329291:N648S	N	-	2	0	TARSL2	100014680	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.762000	0.85270	0.905000	0.36596	0.402000	0.26972	AAT		0.308	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		4	29	0	0	0	1	0	4	29				
LTBP2	4053	broad.mit.edu	37	14	75018993	75018993	+	Silent	SNP	C	C	G	rs143214774	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:75018993C>G	ENST00000261978.4	-	6	1682	c.1296G>C	c.(1294-1296)ccG>ccC	p.P432P	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Silent_p.P432P|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	432					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGTCCGGCTGCGGGATAGGCA	0.672																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1294-1296)ccG>ccC		latent transforming growth factor beta binding protein 2							35.0	37.0	36.0					14																	75018993		2203	4294	6497	SO:0001819	synonymous_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75018993C>G		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1296G>C	14.37:g.75018993C>G						LTBP2_ENST00000557425.1_Intron|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Silent_p.P432P	p.P432P	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	6	1682	-			432					Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.1296G>C	CCDS9831.1																																																																																				0.672	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		28	66	0	0	0	1	0	28	66				
ABCA13	154664	broad.mit.edu	37	7	48318628	48318628	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:48318628G>A	ENST00000435803.1	+	18	7861	c.7837G>A	c.(7837-7839)Gat>Aat	p.D2613N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2613					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCAAACTCTGATATTTTCAG	0.318																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7837-7839)Gat>Aat		ATP-binding cassette, sub-family A (ABC1), member 13							47.0	48.0	47.0					7																	48318628		1815	4071	5886	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318628G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7837G>A	7.37:g.48318628G>A	ENSP00000411096:p.Asp2613Asn						p.D2613N	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	7861	+			2613					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7837G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074120	0.36566	.	.	ENSG00000179869	ENST00000435803	T	0.60548	0.18	4.93	1.46	0.22682	.	0.282669	0.25369	N	0.031171	T	0.40119	0.1104	L	0.29908	0.895	0.09310	N	1	P	0.39480	0.675	B	0.37144	0.242	T	0.31806	-0.9930	10	0.87932	D	0	.	6.9819	0.24708	0.1058:0.3362:0.558:0.0	.	2613	Q86UQ4	ABCAD_HUMAN	N	2613	ENSP00000411096:D2613N	ENSP00000411096:D2613N	D	+	1	0	ABCA13	48289174	0.029000	0.19370	0.008000	0.14137	0.032000	0.12392	1.372000	0.34261	0.457000	0.26962	0.655000	0.94253	GAT		0.318	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		5	37	0	0	0	1	0	5	37				
FAM86DP	692099	broad.mit.edu	37	3	75477005	75477005	+	RNA	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:75477005T>C	ENST00000459803.1	-	0	433					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		AGGCCTGTGGTACCATGGGAG	0.587																																						ENST00000459803.1																			0																																																			692099							g.chr3:75477005T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75477005T>C								NR_024241.1						0	433	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.587	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		12	14	0	0	0	1	0	12	14				
USP40	55230	broad.mit.edu	37	2	234402104	234402104	+	Missense_Mutation	SNP	A	A	G	rs371332163		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:234402104A>G	ENST00000427112.2	-	24	2916	c.2881T>C	c.(2881-2883)Tgg>Cgg	p.W961R	USP40_ENST00000450966.1_Missense_Mutation_p.W973R|USP40_ENST00000409945.1_Missense_Mutation_p.W137R|USP40_ENST00000251722.6_Missense_Mutation_p.W961R			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	961					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		ACTCTGCCCCAAGACGAAGTA	0.522																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(2881-2883)Tgg>Cgg		ubiquitin specific peptidase 40							67.0	69.0	68.0					2																	234402104		1996	4162	6158	SO:0001583	missense	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234402104A>G	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2881T>C	2.37:g.234402104A>G	ENSP00000387898:p.Trp961Arg					USP40_ENST00000450966.1_Missense_Mutation_p.W973R|USP40_ENST00000409945.1_Missense_Mutation_p.W137R|USP40_ENST00000427112.2_Missense_Mutation_p.W961R	p.W961R			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	25	2998	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	961					Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	c.2881T>C	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	a	0.121	-1.125407	0.01770	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000409945	T;T;T	0.04454	3.62;3.62;3.62	5.59	1.74	0.24563	.	51.287900	0.00166	N	0.000000	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.39251	-0.9623	10	0.07325	T	0.83	.	2.745	0.05264	0.1512:0.2647:0.4478:0.1363	.	973;137;621	Q9NVE5-3;Q9NVE5-2;B4DN96	.;.;.	R	973;961;961;137	ENSP00000415434:W973R;ENSP00000251722:W961R;ENSP00000387898:W961R	ENSP00000251722:W961R	W	-	1	0	USP40	234066843	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.135000	0.15952	0.033000	0.15463	-2.627000	0.00155	TGG		0.522	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		6	27	0	0	0	1	0	6	27				
ADCYAP1R1	117	broad.mit.edu	37	7	31126020	31126020	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:31126020T>C	ENST00000304166.4	+	10	981	c.692T>C	c.(691-693)gTt>gCt	p.V231A	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.V231A|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.V210A|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.V231A	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	231					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GCCGTCATGGTTTTCTTCCAC	0.562																																					Ovarian(44;225 1186 2158 11092)	ENST00000304166.4																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(691-693)gTt>gCt		adenylate cyclase activating polypeptide 1 (pituitary) receptor type I							228.0	165.0	186.0					7																	31126020		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31126020T>C		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.692T>C	7.37:g.31126020T>C	ENSP00000306620:p.Val231Ala					ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.V231A|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.V210A|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.V231A	p.V231A	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN			10	981	+			231					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.692T>C	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	T	18.93	3.728071	0.69074	.	.	ENSG00000078549	ENST00000304166;ENST00000381667;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.47528	1.27;0.84;1.23;1.23	5.69	5.69	0.88448	GPCR, family 2-like (1);	0.058771	0.64402	D	0.000003	T	0.51517	0.1679	M	0.64676	1.99	0.58432	D	0.999998	B;B;B;B;B	0.30193	0.272;0.272;0.07;0.201;0.07	B;B;B;B;B	0.38842	0.283;0.259;0.148;0.14;0.063	T	0.49679	-0.8914	10	0.34782	T	0.22	.	13.8941	0.63761	0.0:0.0:0.0:1.0	.	231;231;231;210;231	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	A	231;2;210;231;231	ENSP00000306620:V231A;ENSP00000387335:V210A;ENSP00000379514:V231A;ENSP00000386395:V231A	ENSP00000306620:V231A	V	+	2	0	ADCYAP1R1	31092545	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.275000	0.72594	2.162000	0.67917	0.533000	0.62120	GTT		0.562	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		13	33	0	0	0	1	0	13	33				
DBX1	120237	broad.mit.edu	37	11	20178608	20178608	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:20178608G>A	ENST00000524983.2	-	3	935	c.647C>T	c.(646-648)gCc>gTc	p.A216V	DBX1_ENST00000227256.3_Missense_Mutation_p.A216V			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	216					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GCCCAGCTTGGCCGCCAGCTT	0.642																																						ENST00000524983.2																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						c.(646-648)gCc>gTc		developing brain homeobox 1							42.0	45.0	44.0					11																	20178608		2203	4300	6503	SO:0001583	missense	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20178608G>A			11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.647C>T	11.37:g.20178608G>A	ENSP00000436881:p.Ala216Val					DBX1_ENST00000227256.3_Missense_Mutation_p.A216V	p.A216V			A6NMT0	DBX1_HUMAN			3	935	-			216						Missense_Mutation	SNP	ENST00000524983.2	37	c.647C>T		.	.	.	.	.	.	.	.	.	.	G	16.54	3.151337	0.57151	.	.	ENSG00000109851	ENST00000524983;ENST00000227256	D;D	0.96396	-4.0;-4.0	4.48	4.48	0.54585	.	0.225320	0.46442	D	0.000294	D	0.93520	0.7932	L	0.42581	1.335	0.43462	D	0.995666	P	0.41848	0.763	B	0.39840	0.311	D	0.93218	0.6606	10	0.44086	T	0.13	-22.5967	13.464	0.61243	0.0:0.1571:0.8429:0.0	.	216	F8W811	.	V	216	ENSP00000436881:A216V;ENSP00000227256:A216V	ENSP00000227256:A216V	A	-	2	0	DBX1	20135184	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.459000	0.80802	2.448000	0.82819	0.650000	0.86243	GCC		0.642	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865		7	67	0	0	0	1	0	7	67				
ARHGEF19	128272	broad.mit.edu	37	1	16534495	16534495	+	Missense_Mutation	SNP	C	C	T	rs576557883		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:16534495C>T	ENST00000270747.3	-	3	774	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	213					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R213Q(1)		cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTGAATTCCGCCCCAGGCG	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14970	0.0		0.0	False		,,,				2504	0.0					ENST00000270747.3																			1	Substitution - Missense(1)	p.R213Q(1)	endometrium(1)	cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(637-639)cGg>cAg		Rho guanine nucleotide exchange factor (GEF) 19							26.0	30.0	29.0					1																	16534495		2202	4298	6500	SO:0001583	missense	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16534495C>T	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.638G>A	1.37:g.16534495C>T	ENSP00000270747:p.Arg213Gln					ARHGEF19_ENST00000421561.1_Missense_Mutation_p.R213Q	p.R213Q	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	3	774	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	213					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.638G>A	CCDS170.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296086	0.81025	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607	T;T	0.55588	0.51;0.51	4.53	3.61	0.41365	.	0.249575	0.25453	N	0.030565	T	0.33933	0.0880	L	0.44542	1.39	0.09310	N	1	P	0.48640	0.913	B	0.33295	0.161	T	0.30446	-0.9978	10	0.30078	T	0.28	.	7.5543	0.27814	0.0:0.8863:0.0:0.1137	.	213	Q8IW93	ARHGJ_HUMAN	Q	213	ENSP00000270747:R213Q;ENSP00000396001:R213Q	ENSP00000270747:R213Q	R	-	2	0	ARHGEF19	16407082	0.156000	0.22821	0.774000	0.31636	0.925000	0.55904	1.450000	0.35134	2.443000	0.82685	0.561000	0.74099	CGG		0.672	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		10	42	0	0	0	1	0	10	42				
ITPR1	3708	broad.mit.edu	37	3	4856176	4856176	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:4856176T>C	ENST00000443694.2	+	55	7586	c.7586T>C	c.(7585-7587)gTc>gCc	p.V2529A	ITPR1_ENST00000544951.1_Missense_Mutation_p.V507A|ITPR1_ENST00000302640.8_Missense_Mutation_p.V2529A|ITPR1_ENST00000423119.2_Missense_Mutation_p.V2496A|AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.V2529A|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.V2481A|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000357086.4_Missense_Mutation_p.V2496A			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2544	Interaction with ERP44. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ATGTGCATTGTCACTGTGCTG	0.537																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(7585-7587)gTc>gCc		inositol 1,4,5-trisphosphate receptor, type 1							88.0	93.0	91.0					3																	4856176		2075	4219	6294	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4856176T>C	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7586T>C	3.37:g.4856176T>C	ENSP00000401671:p.Val2529Ala					AC018816.3_ENST00000449914.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.V2529A|ITPR1_ENST00000357086.4_Missense_Mutation_p.V2496A|ITPR1_ENST00000354582.6_Missense_Mutation_p.V2529A|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000544951.1_Missense_Mutation_p.V507A|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.V2481A|ITPR1_ENST00000423119.2_Missense_Mutation_p.V2496A	p.V2529A	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	57	7936	+			2544			Interaction with ERP44 (By similarity).		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.7586T>C	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167678	0.78339	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	5.11	5.11	0.69529	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98002	0.9342	M	0.67625	2.065	0.58432	D	0.999996	P;P;B	0.49783	0.763;0.928;0.215	P;P;B	0.51657	0.561;0.676;0.287	D	0.98669	1.0687	10	0.87932	D	0	.	14.9251	0.70871	0.0:0.0:0.0:1.0	.	507;2544;2496	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	A	2544;2529;2529;2496;990;2496;2481;507;2529	ENSP00000306253:V2529A;ENSP00000346595:V2529A;ENSP00000405934:V2496A;ENSP00000349597:V2496A;ENSP00000397885:V2481A;ENSP00000440564:V507A;ENSP00000401671:V2529A	ENSP00000306253:V2529A	V	+	2	0	ITPR1	4831176	1.000000	0.71417	0.809000	0.32408	0.963000	0.63663	7.633000	0.83260	1.923000	0.55706	0.528000	0.53228	GTC		0.537	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		33	78	0	0	0	1	0	33	78				
ZNF516	9658	broad.mit.edu	37	18	74091854	74091854	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:74091854G>A	ENST00000443185.2	-	4	2533	c.2216C>T	c.(2215-2217)tCg>tTg	p.S739L	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	739					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ATCCCGCGTCGACCTCGCACT	0.597																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2215-2217)tCg>tTg		zinc finger protein 516							49.0	53.0	51.0					18																	74091854		2019	4171	6190	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091854G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2216C>T	18.37:g.74091854G>A	ENSP00000394757:p.Ser739Leu					ZNF516_ENST00000524431.2_5'UTR	p.S739L	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	2533	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	739						Missense_Mutation	SNP	ENST00000443185.2	37	c.2216C>T		.	.	.	.	.	.	.	.	.	.	G	13.30	2.196201	0.38806	.	.	ENSG00000101493	ENST00000443185	T	0.13196	2.61	4.55	4.55	0.56014	.	0.093660	0.46145	D	0.000314	T	0.36744	0.0978	.	.	.	0.23043	N	0.99839	D	0.89917	1.0	D	0.80764	0.994	T	0.10337	-1.0634	9	0.87932	D	0	-17.601	15.6865	0.77415	0.0:0.0:1.0:0.0	.	739	Q92618	ZN516_HUMAN	L	739	ENSP00000394757:S739L	ENSP00000394757:S739L	S	-	2	0	ZNF516	72220842	1.000000	0.71417	0.195000	0.23364	0.004000	0.04260	4.774000	0.62339	2.349000	0.79799	0.655000	0.94253	TCG		0.597	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		8	42	0	0	0	1	0	8	42				
YOD1	55432	broad.mit.edu	37	1	207222726	207222726	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:207222726G>A	ENST00000315927.4	-	2	732	c.686C>T	c.(685-687)tCc>tTc	p.S229F	YOD1_ENST00000391927.1_Missense_Mutation_p.S185F|YOD1_ENST00000367084.1_Missense_Mutation_p.S185F|PFKFB2_ENST00000411990.2_5'Flank	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	229	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					GTAAAACTTGGACAAAATCGA	0.388																																						ENST00000367084.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11						c.(553-555)tCc>tTc		YOD1 deubiquitinase							187.0	185.0	186.0					1																	207222726		2203	4300	6503	SO:0001583	missense	55432				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding	g.chr1:207222726G>A		CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"""OTU domain containing"""	25035	protein-coding gene	gene with protein product		612023	"""YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)"", ""YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"""				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.686C>T	1.37:g.207222726G>A	ENSP00000326813:p.Ser229Phe					YOD1_ENST00000315927.4_Missense_Mutation_p.S229F|YOD1_ENST00000391927.1_Missense_Mutation_p.S185F	p.S185F	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN			4	758	-	Prostate(682;0.19)		229			OTU.		B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Missense_Mutation	SNP	ENST00000315927.4	37	c.554C>T	CCDS31002.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836794	0.71373	.	.	ENSG00000180667	ENST00000367084;ENST00000315927;ENST00000391927	T;T;T	0.37584	1.19;1.19;1.19	5.97	5.06	0.68205	Ovarian tumour, otubain (2);	0.099558	0.64402	D	0.000001	T	0.69223	0.3087	M	0.92169	3.28	0.80722	D	1	D;P	0.89917	1.0;0.928	D;P	0.76575	0.988;0.845	T	0.78945	-0.2004	10	0.87932	D	0	-0.2186	16.3878	0.83522	0.0:0.1316:0.8684:0.0	.	185;229	Q5VVQ6-2;Q5VVQ6	.;OTU1_HUMAN	F	185;229;185	ENSP00000356051:S185F;ENSP00000326813:S229F;ENSP00000375793:S185F	ENSP00000326813:S229F	S	-	2	0	YOD1	205289349	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.789000	0.85783	1.521000	0.48983	0.655000	0.94253	TCC		0.388	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566		48	163	0	0	0	1	0	48	163				
DDX60	55601	broad.mit.edu	37	4	169197209	169197209	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:169197209T>A	ENST00000393743.3	-	15	2393	c.2102A>T	c.(2101-2103)tAt>tTt	p.Y701F		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	701					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AAATCCTAAATACTTAAGGCA	0.363																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(2101-2103)tAt>tTt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							139.0	135.0	137.0					4																	169197209		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169197209T>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2102A>T	4.37:g.169197209T>A	ENSP00000377344:p.Tyr701Phe						p.Y701F	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	15	2393	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	701					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.2102A>T	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.530612	0.27387	.	.	ENSG00000137628	ENST00000393743	T	0.18174	2.23	5.16	3.98	0.46160	.	0.376759	0.22944	N	0.053744	T	0.23846	0.0577	M	0.74258	2.255	0.09310	N	1	D	0.57899	0.981	P	0.52514	0.701	T	0.13791	-1.0496	10	0.15499	T	0.54	.	3.585	0.07967	0.1306:0.0764:0.1353:0.6577	.	701	Q8IY21	DDX60_HUMAN	F	701	ENSP00000377344:Y701F	ENSP00000377344:Y701F	Y	-	2	0	DDX60	169433784	0.109000	0.22037	0.780000	0.31762	0.088000	0.18126	1.275000	0.33144	0.914000	0.36822	0.460000	0.39030	TAT		0.363	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		21	64	0	0	0	1	0	21	64				
TBC1D20	128637	broad.mit.edu	37	20	419433	419433	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:419433G>A	ENST00000354200.4	-	8	1156	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	337					acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				ACCATATCAGGCCTCTGCTGG	0.537																																						ENST00000354200.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1009-1011)Cct>Tct		TBC1 domain family, member 20							68.0	73.0	72.0					20																	419433		2203	4300	6503	SO:0001583	missense	128637				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity	g.chr20:419433G>A	AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.1009C>T	20.37:g.419433G>A	ENSP00000346139:p.Pro337Ser					TBC1D20_ENST00000461188.1_5'UTR	p.P337S	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN			8	1156	-		all_epithelial(17;0.228)|Breast(17;0.231)	337					A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Missense_Mutation	SNP	ENST00000354200.4	37	c.1009C>T	CCDS13002.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810345	0.90707	.	.	ENSG00000125875	ENST00000354200;ENST00000246077	T	0.31769	1.48	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.54367	0.1854	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41875	-0.9484	10	0.35671	T	0.21	-14.563	16.6903	0.85320	0.0:0.1291:0.8709:0.0	.	337	Q96BZ9	TBC20_HUMAN	S	337;362	ENSP00000346139:P337S	ENSP00000246077:P362S	P	-	1	0	TBC1D20	367433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.529000	0.73812	2.884000	0.98904	0.655000	0.94253	CCT		0.537	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251397.2	NM_144628		29	107	0	0	0	1	0	29	107				
GPM6A	2823	broad.mit.edu	37	4	176594959	176594959	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:176594959C>T	ENST00000280187.7	-	4	304	c.259G>A	c.(259-261)Ggc>Agc	p.G87S	GPM6A_ENST00000506894.1_Missense_Mutation_p.G76S|GPM6A_ENST00000515090.1_Missense_Mutation_p.G80S|GPM6A_ENST00000393658.2_Missense_Mutation_p.G87S	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	87					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GCTGCGATGCCGTAGATCACA	0.398																																						ENST00000280187.7																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(259-261)Ggc>Agc		glycoprotein M6A							65.0	62.0	63.0					4																	176594959		2203	4300	6503	SO:0001583	missense	2823					cell surface|integral to membrane		g.chr4:176594959C>T		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.259G>A	4.37:g.176594959C>T	ENSP00000280187:p.Gly87Ser					GPM6A_ENST00000393658.2_Missense_Mutation_p.G87S|GPM6A_ENST00000515090.1_Missense_Mutation_p.G80S|GPM6A_ENST00000506894.1_Missense_Mutation_p.G76S	p.G87S	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	4	304	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	87					B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	c.259G>A	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369024	0.95900	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000512610;ENST00000502754;ENST00000507520;ENST00000513667;ENST00000512509;ENST00000505561;ENST00000505375;ENST00000513365;ENST00000509865;ENST00000512897;ENST00000507540	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99709	-6.48;-6.48;-6.48;-6.48;-6.48;-6.48;-6.48;-6.48;-6.48;-6.48;-6.48;-6.48;-6.48;-6.48;-6.48;-6.48	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.99100	1.0843	10	0.36615	T	0.2	-19.4009	20.1295	0.97995	0.0:1.0:0.0:0.0	.	80;76;87	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	S	87;87;76;80;79;24;24;24;24;24;24;24;87;24;24;24	ENSP00000280187:G87S;ENSP00000377268:G87S;ENSP00000421578:G76S;ENSP00000423984:G80S;ENSP00000422959:G79S;ENSP00000426984:G24S;ENSP00000426821:G24S;ENSP00000424075:G24S;ENSP00000421373:G24S;ENSP00000424443:G24S;ENSP00000425409:G24S;ENSP00000424125:G24S;ENSP00000423122:G87S;ENSP00000422712:G24S;ENSP00000425925:G24S;ENSP00000421407:G24S	ENSP00000280187:G87S	G	-	1	0	GPM6A	176831953	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	7.400000	0.79949	2.758000	0.94735	0.591000	0.81541	GGC		0.398	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			6	40	0	0	0	1	0	6	40				
LMTK2	22853	broad.mit.edu	37	7	97833441	97833441	+	Missense_Mutation	SNP	G	G	A	rs142965943		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:97833441G>A	ENST00000297293.5	+	13	4719	c.4426G>A	c.(4426-4428)Gcc>Acc	p.A1476T		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1476				Missing (in Ref. 2; BAA83031). {ECO:0000305}.	early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CATCTCTCCCGCCAACATTGC	0.642																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(4426-4428)Gcc>Acc		lemur tyrosine kinase 2		G	THR/ALA	0,4406		0,0,2203	71.0	77.0	75.0		4426	5.4	1.0	7	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense	LMTK2	NM_014916.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1476/1504	97833441	1,13005	2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97833441G>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.4426G>A	7.37:g.97833441G>A	ENSP00000297293:p.Ala1476Thr						p.A1476T	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			13	4719	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1476	Missing (in Ref. 2; BAA83031).				A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.4426G>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	35	5.526719	0.96431	0.0	1.16E-4	ENSG00000164715	ENST00000297293	D	0.86562	-2.14	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.92492	0.7616	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91784	0.5438	10	0.45353	T	0.12	.	18.4328	0.90632	0.0:0.0:1.0:0.0	.	1476	Q8IWU2	LMTK2_HUMAN	T	1476	ENSP00000297293:A1476T	ENSP00000297293:A1476T	A	+	1	0	LMTK2	97671377	1.000000	0.71417	0.972000	0.41901	0.922000	0.55478	9.414000	0.97362	2.667000	0.90743	0.563000	0.77884	GCC		0.642	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		29	105	0	0	0	1	0	29	105				
MYO5A	4644	broad.mit.edu	37	15	52671835	52671835	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:52671835T>C	ENST00000399231.3	-	18	2438	c.2195A>G	c.(2194-2196)gAg>gGg	p.E732G	MYO5A_ENST00000356338.6_Missense_Mutation_p.E732G|MYO5A_ENST00000553916.1_Missense_Mutation_p.E732G|MYO5A_ENST00000399233.2_Missense_Mutation_p.E732G|MYO5A_ENST00000358212.6_Missense_Mutation_p.E732G	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	732	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TATCAGTTTCTCTAACACATT	0.433																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(2194-2196)gAg>gGg		myosin VA (heavy chain 12, myoxin)							156.0	149.0	151.0					15																	52671835		1910	4143	6053	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52671835T>C		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2195A>G	15.37:g.52671835T>C	ENSP00000382177:p.Glu732Gly					MYO5A_ENST00000553916.1_Missense_Mutation_p.E732G|MYO5A_ENST00000356338.6_Missense_Mutation_p.E732G|MYO5A_ENST00000399233.2_Missense_Mutation_p.E732G|MYO5A_ENST00000358212.6_Missense_Mutation_p.E732G	p.E732G	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	18	2438	-			732			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.2195A>G	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.849308	0.91277	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26	5.51	5.51	0.81932	Myosin head, motor domain (2);	0.048973	0.85682	D	0.000000	D	0.85919	0.5809	L	0.47190	1.495	0.80722	D	1	B;P	0.52316	0.055;0.952	B;P	0.46659	0.081;0.523	D	0.85539	0.1214	10	0.37606	T	0.19	.	15.6251	0.76848	0.0:0.0:0.0:1.0	.	732;732	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	G	732;266;732;732;732;362;732	ENSP00000382177:E732G;ENSP00000382179:E732G;ENSP00000348693:E732G;ENSP00000350945:E732G;ENSP00000451109:E732G	ENSP00000348693:E732G	E	-	2	0	MYO5A	50459127	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.086000	0.62901	0.533000	0.62120	GAG		0.433	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		9	82	0	0	0	1	0	9	82				
SRI	6717	broad.mit.edu	37	7	87840218	87840218	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:87840218C>T	ENST00000265729.2	-	4	280	c.228G>A	c.(226-228)cgG>cgA	p.R76R	SRI_ENST00000394641.3_Silent_p.R61R|SRI_ENST00000490437.1_Silent_p.R33R|SRI_ENST00000419179.1_Silent_p.R76R|SRI_ENST00000431660.1_Silent_p.R61R	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	76	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					AAACCATAAGCCGGCAAGTCT	0.284																																						ENST00000265729.2																			0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(226-228)cgG>cgA		sorcin							51.0	52.0	51.0					7																	87840218		2203	4295	6498	SO:0001819	synonymous_variant	6717				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding	g.chr7:87840218C>T	M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"""EF-hand domain containing"""	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.228G>A	7.37:g.87840218C>T						SRI_ENST00000431660.1_Silent_p.R61R|SRI_ENST00000394641.3_Silent_p.R61R|SRI_ENST00000490437.1_Silent_p.R33R|SRI_ENST00000419179.1_Silent_p.R76R	p.R76R	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN			4	280	-	Esophageal squamous(14;0.00202)		76			EF-hand 2.		A8MTH6|B4DKK2|D6W5Q0	Silent	SNP	ENST00000265729.2	37	c.228G>A	CCDS5612.1																																																																																				0.284	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253680.1	NM_003130		4	41	0	0	0	1	0	4	41				
DNAAF2	55172	broad.mit.edu	37	14	50092539	50092539	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:50092539T>C	ENST00000298292.8	-	3	2315	c.2235A>G	c.(2233-2235)caA>caG	p.Q745Q	RP11-649E7.5_ENST00000555043.1_RNA|DNAAF2_ENST00000406043.3_Silent_p.Q697Q	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	745					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						TTGACTCAGGTTGCTGAGATT	0.318																																						ENST00000298292.8																			0				kidney(1)|lung(4)	5						c.(2233-2235)caA>caG		dynein, axonemal, assembly factor 2							70.0	69.0	69.0					14																	50092539		2203	4298	6501	SO:0001819	synonymous_variant	55172				axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50092539T>C	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.2235A>G	14.37:g.50092539T>C						DNAAF2_ENST00000406043.3_Silent_p.Q697Q	p.Q745Q	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN			3	2315	-			745					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Silent	SNP	ENST00000298292.8	37	c.2235A>G	CCDS9691.2																																																																																				0.318	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			9	37	0	0	0	1	0	9	37				
SMPD4	55627	broad.mit.edu	37	2	130913672	130913672	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:130913672G>A	ENST00000409031.1	-	14	2490	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	SMPD4_ENST00000443958.2_Missense_Mutation_p.R112W|SMPD4_ENST00000431183.2_Missense_Mutation_p.R346W|SMPD4_ENST00000453750.1_Missense_Mutation_p.R197W|SMPD4_ENST00000452225.2_Missense_Mutation_p.R189W|SMPD4_ENST00000426662.2_Missense_Mutation_p.R84W|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000351288.6_Missense_Mutation_p.R419W|SMPD4_ENST00000339679.7_Missense_Mutation_p.R306W	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	409					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GGCGCGTACCGCCACGGCTGC	0.657																																						ENST00000409031.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1342-1344)Cgg>Tgg		sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	Phosphatidylserine(DB00144)						25.0	27.0	27.0					2																	130913672		2199	4287	6486	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130913672G>A	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.1342C>T	2.37:g.130913672G>A	ENSP00000386531:p.Arg448Trp					SMPD4_ENST00000351288.6_Missense_Mutation_p.R419W|SMPD4_ENST00000452225.2_Missense_Mutation_p.R189W|SMPD4_ENST00000431183.2_Missense_Mutation_p.R346W|SMPD4_ENST00000426662.2_Missense_Mutation_p.R84W|SMPD4_ENST00000339679.7_Missense_Mutation_p.R306W|SMPD4_ENST00000443958.2_Missense_Mutation_p.R112W|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000453750.1_Missense_Mutation_p.R197W	p.R448W	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN			14	2490	-	Colorectal(110;0.1)		409					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.1342C>T	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.70|14.70	2.614263|2.614263	0.46631|0.46631	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000430682|ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662;ENST00000457039;ENST00000451542	.|.	.|.	.|.	3.8|3.8	1.23|1.23	0.21249|0.21249	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76212|0.76212	0.3956|0.3956	M|M	0.82056|0.82056	2.57|2.57	0.52501|0.52501	D|D	0.999957|0.999957	.|D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;0.981;0.997;1.0;1.0;0.995	T|T	0.74598|0.74598	-0.3612|-0.3612	5|9	.|0.66056	.|D	.|0.02	.|.	9.84|9.84	0.40993|0.40993	0.0:0.0:0.5643:0.4357|0.0:0.0:0.5643:0.4357	.|.	.|84;189;346;306;197;380;409;448;455	.|B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4	.|.;.;.;.;.;.;NSMA3_HUMAN;.;.	V|W	129|419;448;346;197;112;306;189;84;45;196	.|.	.|ENSP00000339721:R306W	A|R	-|-	2|1	0|2	SMPD4|SMPD4	130630142|130630142	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.257000|0.257000	0.26127|0.26127	1.144000|1.144000	0.31565|0.31565	-0.056000|-0.056000	0.13221|0.13221	-0.553000|-0.553000	0.04205|0.04205	GCG|CGG		0.657	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		22	56	0	0	0	1	0	22	56				
MYO1F	4542	broad.mit.edu	37	19	8619427	8619427	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:8619427T>C	ENST00000338257.8	-	4	527	c.260A>G	c.(259-261)tAc>tGc	p.Y87C		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	87	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGTGAGGGCGTAGATGTGCGG	0.612																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(259-261)tAc>tGc		myosin IF							123.0	121.0	122.0					19																	8619427		2024	4182	6206	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8619427T>C	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.260A>G	19.37:g.8619427T>C	ENSP00000344871:p.Tyr87Cys						p.Y87C	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			4	527	-			87			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.260A>G	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955004	0.73902	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.90620	-2.7	4.16	4.16	0.48862	Myosin head, motor domain (2);	0.000000	0.64402	D	0.000001	D	0.97005	0.9022	H	0.98559	4.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	D	0.97692	1.0179	10	0.87932	D	0	.	12.1582	0.54089	0.0:0.0:0.0:1.0	.	87;87;87	B4DVP3;B0I1T1;O00160	.;.;MYO1F_HUMAN	C	132;87	ENSP00000344871:Y87C	ENSP00000304899:Y132C	Y	-	2	0	MYO1F	8525427	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.793000	0.85851	1.757000	0.51966	0.374000	0.22700	TAC		0.612	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			7	212	0	0	0	1	0	7	212				
COG8	84342	broad.mit.edu	37	16	69364834	69364834	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:69364834C>T	ENST00000306875.4	-	5	1861	c.1747G>A	c.(1747-1749)Gcc>Acc	p.A583T	COG8_ENST00000564419.1_5'Flank|PDF_ENST00000288022.1_5'Flank|RP11-343C2.12_ENST00000562949.1_Intron	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	583					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GGCTCCTCGGCGGGAGGCTCT	0.721																																						ENST00000306875.4																			0				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						c.(1747-1749)Gcc>Acc		component of oligomeric golgi complex 8							5.0	6.0	6.0					16																	69364834		2088	4128	6216	SO:0001583	missense	84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69364834C>T	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.1747G>A	16.37:g.69364834C>T	ENSP00000305459:p.Ala583Thr						p.A583T	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN			5	1861	-			583					Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	ENST00000306875.4	37	c.1747G>A	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	-	18.46	3.628051	0.66901	.	.	ENSG00000213380	ENST00000306875	T	0.46063	0.88	5.45	-0.268	0.12934	.	0.739653	0.12478	N	0.465445	T	0.20251	0.0487	N	0.08118	0	0.09310	N	0.999995	B	0.09022	0.002	B	0.04013	0.001	T	0.26503	-1.0101	10	0.14252	T	0.57	-6.7495	11.1611	0.48516	0.2892:0.4133:0.2975:0.0	.	583	Q96MW5	COG8_HUMAN	T	583	ENSP00000305459:A583T	ENSP00000305459:A583T	A	-	1	0	COG8	67922335	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	0.063000	0.14410	-0.538000	0.06281	-2.035000	0.00420	GCC		0.721	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		3	5	0	0	0	1	0	3	5				
PCDHA1	56147	broad.mit.edu	37	5	140167344	140167344	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140167344T>C	ENST00000504120.2	+	1	1469	c.1469T>C	c.(1468-1470)gTg>gCg	p.V490A	PCDHA1_ENST00000394633.3_Missense_Mutation_p.V490A|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V490A	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	490	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGCGCTGGTGTCCTATTCG	0.657																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1468-1470)gTg>gCg									69.0	73.0	72.0					5																	140167344		2203	4298	6501	SO:0001583	missense	56147							g.chr5:140167344T>C	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1469T>C	5.37:g.140167344T>C	ENSP00000420840:p.Val490Ala					PCDHA1_ENST00000378133.3_Missense_Mutation_p.V490A|PCDHA1_ENST00000394633.3_Missense_Mutation_p.V490A	p.V490A	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1469	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1469T>C	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	t	17.70	3.454268	0.63290	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.02656	4.21;4.21;4.21	3.69	3.69	0.42338	Cadherin (4);Cadherin-like (1);	0.000000	0.37304	U	0.002143	T	0.19366	0.0465	M	0.92122	3.275	0.28866	N	0.895234	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.79108	0.992;0.943;0.975	T	0.09228	-1.0684	10	0.87932	D	0	.	12.7196	0.57134	0.0:0.0:0.0:1.0	.	490;490;490	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	A	490	ENSP00000420840:V490A;ENSP00000378129:V490A;ENSP00000367373:V490A	ENSP00000367373:V490A	V	+	2	0	PCDHA1	140147528	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	7.698000	0.84413	1.473000	0.48159	0.449000	0.29647	GTG		0.657	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		34	137	0	0	0	1	0	34	137				
ZNF592	9640	broad.mit.edu	37	15	85327800	85327800	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:85327800C>A	ENST00000560079.2	+	4	2182	c.1894C>A	c.(1894-1896)Ctg>Atg	p.L632M	ZNF592_ENST00000299927.3_Missense_Mutation_p.L632M	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	632					cell death (GO:0008219)|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(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAAGTGCAGCCTGCTCCGGCA	0.592																																						ENST00000299927.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40						c.(1894-1896)Ctg>Atg		zinc finger protein 592							97.0	76.0	83.0					15																	85327800		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85327800C>A	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1894C>A	15.37:g.85327800C>A	ENSP00000452877:p.Leu632Met					ZNF592_ENST00000560079.2_Missense_Mutation_p.L632M	p.L632M			Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		1	1916	+			632					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.1894C>A	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017920	0.54576	.	.	ENSG00000166716	ENST00000299927	T	0.26660	1.72	5.88	5.88	0.94601	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.46600	0.1401	M	0.63843	1.955	0.44736	D	0.99773	D	0.89917	1.0	D	0.91635	0.999	T	0.39231	-0.9624	10	0.66056	D	0.02	-12.0518	11.0631	0.47959	0.0:0.9165:0.0:0.0835	.	632	Q92610	ZN592_HUMAN	M	632	ENSP00000299927:L632M	ENSP00000299927:L632M	L	+	1	2	ZNF592	83128804	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.978000	0.40598	2.774000	0.95407	0.655000	0.94253	CTG		0.592	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		28	81	1	0	3.1745e-13	1	3.31178e-13	28	81				
NPIPB4	440345	broad.mit.edu	37	16	21854862	21854862	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:21854862A>G	ENST00000415645.2	-	4	429	c.390T>C	c.(388-390)tcT>tcC	p.S130S	NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000357370.5_Silent_p.S130S|NPIPB4_ENST00000451409.1_5'UTR			C9JG80	NPIB4_HUMAN	nuclear pore complex interacting protein family, member B4	130						integral component of membrane (GO:0016021)											CTCGAAAGGAAGAAACTCTTT	0.428																																						ENST00000415645.2																			0											c.(388-390)tcT>tcC		nuclear pore complex interacting protein family, member B4																																				SO:0001819	synonymous_variant	440345							g.chr16:21854862A>G			16p12.2	2013-06-11			ENSG00000185864	ENSG00000185864			41985	protein-coding gene	gene with protein product							Standard	XM_006721108		Approved			C9JG80	OTTHUMG00000163555	ENST00000415645.2:c.390T>C	16.37:g.21854862A>G						NPIPB4_ENST00000451409.1_5'UTR|NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000357370.5_Silent_p.S130S	p.S130S							4	429	-									Silent	SNP	ENST00000415645.2	37	c.390T>C																																																																																					0.428	NPIPB4-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				28	243	0	0	0	1	0	28	243				
LMAN1	3998	broad.mit.edu	37	18	57026334	57026334	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:57026334T>C	ENST00000251047.5	-	1	860	c.143A>G	c.(142-144)tAc>tGc	p.Y48C	RP11-27G24.1_ENST00000591331.1_lincRNA	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	48	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GCTGTATTTGTACTCGAAACG	0.692																																						ENST00000251047.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(142-144)tAc>tGc		lectin, mannose-binding, 1	Antihemophilic Factor(DB00025)						67.0	72.0	70.0					18																	57026334		2203	4300	6503	SO:0001583	missense	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57026334T>C	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.143A>G	18.37:g.57026334T>C	ENSP00000251047:p.Tyr48Cys						p.Y48C	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN			1	860	-		Colorectal(73;0.0946)	48			L-type lectin-like.		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	ENST00000251047.5	37	c.143A>G	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.619431	0.87460	.	.	ENSG00000074695	ENST00000251047	T	0.64085	-0.08	3.83	3.83	0.44106	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000002	T	0.81513	0.4838	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.98	D	0.84850	0.0813	10	0.52906	T	0.07	-3.8712	12.7359	0.57222	0.0:0.0:0.0:1.0	.	48;48	B4DVV0;P49257	.;LMAN1_HUMAN	C	48	ENSP00000251047:Y48C	ENSP00000251047:Y48C	Y	-	2	0	LMAN1	55177314	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.417000	0.66423	1.732000	0.51606	0.459000	0.35465	TAC		0.692	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		5	150	0	0	0	1	0	5	150				
POU5F1	5460	broad.mit.edu	37	6	31132543	31132543	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:31132543T>C	ENST00000259915.8	-	5	990	c.918A>G	c.(916-918)tcA>tcG	p.S306S	POU5F1_ENST00000441888.3_Silent_p.S110S|POU5F1_ENST00000513407.1_Silent_p.S110S|POU5F1_ENST00000471529.2_Silent_p.S110S|POU5F1_ENST00000512818.1_Silent_p.S110S|POU5F1_ENST00000606567.1_Silent_p.S136S	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	306					anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|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)		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	CTGGTCCCCCTGAGAAAGGAG	0.587			T	EWSR1	sarcoma																																	ENST00000513407.1				Dom	yes		6	6p21.31	5460	T	"""POU domain, class 5, transcription factor 1"""			M	EWSR1		sarcoma	EWSR1/POU5F1(10)	0				breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						c.(328-330)tcA>tcG		POU class 5 homeobox 1							17.0	16.0	16.0					6																	31132543		1509	2706	4215	SO:0001819	synonymous_variant	5460				anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr6:31132543T>C	Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"""Homeoboxes / POU class"""	9221	protein-coding gene	gene with protein product		164177	"""POU domain class 5, transcription factor 1"""	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.918A>G	6.37:g.31132543T>C						POU5F1_ENST00000259915.8_Silent_p.S306S|POU5F1_ENST00000471529.2_Silent_p.S110S|POU5F1_ENST00000606567.1_Silent_p.S136S|POU5F1_ENST00000441888.3_Silent_p.S110S|POU5F1_ENST00000512818.1_Silent_p.S110S	p.S110S			Q01860	PO5F1_HUMAN			3	1860	-			306					A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Silent	SNP	ENST00000259915.8	37	c.330A>G	CCDS34391.1																																																																																				0.587	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076413.4	NM_002701		4	13	0	0	0	1	0	4	13				
WNK2	65268	broad.mit.edu	37	9	96024279	96024279	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:96024279C>T	ENST00000297954.4	+	12	3250	c.3250C>T	c.(3250-3252)Ccc>Tcc	p.P1084S	WNK2_ENST00000349097.3_Missense_Mutation_p.P696S|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.P696S|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.P1084S	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1084					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCAGAGTGTGCCCACCCAGAC	0.687																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(3250-3252)Ccc>Tcc		WNK lysine deficient protein kinase 2							31.0	27.0	28.0					9																	96024279		2199	4296	6495	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96024279C>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.3250C>T	9.37:g.96024279C>T	ENSP00000297954:p.Pro1084Ser					WNK2_ENST00000395477.2_Missense_Mutation_p.P1084S|WNK2_ENST00000427277.2_Missense_Mutation_p.P696S|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P696S|WNK2_ENST00000356055.3_5'UTR	p.P1084S			Q9Y3S1	WNK2_HUMAN			12	3250	+			1084					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.3250C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.76|14.76	2.630910|2.630910	0.46944|0.46944	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277	.|T;T;T;T	.|0.70516	.|-0.48;-0.49;0.15;0.14	5.3|5.3	4.4|4.4	0.53042|0.53042	.|.	.|0.391091	.|0.26731	.|N	.|0.022791	T|T	0.68384|0.68384	0.2995|0.2995	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.59767	.|0.986;0.959;0.976;0.976	.|P;P;P;P	.|0.53593	.|0.73;0.503;0.698;0.626	T|T	0.66131|0.66131	-0.6000|-0.6000	5|10	.|0.33940	.|T	.|0.23	.|.	11.8878|11.8878	0.52613|0.52613	0.0:0.9179:0.0:0.0821|0.0:0.9179:0.0:0.0821	.|.	.|1084;687;1084;1084	.|Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;WNK2_HUMAN	V|S	687|1084;1084;696;696	.|ENSP00000297954:P1084S;ENSP00000378860:P1084S;ENSP00000297876:P696S;ENSP00000411181:P696S	.|ENSP00000297954:P1084S	A|P	+|+	2|1	0|0	WNK2|WNK2	95064100|95064100	0.997000|0.997000	0.39634|0.39634	0.694000|0.694000	0.30210|0.30210	0.283000|0.283000	0.27025|0.27025	1.104000|1.104000	0.31074|0.31074	1.235000|1.235000	0.43724|0.43724	0.467000|0.467000	0.42956|0.42956	GCC|CCC		0.687	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		4	35	0	0	0	1	0	4	35				
VPRBP	9730	broad.mit.edu	37	3	51457835	51457835	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:51457835A>G	ENST00000335891.5	-	7	1251	c.1242T>C	c.(1240-1242)ctT>ctC	p.L414L				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	863	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CTGTTTCTCCAAGCCCTTTAG	0.502																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1240-1242)ctT>ctC		Vpr (HIV-1) binding protein							131.0	134.0	133.0					3																	51457835		2068	4227	6295	SO:0001819	synonymous_variant	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51457835A>G	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1242T>C	3.37:g.51457835A>G							p.L414L			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	7	1251	-			863					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	ENST00000335891.5	37	c.1242T>C																																																																																					0.502	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		30	71	0	0	0	1	0	30	71				
NOL11	25926	broad.mit.edu	37	17	65732044	65732044	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:65732044T>C	ENST00000253247.4	+	9	1074	c.959T>C	c.(958-960)aTg>aCg	p.M320T	NOL11_ENST00000535137.1_Missense_Mutation_p.M138T	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	320					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CATTTGTTTATGCTACATGGA	0.343																																						ENST00000253247.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11						c.(958-960)aTg>aCg		nucleolar protein 11							134.0	123.0	127.0					17																	65732044		2203	4300	6503	SO:0001583	missense	25926					nucleolus		g.chr17:65732044T>C	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.959T>C	17.37:g.65732044T>C	ENSP00000253247:p.Met320Thr					NOL11_ENST00000535137.1_Missense_Mutation_p.M138T	p.M320T	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		9	1074	+	all_cancers(12;1.54e-10)		320					B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	c.959T>C	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.085344	0.36758	.	.	ENSG00000130935	ENST00000253247;ENST00000535137	T	0.45276	0.9	5.24	5.24	0.73138	.	0.091585	0.64402	D	0.000001	T	0.40171	0.1106	L	0.57536	1.79	0.42336	D	0.992318	B	0.28128	0.201	B	0.24541	0.054	T	0.39461	-0.9613	10	0.66056	D	0.02	-18.763	12.6514	0.56764	0.0:0.0:0.0:1.0	.	320	Q9H8H0	NOL11_HUMAN	T	320;138	ENSP00000253247:M320T	ENSP00000253247:M320T	M	+	2	0	NOL11	63162506	1.000000	0.71417	0.994000	0.49952	0.510000	0.34073	6.552000	0.73914	1.975000	0.57531	0.460000	0.39030	ATG		0.343	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		11	43	0	0	0	1	0	11	43				
BLM	641	broad.mit.edu	37	15	91303895	91303895	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:91303895G>A	ENST00000355112.3	+	7	1410	c.1292G>A	c.(1291-1293)aGg>aAg	p.R431K	BLM_ENST00000560509.1_Missense_Mutation_p.R431K	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	431	Necessary for interaction with SPIDR.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGGAGATACAGGCCTGATTCA	0.403			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1291-1293)aGg>aAg	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							119.0	121.0	120.0					15																	91303895		2198	4298	6496	SO:0001583	missense	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91303895G>A	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.1292G>A	15.37:g.91303895G>A	ENSP00000347232:p.Arg431Lys					BLM_ENST00000560509.1_Missense_Mutation_p.R431K	p.R431K	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		7	1410	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		431					Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.1292G>A	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291489	0.40494	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.44482	0.92	5.72	3.52	0.40303	.	0.786968	0.12573	N	0.457121	T	0.27900	0.0687	L	0.32530	0.975	0.09310	N	1	B;B	0.23442	0.085;0.085	B;B	0.19666	0.026;0.026	T	0.20273	-1.0280	10	0.09843	T	0.71	-26.0694	8.682	0.34214	0.2003:0.0:0.7997:0.0	.	431;431	B2RAN0;P54132	.;BLM_HUMAN	K	431;84	ENSP00000347232:R431K	ENSP00000347232:R431K	R	+	2	0	BLM	89104899	0.065000	0.20965	0.114000	0.21550	0.087000	0.18053	0.740000	0.26188	1.426000	0.47256	0.591000	0.81541	AGG		0.403	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			29	154	0	0	0	1	0	29	154				
SYTL2	54843	broad.mit.edu	37	11	85445199	85445199	+	Silent	SNP	C	C	T	rs370756412	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:85445199C>T	ENST00000528231.1	-	6	1447	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	SYTL2_ENST00000527523.1_Silent_p.S342S|SYTL2_ENST00000389960.4_Silent_p.S390S|SYTL2_ENST00000524452.1_Silent_p.S390S|SYTL2_ENST00000316356.4_Silent_p.S391S	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	390					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GATGAAAAAGCGAAGGCTTTC	0.398													C|||	5	0.000998403	0.0	0.0	5008	,	,		19078	0.0		0.0	False		,,,				2504	0.0051					ENST00000316356.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1171-1173)tcG>tcA		synaptotagmin-like 2							145.0	140.0	142.0					11																	85445199		2203	4299	6502	SO:0001819	synonymous_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85445199C>T	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1170G>A	11.37:g.85445199C>T						SYTL2_ENST00000528231.1_Silent_p.S390S|SYTL2_ENST00000527523.1_Silent_p.S342S|SYTL2_ENST00000524452.1_Silent_p.S390S|SYTL2_ENST00000389960.4_Silent_p.S390S	p.S391S			Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	7	1737	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	390					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.1173G>A	CCDS53688.1																																																																																				0.398	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		43	76	0	0	0	1	0	43	76				
DNAJC5G	285126	broad.mit.edu	37	2	27500629	27500629	+	Missense_Mutation	SNP	G	G	A	rs192714047	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:27500629G>A	ENST00000296097.3	+	4	539	c.121G>A	c.(121-123)Gca>Aca	p.A41T	SLC30A3_ENST00000447008.2_5'Flank|DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000404433.1_Intron|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.A41T	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	41	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCATTCCGCATTGCTTCC	0.498																																						ENST00000296097.3																			0				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10						c.(121-123)Gca>Aca		DnaJ (Hsp40) homolog, subfamily C, member 5 gamma							100.0	97.0	98.0					2																	27500629		2203	4300	6503	SO:0001583	missense	285126				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr2:27500629G>A	AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"""Heat shock proteins / DNAJ (HSP40)"""	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.121G>A	2.37:g.27500629G>A	ENSP00000296097:p.Ala41Thr					DNAJC5G_ENST00000402462.1_Missense_Mutation_p.A41T|DNAJC5G_ENST00000404433.1_Intron|DNAJC5G_ENST00000406962.1_Intron	p.A41T	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN			4	539	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		41			J.		B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Missense_Mutation	SNP	ENST00000296097.3	37	c.121G>A	CCDS1744.1	.	.	.	.	.	.	.	.	.	.	g	10.75	1.439068	0.25900	.	.	ENSG00000163793	ENST00000296097;ENST00000402462	T;T	0.36878	1.23;1.23	4.23	-0.292	0.12839	Heat shock protein DnaJ, N-terminal (3);	4.417190	0.01975	N	0.044361	T	0.32912	0.0845	L	0.29908	0.895	0.09310	N	1	B	0.17852	0.024	B	0.16289	0.015	T	0.46414	-0.9193	10	0.66056	D	0.02	.	13.6002	0.62015	0.0:0.3233:0.6767:0.0	.	41	Q8N7S2	DNJ5G_HUMAN	T	41	ENSP00000296097:A41T;ENSP00000384305:A41T	ENSP00000296097:A41T	A	+	1	0	DNAJC5G	27354133	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.233000	0.09041	0.116000	0.18110	-0.387000	0.06579	GCA		0.498	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	NM_173650		37	129	0	0	0	1	0	37	129				
ACBD5	91452	broad.mit.edu	37	10	27529294	27529294	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:27529294A>G	ENST00000375888.1	-	1	193	c.129T>C	c.(127-129)acT>acC	p.T43T	ACBD5_ENST00000396271.3_Silent_p.T45T|ACBD5_ENST00000375901.1_5'UTR|ACBD5_ENST00000375897.3_5'UTR|RP11-85G18.6_ENST00000574842.1_lincRNA|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Silent_p.T10T			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	43	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCTCAAACCTAGTCTCGTGCA	0.632																																						ENST00000396271.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(133-135)acT>acC		acyl-CoA binding domain containing 5							97.0	86.0	90.0					10																	27529294		2203	4300	6503	SO:0001819	synonymous_variant	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27529294A>G	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.129T>C	10.37:g.27529294A>G						ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Silent_p.T43T|ACBD5_ENST00000375901.1_5'UTR|ACBD5_ENST00000375897.3_5'UTR|ACBD5_ENST00000375905.4_Silent_p.T10T	p.T45T	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN			2	261	-			43			ACB.		B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Silent	SNP	ENST00000375888.1	37	c.135T>C																																																																																					0.632	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		17	81	0	0	0	1	0	17	81				
REEP3	221035	broad.mit.edu	37	10	65358936	65358936	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:65358936G>C	ENST00000373758.4	+	5	493	c.310G>C	c.(310-312)Gat>Cat	p.D104H	REEP3_ENST00000298249.4_Missense_Mutation_p.D89H	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	104					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCAGGAGATTGATGATTATAT	0.378																																						ENST00000373758.4																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(310-312)Gat>Cat		receptor accessory protein 3							71.0	68.0	69.0					10																	65358936		1834	4073	5907	SO:0001583	missense	221035					integral to membrane		g.chr10:65358936G>C	BC057832	CCDS44411.1	10q21.3	2011-01-05	2006-02-07	2006-02-07	ENSG00000165476	ENSG00000165476		"""Receptor accessory proteins"""	23711	protein-coding gene	gene with protein product		609348	"""chromosome 10 open reading frame 74"""	C10orf74		16271481, 15550249	Standard	NM_001001330		Approved		uc001jmt.3	Q6NUK4	OTTHUMG00000018318	ENST00000373758.4:c.310G>C	10.37:g.65358936G>C	ENSP00000362863:p.Asp104His					REEP3_ENST00000298249.4_Missense_Mutation_p.D89H	p.D104H	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN			5	493	+	Prostate(12;0.0119)|all_hematologic(501;0.191)		104					Q5JQR5|Q5QGT2|Q6PEW8|Q6PJY4	Missense_Mutation	SNP	ENST00000373758.4	37	c.310G>C	CCDS44411.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966172	0.74131	.	.	ENSG00000165476	ENST00000373758;ENST00000298249;ENST00000438249	D;D	0.87334	-2.24;-2.24	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.94142	0.8121	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.94331	0.7562	10	0.72032	D	0.01	.	18.7658	0.91871	0.0:0.0:1.0:0.0	.	104;104	Q6NUK4-2;Q6NUK4	.;REEP3_HUMAN	H	104;89;106	ENSP00000362863:D104H;ENSP00000298249:D89H	ENSP00000298249:D89H	D	+	1	0	REEP3	65028942	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.476000	0.97823	2.720000	0.93068	0.557000	0.71058	GAT		0.378	REEP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001001330		15	48	0	0	0	1	0	15	48				
ZHX2	22882	broad.mit.edu	37	8	123965010	123965010	+	Silent	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:123965010T>A	ENST00000314393.4	+	3	2095	c.1260T>A	c.(1258-1260)cgT>cgA	p.R420R		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	420	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AACCCAAGCGTCCACACATCG	0.622																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(1258-1260)cgT>cgA		zinc fingers and homeoboxes 2							59.0	74.0	69.0					8																	123965010		2203	4300	6503	SO:0001819	synonymous_variant	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123965010T>A	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1260T>A	8.37:g.123965010T>A							p.R420R	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2095	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		420			Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.			Silent	SNP	ENST00000314393.4	37	c.1260T>A	CCDS6336.1																																																																																				0.622	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		21	64	0	0	0	1	0	21	64				
NTAN1	123803	broad.mit.edu	37	16	15141945	15141945	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:15141945T>C	ENST00000287706.3	-	2	185	c.93A>G	c.(91-93)agA>agG	p.R31R	PDXDC1_ENST00000535621.2_Intron	NM_001270766.1|NM_173474.3	NP_001257695.1|NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	31					adult locomotory behavior (GO:0008344)|memory (GO:0007613)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-N-terminal asparagine amidohydrolase activity (GO:0008418)			endometrium(1)|large_intestine(4)|lung(3)	8						CTCTGAGAAGTCTGGCTCTTT	0.433																																						ENST00000287706.3																			0				endometrium(1)|large_intestine(4)|lung(3)	8						c.(91-93)agA>agG		N-terminal asparagine amidase							83.0	86.0	85.0					16																	15141945		2197	4300	6497	SO:0001819	synonymous_variant	123803					cytoplasm		g.chr16:15141945T>C	AF092440	CCDS10558.1, CCDS73832.1	16p13	2008-02-05			ENSG00000157045	ENSG00000157045			29909	protein-coding gene	gene with protein product		615367				8910481	Standard	NM_173474		Approved		uc002ddd.4	Q96AB6	OTTHUMG00000129849	ENST00000287706.3:c.93A>G	16.37:g.15141945T>C						PDXDC1_ENST00000535621.2_Intron	p.R31R	NM_173474.2	NP_775745.1	Q96AB6	NTAN1_HUMAN			2	185	-			31					Q7Z4Z0	Silent	SNP	ENST00000287706.3	37	c.93A>G	CCDS10558.1																																																																																				0.433	NTAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252089.1	NM_173474		8	138	0	0	0	1	0	8	138				
UBR1	197131	broad.mit.edu	37	15	43340688	43340688	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:43340688A>G	ENST00000290650.4	-	13	1519	c.1441T>C	c.(1441-1443)Tat>Cat	p.Y481H	UBR1_ENST00000382177.2_Splice_Site_p.Y481H	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	481					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ATCAGGATATACCTATCGTTT	0.308																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.e13-1		ubiquitin protein ligase E3 component n-recognin 1							61.0	59.0	60.0					15																	43340688		2203	4294	6497	SO:0001630	splice_region_variant	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43340688A>G		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1440-1T>C	15.37:g.43340688A>G						UBR1_ENST00000382177.2_Splice_Site_p.Y481_splice	p.Y481_splice	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	13	1519	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	481					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Splice_Site	SNP	ENST00000290650.4	37	c.1439_splice	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.047032	0.75846	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.66460	-0.21;-0.21	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.81875	0.4915	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	0.97;1.0	P;D	0.85130	0.833;0.997	D	0.84144	0.0419	10	0.56958	D	0.05	-13.0761	14.6079	0.68493	1.0:0.0:0.0:0.0	.	481;481	B4DYL2;Q8IWV7	.;UBR1_HUMAN	H	481	ENSP00000290650:Y481H;ENSP00000371612:Y481H	ENSP00000290650:Y481H	Y	-	1	0	UBR1	41127980	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	8.646000	0.91053	2.043000	0.60533	0.374000	0.22700	TAT		0.308	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916	Missense_Mutation	13	22	0	0	0	1	0	13	22				
GCNT2	2651	broad.mit.edu	37	6	10529936	10529936	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:10529936G>A	ENST00000379597.3	+	1	1348	c.792G>A	c.(790-792)acG>acA	p.T264T	GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Silent_p.T264T|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	264					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		ACTTTGGCACGGCCTACGTGG	0.473																																						ENST00000379597.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(790-792)acG>acA		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							132.0	126.0	128.0					6																	10529936		2203	4300	6503	SO:0001819	synonymous_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10529936G>A	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.792G>A	6.37:g.10529936G>A						GCNT2_ENST00000495262.1_Silent_p.T264T|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron	p.T264T			Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	1348	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	264						Silent	SNP	ENST00000379597.3	37	c.792G>A	CCDS34338.1																																																																																				0.473	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		4	189	0	0	0	1	0	4	189				
BBS10	79738	broad.mit.edu	37	12	76741421	76741421	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:76741421G>C	ENST00000393262.3	-	2	427	c.344C>G	c.(343-345)aCc>aGc	p.T115S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	115					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CCTTCCATGGGTTTGAATGTT	0.383									Bardet-Biedl syndrome																													ENST00000393262.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						c.(343-345)aCc>aGc		Bardet-Biedl syndrome 10							97.0	97.0	97.0					12																	76741421		2203	4300	6503	SO:0001583	missense	79738	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76741421G>C	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.344C>G	12.37:g.76741421G>C	ENSP00000376946:p.Thr115Ser						p.T115S	NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN			2	427	-			115					Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.344C>G	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	G	0.850	-0.738967	0.03088	.	.	ENSG00000179941	ENST00000393262;ENST00000547830	D	0.90133	-2.62	5.2	3.2	0.36748	.	0.527792	0.19530	N	0.112062	D	0.84293	0.5440	L	0.41079	1.255	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.65512	-0.6150	10	0.09084	T	0.74	-3.5417	13.4636	0.61241	0.0:0.3097:0.6902:0.0	.	115	Q8TAM1	BBS10_HUMAN	S	115;49	ENSP00000376946:T115S	ENSP00000376946:T115S	T	-	2	0	BBS10	75265552	0.057000	0.20700	0.045000	0.18777	0.446000	0.32137	1.036000	0.30228	1.507000	0.48752	0.650000	0.86243	ACC		0.383	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		17	82	0	0	0	1	0	17	82				
NOL8	55035	broad.mit.edu	37	9	95076818	95076818	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:95076818T>C	ENST00000535387.1	-	6	2088	c.2089A>G	c.(2089-2091)Agc>Ggc	p.S697G	NOL8_ENST00000545558.1_Missense_Mutation_p.S697G|NOL8_ENST00000542053.1_Missense_Mutation_p.S629G|NOL8_ENST00000442668.2_Missense_Mutation_p.S697G|NOL8_ENST00000358855.4_Missense_Mutation_p.S629G					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTATGGCAGCTGTCTTTGTCA	0.428																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(2089-2091)Agc>Ggc		nucleolar protein 8							36.0	33.0	34.0					9																	95076818		1890	4108	5998	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95076818T>C	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2089A>G	9.37:g.95076818T>C	ENSP00000441300:p.Ser697Gly					NOL8_ENST00000535387.1_Missense_Mutation_p.S697G|NOL8_ENST00000442668.2_Missense_Mutation_p.S697G|NOL8_ENST00000358855.4_Missense_Mutation_p.S629G|NOL8_ENST00000542053.1_Missense_Mutation_p.S629G	p.S697G			Q76FK4	NOL8_HUMAN			7	2581	-			697						Missense_Mutation	SNP	ENST00000535387.1	37	c.2089A>G	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	T	5.246	0.230824	0.09969	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.48	-0.623	0.11556	.	0.967892	0.08631	N	0.916986	T	0.21468	0.0517	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24584	-1.0156	10	0.16420	T	0.52	-0.0053	8.3335	0.32200	0.1543:0.624:0.0:0.2216	.	697	Q76FK4	NOL8_HUMAN	G	697;699;629;697;697;629;697	ENSP00000401177:S697G;ENSP00000351723:S629G;ENSP00000441140:S697G;ENSP00000441300:S697G;ENSP00000440709:S629G;ENSP00000414112:S697G	ENSP00000351723:S629G	S	-	1	0	NOL8	94116639	0.000000	0.05858	0.004000	0.12327	0.688000	0.40055	0.173000	0.16724	-0.467000	0.06932	0.459000	0.35465	AGC		0.428	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		6	24	0	0	0	1	0	6	24				
CEP192	55125	broad.mit.edu	37	18	13087062	13087062	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:13087062G>A	ENST00000325971.8	+	29	5468	c.3875G>A	c.(3874-3876)gGc>gAc	p.G1292D	CEP192_ENST00000430049.2_Missense_Mutation_p.G1413D|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.G1888D			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1292					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATTTTGGAAGGCGTTAAAAAA	0.348																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(5662-5664)gGc>gAc		centrosomal protein 192kDa							79.0	81.0	80.0					18																	13087062		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13087062G>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.3875G>A	18.37:g.13087062G>A	ENSP00000317156:p.Gly1292Asp					CEP192_ENST00000430049.2_Missense_Mutation_p.G1413D|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Missense_Mutation_p.G1292D	p.G1888D	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			31	5743	+			1483					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.5663G>A		.	.	.	.	.	.	.	.	.	.	G	3.831	-0.035819	0.07497	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.26373	1.74;1.74;1.74	5.2	1.85	0.25348	.	0.557512	0.19673	N	0.108698	T	0.06050	0.0157	N	0.00677	-1.265	0.24237	N	0.995378	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.11329	0.002;0.006;0.001	T	0.41538	-0.9503	10	0.02654	T	1	-10.8347	9.7068	0.40220	0.7868:0.0:0.2132:0.0	.	1413;1888;490	C9JT09;E9PF99;Q9HCK3	.;.;.	D	1888;1292;1292;1413	ENSP00000427550:G1888D;ENSP00000317156:G1292D;ENSP00000389190:G1413D	ENSP00000317156:G1292D	G	+	2	0	CEP192	13077062	0.999000	0.42202	0.999000	0.59377	0.996000	0.88848	3.811000	0.55620	0.159000	0.19401	0.650000	0.86243	GGC		0.348	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		14	63	0	0	0	1	0	14	63				
PCDHB11	56125	broad.mit.edu	37	5	140580930	140580930	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140580930A>G	ENST00000354757.3	+	1	1583	c.1583A>G	c.(1582-1584)gAc>gGc	p.D528G	PCDHB11_ENST00000536699.1_Missense_Mutation_p.D163G	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	528	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		D -> E (in dbSNP:rs799834).		calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGCTTTCGACTTCCGCGTG	0.677																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(1582-1584)gAc>gGc									58.0	76.0	70.0					5																	140580930		2202	4300	6502	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580930A>G	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1583A>G	5.37:g.140580930A>G	ENSP00000346802:p.Asp528Gly					PCDHB11_ENST00000536699.1_Missense_Mutation_p.D163G	p.D528G	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1583	+			528		D -> E (in dbSNP:rs799834).	Cadherin 5.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.1583A>G	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	a	10.70	1.424442	0.25639	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.01685	4.69;4.69	2.51	2.51	0.30379	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.02727	0.0082	L	0.60455	1.87	0.09310	N	1	B	0.02656	0.0	B	0.16722	0.016	T	0.32025	-0.9922	9	0.72032	D	0.01	.	7.4718	0.27353	0.5382:0.4617:0.0:0.0	.	528	Q9Y5F2	PCDBB_HUMAN	G	163;528	ENSP00000440344:D163G;ENSP00000346802:D528G	ENSP00000346802:D528G	D	+	2	0	PCDHB11	140561114	0.009000	0.17119	0.013000	0.15412	0.082000	0.17680	2.544000	0.45761	1.160000	0.42584	0.248000	0.18094	GAC		0.677	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		25	243	0	0	0	1	0	25	243				
CMTR2	55783	broad.mit.edu	37	16	71317818	71317818	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:71317818A>C	ENST00000338099.5	-	3	2342	c.2006T>G	c.(2005-2007)aTc>aGc	p.I669S	CMTR2_ENST00000434935.2_Missense_Mutation_p.I669S			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	669					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										AACAAAAGTGATGAATCTAAA	0.423																																						ENST00000338099.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2005-2007)aTc>aGc									85.0	86.0	86.0					16																	71317818		2198	4299	6497	SO:0001583	missense	55783					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71317818A>C	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.2006T>G	16.37:g.71317818A>C	ENSP00000337512:p.Ile669Ser					FTSJD1_ENST00000434935.2_Missense_Mutation_p.I669S	p.I669S			Q8IYT2	FTSJ1_HUMAN			3	2342	-			669					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	c.2006T>G	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.114473	0.37339	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.21031	2.03;2.03	5.64	5.64	0.86602	.	0.259797	0.37530	N	0.002042	T	0.21427	0.0516	L	0.34521	1.04	0.53688	D	0.999973	P	0.46706	0.883	B	0.43508	0.422	T	0.01363	-1.1374	10	0.87932	D	0	-9.8701	15.0498	0.71858	1.0:0.0:0.0:0.0	.	669	Q8IYT2	FTSJ1_HUMAN	S	669	ENSP00000337512:I669S;ENSP00000411148:I669S	ENSP00000337512:I669S	I	-	2	0	FTSJD1	69875319	1.000000	0.71417	0.999000	0.59377	0.710000	0.40934	9.085000	0.94083	2.146000	0.66826	0.379000	0.24179	ATC		0.423	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		4	158	0	0	0	1	0	4	158				
YBEY	54059	broad.mit.edu	37	21	47711253	47711253	+	Silent	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:47711253G>C	ENST00000329319.3	+	3	614	c.216G>C	c.(214-216)ctG>ctC	p.L72L	YBEY_ENST00000339195.6_Intron|YBEY_ENST00000397692.1_Intron|YBEY_ENST00000397691.1_Silent_p.L72L|YBEY_ENST00000397694.1_Silent_p.L27L|YBEY_ENST00000397701.4_Silent_p.L72L	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	72					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						TTTAGCATCTGAAAGCAGGTG	0.408																																						ENST00000329319.3																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						c.(214-216)ctG>ctC		ybeY metallopeptidase (putative)							84.0	81.0	82.0					21																	47711253		2203	4300	6503	SO:0001819	synonymous_variant	54059						metal ion binding|metalloendopeptidase activity	g.chr21:47711253G>C	AK294975	CCDS33591.1	21q22.3	2010-12-08	2010-12-08	2010-12-08	ENSG00000182362	ENSG00000182362			1299	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 57"""	C21orf57			Standard	XM_005261155		Approved		uc002ziv.3	P58557	OTTHUMG00000090632	ENST00000329319.3:c.216G>C	21.37:g.47711253G>C						YBEY_ENST00000397692.1_Intron|YBEY_ENST00000397694.1_Silent_p.L27L|YBEY_ENST00000339195.6_Intron|YBEY_ENST00000397701.4_Silent_p.L72L|YBEY_ENST00000397691.1_Silent_p.L72L	p.L72L	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN			3	614	+			72					B7WPA9|B7WPF7|D3DSN2	Silent	SNP	ENST00000329319.3	37	c.216G>C	CCDS33591.1																																																																																				0.408	YBEY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207265.1	NM_058181		12	53	0	0	0	1	0	12	53				
OMD	4958	broad.mit.edu	37	9	95177629	95177629	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:95177629T>C	ENST00000375550.4	-	3	1346	c.1071A>G	c.(1069-1071)atA>atG	p.I357M	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	357					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						AAATAGTGTGTATATGAGGGA	0.353			T	USP6	aneurysmal bone cysts																																	ENST00000375550.4				Dom	yes		9	9q22.31	4958	T	osteomodulin			M	USP6		aneurysmal bone cysts		0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						c.(1069-1071)atA>atG		osteomodulin							224.0	212.0	217.0					9																	95177629		2203	4300	6503	SO:0001583	missense	4958				cell adhesion	proteinaceous extracellular matrix		g.chr9:95177629T>C	AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8134	protein-coding gene	gene with protein product	"""osteoadherin proteoglycan"""						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.1071A>G	9.37:g.95177629T>C	ENSP00000364700:p.Ile357Met					CENPP_ENST00000375587.3_Intron	p.I357M	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN			3	1346	-			357					Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	37	c.1071A>G	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	T	9.734	1.163115	0.21538	.	.	ENSG00000127083	ENST00000375550	T	0.04809	3.55	5.59	-2.75	0.05914	.	0.388726	0.26026	N	0.026789	T	0.03520	0.0101	L	0.40543	1.245	0.09310	N	1	B	0.24132	0.098	B	0.15052	0.012	T	0.36915	-0.9728	10	0.38643	T	0.18	-3.0176	7.5577	0.27833	0.0:0.2223:0.3982:0.3795	.	357	Q99983	OMD_HUMAN	M	357	ENSP00000364700:I357M	ENSP00000364700:I357M	I	-	3	3	OMD	94217450	0.196000	0.23350	0.099000	0.21106	0.621000	0.37620	-0.768000	0.04715	-0.102000	0.12197	0.454000	0.30748	ATA		0.353	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014		4	41	0	0	0	1	0	4	41				
EHBP1	23301	broad.mit.edu	37	2	63206435	63206435	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:63206435C>T	ENST00000263991.5	+	16	3160	c.2678C>T	c.(2677-2679)gCa>gTa	p.A893V	EHBP1_ENST00000405289.1_Missense_Mutation_p.A858V|EHBP1_ENST00000354487.3_Missense_Mutation_p.A858V|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000431489.1_Missense_Mutation_p.A858V|EHBP1_ENST00000405015.3_Missense_Mutation_p.A858V	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	893						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAAATGGCTGCAGAAAAGTTG	0.473																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(2677-2679)gCa>gTa		EH domain binding protein 1							78.0	83.0	82.0					2																	63206435		2203	4300	6503	SO:0001583	missense	23301					cytoplasm|membrane		g.chr2:63206435C>T	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.2678C>T	2.37:g.63206435C>T	ENSP00000263991:p.Ala893Val					EHBP1_ENST00000431489.1_Missense_Mutation_p.A858V|EHBP1_ENST00000405015.3_Missense_Mutation_p.A858V|EHBP1_ENST00000354487.3_Missense_Mutation_p.A858V|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405289.1_Missense_Mutation_p.A858V	p.A893V	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		16	3160	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		893					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.2678C>T	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688663	0.68271	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T	0.77620	-0.88;-0.88;-1.11;-1.11;-1.11	5.69	5.69	0.88448	.	0.200739	0.42682	D	0.000666	T	0.78407	0.4278	L	0.54323	1.7	0.30110	N	0.806691	P;B;P	0.41420	0.743;0.047;0.749	B;B;B	0.42593	0.392;0.034;0.345	T	0.77125	-0.2703	10	0.45353	T	0.12	.	19.8101	0.96543	0.0:1.0:0.0:0.0	.	858;858;893	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	V	858;858;893;858;858	ENSP00000384143:A858V;ENSP00000403783:A858V;ENSP00000263991:A893V;ENSP00000346482:A858V;ENSP00000385524:A858V	ENSP00000263991:A893V	A	+	2	0	EHBP1	63059939	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.238000	0.58688	2.696000	0.92011	0.655000	0.94253	GCA		0.473	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		15	56	0	0	0	1	0	15	56				
WWP2	11060	broad.mit.edu	37	16	69874117	69874117	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:69874117G>A	ENST00000359154.2	+	5	530	c.429G>A	c.(427-429)ggG>ggA	p.G143G	WWP2_ENST00000542271.1_Silent_p.G27G|WWP2_ENST00000448661.1_Silent_p.G143G|WWP2_ENST00000569174.1_Silent_p.G143G|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Silent_p.G143G	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	143					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCTGGACGGGCCAACTGTTG	0.592																																						ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(427-429)ggG>ggA		WW domain containing E3 ubiquitin protein ligase 2							112.0	92.0	99.0					16																	69874117		2198	4300	6498	SO:0001819	synonymous_variant	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69874117G>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.429G>A	16.37:g.69874117G>A						WWP2_ENST00000356003.2_Silent_p.G143G|WWP2_ENST00000569174.1_Silent_p.G143G|WWP2_ENST00000448661.1_Silent_p.G143G|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Silent_p.G27G	p.G143G	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			5	530	+			143					A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	c.429G>A	CCDS10885.1																																																																																				0.592	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		4	133	0	0	0	1	0	4	133				
DRD2	1813	broad.mit.edu	37	11	113288779	113288779	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:113288779A>T	ENST00000362072.3	-	3	709	c.365T>A	c.(364-366)aTc>aAc	p.I122N	DRD2_ENST00000355319.2_Missense_Mutation_p.I122N|DRD2_ENST00000542968.1_Missense_Mutation_p.I122N|DRD2_ENST00000538967.1_Missense_Mutation_p.I122N|DRD2_ENST00000544518.1_Missense_Mutation_p.I121N|DRD2_ENST00000346454.3_Missense_Mutation_p.I122N|DRD2_ENST00000535984.1_5'UTR	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	122					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CAAGTTCAGGATGCTCGCCGT	0.532																																						ENST00000362072.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39						c.(364-366)aTc>aAc		dopamine receptor D2	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						166.0	115.0	133.0					11																	113288779		2201	4296	6497	SO:0001583	missense	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113288779A>T	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.365T>A	11.37:g.113288779A>T	ENSP00000354859:p.Ile122Asn					DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000544518.1_Missense_Mutation_p.I121N|DRD2_ENST00000542968.1_Missense_Mutation_p.I122N|DRD2_ENST00000355319.2_Missense_Mutation_p.I122N|DRD2_ENST00000538967.1_Missense_Mutation_p.I122N|DRD2_ENST00000346454.3_Missense_Mutation_p.I122N	p.I122N	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	3	709	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	122					Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.365T>A	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483303	0.84854	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967;ENST00000543292	T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;2.08	5.23	5.23	0.72850	GPCR, rhodopsin-like superfamily (1);	0.091704	0.85682	D	0.000000	D	0.90359	0.6983	H	0.99719	4.725	0.80722	D	1	P;B;B;P	0.43231	0.571;0.324;0.324;0.801	B;B;B;P	0.46320	0.377;0.273;0.273;0.512	D	0.93933	0.7216	10	0.87932	D	0	.	15.1017	0.72284	1.0:0.0:0.0:0.0	.	121;122;122;122	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	N	122;122;122;121;122;122;122	ENSP00000347474:I122N;ENSP00000278597:I122N;ENSP00000354859:I122N;ENSP00000441068:I121N;ENSP00000442172:I122N;ENSP00000438215:I122N;ENSP00000438419:I122N	ENSP00000278597:I122N	I	-	2	0	DRD2	112793989	1.000000	0.71417	0.999000	0.59377	0.790000	0.44656	9.245000	0.95431	2.095000	0.63458	0.533000	0.62120	ATC		0.532	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		16	61	0	0	0	1	0	16	61				
STEAP2	261729	broad.mit.edu	37	7	89856305	89856305	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:89856305T>C	ENST00000287908.3	+	3	906	c.513T>C	c.(511-513)aaT>aaC	p.N171N	STEAP2_ENST00000394626.1_Silent_p.N171N|STEAP2_ENST00000402625.2_Silent_p.N171N|STEAP2_ENST00000394629.2_Silent_p.N171N|STEAP2_ENST00000394632.1_Silent_p.N171N|STEAP2_ENST00000394622.2_Silent_p.N171N|STEAP2_ENST00000394621.2_Silent_p.N171N	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	171					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					GCAGCAACAATATTCAAGCGC	0.393																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(511-513)aaT>aaC		STEAP family member 2, metalloreductase							86.0	85.0	85.0					7																	89856305		2203	4300	6503	SO:0001819	synonymous_variant	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856305T>C	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.513T>C	7.37:g.89856305T>C						STEAP2_ENST00000394621.2_Silent_p.N171N|STEAP2_ENST00000394626.1_Silent_p.N171N|STEAP2_ENST00000394632.1_Silent_p.N171N|STEAP2_ENST00000394629.2_Silent_p.N171N|STEAP2_ENST00000394622.2_Silent_p.N171N|STEAP2_ENST00000402625.2_Silent_p.N171N	p.N171N	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			3	906	+	all_hematologic(106;0.112)		171					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Silent	SNP	ENST00000287908.3	37	c.513T>C	CCDS5615.1																																																																																				0.393	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		19	94	0	0	0	1	0	19	94				
SYNJ2	8871	broad.mit.edu	37	6	158492712	158492712	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:158492712G>A	ENST00000355585.4	+	15	2094	c.2019G>A	c.(2017-2019)caG>caA	p.Q673Q	SYNJ2_ENST00000367121.3_Silent_p.Q673Q|SYNJ2_ENST00000367122.2_Silent_p.Q673Q	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	673					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCCGCTTCCAGTTCCACAGCA	0.592																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2017-2019)caG>caA		synaptojanin 2							97.0	88.0	91.0					6																	158492712		2203	4300	6503	SO:0001819	synonymous_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158492712G>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.2019G>A	6.37:g.158492712G>A						SYNJ2_ENST00000367121.3_Silent_p.Q673Q|SYNJ2_ENST00000367122.2_Silent_p.Q673Q	p.Q673Q	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	15	2094	+			673					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	c.2019G>A	CCDS5254.1																																																																																				0.592	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			42	87	0	0	0	1	0	42	87				
ATP10B	23120	broad.mit.edu	37	5	160044886	160044886	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:160044886T>C	ENST00000327245.5	-	16	3357	c.2511A>G	c.(2509-2511)ctA>ctG	p.L837L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	837					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGCAATGCATAGTGTGCGCA	0.418																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(2509-2511)ctA>ctG		ATPase, class V, type 10B							156.0	149.0	151.0					5																	160044886		1881	4103	5984	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160044886T>C	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2511A>G	5.37:g.160044886T>C						CTC-348L5.1_ENST00000523598.1_RNA	p.L837L	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		16	3357	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	837					Q9H725	Silent	SNP	ENST00000327245.5	37	c.2511A>G	CCDS43394.1																																																																																				0.418	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		21	60	0	0	0	1	0	21	60				
PITPNM3	83394	broad.mit.edu	37	17	6368022	6368022	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:6368022G>A	ENST00000262483.8	-	15	2047	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.R618W	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	654					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TACATGAACCGCCCCACCAGG	0.617																																						ENST00000262483.8																			0											c.(1960-1962)Cgg>Tgg									70.0	63.0	65.0					17																	6368022		2203	4300	6503	SO:0001583	missense	83394							g.chr17:6368022G>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1960C>T	17.37:g.6368022G>A	ENSP00000262483:p.Arg654Trp					ACKR6_ENST00000421306.3_Missense_Mutation_p.R618W|ACKR6_ENST00000576664.1_5'UTR	p.R654W	NM_031220.3	NP_112497.2					15	2047	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.1960C>T	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022895	0.75275	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.57595	0.39;0.39	4.78	2.72	0.32119	.	0.058265	0.64402	D	0.000005	T	0.73869	0.3642	M	0.89287	3.02	0.44048	D	0.996787	D;D	0.89917	1.0;0.999	D;P	0.87578	0.998;0.849	T	0.76506	-0.2934	10	0.87932	D	0	.	10.9781	0.47478	0.0:0.0:0.5076:0.4924	.	618;654	F8WEW5;Q9BZ71	.;PITM3_HUMAN	W	654;618	ENSP00000262483:R654W;ENSP00000407882:R618W	ENSP00000262483:R654W	R	-	1	2	PITPNM3	6308746	1.000000	0.71417	0.941000	0.38009	0.997000	0.91878	3.303000	0.51858	0.509000	0.28195	0.561000	0.74099	CGG		0.617	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		17	38	0	0	0	1	0	17	38				
ZNF439	90594	broad.mit.edu	37	19	11979202	11979202	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11979202T>C	ENST00000304030.2	+	3	1518	c.1318T>C	c.(1318-1320)Tgt>Cgt	p.C440R	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.C304R	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	440					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						ACCGTATCAATGTAAGGAATG	0.438																																						ENST00000304030.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						c.(1318-1320)Tgt>Cgt		zinc finger protein 439							68.0	63.0	65.0					19																	11979202		2203	4300	6503	SO:0001583	missense	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11979202T>C	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1318T>C	19.37:g.11979202T>C	ENSP00000305077:p.Cys440Arg					ZNF439_ENST00000455282.1_Missense_Mutation_p.C304R|ZNF439_ENST00000592534.1_Intron	p.C440R	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN			3	1518	+			440					Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	c.1318T>C	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	t	13.14	2.148688	0.37923	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	D;D	0.85258	-1.96;-1.96	0.749	0.749	0.18381	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93664	0.7976	H	0.97611	4.04	0.51012	D	0.999906	D	0.89917	1.0	D	0.97110	1.0	D	0.91673	0.5352	9	0.87932	D	0	.	7.0952	0.25305	0.0:0.0:0.0:1.0	.	440	Q8NDP4	ZN439_HUMAN	R	304;440	ENSP00000395632:C304R;ENSP00000305077:C440R	ENSP00000305077:C440R	C	+	1	0	ZNF439	11840202	1.000000	0.71417	0.023000	0.16930	0.052000	0.14988	6.026000	0.70873	0.598000	0.29829	0.163000	0.16589	TGT		0.438	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			9	74	0	0	0	1	0	9	74				
SLC26A8	116369	broad.mit.edu	37	6	35923102	35923102	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:35923102T>C	ENST00000490799.1	-	17	2412	c.2059A>G	c.(2059-2061)Aat>Gat	p.N687D	SLC26A8_ENST00000394602.2_Missense_Mutation_p.N582D|SLC26A8_ENST00000355574.2_Missense_Mutation_p.N687D	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GATGAGTTATTAGGAAGCCAA	0.507																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2059-2061)Aat>Gat		solute carrier family 26 (anion exchanger), member 8							213.0	205.0	208.0					6																	35923102		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35923102T>C	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2059A>G	6.37:g.35923102T>C	ENSP00000417638:p.Asn687Asp					SLC26A8_ENST00000355574.2_Missense_Mutation_p.N687D|SLC26A8_ENST00000394602.2_Missense_Mutation_p.N582D	p.N687D	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			17	2412	-			687			Interaction with RACGAP1.|STAS.			Missense_Mutation	SNP	ENST00000490799.1	37	c.2059A>G	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	T	8.554	0.876304	0.17395	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.95103	-3.27;-3.61;-3.27	4.61	2.21	0.28008	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.926525	0.09169	N	0.839225	T	0.77864	0.4194	L	0.38838	1.175	0.09310	N	1	B;B;B	0.21147	0.006;0.052;0.013	B;B;B	0.15052	0.007;0.012;0.011	T	0.65331	-0.6194	10	0.10636	T	0.68	.	4.1307	0.10148	0.0:0.1129:0.2095:0.6776	.	687;582;269	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	D	687;582;687	ENSP00000417638:N687D;ENSP00000378100:N582D;ENSP00000347778:N687D	ENSP00000347778:N687D	N	-	1	0	SLC26A8	36031080	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.504000	0.22626	0.375000	0.24679	0.533000	0.62120	AAT		0.507	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			21	71	0	0	0	1	0	21	71				
MGAT1	4245	broad.mit.edu	37	5	180219668	180219668	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:180219668C>T	ENST00000446023.2	-	3	1054	c.304G>A	c.(304-306)Gcg>Acg	p.A102T	MGAT1_ENST00000307826.4_Missense_Mutation_p.A102T|MGAT1_ENST00000393340.3_Missense_Mutation_p.A102T|MGAT1_ENST00000333055.3_Missense_Mutation_p.A102T|MGAT1_ENST00000427865.2_Missense_Mutation_p.A102T	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	102					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCGCCGGCGCGGGGGTCACA	0.706																																						ENST00000446023.2																			0				endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13						c.(304-306)Gcg>Acg		mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase							9.0	10.0	10.0					5																	180219668		2178	4266	6444	SO:0001583	missense	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180219668C>T	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.304G>A	5.37:g.180219668C>T	ENSP00000404718:p.Ala102Thr					MGAT1_ENST00000393340.3_Missense_Mutation_p.A102T|MGAT1_ENST00000333055.3_Missense_Mutation_p.A102T|MGAT1_ENST00000427865.2_Missense_Mutation_p.A102T|MGAT1_ENST00000307826.4_Missense_Mutation_p.A102T	p.A102T	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	1054	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	102					A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	c.304G>A	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	C	0.560	-0.845860	0.02671	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000427865;ENST00000504671;ENST00000506889;ENST00000514283;ENST00000512695;ENST00000506269;ENST00000514438;ENST00000502678	D;D;D;D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	4.41	-0.927	0.10451	.	0.761420	0.11313	N	0.576903	T	0.57666	0.2069	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.41520	-0.9504	10	0.15499	T	0.54	2.0255	1.6137	0.02698	0.1592:0.1489:0.4127:0.2791	.	102	P26572	MGAT1_HUMAN	T	102	ENSP00000332073:A102T;ENSP00000311888:A102T;ENSP00000404718:A102T;ENSP00000377010:A102T;ENSP00000402838:A102T;ENSP00000424891:A102T;ENSP00000425988:A102T;ENSP00000424382:A102T;ENSP00000427116:A102T;ENSP00000422906:A102T;ENSP00000421738:A102T	ENSP00000311888:A102T	A	-	1	0	MGAT1	180152274	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.322000	0.08007	-0.003000	0.14444	-0.502000	0.04539	GCG		0.706	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		4	20	0	0	0	1	0	4	20				
EPHA10	284656	broad.mit.edu	37	1	38227230	38227230	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:38227230G>A	ENST00000373048.4	-	3	696	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L	EPHA10_ENST00000427468.2_Silent_p.L233L|EPHA10_ENST00000319637.6_Silent_p.L233L	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	233					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)				ACTTCCACCAGTGTGGAGAAG	0.711																																						ENST00000373048.4																			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.(697-699)Ctg>Ttg		EPH receptor A10							12.0	14.0	14.0					1																	38227230		2192	4269	6461	SO:0001819	synonymous_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227230G>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	ENST00000373048.4:c.697C>T	1.37:g.38227230G>A						EPHA10_ENST00000319637.6_Silent_p.L233L|EPHA10_ENST00000427468.2_Silent_p.L233L	p.L233L	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			3	696	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	233					A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.697C>T	CCDS41305.1																																																																																				0.711	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		16	33	0	0	0	1	0	16	33				
PYGB	5834	broad.mit.edu	37	20	25269070	25269070	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:25269070G>C	ENST00000216962.4	+	15	1888	c.1778G>C	c.(1777-1779)aGa>aCa	p.R593T		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	593					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GGAATCAAGAGAGACCCGGCC	0.602																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1777-1779)aGa>aCa		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						145.0	138.0	141.0					20																	25269070		2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25269070G>C		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1778G>C	20.37:g.25269070G>C	ENSP00000216962:p.Arg593Thr						p.R593T	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			15	1888	+			593					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.1778G>C	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440816	0.25900	.	.	ENSG00000100994	ENST00000216962	D	0.92545	-3.06	4.14	3.05	0.35203	.	0.269292	0.40908	D	0.000998	D	0.84556	0.5498	L	0.35644	1.08	0.22266	N	0.999244	B	0.02656	0.0	B	0.08055	0.003	T	0.67241	-0.5720	10	0.15499	T	0.54	-28.1075	7.6218	0.28189	0.8088:0.0:0.1912:0.0	.	593	P11216	PYGB_HUMAN	T	593	ENSP00000216962:R593T	ENSP00000216962:R593T	R	+	2	0	PYGB	25217070	0.672000	0.27530	1.000000	0.80357	0.867000	0.49689	0.985000	0.29578	0.760000	0.33108	-0.471000	0.05019	AGA		0.602	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		35	127	0	0	0	1	0	35	127				
NUP50	10762	broad.mit.edu	37	22	45574765	45574765	+	Silent	SNP	C	C	T	rs552003251		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:45574765C>T	ENST00000347635.4	+	5	1453	c.987C>T	c.(985-987)gaC>gaT	p.D329D	NUP50_ENST00000396096.2_Silent_p.D301D|CTA-268H5.12_ENST00000610217.1_RNA|NUP50_ENST00000425733.2_Silent_p.D79D|NUP50_ENST00000407019.2_Silent_p.D301D	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	329	Ser-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CAGAAGGTGACAGTGGTGAAT	0.443																																						ENST00000347635.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(985-987)gaC>gaT		nucleoporin 50kDa							74.0	68.0	70.0					22																	45574765		2202	4300	6502	SO:0001819	synonymous_variant	10762				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding	g.chr22:45574765C>T	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.987C>T	22.37:g.45574765C>T						NUP50_ENST00000396096.2_Silent_p.D301D|NUP50_ENST00000407019.2_Silent_p.D301D|NUP50_ENST00000425733.2_Silent_p.D79D	p.D329D	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	5	1453	+		Ovarian(80;0.00965)|all_neural(38;0.0244)	329			Ser-rich.		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Silent	SNP	ENST00000347635.4	37	c.987C>T	CCDS14062.1																																																																																				0.443	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			12	50	0	0	0	1	0	12	50				
PPIB	5479	broad.mit.edu	37	15	64449054	64449054	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:64449054T>C	ENST00000300026.3	-	4	616	c.398A>G	c.(397-399)tAc>tGc	p.Y133C	PPIB_ENST00000558492.1_5'UTR|SNX22_ENST00000325881.4_3'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	133	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	GCCAGGCCCGTAGTGCTTCAG	0.557																																					GBM(105;399 1481 32889 33051 36637)	ENST00000300026.3																			0				kidney(2)|large_intestine(2)|lung(6)	10						c.(397-399)tAc>tGc		peptidylprolyl isomerase B (cyclophilin B)	L-Proline(DB00172)						132.0	114.0	120.0					15																	64449054		2203	4300	6503	SO:0001583	missense	5479				protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	g.chr15:64449054T>C		CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.398A>G	15.37:g.64449054T>C	ENSP00000300026:p.Tyr133Cys					SNX22_ENST00000325881.4_3'UTR|PPIB_ENST00000558492.1_5'UTR	p.Y133C	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN			4	616	-			133			PPIase cyclophilin-type.		A8K534|Q6IBH5|Q9BVK5	Missense_Mutation	SNP	ENST00000300026.3	37	c.398A>G	CCDS10191.1	.	.	.	.	.	.	.	.	.	.	T	18.71	3.682349	0.68042	.	.	ENSG00000166794	ENST00000300026	T	0.36340	1.26	5.92	4.8	0.61643	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55541	-0.8125	10	0.48119	T	0.1	.	11.4296	0.50032	0.0:0.0707:0.0:0.9293	.	133	P23284	PPIB_HUMAN	C	133	ENSP00000300026:Y133C	ENSP00000300026:Y133C	Y	-	2	0	PPIB	62236107	1.000000	0.71417	0.816000	0.32577	0.968000	0.65278	4.673000	0.61604	1.075000	0.40932	0.454000	0.30748	TAC		0.557	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256604.1			26	88	0	0	0	1	0	26	88				
SERGEF	26297	broad.mit.edu	37	11	18010233	18010233	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18010233G>T	ENST00000265965.5	-	8	906	c.755C>A	c.(754-756)cCt>cAt	p.P252H	SERGEF_ENST00000532265.1_Missense_Mutation_p.P138H|SERGEF_ENST00000528200.1_Missense_Mutation_p.P252H	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	252					negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						CTGGGGCACAGGAAGGAAAGC	0.473																																						ENST00000265965.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						c.(754-756)cCt>cAt		secretion regulating guanine nucleotide exchange factor							139.0	124.0	129.0					11																	18010233		2200	4293	6493	SO:0001583	missense	26297				negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity	g.chr11:18010233G>T	AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.755C>A	11.37:g.18010233G>T	ENSP00000265965:p.Pro252His					SERGEF_ENST00000528200.1_Missense_Mutation_p.P252H|SERGEF_ENST00000532265.1_Missense_Mutation_p.P138H	p.P252H	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN			8	906	-			252					Q9UGK9	Missense_Mutation	SNP	ENST00000265965.5	37	c.755C>A	CCDS7828.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.63|14.63	2.592366|2.592366	0.46214|0.46214	.|.	.|.	ENSG00000129158|ENSG00000129158	ENST00000529151|ENST00000265965;ENST00000528200;ENST00000532265;ENST00000529728;ENST00000530613	.|T;T;T;T;T	.|0.80566	.|-1.39;-1.39;-1.39;-1.39;-1.39	5.72|5.72	4.82|4.82	0.62117|0.62117	.|Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	.|0.311720	.|0.36034	.|N	.|0.002833	T|T	0.81997|0.81997	0.4941|0.4941	L|L	0.60455|0.60455	1.87|1.87	0.37564|0.37564	D|D	0.919174|0.919174	.|D;D;D;D	.|0.76494	.|0.97;0.988;0.999;0.993	.|P;P;P;P	.|0.58970	.|0.619;0.533;0.849;0.72	T|T	0.80056|0.80056	-0.1542|-0.1542	5|10	.|0.14656	.|T	.|0.56	-17.2132|-17.2132	7.8787|7.8787	0.29610|0.29610	0.2384:0.0:0.7616:0.0|0.2384:0.0:0.7616:0.0	.|.	.|138;138;252;252	.|B4DFC0;E9PMV6;Q9UGK8-2;Q9UGK8	.|.;.;.;SRGEF_HUMAN	M|H	116|252;252;138;138;138	.|ENSP00000265965:P252H;ENSP00000434188:P252H;ENSP00000431314:P138H;ENSP00000437297:P138H;ENSP00000436080:P138H	.|ENSP00000265965:P252H	L|P	-|-	1|2	2|0	SERGEF|SERGEF	17966809|17966809	0.484000|0.484000	0.25964|0.25964	0.887000|0.887000	0.34795|0.34795	0.980000|0.980000	0.70556|0.70556	0.628000|0.628000	0.24522|0.24522	1.443000|1.443000	0.47586|0.47586	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.473	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389538.1	NM_012139		20	56	1	0	8.10497e-08	1	8.33977e-08	20	56				
TTC4	7268	broad.mit.edu	37	1	55203289	55203289	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:55203289A>G	ENST00000371281.3	+	9	1100	c.1013A>G	c.(1012-1014)tAc>tGc	p.Y338C	TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	338										breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GCAGAACTATACCGGGTGCCT	0.507																																						ENST00000371281.3																			0				breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						c.(1012-1014)tAc>tGc		tetratricopeptide repeat domain 4							80.0	77.0	78.0					1																	55203289		2203	4300	6503	SO:0001583	missense	7268						binding	g.chr1:55203289A>G		CCDS596.1	1p32	2013-01-11			ENSG00000243725	ENSG00000243725		"""Tetratricopeptide (TTC) repeat domain containing"""	12394	protein-coding gene	gene with protein product		606753				9933562	Standard	NM_004623		Approved	MGC5097, FLJ41930	uc001cxx.4	O95801	OTTHUMG00000009914	ENST00000371281.3:c.1013A>G	1.37:g.55203289A>G	ENSP00000360329:p.Tyr338Cys					TTC4_ENST00000371284.5_3'UTR|MROH7_ENST00000414150.2_3'UTR	p.Y338C	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN			9	1100	+			338					Q53Y95|Q5TA96|Q9H3I2	Missense_Mutation	SNP	ENST00000371281.3	37	c.1013A>G	CCDS596.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.216429	0.39201	.	.	ENSG00000243725	ENST00000371281;ENST00000371284	T	0.02085	4.46	5.42	5.42	0.78866	.	.	.	.	.	T	0.03827	0.0108	M	0.70275	2.135	0.58432	D	0.999999	P;P	0.39862	0.692;0.692	B;B	0.31614	0.133;0.133	T	0.44877	-0.9299	9	0.45353	T	0.12	-9.8353	14.423	0.67196	1.0:0.0:0.0:0.0	.	338;349	O95801;Q5TA95	TTC4_HUMAN;.	C	338;349	ENSP00000360329:Y338C	ENSP00000360329:Y338C	Y	+	2	0	TTC4	54975877	1.000000	0.71417	0.910000	0.35882	0.451000	0.32288	7.169000	0.77578	2.268000	0.75426	0.533000	0.62120	TAC		0.507	TTC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027432.1	NM_004623		4	27	0	0	0	1	0	4	27				
GLDN	342035	broad.mit.edu	37	15	51696750	51696750	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:51696750A>G	ENST00000335449.6	+	10	1511	c.1455A>G	c.(1453-1455)acA>acG	p.T485T	GLDN_ENST00000396399.2_Silent_p.T361T	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	485	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TCTATGTCACAGACACCAAAG	0.453																																						ENST00000335449.6																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1453-1455)acA>acG		gliomedin							166.0	148.0	154.0					15																	51696750		2196	4293	6489	SO:0001819	synonymous_variant	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51696750A>G	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1455A>G	15.37:g.51696750A>G						GLDN_ENST00000396399.2_Silent_p.T361T	p.T485T	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	10	1511	+			485			Olfactomedin-like.		Q6UXZ7|Q7Z359	Silent	SNP	ENST00000335449.6	37	c.1455A>G	CCDS10140.2																																																																																				0.453	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		29	124	0	0	0	1	0	29	124				
NEUROG3	50674	broad.mit.edu	37	10	71332389	71332389	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:71332389T>C	ENST00000242462.4	-	2	440	c.411A>G	c.(409-411)caA>caG	p.Q137Q		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	137					central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						TGCGCAGCGTTTGAGTCAGCG	0.692																																						ENST00000242462.4																			0				endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						c.(409-411)caA>caG		neurogenin 3							68.0	62.0	64.0					10																	71332389		2203	4300	6503	SO:0001819	synonymous_variant	50674				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	g.chr10:71332389T>C	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.411A>G	10.37:g.71332389T>C							p.Q137Q	NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN			2	440	-			137					Q5VVI0|Q6DJX6|Q9BY24	Silent	SNP	ENST00000242462.4	37	c.411A>G	CCDS31212.1																																																																																				0.692	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	NM_020999		19	62	0	0	0	1	0	19	62				
PCDH10	57575	broad.mit.edu	37	4	134073690	134073690	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:134073690C>T	ENST00000264360.5	+	1	3221	c.2395C>T	c.(2395-2397)Ccg>Tcg	p.P799S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	799					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACCCAGTAACCCGGCCCAGGT	0.602																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2395-2397)Ccg>Tcg		protocadherin 10							50.0	47.0	48.0					4																	134073690		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073690C>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2395C>T	4.37:g.134073690C>T	ENSP00000264360:p.Pro799Ser						p.P799S	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3221	+			799					Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2395C>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	7.094	0.572706	0.13623	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52295	0.67	5.01	5.01	0.66863	.	0.000000	0.44902	D	0.000415	T	0.35740	0.0942	L	0.35593	1.075	0.32695	N	0.513658	B;B	0.20164	0.042;0.01	B;B	0.14023	0.01;0.005	T	0.40979	-0.9534	10	0.23302	T	0.38	.	12.9301	0.58282	0.0:0.8365:0.1635:0.0	.	799;799	Q9P2E7;Q96SF0	PCD10_HUMAN;.	S	799	ENSP00000264360:P799S	ENSP00000264360:P799S	P	+	1	0	PCDH10	134293140	0.882000	0.30256	0.998000	0.56505	0.831000	0.47069	1.827000	0.39102	2.322000	0.78497	0.561000	0.74099	CCG		0.602	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		3	39	0	0	0	1	0	3	39				
POU6F1	5463	broad.mit.edu	37	12	51585438	51585438	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:51585438C>T	ENST00000389243.4	-	10	1440	c.501G>A	c.(499-501)caG>caA	p.Q167Q	POU6F1_ENST00000333640.10_Silent_p.Q167Q|POU6F1_ENST00000550824.1_Silent_p.Q167Q			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	167	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						CCTGACCCACCTGGGTCTGTG	0.572																																						ENST00000389243.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(499-501)caG>caA		POU class 6 homeobox 1							71.0	69.0	70.0					12																	51585438		2203	4300	6503	SO:0001819	synonymous_variant	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51585438C>T	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.501G>A	12.37:g.51585438C>T						POU6F1_ENST00000550824.1_Silent_p.Q167Q|POU6F1_ENST00000333640.10_Silent_p.Q167Q	p.Q167Q			Q14863	PO6F1_HUMAN			10	1440	-			167			POU-specific.		Q15944|Q6DK47|Q7Z7P6	Silent	SNP	ENST00000389243.4	37	c.501G>A	CCDS31803.1																																																																																				0.572	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	NM_002702		27	141	0	0	0	1	0	27	141				
ZNF761	388561	broad.mit.edu	37	19	53958826	53958826	+	RNA	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:53958826G>A	ENST00000454407.1	+	0	1518							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AACCTTACAAGTGTAATGAGT	0.418																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							152.0	151.0	151.0					19																	53958826		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958826G>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958826G>A										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1518	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.418	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		9	279	0	0	0	1	0	9	279				
CPSF2	53981	broad.mit.edu	37	14	92600662	92600662	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:92600662A>G	ENST00000298875.4	+	5	663	c.378A>G	c.(376-378)atA>atG	p.I126M		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	126					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TTGATAAAATACAGCAGCTAA	0.323																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.(376-378)atA>atG		cleavage and polyadenylation specific factor 2, 100kDa							73.0	70.0	71.0					14																	92600662		2202	4300	6502	SO:0001583	missense	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92600662A>G	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.378A>G	14.37:g.92600662A>G	ENSP00000298875:p.Ile126Met						p.I126M	NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	5	663	+		all_cancers(154;0.0766)	126					B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.378A>G	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.452655	0.63290	.	.	ENSG00000165934	ENST00000298875	T	0.80123	-1.34	5.61	1.61	0.23674	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.86264	0.5891	M	0.79258	2.445	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	D	0.84087	0.0388	10	0.87932	D	0	.	6.5394	0.22372	0.4833:0.2632:0.0:0.2535	.	126	Q9P2I0	CPSF2_HUMAN	M	126	ENSP00000298875:I126M	ENSP00000298875:I126M	I	+	3	3	CPSF2	91670415	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.077000	0.30741	0.368000	0.24481	-0.345000	0.07892	ATA		0.323	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			3	25	0	0	0	1	0	3	25				
A1CF	29974	broad.mit.edu	37	10	52566593	52566593	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:52566593T>C	ENST00000373993.1	-	11	1725	c.1681A>G	c.(1681-1683)Aag>Gag	p.K561E	A1CF_ENST00000373995.3_Missense_Mutation_p.K561E|A1CF_ENST00000395489.2_Missense_Mutation_p.K554E|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395495.1_Missense_Mutation_p.K506E|A1CF_ENST00000373997.3_Missense_Mutation_p.K553E|A1CF_ENST00000282641.2_Missense_Mutation_p.K561E|A1CF_ENST00000374001.2_Missense_Mutation_p.K553E			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	561					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ACCGCTTGCTTGAGCTGGGCT	0.498																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1660-1662)Aag>Gag		APOBEC1 complementation factor							132.0	117.0	122.0					10																	52566593		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52566593T>C	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1681A>G	10.37:g.52566593T>C	ENSP00000363105:p.Lys561Glu					A1CF_ENST00000373997.3_Missense_Mutation_p.K553E|A1CF_ENST00000374001.1_Missense_Mutation_p.K553E|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000282641.2_Missense_Mutation_p.K561E|A1CF_ENST00000395495.1_Missense_Mutation_p.K506E|A1CF_ENST00000373993.1_Missense_Mutation_p.K561E|A1CF_ENST00000373995.3_Missense_Mutation_p.K561E	p.K554E	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			15	2056	-			561					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.1660A>G	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.913847	0.92178	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.26067	2.3;2.23;2.3;2.18;2.23;1.76;2.21	5.74	5.74	0.90152	.	0.456688	0.25042	N	0.033591	T	0.37865	0.1019	L	0.29908	0.895	0.58432	D	0.999998	D;D;D;D	0.71674	0.998;0.993;0.996;0.998	D;D;D;D	0.78314	0.991;0.971;0.987;0.991	T	0.07177	-1.0786	10	0.32370	T	0.25	-8.4266	13.9982	0.64416	0.0:0.0:0.0:1.0	.	554;561;553;561	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	E	553;561;553;561;561;506;536;554	ENSP00000363113:K553E;ENSP00000363105:K561E;ENSP00000363109:K553E;ENSP00000363107:K561E;ENSP00000282641:K561E;ENSP00000378873:K506E;ENSP00000378868:K554E	ENSP00000282641:K561E	K	-	1	0	A1CF	52236599	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.474000	0.81024	2.192000	0.70111	0.528000	0.53228	AAG		0.498	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		33	95	0	0	0	1	0	33	95				
MASP1	5648	broad.mit.edu	37	3	186944294	186944294	+	Missense_Mutation	SNP	C	C	T	rs376120569		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:186944294C>T	ENST00000337774.5	-	12	1845	c.1456G>A	c.(1456-1458)Gtg>Atg	p.V486M		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	486	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GCGGCGGTCACGATCCAGCTG	0.567																																						ENST00000337774.5																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(1456-1458)Gtg>Atg		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)		C	MET/VAL	5,4401	8.1+/-20.4	0,5,2198	114.0	94.0	101.0		1456	3.0	0.5	3		101	0,8600		0,0,4300	no	missense	MASP1	NM_001879.5	21	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		486/700	186944294	5,13001	2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186944294C>T	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1456G>A	3.37:g.186944294C>T	ENSP00000336792:p.Val486Met						p.V486M	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	12	1845	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		486			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1456G>A	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678134	0.47886	0.001135	0.0	ENSG00000127241	ENST00000337774	D	0.93659	-3.26	5.86	3.0	0.34707	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.88269	0.6391	M	0.62016	1.91	0.80722	D	1	P	0.47350	0.894	B	0.33295	0.161	D	0.83509	0.0079	9	0.52906	T	0.07	.	6.6533	0.22975	0.3285:0.5882:0.0:0.0833	.	486	P48740	MASP1_HUMAN	M	486	ENSP00000336792:V486M	ENSP00000336792:V486M	V	-	1	0	MASP1	188426988	0.996000	0.38824	0.548000	0.28192	0.194000	0.23727	1.784000	0.38674	0.328000	0.23435	0.563000	0.77884	GTG		0.567	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		3	14	0	0	0	1	0	3	14				
WNT5B	81029	broad.mit.edu	37	12	1741947	1741947	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:1741947C>T	ENST00000397196.2	+	3	436	c.204C>T	c.(202-204)caC>caT	p.H68H	WNT5B_ENST00000542408.1_Silent_p.H68H|WNT5B_ENST00000310594.3_Silent_p.H68H|WNT5B_ENST00000537031.1_Silent_p.H68H	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	68					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			ACCAGGAGCACATGGCCTACA	0.602																																						ENST00000397196.2																			0				skin(1)	1						c.(202-204)caC>caT		wingless-type MMTV integration site family, member 5B							79.0	77.0	78.0					12																	1741947		2203	4300	6503	SO:0001819	synonymous_variant	81029				angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1741947C>T	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.204C>T	12.37:g.1741947C>T						WNT5B_ENST00000310594.3_Silent_p.H68H|WNT5B_ENST00000537031.1_Silent_p.H68H|WNT5B_ENST00000542408.1_Silent_p.H68H	p.H68H	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		3	436	+	Ovarian(42;0.107)		68					A8K315|D3DUP9|Q96S49|Q9BV04	Silent	SNP	ENST00000397196.2	37	c.204C>T	CCDS8510.1																																																																																				0.602	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			35	168	0	0	0	1	0	35	168				
SMPD4	55627	broad.mit.edu	37	2	130925042	130925042	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:130925042T>C	ENST00000409031.1	-	9	2046	c.898A>G	c.(898-900)Act>Gct	p.T300A	SMPD4_ENST00000443958.2_5'UTR|SMPD4_ENST00000431183.2_Missense_Mutation_p.T227A|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000452225.2_Silent_p.K13K|SMPD4_ENST00000426662.2_Silent_p.K13K|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000351288.6_Missense_Mutation_p.T300A|SMPD4_ENST00000339679.7_Missense_Mutation_p.T187A	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	261					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	TGGAGCAGAGTTTCTGACCTC	0.552																																						ENST00000409031.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(898-900)Act>Gct		sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	Phosphatidylserine(DB00144)						67.0	62.0	64.0					2																	130925042		2203	4300	6503	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130925042T>C	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.898A>G	2.37:g.130925042T>C	ENSP00000386531:p.Thr300Ala					SMPD4_ENST00000351288.6_Missense_Mutation_p.T300A|SMPD4_ENST00000452225.2_Silent_p.K13K|SMPD4_ENST00000431183.2_Missense_Mutation_p.T227A|SMPD4_ENST00000426662.2_Silent_p.K13K|SMPD4_ENST00000339679.7_Missense_Mutation_p.T187A|SMPD4_ENST00000443958.2_5'UTR|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000453750.1_Intron	p.T300A	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN			9	2046	-	Colorectal(110;0.1)		261					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.898A>G	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.98|13.98	2.400328|2.400328	0.42613|0.42613	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000430682|ENST00000351288;ENST00000409031;ENST00000431183;ENST00000339679;ENST00000451542	.|.	.|.	.|.	3.87|3.87	3.87|3.87	0.44632|0.44632	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46034|0.46034	0.1372|0.1372	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.19073	.|0.013;0.013;0.002;0.033;0.025	.|B;B;B;B;B	.|0.19946	.|0.009;0.009;0.006;0.023;0.027	T|T	0.31998|0.31998	-0.9923|-0.9923	5|9	.|0.17832	.|T	.|0.49	.|.	10.6337|10.6337	0.45551|0.45551	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|227;187;261;261;300	.|E7ESA2;B4E0T5;Q9NXE4-2;Q9NXE4;B1PBA3	.|.;.;.;NSMA3_HUMAN;.	S|A	89|300;300;227;187;77	.|.	.|ENSP00000339721:T187A	N|T	-|-	2|1	0|0	SMPD4|SMPD4	130641512|130641512	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.957000|0.957000	0.61999|0.61999	5.607000|5.607000	0.67648|0.67648	1.378000|1.378000	0.46305|0.46305	0.379000|0.379000	0.24179|0.24179	AAC|ACT		0.552	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		23	72	0	0	0	1	0	23	72				
MEF2C	4208	broad.mit.edu	37	5	88100458	88100458	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:88100458T>C	ENST00000437473.2	-	3	632	c.215A>G	c.(214-216)tAc>tGc	p.Y72C	MEF2C_ENST00000506554.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000340208.5_Missense_Mutation_p.Y72C|MEF2C_ENST00000514015.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000508569.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000539796.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000514028.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000504921.2_Missense_Mutation_p.Y72C|MEF2C_ENST00000424173.2_Missense_Mutation_p.Y72C|MEF2C_ENST00000510942.1_Missense_Mutation_p.Y72C	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	72					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|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)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CGGCTCGTTGTACTCCGTGTA	0.547										HNSCC(66;0.2)																												ENST00000504921.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(214-216)tAc>tGc		myocyte enhancer factor 2C							149.0	136.0	140.0					5																	88100458		2203	4300	6503	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|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	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88100458T>C	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.215A>G	5.37:g.88100458T>C	ENSP00000396219:p.Tyr72Cys	HNSCC(66;0.2)				MEF2C_ENST00000539796.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000506554.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000340208.5_Missense_Mutation_p.Y72C|MEF2C_ENST00000508569.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000514015.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000514028.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000510942.1_Missense_Mutation_p.Y72C|MEF2C_ENST00000437473.2_Missense_Mutation_p.Y72C|MEF2C_ENST00000424173.2_Missense_Mutation_p.Y72C	p.Y72C			Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	3	887	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	72					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.215A>G	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.859947	0.91433	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716;ENST00000507984;ENST00000502983;ENST00000508610;ENST00000502831;ENST00000503075	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.5	5.5	0.81552	Transcription factor, MADS-box (1);	0.000000	0.85682	D	0.000000	D	0.90058	0.6895	M	0.66939	2.045	0.80722	D	1	P;D;D;D	0.89917	0.954;1.0;1.0;1.0	D;D;D;D	0.97110	0.921;1.0;0.997;1.0	D	0.91164	0.4963	10	0.87932	D	0	-6.2542	15.6133	0.76744	0.0:0.0:0.0:1.0	.	72;72;72;72	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	C	72	ENSP00000340874:Y72C;ENSP00000389610:Y72C;ENSP00000421925:Y72C;ENSP00000426665:Y72C;ENSP00000396219:Y72C;ENSP00000422390:Y72C;ENSP00000425636:Y72C;ENSP00000423597:Y72C;ENSP00000424606:Y72C;ENSP00000441153:Y72C;ENSP00000423826:Y72C;ENSP00000423656:Y72C;ENSP00000424331:Y72C;ENSP00000427163:Y72C;ENSP00000426442:Y72C;ENSP00000427286:Y72C;ENSP00000426465:Y72C	ENSP00000340874:Y72C	Y	-	2	0	MEF2C	88136214	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.085000	0.62840	0.533000	0.62120	TAC		0.547	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		15	48	0	0	0	1	0	15	48				
MAPK7	5598	broad.mit.edu	37	17	19284283	19284283	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:19284283A>G	ENST00000308406.5	+	4	1147	c.761A>G	c.(760-762)gAg>gGg	p.E254G	MFAP4_ENST00000574313.2_5'Flank|MAPK7_ENST00000299612.7_Missense_Mutation_p.E115G|B9D1_ENST00000477478.2_5'Flank|B9D1_ENST00000575403.1_5'Flank|MAPK7_ENST00000395604.3_Missense_Mutation_p.E254G|MAPK7_ENST00000395602.4_Missense_Mutation_p.E254G|MAPK7_ENST00000571657.1_Intron	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	254	Necessary for oligomerization. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					ATCTTTGGTGAGATGCTGGCC	0.562																																						ENST00000308406.5																			0				autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30						c.(760-762)gAg>gGg		mitogen-activated protein kinase 7							39.0	40.0	39.0					17																	19284283		2203	4300	6503	SO:0001583	missense	5598				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr17:19284283A>G	U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"""Mitogen-activated protein kinase cascade / Kinases"""	6880	protein-coding gene	gene with protein product	"""BMK1 kinase"", ""extracellular-signal-regulated kinase 5"""	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.761A>G	17.37:g.19284283A>G	ENSP00000311005:p.Glu254Gly					MAPK7_ENST00000395602.4_Missense_Mutation_p.E254G|MAPK7_ENST00000299612.7_Missense_Mutation_p.E115G|MAPK7_ENST00000395604.3_Missense_Mutation_p.E254G|MAPK7_ENST00000571657.1_Intron	p.E254G	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN			4	1147	+	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		254			Necessary for oligomerization (By similarity).|Protein kinase.		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	ENST00000308406.5	37	c.761A>G	CCDS11206.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.955287	0.73902	.	.	ENSG00000166484	ENST00000308406;ENST00000299612;ENST00000395604;ENST00000395602	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	4.74	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80628	0.4659	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86533	0.1823	10	0.87932	D	0	-23.9647	12.5026	0.55964	1.0:0.0:0.0:0.0	.	254	Q13164	MK07_HUMAN	G	254;115;254;254	ENSP00000311005:E254G;ENSP00000299612:E115G;ENSP00000378968:E254G;ENSP00000378966:E254G	ENSP00000299612:E115G	E	+	2	0	MAPK7	19224876	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.997000	0.93544	1.894000	0.54839	0.459000	0.35465	GAG		0.562	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132506.1	NM_139033		13	43	0	0	0	1	0	13	43				
ZNF28	7576	broad.mit.edu	37	19	53303779	53303779	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:53303779T>G	ENST00000457749.2	-	4	1438	c.1319A>C	c.(1318-1320)aAg>aCg	p.K440T	ZNF28_ENST00000438150.2_Missense_Mutation_p.K387T|ZNF28_ENST00000414252.2_Missense_Mutation_p.K387T|ZNF28_ENST00000360272.4_Missense_Mutation_p.K387T	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	440					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTCATTACACTTGTAAGGCTT	0.373																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1159-1161)aAg>aCg		zinc finger protein 28							110.0	116.0	114.0					19																	53303779		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303779T>G	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1319A>C	19.37:g.53303779T>G	ENSP00000397693:p.Lys440Thr					ZNF28_ENST00000457749.2_Missense_Mutation_p.K440T|ZNF28_ENST00000360272.4_Missense_Mutation_p.K387T|ZNF28_ENST00000414252.2_Missense_Mutation_p.K387T	p.K387T			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	2053	-			440					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1160A>C	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	6.708	0.499402	0.12762	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19	1.74	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18215	0.0437	L	0.49256	1.55	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.21724	-1.0237	9	0.52906	T	0.07	.	5.643	0.17575	0.0:0.0:0.2808:0.7192	.	440	P17035	ZNF28_HUMAN	T	387;440;387;387;387	ENSP00000412143:K387T;ENSP00000397693:K440T;ENSP00000353410:K387T;ENSP00000444965:K387T;ENSP00000375661:K387T	ENSP00000353410:K387T	K	-	2	0	ZNF28	57995591	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	-0.923000	0.04000	0.792000	0.33850	0.156000	0.16432	AAG		0.373	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		13	160	0	0	0	1	0	13	160				
FRS3	10817	broad.mit.edu	37	6	41738916	41738916	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:41738916G>A	ENST00000373018.3	-	7	1171	c.920C>T	c.(919-921)cCg>cTg	p.P307L	FRS3_ENST00000259748.2_Missense_Mutation_p.P307L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	307					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ATTCCAGCCCGGCTCCTCTGG	0.687																																						ENST00000373018.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(919-921)cCg>cTg		fibroblast growth factor receptor substrate 3							33.0	36.0	35.0					6																	41738916		2203	4300	6503	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738916G>A	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.920C>T	6.37:g.41738916G>A	ENSP00000362109:p.Pro307Leu					FRS3_ENST00000259748.2_Missense_Mutation_p.P307L	p.P307L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1171	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		307					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.920C>T	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	G	9.861	1.196309	0.22037	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.21191	2.02;2.02	5.76	2.56	0.30785	.	0.405610	0.29522	N	0.011905	T	0.02193	0.0068	N	0.04508	-0.205	0.38413	D	0.94597	B	0.02656	0.0	B	0.01281	0.0	T	0.36939	-0.9727	10	0.11182	T	0.66	-12.4804	4.9687	0.14103	0.2601:0.185:0.5549:0.0	.	307	O43559	FRS3_HUMAN	L	307	ENSP00000362109:P307L;ENSP00000259748:P307L	ENSP00000259748:P307L	P	-	2	0	FRS3	41846894	0.000000	0.05858	0.835000	0.33067	0.996000	0.88848	0.177000	0.16801	0.753000	0.32945	0.655000	0.94253	CCG		0.687	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		22	40	0	0	0	1	0	22	40				
CDKN2C	1031	broad.mit.edu	37	1	51439640	51439640	+	Missense_Mutation	SNP	A	A	G	rs139629762	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:51439640A>G	ENST00000262662.1	+	4	2239	c.205A>G	c.(205-207)Act>Gct	p.T69A	CDKN2C_ENST00000371761.3_Missense_Mutation_p.T69A|CDKN2C_ENST00000396148.1_Missense_Mutation_p.T69A			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	69					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		GAAAGACCGAACTGGTTTCGC	0.443			D		"""glioma, MM"""								A|||	2	0.000399361	0.0015	0.0	5008	,	,		20558	0.0		0.0	False		,,,				2504	0.0				Melanoma(47;50 1155 4767 22863 47597)	ENST00000262662.1				Rec	yes		1	1p32	1031	D	"""cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"""			"""O, L"""			"""glioma, MM"""		12	Whole gene deletion(11)|Unknown(1)	p.0?(11)|p.?(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1)	central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23						c.(205-207)Act>Gct		cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)		A	ALA/THR,ALA/THR	4,4402	8.1+/-20.4	0,4,2199	100.0	98.0	98.0		205,205	5.3	1.0	1	dbSNP_134	98	0,8600		0,0,4300	no	missense,missense	CDKN2C	NM_001262.2,NM_078626.2	58,58	0,4,6499	GG,GA,AA		0.0,0.0908,0.0308	benign,benign	69/169,69/169	51439640	4,13002	2203	4300	6503	SO:0001583	missense	1031				cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr1:51439640A>G	BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"""Ankyrin repeat domain containing"""	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.205A>G	1.37:g.51439640A>G	ENSP00000262662:p.Thr69Ala					CDKN2C_ENST00000396148.1_Missense_Mutation_p.T69A|CDKN2C_ENST00000371761.3_Missense_Mutation_p.T69A	p.T69A			P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	4	2239	+			69					Q8TB83	Missense_Mutation	SNP	ENST00000262662.1	37	c.205A>G	CCDS555.1	.	.	.	.	.	.	.	.	.	.	A	10.96	1.500060	0.26861	9.08E-4	0.0	ENSG00000123080	ENST00000262662;ENST00000396148;ENST00000371761	T;T;T	0.70631	-0.5;-0.5;-0.5	5.31	5.31	0.75309	Ankyrin repeat-containing domain (3);	0.255214	0.41294	D	0.000920	T	0.60650	0.2285	L	0.41236	1.265	0.40876	D	0.983958	B	0.02656	0.0	B	0.01281	0.0	T	0.59075	-0.7522	10	0.44086	T	0.13	-8.4635	10.5905	0.45306	0.9256:0.0:0.0744:0.0	.	69	P42773	CDN2C_HUMAN	A	69	ENSP00000262662:T69A;ENSP00000379452:T69A;ENSP00000360826:T69A	ENSP00000262662:T69A	T	+	1	0	CDKN2C	51212228	0.967000	0.33354	1.000000	0.80357	0.998000	0.95712	4.661000	0.61518	2.236000	0.73375	0.533000	0.62120	ACT		0.443	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262		24	52	0	0	0	1	0	24	52				
MSH2	4436	broad.mit.edu	37	2	47635647	47635647	+	Missense_Mutation	SNP	G	G	A	rs587779158		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:47635647G>A	ENST00000233146.2	+	2	542	c.319G>A	c.(319-321)Gct>Act	p.A107T	MSH2_ENST00000543555.1_Missense_Mutation_p.A41T|MSH2_ENST00000406134.1_Missense_Mutation_p.A107T	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	107					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAAGAATAGAGCTGGAAATAA	0.289			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"""D, Mis, N, F, S"""	mutS homolog 2 (E. coli)			E		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(3)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112	GRCh37	CM011414	MSH2	M		c.(319-321)Gct>Act	Mismatch excision repair (MMR)	mutS homolog 2							86.0	91.0	89.0					2																	47635647		2203	4299	6502	SO:0001583	missense	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47635647G>A	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.319G>A	2.37:g.47635647G>A	ENSP00000233146:p.Ala107Thr					MSH2_ENST00000543555.1_Missense_Mutation_p.A41T|MSH2_ENST00000233146.2_Missense_Mutation_p.A107T	p.A107T			P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		2	381	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	107					B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	c.319G>A	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539518	0.27563	.	.	ENSG00000095002	ENST00000233146;ENST00000454849;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000448533;ENST00000394792	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.31	5.31	0.75309	DNA mismatch repair protein MutS-like, N-terminal (1);	0.170321	0.51477	D	0.000081	T	0.81692	0.4876	N	0.19112	0.55	0.42866	D	0.994123	B;P;B	0.39352	0.032;0.669;0.163	B;B;B	0.38106	0.019;0.265;0.076	T	0.82999	-0.0178	10	0.44086	T	0.13	-18.8654	13.8898	0.63731	0.0:0.0:0.8476:0.1524	.	107;107;107	E7EQQ1;E9PHA6;P43246	.;.;MSH2_HUMAN	T	107;41;41;107;107;107;107;107;107	ENSP00000233146:A107T;ENSP00000411482:A41T;ENSP00000442697:A41T;ENSP00000384199:A107T	ENSP00000233146:A107T	A	+	1	0	MSH2	47489151	1.000000	0.71417	0.997000	0.53966	0.017000	0.09413	3.817000	0.55668	2.476000	0.83614	0.467000	0.42956	GCT		0.289	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			24	59	0	0	0	1	0	24	59				
KIAA1549L	25758	broad.mit.edu	37	11	33565125	33565125	+	Silent	SNP	G	G	A	rs189636606	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:33565125G>A	ENST00000321505.4	+	1	1305	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S	KIAA1549L_ENST00000389726.3_Silent_p.S375S|KIAA1549L_ENST00000265654.5_Silent_p.S375S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	375						integral component of membrane (GO:0016021)											TGAGAGCATCGCCCTCCTCCA	0.483											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0	0.0	5008	,	,		20399	0.0		0.002	False		,,,				2504	0.0					ENST00000321505.4																			0											c.(1123-1125)tcG>tcA		KIAA1549-like		G		0,3870		0,0,1935	45.0	44.0	44.0		1125	1.6	0.3	11		44	1,8291		0,1,4145	no	coding-synonymous	C11orf41	NM_012194.2		0,1,6080	AA,AG,GG		0.0121,0.0,0.0082		375/1850	33565125	1,12161	1935	4146	6081	SO:0001819	synonymous_variant	25758							g.chr11:33565125G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1125G>A	11.37:g.33565125G>A			OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	KIAA1549L_ENST00000265654.5_Silent_p.S375S|KIAA1549L_ENST00000389726.3_Silent_p.S375S	p.S375S							1	1305	+								B0QYU0	Silent	SNP	ENST00000321505.4	37	c.1125G>A	CCDS44565.2																																																																																				0.483	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		14	50	0	0	0	1	0	14	50				
MYO5A	4644	broad.mit.edu	37	15	52684237	52684237	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:52684237T>C	ENST00000399231.3	-	12	1675	c.1432A>G	c.(1432-1434)Atg>Gtg	p.M478V	MYO5A_ENST00000356338.6_Missense_Mutation_p.M478V|MYO5A_ENST00000553916.1_Missense_Mutation_p.M478V|MYO5A_ENST00000399233.2_Missense_Mutation_p.M478V|MYO5A_ENST00000358212.6_Missense_Mutation_p.M478V	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	478	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGTTCCTTCATATATTCTTCT	0.313																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(1432-1434)Atg>Gtg		myosin VA (heavy chain 12, myoxin)							83.0	78.0	79.0					15																	52684237		1817	4073	5890	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52684237T>C		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1432A>G	15.37:g.52684237T>C	ENSP00000382177:p.Met478Val					MYO5A_ENST00000553916.1_Missense_Mutation_p.M478V|MYO5A_ENST00000356338.6_Missense_Mutation_p.M478V|MYO5A_ENST00000399233.2_Missense_Mutation_p.M478V|MYO5A_ENST00000358212.6_Missense_Mutation_p.M478V	p.M478V	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	12	1675	-			478			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.1432A>G	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.895346	0.52121	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11	5.68	5.68	0.88126	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.76821	0.4041	N	0.11724	0.165	0.80722	D	1	B;B	0.31351	0.009;0.32	B;B	0.30716	0.03;0.119	T	0.74627	-0.3602	10	0.21014	T	0.42	.	15.9253	0.79611	0.0:0.0:0.0:1.0	.	478;478	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	V	478;12;478;478;478;108;478	ENSP00000382177:M478V;ENSP00000382179:M478V;ENSP00000348693:M478V;ENSP00000350945:M478V;ENSP00000451109:M478V	ENSP00000348693:M478V	M	-	1	0	MYO5A	50471529	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.174000	0.71943	2.153000	0.67306	0.528000	0.53228	ATG		0.313	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		6	32	0	0	0	1	0	6	32				
SEC61A2	55176	broad.mit.edu	37	10	12197792	12197792	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:12197792T>C	ENST00000298428.9	+	7	567	c.478T>C	c.(478-480)Ttg>Ctg	p.L160L	SEC61A2_ENST00000379020.4_Silent_p.L160L|SEC61A2_ENST00000304267.8_Silent_p.L160L|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379033.3_Silent_p.L138L	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	160					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				TGTTGCTGGTTTGATTGTGCT	0.468																																						ENST00000379033.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(412-414)Ttg>Ctg		Sec61 alpha 2 subunit (S. cerevisiae)							318.0	296.0	303.0					10																	12197792		2203	4300	6503	SO:0001819	synonymous_variant	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12197792T>C	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.478T>C	10.37:g.12197792T>C						SEC61A2_ENST00000298428.9_Silent_p.L160L|SEC61A2_ENST00000304267.8_Silent_p.L160L|SEC61A2_ENST00000379020.4_Silent_p.L160L|SEC61A2_ENST00000495368.1_3'UTR	p.L138L	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN			6	559	+		Renal(717;0.228)	160					A8K8D0|B4DX72|F8W773	Silent	SNP	ENST00000298428.9	37	c.412T>C	CCDS7088.1	.	.	.	.	.	.	.	.	.	.	T	9.433	1.086044	0.20390	.	.	ENSG00000065665	ENST00000419021	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	T	0.61337	0.2339	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60596	-0.7232	4	.	.	.	-11.7037	9.9192	0.41453	0.0:0.0756:0.0:0.9244	.	.	.	.	S	41	.	.	F	+	2	0	SEC61A2	12237798	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.761000	0.47589	2.302000	0.77476	0.533000	0.62120	TTT		0.468	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144		55	445	0	0	0	1	0	55	445				
HSPG2	3339	broad.mit.edu	37	1	22183543	22183543	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:22183543G>A	ENST00000374695.3	-	44	5619	c.5540C>T	c.(5539-5541)gCc>gTc	p.A1847V	HSPG2_ENST00000430507.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1847	Ig-like C2-type 3.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CTGGTCCATGGCAAACATGTT	0.562																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(5539-5541)gCc>gTc		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						165.0	138.0	148.0					1																	22183543		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22183543G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.5540C>T	1.37:g.22183543G>A	ENSP00000363827:p.Ala1847Val						p.A1847V	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	44	5619	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1847			Ig-like C2-type 3.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.5540C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949730	0.73787	.	.	ENSG00000142798	ENST00000374695	T	0.27402	1.67	4.67	4.67	0.58626	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36555	N	0.002526	T	0.41190	0.1148	L	0.32530	0.975	0.39562	D	0.96914	D	0.76494	0.999	D	0.71414	0.973	T	0.36648	-0.9739	10	0.72032	D	0.01	.	10.6522	0.45655	0.0:0.0:0.8084:0.1916	.	1847	P98160	PGBM_HUMAN	V	1847	ENSP00000363827:A1847V	ENSP00000363827:A1847V	A	-	2	0	HSPG2	22056130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.302000	0.43637	2.321000	0.78463	0.655000	0.94253	GCC		0.562	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		6	170	0	0	0	1	0	6	170				
VWA8	23078	broad.mit.edu	37	13	42440146	42440146	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:42440146A>G	ENST00000379310.3	-	11	1307	c.1239T>C	c.(1237-1239)agT>agC	p.S413S	VWA8_ENST00000281496.6_Silent_p.S413S	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	413						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CACAAGGTTGACTTAATAGCC	0.443																																						ENST00000379310.3																			0											c.(1237-1239)agT>agC		von Willebrand factor A domain containing 8							99.0	99.0	99.0					13																	42440146		2203	4300	6503	SO:0001819	synonymous_variant	23078							g.chr13:42440146A>G	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1239T>C	13.37:g.42440146A>G						VWA8_ENST00000281496.6_Silent_p.S413S	p.S413S	NM_015058.1	NP_055873.1					11	1307	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	c.1239T>C	CCDS41881.1																																																																																				0.443	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		7	120	0	0	0	1	0	7	120				
ATXN7	6314	broad.mit.edu	37	3	63981379	63981379	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:63981379A>G	ENST00000295900.6	+	12	2431	c.1881A>G	c.(1879-1881)gcA>gcG	p.A627A	ATXN7_ENST00000484332.1_Silent_p.A482A|ATXN7_ENST00000487717.1_Silent_p.A627A|ATXN7_ENST00000538065.1_Silent_p.A627A|ATXN7_ENST00000398590.3_Silent_p.A627A	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	627					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CACTAAATGCACAGCCTGCTG	0.547																																						ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(1879-1881)gcA>gcG		ataxin 7							171.0	178.0	176.0					3																	63981379		2187	4275	6462	SO:0001819	synonymous_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63981379A>G	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1881A>G	3.37:g.63981379A>G						ATXN7_ENST00000295900.6_Silent_p.A627A|ATXN7_ENST00000487717.1_Silent_p.A627A|ATXN7_ENST00000484332.1_Silent_p.A482A|ATXN7_ENST00000538065.1_Silent_p.A627A	p.A627A	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	12	2434	+		Prostate(884;0.0181)	627					B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Silent	SNP	ENST00000295900.6	37	c.1881A>G	CCDS43102.1																																																																																				0.547	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		49	143	0	0	0	1	0	49	143				
BLVRA	644	broad.mit.edu	37	7	43827605	43827605	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:43827605C>T	ENST00000402924.1	+	4	278	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	BLVRA_ENST00000265523.4_Silent_p.L39L	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	39					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						GTTCCTGAACCTGATTGGCTT	0.552																																						ENST00000402924.1																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						c.(115-117)Ctg>Ttg		biliverdin reductase A	NADH(DB00157)						240.0	185.0	203.0					7																	43827605		2203	4300	6503	SO:0001819	synonymous_variant	644				heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding	g.chr7:43827605C>T	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.115C>T	7.37:g.43827605C>T						BLVRA_ENST00000265523.4_Silent_p.L39L	p.L39L	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN			4	278	+			39					A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Silent	SNP	ENST00000402924.1	37	c.115C>T	CCDS5472.1																																																																																				0.552	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		43	138	0	0	0	1	0	43	138				
PPAN	56342	broad.mit.edu	37	19	10220380	10220380	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10220380A>G	ENST00000253107.7	+	6	693	c.587A>G	c.(586-588)cAc>cGc	p.H196R	PPAN_ENST00000393793.1_Missense_Mutation_p.H143R|PPAN_ENST00000556468.1_Missense_Mutation_p.H196R|P2RY11_ENST00000321826.4_5'Flank|SNORD105B_ENST00000458770.1_RNA|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.H196R|SNORD105_ENST00000386910.1_RNA|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.H196R	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	196	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GACTTCCGCCACTAGTGAGTG	0.607																																						ENST00000428358.1																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(586-588)cAc>cGc									110.0	127.0	121.0					19																	10220380		2202	4300	6502	SO:0001583	missense	692312				RNA splicing	nucleolus	protein binding	g.chr19:10220380A>G	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.587A>G	19.37:g.10220380A>G	ENSP00000253107:p.His196Arg					PPAN_ENST00000393793.1_Missense_Mutation_p.H143R|PPAN_ENST00000556468.1_Missense_Mutation_p.H196R|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.H196R|PPAN_ENST00000253107.7_Missense_Mutation_p.H196R	p.H196R	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		6	759	+			196			Brix.		C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	c.587A>G	CCDS12225.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300237	0.81136	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793;ENST00000446223	T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73	5.12	5.12	0.69794	Brix domain (3);	.	.	.	.	T	0.62011	0.2393	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.73908	-0.3834	9	0.87932	D	0	-29.832	13.8926	0.63750	1.0:0.0:0.0:0.0	.	196;196;196	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	R	196;196;196;196;196;143;134	ENSP00000411918:H196R;ENSP00000377385:H196R;ENSP00000253107:H196R;ENSP00000450710:H196R;ENSP00000377382:H143R;ENSP00000410485:H134R	ENSP00000253107:H196R	H	+	2	0	PPAN;PPAN-P2RY11	10081380	1.000000	0.71417	0.969000	0.41365	0.806000	0.45545	5.293000	0.65680	1.937000	0.56155	0.459000	0.35465	CAC		0.607	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		52	204	0	0	0	1	0	52	204				
LRRC16B	90668	broad.mit.edu	37	14	24524815	24524815	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:24524815G>T	ENST00000342740.5	+	9	823	c.669G>T	c.(667-669)aaG>aaT	p.K223N	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	223						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TCTACTGCAAGGACTTGCGGC	0.597																																						ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(667-669)aaG>aaT		leucine rich repeat containing 16B							106.0	106.0	106.0					14																	24524815		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24524815G>T	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.669G>T	14.37:g.24524815G>T	ENSP00000340467:p.Lys223Asn					LRRC16B_ENST00000334420.7_5'UTR	p.K223N	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	9	823	+			223					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.669G>T	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629427	0.28978	.	.	ENSG00000186648	ENST00000342740	T	0.52983	0.64	4.93	0.718	0.18202	.	0.062087	0.64402	D	0.000009	T	0.28433	0.0703	N	0.10760	0.04	0.80722	D	1	D	0.58268	0.982	P	0.49421	0.61	T	0.04522	-1.0945	10	0.30078	T	0.28	-19.6033	6.3321	0.21276	0.5833:0.0:0.4167:0.0	.	223	Q8ND23	LR16B_HUMAN	N	223	ENSP00000340467:K223N	ENSP00000340467:K223N	K	+	3	2	LRRC16B	23594655	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	1.649000	0.37281	0.067000	0.16545	0.313000	0.20887	AAG		0.597	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		37	116	1	0	7.04047e-22	1	7.4361e-22	37	116				
OR2H2	7932	broad.mit.edu	37	6	29556088	29556088	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:29556088G>A	ENST00000383640.2	+	1	406	c.367G>A	c.(367-369)Gct>Act	p.A123T	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	123					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	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)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TCGCTACGTGGCTGTCTGCCA	0.577																																						ENST00000383640.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(367-369)Gct>Act		olfactory receptor, family 2, subfamily H, member 2							127.0	130.0	129.0					6																	29556088		1511	2709	4220	SO:0001583	missense	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29556088G>A		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.367G>A	6.37:g.29556088G>A	ENSP00000373136:p.Ala123Thr					GABBR1_ENST00000355973.3_Intron	p.A123T	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN			1	406	+			123					Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	c.367G>A	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323741	0.60634	.	.	ENSG00000204657	ENST00000383640	T	0.00912	5.55	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000949	T	0.07143	0.0181	H	0.97415	4	0.43637	D	0.996039	D	0.89917	1.0	D	0.87578	0.998	T	0.02574	-1.1139	10	0.87932	D	0	.	15.9828	0.80125	0.0:0.0:1.0:0.0	.	123	O95918	OR2H2_HUMAN	T	123	ENSP00000373136:A123T	ENSP00000373136:A123T	A	+	1	0	OR2H2	29664067	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	6.041000	0.70988	2.292000	0.77174	0.585000	0.79938	GCT		0.577	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			33	105	0	0	0	1	0	33	105				
KSR2	283455	broad.mit.edu	37	12	118199073	118199073	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:118199073C>T	ENST00000339824.5	-	4	1456	c.729G>A	c.(727-729)tcG>tcA	p.S243S	KSR2_ENST00000425217.1_Silent_p.S214S			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	243	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACGGTGGCCCGACTCCAGTG	0.751																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(640-642)tcG>tcA		kinase suppressor of ras 2																																				SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118199073C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.729G>A	12.37:g.118199073C>T						KSR2_ENST00000339824.5_Silent_p.S243S	p.S214S	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			4	696	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		243			Pro-rich.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.642G>A																																																																																					0.751	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		39	80	0	0	0	1	0	39	80				
MAN2B2	23324	broad.mit.edu	37	4	6612992	6612992	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:6612992C>T	ENST00000285599.3	+	15	2586	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	MAN2B2_ENST00000504248.1_Silent_p.F799F	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	850					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGGTGCTGTTCGGAGACCTCG	0.657																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(2548-2550)ttC>ttT		mannosidase, alpha, class 2B, member 2							34.0	34.0	34.0					4																	6612992		2203	4300	6503	SO:0001819	synonymous_variant	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6612992C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.2550C>T	4.37:g.6612992C>T						MAN2B2_ENST00000504248.1_Silent_p.F799F	p.F850F	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			15	2586	+			850					Q66MP2|Q86T67	Silent	SNP	ENST00000285599.3	37	c.2550C>T	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	0.895	-0.724225	0.03158	.	.	ENSG00000013288	ENST00000505907	.	.	.	4.8	-9.6	0.00553	.	.	.	.	.	T	0.14917	0.0360	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.13045	-1.0524	4	.	.	.	-3.5698	2.2119	0.03950	0.1663:0.1634:0.3847:0.2856	.	.	.	.	L	849	.	.	S	+	2	0	MAN2B2	6663893	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-0.856000	0.04290	-2.374000	0.00599	-0.145000	0.13849	TCG		0.657	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		9	42	0	0	0	1	0	9	42				
OR9I1	219954	broad.mit.edu	37	11	57886446	57886446	+	Silent	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:57886446G>T	ENST00000302610.1	-	1	470	c.471C>A	c.(469-471)atC>atA	p.I157I	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TGGTACGCAGGATGGCTCCTG	0.552																																						ENST00000302610.1																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(469-471)atC>atA		olfactory receptor, family 9, subfamily I, member 1							56.0	55.0	55.0					11																	57886446		2201	4296	6497	SO:0001819	synonymous_variant	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886446G>T	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.471C>A	11.37:g.57886446G>T						OR9Q1_ENST00000335397.3_Intron	p.I157I	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN			1	470	-		Breast(21;0.0589)	157					Q6IFH0|Q96RA8	Silent	SNP	ENST00000302610.1	37	c.471C>A	CCDS31542.1																																																																																				0.552	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		7	73	1	0	0.000157383	1	0.00015972	7	73				
ACBD4	79777	broad.mit.edu	37	17	43220866	43220866	+	IGR	SNP	G	G	A	rs371852063		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:43220866G>A	ENST00000376955.4	+	0	1453				ACBD4_ENST00000431281.1_Missense_Mutation_p.R295H|ACBD4_ENST00000398322.3_Silent_p.A282A|ACBD4_ENST00000321854.8_Silent_p.A282A|ACBD4_ENST00000592162.1_Missense_Mutation_p.A236T|ACBD4_ENST00000591859.1_Missense_Mutation_p.R295H|ACBD4_ENST00000586346.1_Missense_Mutation_p.R295H	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4								fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						CGGGGCCCGCGCTGCTCTTCT	0.657																																						ENST00000431281.1																			0				kidney(1)|lung(3)|ovary(1)	5						c.(883-885)cGc>cAc		acyl-CoA binding domain containing 4		G	HIS/ARG,,HIS/ARG,	0,3996		0,0,1998	46.0	51.0	49.0		884,846,884,846	-0.5	0.2	17		49	1,8279		0,1,4139	no	missense,coding-synonymous,missense,coding-synonymous	ACBD4	NM_001135704.1,NM_001135705.1,NM_001135706.1,NM_024722.2	29,,29,	0,1,6137	AA,AG,GG		0.0121,0.0,0.0081	,,,	295/342,282/306,295/342,282/306	43220866	1,12275	1998	4140	6138	SO:0001628	intergenic_variant	79777						fatty-acyl-CoA binding	g.chr17:43220866G>A	BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 4"""				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111		17.37:g.43220866G>A						ACBD4_ENST00000592162.1_Missense_Mutation_p.A236T|ACBD4_ENST00000591859.1_Missense_Mutation_p.R295H|ACBD4_ENST00000398322.3_Silent_p.A282A|ACBD4_ENST00000586346.1_Missense_Mutation_p.R295H|ACBD4_ENST00000321854.8_Silent_p.A282A	p.R295H	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN			12	1353	+			0					D3DX64|Q8IUT1|Q9H8Q4	Missense_Mutation	SNP	ENST00000376955.4	37	c.884G>A	CCDS45711.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155771	0.78114	0.0	1.21E-4	ENSG00000181513	ENST00000431281;ENST00000321854	T	0.19105	2.17	5.67	-0.52	0.11935	.	0.920579	0.09129	N	0.844601	T	0.14700	0.0355	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.32771	-0.9894	9	0.87932	D	0	.	5.5863	0.17277	0.3506:0.1402:0.5092:0.0	.	295	Q8NC06-3	.	H	295	ENSP00000405969:R295H	ENSP00000314440:R295H	R	+	2	0	ACBD4	40576649	0.011000	0.17503	0.235000	0.24058	0.197000	0.23852	-0.393000	0.07305	0.055000	0.16094	0.561000	0.74099	CGC		0.657	ACBD4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000449816.1	NM_024722		20	53	0	0	0	1	0	20	53				
GFI1	2672	broad.mit.edu	37	1	92946223	92946223	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:92946223A>G	ENST00000370332.1	-	4	1039	c.721T>C	c.(721-723)Tcg>Ccg	p.S241P	GFI1_ENST00000427103.1_Missense_Mutation_p.S241P|GFI1_ENST00000294702.5_Missense_Mutation_p.S241P|GFI1_ENST00000483490.1_5'Flank	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	241	Required for interaction with RELA.				auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		AGCAGCTCCGACTCCACCTTG	0.692																																						ENST00000370332.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(721-723)Tcg>Ccg		growth factor independent 1 transcription repressor							7.0	10.0	9.0					1																	92946223		2106	4156	6262	SO:0001583	missense	2672				negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr1:92946223A>G	U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"""Zinc fingers, C2H2-type"""	4237	protein-coding gene	gene with protein product		600871	"""growth factor independent 1"""	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.721T>C	1.37:g.92946223A>G	ENSP00000359357:p.Ser241Pro					GFI1_ENST00000427103.1_Missense_Mutation_p.S241P|GFI1_ENST00000294702.5_Missense_Mutation_p.S241P	p.S241P	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)	4	1039	-		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)	241					Q8N564	Missense_Mutation	SNP	ENST00000370332.1	37	c.721T>C	CCDS30773.1	.	.	.	.	.	.	.	.	.	.	a	9.542	1.113647	0.20795	.	.	ENSG00000162676	ENST00000370332;ENST00000427103;ENST00000294702	T;T;T	0.09817	2.94;2.94;2.94	4.05	4.05	0.47172	.	0.275206	0.36200	N	0.002727	T	0.06325	0.0163	L	0.54323	1.7	0.49213	D	0.999767	B	0.15719	0.014	B	0.15870	0.014	T	0.06162	-1.0842	10	0.87932	D	0	-18.0031	13.1429	0.59444	1.0:0.0:0.0:0.0	.	241	Q99684	GFI1_HUMAN	P	241	ENSP00000359357:S241P;ENSP00000399719:S241P;ENSP00000294702:S241P	ENSP00000294702:S241P	S	-	1	0	GFI1	92718811	1.000000	0.71417	0.950000	0.38849	0.007000	0.05969	1.817000	0.39002	1.833000	0.53350	0.370000	0.22315	TCG		0.692	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030054.1	NM_005263		3	11	0	0	0	1	0	3	11				
FBXO25	26260	broad.mit.edu	37	8	363094	363094	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:363094T>C	ENST00000276326.5	+	2	134	c.15T>C	c.(13-15)ggT>ggC	p.G5G	FBXO25_ENST00000352684.2_5'UTR|FBXO25_ENST00000382824.1_5'UTR|FBXO25_ENST00000350302.3_Silent_p.G5G	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	5	Interaction with beta-actin.				protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		CATTTTTGGGTCAGGACTGGA	0.318																																						ENST00000276326.5																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(13-15)ggT>ggC		F-box protein 25							66.0	81.0	76.0					8																	363094		2203	4300	6503	SO:0001819	synonymous_variant	26260					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity	g.chr8:363094T>C	AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"""F-boxes /  ""other"""""	13596	protein-coding gene	gene with protein product		609098	"""F-box only protein 25"""			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.15T>C	8.37:g.363094T>C						FBXO25_ENST00000352684.2_5'UTR|FBXO25_ENST00000350302.3_Silent_p.G5G|FBXO25_ENST00000382824.1_5'UTR	p.G5G	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)	2	134	+		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)	5			Interaction with beta-actin.		Q6PJ83|Q7Z4V4|Q9UKB8	Silent	SNP	ENST00000276326.5	37	c.15T>C	CCDS5953.1																																																																																				0.318	FBXO25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206710.2	NM_012173		20	92	0	0	0	1	0	20	92				
RAD21	5885	broad.mit.edu	37	8	117861266	117861266	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:117861266A>G	ENST00000297338.2	-	13	1910	c.1623T>C	c.(1621-1623)gaT>gaC	p.D541D	RAD21_ENST00000517749.1_5'UTR|RAD21_ENST00000523986.1_Silent_p.D45D|UTP23_ENST00000517820.1_3'UTR|UTP23_ENST00000520733.1_Missense_Mutation_p.H62R|RAD21_ENST00000518055.1_Silent_p.D86D	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	541					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					ATGCATCTTCATCCTGAATAA	0.408																																						ENST00000520733.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						c.(184-186)cAt>cGt		UTP23, small subunit (SSU) processome component, homolog (yeast)							174.0	171.0	172.0					8																	117861266		2203	4300	6503	SO:0001819	synonymous_variant	84294				rRNA processing	nucleolus		g.chr8:117861266A>G	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1623T>C	8.37:g.117861266A>G						UTP23_ENST00000517820.1_3'UTR|RAD21_ENST00000297338.2_Silent_p.D541D|RAD21_ENST00000523986.1_Silent_p.D45D|RAD21_ENST00000517749.1_5'UTR|RAD21_ENST00000518055.1_Silent_p.D86D	p.H62R			Q9BRU9	UTP23_HUMAN			2	317	+			0					A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.185A>G	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.824838	0.32237	.	.	ENSG00000147679	ENST00000520733	.	.	.	5.52	-1.88	0.07713	.	.	.	.	.	T	0.59280	0.2182	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62234	-0.6897	5	0.87932	D	0	-16.8928	6.8118	0.23809	0.2117:0.2765:0.0:0.5118	.	.	.	.	R	62	.	ENSP00000429384:H62R	H	+	2	0	UTP23	117930447	0.232000	0.23762	1.000000	0.80357	0.996000	0.88848	-0.293000	0.08320	0.065000	0.16485	0.533000	0.62120	CAT		0.408	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		40	168	0	0	0	1	0	40	168				
CHRAC1	54108	broad.mit.edu	37	8	141525311	141525311	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:141525311G>C	ENST00000220913.5	+	3	563	c.361G>C	c.(361-363)Gat>Cat	p.D121H	CHRAC1_ENST00000519533.1_3'UTR	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	121					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)	CHRAC (GO:0008623)|epsilon DNA polymerase complex (GO:0008622)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			GAATGACAATGATAATGAAAG	0.383																																						ENST00000220913.5																			0				ovary(2)	2						c.(361-363)Gat>Cat		chromatin accessibility complex 1							117.0	112.0	114.0					8																	141525311		2203	4300	6503	SO:0001583	missense	54108				chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding	g.chr8:141525311G>C	AF226076	CCDS6379.1	8q24.3	2008-08-07				ENSG00000104472			13544	protein-coding gene	gene with protein product	"""histone-fold protein CHRAC15"""	607268				10880450, 11000277	Standard	NM_017444		Approved	CHRAC15, YCL1	uc003yvl.3	Q9NRG0		ENST00000220913.5:c.361G>C	8.37:g.141525311G>C	ENSP00000220913:p.Asp121His					CHRAC1_ENST00000519533.1_3'UTR	p.D121H	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.107)		3	563	+	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		121						Missense_Mutation	SNP	ENST00000220913.5	37	c.361G>C	CCDS6379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.66|12.66	2.004967|2.004967	0.35415|0.35415	.|.	.|.	ENSG00000104472|ENSG00000104472	ENST00000220913|ENST00000519618	T|.	0.34859|.	1.34|.	4.16|4.16	-0.753|-0.753	0.11068|0.11068	.|.	0.533626|.	0.16770|.	N|.	0.200249|.	T|T	0.24699|0.24699	0.0599|0.0599	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999998|0.999998	B|.	0.34015|.	0.435|.	B|.	0.29440|.	0.102|.	T|T	0.21518|0.21518	-1.0243|-1.0243	10|5	0.45353|.	T|.	0.12|.	-1.5442|-1.5442	14.751|14.751	0.69525|0.69525	0.1142:0.0:0.8858:0.0|0.1142:0.0:0.8858:0.0	.|.	121|.	Q9NRG0|.	CHRC1_HUMAN|.	H|I	121|86	ENSP00000220913:D121H|.	ENSP00000220913:D121H|.	D|M	+|+	1|3	0|0	CHRAC1|CHRAC1	141594493|141594493	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.248000|0.248000	0.25809|0.25809	0.681000|0.681000	0.25320|0.25320	-0.048000|-0.048000	0.13401|0.13401	0.563000|0.563000	0.77884|0.77884	GAT|ATG		0.383	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377816.1	NM_017444		42	91	0	0	0	1	0	42	91				
HERC1	8925	broad.mit.edu	37	15	63904622	63904622	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:63904622C>T	ENST00000443617.2	-	77	14315	c.14228G>A	c.(14227-14229)cGg>cAg	p.R4743Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4743	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTCACGGTACCGCACCACTTT	0.552																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(14227-14229)cGg>cAg		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							160.0	157.0	158.0					15																	63904622		2162	4255	6417	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63904622C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.14228G>A	15.37:g.63904622C>T	ENSP00000390158:p.Arg4743Gln						p.R4743Q	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			77	14315	-			4743			HECT.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.14228G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	33	5.280402	0.95489	.	.	ENSG00000103657	ENST00000443617	T	0.58506	0.33	5.62	4.7	0.59300	HECT (4);	0.000000	0.64402	D	0.000001	T	0.59636	0.2208	L	0.43701	1.375	0.80722	D	1	D	0.56035	0.974	P	0.49012	0.598	T	0.64563	-0.6378	10	0.66056	D	0.02	.	16.6728	0.85271	0.0:0.8704:0.1296:0.0	.	4743	Q15751	HERC1_HUMAN	Q	4743	ENSP00000390158:R4743Q	ENSP00000390158:R4743Q	R	-	2	0	HERC1	61691675	1.000000	0.71417	0.979000	0.43373	0.963000	0.63663	7.818000	0.86416	1.362000	0.46000	0.650000	0.86243	CGG		0.552	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		12	85	0	0	0	1	0	12	85				
ATP2A1	487	broad.mit.edu	37	16	28890060	28890060	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:28890060G>A	ENST00000357084.3	+	1	335	c.68G>A	c.(67-69)gGc>gAc	p.G23D	ATP2A1_ENST00000395503.4_Missense_Mutation_p.G23D|SNORA43_ENST00000516652.1_RNA|RP11-22P6.3_ENST00000561547.1_RNA|ATP2A1_ENST00000536376.1_5'Flank|RP11-22P6.3_ENST00000566956.1_RNA	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	23					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GAGACCACGGGCCTCACCCCG	0.582																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(67-69)gGc>gAc		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							79.0	64.0	69.0					16																	28890060		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28890060G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.68G>A	16.37:g.28890060G>A	ENSP00000349595:p.Gly23Asp					ATP2A1_ENST00000357084.3_Missense_Mutation_p.G23D	p.G23D	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			1	252	+			23					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.68G>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859949	0.91433	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498	D;D	0.99663	-6.33;-6.33	4.54	4.54	0.55810	ATPase, P-type cation-transporter, N-terminal (2);ATPase,  P-type, cytoplasmic transduction domain A (1);	1.684430	0.05251	N	0.514028	D	0.99898	0.9951	H	0.99966	5.095	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.991	D	0.99826	1.1050	10	0.87932	D	0	.	16.4507	0.83990	0.0:0.0:1.0:0.0	.	23;23	O14983;O14983-2	AT2A1_HUMAN;.	D	23;23;60	ENSP00000349595:G23D;ENSP00000378879:G23D	ENSP00000349595:G23D	G	+	2	0	ATP2A1	28797561	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.885000	0.92439	2.260000	0.74910	0.561000	0.74099	GGC		0.582	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		8	30	0	0	0	1	0	8	30				
ST6GAL1	6480	broad.mit.edu	37	3	186761056	186761056	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:186761056T>C	ENST00000169298.3	+	4	1239	c.565T>C	c.(565-567)Tca>Cca	p.S189P	ST6GAL1_ENST00000448044.1_Missense_Mutation_p.S189P|ST6GAL1_ENST00000457772.2_Intron	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	189					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		TGTTGTGTCGTCAGCGGGATC	0.522																																						ENST00000169298.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(565-567)Tca>Cca		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							136.0	121.0	126.0					3																	186761056		2203	4300	6503	SO:0001583	missense	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186761056T>C	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.565T>C	3.37:g.186761056T>C	ENSP00000169298:p.Ser189Pro					ST6GAL1_ENST00000448044.1_Missense_Mutation_p.S189P|ST6GAL1_ENST00000457772.2_Intron	p.S189P	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	4	1239	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		189					A8KA14|B2R513|D3DNV3	Missense_Mutation	SNP	ENST00000169298.3	37	c.565T>C	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	T	19.13	3.767456	0.69878	.	.	ENSG00000073849	ENST00000169298;ENST00000448044	T;T	0.34859	1.34;1.34	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.68384	0.2995	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76838	-0.2811	10	0.87932	D	0	-27.893	12.4556	0.55702	0.0:0.0:0.0:1.0	.	189	P15907	SIAT1_HUMAN	P	189	ENSP00000169298:S189P;ENSP00000389337:S189P	ENSP00000169298:S189P	S	+	1	0	ST6GAL1	188243750	0.955000	0.32602	0.834000	0.33040	0.648000	0.38561	3.479000	0.53165	2.254000	0.74563	0.533000	0.62120	TCA		0.522	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		33	142	0	0	0	1	0	33	142				
SNX29	92017	broad.mit.edu	37	16	12662375	12662375	+	Silent	SNP	G	G	A	rs200226941		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:12662375G>A	ENST00000566228.1	+	21	2400	c.2331G>A	c.(2329-2331)ccG>ccA	p.P777P	CTD-3037G24.3_ENST00000564505.1_RNA|SNX29_ENST00000306030.3_Silent_p.P392P	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	777	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ACATCACCCCGCCCGGAGAGC	0.637																																						ENST00000566228.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(2329-2331)ccG>ccA		sorting nexin 29		G		1,3985		0,1,1992	42.0	51.0	48.0		1176	-2.3	0.6	16		48	2,8378		0,2,4188	no	coding-synonymous	SNX29	NM_001080530.2		0,3,6180	AA,AG,GG		0.0239,0.0251,0.0243		392/429	12662375	3,12363	1993	4190	6183	SO:0001819	synonymous_variant	92017				cell communication		phosphatidylinositol binding	g.chr16:12662375G>A	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.2331G>A	16.37:g.12662375G>A						CTD-3037G24.3_ENST00000564505.1_RNA|SNX29_ENST00000306030.3_Silent_p.P392P	p.P777P	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			21	2400	+			392					B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	37	c.2331G>A	CCDS10553.2																																																																																				0.637	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			25	62	0	0	0	1	0	25	62				
SLC41A3	54946	broad.mit.edu	37	3	125741708	125741708	+	Silent	SNP	C	C	T	rs570915728		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:125741708C>T	ENST00000315891.6	-	6	904	c.666G>A	c.(664-666)acG>acA	p.T222T	SLC41A3_ENST00000383598.2_Silent_p.T196T|SLC41A3_ENST00000508835.1_Silent_p.T105T|SLC41A3_ENST00000514023.1_5'Flank|SLC41A3_ENST00000346785.5_Silent_p.T186T|SLC41A3_ENST00000360370.4_Silent_p.T222T	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CTGCAATGGGCGTGGCAATGT	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		19994	0.0		0.0	False		,,,				2504	0.001					ENST00000383598.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(586-588)acG>acA		solute carrier family 41, member 3							199.0	192.0	195.0					3																	125741708		2203	4300	6503	SO:0001819	synonymous_variant	54946					integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr3:125741708C>T		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.666G>A	3.37:g.125741708C>T						SLC41A3_ENST00000508835.1_Silent_p.T105T|SLC41A3_ENST00000360370.4_Silent_p.T222T|SLC41A3_ENST00000346785.5_Silent_p.T186T|SLC41A3_ENST00000315891.6_Silent_p.T222T	p.T196T	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN		GBM - Glioblastoma multiforme(114;0.167)	5	873	-			222					A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Silent	SNP	ENST00000315891.6	37	c.588G>A	CCDS33843.1																																																																																				0.507	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836		74	188	0	0	0	1	0	74	188				
SRRM4	84530	broad.mit.edu	37	12	119594436	119594436	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:119594436C>T	ENST00000267260.4	+	13	2057	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	557	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						gagtcggagccggagccggag	0.731																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(1669-1671)Cgg>Tgg		serine/arginine repetitive matrix 4							6.0	9.0	8.0					12																	119594436		1962	4135	6097	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119594436C>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1669C>T	12.37:g.119594436C>T	ENSP00000267260:p.Arg557Trp						p.R557W	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			13	2057	+			557			Arg-rich.|Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.1669C>T	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	6.504	0.461233	0.12342	.	.	ENSG00000139767	ENST00000267260	T	0.33216	1.42	5.07	3.13	0.36017	.	0.073907	0.53938	D	0.000042	T	0.14743	0.0356	N	0.08118	0	0.09310	N	1	D	0.59767	0.986	B	0.43052	0.406	T	0.08371	-1.0725	9	.	.	.	-1.8388	8.42	0.32694	0.174:0.6578:0.1681:0.0	.	557	A7MD48	SRRM4_HUMAN	W	557	ENSP00000267260:R557W	.	R	+	1	2	SRRM4	118078819	0.999000	0.42202	0.005000	0.12908	0.065000	0.16274	2.989000	0.49393	1.123000	0.41961	0.650000	0.86243	CGG		0.731	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		10	16	0	0	0	1	0	10	16				
ITGAD	3681	broad.mit.edu	37	16	31435825	31435825	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:31435825C>T	ENST00000389202.2	+	29	3348	c.3299C>T	c.(3298-3300)gCc>gTc	p.A1100V		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1100					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTCTACAATGCCATTCCCATC	0.512																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(3298-3300)gCc>gTc		integrin, alpha D							115.0	96.0	102.0					16																	31435825		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31435825C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.3299C>T	16.37:g.31435825C>T	ENSP00000373854:p.Ala1100Val						p.A1100V	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			29	3348	+			1100					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.3299C>T	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841614	0.51057	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.42900	0.96	5.26	5.26	0.73747	.	.	.	.	.	T	0.33059	0.0850	N	0.22421	0.69	0.09310	N	1	B;B	0.25312	0.123;0.07	B;B	0.24394	0.053;0.053	T	0.28202	-1.0051	9	0.62326	D	0.03	.	14.372	0.66846	0.0:1.0:0.0:0.0	.	1116;1100	Q59H14;Q13349	.;ITAD_HUMAN	V	1116;1100	ENSP00000373854:A1100V	ENSP00000373854:A1100V	A	+	2	0	ITGAD	31343326	0.001000	0.12720	0.028000	0.17463	0.006000	0.05464	0.741000	0.26202	2.463000	0.83235	0.563000	0.77884	GCC		0.512	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		27	85	0	0	0	1	0	27	85				
LHX9	56956	broad.mit.edu	37	1	197896780	197896780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:197896780C>T	ENST00000367387.4	+	4	1218	c.793C>T	c.(793-795)Cag>Tag	p.Q265*	LHX9_ENST00000561173.1_Nonsense_Mutation_p.Q271*|LHX9_ENST00000337020.2_Nonsense_Mutation_p.Q265*|LHX9_ENST00000367391.1_Nonsense_Mutation_p.Q256*|LHX9_ENST00000367390.3_Nonsense_Mutation_p.Q256*	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	265					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TCCACCCTCGCAGAAGACCAA	0.512																																						ENST00000367390.3																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(766-768)Cag>Tag		LIM homeobox 9							276.0	272.0	273.0					1																	197896780		2203	4300	6503	SO:0001587	stop_gained	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197896780C>T	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.793C>T	1.37:g.197896780C>T	ENSP00000356357:p.Gln265*					LHX9_ENST00000367391.1_Nonsense_Mutation_p.Q256*|LHX9_ENST00000337020.2_Nonsense_Mutation_p.Q265*|LHX9_ENST00000561173.1_Nonsense_Mutation_p.Q271*|LHX9_ENST00000367387.4_Nonsense_Mutation_p.Q265*	p.Q256*	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN			5	793	+			265					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Nonsense_Mutation	SNP	ENST00000367387.4	37	c.766C>T	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	C	39	7.782361	0.98486	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	.	.	.	X	256;256;265;265	.	ENSP00000337969:Q265X	Q	+	1	0	LHX9	196163403	1.000000	0.71417	0.970000	0.41538	0.625000	0.37756	7.487000	0.81328	2.774000	0.95407	0.655000	0.94253	CAG		0.512	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		7	402	0	0	0	1	0	7	402				
CANX	821	broad.mit.edu	37	5	179132782	179132782	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:179132782G>A	ENST00000247461.4	+	2	300	c.100G>A	c.(100-102)Gac>Aac	p.D34N	CANX_ENST00000512607.2_5'UTR|CANX_ENST00000415618.2_Missense_Mutation_p.D69N|CANX_ENST00000452673.2_Missense_Mutation_p.D34N|CANX_ENST00000504734.1_Missense_Mutation_p.D34N	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	34					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	tattgaggatgaccttgacga	0.428																																						ENST00000247461.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22						c.(100-102)Gac>Aac		calnexin	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						480.0	386.0	418.0					5																	179132782		2203	4300	6503	SO:0001583	missense	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179132782G>A	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.100G>A	5.37:g.179132782G>A	ENSP00000247461:p.Asp34Asn					CANX_ENST00000415618.2_Missense_Mutation_p.D69N|CANX_ENST00000452673.2_Missense_Mutation_p.D34N|CANX_ENST00000512607.2_5'UTR|CANX_ENST00000504734.1_Missense_Mutation_p.D34N	p.D34N	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	300	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	34					B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	ENST00000247461.4	37	c.100G>A	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176551	0.78564	.	.	ENSG00000127022	ENST00000514383;ENST00000502296;ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000502498;ENST00000507307;ENST00000502673;ENST00000513246;ENST00000354394;ENST00000376953	T;T;T;T;D;T	0.83992	0.64;0.62;0.64;0.64;-1.79;-0.42	4.57	3.68	0.42216	.	0.097095	0.64402	D	0.000001	D	0.87621	0.6223	M	0.77103	2.36	0.80722	D	1	P;D;P	0.63046	0.895;0.992;0.808	P;P;B	0.59643	0.452;0.861;0.307	D	0.85931	0.1452	10	0.33940	T	0.23	-24.5978	10.0223	0.42051	0.0:0.0:0.7983:0.2017	.	69;34;34	B4DGP8;Q6ZP56;P27824	.;.;CALX_HUMAN	N	34;34;34;69;34;34;34;34;34;34;26;34	ENSP00000424063:D34N;ENSP00000394817:D69N;ENSP00000391646:D34N;ENSP00000247461:D34N;ENSP00000425246:D34N;ENSP00000421107:D34N	ENSP00000247461:D34N	D	+	1	0	CANX	179065388	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.892000	0.69790	1.244000	0.43870	0.561000	0.74099	GAC		0.428	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		77	245	0	0	0	1	0	77	245				
TLN1	7094	broad.mit.edu	37	9	35720085	35720085	+	Missense_Mutation	SNP	T	T	C	rs144393265		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35720085T>C	ENST00000314888.9	-	13	1768	c.1415A>G	c.(1414-1416)cAg>cGg	p.Q472R	TLN1_ENST00000540444.1_Missense_Mutation_p.Q472R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	472					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AATCTGCTGCTGGGCAGGGGG	0.627													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18575	0.0		0.0	False		,,,				2504	0.0					ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(1414-1416)cAg>cGg		talin 1		T	ARG/GLN	6,4400	12.9+/-30.5	0,6,2197	58.0	57.0	57.0		1415	5.8	1.0	9	dbSNP_134	57	0,8600		0,0,4300	yes	missense	TLN1	NM_006289.3	43	0,6,6497	CC,CT,TT		0.0,0.1362,0.0461	possibly-damaging	472/2542	35720085	6,13000	2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35720085T>C	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.1415A>G	9.37:g.35720085T>C	ENSP00000316029:p.Gln472Arg					TLN1_ENST00000540444.1_Missense_Mutation_p.Q472R	p.Q472R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		13	1768	-	all_epithelial(49;0.167)		472					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.1415A>G	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.378206	0.82682	0.001362	0.0	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70516	-0.48;-0.49	5.83	5.83	0.93111	.	0.053943	0.85682	D	0.000000	T	0.79064	0.4383	M	0.79123	2.44	0.54753	D	0.999988	P	0.45428	0.858	P	0.49597	0.616	T	0.80395	-0.1400	10	0.48119	T	0.1	-14.9687	16.1968	0.82036	0.0:0.0:0.0:1.0	.	472	Q9Y490	TLN1_HUMAN	R	472	ENSP00000316029:Q472R;ENSP00000442981:Q472R	ENSP00000316029:Q472R	Q	-	2	0	TLN1	35710085	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.225000	0.72522	0.533000	0.62120	CAG		0.627	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		27	68	0	0	0	1	0	27	68				
ARHGAP32	9743	broad.mit.edu	37	11	128838881	128838881	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:128838881G>A	ENST00000310343.9	-	22	6184	c.6185C>T	c.(6184-6186)gCt>gTt	p.A2062V	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.A1713V|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.A1713V|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2062	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CAACGCTGTAGCATAGGTCCT	0.592																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(6184-6186)gCt>gTt		Rho GTPase activating protein 32							39.0	34.0	36.0					11																	128838881		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128838881G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.6185C>T	11.37:g.128838881G>A	ENSP00000310561:p.Ala2062Val					ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.A1713V|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.A1713V	p.A2062V	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	6184	-			2062			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.6185C>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408001	0.62399	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.13089	2.65;2.62;2.62	5.56	4.66	0.58398	.	0.060516	0.64402	D	0.000003	T	0.15305	0.0369	L	0.59436	1.845	0.42806	D	0.993943	B	0.32829	0.386	B	0.24269	0.052	T	0.02546	-1.1143	10	0.87932	D	0	.	14.431	0.67251	0.0708:0.0:0.9292:0.0	.	2062	A7KAX9	RHG32_HUMAN	V	2062;1713;1713	ENSP00000310561:A2062V;ENSP00000376425:A1713V;ENSP00000432862:A1713V	ENSP00000310561:A2062V	A	-	2	0	ARHGAP32	128344091	1.000000	0.71417	0.074000	0.20217	0.565000	0.35776	9.392000	0.97252	1.371000	0.46172	0.650000	0.86243	GCT		0.592	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		3	24	0	0	0	1	0	3	24				
PRNP	5621	broad.mit.edu	37	20	4680489	4680489	+	Missense_Mutation	SNP	G	G	A	rs74315412		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:4680489G>A	ENST00000379440.4	+	2	910	c.623G>A	c.(622-624)cGc>cAc	p.R208H	PRNP_ENST00000430350.2_Missense_Mutation_p.R208H	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						ATGATGGAGCGCGTGGTTGAG	0.527													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21965	0.0		0.0	False		,,,				2504	0.0					ENST00000379440.4																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14	GRCh37	CM961149	PRNP	M	rs74315412	c.(622-624)cGc>cAc		prion protein	Tetracycline(DB00759)	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	167.0	142.0	150.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	623,623,623,623,623	5.4	1.0	20	dbSNP_131	150	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	PRNP	NM_000311.3,NM_001080121.1,NM_001080122.1,NM_001080123.1,NM_183079.2	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	208/254,208/254,208/254,208/254,208/254	4680489	1,13005	2203	4300	6503	SO:0001583	missense	5621				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	g.chr20:4680489G>A	M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.623G>A	20.37:g.4680489G>A	ENSP00000368752:p.Arg208His					PRNP_ENST00000430350.2_Missense_Mutation_p.R208H	p.R208H	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN			2	910	+			208		R -> H (in CJD).	Interaction with GRB2, ERI3 and SYN1 (By similarity).			Missense_Mutation	SNP	ENST00000379440.4	37	c.623G>A	CCDS13080.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102956	0.76983	2.27E-4	0.0	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805;ENST00000457586	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.39	5.39	0.77823	Prion/Doppel protein, beta-ribbon domain (4);	0.181349	0.38272	N	0.001758	D	0.94981	0.8376	M	0.77820	2.39	0.42635	A	0.993395	D;D;D	0.89917	1.0;0.988;1.0	D;P;D	0.83275	0.996;0.843;0.987	D	0.95612	0.8673	9	0.87932	D	0	-21.8135	14.649	0.68784	0.0:0.0:1.0:0.0	.	208;208;240	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	H	208;208;208;147;208	ENSP00000368752:R208H;ENSP00000399376:R208H;ENSP00000411599:R208H;ENSP00000415284:R208H	ENSP00000368752:R208H	R	+	2	0	PRNP	4628489	0.988000	0.35896	0.955000	0.39395	0.786000	0.44442	2.221000	0.42917	2.538000	0.85594	0.655000	0.94253	CGC		0.527	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		13	64	0	0	0	1	0	13	64				
BAI3	577	broad.mit.edu	37	6	70071052	70071052	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:70071052T>C	ENST00000370598.1	+	29	4708	c.3887T>C	c.(3886-3888)aTa>aCa	p.I1296T	BAI3_ENST00000238918.8_Missense_Mutation_p.I502T|BAI3_ENST00000546190.1_Missense_Mutation_p.I260T	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1296					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GACATGGACATAGTCCATCCT	0.368																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(3886-3888)aTa>aCa		brain-specific angiogenesis inhibitor 3							74.0	72.0	73.0					6																	70071052		2203	4297	6500	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70071052T>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3887T>C	6.37:g.70071052T>C	ENSP00000359630:p.Ile1296Thr					BAI3_ENST00000238918.8_Missense_Mutation_p.I502T|BAI3_ENST00000546190.1_Missense_Mutation_p.I260T	p.I1296T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			29	4708	+		all_lung(197;0.212)	1296					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3887T>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.934101	0.34096	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.06528	3.29;3.29;3.29	5.44	5.44	0.79542	.	0.085392	0.85682	D	0.000000	T	0.02304	0.0071	N	0.19112	0.55	0.35031	D	0.758818	B;B	0.19817	0.039;0.007	B;B	0.14023	0.01;0.008	T	0.41980	-0.9478	10	0.46703	T	0.11	.	15.7958	0.78409	0.0:0.0:0.0:1.0	.	502;1296	B7Z356;O60242	.;BAI3_HUMAN	T	1296;502;260	ENSP00000359630:I1296T;ENSP00000238918:I502T;ENSP00000441821:I260T	ENSP00000238918:I502T	I	+	2	0	BAI3	70127773	1.000000	0.71417	0.988000	0.46212	0.669000	0.39330	5.689000	0.68234	2.198000	0.70561	0.482000	0.46254	ATA		0.368	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			13	54	0	0	0	1	0	13	54				
DDX21	9188	broad.mit.edu	37	10	70719971	70719971	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:70719971C>T	ENST00000354185.4	+	2	595	c.497C>T	c.(496-498)gCt>gTt	p.A166V		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	166					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CCCAGTGAAGCTGCCAGTGAA	0.393																																						ENST00000354185.4																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(496-498)gCt>gTt		DEAD (Asp-Glu-Ala-Asp) box helicase 21							61.0	67.0	65.0					10																	70719971		2201	4299	6500	SO:0001583	missense	9188					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr10:70719971C>T	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.497C>T	10.37:g.70719971C>T	ENSP00000346120:p.Ala166Val						p.A166V	NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN			2	595	+			166					B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	ENST00000354185.4	37	c.497C>T	CCDS31211.1	.	.	.	.	.	.	.	.	.	.	C	7.832	0.720002	0.15372	.	.	ENSG00000165732	ENST00000354185	T	0.48201	0.82	5.57	4.66	0.58398	.	6.291370	0.00166	N	0.000002	T	0.49081	0.1536	L	0.51422	1.61	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.37865	-0.9687	10	0.29301	T	0.29	-21.1122	12.2588	0.54638	0.0:0.9212:0.0:0.0788	.	166	Q9NR30	DDX21_HUMAN	V	166	ENSP00000346120:A166V	ENSP00000346120:A166V	A	+	2	0	DDX21	70389977	0.557000	0.26546	0.020000	0.16555	0.316000	0.28119	1.391000	0.34475	1.482000	0.48325	0.650000	0.86243	GCT		0.393	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728		8	97	0	0	0	1	0	8	97				
GAS7	8522	broad.mit.edu	37	17	10101649	10101649	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:10101649C>T	ENST00000432992.2	-	1	219	c.59G>A	c.(58-60)gGg>gAg	p.G20E	GAS7_ENST00000540214.1_5'UTR	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	20	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GAAGCGCAGCCCCTGGCCGTG	0.736			T	MLL	AML*																																	ENST00000432992.2				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(58-60)gGg>gAg		growth arrest-specific 7							14.0	16.0	15.0					17																	10101649		2164	4257	6421	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:10101649C>T	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.59G>A	17.37:g.10101649C>T	ENSP00000407552:p.Gly20Glu					GAS7_ENST00000540214.1_5'UTR	p.G20E	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN			1	219	-			20			SH3.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.59G>A	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888937	0.91814	.	.	ENSG00000007237	ENST00000323816	.	.	.	3.41	3.41	0.39046	Src homology-3 domain (4);	0.576537	0.13111	N	0.412993	T	0.20210	0.0486	N	0.00057	-2.355	0.80722	D	1	D	0.62365	0.991	D	0.65773	0.938	T	0.44143	-0.9347	8	.	.	.	.	12.3525	0.55157	0.0:1.0:0.0:0.0	.	20	O60861	GAS7_HUMAN	E	20	.	.	G	-	2	0	GAS7	10042374	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.692000	0.54727	1.756000	0.51951	0.455000	0.32223	GGG		0.736	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		5	43	0	0	0	1	0	5	43				
APITD1	378708	broad.mit.edu	37	1	10500429	10500429	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:10500429A>G	ENST00000309048.3	+	4	310	c.235A>G	c.(235-237)Act>Gct	p.T79A	APITD1-CORT_ENST00000400900.2_Missense_Mutation_p.T79A|APITD1_ENST00000602787.1_Missense_Mutation_p.T79A|APITD1_ENST00000602296.1_Intron|APITD1_ENST00000462462.1_3'UTR|APITD1-CORT_ENST00000470413.2_Intron|APITD1-CORT_ENST00000465026.1_3'UTR	NM_001270517.1|NM_199294.2	NP_001257446.1|NP_954988.1	Q8N2Z9	CENPS_HUMAN	apoptosis-inducing, TAF9-like domain 1	79					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of protein ubiquitination (GO:0031398)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	cytosol (GO:0005829)|FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|kinetochore (GO:0000776)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|lung(1)|ovary(1)|stomach(1)	4	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		CACAATTAACACTGAAGATGT	0.403																																						ENST00000602787.1																			0				kidney(1)|lung(1)|ovary(1)|stomach(1)	4						c.(235-237)Act>Gct		apoptosis-inducing, TAF9-like domain 1							111.0	98.0	103.0					1																	10500429		2203	4300	6503	SO:0001583	missense	378708							g.chr1:10500429A>G	BC029430	CCDS114.1, CCDS115.1	1p36.22	2013-11-05			ENSG00000175279	ENSG00000175279			23163	protein-coding gene	gene with protein product	"""centromere protein S"""	609130				15328517, 16622420, 16622419	Standard	NR_036462		Approved	CENPS, CENP-S, MHF1, FAAP16		Q8N2Z9	OTTHUMG00000059085	ENST00000309048.3:c.235A>G	1.37:g.10500429A>G	ENSP00000308583:p.Thr79Ala					APITD1_ENST00000462462.1_3'UTR|APITD1-CORT_ENST00000465026.1_3'UTR|APITD1-CORT_ENST00000400900.2_Missense_Mutation_p.T79A|APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000309048.3_Missense_Mutation_p.T79A|APITD1_ENST00000602296.1_Intron	p.T79A	NM_198544.3	NP_940946.1				UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.31e-07)|COAD - Colon adenocarcinoma(227;7.32e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	4	651	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)						Q8NFE5|Q8NFG5	Missense_Mutation	SNP	ENST00000309048.3	37	c.235A>G	CCDS115.1	.	.	.	.	.	.	.	.	.	.	A	13.19	2.161745	0.38119	.	.	ENSG00000175279;ENSG00000175279;ENSG00000251503	ENST00000556104;ENST00000309048;ENST00000400900	.	.	.	5.78	3.46	0.39613	Histone-fold (2);	0.521010	0.23090	N	0.052056	T	0.42675	0.1213	L	0.39514	1.22	0.80722	D	1	B;B	0.30236	0.274;0.097	B;B	0.31751	0.135;0.084	T	0.10941	-1.0608	9	0.08381	T	0.77	-10.0085	8.2139	0.31499	0.768:0.0:0.232:0.0	.	79;79	Q8N2Z9-2;Q8N2Z9	.;CENPS_HUMAN	A	79	.	ENSP00000383692:T79A	T	+	1	0	APITD1-CORT;APITD1	10423016	0.327000	0.24678	0.974000	0.42286	0.998000	0.95712	0.475000	0.22164	0.466000	0.27193	0.460000	0.39030	ACT		0.403	APITD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130797.2	NM_199294		10	33	0	0	0	1	0	10	33				
KDM2B	84678	broad.mit.edu	37	12	121986850	121986850	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:121986850C>T	ENST00000377071.4	-	6	687	c.615G>A	c.(613-615)caG>caA	p.Q205Q	KDM2B_ENST00000536437.1_Silent_p.Q88Q|KDM2B_ENST00000538046.2_Silent_p.Q205Q|KDM2B_ENST00000377069.4_Silent_p.Q174Q	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	205	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)	p.Q205Q(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCTTCAGATGCTGGGGCCACA	0.552																																						ENST00000377069.4																			1	Substitution - coding silent(1)	p.Q205Q(1)	breast(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(520-522)caG>caA		lysine (K)-specific demethylase 2B							143.0	153.0	150.0					12																	121986850		2061	4213	6274	SO:0001819	synonymous_variant	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121986850C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.615G>A	12.37:g.121986850C>T						KDM2B_ENST00000536437.1_Silent_p.Q88Q|KDM2B_ENST00000538046.2_Silent_p.Q205Q|KDM2B_ENST00000377071.4_Silent_p.Q205Q	p.Q174Q	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			6	928	-			205					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	c.522G>A	CCDS41850.1																																																																																				0.552	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		13	134	0	0	0	1	0	13	134				
CLSTN2	64084	broad.mit.edu	37	3	140282029	140282029	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:140282029C>T	ENST00000458420.3	+	15	2656	c.2466C>T	c.(2464-2466)agC>agT	p.S822S		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	822					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCCGGAGTAGCATCCAGCACA	0.502										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(2464-2466)agC>agT		calsyntenin 2							131.0	115.0	120.0					3																	140282029		2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140282029C>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2466C>T	3.37:g.140282029C>T		HNSCC(16;0.037)					p.S822S	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			15	2656	+			822					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.2466C>T	CCDS3112.1																																																																																				0.502	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		17	102	0	0	0	1	0	17	102				
SLC34A2	10568	broad.mit.edu	37	4	25678331	25678331	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:25678331T>A	ENST00000382051.3	+	13	2083	c.2033T>A	c.(2032-2034)gTc>gAc	p.V678D	SLC34A2_ENST00000504570.1_Missense_Mutation_p.V677D|SLC34A2_ENST00000503434.1_Missense_Mutation_p.V677D	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	678					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CAGGGTGAGGTCCCTGCCTCG	0.582			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(2032-2034)gTc>gAc		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							59.0	60.0	59.0					4																	25678331		2203	4300	6503	SO:0001583	missense	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678331T>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.2033T>A	4.37:g.25678331T>A	ENSP00000371483:p.Val678Asp					SLC34A2_ENST00000504570.1_Missense_Mutation_p.V677D|SLC34A2_ENST00000503434.1_Missense_Mutation_p.V677D	p.V678D	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	2083	+		Breast(46;0.0503)	678					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	37	c.2033T>A	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.146570	0.37923	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.25749	1.78;1.78;1.78	5.17	-6.94	0.01633	.	1.695120	0.02846	N	0.128537	T	0.17492	0.0420	L	0.47716	1.5	0.09310	N	1	B;B	0.25904	0.137;0.085	B;B	0.25140	0.058;0.026	T	0.20338	-1.0278	10	0.35671	T	0.21	-5.7702	1.462	0.02398	0.2381:0.3677:0.1962:0.198	.	677;678	O95436-2;O95436	.;NPT2B_HUMAN	D	677;678;677	ENSP00000425501:V677D;ENSP00000371483:V678D;ENSP00000423021:V677D	ENSP00000371483:V678D	V	+	2	0	SLC34A2	25287429	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-4.253000	0.00265	-0.735000	0.04837	0.454000	0.30748	GTC		0.582	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		13	62	0	0	0	1	0	13	62				
FAM216B	144809	broad.mit.edu	37	13	43358251	43358251	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:43358251A>T	ENST00000537894.1	+	2	171	c.48A>T	c.(46-48)caA>caT	p.Q16H	FAM216B_ENST00000313851.1_Missense_Mutation_p.Q16H	NM_182508.2	NP_872314.1	Q8N7L0	F216B_HUMAN	family with sequence similarity 216, member B	16																	ATGTTCCACAACTTCCTTTTA	0.348																																						ENST00000537894.1																			0											c.(46-48)caA>caT		family with sequence similarity 216, member B							131.0	132.0	132.0					13																	43358251		2203	4300	6503	SO:0001583	missense	144809							g.chr13:43358251A>T	AK098238	CCDS9386.1	13q14.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000179813	ENSG00000179813			26883	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 30"""	C13orf30			Standard	NM_182508		Approved	FLJ40919	uc010tfk.2	Q8N7L0	OTTHUMG00000016809	ENST00000537894.1:c.48A>T	13.37:g.43358251A>T	ENSP00000445786:p.Gln16His					FAM216B_ENST00000313851.1_Missense_Mutation_p.Q16H	p.Q16H	NM_182508.2	NP_872314.1	Q8N7L0	CM030_HUMAN			2	171	+			16					B1ALI3	Missense_Mutation	SNP	ENST00000537894.1	37	c.48A>T	CCDS9386.1	.	.	.	.	.	.	.	.	.	.	A	4.431	0.079758	0.08533	.	.	ENSG00000179813	ENST00000537894;ENST00000313851	T;T	0.54071	0.59;0.59	4.13	-2.07	0.07276	.	1.513800	0.04316	N	0.349779	T	0.36608	0.0973	N	0.25647	0.755	0.09310	N	0.999994	B	0.20261	0.043	B	0.15870	0.014	T	0.20874	-1.0262	10	0.45353	T	0.12	0.2315	4.6772	0.12717	0.1712:0.0:0.5016:0.3272	.	16	Q8N7L0	CM030_HUMAN	H	16	ENSP00000445786:Q16H;ENSP00000319336:Q16H	ENSP00000319336:Q16H	Q	+	3	2	C13orf30	42256251	0.146000	0.22672	0.553000	0.28255	0.104000	0.19210	-0.338000	0.07842	-0.437000	0.07243	-0.695000	0.03696	CAA		0.348	FAM216B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044705.2	NM_182508		24	61	0	0	0	1	0	24	61				
DAGLA	747	broad.mit.edu	37	11	61502471	61502471	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:61502471T>C	ENST00000257215.5	+	10	1241	c.1125T>C	c.(1123-1125)gaT>gaC	p.D375D		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	375					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCTGCCATGATGCGGTGAGGC	0.622																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(1123-1125)gaT>gaC		diacylglycerol lipase, alpha							160.0	157.0	158.0					11																	61502471		2202	4299	6501	SO:0001819	synonymous_variant	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61502471T>C	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1125T>C	11.37:g.61502471T>C							p.D375D	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	10	1241	+			375					A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	c.1125T>C	CCDS31578.1																																																																																				0.622	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		32	343	0	0	0	1	0	32	343				
MCMDC2	157777	broad.mit.edu	37	8	67808486	67808486	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:67808486T>C	ENST00000422365.2	+	11	1532	c.1361T>C	c.(1360-1362)gTt>gCt	p.V454A	MCMDC2_ENST00000313616.5_Missense_Mutation_p.V454A|MCMDC2_ENST00000541540.1_Missense_Mutation_p.V391A|MCMDC2_ENST00000396592.3_Missense_Mutation_p.V454A	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	454					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						ACTTTTCCAGTTCAGTGCAGT	0.388																																						ENST00000422365.2																			0				endometrium(2)|kidney(2)|lung(5)	9						c.(1360-1362)gTt>gCt		minichromosome maintenance domain containing 2							221.0	199.0	206.0					8																	67808486		2203	4300	6503	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67808486T>C	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1361T>C	8.37:g.67808486T>C	ENSP00000413632:p.Val454Ala					MCMDC2_ENST00000396592.3_Missense_Mutation_p.V454A|MCMDC2_ENST00000313616.5_Missense_Mutation_p.V454A|MCMDC2_ENST00000541540.1_Missense_Mutation_p.V391A	p.V454A	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN			11	1532	+			454					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.1361T>C	CCDS6197.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.3|20.3	3.967351|3.967351	0.74131|0.74131	.|.	.|.	ENSG00000178460|ENSG00000178460	ENST00000379356|ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540	.|T;T;T;T	.|0.30981	.|1.51;1.51;1.51;1.51	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.178492	.|0.48767	.|D	.|0.000172	.|T	.|0.29716	.|0.0742	L|L	0.50333|0.50333	1.59|1.59	0.48185|0.48185	D|D	0.999602|0.999602	.|P;P;P	.|0.39480	.|0.675;0.546;0.546	.|B;B;B	.|0.35182	.|0.197;0.097;0.097	.|T	.|0.03493	.|-1.1031	.|10	.|0.31617	.|T	.|0.26	.|-11.6187	16.5655|16.5655	0.84588|0.84588	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|391;454;454	.|Q4G0Z9-4;Q4G0Z9;B4DXX4	.|.;CH045_HUMAN;.	.|A	-1|454;454;454;391	.|ENSP00000379837:V454A;ENSP00000413632:V454A;ENSP00000317234:V454A;ENSP00000445629:V391A	.|ENSP00000317234:V454A	.|V	+|+	.|2	.|0	C8orf45|C8orf45	67971040|67971040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.407000|5.407000	0.66363|0.66363	2.302000|2.302000	0.77476|0.77476	0.533000|0.533000	0.62120|0.62120	.|GTT		0.388	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		5	165	0	0	0	1	0	5	165				
ATXN10	25814	broad.mit.edu	37	22	46239047	46239047	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:46239047A>G	ENST00000252934.5	+	11	1679	c.1414A>G	c.(1414-1416)Acc>Gcc	p.T472A	ATXN10_ENST00000381061.4_Missense_Mutation_p.T408A|ATXN10_ENST00000402380.3_Missense_Mutation_p.T123A	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	472					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TACTAGAGACACCCCTAAGCC	0.468																																						ENST00000252934.5																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10						c.(1414-1416)Acc>Gcc		ataxin 10							68.0	71.0	70.0					22																	46239047		2203	4300	6503	SO:0001583	missense	25814				cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm		g.chr22:46239047A>G	AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"""Ataxins"""	10549	protein-coding gene	gene with protein product		611150	"""spinocerebellar ataxia 10"""	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.1414A>G	22.37:g.46239047A>G	ENSP00000252934:p.Thr472Ala					ATXN10_ENST00000402380.3_Missense_Mutation_p.123_123insA|ATXN10_ENST00000381061.4_Missense_Mutation_p.408_408insA	p.472_472insA	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)	11	1679	+		Ovarian(80;0.00973)|all_neural(38;0.0417)	0					A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	ENST00000252934.5	37	c.1414A>G	CCDS14070.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.304607	0.23736	.	.	ENSG00000130638	ENST00000381061;ENST00000252934;ENST00000402380	.	.	.	4.9	-4.26	0.03755	.	1.548120	0.03463	N	0.212503	T	0.15522	0.0374	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19679	-1.0298	9	0.08599	T	0.76	4.4539	6.1565	0.20340	0.3335:0.2685:0.398:0.0	.	408;472	A6NLC4;Q9UBB4	.;ATX10_HUMAN	A	408;472;123	.	ENSP00000252934:T472A	T	+	1	0	ATXN10	44617711	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.175000	0.16762	-0.985000	0.03503	0.533000	0.62120	ACC		0.468	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	NM_013236		9	82	0	0	0	1	0	9	82				
LARP4B	23185	broad.mit.edu	37	10	860989	860989	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:860989C>T	ENST00000316157.3	-	15	1757	c.1717G>A	c.(1717-1719)Gtg>Atg	p.V573M	LARP4B_ENST00000469487.1_5'UTR	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	573					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AGGGTGTTCACGCTTGCGTCT	0.592																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(1717-1719)Gtg>Atg		La ribonucleoprotein domain family, member 4B							91.0	82.0	85.0					10																	860989		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:860989C>T	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1717G>A	10.37:g.860989C>T	ENSP00000326128:p.Val573Met					LARP4B_ENST00000469487.1_5'UTR	p.V573M	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			15	1757	-			573					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.1717G>A	CCDS31131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.417|8.417	0.845424|0.845424	0.16963|0.16963	.|.	.|.	ENSG00000107929|ENSG00000107929	ENST00000448368|ENST00000316157	.|T	.|0.32272	.|1.46	5.91|5.91	0.694|0.694	0.18062|0.18062	.|.	.|0.377805	.|0.35349	.|N	.|0.003278	T|T	0.17066|0.17066	0.0410|0.0410	L|L	0.27053|0.27053	0.805|0.805	0.22266|0.22266	N|N	0.99925|0.99925	.|B	.|0.26400	.|0.148	.|B	.|0.12156	.|0.007	T|T	0.12116|0.12116	-1.0560|-1.0560	5|10	.|0.51188	.|T	.|0.08	-6.1625|-6.1625	6.8552|6.8552	0.24036|0.24036	0.1211:0.1349:0.0:0.744|0.1211:0.1349:0.0:0.744	.|.	.|573	.|Q92615	.|LAR4B_HUMAN	H|M	138|573	.|ENSP00000326128:V573M	.|ENSP00000326128:V573M	R|V	-|-	2|1	0|0	LARP4B|LARP4B	850989|850989	1.000000|1.000000	0.71417|0.71417	0.004000|0.004000	0.12327|0.12327	0.000000|0.000000	0.00434|0.00434	0.937000|0.937000	0.28951|0.28951	-0.099000|-0.099000	0.12263|0.12263	-2.842000|-2.842000	0.00104|0.00104	CGT|GTG		0.592	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		27	76	0	0	0	1	0	27	76				
GAREM	64762	broad.mit.edu	37	18	29848107	29848107	+	Silent	SNP	C	C	T	rs150643395	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:29848107C>T	ENST00000269209.6	-	6	2361	c.2358G>A	c.(2356-2358)ccG>ccA	p.P786P	GAREM_ENST00000399218.4_Silent_p.P785P			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	786					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										GGAGATGGAGCGGAGATGAGA	0.547													c|||	3	0.000599042	0.0	0.0	5008	,	,		17956	0.0		0.003	False		,,,				2504	0.0					ENST00000399218.4																			0											c.(2353-2355)ccG>ccA		GRB2 associated, regulator of MAPK1		C	,	0,4406		0,0,2203	39.0	36.0	37.0		2358,2355	-10.4	0.0	18	dbSNP_134	37	24,8576	17.3+/-56.4	0,24,4276	no	coding-synonymous,coding-synonymous	FAM59A	NM_001242409.1,NM_022751.2	,	0,24,6479	TT,TC,CC		0.2791,0.0,0.1845	,	786/877,785/876	29848107	24,12982	2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29848107C>T	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.2358G>A	18.37:g.29848107C>T						GAREM_ENST00000269209.6_Silent_p.P786P	p.P785P	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					6	2410	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	c.2355G>A	CCDS56057.1																																																																																				0.547	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		14	43	0	0	0	1	0	14	43				
PLEKHG4	25894	broad.mit.edu	37	16	67319354	67319354	+	Missense_Mutation	SNP	G	G	A	rs150434910		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67319354G>A	ENST00000360461.5	+	13	4892	c.2357G>A	c.(2356-2358)cGg>cAg	p.R786Q	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.R786Q|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.R786Q|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.R705Q	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	786	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R786L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GAGAAGCTGCGGGACTTCCAC	0.632																																						ENST00000360461.5																			1	Substitution - Missense(1)	p.R786L(1)	lung(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2356-2358)cGg>cAg		pleckstrin homology domain containing, family G (with RhoGef domain) member 4		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4396		0,0,2198	78.0	84.0	82.0		2357,2357,2357,2114,2357	4.9	1.0	16	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	PLEKHG4	NM_001129727.1,NM_001129728.1,NM_001129729.1,NM_001129731.1,NM_015432.3	43,43,43,43,43	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	786/1192,786/1192,786/1192,705/1111,786/1192	67319354	1,12995	2198	4300	6498	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67319354G>A	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.2357G>A	16.37:g.67319354G>A	ENSP00000353646:p.Arg786Gln					PLEKHG4_ENST00000450733.1_Missense_Mutation_p.R705Q|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.R786Q|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.R786Q	p.R786Q	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	13	4892	+			786			DH.		Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.2357G>A	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049172	0.75846	0.0	1.16E-4	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.91	4.91	0.64330	Dbl homology (DH) domain (5);	0.288637	0.18938	N	0.127034	T	0.56934	0.2019	L	0.45228	1.405	0.21290	N	0.999738	D;D	0.55385	0.964;0.971	B;P	0.45639	0.356;0.488	T	0.55573	-0.8120	10	0.54805	T	0.06	.	10.6526	0.45657	0.099:0.0:0.901:0.0	.	705;786	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	Q	786;786;786;705	ENSP00000353646:R786Q;ENSP00000401118:R786Q;ENSP00000368649:R786Q;ENSP00000398030:R705Q	ENSP00000353646:R786Q	R	+	2	0	PLEKHG4	65876855	0.899000	0.30636	1.000000	0.80357	0.977000	0.68977	3.805000	0.55575	2.290000	0.77057	0.561000	0.74099	CGG		0.632	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		5	152	0	0	0	1	0	5	152				
RWDD2B	10069	broad.mit.edu	37	21	30380082	30380082	+	Splice_Site	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:30380082C>A	ENST00000493196.1	-	4	825	c.725G>T	c.(724-726)aGa>aTa	p.R242I	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	242										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						AAAAGCAAACCTTGACCAGAA	0.428																																						ENST00000493196.1																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						c.e4+1		RWD domain containing 2B							62.0	64.0	63.0					21																	30380082		2203	4300	6503	SO:0001630	splice_region_variant	10069							g.chr21:30380082C>A	AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.725+1G>T	21.37:g.30380082C>A						RWDD2B_ENST00000486719.1_5'UTR	p.R242_splice	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN			4	825	-			242						Splice_Site	SNP	ENST00000493196.1	37	c.725_splice	CCDS13582.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318270	0.95682	.	.	ENSG00000156253	ENST00000493196	.	.	.	5.65	5.65	0.86999	Domain of unknown function DUF1115 (1);	0.000000	0.85682	D	0.000000	D	0.85004	0.5598	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	0.975;1.0	P;D	0.97110	0.843;1.0	D	0.85409	0.1136	8	.	.	.	-19.7668	19.9142	0.97043	0.0:1.0:0.0:0.0	.	242;242	Q53FD2;P57060	.;RWD2B_HUMAN	I	242	.	.	R	-	2	0	RWDD2B	29301953	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.630000	0.83225	2.941000	0.99782	0.655000	0.94253	AGA		0.428	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1		Missense_Mutation	14	65	1	0	0.00400662	1	0.00403976	14	65				
OPA1	4976	broad.mit.edu	37	3	193377314	193377314	+	Missense_Mutation	SNP	G	G	C	rs201299811		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:193377314G>C	ENST00000392438.3	+	23	2553	c.2319G>C	c.(2317-2319)aaG>aaC	p.K773N	OPA1_ENST00000361150.2_Missense_Mutation_p.K774N|OPA1_ENST00000361715.2_Missense_Mutation_p.K792N|OPA1_ENST00000361510.2_Missense_Mutation_p.K828N|OPA1_ENST00000361828.2_Missense_Mutation_p.K791N|OPA1_ENST00000361908.3_Missense_Mutation_p.K810N	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	773					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		ACTGGAAAAAGAGGTGGTTAT	0.308																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2482-2484)aaG>aaC		optic atrophy 1 (autosomal dominant)							62.0	64.0	63.0					3																	193377314		2202	4300	6502	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193377314G>C	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2319G>C	3.37:g.193377314G>C	ENSP00000376233:p.Lys773Asn					OPA1_ENST00000361908.3_Missense_Mutation_p.K810N|OPA1_ENST00000361150.2_Missense_Mutation_p.K774N|OPA1_ENST00000392438.3_Missense_Mutation_p.K773N|OPA1_ENST00000361828.2_Missense_Mutation_p.K791N|OPA1_ENST00000361715.2_Missense_Mutation_p.K792N	p.K828N	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	25	2718	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		773					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.2484G>C	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.349986	0.41599	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61;-2.61	5.69	3.91	0.45181	.	0.095277	0.64402	D	0.000001	T	0.80549	0.4644	N	0.22421	0.69	0.46298	D	0.998978	B;B;B;B;B;B;B;B	0.29716	0.049;0.156;0.084;0.084;0.19;0.146;0.255;0.243	B;B;B;B;B;B;B;B	0.28465	0.063;0.037;0.063;0.063;0.05;0.063;0.037;0.09	T	0.75473	-0.3305	10	0.45353	T	0.12	-19.59	10.4858	0.44722	0.2149:0.0:0.7851:0.0	.	737;773;755;774;791;810;792;828	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	N	810;773;828;792;791;774	ENSP00000354681:K810N;ENSP00000376233:K773N;ENSP00000355324:K828N;ENSP00000355311:K792N;ENSP00000354429:K791N;ENSP00000354781:K774N	ENSP00000354781:K774N	K	+	3	2	OPA1	194860008	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.927000	0.40094	0.756000	0.33013	0.650000	0.86243	AAG		0.308	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		11	18	0	0	0	1	0	11	18				
NCOA1	8648	broad.mit.edu	37	2	24933863	24933863	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:24933863C>T	ENST00000406961.1	+	14	3134	c.2482C>T	c.(2482-2484)Cca>Tca	p.P828S	NCOA1_ENST00000288599.5_Missense_Mutation_p.P828S|NCOA1_ENST00000405141.1_Missense_Mutation_p.P828S|NCOA1_ENST00000348332.3_Missense_Mutation_p.P828S|NCOA1_ENST00000407230.1_Missense_Mutation_p.P677S|NCOA1_ENST00000395856.3_Missense_Mutation_p.P828S|NCOA1_ENST00000538539.1_Missense_Mutation_p.P828S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	828	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCACAGTTGCCAGGCTTATG	0.488			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(2482-2484)Cca>Tca		nuclear receptor coactivator 1							113.0	100.0	104.0					2																	24933863		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24933863C>T	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2482C>T	2.37:g.24933863C>T	ENSP00000385216:p.Pro828Ser					NCOA1_ENST00000348332.3_Missense_Mutation_p.P828S|NCOA1_ENST00000288599.5_Missense_Mutation_p.P828S|NCOA1_ENST00000538539.1_Missense_Mutation_p.P828S|NCOA1_ENST00000395856.3_Missense_Mutation_p.P828S|NCOA1_ENST00000407230.1_Missense_Mutation_p.P677S|NCOA1_ENST00000406961.1_Missense_Mutation_p.P828S	p.P828S			Q15788	NCOA1_HUMAN			15	3193	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		828			Interaction with CREBBP.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.2482C>T	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312846	0.81358	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02709	4.29;4.29;4.19;4.29;4.29;4.29;4.29	6.07	5.2	0.72013	.	0.188268	0.46758	D	0.000264	T	0.05364	0.0142	N	0.08118	0	0.50632	D	0.999883	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.994;0.998;0.994	T	0.64846	-0.6311	10	0.18276	T	0.48	.	15.0158	0.71584	0.0:0.9316:0.0:0.0684	.	828;828;828;677	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	S	828;828;677;828;828;828;828	ENSP00000385216:P828S;ENSP00000385097:P828S;ENSP00000385195:P677S;ENSP00000444039:P828S;ENSP00000320940:P828S;ENSP00000288599:P828S;ENSP00000379197:P828S	ENSP00000288599:P828S	P	+	1	0	NCOA1	24787367	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.868000	0.63021	1.586000	0.49944	0.655000	0.94253	CCA		0.488	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		4	81	0	0	0	1	0	4	81				
BBS2	583	broad.mit.edu	37	16	56519603	56519603	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:56519603T>A	ENST00000245157.5	-	16	2378	c.1958A>T	c.(1957-1959)gAc>gTc	p.D653V	BBS2_ENST00000568104.1_Missense_Mutation_p.D607V	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	653					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						ATTTAGCAAGTCTCTATTAAG	0.378									Bardet-Biedl syndrome																													ENST00000245157.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						c.(1957-1959)gAc>gTc		Bardet-Biedl syndrome 2							149.0	142.0	144.0					16																	56519603		2198	4300	6498	SO:0001583	missense	583	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56519603T>A	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1958A>T	16.37:g.56519603T>A	ENSP00000245157:p.Asp653Val					BBS2_ENST00000568104.1_Missense_Mutation_p.D607V	p.D653V	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN			16	2378	-			653					Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	c.1958A>T	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.534756	0.85812	.	.	ENSG00000125124	ENST00000245157	D	0.92199	-2.99	5.64	5.64	0.86602	.	0.042704	0.85682	D	0.000000	D	0.95865	0.8654	M	0.84846	2.72	0.80722	D	1	D	0.60575	0.988	P	0.61397	0.888	D	0.96312	0.9229	10	0.66056	D	0.02	-14.8724	15.8479	0.78905	0.0:0.0:0.0:1.0	.	653	Q9BXC9	BBS2_HUMAN	V	653	ENSP00000245157:D653V	ENSP00000245157:D653V	D	-	2	0	BBS2	55077104	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.484000	0.81180	2.145000	0.66743	0.477000	0.44152	GAC		0.378	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		34	126	0	0	0	1	0	34	126				
CTNND1	1500	broad.mit.edu	37	11	57575889	57575889	+	Missense_Mutation	SNP	C	C	T	rs200948871		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:57575889C>T	ENST00000399050.4	+	14	2655	c.2119C>T	c.(2119-2121)Cgt>Tgt	p.R707C	CTNND1_ENST00000528232.1_Missense_Mutation_p.R606C|CTNND1_ENST00000529873.1_Missense_Mutation_p.R647C|CTNND1_ENST00000526772.1_Missense_Mutation_p.R378C|CTNND1_ENST00000361796.4_Missense_Mutation_p.R701C|CTNND1_ENST00000532787.1_Missense_Mutation_p.R600C|CTNND1_ENST00000361391.6_Missense_Mutation_p.R701C|CTNND1_ENST00000534579.1_Missense_Mutation_p.R647C|CTNND1_ENST00000532844.1_Missense_Mutation_p.R653C|CTNND1_ENST00000529919.1_Missense_Mutation_p.R707C|CTNND1_ENST00000426142.2_Missense_Mutation_p.R600C|CTNND1_ENST00000531014.1_Missense_Mutation_p.R378C|CTNND1_ENST00000361332.4_Missense_Mutation_p.R701C|CTNND1_ENST00000399039.4_Missense_Mutation_p.R707C|CTNND1_ENST00000528621.1_Missense_Mutation_p.R647C|CTNND1_ENST00000530748.1_Missense_Mutation_p.R653C|CTNND1_ENST00000415361.2_Missense_Mutation_p.R606C|CTNND1_ENST00000529986.1_Missense_Mutation_p.R600C|CTNND1_ENST00000525902.1_Missense_Mutation_p.R384C|CTNND1_ENST00000532463.1_Missense_Mutation_p.R600C|CTNND1_ENST00000524630.1_Missense_Mutation_p.R701C|CTNND1_ENST00000526357.1_Missense_Mutation_p.R647C|CTNND1_ENST00000529526.1_Missense_Mutation_p.R647C|CTNND1_ENST00000527467.1_Missense_Mutation_p.R384C|CTNND1_ENST00000360682.6_Missense_Mutation_p.R707C|CTNND1_ENST00000526938.1_Missense_Mutation_p.R707C|CTNND1_ENST00000358694.6_Missense_Mutation_p.R701C|CTNND1_ENST00000532649.1_Missense_Mutation_p.R647C|CTNND1_ENST00000428599.2_Missense_Mutation_p.R701C|CTNND1_ENST00000530094.1_Missense_Mutation_p.R600C|CTNND1_ENST00000533667.1_Missense_Mutation_p.R378C|CTNND1_ENST00000532245.1_Missense_Mutation_p.R600C	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	707					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTCTGCTCTGCGTCAAGAGAA	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19449	0.0		0.0	False		,,,				2504	0.0					ENST00000524630.1																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(2101-2103)Cgt>Tgt		catenin (cadherin-associated protein), delta 1		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4014		0,0,2007	117.0	118.0	118.0		2119,2101,2101,2101,2101,1816,1798,1798,1816,1798,1798,1798,1957,1957,2119,1939,1939,1939,1939,1798,1939,2101	5.4	1.0	11		118	1,8367		0,1,4183	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	CTNND1	NM_001085458.1,NM_001085459.1,NM_001085460.1,NM_001085461.1,NM_001085462.1,NM_001085463.1,NM_001085464.1,NM_001085465.1,NM_001085466.1,NM_001085467.1,NM_001085468.1,NM_001085469.1,NM_001206883.1,NM_001206884.1,NM_001206885.1,NM_001206886.1,NM_001206887.1,NM_001206888.1,NM_001206889.1,NM_001206890.1,NM_001206891.1,NM_001331.2	180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180,180	0,1,6190	TT,TC,CC		0.012,0.0,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	707/969,701/963,701/934,701/934,701/934,606/868,600/862,600/841,606/839,600/833,600/833,600/833,653/915,653/886,707/940,647/909,647/888,647/880,647/880,600/833,647/880,701/942	57575889	1,12381	2007	4184	6191	SO:0001583	missense	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57575889C>T	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2119C>T	11.37:g.57575889C>T	ENSP00000382004:p.Arg707Cys					CTNND1_ENST00000528621.1_Missense_Mutation_p.R647C|CTNND1_ENST00000415361.2_Missense_Mutation_p.R606C|CTNND1_ENST00000426142.2_Missense_Mutation_p.R600C|CTNND1_ENST00000526772.1_Missense_Mutation_p.R378C|CTNND1_ENST00000534579.1_Missense_Mutation_p.R647C|CTNND1_ENST00000529986.1_Missense_Mutation_p.R600C|CTNND1_ENST00000532463.1_Missense_Mutation_p.R600C|CTNND1_ENST00000428599.2_Missense_Mutation_p.R701C|CTNND1_ENST00000361796.4_Missense_Mutation_p.R701C|CTNND1_ENST00000526357.1_Missense_Mutation_p.R647C|CTNND1_ENST00000361332.4_Missense_Mutation_p.R701C|CTNND1_ENST00000529919.1_Missense_Mutation_p.R707C|CTNND1_ENST00000525902.1_Missense_Mutation_p.R384C|CTNND1_ENST00000526938.1_Missense_Mutation_p.R707C|CTNND1_ENST00000399050.4_Missense_Mutation_p.R707C|CTNND1_ENST00000528232.1_Missense_Mutation_p.R606C|CTNND1_ENST00000527467.1_Missense_Mutation_p.R384C|CTNND1_ENST00000532649.1_Missense_Mutation_p.R647C|CTNND1_ENST00000532245.1_Missense_Mutation_p.R600C|CTNND1_ENST00000531014.1_Missense_Mutation_p.R378C|CTNND1_ENST00000530094.1_Missense_Mutation_p.R600C|CTNND1_ENST00000360682.6_Missense_Mutation_p.R707C|CTNND1_ENST00000399039.4_Missense_Mutation_p.R707C|CTNND1_ENST00000532787.1_Missense_Mutation_p.R600C|CTNND1_ENST00000532844.1_Missense_Mutation_p.R653C|CTNND1_ENST00000529526.1_Missense_Mutation_p.R647C|CTNND1_ENST00000529873.1_Missense_Mutation_p.R647C|CTNND1_ENST00000361391.6_Missense_Mutation_p.R701C|CTNND1_ENST00000358694.6_Missense_Mutation_p.R701C|CTNND1_ENST00000530748.1_Missense_Mutation_p.R653C|CTNND1_ENST00000533667.1_Missense_Mutation_p.R378C	p.R701C			O60716	CTND1_HUMAN			13	2614	+		all_epithelial(135;0.155)	707					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.2101C>T	CCDS44604.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	26.1	4.704718	0.88924	0.0	1.2E-4	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.44	5.44	0.79542	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81973	0.4936	M	0.69523	2.12	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.998;0.998;0.999;0.998;0.998;0.998;1.0;0.998;0.999	D	0.83610	0.0133	10	0.87932	D	0	-5.2851	18.8697	0.92308	0.0:1.0:0.0:0.0	.	707;701;707;600;647;647;701;707;707	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	C	701;707;707;707;701;647;600;707;701;701;600;600;701;600;378;647;647;653;701;384;606;378;378;647;384;653;647;600;606;600;647;707	ENSP00000436543:R701C;ENSP00000434808:R707C;ENSP00000381996:R707C;ENSP00000353902:R707C;ENSP00000354907:R701C;ENSP00000436323:R647C;ENSP00000409930:R600C;ENSP00000382004:R707C;ENSP00000354785:R701C;ENSP00000354823:R701C;ENSP00000432075:R600C;ENSP00000437156:R600C;ENSP00000351527:R701C;ENSP00000434949:R600C;ENSP00000437051:R378C;ENSP00000435379:R647C;ENSP00000432243:R647C;ENSP00000436744:R653C;ENSP00000413586:R701C;ENSP00000434900:R384C;ENSP00000435266:R606C;ENSP00000432623:R378C;ENSP00000433158:R378C;ENSP00000435494:R647C;ENSP00000434672:R384C;ENSP00000433276:R653C;ENSP00000433334:R647C;ENSP00000437327:R600C;ENSP00000403518:R606C;ENSP00000434017:R600C;ENSP00000435789:R647C;ENSP00000432041:R707C	ENSP00000351527:R701C	R	+	1	0	CTNND1	57332465	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.560000	0.67332	2.570000	0.86706	0.467000	0.42956	CGT		0.458	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		5	150	0	0	0	1	0	5	150				
PPP1R13L	10848	broad.mit.edu	37	19	45889353	45889353	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:45889353G>A	ENST00000418234.2	-	9	1979	c.1901C>T	c.(1900-1902)gCg>gTg	p.A634V	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.A634V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	634					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGTCAGCGCCGCGTCCAGGAG	0.741																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1900-1902)gCg>gTg		protein phosphatase 1, regulatory subunit 13 like							9.0	10.0	10.0					19																	45889353		2180	4261	6441	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45889353G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1901C>T	19.37:g.45889353G>A	ENSP00000403902:p.Ala634Val					PPP1R13L_ENST00000360957.5_Missense_Mutation_p.A634V	p.A634V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	9	1979	-		all_neural(266;0.224)|Ovarian(192;0.231)	634					Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.1901C>T	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.720042	0.68844	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.79653	-1.29;-1.29	4.99	4.99	0.66335	Src homology-3 domain (1);Ankyrin repeat-containing domain (4);	0.179012	0.48767	D	0.000175	D	0.91771	0.7397	M	0.94101	3.495	0.51482	D	0.999923	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.925	D	0.93663	0.6983	10	0.87932	D	0	.	15.8232	0.78676	0.0:0.0:1.0:0.0	.	634;213	Q8WUF5;A7YME7	IASPP_HUMAN;.	V	634;634;208	ENSP00000403902:A634V;ENSP00000354218:A634V	ENSP00000221478:A208V	A	-	2	0	PPP1R13L	50581193	1.000000	0.71417	0.974000	0.42286	0.814000	0.46013	5.014000	0.64029	2.601000	0.87937	0.561000	0.74099	GCG		0.741	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		3	14	0	0	0	1	0	3	14				
ANKRD20A5P	440482	broad.mit.edu	37	18	14183992	14183992	+	RNA	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:14183992T>C	ENST00000581935.1	+	0	681							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						AATCCAAACCTTAAGGATATC	0.448																																						ENST00000581935.1																			0				lung(3)	3															95.0	95.0	95.0					18																	14183992		2202	4296	6498			440482							g.chr18:14183992T>C	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14183992T>C														0	681	+								Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																						0.448	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1			8	213	0	0	0	1	0	8	213				
RGS3	5998	broad.mit.edu	37	9	116276863	116276863	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:116276863G>A	ENST00000374140.2	+	16	1812	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	RGS3_ENST00000374136.1_Missense_Mutation_p.A161T|RGS3_ENST00000343817.5_Missense_Mutation_p.A254T|RGS3_ENST00000394646.3_Missense_Mutation_p.A254T|RGS3_ENST00000350696.5_Missense_Mutation_p.A535T|RGS3_ENST00000317613.6_Missense_Mutation_p.A423T	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	535					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGGCCGCATGCCACGCACTC	0.587																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(1603-1605)Gcc>Acc		regulator of G-protein signaling 3							140.0	106.0	117.0					9																	116276863		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116276863G>A	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.1603G>A	9.37:g.116276863G>A	ENSP00000363255:p.Ala535Thr					RGS3_ENST00000343817.5_Missense_Mutation_p.A254T|RGS3_ENST00000317613.6_Missense_Mutation_p.A423T|RGS3_ENST00000350696.5_Missense_Mutation_p.A535T|RGS3_ENST00000394646.3_Missense_Mutation_p.A254T|RGS3_ENST00000374136.1_Missense_Mutation_p.A161T	p.A535T	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			16	1812	+			535					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.1603G>A	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	9.874	1.199754	0.22121	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646;ENST00000374136	T;T;T;T;T	0.62639	1.0;1.0;1.31;0.5;0.01	5.08	-3.38	0.04883	.	0.812772	0.11691	N	0.538892	T	0.33469	0.0864	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.0;0.001;0.002;0.001;0.001;0.001	T	0.25222	-1.0138	10	0.15499	T	0.54	.	12.1185	0.53878	0.4307:0.0:0.5693:0.0	.	254;161;254;425;423;535	B3KUB2;Q5VXC0;P49796-4;B3KWG8;P49796-5;P49796	.;.;.;.;.;RGS3_HUMAN	T	535;535;423;254;254;161	ENSP00000363255:A535T;ENSP00000259406:A535T;ENSP00000312844:A423T;ENSP00000340284:A254T;ENSP00000378141:A254T	ENSP00000312844:A423T	A	+	1	0	RGS3	115316684	0.000000	0.05858	0.003000	0.11579	0.752000	0.42762	-0.274000	0.08537	-0.551000	0.06175	0.561000	0.74099	GCC		0.587	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		32	102	0	0	0	1	0	32	102				
BTG1	694	broad.mit.edu	37	12	92539207	92539207	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:92539207T>C	ENST00000256015.3	-	1	466	c.105A>G	c.(103-105)cgA>cgG	p.R35R	C12orf79_ENST00000549802.1_5'Flank|C12orf79_ENST00000546975.1_5'Flank|RP11-796E2.4_ENST00000501008.2_RNA|RP11-796E2.4_ENST00000499685.2_RNA|C12orf79_ENST00000551563.2_5'Flank	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	35					cell migration (GO:0016477)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of myoblast differentiation (GO:0045663)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|transcription cofactor activity (GO:0003712)			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				TCTGCAGCTGTCGCTCGCTCG	0.667			T	MYC	BCLL																																	ENST00000256015.3				Dom	yes		12	12q22	694	T	"""B-cell translocation gene 1, anti-proliferative"""			L	MYC		BCLL		0				haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16						c.(103-105)cgA>cgG		B-cell translocation gene 1, anti-proliferative							39.0	42.0	41.0					12																	92539207		2203	4300	6503	SO:0001819	synonymous_variant	694				cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity	g.chr12:92539207T>C		CCDS9043.1	12q21.33	2012-10-02			ENSG00000133639	ENSG00000133639			1130	protein-coding gene	gene with protein product		109580				15033446	Standard	NM_001731		Approved		uc001tby.3	P62324	OTTHUMG00000170092	ENST00000256015.3:c.105A>G	12.37:g.92539207T>C							p.R35R	NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN			1	466	-		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)	35					P31607	Silent	SNP	ENST00000256015.3	37	c.105A>G	CCDS9043.1																																																																																				0.667	BTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407227.1			13	66	0	0	0	1	0	13	66				
APBB3	10307	broad.mit.edu	37	5	139938224	139938224	+	Silent	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:139938224G>C	ENST00000357560.4	-	13	1850	c.1407C>G	c.(1405-1407)gtC>gtG	p.V469V	APBB3_ENST00000508496.2_Silent_p.V246V|APBB3_ENST00000412920.3_Silent_p.V467V|APBB3_ENST00000354402.5_Silent_p.V476V|SRA1_ENST00000520427.1_5'Flank|APBB3_ENST00000356738.2_Silent_p.V474V|SRA1_ENST00000336283.6_5'Flank|APBB3_ENST00000358580.5_3'UTR	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	469						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAGAGAAGACACCCCGCT	0.597																																						ENST00000357560.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11						c.(1405-1407)gtC>gtG		amyloid beta (A4) precursor protein-binding, family B, member 3							90.0	97.0	95.0					5																	139938224		2203	4300	6503	SO:0001819	synonymous_variant	10307					actin cytoskeleton|cytoplasm		g.chr5:139938224G>C	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1407C>G	5.37:g.139938224G>C						APBB3_ENST00000354402.5_Silent_p.V476V|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000508496.2_Silent_p.V246V|APBB3_ENST00000412920.3_Silent_p.V467V|APBB3_ENST00000356738.2_Silent_p.V474V	p.V469V	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1850	-			469					B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Silent	SNP	ENST00000357560.4	37	c.1407C>G	CCDS4229.1																																																																																				0.597	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		69	168	0	0	0	1	0	69	168				
CTNNB1	1499	broad.mit.edu	37	3	41266654	41266654	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:41266654C>T	ENST00000349496.5	+	4	731	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C	CTNNB1_ENST00000405570.1_Missense_Mutation_p.R151C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R151C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R151C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R144C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	151					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.M1_V173del(1)|p.I35_K170del(1)|p.A13_R151del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		ACTTGCCACACGTGCAATCCC	0.428		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	3	Deletion - In frame(3)	p.M1_V173del(1)|p.I35_K170del(1)|p.A13_R151del(1)	liver(2)|skin(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(451-453)Cgt>Tgt		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						127.0	115.0	119.0					3																	41266654		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266654C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.451C>T	3.37:g.41266654C>T	ENSP00000344456:p.Arg151Cys					CTNNB1_ENST00000405570.1_Missense_Mutation_p.R151C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R151C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.R151C|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R144C	p.R151C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	4	731	+			151					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.451C>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875594	0.72180	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73513	0.3596	M	0.73430	2.235	0.80722	D	1	D;D	0.63880	0.993;0.993	P;P	0.51101	0.659;0.659	T	0.76462	-0.2950	10	0.62326	D	0.03	-0.0623	19.8405	0.96681	0.0:1.0:0.0:0.0	.	79;151	B4DSW9;P35222	.;CTNB1_HUMAN	C	151;151;151;144;151	ENSP00000385604:R151C;ENSP00000379486:R151C;ENSP00000344456:R151C;ENSP00000411226:R144C;ENSP00000379488:R151C	ENSP00000344456:R151C	R	+	1	0	CTNNB1	41241658	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.951000	0.63610	2.692000	0.91855	0.655000	0.94253	CGT		0.428	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		18	68	0	0	0	1	0	18	68				
ADAMTS15	170689	broad.mit.edu	37	11	130343138	130343138	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:130343138T>C	ENST00000299164.2	+	8	2275	c.2275T>C	c.(2275-2277)Tac>Cac	p.Y759H		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	759	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TCTGCTGCGGTACAGCGGCAC	0.662																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(2275-2277)Tac>Cac		ADAM metallopeptidase with thrombospondin type 1 motif, 15							69.0	62.0	65.0					11																	130343138		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343138T>C	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2275T>C	11.37:g.130343138T>C	ENSP00000299164:p.Tyr759His						p.Y759H	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2275	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	759			Spacer.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.2275T>C	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.792235	0.90453	.	.	ENSG00000166106	ENST00000299164	T	0.66460	-0.21	5.91	5.91	0.95273	ADAM-TS Spacer 1 (1);	.	.	.	.	D	0.87799	0.6268	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91561	0.5264	9	0.87932	D	0	.	16.3436	0.83110	0.0:0.0:0.0:1.0	.	759	Q8TE58	ATS15_HUMAN	H	759	ENSP00000299164:Y759H	ENSP00000299164:Y759H	Y	+	1	0	ADAMTS15	129848348	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.681000	0.84073	2.269000	0.75478	0.533000	0.62120	TAC		0.662	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		8	136	0	0	0	1	0	8	136				
PTPRG	5793	broad.mit.edu	37	3	62261570	62261570	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:62261570A>G	ENST00000474889.1	+	24	3865	c.3488A>G	c.(3487-3489)aAa>aGa	p.K1163R	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.K1134R|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1163	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TGTAATGCAAAATATGTGGAA	0.333																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3487-3489)aAa>aGa		protein tyrosine phosphatase, receptor type, G							107.0	107.0	107.0					3																	62261570		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62261570A>G	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3488A>G	3.37:g.62261570A>G	ENSP00000418112:p.Lys1163Arg					PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.K1134R|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	p.K1163R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	24	3865	+			1163			Tyrosine-protein phosphatase 2.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.3488A>G	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.248644	0.39797	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.11385	2.78;2.78	5.55	5.55	0.83447	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.048307	0.85682	D	0.000000	T	0.09379	0.0231	L	0.28054	0.825	0.46078	D	0.998852	B;B;B	0.12013	0.0;0.005;0.002	B;B;B	0.17098	0.002;0.017;0.005	T	0.23476	-1.0187	10	0.20519	T	0.43	.	15.6889	0.77434	1.0:0.0:0.0:0.0	.	409;1134;1163	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	R	1163;1134	ENSP00000418112:K1163R;ENSP00000295874:K1134R	ENSP00000295874:K1134R	K	+	2	0	PTPRG	62236610	1.000000	0.71417	0.981000	0.43875	0.928000	0.56348	5.828000	0.69307	2.111000	0.64477	0.383000	0.25322	AAA		0.333	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		5	43	0	0	0	1	0	5	43				
DLC1	10395	broad.mit.edu	37	8	12943919	12943919	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:12943919A>G	ENST00000276297.4	-	17	4755	c.4346T>C	c.(4345-4347)gTg>gCg	p.V1449A	DLC1_ENST00000512044.2_Missense_Mutation_p.V1046A|DLC1_ENST00000520226.1_Missense_Mutation_p.V938A|DLC1_ENST00000358919.2_Missense_Mutation_p.V1012A|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1449	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ATCGTGATCCACAGAGGTTAG	0.478																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(4345-4347)gTg>gCg		deleted in liver cancer 1							115.0	114.0	114.0					8																	12943919		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12943919A>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.4346T>C	8.37:g.12943919A>G	ENSP00000276297:p.Val1449Ala					DLC1_ENST00000512044.2_Missense_Mutation_p.V1046A|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.V938A|DLC1_ENST00000358919.2_Missense_Mutation_p.V1012A	p.V1449A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			17	4755	-			1449			START.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.4346T>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.154050	0.78114	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	4.99	4.99	0.66335	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91040	0.7181	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	0.966;1.0;1.0	D;D;D	0.87578	0.942;0.997;0.998	D	0.92339	0.5880	10	0.87932	D	0	.	15.1544	0.72730	1.0:0.0:0.0:0.0	.	1449;1046;1012	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	A	1449;1012;388;1046;938	ENSP00000276297:V1449A;ENSP00000351797:V1012A;ENSP00000422595:V1046A;ENSP00000428028:V938A	ENSP00000276297:V1449A	V	-	2	0	DLC1	12988290	1.000000	0.71417	0.997000	0.53966	0.461000	0.32589	8.909000	0.92647	2.234000	0.73211	0.459000	0.35465	GTG		0.478	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		5	167	0	0	0	1	0	5	167				
ZNF252P	286101	broad.mit.edu	37	8	146220493	146220493	+	RNA	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:146220493C>T	ENST00000426361.2	-	0	245				RP5-1047A19.4_ENST00000530223.1_RNA	NR_023392.1				zinc finger protein 252, pseudogene											endometrium(1)	1						GCAGCCACCTCAAGATCACAG	0.468																																						ENST00000426361.2																			0				endometrium(1)	1																																														286101							g.chr8:146220493C>T	BC019922		8q24.3	2012-10-05	2012-04-19	2012-04-19	ENSG00000196922	ENSG00000196922			13046	pseudogene	pseudogene			"""zinc finger protein 252"""	ZNF252			Standard	NR_023392		Approved		uc011llo.2		OTTHUMG00000165201		8.37:g.146220493C>T								NR_023392.1						0	245	-									RNA	SNP	ENST00000426361.2	37																																																																																						0.468	ZNF252P-008	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000451422.1	NR_023392		14	31	0	0	0	1	0	14	31				
SYNJ2	8871	broad.mit.edu	37	6	158487492	158487492	+	Silent	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:158487492G>T	ENST00000355585.4	+	12	1617	c.1542G>T	c.(1540-1542)ctG>ctT	p.L514L	SYNJ2_ENST00000449859.2_Silent_p.L442L|SYNJ2_ENST00000367121.3_Silent_p.L514L|SYNJ2_ENST00000367122.2_Silent_p.L514L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	514					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCAGGATCCTGAAAGCTATGA	0.507																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1540-1542)ctG>ctT		synaptojanin 2							74.0	68.0	70.0					6																	158487492		2203	4300	6503	SO:0001819	synonymous_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158487492G>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1542G>T	6.37:g.158487492G>T						SYNJ2_ENST00000367121.3_Silent_p.L514L|SYNJ2_ENST00000449859.2_Silent_p.L442L|SYNJ2_ENST00000367122.2_Silent_p.L514L	p.L514L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	12	1617	+			514					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	c.1542G>T	CCDS5254.1																																																																																				0.507	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			15	61	1	0	2.23348e-06	1	2.28775e-06	15	61				
NKX2-4	644524	broad.mit.edu	37	20	21376835	21376835	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:21376835C>T	ENST00000351817.4	-	2	1407	c.779G>A	c.(778-780)gGc>gAc	p.G260D	RP11-227D2.3_ENST00000552439.1_RNA|RP11-227D2.3_ENST00000419666.2_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	260					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						gcccaggccgcccTCCTGCTG	0.711																																						ENST00000351817.4																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.(778-780)gGc>gAc		NK2 homeobox 4							14.0	13.0	13.0					20																	21376835		2182	4275	6457	SO:0001583	missense	644524				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:21376835C>T		CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"""Homeoboxes / ANTP class : NKL subclass"""	7837	protein-coding gene	gene with protein product		607808	"""NK-2 (Drosophila) homolog D"", ""NK2 transcription factor related, locus 4 (Drosophila)"""	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.779G>A	20.37:g.21376835C>T	ENSP00000345147:p.Gly260Asp						p.G260D	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN			2	1407	-			260					Q5VZV8	Missense_Mutation	SNP	ENST00000351817.4	37	c.779G>A	CCDS42855.1	.	.	.	.	.	.	.	.	.	.	C	4.103	0.017163	0.07959	.	.	ENSG00000125816	ENST00000351817	D	0.92752	-3.1	3.39	-0.33	0.12683	.	1.517740	0.04922	U	0.455134	D	0.86422	0.5929	L	0.39898	1.24	0.37315	D	0.909301	B	0.30068	0.267	B	0.30401	0.115	T	0.72261	-0.4345	10	0.10377	T	0.69	.	7.4241	0.27088	0.0:0.5654:0.3211:0.1135	.	260	Q9H2Z4	NKX24_HUMAN	D	260	ENSP00000345147:G260D	ENSP00000345147:G260D	G	-	2	0	NKX2-4	21324835	0.000000	0.05858	0.705000	0.30386	0.530000	0.34684	-0.294000	0.08309	0.105000	0.17753	0.484000	0.47621	GGC		0.711	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2			4	6	0	0	0	1	0	4	6				
ELSPBP1	64100	broad.mit.edu	37	19	48519200	48519200	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:48519200A>C	ENST00000339841.2	+	4	437	c.259A>C	c.(259-261)Agc>Cgc	p.S87R	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	87	Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GGCTTATAACAGCTGCATCTC	0.468																																						ENST00000339841.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10						c.(259-261)Agc>Cgc		epididymal sperm binding protein 1							117.0	97.0	104.0					19																	48519200		2203	4300	6503	SO:0001583	missense	64100				single fertilization	extracellular region		g.chr19:48519200A>C	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"""epididymal protein 12"""	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.259A>C	19.37:g.48519200A>C	ENSP00000340660:p.Ser87Arg					ELSPBP1_ENST00000597519.1_Intron	p.S87R	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	4	437	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	87			Fibronectin type-II 2.		Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	c.259A>C	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	A	9.465	1.093991	0.20471	.	.	ENSG00000169393	ENST00000339841	T	0.53423	0.62	3.4	2.36	0.29203	Fibronectin, type II, collagen-binding (4);Kringle-like fold (1);	0.809207	0.10841	N	0.628296	T	0.41236	0.1150	L	0.54323	1.7	0.09310	N	1	B	0.21753	0.06	B	0.23150	0.044	T	0.39702	-0.9601	10	0.59425	D	0.04	.	5.7658	0.18225	0.8643:0.0:0.1357:0.0	.	87	Q96BH3	ESPB1_HUMAN	R	87	ENSP00000340660:S87R	ENSP00000340660:S87R	S	+	1	0	ELSPBP1	53211012	0.004000	0.15560	0.005000	0.12908	0.074000	0.17049	1.626000	0.37039	0.447000	0.26695	0.443000	0.29094	AGC		0.468	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			29	74	0	0	0	1	0	29	74				
EFR3A	23167	broad.mit.edu	37	8	132952768	132952768	+	Silent	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:132952768T>G	ENST00000254624.5	+	2	258	c.33T>G	c.(31-33)gcT>gcG	p.A11A	EFR3A_ENST00000519656.1_5'UTR|EFR3A_ENST00000334503.4_Silent_p.A11A	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	11						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCTGTTCCGCTTTGCGTCCTC	0.373																																						ENST00000254624.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35						c.(31-33)gcT>gcG		EFR3 homolog A (S. cerevisiae)							80.0	78.0	78.0					8																	132952768		2020	4169	6189	SO:0001819	synonymous_variant	23167					plasma membrane	binding	g.chr8:132952768T>G	D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.33T>G	8.37:g.132952768T>G						EFR3A_ENST00000519656.1_5'UTR|EFR3A_ENST00000334503.4_Silent_p.A11A	p.A11A	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)		2	258	+	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		11					A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP	ENST00000254624.5	37	c.33T>G	CCDS34942.2																																																																																				0.373	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137		6	13	0	0	0	1	0	6	13				
EFNB3	1949	broad.mit.edu	37	17	7609005	7609005	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:7609005T>C	ENST00000226091.2	+	1	486	c.89T>C	c.(88-90)cTg>cCg	p.L30P		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	30	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GGGCTCAGCCTGGAGCCTGTC	0.682																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(88-90)cTg>cCg		ephrin-B3							39.0	44.0	42.0					17																	7609005		2203	4300	6503	SO:0001583	missense	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7609005T>C	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.89T>C	17.37:g.7609005T>C	ENSP00000226091:p.Leu30Pro						p.L30P	NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN			1	486	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	30					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Missense_Mutation	SNP	ENST00000226091.2	37	c.89T>C	CCDS11120.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.604480	0.66445	.	.	ENSG00000108947	ENST00000226091	D	0.93712	-3.27	4.92	3.84	0.44239	Cupredoxin (2);	0.276696	0.21894	N	0.067558	D	0.89612	0.6765	L	0.52573	1.65	0.58432	D	0.999997	B	0.09022	0.002	B	0.13407	0.009	D	0.84816	0.0793	10	0.87932	D	0	2.4642	7.2982	0.26405	0.0:0.1018:0.0:0.8982	.	30	Q15768	EFNB3_HUMAN	P	30	ENSP00000226091:L30P	ENSP00000226091:L30P	L	+	2	0	EFNB3	7549730	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.455000	0.66658	0.737000	0.32582	0.448000	0.29417	CTG		0.682	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		19	58	0	0	0	1	0	19	58				
OR52B6	340980	broad.mit.edu	37	11	5602245	5602245	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:5602245C>T	ENST00000345043.2	+	1	139	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATATCTGGCTGTCCATCCC	0.507																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(139-141)Ctg>Ttg		olfactory receptor, family 52, subfamily B, member 6							113.0	113.0	113.0					11																	5602245		2144	4270	6414	SO:0001819	synonymous_variant	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602245C>T	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.139C>T	11.37:g.5602245C>T						HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.L47L	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	139	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	47					Q6IFI7	Silent	SNP	ENST00000345043.2	37	c.139C>T	CCDS41611.1																																																																																				0.507	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		14	64	0	0	0	1	0	14	64				
RNPS1	10921	broad.mit.edu	37	16	2313109	2313109	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2313109C>T	ENST00000565678.1	-	4	952	c.407G>A	c.(406-408)cGc>cAc	p.R136H	RNPS1_ENST00000301730.8_Missense_Mutation_p.R136H|RNPS1_ENST00000320225.5_Missense_Mutation_p.R136H|RNPS1_ENST00000561718.1_5'UTR|RNPS1_ENST00000566458.1_Missense_Mutation_p.R113H|RNPS1_ENST00000568631.1_Missense_Mutation_p.R136H|RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000397086.2_Missense_Mutation_p.R136H|RNPS1_ENST00000569598.2_Missense_Mutation_p.R42H|RNPS1_ENST00000567147.1_Missense_Mutation_p.R113H			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	136	Arg-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						GGAGCGGGAGCGCCTCCTGTT	0.582																																						ENST00000565678.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						c.(406-408)cGc>cAc		RNA binding protein S1, serine-rich domain							28.0	29.0	28.0					16																	2313109		2198	4300	6498	SO:0001583	missense	10921				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr16:2313109C>T	AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"""RNA binding motif (RRM) containing"""	10080	protein-coding gene	gene with protein product		606447	"""RNA-binding protein S1, serine-rich domain"""			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.407G>A	16.37:g.2313109C>T	ENSP00000457723:p.Arg136His					RNPS1_ENST00000301730.8_Missense_Mutation_p.R136H|RNPS1_ENST00000320225.5_Missense_Mutation_p.R136H|RNPS1_ENST00000568631.1_Missense_Mutation_p.R136H|RNPS1_ENST00000569598.2_Missense_Mutation_p.R42H|RNPS1_ENST00000397086.2_Missense_Mutation_p.R136H|RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000566458.1_Missense_Mutation_p.R113H|RNPS1_ENST00000561718.1_5'UTR|RNPS1_ENST00000567147.1_Missense_Mutation_p.R113H	p.R136H			Q15287	RNPS1_HUMAN			4	952	-			136			Arg-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|Ser-rich.		A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Missense_Mutation	SNP	ENST00000565678.1	37	c.407G>A	CCDS10465.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813116	0.70912	.	.	ENSG00000205937	ENST00000320225;ENST00000397086;ENST00000301730	T;T;T	0.44482	0.92;0.92;0.92	6.06	5.12	0.69794	.	0.193122	0.56097	N	0.000025	T	0.40372	0.1114	L	0.57536	1.79	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.09377	0.004;0.001	T	0.23297	-1.0192	10	0.42905	T	0.14	-5.0952	12.9088	0.58169	0.0:0.9223:0.0:0.0777	.	113;136	Q15287-2;Q15287	.;RNPS1_HUMAN	H	136	ENSP00000315859:R136H;ENSP00000380275:R136H;ENSP00000301730:R136H	ENSP00000301730:R136H	R	-	2	0	RNPS1	2253110	1.000000	0.71417	0.961000	0.40146	0.914000	0.54420	5.134000	0.64770	1.582000	0.49881	0.579000	0.79373	CGC		0.582	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435415.1	NM_080594		14	51	0	0	0	1	0	14	51				
GPC6	10082	broad.mit.edu	37	13	94680114	94680114	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:94680114G>T	ENST00000377047.4	+	4	1458	c.843G>T	c.(841-843)caG>caT	p.Q281H	RNA5SP35_ENST00000391257.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	281					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TGGCAAATCAGGCTGACCTCG	0.493																																						ENST00000377047.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38						c.(841-843)caG>caT		glypican 6							141.0	128.0	132.0					13																	94680114		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:94680114G>T	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.843G>T	13.37:g.94680114G>T	ENSP00000366246:p.Gln281His						p.Q281H	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN			4	1458	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	281					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.843G>T	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596810	0.66332	.	.	ENSG00000183098	ENST00000377047	T	0.53640	0.61	5.79	2.18	0.27775	.	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	M	0.74467	2.265	0.39138	D	0.961999	P;P	0.38395	0.629;0.572	B;P	0.50754	0.316;0.649	T	0.51702	-0.8672	10	0.15952	T	0.53	.	9.6908	0.40127	0.3361:0.0:0.6639:0.0	.	281;281	B4E2M1;Q9Y625	.;GPC6_HUMAN	H	281	ENSP00000366246:Q281H	ENSP00000366246:Q281H	Q	+	3	2	GPC6	93478115	1.000000	0.71417	0.993000	0.49108	0.852000	0.48524	1.497000	0.35649	0.387000	0.25024	0.561000	0.74099	CAG		0.493	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		44	104	1	0	1.76056e-25	1	1.86429e-25	44	104				
FBXO7	25793	broad.mit.edu	37	22	32894221	32894221	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:32894221T>C	ENST00000266087.7	+	9	1600	c.1273T>C	c.(1273-1275)Tat>Cat	p.Y425H	FBXO7_ENST00000397426.1_Missense_Mutation_p.Y311H|FBXO7_ENST00000382058.3_Missense_Mutation_p.Y346H	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	425	Important for interaction with CDK6.|Pro-rich.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CATTCCATTCTATCCCAACCC	0.498																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1273-1275)Tat>Cat		F-box protein 7							185.0	181.0	182.0					22																	32894221		2203	4300	6503	SO:0001583	missense	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32894221T>C	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1273T>C	22.37:g.32894221T>C	ENSP00000266087:p.Tyr425His					FBXO7_ENST00000397426.1_Missense_Mutation_p.Y311H|FBXO7_ENST00000382058.3_Missense_Mutation_p.Y346H	p.Y425H	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN			9	1600	+			425					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	c.1273T>C	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	T	5.508	0.278654	0.10458	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.72051	-0.62;-0.05;-0.05	6.03	2.55	0.30701	F-box domain, Skp2-like (1);	0.666711	0.15751	N	0.246409	T	0.51719	0.1691	L	0.39020	1.185	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.26815	-1.0092	10	0.14656	T	0.56	-1.4666	3.0529	0.06175	0.0:0.3665:0.2492:0.3843	.	425;346;425	A8K7F7;Q9Y3I1-2;Q9Y3I1	.;.;FBX7_HUMAN	H	425;346;311	ENSP00000266087:Y425H;ENSP00000371490:Y346H;ENSP00000380571:Y311H	ENSP00000266087:Y425H	Y	+	1	0	FBXO7	31224221	0.961000	0.32948	0.003000	0.11579	0.451000	0.32288	1.739000	0.38217	0.517000	0.28361	0.533000	0.62120	TAT		0.498	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			20	203	0	0	0	1	0	20	203				
CCBL2	56267	broad.mit.edu	37	1	89408720	89408720	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:89408720A>G	ENST00000260508.4	-	13	1607	c.1270T>C	c.(1270-1272)Ttt>Ctt	p.F424L	CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.F390L	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	424					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		AACTTCTCAAACTGTGATTTA	0.303																																						ENST00000260508.4																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18						c.(1270-1272)Ttt>Ctt		cysteine conjugate-beta lyase 2	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						135.0	150.0	145.0					1																	89408720		2203	4300	6503	SO:0001583	missense	56267				biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding	g.chr1:89408720A>G	AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.1270T>C	1.37:g.89408720A>G	ENSP00000260508:p.Phe424Leu					CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.F390L|CCBL2_ENST00000446900.2_5'UTR	p.F424L	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN		all cancers(265;0.0117)|Epithelial(280;0.0341)	13	1607	-		Lung NSC(277;0.123)	424					B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	ENST00000260508.4	37	c.1270T>C	CCDS30766.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.621237	0.46736	.	.	ENSG00000137944	ENST00000370491;ENST00000260508	T;T	0.39997	1.05;1.05	5.29	5.29	0.74685	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.43612	0.1255	L	0.54863	1.705	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	T	0.34179	-0.9839	10	0.11485	T	0.65	-43.0381	15.5194	0.75854	1.0:0.0:0.0:0.0	.	424	Q6YP21	KAT3_HUMAN	L	390;424	ENSP00000359522:F390L;ENSP00000260508:F424L	ENSP00000260508:F424L	F	-	1	0	CCBL2	89181308	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.043000	0.71004	2.122000	0.65172	0.455000	0.32223	TTT		0.303	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661		60	214	0	0	0	1	0	60	214				
SLC38A2	54407	broad.mit.edu	37	12	46759025	46759025	+	Intron	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:46759025A>G	ENST00000256689.5	-	8	1008				SLC38A2_ENST00000551374.1_Missense_Mutation_p.Y9H|SLC38A2_ENST00000547252.1_Intron	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2						amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TCTGAAAAATATACACATCTT	0.348																																					Ovarian(9;448 492 8335 28722 40361)	ENST00000551374.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(25-27)Tat>Cat		solute carrier family 38, member 2							65.0	63.0	64.0					12																	46759025		692	1591	2283	SO:0001627	intron_variant	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46759025A>G	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.564-53T>C	12.37:g.46759025A>G						SLC38A2_ENST00000547252.1_Intron|SLC38A2_ENST00000256689.5_Intron	p.Y9H			Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	1	65	-	Lung SC(27;0.192)|Renal(347;0.236)		0			Regulates protein turnover upon amino acid deprivation (By similarity).		Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	ENST00000256689.5	37	c.25T>C	CCDS8749.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.601802	0.28534	.	.	ENSG00000134294	ENST00000551374	T	0.21734	1.99	5.64	0.505	0.16953	.	.	.	.	.	T	0.11239	0.0274	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35076	-0.9803	7	.	.	.	.	6.4788	0.22051	0.4741:0.371:0.1549:0.0	.	9	F8VQW8	.	H	9	ENSP00000450406:Y9H	.	Y	-	1	0	SLC38A2	45045292	0.069000	0.21087	0.000000	0.03702	0.007000	0.05969	4.772000	0.62324	0.508000	0.28173	0.533000	0.62120	TAT		0.348	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			17	24	0	0	0	1	0	17	24				
XIST	7503	broad.mit.edu	37	X	73065129	73065129	+	lincRNA	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:73065129A>G	ENST00000429829.1	-	0	7459					NR_001564.2				X inactive specific transcript (non-protein coding)																		CACACACATAACAGGCCAGGA	0.507																																						ENST00000429829.1																			0																				168.0	155.0	159.0					X																	73065129		876	1991	2867			7503							g.chrX:73065129A>G	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73065129A>G								NR_001564.2						0	7459	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.507	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		67	63	0	0	0	1	0	67	63				
PDE6A	5145	broad.mit.edu	37	5	149265933	149265933	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:149265933C>A	ENST00000255266.5	-	14	1852	c.1733G>T	c.(1732-1734)gGa>gTa	p.G578V		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	578					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	CTTCAGCTTTCCCGTCTGGAA	0.532																																						ENST00000255266.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44						c.(1732-1734)gGa>gTa		phosphodiesterase 6A, cGMP-specific, rod, alpha							117.0	99.0	105.0					5																	149265933		2203	4300	6503	SO:0001583	missense	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149265933C>A		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1733G>T	5.37:g.149265933C>A	ENSP00000255266:p.Gly578Val						p.G578V	NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		14	1852	-			578					Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	c.1733G>T	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522577	0.85600	.	.	ENSG00000132915	ENST00000255266	T	0.76968	-1.06	5.46	5.46	0.80206	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.060047	0.64402	D	0.000004	D	0.88596	0.6479	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89750	0.3939	10	0.72032	D	0.01	.	16.8095	0.85715	0.0:1.0:0.0:0.0	.	578	P16499	PDE6A_HUMAN	V	578	ENSP00000255266:G578V	ENSP00000255266:G578V	G	-	2	0	PDE6A	149246126	1.000000	0.71417	0.996000	0.52242	0.763000	0.43281	7.095000	0.76952	2.551000	0.86045	0.655000	0.94253	GGA		0.532	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			12	40	1	0	0.00010058	1	0.000102188	12	40				
SULT1E1	6783	broad.mit.edu	37	4	70721142	70721142	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:70721142T>C	ENST00000226444.3	-	3	260	c.148A>G	c.(148-150)Aca>Gca	p.T50A		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	50					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	ACCCAGGTTGTACCTGTAAAA	0.368																																						ENST00000226444.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(148-150)Aca>Gca		sulfotransferase family 1E, estrogen-preferring, member 1							99.0	98.0	98.0					4																	70721142		2203	4299	6502	SO:0001583	missense	6783				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	g.chr4:70721142T>C	BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"""Sulfotransferases, cytosolic"""	11377	protein-coding gene	gene with protein product		600043	"""sulfotransferase, estrogen-preferring"""	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.148A>G	4.37:g.70721142T>C	ENSP00000226444:p.Thr50Ala						p.T50A	NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN			3	260	-			50					Q8N6X5	Missense_Mutation	SNP	ENST00000226444.3	37	c.148A>G	CCDS3531.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.142705	0.37825	.	.	ENSG00000109193	ENST00000226444	T	0.05139	3.49	4.19	4.19	0.49359	Sulfotransferase domain (1);	0.076688	0.53938	D	0.000052	T	0.32882	0.0844	H	0.96333	3.805	0.49213	D	0.999766	D;D	0.63880	0.993;0.993	D;D	0.69307	0.963;0.963	T	0.39583	-0.9607	10	0.87932	D	0	.	9.9376	0.41561	0.0:0.0:0.0:1.0	.	50;50	Q53X91;P49888	.;ST1E1_HUMAN	A	50	ENSP00000226444:T50A	ENSP00000226444:T50A	T	-	1	0	SULT1E1	70755731	0.996000	0.38824	0.900000	0.35374	0.096000	0.18686	3.819000	0.55686	2.116000	0.64780	0.533000	0.62120	ACA		0.368	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420		5	45	0	0	0	1	0	5	45				
MAST4	375449	broad.mit.edu	37	5	66459127	66459127	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:66459127A>G	ENST00000403625.2	+	29	4415	c.4120A>G	c.(4120-4122)Atc>Gtc	p.I1374V	MAST4_ENST00000405643.1_Missense_Mutation_p.I1195V|MAST4_ENST00000404260.3_Missense_Mutation_p.I1377V|MAST4_ENST00000403666.1_Missense_Mutation_p.I1185V|MAST4_ENST00000261569.7_Missense_Mutation_p.I1180V	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1377						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGCCGGCAACATCCCACTGTC	0.682																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(4129-4131)Atc>Gtc		microtubule associated serine/threonine kinase family member 4							40.0	52.0	48.0					5																	66459127		2054	4173	6227	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66459127A>G	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.4120A>G	5.37:g.66459127A>G	ENSP00000385727:p.Ile1374Val					MAST4_ENST00000403625.2_Missense_Mutation_p.I1374V|MAST4_ENST00000405643.1_Missense_Mutation_p.I1195V|MAST4_ENST00000261569.7_Missense_Mutation_p.I1180V|MAST4_ENST00000403666.1_Missense_Mutation_p.I1185V	p.I1377V			O15021	MAST4_HUMAN		Lung(70;0.011)	29	4437	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1377					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.4129A>G	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.4|23.4	4.414463|4.414463	0.83449|0.83449	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.35421	.|1.31;1.31;1.31;1.31;1.31	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|0.172168	.|0.49305	.|D	.|0.000154	T|T	0.63379|0.63379	0.2506|0.2506	M|M	0.81802|0.81802	2.56|2.56	0.42271|0.42271	D|D	0.992058|0.992058	.|D;D	.|0.89917	.|0.992;1.0	.|D;D	.|0.87578	.|0.99;0.998	T|T	0.66590|0.66590	-0.5885|-0.5885	5|10	.|0.51188	.|T	.|0.08	-9.5464|-9.5464	16.3499|16.3499	0.83199|0.83199	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1377;1185	.|O15021;O15021-3	.|MAST4_HUMAN;.	R|V	430|1377;1374;1185;1195;1195;1180	.|ENSP00000385048:I1377V;ENSP00000385727:I1374V;ENSP00000384313:I1185V;ENSP00000384099:I1195V;ENSP00000261569:I1180V	.|ENSP00000261569:I1180V	H|I	+|+	2|1	0|0	MAST4|MAST4	66494883|66494883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.663000|0.663000	0.39108|0.39108	9.339000|9.339000	0.96797|0.96797	2.270000|2.270000	0.75569|0.75569	0.529000|0.529000	0.55759|0.55759	CAT|ATC		0.682	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			36	106	0	0	0	1	0	36	106				
CTLA4	1493	broad.mit.edu	37	2	204735498	204735498	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:204735498A>T	ENST00000302823.3	+	2	456	c.299A>T	c.(298-300)gAt>gTt	p.D100V	CTLA4_ENST00000487393.1_Intron|CTLA4_ENST00000472206.1_Intron|CTLA4_ENST00000295854.6_Missense_Mutation_p.D100V|CTLA4_ENST00000427473.2_Missense_Mutation_p.D63V	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	100	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|cellular response to DNA damage stimulus (GO:0006974)|immune response (GO:0006955)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of immune response (GO:0050777)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of apoptotic process (GO:0043065)|T cell costimulation (GO:0031295)	clathrin-coated endocytic vesicle (GO:0045334)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				large_intestine(4)|lung(4)|skin(1)	9					Ipilimumab(DB06186)	TTCCTAGATGATTCCATCTGC	0.552																																						ENST00000302823.3																			0				large_intestine(4)|lung(4)|skin(1)	9						c.(298-300)gAt>gTt		cytotoxic T-lymphocyte-associated protein 4	Abatacept(DB01281)						155.0	135.0	141.0					2																	204735498		2203	4300	6503	SO:0001583	missense	1493				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm		g.chr2:204735498A>T		CCDS2362.1, CCDS42803.1	2q33	2014-02-03			ENSG00000163599	ENSG00000163599		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	2505	protein-coding gene	gene with protein product		123890	"""celiac disease 3"", ""insulin-dependent diabetes mellitus 12"""	CELIAC3, IDDM12		3220103, 8817351	Standard	NM_005214		Approved	CD152, CD, GSE, CD28, ICOS	uc002vak.2	P16410	OTTHUMG00000132877	ENST00000302823.3:c.299A>T	2.37:g.204735498A>T	ENSP00000303939:p.Asp100Val					CTLA4_ENST00000427473.2_Missense_Mutation_p.D63V|CTLA4_ENST00000295854.6_Missense_Mutation_p.D100V|CTLA4_ENST00000472206.1_Intron|CTLA4_ENST00000487393.1_Intron	p.D100V	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN			2	456	+			100			Ig-like V-type.		A0N1S0|E9PDH0|O95653|Q0PP65|Q52MC1|Q53TD5|Q5S005|Q8WXJ1|Q96P43|Q9UKN9	Missense_Mutation	SNP	ENST00000302823.3	37	c.299A>T	CCDS2362.1	.	.	.	.	.	.	.	.	.	.	A	19.23	3.786975	0.70337	.	.	ENSG00000163599	ENST00000302823;ENST00000295854;ENST00000427473	T;T;T	0.43688	0.94;0.94;0.94	5.25	5.25	0.73442	Immunoglobulin V-set (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.313183	0.32624	N	0.005857	T	0.56848	0.2013	M	0.65975	2.015	0.42401	D	0.992566	P;P	0.42871	0.788;0.792	P;P	0.53912	0.737;0.68	T	0.58940	-0.7547	10	0.49607	T	0.09	-14.8206	14.3135	0.66432	1.0:0.0:0.0:0.0	.	100;100	Q8TDA6;P16410	.;CTLA4_HUMAN	V	100;100;63	ENSP00000303939:D100V;ENSP00000295854:D100V;ENSP00000409707:D63V	ENSP00000295854:D100V	D	+	2	0	CTLA4	204443743	0.995000	0.38212	0.839000	0.33178	0.943000	0.58893	4.539000	0.60657	1.977000	0.57605	0.482000	0.46254	GAT		0.552	CTLA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256365.1	NM_005214		38	119	0	0	0	1	0	38	119				
UST	10090	broad.mit.edu	37	6	149342555	149342555	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:149342555T>C	ENST00000367463.4	+	7	978	c.875T>C	c.(874-876)cTg>cCg	p.L292P		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	292					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GATGTGCTGCTGTTACTGGAA	0.458																																						ENST00000367463.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12						c.(874-876)cTg>cCg		uronyl-2-sulfotransferase							125.0	113.0	117.0					6																	149342555		2203	4300	6503	SO:0001583	missense	10090				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity	g.chr6:149342555T>C	AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.875T>C	6.37:g.149342555T>C	ENSP00000356433:p.Leu292Pro						p.L292P	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)	7	978	+		Ovarian(120;0.0907)	292					B2RCX6	Missense_Mutation	SNP	ENST00000367463.4	37	c.875T>C	CCDS5213.1	.	.	.	.	.	.	.	.	.	.	T	18.76	3.692886	0.68271	.	.	ENSG00000111962	ENST00000367463	T	0.73469	-0.75	5.42	5.42	0.78866	.	0.060312	0.64402	D	0.000002	T	0.69169	0.3081	L	0.47716	1.5	0.80722	D	1	P	0.40553	0.721	P	0.49887	0.625	T	0.68957	-0.5272	10	0.32370	T	0.25	-18.196	15.7495	0.77972	0.0:0.0:0.0:1.0	.	292	Q9Y2C2	UST_HUMAN	P	292	ENSP00000356433:L292P	ENSP00000356433:L292P	L	+	2	0	UST	149384248	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.253000	0.72453	2.184000	0.69523	0.455000	0.32223	CTG		0.458	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715		25	66	0	0	0	1	0	25	66				
MRPL47	57129	broad.mit.edu	37	3	179310503	179310503	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:179310503T>C	ENST00000476781.1	-	6	587	c.558A>G	c.(556-558)atA>atG	p.I186M	MRPL47_ENST00000259038.2_Missense_Mutation_p.I166M|MRPL47_ENST00000392659.2_Missense_Mutation_p.I76M	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	186					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			GGTGCCAAGGTATAACCCACT	0.343																																						ENST00000476781.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11						c.(556-558)atA>atG		mitochondrial ribosomal protein L47							104.0	95.0	98.0					3																	179310503		2203	4300	6503	SO:0001583	missense	57129				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr3:179310503T>C	AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"""Mitochondrial ribosomal proteins / large subunits"""	16652	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma metastasis-related 1"""	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.558A>G	3.37:g.179310503T>C	ENSP00000417602:p.Ile186Met					MRPL47_ENST00000259038.2_Missense_Mutation_p.I166M|MRPL47_ENST00000392659.2_Missense_Mutation_p.I76M	p.I186M	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		6	587	-	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		186					Q6XRG1|Q8N5D1	Missense_Mutation	SNP	ENST00000476781.1	37	c.558A>G	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.146519	0.37923	.	.	ENSG00000136522	ENST00000476781;ENST00000259038;ENST00000392659	T;T;T	0.52754	1.3;1.36;0.65	6.17	2.47	0.30058	.	0.101356	0.64402	D	0.000003	T	0.39091	0.1065	L	0.51422	1.61	0.42174	D	0.991659	B;B	0.26258	0.051;0.145	B;B	0.31812	0.136;0.101	T	0.15263	-1.0443	10	0.41790	T	0.15	-11.7985	5.1466	0.14989	0.0:0.1513:0.2903:0.5583	.	166;186	Q9HD33-2;Q9HD33	.;RM47_HUMAN	M	186;166;76	ENSP00000417602:I186M;ENSP00000259038:I166M;ENSP00000376427:I76M	ENSP00000259038:I166M	I	-	3	3	MRPL47	180793197	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.665000	0.25083	0.190000	0.20209	0.533000	0.62120	ATA		0.343	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409		8	27	0	0	0	1	0	8	27				
FAM161A	84140	broad.mit.edu	37	2	62066963	62066963	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:62066963T>C	ENST00000405894.3	-	3	1277	c.1176A>G	c.(1174-1176)ttA>ttG	p.L392L	FAM161A_ENST00000404929.1_Silent_p.L392L	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	392					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)		p.L283F(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGAGTTCTGTAAATGCTCCT	0.458																																						ENST00000404929.1																			1	Substitution - Missense(1)	p.L283F(1)	ovary(1)	breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1174-1176)ttA>ttG		family with sequence similarity 161, member A							97.0	97.0	97.0					2																	62066963		1969	4153	6122	SO:0001819	synonymous_variant	84140				response to stimulus|visual perception	centrosome		g.chr2:62066963T>C		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.1176A>G	2.37:g.62066963T>C						FAM161A_ENST00000405894.3_Silent_p.L392L	p.L392L	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN			3	1187	-			392					B4DJV7|Q9H8R2	Silent	SNP	ENST00000405894.3	37	c.1176A>G	CCDS42687.2																																																																																				0.458	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		21	67	0	0	0	1	0	21	67				
TRIM32	22954	broad.mit.edu	37	9	119461806	119461806	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:119461806T>C	ENST00000450136.1	+	2	1946	c.1785T>C	c.(1783-1785)agT>agC	p.S595S	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Silent_p.S595S|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	595					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CTGACAGTAGTCGCAAGGAAA	0.527																																					Esophageal Squamous(92;212 1916 19711 26951)	ENST00000450136.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1783-1785)agT>agC		tripartite motif containing 32							106.0	100.0	102.0					9																	119461806		2203	4300	6503	SO:0001819	synonymous_variant	22954				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119461806T>C	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1785T>C	9.37:g.119461806T>C						ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Silent_p.S595S	p.S595S	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN			2	1946	+			595					Q9NQP8	Silent	SNP	ENST00000450136.1	37	c.1785T>C	CCDS6817.1																																																																																				0.527	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		18	60	0	0	0	1	0	18	60				
BAI3	577	broad.mit.edu	37	6	70048869	70048869	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:70048869A>G	ENST00000370598.1	+	25	4071	c.3250A>G	c.(3250-3252)Aca>Gca	p.T1084A	BAI3_ENST00000238918.8_Missense_Mutation_p.T290A|BAI3_ENST00000546190.1_Missense_Mutation_p.T48A	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1084					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGTAGTTTCAACAACAGCTTT	0.418																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(3250-3252)Aca>Gca		brain-specific angiogenesis inhibitor 3							176.0	172.0	173.0					6																	70048869		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70048869A>G	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3250A>G	6.37:g.70048869A>G	ENSP00000359630:p.Thr1084Ala					BAI3_ENST00000238918.8_Missense_Mutation_p.T290A|BAI3_ENST00000546190.1_Missense_Mutation_p.T48A	p.T1084A	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			25	4071	+		all_lung(197;0.212)	1084					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3250A>G	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	A	18.02	3.530981	0.64972	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.42900	2.08;2.68;0.96	5.98	5.98	0.97165	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.29061	0.0722	N	0.16708	0.43	0.45762	D	0.998657	P;B;P	0.51147	0.942;0.409;0.677	P;B;B	0.54815	0.761;0.253;0.322	T	0.08186	-1.0734	10	0.22109	T	0.4	.	16.4781	0.84144	1.0:0.0:0.0:0.0	.	290;1084;1084	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	A	1084;290;48	ENSP00000359630:T1084A;ENSP00000238918:T290A;ENSP00000441821:T48A	ENSP00000238918:T290A	T	+	1	0	BAI3	70105590	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.113000	0.64640	2.288000	0.76882	0.528000	0.53228	ACA		0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			13	130	0	0	0	1	0	13	130				
MSMP	692094	broad.mit.edu	37	9	35753693	35753693	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35753693G>A	ENST00000436428.2	-	2	342	c.203C>T	c.(202-204)aCc>aTc	p.T68I	MSMP_ENST00000414286.1_5'UTR|RGP1_ENST00000378078.4_3'UTR	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	68						cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						ATGCAGACAGGTGCAATGGAA	0.522																																						ENST00000436428.2																			0				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						c.(202-204)aCc>aTc		microseminoprotein, prostate associated							46.0	47.0	47.0					9																	35753693		2105	4229	6334	SO:0001583	missense	692094					extracellular region		g.chr9:35753693G>A	DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882	ENST00000436428.2:c.203C>T	9.37:g.35753693G>A	ENSP00000419194:p.Thr68Ile					MSMP_ENST00000414286.1_5'UTR|RGP1_ENST00000378078.4_3'UTR	p.T68I	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN			2	342	-			68						Missense_Mutation	SNP	ENST00000436428.2	37	c.203C>T	CCDS43797.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685286	0.47991	.	.	ENSG00000215183	ENST00000436428	T	0.66995	-0.24	5.71	5.71	0.89125	.	0.392043	0.16178	U	0.225977	T	0.71753	0.3377	L	0.48642	1.525	0.43953	D	0.996623	P	0.45634	0.863	P	0.54210	0.745	T	0.72178	-0.4369	10	0.72032	D	0.01	-8.3018	12.3695	0.55246	0.0774:0.0:0.9226:0.0	.	68	Q1L6U9	MSMP_HUMAN	I	68	ENSP00000419194:T68I	ENSP00000419194:T68I	T	-	2	0	MSMP	35743693	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.585000	0.74062	2.686000	0.91538	0.655000	0.94253	ACC		0.522	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052384.2	NM_001044264		10	35	0	0	0	1	0	10	35				
CACNA1B	774	broad.mit.edu	37	9	140811791	140811791	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:140811791T>C	ENST00000371372.1	+	6	1019	c.874T>C	c.(874-876)Ttt>Ctt	p.F292L	CACNA1B_ENST00000371357.1_Missense_Mutation_p.F292L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.F292L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F292L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.F292L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	292					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.F292V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGACCCAACTTTGGCATCAC	0.582																																						ENST00000371372.1																			1	Substitution - Missense(1)	p.F292V(1)	lung(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(874-876)Ttt>Ctt		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						137.0	152.0	147.0					9																	140811791		2164	4278	6442	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140811791T>C	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.874T>C	9.37:g.140811791T>C	ENSP00000360423:p.Phe292Leu					CACNA1B_ENST00000371357.1_Missense_Mutation_p.F292L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.F292L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F292L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.F292L	p.F292L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	6	1019	+	all_cancers(76;0.166)		292					B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.874T>C	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.933915	0.34096	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95	4.86	4.86	0.63082	.	0.054941	0.64402	D	0.000001	D	0.96658	0.8909	L	0.61387	1.9	0.80722	D	1	P	0.34462	0.454	B	0.38156	0.266	D	0.95143	0.8265	10	0.26408	T	0.33	.	10.057	0.42250	0.1502:0.0:0.0:0.8498	.	292	B1AQK6	.	L	292	ENSP00000360423:F292L;ENSP00000277551:F292L;ENSP00000360414:F292L;ENSP00000360408:F292L;ENSP00000360406:F292L	ENSP00000277551:F292L	F	+	1	0	CACNA1B	139931612	1.000000	0.71417	0.993000	0.49108	0.810000	0.45777	4.990000	0.63876	1.935000	0.56089	0.533000	0.62120	TTT		0.582	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		37	106	0	0	0	1	0	37	106				
TM9SF3	56889	broad.mit.edu	37	10	98311121	98311121	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:98311121A>G	ENST00000371142.4	-	7	1056	c.840T>C	c.(838-840)gaT>gaC	p.D280D	TM9SF3_ENST00000490192.1_5'UTR	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	280						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		GTCTAAATACATCTCCATGCA	0.358																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(838-840)gaT>gaC		transmembrane 9 superfamily member 3							186.0	176.0	179.0					10																	98311121		2203	4300	6503	SO:0001819	synonymous_variant	56889					integral to membrane	binding	g.chr10:98311121A>G	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.840T>C	10.37:g.98311121A>G						TM9SF3_ENST00000490192.1_5'UTR	p.D280D	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	7	1056	-		Colorectal(252;0.158)	280					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Silent	SNP	ENST00000371142.4	37	c.840T>C	CCDS7450.1																																																																																				0.358	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		9	128	0	0	0	1	0	9	128				
DOCK3	1795	broad.mit.edu	37	3	51394560	51394560	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:51394560A>G	ENST00000266037.9	+	44	4694	c.4671A>G	c.(4669-4671)gcA>gcG	p.A1557A		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1557	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GAGGCATTGCACGCTATCAGG	0.517																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(4669-4671)gcA>gcG		dedicator of cytokinesis 3							98.0	92.0	94.0					3																	51394560		2064	4225	6289	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51394560A>G	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4671A>G	3.37:g.51394560A>G							p.A1557A	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	44	4694	+			1557			DHR-2.		O15017	Silent	SNP	ENST00000266037.9	37	c.4671A>G	CCDS46835.1																																																																																				0.517	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		30	133	0	0	0	1	0	30	133				
NFASC	23114	broad.mit.edu	37	1	204957844	204957844	+	Missense_Mutation	SNP	G	G	A	rs377519786		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:204957844G>A	ENST00000401399.1	+	22	2876	c.2677G>A	c.(2677-2679)Gtg>Atg	p.V893M	NFASC_ENST00000404076.1_Missense_Mutation_p.V979M|NFASC_ENST00000513543.1_Missense_Mutation_p.V996M|NFASC_ENST00000367171.4_Missense_Mutation_p.V985M|NFASC_ENST00000338586.6_Missense_Mutation_p.V1000M|NFASC_ENST00000539706.1_Missense_Mutation_p.V996M|NFASC_ENST00000360049.4_Missense_Mutation_p.V996M|NFASC_ENST00000367169.4_Missense_Mutation_p.V893M|NFASC_ENST00000367170.4_Missense_Mutation_p.V1000M|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000339876.6_Missense_Mutation_p.V893M|NFASC_ENST00000367172.4_Missense_Mutation_p.V1000M|NFASC_ENST00000338515.6_Missense_Mutation_p.V1000M|NFASC_ENST00000404907.1_Missense_Mutation_p.V996M			O94856	NFASC_HUMAN	neurofascin	901	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AACGGACCCCGTGTCACGCTA	0.562																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(2998-3000)Gtg>Atg		neurofascin		G	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	103.0	93.0	97.0		2677,3031,2986,2986	5.6	1.0	1		97	0,8600		0,0,4300	no	missense,missense,missense,missense	NFASC	NM_001005388.2,NM_001160331.1,NM_001160332.1,NM_015090.3	21,21,21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	893/1241,1011/1190,996/1175,996/1170	204957844	1,13005	2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204957844G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2677G>A	1.37:g.204957844G>A	ENSP00000385637:p.Val893Met					NFASC_ENST00000338586.6_Missense_Mutation_p.V1000M|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000339876.6_Missense_Mutation_p.V893M|NFASC_ENST00000404907.1_Missense_Mutation_p.V996M|NFASC_ENST00000539706.1_Missense_Mutation_p.V996M|NFASC_ENST00000401399.1_Missense_Mutation_p.V893M|NFASC_ENST00000360049.4_Missense_Mutation_p.V996M|NFASC_ENST00000367170.4_Missense_Mutation_p.V1000M|NFASC_ENST00000404076.1_Missense_Mutation_p.V979M|NFASC_ENST00000513543.1_Missense_Mutation_p.V996M|NFASC_ENST00000367171.4_Missense_Mutation_p.V985M|NFASC_ENST00000367169.4_Missense_Mutation_p.V893M|NFASC_ENST00000338515.6_Missense_Mutation_p.V1000M	p.V1000M			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		25	3326	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		1000			Fibronectin type-III 4.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.2998G>A	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.94|14.94	2.685182|2.685182	0.47991|0.47991	2.27E-4|2.27E-4	0.0|0.0	ENSG00000163531|ENSG00000163531	ENST00000413225|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.57107	.|0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.57|5.57	5.57|5.57	0.84162|0.84162	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.171830	.|0.28001	.|N	.|0.016991	T|T	0.62696|0.62696	0.2449|0.2449	L|L	0.54323|0.54323	1.7|1.7	0.18873|0.18873	N|N	0.999981|0.999981	.|D;D;D;D;D;P;D;D;P	.|0.69078	.|0.996;0.963;0.973;0.995;0.963;0.634;0.995;0.997;0.948	.|P;B;P;P;P;B;P;P;P	.|0.61328	.|0.608;0.439;0.609;0.801;0.635;0.356;0.473;0.887;0.609	T|T	0.57745|0.57745	-0.7758|-0.7758	5|10	.|0.49607	.|T	.|0.09	.|.	10.9886|10.9886	0.47537|0.47537	0.1179:0.0:0.8821:0.0|0.1179:0.0:0.8821:0.0	.|.	.|1000;1011;996;1000;1000;893;985;893;996	.|O94856;O94856-11;O94856-8;O94856-7;F8W8X7;O94856-4;F8W791;O94856-9;O94856-3	.|NFASC_HUMAN;.;.;.;.;.;.;.;.	H|M	18|1000;985;1000;1000;893;1000;1011;996;996;893;979;893;996;996;987	.|ENSP00000356140:V1000M;ENSP00000356139:V985M;ENSP00000356138:V1000M;ENSP00000342128:V1000M;ENSP00000344786:V893M;ENSP00000343509:V1000M;ENSP00000438614:V996M;ENSP00000353154:V996M;ENSP00000356137:V893M;ENSP00000385676:V979M;ENSP00000385637:V893M;ENSP00000384061:V996M;ENSP00000425908:V996M;ENSP00000415031:V987M	.|ENSP00000295776:V1011M	R|V	+|+	2|1	0|0	NFASC|NFASC	203224467|203224467	0.999000|0.999000	0.42202|0.42202	0.972000|0.972000	0.41901|0.41901	0.398000|0.398000	0.30690|0.30690	3.175000|3.175000	0.50855|0.50855	2.600000|2.600000	0.87896|0.87896	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.562	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		33	97	0	0	0	1	0	33	97				
OSCAR	126014	broad.mit.edu	37	19	54598534	54598534	+	3'UTR	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54598534A>G	ENST00000284648.6	-	0	1455				OSCAR_ENST00000351806.4_Silent_p.T237T|OSCAR_ENST00000391761.1_3'UTR|OSCAR_ENST00000356532.3_Silent_p.T252T|OSCAR_ENST00000358375.4_Silent_p.T248T|OSCAR_ENST00000359649.4_3'UTR			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GCCAGTCAAAAGTGACCAGCG	0.677																																						ENST00000358375.4																			0				large_intestine(1)|skin(1)	2						c.(742-744)acT>acC		osteoclast associated, immunoglobulin-like receptor							21.0	24.0	23.0					19																	54598534		2203	4299	6502	SO:0001624	3_prime_UTR_variant	126014					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr19:54598534A>G	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.*409T>C	19.37:g.54598534A>G						OSCAR_ENST00000391761.1_3'UTR|OSCAR_ENST00000356532.3_Silent_p.T252T|OSCAR_ENST00000359649.4_3'UTR|OSCAR_ENST00000351806.4_Silent_p.T237T|OSCAR_ENST00000284648.6_3'UTR	p.T248T	NM_133169.3	NP_573399.1	Q8IYS5	OSCAR_HUMAN			5	789	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		0					B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Silent	SNP	ENST00000284648.6	37	c.744T>C																																																																																					0.677	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4	NM_133169		7	23	0	0	0	1	0	7	23				
MSS51	118490	broad.mit.edu	37	10	75187958	75187958	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:75187958T>G	ENST00000372912.1	-	1	87	c.85A>C	c.(85-87)Acc>Ccc	p.T29P	MSS51_ENST00000299432.2_Missense_Mutation_p.T29P|AL353731.1_ENST00000584907.1_RNA			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	29					social behavior (GO:0035176)		metal ion binding (GO:0046872)										GGCACAGGGGTCACAATTGTG	0.557																																						ENST00000299432.2																			0											c.(85-87)Acc>Ccc		MSS51 mitochondrial translational activator							125.0	127.0	126.0					10																	75187958		2203	4300	6503	SO:0001583	missense	118490						zinc ion binding	g.chr10:75187958T>G	AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"""Zinc fingers, MYND-type"""	21000	protein-coding gene	gene with protein product		614773	"""zinc finger, MYND-type containing 17"", ""MSS51 mitochondrial translational activator homolog (S. cerevisiae)"""	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.85A>C	10.37:g.75187958T>G	ENSP00000362003:p.Thr29Pro					MSS51_ENST00000372912.1_Missense_Mutation_p.T29P	p.T29P	NM_001024593.1	NP_001019764.1	Q4VC12	ZMY17_HUMAN			2	150	-			29					A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Missense_Mutation	SNP	ENST00000372912.1	37	c.85A>C	CCDS31221.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.529594	0.44969	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	T;T	0.48201	0.82;0.82	4.97	1.02	0.19986	.	0.670270	0.15311	N	0.269073	T	0.27832	0.0685	L	0.29908	0.895	0.20926	N	0.99983	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.12941	-1.0528	10	0.38643	T	0.18	-1.0058	1.3812	0.02230	0.1845:0.0982:0.1771:0.5402	.	29;29	Q4VC12;F6VAV3	ZMY17_HUMAN;.	P	29	ENSP00000299432:T29P;ENSP00000362003:T29P	ENSP00000299432:T29P	T	-	1	0	ZMYND17	74857964	0.988000	0.35896	0.147000	0.22382	0.259000	0.26198	0.390000	0.20768	0.430000	0.26230	0.459000	0.35465	ACC		0.557	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3	NM_178451		6	82	0	0	0	1	0	6	82				
TANGO6	79613	broad.mit.edu	37	16	68961841	68961841	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:68961841G>A	ENST00000261778.1	+	13	2510	c.2498G>A	c.(2497-2499)aGc>aAc	p.S833N	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	833						integral component of membrane (GO:0016021)											AAATCTGGAAGCGTAACCACA	0.512																																						ENST00000261778.1																			0											c.(2497-2499)aGc>aAc		transport and golgi organization 6 homolog (Drosophila)							58.0	60.0	60.0					16																	68961841		1966	4160	6126	SO:0001583	missense	79613							g.chr16:68961841G>A		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2498G>A	16.37:g.68961841G>A	ENSP00000261778:p.Ser833Asn					RP11-521L9.1_ENST00000562790.1_lincRNA	p.S833N	NM_024562.1	NP_078838.1					13	2510	+								Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.2498G>A	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	2.010	-0.427226	0.04701	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.37	3.39	0.38822	Armadillo-type fold (1);	0.571017	0.20954	N	0.082685	T	0.23965	0.0580	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19745	-1.0296	9	0.15952	T	0.53	-1.4016	8.3139	0.32088	0.1456:0.1285:0.7259:0.0	.	833	Q9C0B7	TMCO7_HUMAN	N	833	.	ENSP00000261778:S833N	S	+	2	0	TMCO7	67519342	0.022000	0.18835	0.007000	0.13788	0.283000	0.27025	1.595000	0.36708	0.629000	0.30376	0.655000	0.94253	AGC		0.512	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		7	32	0	0	0	1	0	7	32				
CHRNA10	57053	broad.mit.edu	37	11	3688681	3688681	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:3688681C>T	ENST00000250699.2	-	4	747	c.676G>A	c.(676-678)Gtc>Atc	p.V226I	CHRNA10_ENST00000493827.2_5'Flank|CHRNA10_ENST00000534359.1_Silent_p.T43T|Y_RNA_ENST00000363331.1_RNA	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	226					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	GTGAAGGTGACGTCGGGGTAG	0.716																																					Melanoma(153;17 1869 2949 7120 36888)	ENST00000250699.2																			0				breast(1)|endometrium(2)|lung(3)|ovary(1)	7						c.(676-678)Gtc>Atc		cholinergic receptor, nicotinic, alpha 10 (neuronal)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						15.0	18.0	17.0					11																	3688681		2167	4255	6422	SO:0001583	missense	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3688681C>T	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.676G>A	11.37:g.3688681C>T	ENSP00000250699:p.Val226Ile					CHRNA10_ENST00000534359.1_Silent_p.T43T	p.V226I	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	747	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	226						Missense_Mutation	SNP	ENST00000250699.2	37	c.676G>A	CCDS7745.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423739	0.25639	.	.	ENSG00000129749	ENST00000250699	T	0.79352	-1.26	5.33	4.42	0.53409	Neurotransmitter-gated ion-channel ligand-binding (3);	0.335375	0.22197	N	0.063287	T	0.65260	0.2674	N	0.17248	0.465	0.80722	D	1	P	0.50528	0.936	P	0.48815	0.591	T	0.64153	-0.6474	10	0.02654	T	1	.	12.6277	0.56638	0.0:0.919:0.0:0.081	.	226	Q9GZZ6	ACH10_HUMAN	I	226	ENSP00000250699:V226I	ENSP00000250699:V226I	V	-	1	0	CHRNA10	3645257	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	2.315000	0.43752	1.249000	0.43950	0.561000	0.74099	GTC		0.716	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2			4	32	0	0	0	1	0	4	32				
SLC25A35	399512	broad.mit.edu	37	17	8197893	8197893	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:8197893C>T	ENST00000577745.1	-	1	743	c.233G>A	c.(232-234)gGc>gAc	p.G78D	SLC25A35_ENST00000579192.1_Missense_Mutation_p.G78D|SLC25A35_ENST00000580340.1_Missense_Mutation_p.G78D|SLC25A35_ENST00000380067.2_Missense_Mutation_p.G78D|SLC25A35_ENST00000396278.1_Missense_Mutation_p.G78D			Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	78					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(2)|large_intestine(2)|lung(2)	6						CAGTCGGATGCCATTCATCAG	0.632																																						ENST00000380067.2																			0				breast(2)|large_intestine(2)|lung(2)	6						c.(232-234)gGc>gAc		solute carrier family 25, member 35							49.0	47.0	48.0					17																	8197893		2203	4300	6503	SO:0001583	missense	399512				transport	integral to membrane|mitochondrial inner membrane		g.chr17:8197893C>T	AY498866	CCDS11138.1	17p13.1	2013-05-22			ENSG00000125434	ENSG00000125434		"""Solute carriers"""	31921	protein-coding gene	gene with protein product		610818					Standard	NM_201520		Approved	FLJ40217	uc002gku.1	Q3KQZ1		ENST00000577745.1:c.233G>A	17.37:g.8197893C>T	ENSP00000464231:p.Gly78Asp					SLC25A35_ENST00000579192.1_Missense_Mutation_p.G78D|SLC25A35_ENST00000577745.1_Missense_Mutation_p.G78D|SLC25A35_ENST00000396278.1_Missense_Mutation_p.G78D|SLC25A35_ENST00000580340.1_Missense_Mutation_p.G78D	p.G78D	NM_201520.1	NP_958928.1	Q3KQZ1	S2535_HUMAN			1	277	-			78					Q494X5|Q6RGS3|Q8N7Y5	Missense_Mutation	SNP	ENST00000577745.1	37	c.233G>A		.	.	.	.	.	.	.	.	.	.	C	16.07	3.019329	0.54576	.	.	ENSG00000125434	ENST00000380067;ENST00000396278	T;T	0.80480	-1.38;-1.38	5.39	5.39	0.77823	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93275	0.7857	H	0.97186	3.955	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95200	0.8316	10	0.72032	D	0.01	-8.3578	16.6955	0.85334	0.0:1.0:0.0:0.0	.	78;78	Q3KQZ1;Q3KQZ1-4	S2535_HUMAN;.	D	78	ENSP00000369407:G78D;ENSP00000379574:G78D	ENSP00000369407:G78D	G	-	2	0	SLC25A35	8138618	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.029000	0.76477	2.541000	0.85698	0.450000	0.29827	GGC		0.632	SLC25A35-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442146.1	NM_201520		12	68	0	0	0	1	0	12	68				
MDN1	23195	broad.mit.edu	37	6	90482396	90482396	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:90482396A>G	ENST00000369393.3	-	14	2094	c.1979T>C	c.(1978-1980)aTc>aCc	p.I660T	MDN1_ENST00000428876.1_Missense_Mutation_p.I660T			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	660			I -> V (in dbSNP:rs12110451).		ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGCTGCTCGATGAGAACAGA	0.507																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(1978-1980)aTc>aCc		MDN1, midasin homolog (yeast)							107.0	110.0	109.0					6																	90482396		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90482396A>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1979T>C	6.37:g.90482396A>G	ENSP00000358400:p.Ile660Thr					MDN1_ENST00000428876.1_Missense_Mutation_p.I660T	p.I660T			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	14	2094	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	660		I -> V (in dbSNP:rs12110451).			O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.1979T>C	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682703	0.47991	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.45668	0.89;0.89;0.89	5.65	5.65	0.86999	.	0.212692	0.41605	D	0.000848	T	0.25158	0.0611	L	0.49256	1.55	0.40437	D	0.980001	B;P	0.42649	0.286;0.786	B;B	0.34873	0.091;0.191	T	0.23691	-1.0181	10	0.87932	D	0	.	15.5314	0.75964	1.0:0.0:0.0:0.0	.	587;660	Q5T795;Q9NU22	.;MDN1_HUMAN	T	660;660;587	ENSP00000358400:I660T;ENSP00000413970:I660T;ENSP00000409664:I587T	ENSP00000358400:I660T	I	-	2	0	MDN1	90539117	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.920000	0.92779	2.152000	0.67230	0.528000	0.53228	ATC		0.507	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			27	126	0	0	0	1	0	27	126				
SLC39A9	55334	broad.mit.edu	37	14	69866167	69866167	+	Silent	SNP	T	T	A	rs111934367		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:69866167T>A	ENST00000336643.5	+	1	759	c.81T>A	c.(79-81)gcT>gcA	p.A27A	SLC39A9_ENST00000555245.1_Intron|SLC39A9_ENST00000556605.1_Silent_p.A27A|ERH_ENST00000555373.1_5'Flank|SLC39A9_ENST00000557046.1_Silent_p.A27A|SLC39A9_ENST00000031146.4_Silent_p.A27A|ERH_ENST00000216520.6_5'Flank|ERH_ENST00000557016.1_5'Flank	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	27					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TTCCCTTGGCTGTTAATTTCT	0.448																																						ENST00000031146.4																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						c.(79-81)gcT>gcA		solute carrier family 39, member 9							191.0	173.0	179.0					14																	69866167		2203	4300	6503	SO:0001819	synonymous_variant	55334				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr14:69866167T>A		CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"""Solute carriers"""	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.81T>A	14.37:g.69866167T>A						SLC39A9_ENST00000555245.1_Intron|SLC39A9_ENST00000556605.1_Silent_p.A27A|SLC39A9_ENST00000557046.1_Silent_p.A27A|SLC39A9_ENST00000336643.5_Silent_p.A27A	p.A27A			Q9NUM3	S39A9_HUMAN		all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)	1	759	+			27					G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Silent	SNP	ENST00000336643.5	37	c.81T>A	CCDS9795.1																																																																																				0.448	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375		11	24	0	0	0	1	0	11	24				
ERBB2IP	55914	broad.mit.edu	37	5	65309448	65309448	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:65309448T>C	ENST00000284037.5	+	6	847	c.458T>C	c.(457-459)tTg>tCg	p.L153S	ERBB2IP_ENST00000508515.1_Missense_Mutation_p.L153S|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.L153S|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.L153S|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.L153S|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.L153S|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.L153S|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.L153S|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.L153S|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.L153S	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	153					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CTTGAGTTCTTGCCAGCAAAT	0.333																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(457-459)tTg>tCg		erbb2 interacting protein							140.0	143.0	142.0					5																	65309448		2203	4300	6503	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65309448T>C		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.458T>C	5.37:g.65309448T>C	ENSP00000284037:p.Leu153Ser					ERBB2IP_ENST00000380936.1_Missense_Mutation_p.L153S|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.L153S|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.L153S|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.L153S|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.L153S|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.L153S|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.L153S|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.L153S|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.L153S	p.L153S	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	6	847	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	153					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.458T>C	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298891	0.81025	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	H	0.98507	4.25	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.998;0.999;0.993;0.997;1.0;0.999	D	0.85468	0.1171	10	0.87932	D	0	.	15.436	0.75146	0.0:0.0:0.0:1.0	.	153;153;153;153;153;153;153;153	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	S	153	ENSP00000284037:L153S;ENSP00000370330:L153S;ENSP00000397833:L153S;ENSP00000370326:L153S;ENSP00000370323:L153S;ENSP00000370322:L153S;ENSP00000370325:L153S;ENSP00000422766:L153S;ENSP00000426632:L153S;ENSP00000422015:L153S	ENSP00000284037:L153S	L	+	2	0	ERBB2IP	65345204	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.719000	0.74718	2.285000	0.76669	0.477000	0.44152	TTG		0.333	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		18	89	0	0	0	1	0	18	89				
CCT4	10575	broad.mit.edu	37	2	62099690	62099690	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:62099690T>C	ENST00000394440.3	-	11	1455	c.1159A>G	c.(1159-1161)Aca>Gca	p.T387A	AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Missense_Mutation_p.T357A|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000538252.1_Missense_Mutation_p.T331A|CCT4_ENST00000544185.1_Missense_Mutation_p.T237A	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	387					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.T387A(1)		breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			ACAACAATTGTAACTGTTTTT	0.428																																						ENST00000394440.3																			1	Substitution - Missense(1)	p.T387A(1)	large_intestine(1)	breast(1)|large_intestine(2)|lung(6)|ovary(2)	11						c.(1159-1161)Aca>Gca		chaperonin containing TCP1, subunit 4 (delta)							72.0	68.0	69.0					2																	62099690		2203	4300	6503	SO:0001583	missense	10575				'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	g.chr2:62099690T>C		CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"""Heat Shock Proteins / Chaperonins"""	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1159A>G	2.37:g.62099690T>C	ENSP00000377958:p.Thr387Ala					CCT4_ENST00000461540.2_Intron|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000538252.1_Missense_Mutation_p.T331A|CCT4_ENST00000544079.1_Missense_Mutation_p.T357A|CCT4_ENST00000544185.1_Missense_Mutation_p.T237A	p.T387A	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)		11	1455	-	Lung NSC(7;0.035)|all_lung(7;0.0691)		387					B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Missense_Mutation	SNP	ENST00000394440.3	37	c.1159A>G	CCDS33206.1	.	.	.	.	.	.	.	.	.	.	T	19.39	3.818328	0.71028	.	.	ENSG00000115484	ENST00000394440;ENST00000544079;ENST00000544185;ENST00000538252	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.87	5.87	0.94306	.	0.041854	0.85682	D	0.000000	D	0.88680	0.6502	H	0.97291	3.975	0.54753	D	0.999989	B;B	0.18741	0.029;0.03	B;B	0.25759	0.063;0.046	D	0.87864	0.2666	10	0.87932	D	0	-15.0909	16.2496	0.82475	0.0:0.0:0.0:1.0	.	357;387	F5H5W3;P50991	.;TCPD_HUMAN	A	387;357;237;331	ENSP00000377958:T387A;ENSP00000443061:T357A;ENSP00000443451:T237A;ENSP00000442174:T331A	ENSP00000377958:T387A	T	-	1	0	CCT4	61953194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.881000	0.87252	2.371000	0.80710	0.533000	0.62120	ACA		0.428	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			24	78	0	0	0	1	0	24	78				
IRAK4	51135	broad.mit.edu	37	12	44180497	44180497	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:44180497G>A	ENST00000448290.2	+	12	1433	c.1362G>A	c.(1360-1362)ctG>ctA	p.L454L	IRAK4_ENST00000551736.1_Silent_p.L454L|IRAK4_ENST00000431837.1_Silent_p.L330L|IRAK4_ENST00000440781.2_Silent_p.L330L	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	454	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		AACAGCTGCTGCAAGAGATGA	0.299																																						ENST00000431837.1																			0											c.(988-990)ctG>ctA		interleukin-1 receptor-associated kinase 4							57.0	64.0	62.0					12																	44180497		2202	4299	6501	SO:0001819	synonymous_variant	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44180497G>A	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.1362G>A	12.37:g.44180497G>A						IRAK4_ENST00000448290.2_Silent_p.L454L|IRAK4_ENST00000440781.2_Silent_p.L330L|IRAK4_ENST00000551736.1_Silent_p.L454L	p.L330L	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	11	1298	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	454			Protein kinase.		Q69FE1|Q8TDF7|Q9Y589	Silent	SNP	ENST00000448290.2	37	c.990G>A	CCDS8744.1																																																																																				0.299	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			14	58	0	0	0	1	0	14	58				
ROCK2	9475	broad.mit.edu	37	2	11354567	11354567	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:11354567T>C	ENST00000315872.6	-	17	2407	c.1959A>G	c.(1957-1959)gaA>gaG	p.E653E	ROCK2_ENST00000401753.1_Silent_p.E410E	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	653	Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCTTTAAATCTTCTTCTAGGC	0.313																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(1957-1959)gaA>gaG		Rho-associated, coiled-coil containing protein kinase 2							105.0	95.0	98.0					2																	11354567		1799	4064	5863	SO:0001819	synonymous_variant	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11354567T>C	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.1959A>G	2.37:g.11354567T>C						ROCK2_ENST00000401753.1_Silent_p.E410E	p.E653E	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	17	2407	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		653			Interaction with PPP1R12A.		Q53QZ0|Q53SJ7|Q9UQN5	Silent	SNP	ENST00000315872.6	37	c.1959A>G	CCDS42654.1																																																																																				0.313	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			13	41	0	0	0	1	0	13	41				
EHMT1	79813	broad.mit.edu	37	9	140705943	140705943	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:140705943T>C	ENST00000460843.1	+	19	2770	c.2743T>C	c.(2743-2745)Ttc>Ctc	p.F915L		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	915					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTGGGCGGCGTTCTCCGGCTG	0.637																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2743-2745)Ttc>Ctc		euchromatic histone-lysine N-methyltransferase 1							63.0	58.0	60.0					9																	140705943		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140705943T>C	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2743T>C	9.37:g.140705943T>C	ENSP00000417980:p.Phe915Leu						p.F915L	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	19	2770	+	all_cancers(76;0.164)		915					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.2743T>C	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755458	0.69648	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	T	0.63744	-0.06	5.47	5.47	0.80525	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.50103	0.1596	N	0.11789	0.175	0.80722	D	1	P	0.44946	0.846	P	0.44647	0.456	T	0.54609	-0.8268	10	0.40728	T	0.16	.	15.8413	0.78848	0.0:0.0:0.0:1.0	.	915	Q9H9B1	EHMT1_HUMAN	L	884;915	ENSP00000417980:F915L	ENSP00000360453:F884L	F	+	1	0	EHMT1	139825764	1.000000	0.71417	0.444000	0.26895	0.780000	0.44128	5.036000	0.64164	2.202000	0.70862	0.533000	0.62120	TTC		0.637	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		32	68	0	0	0	1	0	32	68				
DLGAP5	9787	broad.mit.edu	37	14	55649131	55649131	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:55649131C>T	ENST00000247191.2	-	4	668	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	DLGAP5_ENST00000395425.2_Missense_Mutation_p.R151Q	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	151					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CCTTGTAATCCGTACAGAAGA	0.313																																						ENST00000247191.2																			0				biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(451-453)cGg>cAg		discs, large (Drosophila) homolog-associated protein 5							180.0	169.0	173.0					14																	55649131		2203	4300	6503	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55649131C>T	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.452G>A	14.37:g.55649131C>T	ENSP00000247191:p.Arg151Gln					DLGAP5_ENST00000395425.2_Missense_Mutation_p.R151Q	p.R151Q	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN			4	668	-			151					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.452G>A	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389584	0.61956	.	.	ENSG00000126787	ENST00000395425;ENST00000247191;ENST00000557645	T;T;T	0.15372	2.43;2.43;2.43	4.98	4.09	0.47781	.	1.237920	0.05504	N	0.558951	T	0.43897	0.1268	M	0.74258	2.255	0.44402	D	0.997314	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.945	T	0.00899	-1.1522	10	0.59425	D	0.04	.	9.6922	0.40136	0.0:0.9018:0.0:0.0982	.	151;151	A8MTM6;Q15398	.;DLGP5_HUMAN	Q	151	ENSP00000378815:R151Q;ENSP00000247191:R151Q;ENSP00000451747:R151Q	ENSP00000247191:R151Q	R	-	2	0	DLGAP5	54718884	0.909000	0.30893	0.793000	0.32043	0.615000	0.37417	1.848000	0.39309	1.236000	0.43740	0.491000	0.48974	CGG		0.313	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		32	102	0	0	0	1	0	32	102				
MBD3	53615	broad.mit.edu	37	19	1585075	1585075	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1585075G>A	ENST00000434436.3	-	2	378	c.249C>T	c.(247-249)taC>taT	p.Y83Y	MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000592012.1_Silent_p.Y51Y|UQCR11_ENST00000585937.1_3'UTR|AC005943.4_ENST00000592406.1_RNA|MBD3_ENST00000156825.1_Silent_p.Y83Y|MBD3_ENST00000590550.2_Silent_p.Y27Y	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	83					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGGAGTCGTAGCGCACGC	0.662																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(79-81)taC>taT		methyl-CpG binding domain protein 3							85.0	56.0	66.0					19																	1585075		2203	4300	6503	SO:0001819	synonymous_variant	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1585075G>A	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.249C>T	19.37:g.1585075G>A						MBD3_ENST00000592012.1_Silent_p.Y51Y|MBD3_ENST00000434436.3_Silent_p.Y83Y|MBD3_ENST00000156825.1_Silent_p.Y83Y|MBD3_ENST00000585967.1_5'UTR	p.Y27Y			O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	1	454	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	83			MBD.		A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Silent	SNP	ENST00000434436.3	37	c.81C>T	CCDS12072.1																																																																																				0.662	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		16	40	0	0	0	1	0	16	40				
SPATA6L	55064	broad.mit.edu	37	9	4625426	4625426	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:4625426A>G	ENST00000454239.2	-	7	815	c.570T>C	c.(568-570)taT>taC	p.Y190Y	SPATA6L_ENST00000381895.5_Silent_p.Y67Y|SPATA6L_ENST00000223517.5_5'UTR|SPATA6L_ENST00000381890.5_Silent_p.Y204Y|SPATA6L_ENST00000475086.1_Silent_p.Y132Y			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	190																	GCCTGGTAGAATATTGAGAGG	0.428																																						ENST00000454239.2																			0											c.(568-570)taT>taC		spermatogenesis associated 6-like							68.0	69.0	69.0					9																	4625426		1838	4084	5922	SO:0001819	synonymous_variant	55064							g.chr9:4625426A>G	AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.570T>C	9.37:g.4625426A>G						SPATA6L_ENST00000381895.5_Silent_p.Y67Y|SPATA6L_ENST00000475086.1_Silent_p.Y132Y|SPATA6L_ENST00000223517.5_5'UTR|SPATA6L_ENST00000381890.5_Silent_p.Y204Y	p.Y190Y			B4DIY4	B4DIY4_HUMAN			7	815	-			132					B4DIY4|Q5JVJ5|Q8IY90	Silent	SNP	ENST00000454239.2	37	c.570T>C																																																																																					0.428	SPATA6L-202	KNOWN	basic	protein_coding	protein_coding		NM_017985		5	72	0	0	0	1	0	5	72				
ZC3H3	23144	broad.mit.edu	37	8	144523233	144523233	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:144523233G>A	ENST00000262577.5	-	10	2396	c.2365C>T	c.(2365-2367)Cgc>Tgc	p.R789C		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	789					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TGGGCGCCGCGGGGACACGCC	0.711																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2365-2367)Cgc>Tgc		zinc finger CCCH-type containing 3							9.0	12.0	11.0					8																	144523233		2145	4195	6340	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144523233G>A	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2365C>T	8.37:g.144523233G>A	ENSP00000262577:p.Arg789Cys						p.R789C	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		10	2396	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		789					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.2365C>T	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670672	0.47781	.	.	ENSG00000014164	ENST00000262577	T	0.51071	0.72	4.76	2.72	0.32119	Zinc finger, CCCH-type (3);	0.634983	0.16034	N	0.232720	T	0.65417	0.2689	M	0.82323	2.585	0.42567	D	0.993162	D	0.89917	1.0	D	0.79784	0.993	T	0.65672	-0.6111	10	0.87932	D	0	-5.6707	5.3983	0.16281	0.1112:0.0:0.4868:0.4019	.	789	Q8IXZ2	ZC3H3_HUMAN	C	789	ENSP00000262577:R789C	ENSP00000262577:R789C	R	-	1	0	ZC3H3	144594376	0.976000	0.34144	0.630000	0.29268	0.254000	0.26022	2.276000	0.43408	0.988000	0.38734	0.563000	0.77884	CGC		0.711	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		7	18	0	0	0	1	0	7	18				
DNAH17	8632	broad.mit.edu	37	17	76491108	76491108	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:76491108T>C	ENST00000585328.1	-	39	6084	c.5960A>G	c.(5959-5961)gAa>gGa	p.E1987G	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000389840.5_Missense_Mutation_p.E1978G|RP11-559N14.5_ENST00000585969.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1978	AAA 1. {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)			AAGGCGGGCTTCCAGAAAGCC	0.607																																						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.(5932-5934)gAa>gGa		dynein, axonemal, heavy chain 17							35.0	43.0	40.0					17																	76491108		2045	4194	6239	SO:0001583	missense	8632							g.chr17:76491108T>C	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.5960A>G	17.37:g.76491108T>C	ENSP00000465516:p.Glu1987Gly					DNAH17_ENST00000585328.1_Missense_Mutation_p.E1987G|RP11-559N14.5_ENST00000591373.1_RNA	p.E1978G					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		39	6057	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.5933A>G		.	.	.	.	.	.	.	.	.	.	T	14.41	2.526432	0.44969	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.12255	2.7	3.77	2.65	0.31530	.	.	.	.	.	T	0.25044	0.0608	M	0.76002	2.32	0.28980	N	0.888694	.	.	.	.	.	.	T	0.06373	-1.0830	7	0.52906	T	0.07	.	9.1066	0.36701	0.0:0.091:0.0:0.909	.	.	.	.	G	1987;1978	ENSP00000374490:E1978G	ENSP00000300671:E1987G	E	-	2	0	DNAH17	74002703	1.000000	0.71417	0.707000	0.30419	0.817000	0.46193	5.892000	0.69790	0.488000	0.27723	0.414000	0.27820	GAA		0.607	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		3	23	0	0	0	1	0	3	23				
CHD7	55636	broad.mit.edu	37	8	61778301	61778301	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:61778301G>A	ENST00000423902.2	+	38	9282	c.8803G>A	c.(8803-8805)Gaa>Aaa	p.E2935K	CHD7_ENST00000524602.1_Missense_Mutation_p.E886K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2935					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGGCTCCAGCGAAGAAAAGGC	0.567																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123	GRCh37	CM090042	CHD7	M		c.(8803-8805)Gaa>Aaa		chromodomain helicase DNA binding protein 7							45.0	47.0	46.0					8																	61778301		1959	4149	6108	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61778301G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8803G>A	8.37:g.61778301G>A	ENSP00000392028:p.Glu2935Lys					CHD7_ENST00000524602.1_Missense_Mutation_p.E886K	p.E2935K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		38	9282	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2935					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.8803G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	3.626	-0.076477	0.07184	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602	T;T	0.81078	-1.45;2.08	4.64	4.64	0.57946	.	0.134298	0.32918	N	0.005493	T	0.65165	0.2665	N	0.22421	0.69	0.44447	D	0.997371	P	0.38370	0.628	B	0.25140	0.058	T	0.65977	-0.6037	10	0.18276	T	0.48	-12.2236	17.8526	0.88751	0.0:0.0:1.0:0.0	.	2935	Q9P2D1	CHD7_HUMAN	K	2935;2935;886	ENSP00000392028:E2935K;ENSP00000437061:E886K	ENSP00000307304:E2935K	E	+	1	0	CHD7	61940855	1.000000	0.71417	0.383000	0.26132	0.881000	0.50899	3.302000	0.51849	2.253000	0.74438	0.655000	0.94253	GAA		0.567	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		27	86	0	0	0	1	0	27	86				
FUK	197258	broad.mit.edu	37	16	70497604	70497604	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:70497604T>A	ENST00000288078.6	+	3	393	c.161T>A	c.(160-162)gTg>gAg	p.V54E	FUK_ENST00000378912.2_Missense_Mutation_p.V54E|FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Missense_Mutation_p.V54E	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	54						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GAGAAGCGTGTGGGCAGCGGA	0.642																																						ENST00000288078.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23						c.(160-162)gTg>gAg		fucokinase							35.0	44.0	41.0					16																	70497604		2084	4206	6290	SO:0001583	missense	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70497604T>A		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.161T>A	16.37:g.70497604T>A	ENSP00000288078:p.Val54Glu					FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Missense_Mutation_p.V54E|FUK_ENST00000378912.2_Missense_Mutation_p.V54E	p.V54E	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN			3	393	+		Ovarian(137;0.0694)	54					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.161T>A	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	T	25.7	4.662112	0.88251	.	.	ENSG00000157353	ENST00000288078;ENST00000378912;ENST00000428974	T;T;T	0.57436	2.85;2.79;0.4	5.05	5.05	0.67936	.	0.089960	0.47852	D	0.000214	T	0.70491	0.3230	M	0.69823	2.125	0.46874	D	0.999232	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.71656	0.923;0.974;0.942	T	0.74802	-0.3541	10	0.87932	D	0	-22.7548	14.7779	0.69743	0.0:0.0:0.0:1.0	.	54;54;54	B4DEU5;Q8N0W3-2;Q8N0W3	.;.;FUK_HUMAN	E	54	ENSP00000288078:V54E;ENSP00000368192:V54E;ENSP00000408007:V54E	ENSP00000288078:V54E	V	+	2	0	FUK	69055105	1.000000	0.71417	0.992000	0.48379	0.818000	0.46254	5.140000	0.64807	2.037000	0.60232	0.533000	0.62120	GTG		0.642	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		27	61	0	0	0	1	0	27	61				
RTTN	25914	broad.mit.edu	37	18	67812917	67812917	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:67812917A>G	ENST00000255674.6	-	18	2698	c.2412T>C	c.(2410-2412)gtT>gtC	p.V804V	RTTN_ENST00000454359.1_Silent_p.V804V|RTTN_ENST00000437017.1_Silent_p.V804V	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	804					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATAAATCAGTAACTCTGGAGA	0.398																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2410-2412)gtT>gtC		rotatin							110.0	104.0	106.0					18																	67812917		1835	4086	5921	SO:0001819	synonymous_variant	25914						binding	g.chr18:67812917A>G	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.2412T>C	18.37:g.67812917A>G						RTTN_ENST00000437017.1_Silent_p.V804V|RTTN_ENST00000454359.1_Silent_p.V804V	p.V804V	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			18	2698	-		Esophageal squamous(42;0.129)	804					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	37	c.2412T>C	CCDS42443.1																																																																																				0.398	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		7	109	0	0	0	1	0	7	109				
ITFG1	81533	broad.mit.edu	37	16	47494827	47494827	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:47494827C>T	ENST00000320640.6	-	1	358	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	PHKB_ENST00000566044.1_5'Flank|ITFG1_ENST00000544001.2_Intron|PHKB_ENST00000299167.8_5'Flank|PHKB_ENST00000455779.1_5'Flank|PHKB_ENST00000323584.5_5'Flank	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	44						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CAGGCCTCGGCCCCAAAGAGC	0.687																																						ENST00000320640.6																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(130-132)Gcc>Acc		integrin alpha FG-GAP repeat containing 1							24.0	22.0	22.0					16																	47494827		2201	4300	6501	SO:0001583	missense	81533					extracellular region|integral to membrane		g.chr16:47494827C>T	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.130G>A	16.37:g.47494827C>T	ENSP00000319918:p.Ala44Thr					ITFG1_ENST00000544001.2_Intron	p.A44T	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN			1	358	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	44					Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	c.130G>A	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986908	0.35036	.	.	ENSG00000129636	ENST00000320640	.	.	.	4.58	1.43	0.22495	.	0.322516	0.28247	N	0.016045	T	0.16599	0.0399	N	0.19112	0.55	0.20196	N	0.999927	B	0.12630	0.006	B	0.10450	0.005	T	0.13442	-1.0509	9	0.13470	T	0.59	-1.6091	3.8555	0.08973	0.3265:0.4049:0.1914:0.0773	.	44	Q8TB96	TIP_HUMAN	T	44	.	ENSP00000319918:A44T	A	-	1	0	ITFG1	46052328	0.049000	0.20398	0.998000	0.56505	0.991000	0.79684	-0.455000	0.06762	1.148000	0.42385	-0.189000	0.12847	GCC		0.687	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		8	18	0	0	0	1	0	8	18				
DGKE	8526	broad.mit.edu	37	17	54933949	54933949	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:54933949A>G	ENST00000284061.3	+	8	1355	c.1175A>G	c.(1174-1176)aAg>aGg	p.K392R		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	392					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CATCGTGAGAAGGCACCATCT	0.373																																						ENST00000284061.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(1174-1176)aAg>aGg		diacylglycerol kinase, epsilon 64kDa							147.0	127.0	133.0					17																	54933949		2203	4300	6503	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54933949A>G	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1175A>G	17.37:g.54933949A>G	ENSP00000284061:p.Lys392Arg						p.K392R	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN			8	1355	+	Breast(9;3.59e-07)		392					Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.1175A>G	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.891421	0.72524	.	.	ENSG00000153933	ENST00000284061	T	0.30182	1.54	5.69	5.69	0.88448	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	L	0.31371	0.925	0.80722	D	1	B;B	0.22541	0.071;0.071	B;B	0.30401	0.115;0.115	T	0.04752	-1.0929	10	0.35671	T	0.21	.	16.0181	0.80457	1.0:0.0:0.0:0.0	.	392;392	A1L4Q0;P52429	.;DGKE_HUMAN	R	392	ENSP00000284061:K392R	ENSP00000284061:K392R	K	+	2	0	DGKE	52288948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.598000	0.90852	2.177000	0.69029	0.514000	0.50259	AAG		0.373	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		5	20	0	0	0	1	0	5	20				
TIMP2	7077	broad.mit.edu	37	17	76867073	76867073	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:76867073C>G	ENST00000262768.7	-	3	545	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	TIMP2_ENST00000536189.2_Missense_Mutation_p.E6Q|TIMP2_ENST00000586057.1_Missense_Mutation_p.E6Q|TIMP2_ENST00000585421.1_Missense_Mutation_p.E6Q	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	83	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			ATATCCTTCTCAGGCCCTTTG	0.532																																						ENST00000262768.7																			0				central_nervous_system(2)	2						c.(247-249)Gag>Cag		TIMP metallopeptidase inhibitor 2							89.0	84.0	85.0					17																	76867073		2203	4300	6503	SO:0001583	missense	7077						metal ion binding|metalloendopeptidase inhibitor activity	g.chr17:76867073C>G		CCDS11758.1	17q25	2008-07-18	2005-08-08		ENSG00000035862	ENSG00000035862			11821	protein-coding gene	gene with protein product		188825	"""tissue inhibitor of metalloproteinase 2"""			1427908	Standard	NM_003255		Approved	CSC-21K	uc002jwf.3	P16035	OTTHUMG00000154517	ENST00000262768.7:c.247G>C	17.37:g.76867073C>G	ENSP00000262768:p.Glu83Gln					TIMP2_ENST00000586057.1_Missense_Mutation_p.E6Q|TIMP2_ENST00000585421.1_Missense_Mutation_p.E6Q|TIMP2_ENST00000536189.2_Missense_Mutation_p.E6Q	p.E83Q	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)		3	545	-			83			NTR.		Q16121|Q93006|Q9UDF7	Missense_Mutation	SNP	ENST00000262768.7	37	c.247G>C	CCDS11758.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480638	0.44044	.	.	ENSG00000035862	ENST00000262768;ENST00000536189	D;D	0.93247	-3.19;-3.19	4.88	4.88	0.63580	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.381500	0.27631	N	0.018506	D	0.86360	0.5914	N	0.11064	0.09	0.22266	N	0.99924	B	0.26602	0.154	B	0.25884	0.064	T	0.75836	-0.3177	10	0.33141	T	0.24	.	16.8815	0.86064	0.0:1.0:0.0:0.0	.	83	P16035	TIMP2_HUMAN	Q	83;6	ENSP00000262768:E83Q;ENSP00000441724:E6Q	ENSP00000262768:E83Q	E	-	1	0	TIMP2	74378668	0.883000	0.30277	0.960000	0.40013	0.802000	0.45316	3.211000	0.51137	2.271000	0.75665	0.435000	0.28638	GAG		0.532	TIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335662.1	NM_003255		42	91	0	0	0	1	0	42	91				
ACOT9	23597	broad.mit.edu	37	X	23723708	23723708	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:23723708G>A	ENST00000336430.7	-	12	1041	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	ACOT9_ENST00000379295.1_Missense_Mutation_p.R244W|ACOT9_ENST00000379303.5_Missense_Mutation_p.R313W	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	304					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AAAATGTTCCGCTCCTACAGG	0.408																																						ENST00000379303.5																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						c.(937-939)Cgg>Tgg		acyl-CoA thioesterase 9							110.0	105.0	107.0					X																	23723708		2203	4300	6503	SO:0001583	missense	23597				acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chrX:23723708G>A	AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"""Acyl CoA thioesterases"""	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.910C>T	X.37:g.23723708G>A	ENSP00000336580:p.Arg304Trp					ACOT9_ENST00000379295.1_Missense_Mutation_p.R244W|ACOT9_ENST00000336430.7_Missense_Mutation_p.R304W	p.R313W	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN			13	1065	-			304					B3KNC9|B7ZM94	Missense_Mutation	SNP	ENST00000336430.7	37	c.937C>T	CCDS35216.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801694	0.70682	.	.	ENSG00000123130	ENST00000379303;ENST00000336430;ENST00000379295;ENST00000473710	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.54	2.68	0.31781	.	0.000000	0.85682	D	0.000000	T	0.64283	0.2584	M	0.93462	3.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.997;0.999	T	0.72852	-0.4167	10	0.87932	D	0	-13.4429	14.1639	0.65464	0.0:0.0:0.4535:0.5465	.	271;304;313	Q9Y305-2;Q9Y305;Q9Y305-4	.;ACOT9_HUMAN;.	W	313;304;244;230	ENSP00000368605:R313W;ENSP00000336580:R304W;ENSP00000368597:R244W;ENSP00000420490:R230W	ENSP00000336580:R304W	R	-	1	2	ACOT9	23633629	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	3.385000	0.52485	0.187000	0.20147	0.529000	0.55759	CGG		0.408	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1	NM_012332		50	56	0	0	0	1	0	50	56				
OPN5	221391	broad.mit.edu	37	6	47779420	47779420	+	Missense_Mutation	SNP	G	G	A	rs373745956		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:47779420G>A	ENST00000371211.2	+	6	1037	c.1009G>A	c.(1009-1011)Gta>Ata	p.V337I	OPN5_ENST00000489301.2_Missense_Mutation_p.V337I|OPN5_ENST00000393699.2_Missense_Mutation_p.V337I|OPN5_ENST00000244799.4_3'UTR	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	337					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						GCTGCACACCGTAACCACAGT	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		16954	0.001		0.0	False		,,,				2504	0.0				Melanoma(28;740 973 10870 42660 45347)	ENST00000489301.2																			0				endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						c.(1009-1011)Gta>Ata		opsin 5		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	128.0	113.0	118.0		1009	2.9	0.7	6		118	0,8600		0,0,4300	no	missense	OPN5	NM_181744.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	337/355	47779420	1,13005	2203	4300	6503	SO:0001583	missense	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47779420G>A	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.1009G>A	6.37:g.47779420G>A	ENSP00000360255:p.Val337Ile					OPN5_ENST00000371211.2_Missense_Mutation_p.V337I|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.V337I	p.V337I			Q6U736	OPN5_HUMAN			6	1094	+			337					A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	c.1009G>A	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	G	9.755	1.168502	0.21621	2.27E-4	0.0	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.66280	-0.11;-0.2;-0.18	5.66	2.94	0.34122	.	3.264110	0.00725	N	0.000915	T	0.19167	0.0460	N	0.04508	-0.205	0.20196	N	0.999927	B	0.02656	0.0	B	0.01281	0.0	T	0.10109	-1.0644	10	0.30078	T	0.28	.	7.0327	0.24977	0.271:0.0:0.729:0.0	.	337	Q6U736	OPN5_HUMAN	I	337	ENSP00000426991:V337I;ENSP00000360255:V337I;ENSP00000377302:V337I	ENSP00000360255:V337I	V	+	1	0	OPN5	47887379	0.744000	0.28250	0.705000	0.30386	0.800000	0.45204	1.500000	0.35682	0.754000	0.32968	0.655000	0.94253	GTA		0.358	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		16	61	0	0	0	1	0	16	61				
DST	667	broad.mit.edu	37	6	56470188	56470188	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:56470188T>C	ENST00000361203.3	-	36	8612	c.8605A>G	c.(8605-8607)Aat>Gat	p.N2869D	DST_ENST00000370754.5_Missense_Mutation_p.N3047D|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.N2869D|DST_ENST00000446842.2_Missense_Mutation_p.N2543D|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.N2869D			Q03001	DYST_HUMAN	dystonin	2869					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCCTTGTATTTTTACCAGGC	0.338																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(9139-9141)Aat>Gat		dystonin							94.0	87.0	89.0					6																	56470188		1818	4076	5894	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56470188T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.8605A>G	6.37:g.56470188T>C	ENSP00000354508:p.Asn2869Asp					DST_ENST00000370769.4_Missense_Mutation_p.N2869D|DST_ENST00000312431.6_Missense_Mutation_p.N2869D|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.N2543D|DST_ENST00000361203.3_Missense_Mutation_p.N2869D|DST_ENST00000244364.6_Intron	p.N3047D			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	9138	-	Lung NSC(77;0.103)		2869					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.9139A>G		.	.	.	.	.	.	.	.	.	.	T	6.511	0.462442	0.12342	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.80909	0.08;0.08;1.03;-1.43;0.06;-0.24	6.03	0.836	0.18891	.	1.272520	0.05252	N	0.514111	T	0.31918	0.0812	.	.	.	0.22531	N	0.999018	B	0.26708	0.157	B	0.21917	0.037	T	0.19321	-1.0309	8	0.09084	T	0.74	.	1.8035	0.03076	0.1312:0.3173:0.1353:0.4162	.	2543	Q03001-9	.	D	3047;2869;2543;2869;2869;2543	ENSP00000359790:N3047D;ENSP00000359805:N2869D;ENSP00000393645:N2543D;ENSP00000307959:N2869D;ENSP00000354508:N2869D;ENSP00000404924:N2543D	ENSP00000307959:N2869D	N	-	1	0	DST	56578147	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.393000	0.20817	0.149000	0.19098	0.533000	0.62120	AAT		0.338	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		13	44	0	0	0	1	0	13	44				
IGKV1-17	28937	broad.mit.edu	37	2	89416862	89416862	+	RNA	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:89416862A>G	ENST00000490686.1	-	0	348									immunoglobulin kappa variable 1-17																		AGACAGTAATAAGTTGCAAAA	0.517																																						ENST00000490686.1																			0																																																			28937							g.chr2:89416862A>G	X72808		2p11.2	2012-02-08			ENSG00000240382	ENSG00000240382		"""Immunoglobulins / IGK locus"""	5733	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV117, A30			OTTHUMG00000151650		2.37:g.89416862A>G														0	348	-									RNA	SNP	ENST00000490686.1	37																																																																																						0.517	IGKV1-17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323399.1	NG_000834		6	222	0	0	0	1	0	6	222				
PAK3	5063	broad.mit.edu	37	X	110385398	110385398	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:110385398T>C	ENST00000372010.1	+	6	692	c.250T>C	c.(250-252)Ttt>Ctt	p.F84L	PAK3_ENST00000360648.4_Missense_Mutation_p.F84L|PAK3_ENST00000425146.1_Missense_Mutation_p.F84L|PAK3_ENST00000417227.1_Missense_Mutation_p.F84L|PAK3_ENST00000446737.1_Missense_Mutation_p.F84L|PAK3_ENST00000519681.1_Missense_Mutation_p.F84L|PAK3_ENST00000372007.5_Missense_Mutation_p.F84L|PAK3_ENST00000262836.4_Missense_Mutation_p.F84L|PAK3_ENST00000518291.1_Missense_Mutation_p.F84L			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	84	Autoregulatory region. {ECO:0000250}.|GTPase-binding. {ECO:0000250}.|Linker.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TCATGTGGGGTTTGATGCAGT	0.393										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(250-252)Ttt>Ctt		p21 protein (Cdc42/Rac)-activated kinase 3							192.0	191.0	192.0					X																	110385398		2203	4300	6503	SO:0001583	missense	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110385398T>C	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.250T>C	X.37:g.110385398T>C	ENSP00000361080:p.Phe84Leu	TSP Lung(19;0.15)				PAK3_ENST00000360648.4_Missense_Mutation_p.F84L|PAK3_ENST00000372007.4_Missense_Mutation_p.F84L|PAK3_ENST00000425146.1_Missense_Mutation_p.F84L|PAK3_ENST00000262836.4_Missense_Mutation_p.F84L|PAK3_ENST00000372010.1_Missense_Mutation_p.F84L|PAK3_ENST00000446737.1_Missense_Mutation_p.F84L|PAK3_ENST00000417227.1_Missense_Mutation_p.F84L|PAK3_ENST00000518291.1_Missense_Mutation_p.F84L	p.F84L			O75914	PAK3_HUMAN			6	692	+			84			Autoregulatory region (By similarity).|GTPase-binding (By similarity).|Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	c.250T>C	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.397978	0.83120	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000429193;ENST00000360648;ENST00000417227;ENST00000262836	D;D;D;D;D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	5.96	5.96	0.96718	PAK-box/P21-Rho-binding (2);	0.114327	0.64402	D	0.000007	D	0.89238	0.6658	M	0.74881	2.28	0.80722	D	1	B;B;B;B	0.26902	0.064;0.163;0.078;0.037	B;B;B;B	0.36845	0.149;0.234;0.232;0.104	D	0.87861	0.2664	10	0.72032	D	0.01	.	15.36	0.74464	0.0:0.0:0.0:1.0	.	84;84;84;84	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	L	84	ENSP00000410853:F84L;ENSP00000401982:F84L;ENSP00000361080:F84L;ENSP00000429113:F84L;ENSP00000361077:F84L;ENSP00000428921:F84L;ENSP00000405642:F84L;ENSP00000353864:F84L;ENSP00000389172:F84L;ENSP00000262836:F84L	ENSP00000262836:F84L	F	+	1	0	PAK3	110272054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.011000	0.59026	0.486000	0.48141	TTT		0.393	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		6	116	0	0	0	1	0	6	116				
FAM174A	345757	broad.mit.edu	37	5	99871267	99871267	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:99871267C>T	ENST00000312637.4	+	1	259	c.33C>T	c.(31-33)agC>agT	p.S11S	CTD-2001C12.1_ENST00000499025.1_lincRNA	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	11						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCTGTCTCAGCCACCTCTTGG	0.687																																						ENST00000312637.4																			0				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(31-33)agC>agT		family with sequence similarity 174, member A							54.0	62.0	60.0					5																	99871267		2170	4244	6414	SO:0001819	synonymous_variant	345757					integral to membrane		g.chr5:99871267C>T	AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"""transmembrane protein 157"""	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.33C>T	5.37:g.99871267C>T							p.S11S	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN			1	259	+			11					A8K0H4	Silent	SNP	ENST00000312637.4	37	c.33C>T	CCDS4090.1																																																																																				0.687	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250631.2	NM_198507		5	188	0	0	0	1	0	5	188				
PSMB3	5691	broad.mit.edu	37	17	36912171	36912171	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:36912171A>T	ENST00000225426.4	+	3	315	c.224A>T	c.(223-225)gAg>gTg	p.E75V	RNU6-866P_ENST00000516469.1_RNA	NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	75					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)	4						AACCTGTATGAGTTGAAGGAA	0.478																																						ENST00000225426.4																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(223-225)gAg>gTg		proteasome (prosome, macropain) subunit, beta type, 3							122.0	106.0	112.0					17																	36912171		2203	4300	6503	SO:0001583	missense	5691				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr17:36912171A>T	BC013008	CCDS11328.1	17q12	2014-05-06			ENSG00000108294	ENSG00000277791		"""Proteasome (prosome, macropain) subunits"""	9540	protein-coding gene	gene with protein product		602176				7918633	Standard	NM_002795		Approved	HC10-II, MGC4147	uc002hqr.3	P49720	OTTHUMG00000188503	ENST00000225426.4:c.224A>T	17.37:g.36912171A>T	ENSP00000225426:p.Glu75Val						p.E75V	NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN			3	315	+			75					P31147|Q0P6J7|Q96E27	Missense_Mutation	SNP	ENST00000225426.4	37	c.224A>T	CCDS11328.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.719388	0.48728	.	.	ENSG00000108294	ENST00000225426	T	0.25085	1.82	5.04	5.04	0.67666	.	0.105878	0.64402	D	0.000006	T	0.42245	0.1194	M	0.79614	2.46	0.80722	D	1	B	0.30634	0.288	B	0.43123	0.409	T	0.45234	-0.9275	10	0.72032	D	0.01	.	13.7633	0.62979	1.0:0.0:0.0:0.0	.	75	P49720	PSB3_HUMAN	V	75	ENSP00000225426:E75V	ENSP00000225426:E75V	E	+	2	0	PSMB3	34165697	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.899000	0.92544	2.114000	0.64651	0.533000	0.62120	GAG		0.478	PSMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256810.2	NM_002795		19	67	0	0	0	1	0	19	67				
KIF21A	55605	broad.mit.edu	37	12	39735874	39735874	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:39735874T>C	ENST00000361418.5	-	13	1780	c.1765A>G	c.(1765-1767)Aag>Gag	p.K589E	KIF21A_ENST00000541463.2_Missense_Mutation_p.K576E|KIF21A_ENST00000395670.3_Missense_Mutation_p.K589E|KIF21A_ENST00000544797.2_Missense_Mutation_p.K576E|KIF21A_ENST00000361961.3_Missense_Mutation_p.K576E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	589					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GAAACACCCTTTTCTTCTTTC	0.353																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(1765-1767)Aag>Gag		kinesin family member 21A							217.0	192.0	201.0					12																	39735874		2203	4298	6501	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39735874T>C	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1765A>G	12.37:g.39735874T>C	ENSP00000354878:p.Lys589Glu					KIF21A_ENST00000361418.5_Missense_Mutation_p.K589E|KIF21A_ENST00000541463.2_Missense_Mutation_p.K576E|KIF21A_ENST00000544797.2_Missense_Mutation_p.K576E|KIF21A_ENST00000361961.3_Missense_Mutation_p.K576E	p.K589E			Q7Z4S6	KI21A_HUMAN			13	2184	-		Lung NSC(34;0.179)|all_lung(34;0.213)	589					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.1765A>G	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.749609	0.30955	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.37;-0.38	5.1	5.1	0.69264	.	0.000000	0.52532	D	0.000077	T	0.67942	0.2947	N	0.21142	0.635	0.43750	D	0.996257	B;D;B;P	0.56035	0.319;0.974;0.451;0.942	B;D;B;P	0.70487	0.069;0.969;0.112;0.487	T	0.62445	-0.6853	10	0.11182	T	0.66	.	14.8472	0.70270	0.0:0.0:0.0:1.0	.	576;576;589;576	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;KI21A_HUMAN;.	E	576;589;589;576;589;576	ENSP00000354851:K576E;ENSP00000379029:K589E;ENSP00000445606:K576E;ENSP00000354878:K589E;ENSP00000438075:K576E	ENSP00000344501:K589E	K	-	1	0	KIF21A	38022141	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	5.995000	0.70631	2.040000	0.60383	0.533000	0.62120	AAG		0.353	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		5	28	0	0	0	1	0	5	28				
KIAA0100	9703	broad.mit.edu	37	17	26962548	26962548	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:26962548A>G	ENST00000528896.2	-	16	2131	c.2057T>C	c.(2056-2058)cTa>cCa	p.L686P	KIAA0100_ENST00000544884.1_Missense_Mutation_p.L543P|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.L543P|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	686						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCGGCACTGTAGAGTGGCCAG	0.527																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(2056-2058)cTa>cCa		KIAA0100							77.0	74.0	75.0					17																	26962548		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26962548A>G	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2057T>C	17.37:g.26962548A>G	ENSP00000436773:p.Leu686Pro					RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.L543P|KIAA0100_ENST00000544884.1_Missense_Mutation_p.L543P	p.L686P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			16	2131	-	Lung NSC(42;0.00431)		686					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.2057T>C	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.941895	0.34283	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.25085	1.84;1.82	5.71	5.71	0.89125	.	0.308684	0.32687	N	0.005780	T	0.21267	0.0512	L	0.43152	1.355	0.22811	N	0.998707	P	0.44578	0.838	B	0.38562	0.276	T	0.20405	-1.0276	10	0.29301	T	0.29	.	11.7063	0.51599	0.8677:0.0:0.0:0.1323	.	686	Q14667	K0100_HUMAN	P	686;686;686;543	ENSP00000436773:L686P;ENSP00000446443:L543P	ENSP00000005905:L686P	L	-	2	0	KIAA0100	23986675	0.600000	0.26899	0.078000	0.20375	0.354000	0.29330	3.295000	0.51794	2.176000	0.68965	0.460000	0.39030	CTA		0.527	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		35	69	0	0	0	1	0	35	69				
PI15	51050	broad.mit.edu	37	8	75761352	75761352	+	Splice_Site	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:75761352G>T	ENST00000260113.2	+	6	820		c.e6-1		RP11-758M4.4_ENST00000522914.1_RNA|PI15_ENST00000523773.1_Splice_Site|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15							extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TTCCCTTCTAGGGGCAATTGG	0.393																																						ENST00000260113.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30						c.e6-1		peptidase inhibitor 15							170.0	161.0	164.0					8																	75761352		2203	4300	6503	SO:0001630	splice_region_variant	51050					extracellular region	peptidase inhibitor activity	g.chr8:75761352G>T	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.642-1G>T	8.37:g.75761352G>T						RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Splice_Site		NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		6	820	+	Breast(64;0.137)							Q68CY1	Splice_Site	SNP	ENST00000260113.2	37		CCDS6218.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558657	0.65538	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1672	0.93562	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PI15	75923907	1.000000	0.71417	0.993000	0.49108	0.684000	0.39900	9.208000	0.95075	2.833000	0.97629	0.585000	0.79938	.		0.393	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886	Intron	37	142	1	0	3.61848e-18	1	3.80755e-18	37	142				
PROKR2	128674	broad.mit.edu	37	20	5294896	5294896	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:5294896A>G	ENST00000217270.3	-	1	119	c.120T>C	c.(118-120)gaT>gaC	p.D40D	PROKR2_ENST00000546004.1_Silent_p.D40D	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	40					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TCATGTCCTCATCCTCATCCA	0.507										HNSCC(71;0.22)																												ENST00000546004.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(118-120)gaT>gaC		prokineticin receptor 2							143.0	123.0	130.0					20																	5294896		2203	4300	6503	SO:0001819	synonymous_variant	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5294896A>G	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.120T>C	20.37:g.5294896A>G		HNSCC(71;0.22)				PROKR2_ENST00000217270.3_Silent_p.D40D	p.D40D			Q8NFJ6	PKR2_HUMAN			2	366	-			40					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Silent	SNP	ENST00000217270.3	37	c.120T>C	CCDS13089.1																																																																																				0.507	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773		43	118	0	0	0	1	0	43	118				
TTLL1	25809	broad.mit.edu	37	22	43460219	43460219	+	Silent	SNP	C	C	T	rs144960440		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:43460219C>T	ENST00000266254.7	-	6	855	c.615G>A	c.(613-615)acG>acA	p.T205T	TTLL1_ENST00000331018.7_Silent_p.T205T	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	205	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GTGGACGGTACGTGGACACCA	0.458																																						ENST00000331018.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(613-615)acG>acA		tubulin tyrosine ligase-like family, member 1		C		1,4405	2.1+/-5.4	0,1,2202	136.0	115.0	122.0		615	-11.4	0.4	22	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous	TTLL1	NM_012263.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		205/424	43460219	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43460219C>T	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.615G>A	22.37:g.43460219C>T						TTLL1_ENST00000266254.7_Silent_p.T205T	p.T205T			O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	6	855	-		Ovarian(80;0.0694)	205			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	37	c.615G>A	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	C	2.794	-0.250748	0.05867	2.27E-4	0.0	ENSG00000100271	ENST00000495814	.	.	.	5.7	-11.4	0.00090	.	.	.	.	.	T	0.47040	0.1424	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59894	-0.7368	4	.	.	.	.	10.0312	0.42101	0.0782:0.165:0.592:0.1648	.	.	.	.	H	131	.	.	R	-	2	0	TTLL1	41790163	0.000000	0.05858	0.422000	0.26621	0.241000	0.25554	-2.581000	0.00906	-1.538000	0.01734	0.467000	0.42956	CGT		0.458	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		15	70	0	0	0	1	0	15	70				
KIAA0408	9729	broad.mit.edu	37	6	127765263	127765263	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:127765263C>G	ENST00000483725.3	-	6	2412	c.2076G>C	c.(2074-2076)ttG>ttC	p.L692F	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	692										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CTTAAACCATCAATGCTTCGG	0.493																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(2074-2076)ttG>ttC		KIAA0408							85.0	79.0	81.0					6																	127765263		2203	4300	6503	SO:0001583	missense	9729						protein binding	g.chr6:127765263C>G	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.2076G>C	6.37:g.127765263C>G	ENSP00000435150:p.Leu692Phe					SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.L692F	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	6	2412	-			692					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	ENST00000483725.3	37	c.2076G>C	CCDS34531.1	.	.	.	.	.	.	.	.	.	.	C	4.318	0.058324	0.08339	.	.	ENSG00000189367	ENST00000483725	T	0.32753	1.44	6.07	-6.15	0.02105	.	0.281181	0.18687	U	0.133963	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.06405	0.002;0.002	T	0.27839	-1.0062	10	0.72032	D	0.01	6.6009	11.6449	0.51255	0.0:0.3334:0.084:0.5826	.	692;575	Q6ZU52;Q6ZU52-2	K0408_HUMAN;.	F	692	ENSP00000435150:L692F	ENSP00000435150:L692F	L	-	3	2	KIAA0408	127806956	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-2.291000	0.01147	-1.558000	0.01690	-1.273000	0.01405	TTG		0.493	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		14	44	0	0	0	1	0	14	44				
DAAM1	23002	broad.mit.edu	37	14	59797293	59797293	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:59797293A>G	ENST00000395125.1	+	12	1470	c.1447A>G	c.(1447-1449)Atg>Gtg	p.M483V	DAAM1_ENST00000360909.3_Missense_Mutation_p.M483V|DAAM1_ENST00000351081.1_Missense_Mutation_p.M483V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	483					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GAAGGAAGAGATGATGCAGAC	0.423																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(1447-1449)Atg>Gtg		dishevelled associated activator of morphogenesis 1							102.0	97.0	98.0					14																	59797293		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59797293A>G	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1447A>G	14.37:g.59797293A>G	ENSP00000378557:p.Met483Val					DAAM1_ENST00000351081.1_Missense_Mutation_p.M483V|DAAM1_ENST00000360909.3_Missense_Mutation_p.M483V	p.M483V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	12	1470	+			483					Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.1447A>G	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.718619	0.48622	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.39056	1.1;1.1;1.1	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.62196	0.2408	M	0.71581	2.175	0.80722	D	1	P;P	0.43578	0.811;0.713	P;P	0.60789	0.879;0.761	T	0.57556	-0.7791	10	0.30078	T	0.28	.	16.1357	0.81487	1.0:0.0:0.0:0.0	.	483;483	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	V	483	ENSP00000354162:M483V;ENSP00000247170:M483V;ENSP00000378557:M483V	ENSP00000247170:M483V	M	+	1	0	DAAM1	58867046	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	7.386000	0.79775	2.289000	0.77006	0.533000	0.62120	ATG		0.423	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		7	73	0	0	0	1	0	7	73				
PCNT	5116	broad.mit.edu	37	21	47769663	47769663	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:47769663T>C	ENST00000359568.5	+	8	1380	c.1273T>C	c.(1273-1275)Tcc>Ccc	p.S425P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	425	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGACCTGCAGTCCGAGCACGG	0.473																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(1273-1275)Tcc>Ccc		pericentrin							113.0	110.0	111.0					21																	47769663		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47769663T>C	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1273T>C	21.37:g.47769663T>C	ENSP00000352572:p.Ser425Pro					PCNT_ENST00000480896.1_3'UTR	p.S425P	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			8	1380	+	Breast(49;0.112)		425			Glu-rich.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.1273T>C	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.690273	0.29962	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.27402	1.67	3.98	1.51	0.23008	.	1.142500	0.06986	N	0.820738	T	0.41026	0.1141	L	0.43923	1.385	0.09310	N	1	D;D	0.64830	0.994;0.99	P;P	0.62298	0.9;0.797	T	0.24297	-1.0164	10	0.36615	T	0.2	.	6.1186	0.20139	0.0:0.0923:0.3818:0.5258	.	307;425	O95613-2;O95613	.;PCNT_HUMAN	P	425;412	ENSP00000352572:S425P	ENSP00000338675:S412P	S	+	1	0	PCNT	46594091	0.003000	0.15002	0.006000	0.13384	0.179000	0.23085	-0.329000	0.07935	0.315000	0.23110	0.450000	0.29827	TCC		0.473	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		6	146	0	0	0	1	0	6	146				
RBM39	9584	broad.mit.edu	37	20	34302199	34302199	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:34302199G>A	ENST00000253363.6	-	11	1027	c.1004C>T	c.(1003-1005)gCt>gTt	p.A335V	snoU13_ENST00000459110.1_RNA|RBM39_ENST00000407261.4_Missense_Mutation_p.A178V|RBM39_ENST00000528062.3_Missense_Mutation_p.A313V|RBM39_ENST00000361162.6_Missense_Mutation_p.A335V			Q14498	RBM39_HUMAN	RNA binding motif protein 39	335	Activating domain. {ECO:0000250}.|Interaction with JUN. {ECO:0000250}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					AAATGAACTAGCACTCGAAGC	0.418																																						ENST00000361162.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1003-1005)gCt>gTt		RNA binding motif protein 39							161.0	133.0	143.0					20																	34302199		2203	4300	6503	SO:0001583	missense	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34302199G>A	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.1004C>T	20.37:g.34302199G>A	ENSP00000253363:p.Ala335Val					RBM39_ENST00000528062.3_Missense_Mutation_p.A313V|RBM39_ENST00000407261.4_Missense_Mutation_p.A178V|RBM39_ENST00000253363.6_Missense_Mutation_p.A335V	p.A335V	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN			11	1388	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		335			Activating domain (By similarity).|Interaction with JUN (By similarity).		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	c.1004C>T	CCDS13266.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976212	0.74360	.	.	ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261	T;T;T;T	0.05925	3.37;3.37;3.37;3.37	5.19	5.19	0.71726	.	0.094701	0.64402	D	0.000001	T	0.14614	0.0353	M	0.78637	2.42	0.80722	D	1	B;P;P;B;B	0.42827	0.129;0.791;0.766;0.255;0.08	B;B;B;B;B	0.43103	0.029;0.299;0.408;0.075;0.017	T	0.03008	-1.1083	10	0.30078	T	0.28	.	18.9101	0.92479	0.0:0.0:1.0:0.0	.	313;313;335;335;311	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.;.;.;RBM39_HUMAN;.	V	335;335;313;178	ENSP00000253363:A335V;ENSP00000354437:A335V;ENSP00000436747:A313V;ENSP00000384541:A178V	ENSP00000253363:A335V	A	-	2	0	RBM39	33765613	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.544000	0.98092	2.711000	0.92665	0.655000	0.94253	GCT		0.418	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		41	79	0	0	0	1	0	41	79				
MAGI1	9223	broad.mit.edu	37	3	65342171	65342171	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:65342171G>A	ENST00000402939.2	-	23	4270	c.4271C>T	c.(4270-4272)gCc>gTc	p.A1424V	RP11-88H12.2_ENST00000602316.1_RNA|MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1453					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCGGTGGCTGGCTCTGTCCTC	0.622																																						ENST00000402939.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(4270-4272)gCc>gTc		membrane associated guanylate kinase, WW and PDZ domain containing 1							131.0	126.0	127.0					3																	65342171		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342171G>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.4271C>T	3.37:g.65342171G>A	ENSP00000385450:p.Ala1424Val					MAGI1_ENST00000330909.8_3'UTR	p.A1424V	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	4270	-		Lung NSC(201;0.0016)	1453					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	37	c.4271C>T	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	G	2.592	-0.295014	0.05568	.	.	ENSG00000151276	ENST00000402939	T	0.11385	2.78	5.55	-11.1	0.00147	.	1.268860	0.05480	N	0.554737	T	0.03564	0.0102	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.32587	-0.9901	10	0.14252	T	0.57	0.3534	6.5799	0.22588	0.2325:0.4995:0.1891:0.0789	.	1424	Q96QZ7-2	.	V	1424	ENSP00000385450:A1424V	ENSP00000385450:A1424V	A	-	2	0	MAGI1	65317211	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.818000	0.04467	-2.109000	0.00838	-0.140000	0.14226	GCC		0.622	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		30	120	0	0	0	1	0	30	120				
TUBA3C	7278	broad.mit.edu	37	13	19753567	19753567	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:19753567T>A	ENST00000400113.3	-	2	244	c.140A>T	c.(139-141)gAc>gTc	p.D47V	RP11-408E5.4_ENST00000382988.2_5'Flank	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	47					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GTTGAAGGAGTCGTCCCCACC	0.562																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(139-141)gAc>gTc		tubulin, alpha 3c							225.0	182.0	196.0					13																	19753567		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19753567T>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.140A>T	13.37:g.19753567T>A	ENSP00000382982:p.Asp47Val						p.D47V	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	2	244	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	47					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.140A>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	t	7.782	0.709661	0.15239	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.72051	-0.62	1.37	1.37	0.22104	.	0.266278	0.24547	U	0.037588	T	0.72969	0.3527	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73026	-0.4112	7	0.87932	D	0	.	6.8515	0.24018	0.0:0.0:0.0:1.0	.	.	.	.	V	47	ENSP00000382982:D47V	ENSP00000354037:D47V	D	-	2	0	TUBA3C	18651567	1.000000	0.71417	0.996000	0.52242	0.560000	0.35617	6.618000	0.74214	0.885000	0.36088	0.163000	0.16589	GAC		0.562	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		42	131	0	0	0	1	0	42	131				
AGPAT6	137964	broad.mit.edu	37	8	41467252	41467252	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:41467252A>T	ENST00000396987.3	+	4	1241	c.314A>T	c.(313-315)gAc>gTc	p.D105V	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	105					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			AAGGCTCTGGACAACACTCCA	0.438																																						ENST00000396987.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14						c.(313-315)gAc>gTc		1-acylglycerol-3-phosphate O-acyltransferase 6							108.0	102.0	104.0					8																	41467252		2203	4300	6503	SO:0001583	missense	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41467252A>T	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20880	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, zeta"""	608143	"""1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"""			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.314A>T	8.37:g.41467252A>T	ENSP00000380184:p.Asp105Val					RP11-360L9.8_ENST00000581909.1_RNA	p.D105V	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		4	1241	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	105					Q86V89	Missense_Mutation	SNP	ENST00000396987.3	37	c.314A>T	CCDS6117.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808112	0.50421	.	.	ENSG00000158669	ENST00000396987;ENST00000519853	T	0.45276	0.9	4.82	4.82	0.62117	.	0.213809	0.37715	N	0.001974	T	0.32734	0.0839	L	0.33485	1.01	0.80722	D	1	B	0.23128	0.08	B	0.19946	0.027	T	0.08973	-1.0696	10	0.30854	T	0.27	.	13.9961	0.64402	1.0:0.0:0.0:0.0	.	105	Q86UL3	GPAT4_HUMAN	V	105;59	ENSP00000380184:D105V	ENSP00000380184:D105V	D	+	2	0	AGPAT6	41586409	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	2.296000	0.43584	2.135000	0.66039	0.460000	0.39030	GAC		0.438	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		10	172	0	0	0	1	0	10	172				
TTC23	64927	broad.mit.edu	37	15	99678261	99678261	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:99678261T>C	ENST00000394132.2	-	14	2115	c.1298A>G	c.(1297-1299)cAg>cGg	p.Q433R	TTC23_ENST00000558663.1_Missense_Mutation_p.Q433R|TTC23_ENST00000394136.1_Missense_Mutation_p.Q433R|TTC23_ENST00000262074.4_Missense_Mutation_p.Q433R|TTC23_ENST00000394135.3_Missense_Mutation_p.Q433R|TTC23_ENST00000558613.1_Missense_Mutation_p.Q433R|RP11-6O2.3_ENST00000564527.1_RNA			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	433										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CAGGGTGTCCTGAGGGATGCT	0.612																																						ENST00000394132.2																			0				endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16						c.(1297-1299)cAg>cGg		tetratricopeptide repeat domain 23							45.0	51.0	49.0					15																	99678261		1961	4138	6099	SO:0001583	missense	64927						binding	g.chr15:99678261T>C		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.1298A>G	15.37:g.99678261T>C	ENSP00000377690:p.Gln433Arg					TTC23_ENST00000558613.1_Missense_Mutation_p.Q433R|TTC23_ENST00000558663.1_Missense_Mutation_p.Q433R|TTC23_ENST00000394136.1_Missense_Mutation_p.Q433R|TTC23_ENST00000262074.4_Missense_Mutation_p.Q433R|TTC23_ENST00000394135.3_Missense_Mutation_p.Q433R	p.Q433R			Q5W5X9	TTC23_HUMAN	all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)		14	2115	-	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		433					A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	ENST00000394132.2	37	c.1298A>G	CCDS10379.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.507|9.507	1.104675|1.104675	0.20632|0.20632	.|.	.|.	ENSG00000103852|ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135|ENST00000434594	T;T;T;T|.	0.15718|.	2.4;2.4;2.4;2.4|.	4.67|4.67	-2.57|-2.57	0.06248|0.06248	.|.	0.789321|.	0.10974|.	U|.	0.613496|.	T|T	0.28665|0.28665	0.0710|0.0710	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.30179|0.30179	-0.9987|-0.9987	10|5	0.13470|.	T|.	0.59|.	-0.3343|-0.3343	5.6182|5.6182	0.17444|0.17444	0.0:0.1762:0.4541:0.3697|0.0:0.1762:0.4541:0.3697	.|.	433|.	Q5W5X9|.	TTC23_HUMAN|.	R|G	433|244	ENSP00000377690:Q433R;ENSP00000377693:Q433R;ENSP00000262074:Q433R;ENSP00000377692:Q433R|.	ENSP00000262074:Q433R|.	Q|R	-|-	2|1	0|2	TTC23|TTC23	97495784|97495784	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.133000|0.133000	0.20885|0.20885	-0.055000|-0.055000	0.11807|0.11807	-0.723000|-0.723000	0.04915|0.04915	-0.376000|-0.376000	0.06991|0.06991	CAG|AGG		0.612	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	NM_022905		12	50	0	0	0	1	0	12	50				
TTN	7273	broad.mit.edu	37	2	179402611	179402611	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179402611T>C	ENST00000591111.1	-	305	94624	c.94400A>G	c.(94399-94401)aAg>aGg	p.K31467R	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K30540R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K33108R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K24168R|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K24235R|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K24043R|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31467	Ig-like 140.				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)			GGTAACATCCTTCATTTCTTT	0.398																																						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.(99322-99324)aAg>aGg		titin							53.0	47.0	49.0					2																	179402611		1898	4116	6014	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179402611T>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.94400A>G	2.37:g.179402611T>C	ENSP00000465570:p.Lys31467Arg					TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K24043R|TTN_ENST00000342992.6_Missense_Mutation_p.K30540R|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K31467R|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K24168R|TTN_ENST00000342175.6_Missense_Mutation_p.K24235R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.K33108R	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)		355	99547	-			31467					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.99323A>G		.	.	.	.	.	.	.	.	.	.	T	11.31	1.600118	0.28534	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	6.04	-1.37	0.09056	Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50769	0.1635	L	0.32530	0.975	0.09310	N	1	B;B;B;B	0.15719	0.014;0.014;0.014;0.008	B;B;B;B	0.17979	0.01;0.01;0.02;0.02	T	0.47114	-0.9142	9	0.87932	D	0	.	5.8762	0.18830	0.0933:0.0599:0.33:0.5168	.	24043;24168;24235;31467	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	30540;24043;24235;24168;24040	ENSP00000343764:K30540R;ENSP00000434586:K24043R;ENSP00000340554:K24235R;ENSP00000352154:K24168R	ENSP00000340554:K24235R	K	-	2	0	TTN	179110857	0.475000	0.25894	0.016000	0.15963	0.992000	0.81027	1.901000	0.39838	-0.071000	0.12886	0.460000	0.39030	AAG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	29	0	0	0	1	0	5	29				
PTPN11	5781	broad.mit.edu	37	12	112919948	112919948	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:112919948T>G	ENST00000351677.2	+	10	1361	c.1163T>G	c.(1162-1164)gTc>gGc	p.V388G	PTPN11_ENST00000392597.1_Missense_Mutation_p.V388G	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	388	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GTTAGGAACGTCAAAGAAAGC	0.383			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			"""JMML, AML, MDS"""		0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						c.(1162-1164)gTc>gGc		protein tyrosine phosphatase, non-receptor type 11							93.0	87.0	89.0					12																	112919948		2203	4297	6500	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112919948T>G	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1163T>G	12.37:g.112919948T>G	ENSP00000340944:p.Val388Gly					PTPN11_ENST00000392597.1_Missense_Mutation_p.V388G	p.V388G	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			10	1361	+			388			Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.1163T>G	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.423722	0.43020	.	.	ENSG00000179295	ENST00000392597;ENST00000351677	D;D	0.83992	-1.79;-1.79	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.84946	0.5585	M	0.87097	2.86	0.80722	D	1	B;B	0.27679	0.185;0.073	B;B	0.24394	0.053;0.053	D	0.84527	0.0631	10	0.52906	T	0.07	.	15.0353	0.71741	0.0:0.0:0.0:1.0	.	388;388	Q06124-2;Q06124-3	.;.	G	388	ENSP00000376376:V388G;ENSP00000340944:V388G	ENSP00000340944:V388G	V	+	2	0	PTPN11	111404331	1.000000	0.71417	1.000000	0.80357	0.249000	0.25844	7.698000	0.84413	1.952000	0.56665	0.528000	0.53228	GTC		0.383	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			4	145	0	0	0	1	0	4	145				
PKD1	5310	broad.mit.edu	37	16	2164521	2164521	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2164521G>A	ENST00000262304.4	-	11	2711	c.2503C>T	c.(2503-2505)Cgc>Tgc	p.R835C	PKD1_ENST00000423118.1_Missense_Mutation_p.R835C|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	835					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACGTAGAGGCGGCCGTCGCGG	0.692																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(2503-2505)Cgc>Tgc		polycystic kidney disease 1 (autosomal dominant)							8.0	8.0	8.0					16																	2164521		1781	3455	5236	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2164521G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2503C>T	16.37:g.2164521G>A	ENSP00000262304:p.Arg835Cys					PKD1_ENST00000423118.1_Missense_Mutation_p.R835C	p.R835C	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			11	2711	-			835					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.2503C>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	g	12.71	2.019892	0.35606	.	.	ENSG00000008710	ENST00000262304;ENST00000423118	T;T	0.35421	1.31;1.31	5.39	4.44	0.53790	Polycystin cation channel (1);	0.869690	0.10177	N	0.706328	T	0.44705	0.1306	L	0.57536	1.79	0.23293	N	0.997965	D;D	0.76494	0.999;0.994	P;P	0.53146	0.719;0.613	T	0.35475	-0.9787	10	0.54805	T	0.06	.	6.6926	0.23181	0.0872:0.0:0.6041:0.3087	.	835;835	P98161-3;P98161	.;PKD1_HUMAN	C	835	ENSP00000262304:R835C;ENSP00000399501:R835C	ENSP00000262304:R835C	R	-	1	0	PKD1	2104522	1.000000	0.71417	0.547000	0.28179	0.013000	0.08279	3.436000	0.52856	2.521000	0.84997	0.645000	0.84053	CGC		0.692	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			11	19	0	0	0	1	0	11	19				
MACC1	346389	broad.mit.edu	37	7	20198531	20198531	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:20198531A>G	ENST00000400331.5	-	5	1761	c.1453T>C	c.(1453-1455)Ttt>Ctt	p.F485L	MACC1_ENST00000589011.1_Missense_Mutation_p.F485L|MACC1_ENST00000332878.4_Missense_Mutation_p.F485L	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	485					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TGAACACAAAAATCAAACAAG	0.398																																						ENST00000400331.5																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(1453-1455)Ttt>Ctt		metastasis associated in colon cancer 1							79.0	74.0	75.0					7																	20198531		2203	4300	6503	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20198531A>G		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1453T>C	7.37:g.20198531A>G	ENSP00000383185:p.Phe485Leu					MACC1_ENST00000332878.4_Missense_Mutation_p.F485L|MACC1_ENST00000589011.1_Missense_Mutation_p.F485L	p.F485L	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN			5	1761	-			485					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.1453T>C	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	A	2.437	-0.329611	0.05314	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.06687	3.27;3.27	5.84	5.84	0.93424	.	0.153645	0.64402	N	0.000011	T	0.07593	0.0191	L	0.34521	1.04	0.52099	D	0.999942	B	0.21071	0.051	B	0.24974	0.057	T	0.07481	-1.0770	10	0.02654	T	1	-11.051	16.2055	0.82126	1.0:0.0:0.0:0.0	.	485	Q6ZN28	MACC1_HUMAN	L	485	ENSP00000383185:F485L;ENSP00000328410:F485L	ENSP00000328410:F485L	F	-	1	0	MACC1	20165056	0.999000	0.42202	0.834000	0.33040	0.018000	0.09664	3.485000	0.53208	2.226000	0.72624	0.482000	0.46254	TTT		0.398	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		32	87	0	0	0	1	0	32	87				
MIER3	166968	broad.mit.edu	37	5	56219085	56219085	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:56219085T>C	ENST00000381199.3	-	13	1533	c.1523A>G	c.(1522-1524)cAc>cGc	p.H508R	MIER3_ENST00000409421.1_Missense_Mutation_p.H445R|MIER3_ENST00000381226.3_Missense_Mutation_p.H513R|MIER3_ENST00000381213.3_Missense_Mutation_p.H507R|SETD9_ENST00000541720.1_Intron			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		GTGATGTGTGTGATTTTCAAA	0.453																																						ENST00000381226.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19						c.(1537-1539)cAc>cGc		mesoderm induction early response 1, family member 3							134.0	131.0	132.0					5																	56219085		2203	4300	6503	SO:0001583	missense	166968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr5:56219085T>C	BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.1523A>G	5.37:g.56219085T>C	ENSP00000370596:p.His508Arg					MIER3_ENST00000381199.3_Missense_Mutation_p.H508R|MIER3_ENST00000381213.3_Missense_Mutation_p.H507R|MIER3_ENST00000409421.1_Missense_Mutation_p.H445R|SETD9_ENST00000541720.1_Intron	p.H513R			Q7Z3K6	MIER3_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)	13	1553	-		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)	508					B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37	c.1538A>G		.	.	.	.	.	.	.	.	.	.	T	9.040	0.989335	0.18966	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.64	5.64	0.86602	.	0.043557	0.85682	D	0.000000	T	0.53318	0.1789	L	0.35414	1.06	0.46874	D	0.999235	B;B;B	0.15141	0.003;0.012;0.012	B;B;B	0.16722	0.003;0.016;0.016	T	0.47749	-0.9093	10	0.36615	T	0.2	-0.6547	15.8601	0.79014	0.0:0.0:0.0:1.0	.	508;513;507	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	R	513;507;508;445	ENSP00000370624:H513R;ENSP00000370611:H507R;ENSP00000370596:H508R;ENSP00000386584:H445R	ENSP00000370596:H508R	H	-	2	0	MIER3	56254842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.596000	0.67570	2.157000	0.67596	0.482000	0.46254	CAC		0.453	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622		4	98	0	0	0	1	0	4	98				
SPESP1	246777	broad.mit.edu	37	15	69238372	69238372	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:69238372G>T	ENST00000310673.3	+	2	653	c.499G>T	c.(499-501)Gaa>Taa	p.E167*	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|SPESP1_ENST00000560188.1_3'UTR	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	167					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						AGTTGTTACTGAATCATCTAC	0.448																																						ENST00000310673.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(499-501)Gaa>Taa		sperm equatorial segment protein 1							112.0	111.0	111.0					15																	69238372		2200	4298	6498	SO:0001587	stop_gained	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238372G>T	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.499G>T	15.37:g.69238372G>T	ENSP00000312284:p.Glu167*					NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron|SPESP1_ENST00000560188.1_3'UTR|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron	p.E167*	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN			2	653	+			167					Q8NG22|Q8WVH8	Nonsense_Mutation	SNP	ENST00000310673.3	37	c.499G>T	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020523	0.35606	.	.	ENSG00000258484	ENST00000310673	.	.	.	4.32	-5.83	0.02325	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999981	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	0.0726	6.4742	0.22026	0.38:0.4367:0.1833:0.0	.	.	.	.	X	167	.	ENSP00000312284:E167X	E	+	1	0	SPESP1	67025426	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.700000	0.05081	-1.198000	0.02669	-0.253000	0.11424	GAA		0.448	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		23	133	1	0	1.10513e-12	1	1.15186e-12	23	133				
SEPN1	57190	broad.mit.edu	37	1	26136267	26136267	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:26136267C>T	ENST00000374315.1	+	6	902	c.864C>T	c.(862-864)gaC>gaT	p.D288D	SEPN1_ENST00000354177.4_Silent_p.D288D|SEPN1_ENST00000361547.2_Silent_p.D322D	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	322						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.D322D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCAAAGACGCCACCCACG	0.632																																						ENST00000361547.2																			1	Substitution - coding silent(1)	p.D322D(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(964-966)gaC>gaT		selenoprotein N, 1							102.0	119.0	113.0					1																	26136267		2164	4257	6421	SO:0001819	synonymous_variant	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26136267C>T	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.864C>T	1.37:g.26136267C>T						SEPN1_ENST00000374315.1_Silent_p.D288D|SEPN1_ENST00000354177.4_Silent_p.D288D	p.D322D	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	7	1021	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	322					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Silent	SNP	ENST00000374315.1	37	c.966C>T	CCDS41283.1																																																																																				0.632	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		42	131	0	0	0	1	0	42	131				
DYNLL2	140735	broad.mit.edu	37	17	56164482	56164482	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:56164482G>A	ENST00000579991.2	+	2	309	c.31G>A	c.(31-33)Gca>Aca	p.A11T		NM_080677.2	NP_542408.1	Q96FJ2	DYL2_HUMAN	dynein, light chain, LC8-type 2	11					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|microtubule-based process (GO:0007017)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|synaptic target recognition (GO:0008039)|transport (GO:0006810)	centrosome (GO:0005813)|cytosol (GO:0005829)|dynein complex (GO:0030286)|membrane (GO:0016020)|microtubule (GO:0005874)|myosin complex (GO:0016459)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	motor activity (GO:0003774)			lung(3)	3						GATCAAGAACGCAGACATGTC	0.502																																						ENST00000240343.6																			0				lung(3)	3						c.(31-33)Gca>Aca		dynein, light chain, LC8-type 2							115.0	93.0	100.0					17																	56164482		2203	4300	6503	SO:0001583	missense	140735				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport	centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane	motor activity	g.chr17:56164482G>A	AF112997	CCDS11601.1	17q23.2	2009-11-18				ENSG00000264364		"""Cytoplasmic dyneins"""	24596	protein-coding gene	gene with protein product	"""radial spoke 22 homolog (Chlamydomonas)"""	608942				16260502	Standard	NM_080677		Approved	MGC17810, Dlc2, DNCL1B, RSPH22	uc010wnn.1	Q96FJ2		ENST00000579991.2:c.31G>A	17.37:g.56164482G>A	ENSP00000477310:p.Ala11Thr						p.A11T	NM_080677.2	NP_542408.1	Q96FJ2	DYL2_HUMAN			2	309	+			11					B2R5B4	Missense_Mutation	SNP	ENST00000579991.2	37	c.31G>A	CCDS11601.1	.	.	.	.	.	.	.	.	.	.	g	23.3	4.404201	0.83230	.	.	ENSG00000121083	ENST00000240343	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	.	.	.	0.80722	D	1	B	0.26258	0.145	B	0.23275	0.045	T	0.48758	-0.9007	8	0.31617	T	0.26	.	18.5358	0.91010	0.0:0.0:1.0:0.0	.	11	Q96FJ2	DYL2_HUMAN	T	11	.	ENSP00000240343:A11T	A	+	1	0	DYNLL2	53519481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.616000	0.88540	0.555000	0.69702	GCA		0.502	DYNLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443338.2	NM_080677		13	45	0	0	0	1	0	13	45				
ABCC2	1244	broad.mit.edu	37	10	101611293	101611293	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:101611293T>C	ENST00000370449.4	+	32	4656	c.4543T>C	c.(4543-4545)Tgc>Cgc	p.C1515R		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1515	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		C -> Y (in dbSNP:rs8187710). {ECO:0000269|PubMed:22290738, ECO:0000269|Ref.2}.		cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GATTATAGAGTGCGGCAGCCC	0.413																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(4543-4545)Tgc>Cgc		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						118.0	117.0	117.0					10																	101611293		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101611293T>C	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.4543T>C	10.37:g.101611293T>C	ENSP00000359478:p.Cys1515Arg						p.C1515R	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	32	4656	+		Colorectal(252;0.234)	1515		C -> Y (in dbSNP:rs8187710).	ABC transporter 2.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.4543T>C	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.659873	0.47572	.	.	ENSG00000023839	ENST00000370449	T	0.64803	-0.12	4.58	4.58	0.56647	ABC transporter-like (1);	0.109437	0.64402	D	0.000005	T	0.41190	0.1148	N	0.03999	-0.3	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40098	-0.9581	10	0.87932	D	0	-1.6801	13.7725	0.63034	0.0:0.0:0.0:1.0	.	1515	Q92887	MRP2_HUMAN	R	1515	ENSP00000359478:C1515R	ENSP00000359478:C1515R	C	+	1	0	ABCC2	101601283	1.000000	0.71417	0.934000	0.37439	0.711000	0.40976	7.464000	0.80887	1.911000	0.55334	0.459000	0.35465	TGC		0.413	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		6	146	0	0	0	1	0	6	146				
ISLR	3671	broad.mit.edu	37	15	74467666	74467666	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:74467666A>G	ENST00000249842.3	+	2	824	c.467A>G	c.(466-468)aAc>aGc	p.N156S	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.N156S	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	156					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CTCAACCACAACCGCTTGCAC	0.632																																						ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(466-468)aAc>aGc		immunoglobulin superfamily containing leucine-rich repeat							76.0	72.0	74.0					15																	74467666		2198	4297	6495	SO:0001583	missense	3671				cell adhesion	extracellular region		g.chr15:74467666A>G	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.467A>G	15.37:g.74467666A>G	ENSP00000249842:p.Asn156Ser					ISLR_ENST00000395118.1_Missense_Mutation_p.N156S|RP11-665J16.1_ENST00000561647.1_RNA	p.N156S	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN			2	824	+			156						Missense_Mutation	SNP	ENST00000249842.3	37	c.467A>G	CCDS10260.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.951337	0.53186	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.67865	-0.29;-0.29	4.05	4.05	0.47172	.	0.000000	0.56097	U	0.000026	D	0.84247	0.5430	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87731	0.2579	10	0.87932	D	0	.	13.0073	0.58712	1.0:0.0:0.0:0.0	.	156	O14498	ISLR_HUMAN	S	156	ENSP00000249842:N156S;ENSP00000378550:N156S	ENSP00000249842:N156S	N	+	2	0	ISLR	72254719	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	9.141000	0.94612	1.486000	0.48398	0.260000	0.18958	AAC		0.632	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		19	46	0	0	0	1	0	19	46				
FERMT1	55612	broad.mit.edu	37	20	6077679	6077679	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:6077679T>C	ENST00000217289.4	-	8	1747	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	FERMT1_ENST00000536936.1_Splice_Site_p.Y63C|FERMT1_ENST00000478194.1_5'Flank	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	320	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GCTAATGTGGTACTAAAATGA	0.358																																						ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.e8-1		fermitin family member 1							122.0	136.0	131.0					20																	6077679		2203	4300	6503	SO:0001630	splice_region_variant	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6077679T>C	AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.958-1A>G	20.37:g.6077679T>C						FERMT1_ENST00000536936.1_Splice_Site_p.Y63_splice	p.Y320_splice	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			8	1747	-			320			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Splice_Site	SNP	ENST00000217289.4	37	c.957_splice	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022347	0.75275	.	.	ENSG00000101311	ENST00000217289;ENST00000536936;ENST00000339538	T;T	0.78707	-1.2;-1.2	5.55	5.55	0.83447	Band 4.1 domain (1);FERM central domain (2);	0.118028	0.64402	D	0.000013	D	0.87997	0.6319	M	0.83603	2.65	0.80722	D	1	D;B;D	0.65815	0.995;0.096;0.978	D;B;D	0.70935	0.971;0.092;0.918	D	0.87625	0.2512	10	0.35671	T	0.21	-12.9562	15.3739	0.74590	0.0:0.0:0.0:1.0	.	320;320;320	B2RAX1;Q9BQL6-4;Q9BQL6	.;.;FERM1_HUMAN	C	320;63;320	ENSP00000217289:Y320C;ENSP00000441063:Y63C	ENSP00000217289:Y320C	Y	-	2	0	FERMT1	6025679	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	7.426000	0.80270	2.110000	0.64415	0.454000	0.30748	TAC		0.358	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671	Missense_Mutation	26	235	0	0	0	1	0	26	235				
ATXN1	6310	broad.mit.edu	37	6	16326726	16326726	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:16326726T>C	ENST00000244769.4	-	8	2752	c.1816A>G	c.(1816-1818)Aac>Gac	p.N606D	ATXN1_ENST00000436367.1_Missense_Mutation_p.N606D	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	606	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.|Interaction with USP7.|RNA-binding.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTCAGGTCGTTGCTTATCTCT	0.532																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(1816-1818)Aac>Gac		ataxin 1							90.0	91.0	90.0					6																	16326726		2203	4300	6503	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16326726T>C	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1816A>G	6.37:g.16326726T>C	ENSP00000244769:p.Asn606Asp					ATXN1_ENST00000436367.1_Missense_Mutation_p.N606D	p.N606D	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	2752	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	606			AXH.|Interaction with USP7.|RNA-binding.		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.1816A>G	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	T	11.26	1.586366	0.28268	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.77229	-1.08;-1.08	4.45	4.45	0.53987	Ataxin, AXH domain (1);Ataxin-1/HBP1 module (AXH) (3);	0.525151	0.22657	N	0.057256	T	0.44850	0.1313	N	0.12569	0.235	0.58432	D	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.50039	-0.8874	10	0.45353	T	0.12	-13.5776	9.9135	0.41419	0.1522:0.0:0.0:0.8478	.	606	P54253	ATX1_HUMAN	D	606	ENSP00000244769:N606D;ENSP00000416360:N606D	ENSP00000244769:N606D	N	-	1	0	ATXN1	16434705	1.000000	0.71417	0.992000	0.48379	0.941000	0.58515	5.617000	0.67716	1.871000	0.54225	0.459000	0.35465	AAC		0.532	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		7	113	0	0	0	1	0	7	113				
CBX6	23466	broad.mit.edu	37	22	39262787	39262787	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:39262787T>C	ENST00000407418.3	-	5	789	c.666A>G	c.(664-666)acA>acG	p.T222T	CBX6_ENST00000216083.6_Silent_p.T204T			O95503	CBX6_HUMAN	chromobox homolog 6	222					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GGCGGATCTGTGTACGCAGGA	0.701																																						ENST00000407418.3																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(664-666)acA>acG		chromobox homolog 6							50.0	46.0	48.0					22																	39262787		2203	4300	6503	SO:0001819	synonymous_variant	23466				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex		g.chr22:39262787T>C		CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.666A>G	22.37:g.39262787T>C						CBX6_ENST00000216083.6_Silent_p.T204T	p.T222T			O95503	CBX6_HUMAN			5	789	-	Melanoma(58;0.04)		222					A8KAH0|Q96EM5	Silent	SNP	ENST00000407418.3	37	c.666A>G	CCDS13980.1																																																																																				0.701	CBX6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318190.1	NM_014292		22	105	0	0	0	1	0	22	105				
SLC45A2	51151	broad.mit.edu	37	5	33944930	33944930	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:33944930C>A	ENST00000296589.4	-	7	1562	c.1416G>T	c.(1414-1416)aaG>aaT	p.K472N	SLC45A2_ENST00000342059.3_Missense_Mutation_p.K413N	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	472					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AGTCCATGCCCTTCCCTCTCA	0.597																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000296589.4																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1414-1416)aaG>aaT		solute carrier family 45, member 2							72.0	48.0	56.0					5																	33944930		2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33944930C>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1416G>T	5.37:g.33944930C>A	ENSP00000296589:p.Lys472Asn					SLC45A2_ENST00000342059.3_Missense_Mutation_p.K413N	p.K472N	NM_016180.3	NP_057264.3	Q9UMX9	S45A2_HUMAN			7	1562	-			472					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.1416G>T	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625711	0.46840	.	.	ENSG00000164175	ENST00000296589;ENST00000342059	D;T	0.87491	-2.26;-1.48	5.69	2.91	0.33838	Major facilitator superfamily domain, general substrate transporter (1);	0.211500	0.47455	D	0.000222	D	0.83216	0.5206	L	0.44542	1.39	0.80722	D	1	B	0.27951	0.195	B	0.39027	0.288	T	0.75465	-0.3308	10	0.28530	T	0.3	-10.8437	8.72	0.34434	0.0:0.7049:0.0:0.2951	.	472	Q9UMX9	S45A2_HUMAN	N	472;413	ENSP00000296589:K472N;ENSP00000341014:K413N	ENSP00000296589:K472N	K	-	3	2	SLC45A2	33980687	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.938000	0.28965	0.739000	0.32628	0.655000	0.94253	AAG		0.597	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		9	33	1	0	5.4927e-09	1	5.66993e-09	9	33				
DHX16	8449	broad.mit.edu	37	6	30633512	30633512	+	Splice_Site	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:30633512T>A	ENST00000376442.3	-	5	862		c.e5-2			NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						CTCAGGGACCTGAGTTGGGAA	0.562																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.e5-2		DEAH (Asp-Glu-Ala-His) box polypeptide 16							63.0	65.0	64.0					6																	30633512		1511	2708	4219	SO:0001630	splice_region_variant	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30633512T>A	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.667-2A>T	6.37:g.30633512T>A								NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			5	862	-								O60322|Q5JP45|Q969X7|Q96QC1	Splice_Site	SNP	ENST00000376442.3	37		CCDS4685.1	.	.	.	.	.	.	.	.	.	.	t	19.18	3.778590	0.70107	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7049	0.69183	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DHX16	30741491	1.000000	0.71417	0.985000	0.45067	0.741000	0.42261	7.010000	0.76353	2.112000	0.64535	0.478000	0.44815	.		0.562	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587	Intron	22	67	0	0	0	1	0	22	67				
TJAP1	93643	broad.mit.edu	37	6	43473043	43473043	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:43473043T>C	ENST00000372445.5	+	11	1500	c.1124T>C	c.(1123-1125)gTg>gCg	p.V375A	TJAP1_ENST00000372452.1_Missense_Mutation_p.V365A|TJAP1_ENST00000436109.2_Missense_Mutation_p.V365A|TJAP1_ENST00000372444.2_Missense_Mutation_p.V365A|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372449.1_Missense_Mutation_p.V375A|TJAP1_ENST00000259751.1_Missense_Mutation_p.V365A|TJAP1_ENST00000438588.2_Missense_Mutation_p.V375A	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	375					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			cccagcccagtgcccagcacc	0.687																																						ENST00000372444.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21						c.(1093-1095)gTg>gCg		tight junction associated protein 1 (peripheral)							33.0	36.0	35.0					6																	43473043		2202	4300	6502	SO:0001583	missense	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43473043T>C	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.1124T>C	6.37:g.43473043T>C	ENSP00000361522:p.Val375Ala					TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000438588.2_Missense_Mutation_p.V375A|TJAP1_ENST00000259751.1_Missense_Mutation_p.V365A|TJAP1_ENST00000372445.5_Missense_Mutation_p.V375A|TJAP1_ENST00000372449.1_Missense_Mutation_p.V375A|TJAP1_ENST00000372452.1_Missense_Mutation_p.V365A|TJAP1_ENST00000436109.2_Missense_Mutation_p.V365A	p.V365A	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		11	1527	+	all_lung(25;0.00536)		375					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	c.1094T>C	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.939571	0.00484	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	.	.	.	4.84	-2.94	0.05581	.	1.031410	0.07671	N	0.935533	T	0.17959	0.0431	L	0.53249	1.67	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.36696	-0.9737	9	0.15066	T	0.55	-22.7542	11.2834	0.49208	0.0:0.0645:0.5604:0.3751	.	375;365	Q5JTD0;Q5JTD0-2	TJAP1_HUMAN;.	A	365;375;365;365;365;365;375;375	.	ENSP00000259751:V365A	V	+	2	0	TJAP1	43581021	0.047000	0.20315	0.238000	0.24106	0.149000	0.21700	-0.098000	0.11024	-0.548000	0.06199	0.533000	0.62120	GTG		0.687	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		15	37	0	0	0	1	0	15	37				
TGFBR2	7048	broad.mit.edu	37	3	30713872	30713872	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:30713872G>A	ENST00000295754.5	+	4	1579	c.1197G>A	c.(1195-1197)ggG>ggA	p.G399G	TGFBR2_ENST00000359013.4_Silent_p.G424G	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	399	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GTGACTTTGGGCTTTCCCTGC	0.552																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(1195-1197)ggG>ggA		transforming growth factor, beta receptor II (70/80kDa)							310.0	274.0	286.0					3																	30713872		2203	4300	6503	SO:0001819	synonymous_variant	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713872G>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1197G>A	3.37:g.30713872G>A						TGFBR2_ENST00000359013.4_Silent_p.G424G	p.G399G	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			4	1579	+			399			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Silent	SNP	ENST00000295754.5	37	c.1197G>A	CCDS2648.1																																																																																				0.552	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			7	401	0	0	0	1	0	7	401				
ZNF641	121274	broad.mit.edu	37	12	48737414	48737414	+	Missense_Mutation	SNP	G	G	A	rs144784236	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:48737414G>A	ENST00000544117.2	-	6	1367	c.659C>T	c.(658-660)cCg>cTg	p.P220L	ZNF641_ENST00000301042.3_Missense_Mutation_p.P220L|ZNF641_ENST00000448928.3_Missense_Mutation_p.P197L|ZNF641_ENST00000547026.1_Missense_Mutation_p.P206L			Q96N77	ZN641_HUMAN	zinc finger protein 641	220	Transactivation.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						ATCATGCTCCGGGTTCCAGAG	0.522													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		19955	0.0		0.001	False		,,,				2504	0.0					ENST00000544117.2																			0				breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						c.(658-660)cCg>cTg		zinc finger protein 641							38.0	35.0	36.0					12																	48737414		2203	4300	6503	SO:0001583	missense	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48737414G>A	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.659C>T	12.37:g.48737414G>A	ENSP00000437832:p.Pro220Leu					ZNF641_ENST00000301042.3_Missense_Mutation_p.P220L|ZNF641_ENST00000547026.1_Missense_Mutation_p.P206L|ZNF641_ENST00000448928.3_Missense_Mutation_p.P197L	p.P220L			Q96N77	ZN641_HUMAN			6	1367	-			220			Transactivation.		B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	37	c.659C>T	CCDS8763.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	17.27	3.347599	0.61183	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000448928;ENST00000547026	T;T;T;T	0.08370	3.25;3.25;3.1;3.25	5.6	5.6	0.85130	.	0.211881	0.33813	N	0.004538	T	0.12135	0.0295	L	0.29908	0.895	0.48135	D	0.999594	D;D	0.76494	0.999;0.994	P;P	0.54346	0.749;0.52	T	0.10776	-1.0615	10	0.25106	T	0.35	.	13.1113	0.59275	0.0:0.1609:0.8391:0.0	.	197;220	B4DNU5;Q96N77	.;ZN641_HUMAN	L	220;220;197;206	ENSP00000301042:P220L;ENSP00000437832:P220L;ENSP00000394627:P197L;ENSP00000449974:P206L	ENSP00000301042:P220L	P	-	2	0	ZNF641	47023681	0.183000	0.23186	0.983000	0.44433	0.910000	0.53928	1.168000	0.31859	2.808000	0.96608	0.650000	0.86243	CCG		0.522	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		25	26	0	0	0	1	0	25	26				
TCOF1	6949	broad.mit.edu	37	5	149769567	149769567	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:149769567A>G	ENST00000504761.2	+	19	3164	c.3164A>G	c.(3163-3165)cAg>cGg	p.Q1055R	TCOF1_ENST00000377797.3_Missense_Mutation_p.Q1055R|TCOF1_ENST00000445265.2_Missense_Mutation_p.Q978R|TCOF1_ENST00000451292.1_Missense_Mutation_p.Q1092R|TCOF1_ENST00000323668.7_Missense_Mutation_p.Q978R|TCOF1_ENST00000513346.1_Missense_Mutation_p.Q1092R|TCOF1_ENST00000439160.2_Missense_Mutation_p.Q1055R			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1055					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCAAGAAACAGGAGGGACCA	0.597																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(3274-3276)cAg>cGg		Treacher Collins-Franceschetti syndrome 1							47.0	37.0	41.0					5																	149769567		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149769567A>G		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3164A>G	5.37:g.149769567A>G	ENSP00000421655:p.Gln1055Arg					TCOF1_ENST00000504761.2_Missense_Mutation_p.Q1055R|TCOF1_ENST00000439160.2_Missense_Mutation_p.Q1055R|TCOF1_ENST00000377797.3_Missense_Mutation_p.Q1055R|TCOF1_ENST00000445265.2_Missense_Mutation_p.Q978R|TCOF1_ENST00000323668.7_Missense_Mutation_p.Q978R|TCOF1_ENST00000513346.1_Missense_Mutation_p.Q1092R	p.Q1092R			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		20	3383	+		all_hematologic(541;0.224)	1055					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.3275A>G	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	A	8.201	0.798183	0.16397	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;0.0;-0.84;-0.95;-0.84	4.8	2.39	0.29439	.	0.743246	0.11584	N	0.549423	T	0.59891	0.2227	L	0.36672	1.1	0.09310	N	0.999998	B;B;B;B;B	0.24258	0.1;0.1;0.1;0.061;0.1	B;B;B;B;B	0.24974	0.032;0.057;0.032;0.026;0.057	T	0.44467	-0.9326	10	0.21540	T	0.41	-0.839	4.6557	0.12617	0.6917:0.206:0.1023:0.0	.	1055;978;1055;1055;978	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	R	1092;1055;978;978;1055;1055;1055;1092	ENSP00000400939:Q1092R;ENSP00000367028:Q1055R;ENSP00000409944:Q978R;ENSP00000325223:Q978R;ENSP00000406888:Q1055R;ENSP00000390717:Q1055R;ENSP00000421655:Q1055R;ENSP00000427484:Q1092R	ENSP00000325223:Q978R	Q	+	2	0	TCOF1	149749760	0.937000	0.31787	0.893000	0.35052	0.136000	0.21042	0.662000	0.25038	0.415000	0.25817	0.528000	0.53228	CAG		0.597	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		12	30	0	0	0	1	0	12	30				
KL	9365	broad.mit.edu	37	13	33635745	33635745	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:33635745T>C	ENST00000380099.3	+	4	2537	c.2529T>C	c.(2527-2529)agT>agC	p.S843S	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	843	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ACTCCCCCAGTCAGGTGGCGG	0.478																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(2527-2529)agT>agC		klotho							93.0	93.0	93.0					13																	33635745		2203	4300	6503	SO:0001819	synonymous_variant	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33635745T>C	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2529T>C	13.37:g.33635745T>C						KL_ENST00000487852.1_3'UTR	p.S843S	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	2537	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	843			Glycosyl hydrolase-1 2.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	ENST00000380099.3	37	c.2529T>C	CCDS9347.1																																																																																				0.478	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			5	137	0	0	0	1	0	5	137				
TCHH	7062	broad.mit.edu	37	1	152082725	152082725	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:152082725A>T	ENST00000368804.1	-	2	2967	c.2968T>A	c.(2968-2970)Tac>Aac	p.Y990N		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	990	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcctcgcggtattttttctcc	0.562																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(2968-2970)Tac>Aac		trichohyalin							101.0	105.0	104.0					1																	152082725		1906	4119	6025	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082725A>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2968T>A	1.37:g.152082725A>T	ENSP00000357794:p.Tyr990Asn						p.Y990N	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2967	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		990			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.2968T>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	A	5.077	0.199899	0.09652	.	.	ENSG00000159450	ENST00000368804	T	0.05199	3.48	2.82	-1.65	0.08291	.	.	.	.	.	T	0.01061	0.0035	L	0.29908	0.895	0.09310	N	1	P	0.42827	0.791	B	0.38156	0.266	T	0.41734	-0.9492	9	0.23302	T	0.38	2.8162	2.3974	0.04393	0.3829:0.0:0.2476:0.3695	.	990	Q07283	TRHY_HUMAN	N	990	ENSP00000357794:Y990N	ENSP00000357794:Y990N	Y	-	1	0	TCHH	150349349	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-6.131000	0.00079	-0.699000	0.05077	0.379000	0.24179	TAC		0.562	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		9	216	0	0	0	1	0	9	216				
ZNF610	162963	broad.mit.edu	37	19	52869218	52869218	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:52869218A>G	ENST00000403906.3	+	6	1043	c.587A>G	c.(586-588)tAc>tGc	p.Y196C	ZNF610_ENST00000327920.8_Missense_Mutation_p.Y196C|ZNF610_ENST00000321287.8_Missense_Mutation_p.Y196C|ZNF610_ENST00000601151.1_Missense_Mutation_p.Y153C	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GAGAAAGCATACATTAGAGGA	0.328																																						ENST00000601151.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(457-459)tAc>tGc		zinc finger protein 610							63.0	66.0	65.0					19																	52869218		2200	4299	6499	SO:0001583	missense	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52869218A>G	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.587A>G	19.37:g.52869218A>G	ENSP00000383922:p.Tyr196Cys					ZNF610_ENST00000327920.8_Missense_Mutation_p.Y196C|ZNF610_ENST00000321287.8_Missense_Mutation_p.Y196C|ZNF610_ENST00000403906.3_Missense_Mutation_p.Y196C	p.Y153C	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	5	910	+			196					A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	c.458A>G	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	A	10.16	1.273543	0.23221	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.05382	3.45;3.45	1.82	0.61	0.17580	.	.	.	.	.	T	0.02807	0.0084	N	0.14661	0.345	0.09310	N	1	B;P	0.37101	0.42;0.582	B;B	0.22753	0.041;0.03	T	0.42241	-0.9463	9	0.66056	D	0.02	.	4.4101	0.11429	0.6483:0.3516:0.0:0.0	.	153;196	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	C	196;153;196	ENSP00000383922:Y196C;ENSP00000327597:Y196C	ENSP00000324441:Y153C	Y	+	2	0	ZNF610	57561030	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.535000	0.06142	-0.049000	0.13379	0.383000	0.25322	TAC		0.328	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		10	85	0	0	0	1	0	10	85				
RYR2	6262	broad.mit.edu	37	1	237921019	237921019	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:237921019A>G	ENST00000366574.2	+	82	11585	c.11268A>G	c.(11266-11268)gcA>gcG	p.A3756A	RYR2_ENST00000360064.6_Silent_p.A3762A|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.A3740A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3756					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAATGGTAGCAGCTACTCTGA	0.368																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(11266-11268)gcA>gcG		ryanodine receptor 2 (cardiac)							124.0	121.0	122.0					1																	237921019		1852	4087	5939	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237921019A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11268A>G	1.37:g.237921019A>G						RYR2_ENST00000360064.6_Silent_p.A3762A|RYR2_ENST00000542537.1_Silent_p.A3740A	p.A3756A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		82	11585	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3756					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.11268A>G	CCDS55691.1																																																																																				0.368	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		16	74	0	0	0	1	0	16	74				
TMEM67	91147	broad.mit.edu	37	8	94797542	94797542	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:94797542A>G	ENST00000453321.3	+	12	1282	c.1224A>G	c.(1222-1224)caA>caG	p.Q408Q	TMEM67_ENST00000409623.3_Silent_p.Q327Q	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	408					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ATCAACATCAATATATTTTGG	0.338																																						ENST00000453321.3																			0				breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41						c.(1222-1224)caA>caG		transmembrane protein 67							141.0	149.0	146.0					8																	94797542		2202	4297	6499	SO:0001819	synonymous_variant	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94797542A>G	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.1224A>G	8.37:g.94797542A>G						TMEM67_ENST00000409623.3_Silent_p.Q327Q	p.Q408Q	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		12	1282	+	Breast(36;4.14e-07)		408					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Silent	SNP	ENST00000453321.3	37	c.1224A>G	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	A	4.869	0.161567	0.09287	.	.	ENSG00000164953	ENST00000520680	.	.	.	4.53	-1.03	0.10102	.	.	.	.	.	T	0.18923	0.0454	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23119	-1.0197	4	.	.	.	0.1334	1.1615	0.01807	0.4857:0.1385:0.2339:0.1419	.	.	.	.	V	16	.	.	I	+	1	0	TMEM67	94866718	0.004000	0.15560	0.044000	0.18714	0.900000	0.52787	-0.140000	0.10342	-0.239000	0.09710	0.482000	0.46254	ATA		0.338	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		5	239	0	0	0	1	0	5	239				
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443																																						ENST00000429810.2																			0																																																			0							g.chr16:74372644A>G																													16.37:g.74372644A>G														0	1552	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.443	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			6	55	0	0	0	1	0	6	55				
PTPN13	5783	broad.mit.edu	37	4	87679894	87679894	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:87679894T>C	ENST00000411767.2	+	22	3440	c.3377T>C	c.(3376-3378)gTt>gCt	p.V1126A	PTPN13_ENST00000316707.6_Missense_Mutation_p.V935A|PTPN13_ENST00000436978.1_Missense_Mutation_p.V1126A|PTPN13_ENST00000427191.2_Missense_Mutation_p.V1107A|PTPN13_ENST00000511467.1_Missense_Mutation_p.V1126A			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1126	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATCAGTTCAGTTGCCCCTGGA	0.378																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(3376-3378)gTt>gCt		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							129.0	129.0	129.0					4																	87679894		1853	4101	5954	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87679894T>C		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3377T>C	4.37:g.87679894T>C	ENSP00000407249:p.Val1126Ala					PTPN13_ENST00000511467.1_Missense_Mutation_p.V1126A|PTPN13_ENST00000316707.6_Missense_Mutation_p.V935A|PTPN13_ENST00000411767.2_Missense_Mutation_p.V1126A|PTPN13_ENST00000427191.2_Missense_Mutation_p.V1107A	p.V1126A	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	22	3857	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1126			PDZ 1.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.3377T>C	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532130	0.64972	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.62	5.62	0.85841	PDZ/DHR/GLGF (4);	0.813780	0.10576	N	0.658551	T	0.57272	0.2042	M	0.77103	2.36	0.31725	N	0.637729	B;B;B;B	0.29627	0.252;0.065;0.09;0.036	B;B;B;B	0.30782	0.107;0.07;0.12;0.054	T	0.60073	-0.7334	10	0.16420	T	0.52	.	15.8229	0.78673	0.0:0.0:0.0:1.0	.	935;1107;1126;1126	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	A	1107;1126;935;1126;1126;1075	ENSP00000408368:V1107A;ENSP00000394794:V1126A;ENSP00000322675:V935A;ENSP00000407249:V1126A;ENSP00000426626:V1126A	ENSP00000322675:V935A	V	+	2	0	PTPN13	87898918	1.000000	0.71417	0.710000	0.30468	0.914000	0.54420	7.342000	0.79310	2.130000	0.65690	0.477000	0.44152	GTT		0.378	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			34	107	0	0	0	1	0	34	107				
OBSCN	84033	broad.mit.edu	37	1	228475447	228475447	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:228475447T>C	ENST00000422127.1	+	36	9641	c.9597T>C	c.(9595-9597)ggT>ggC	p.G3199G	OBSCN_ENST00000359599.6_Silent_p.G2046G|OBSCN_ENST00000366707.4_Silent_p.G318G|OBSCN_ENST00000284548.11_Silent_p.G3199G|OBSCN_ENST00000570156.2_Silent_p.G3628G|OBSCN_ENST00000366709.4_Silent_p.G318G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3199	Ig-like 32.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCTGGAGGGTGGTGCTGCCA	0.627																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(10882-10884)ggT>ggC		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							68.0	78.0	74.0					1																	228475447		2185	4278	6463	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228475447T>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9597T>C	1.37:g.228475447T>C						OBSCN_ENST00000366707.4_Silent_p.G318G|OBSCN_ENST00000284548.11_Silent_p.G3199G|OBSCN_ENST00000359599.6_Silent_p.G2046G|OBSCN_ENST00000422127.1_Silent_p.G3199G|OBSCN_ENST00000366709.4_Silent_p.G318G	p.G3628G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			41	10958	+		Prostate(94;0.0405)	2661			Ig-like 37.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.10884T>C	CCDS58065.1																																																																																				0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		13	52	0	0	0	1	0	13	52				
RAPH1	65059	broad.mit.edu	37	2	204309667	204309667	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:204309667A>G	ENST00000319170.5	-	13	1999	c.1700T>C	c.(1699-1701)gTc>gCc	p.V567A	RAPH1_ENST00000374493.3_Missense_Mutation_p.V619A|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000439222.1_Missense_Mutation_p.V592A|RAPH1_ENST00000419464.1_Missense_Mutation_p.V567A|RAPH1_ENST00000374488.2_Missense_Mutation_p.V592A|RAPH1_ENST00000453034.1_Missense_Mutation_p.V619A|RAPH1_ENST00000418114.1_Missense_Mutation_p.V567A|RAPH1_ENST00000374489.2_Missense_Mutation_p.V594A|RAPH1_ENST00000423104.1_Missense_Mutation_p.V594A|RAPH1_ENST00000457812.1_Missense_Mutation_p.V567A|RAPH1_ENST00000308091.4_Missense_Mutation_p.V619A	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	567					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGGAACGGACGTGTCCTGC	0.443																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1699-1701)gTc>gCc		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							148.0	149.0	149.0					2																	204309667		2203	4300	6503	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204309667A>G	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1700T>C	2.37:g.204309667A>G	ENSP00000316543:p.Val567Ala					RAPH1_ENST00000457812.1_Missense_Mutation_p.V567A|RAPH1_ENST00000453034.1_Missense_Mutation_p.V619A|RAPH1_ENST00000439222.1_Missense_Mutation_p.V592A|RAPH1_ENST00000419464.1_Missense_Mutation_p.V567A|RAPH1_ENST00000374488.2_Missense_Mutation_p.V592A|RAPH1_ENST00000374493.3_Missense_Mutation_p.V619A|RAPH1_ENST00000418114.1_Missense_Mutation_p.V567A|RAPH1_ENST00000308091.4_Missense_Mutation_p.V619A|RAPH1_ENST00000423104.1_Missense_Mutation_p.V594A|RAPH1_ENST00000374489.2_Missense_Mutation_p.V594A	p.V567A	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			13	1999	-			567					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.1700T>C	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	A	9.193	1.026614	0.19512	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	T;T;T;T;T;T;T;T;T;T;T	0.42900	0.97;1.71;1.71;0.96;0.96;0.99;0.96;0.97;0.96;0.99;0.97	5.3	2.92	0.33932	.	0.594824	0.14911	N	0.291243	T	0.21103	0.0508	N	0.04636	-0.2	0.18873	N	0.999983	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.17837	-1.0356	10	0.40728	T	0.16	-1.6976	9.6426	0.39848	0.8603:0.0:0.1397:0.0	.	619;619;567	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	A	567;567;619;594;592;619;592;567;594;619;592;567;594	ENSP00000392854:V567A;ENSP00000316543:V567A;ENSP00000363617:V619A;ENSP00000363613:V594A;ENSP00000363612:V592A;ENSP00000311293:V619A;ENSP00000411138:V592A;ENSP00000390578:V567A;ENSP00000397751:V594A;ENSP00000406662:V619A;ENSP00000396711:V567A	ENSP00000311293:V619A	V	-	2	0	RAPH1	204017912	0.572000	0.26668	0.169000	0.22859	0.407000	0.30961	2.867000	0.48428	0.340000	0.23745	0.454000	0.30748	GTC		0.443	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		35	113	0	0	0	1	0	35	113				
DUOX2	50506	broad.mit.edu	37	15	45401114	45401114	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:45401114T>C	ENST00000603300.1	-	12	1473	c.1271A>G	c.(1270-1272)gAc>gGc	p.D424G	DUOX2_ENST00000389039.6_Missense_Mutation_p.D424G	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	424	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGCCACATAGTCTGTACGGGA	0.562																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(1270-1272)gAc>gGc		dual oxidase 2							50.0	53.0	52.0					15																	45401114		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45401114T>C	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1271A>G	15.37:g.45401114T>C	ENSP00000475084:p.Asp424Gly					DUOX2_ENST00000603300.1_Missense_Mutation_p.D424G	p.D424G			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	12	1656	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	424			Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.1271A>G	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.275257	0.80580	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.11	3.97	0.46021	.	0.000000	0.85682	D	0.000000	D	0.85301	0.5665	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86632	0.1886	9	0.87932	D	0	-29.5388	9.8747	0.41195	0.0:0.0821:0.0:0.9179	.	424	Q9NRD8	DUOX2_HUMAN	G	424	.	ENSP00000373691:D424G	D	-	2	0	DUOX2	43188406	1.000000	0.71417	0.862000	0.33874	0.990000	0.78478	7.360000	0.79487	0.784000	0.33661	0.383000	0.25322	GAC		0.562	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		20	51	0	0	0	1	0	20	51				
CCDC88B	283234	broad.mit.edu	37	11	64109585	64109585	+	Silent	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:64109585T>A	ENST00000356786.5	+	8	839	c.795T>A	c.(793-795)gcT>gcA	p.A265A	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	265						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACGCCAAGGCTCAGCTGCGGC	0.677																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(793-795)gcT>gcA		coiled-coil domain containing 88B							12.0	14.0	13.0					11																	64109585		2196	4291	6487	SO:0001819	synonymous_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64109585T>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.795T>A	11.37:g.64109585T>A						CCDC88B_ENST00000463837.1_3'UTR	p.A265A	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			8	839	+			265					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.795T>A	CCDS8072.2																																																																																				0.677	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		10	17	0	0	0	1	0	10	17				
KIAA1429	25962	broad.mit.edu	37	8	95508100	95508100	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:95508100T>C	ENST00000297591.5	-	19	4478	c.4403A>G	c.(4402-4404)gAc>gGc	p.D1468G	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1468					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ATCCAGATTGTCATCATCTTT	0.408																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4402-4404)gAc>gGc		KIAA1429							95.0	83.0	87.0					8																	95508100		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95508100T>C	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4403A>G	8.37:g.95508100T>C	ENSP00000297591:p.Asp1468Gly					KIAA1429_ENST00000437199.1_3'UTR	p.D1468G	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		19	4478	-	Breast(36;3.29e-05)		1468					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.4403A>G	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.302073	0.81136	.	.	ENSG00000164944	ENST00000297591	T	0.68624	-0.34	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.76779	0.4035	L	0.60455	1.87	0.80722	D	1	D	0.64830	0.994	P	0.60886	0.88	T	0.79490	-0.1782	10	0.72032	D	0.01	-12.1108	15.31	0.74023	0.0:0.0:0.0:1.0	.	1468	Q69YN4	VIR_HUMAN	G	1468	ENSP00000297591:D1468G	ENSP00000297591:D1468G	D	-	2	0	KIAA1429	95577276	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.294000	0.78760	2.020000	0.59435	0.528000	0.53228	GAC		0.408	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		28	93	0	0	0	1	0	28	93				
DNAH1	25981	broad.mit.edu	37	3	52416439	52416439	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52416439C>A	ENST00000420323.2	+	50	8170	c.7909C>A	c.(7909-7911)Cta>Ata	p.L2637I		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2637	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTACAGAACCTACCCATCAC	0.577																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(7909-7911)Cta>Ata		dynein, axonemal, heavy chain 1							167.0	174.0	171.0					3																	52416439		2098	4220	6318	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52416439C>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7909C>A	3.37:g.52416439C>A	ENSP00000401514:p.Leu2637Ile						p.L2637I	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	50	8170	+			2637			AAA 4 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.7909C>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	8.337	0.827840	0.16749	.	.	ENSG00000114841	ENST00000420323	T	0.42131	0.98	5.02	4.13	0.48395	.	0.590632	0.14077	N	0.342999	T	0.26991	0.0661	N	0.11284	0.12	0.20196	N	0.99992	B	0.12013	0.005	B	0.18263	0.021	T	0.21211	-1.0252	10	0.48119	T	0.1	.	12.8183	0.57677	0.4197:0.5803:0.0:0.0	.	2637	C9JXH6	.	I	2637	ENSP00000401514:L2637I	ENSP00000401514:L2637I	L	+	1	2	DNAH1	52391479	0.004000	0.15560	0.874000	0.34290	0.233000	0.25261	-0.003000	0.12901	1.060000	0.40578	0.462000	0.41574	CTA		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		8	274	1	0	3.09899e-07	1	3.1815e-07	8	274				
SPATA7	55812	broad.mit.edu	37	14	88904243	88904243	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:88904243A>G	ENST00000393545.4	+	12	1566	c.1277A>G	c.(1276-1278)aAc>aGc	p.N426S	SPATA7_ENST00000045347.7_Missense_Mutation_p.N426S|SPATA7_ENST00000356583.5_Missense_Mutation_p.N394S|SPATA7_ENST00000556553.1_Missense_Mutation_p.N394S	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	426					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TCGGAGGAAAACTCGGTAAAG	0.348																																						ENST00000556553.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						c.(1180-1182)aAc>aGc		spermatogenesis associated 7							81.0	79.0	79.0					14																	88904243		2203	4300	6503	SO:0001583	missense	55812				response to stimulus|visual perception			g.chr14:88904243A>G	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.1277A>G	14.37:g.88904243A>G	ENSP00000377176:p.Asn426Ser					SPATA7_ENST00000045347.7_Missense_Mutation_p.N426S|SPATA7_ENST00000393545.4_Missense_Mutation_p.N426S|SPATA7_ENST00000356583.5_Missense_Mutation_p.N394S	p.N394S			Q9P0W8	SPAT7_HUMAN			12	1740	+			426					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	ENST00000393545.4	37	c.1181A>G	CCDS9883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.39|10.39	1.337624|1.337624	0.24253|0.24253	.|.	.|.	ENSG00000042317|ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000045347;ENST00000554802|ENST00000556406	T;T;T;T|.	0.28255|.	1.87;1.87;1.87;1.62|.	5.63|5.63	0.467|0.467	0.16721|0.16721	.|.	1.025650|.	0.07685|.	N|.	0.937799|.	T|T	0.38746|0.38746	0.1052|0.1052	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.16802|.	0.019;0.008;0.017;0.008|.	B;B;B;B|.	0.17722|.	0.019;0.008;0.007;0.007|.	T|T	0.31641|0.31641	-0.9936|-0.9936	10|5	0.10636|.	T|.	0.68|.	-1.4412|-1.4412	5.3092|5.3092	0.15821|0.15821	0.6212:0.2192:0.1596:0.0|0.6212:0.2192:0.1596:0.0	.|.	426;394;394;426|.	Q9P0W8-3;A8K3L6;Q9P0W8-2;Q9P0W8|.	.;.;.;SPAT7_HUMAN|.	S|A	394;426;394;426;58|84	ENSP00000451128:N394S;ENSP00000377176:N426S;ENSP00000348991:N394S;ENSP00000045347:N426S|.	ENSP00000045347:N426S|.	N|T	+|+	2|1	0|0	SPATA7|SPATA7	87973996|87973996	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.191000|0.191000	0.17076|0.17076	-0.083000|-0.083000	0.12618|0.12618	-0.250000|-0.250000	0.11733|0.11733	AAC|ACT		0.348	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			6	94	0	0	0	1	0	6	94				
CEP170B	283638	broad.mit.edu	37	14	105353441	105353441	+	Silent	SNP	C	C	T	rs375448270		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:105353441C>T	ENST00000414716.3	+	12	3093	c.2865C>T	c.(2863-2865)gaC>gaT	p.D955D	CEP170B_ENST00000418279.1_Silent_p.D885D|CEP170B_ENST00000453495.1_Silent_p.D956D|CEP170B_ENST00000556508.1_Silent_p.D885D	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	955						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GGGACTCGGACGTGGACACAG	0.692																																						ENST00000453495.1																			0											c.(2866-2868)gaC>gaT		centrosomal protein 170B		C	,	1,4243		0,1,2121	31.0	44.0	40.0		2865,2655	-2.9	0.5	14		40	0,8432		0,0,4216	no	coding-synonymous,coding-synonymous	KIAA0284	NM_001112726.2,NM_015005.2	,	0,1,6337	TT,TC,CC		0.0,0.0236,0.0079	,	955/1555,885/1520	105353441	1,12675	2122	4216	6338	SO:0001819	synonymous_variant	283638							g.chr14:105353441C>T	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2865C>T	14.37:g.105353441C>T						CEP170B_ENST00000418279.1_Silent_p.D885D|CEP170B_ENST00000414716.3_Silent_p.D955D|CEP170B_ENST00000556508.1_Silent_p.D885D	p.D956D							12	3096	+								Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.2868C>T	CCDS45175.1																																																																																				0.692	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		18	73	0	0	0	1	0	18	73				
KANK3	256949	broad.mit.edu	37	19	8389336	8389336	+	Silent	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:8389336G>T	ENST00000593649.1	-	10	2444	c.2379C>A	c.(2377-2379)acC>acA	p.T793T	KANK3_ENST00000330915.3_Silent_p.T793T			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	793										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TGCTCACCTGGGTGTCGGGCT	0.587																																						ENST00000330915.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(2377-2379)acC>acA		KN motif and ankyrin repeat domains 3							18.0	18.0	18.0					19																	8389336		2201	4298	6499	SO:0001819	synonymous_variant	256949							g.chr19:8389336G>T	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.2379C>A	19.37:g.8389336G>T						KANK3_ENST00000593649.1_Silent_p.T793T	p.T793T	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN			10	2444	-			793					Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37	c.2379C>A																																																																																					0.587	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		7	11	1	0	2.0095e-06	1	2.05926e-06	7	11				
RHBDF1	64285	broad.mit.edu	37	16	108407	108407	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:108407A>G	ENST00000262316.6	-	18	2642	c.2500T>C	c.(2500-2502)Ttc>Ctc	p.F834L		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	834					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CAGGTGAGGAACTCACACCAC	0.592																																						ENST00000262316.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18						c.(2500-2502)Ttc>Ctc		rhomboid 5 homolog 1 (Drosophila)							130.0	132.0	131.0					16																	108407		2203	4300	6503	SO:0001583	missense	64285				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr16:108407A>G	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.2500T>C	16.37:g.108407A>G	ENSP00000262316:p.Phe834Leu						p.F834L	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN			18	2642	-		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)	834					Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	c.2500T>C	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	12.22	1.873480	0.33069	.	.	ENSG00000007384	ENST00000262316	T	0.47869	0.83	5.06	1.49	0.22878	.	0.293616	0.39407	N	0.001368	T	0.22322	0.0538	N	0.10874	0.06	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04360	-1.0957	10	0.21014	T	0.42	-16.1067	5.7822	0.18312	0.7064:0.1417:0.1519:0.0	.	834	Q96CC6	RHDF1_HUMAN	L	834	ENSP00000262316:F834L	ENSP00000262316:F834L	F	-	1	0	RHBDF1	48407	1.000000	0.71417	0.997000	0.53966	0.849000	0.48306	1.014000	0.29950	0.035000	0.15519	0.477000	0.44152	TTC		0.592	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		16	214	0	0	0	1	0	16	214				
GLE1	2733	broad.mit.edu	37	9	131287588	131287588	+	Nonsense_Mutation	SNP	C	C	T	rs368316357		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:131287588C>T	ENST00000309971.4	+	7	1121	c.1015C>T	c.(1015-1017)Cag>Tag	p.Q339*	GLE1_ENST00000494417.1_3'UTR|GLE1_ENST00000372770.4_Nonsense_Mutation_p.Q339*|GLE1_ENST00000539582.1_Nonsense_Mutation_p.Q85*	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	339					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						CAAGAGGAGGCAGGATGAAGA	0.612																																						ENST00000309971.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1015-1017)Cag>Tag		GLE1 RNA export mediator							60.0	55.0	57.0					9																	131287588		2203	4300	6503	SO:0001587	stop_gained	2733				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding	g.chr9:131287588C>T	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1015C>T	9.37:g.131287588C>T	ENSP00000308622:p.Gln339*					GLE1_ENST00000539582.1_Nonsense_Mutation_p.Q85*|GLE1_ENST00000372770.4_Nonsense_Mutation_p.Q339*|GLE1_ENST00000494417.1_3'UTR	p.Q339*	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN			7	1121	+			339					O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Nonsense_Mutation	SNP	ENST00000309971.4	37	c.1015C>T	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	C	36	5.732742	0.96856	.	.	ENSG00000119392	ENST00000309971;ENST00000372770;ENST00000539582	.	.	.	5.59	3.63	0.41609	.	0.706833	0.14791	N	0.298237	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-5.9201	12.944	0.58362	0.511:0.489:0.0:0.0	.	.	.	.	X	339;339;85	.	ENSP00000308622:Q339X	Q	+	1	0	GLE1	130327409	0.994000	0.37717	0.745000	0.31077	0.920000	0.55202	0.901000	0.28445	1.306000	0.44926	0.462000	0.41574	CAG		0.612	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722		8	46	0	0	0	1	0	8	46				
AGBL4	84871	broad.mit.edu	37	1	49056597	49056597	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:49056597T>C	ENST00000371839.1	-	10	1128	c.1012A>G	c.(1012-1014)Atg>Gtg	p.M338V	AGBL4_ENST00000334103.7_Missense_Mutation_p.M71V	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	338					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		TTGCCATACATGAAGCCATTC	0.463																																						ENST00000371839.1																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						c.(1012-1014)Atg>Gtg		ATP/GTP binding protein-like 4							66.0	67.0	67.0					1																	49056597		1951	4138	6089	SO:0001583	missense	84871				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr1:49056597T>C	AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.1012A>G	1.37:g.49056597T>C	ENSP00000360905:p.Met338Val					AGBL4_ENST00000334103.7_Missense_Mutation_p.M71V	p.M338V	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN		Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)	10	1128	-			338					B3KT26|B4DG37	Missense_Mutation	SNP	ENST00000371839.1	37	c.1012A>G	CCDS44137.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.182910	0.57800	.	.	ENSG00000186094	ENST00000371839;ENST00000411952;ENST00000334103	T;T	0.09911	2.93;2.93	5.79	5.79	0.91817	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.18425	0.0442	L	0.49513	1.565	0.48395	D	0.999641	P;P;P;B;B	0.45768	0.64;0.77;0.866;0.024;0.046	B;B;P;B;B	0.49276	0.334;0.28;0.605;0.021;0.066	T	0.00697	-1.1605	9	.	.	.	-32.4221	15.3033	0.73972	0.0:0.0:0.0:1.0	.	153;350;71;183;338	A0AVJ2;Q5VU57-2;B4DGK1;B1AMW2;Q5VU57	.;.;.;.;CBPC6_HUMAN	V	338;332;71	ENSP00000360905:M338V;ENSP00000335516:M71V	.	M	-	1	0	AGBL4	48829184	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.585000	0.82584	2.215000	0.71742	0.528000	0.53228	ATG		0.463	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785		3	17	0	0	0	1	0	3	17				
PCDHA6	56142	broad.mit.edu	37	5	140209817	140209817	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140209817C>T	ENST00000529310.1	+	1	2255	c.2141C>T	c.(2140-2142)aCg>aTg	p.T714M	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	714					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T714M(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTCCTCACGCTACTGCTG	0.706																																						ENST00000529310.1																			2	Substitution - Missense(2)	p.T714M(2)	breast(2)	NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2140-2142)aCg>aTg									56.0	56.0	56.0					5																	140209817		2201	4298	6499	SO:0001583	missense	56142							g.chr5:140209817C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2141C>T	5.37:g.140209817C>T	ENSP00000433378:p.Thr714Met					PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.T714M	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2255	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.2141C>T	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	7.241	0.601231	0.13939	.	.	ENSG00000081842	ENST00000529310	T	0.14516	2.5	4.12	-1.33	0.09172	.	0.217169	0.21872	U	0.067861	T	0.17023	0.0409	M	0.93978	3.48	0.09310	N	0.999999	B;P	0.51537	0.255;0.946	B;B	0.37304	0.052;0.246	T	0.23547	-1.0185	10	0.72032	D	0.01	.	3.1076	0.06347	0.1215:0.5406:0.1185:0.2195	.	714;714	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	M	714	ENSP00000433378:T714M	ENSP00000433378:T714M	T	+	2	0	PCDHA6	140190001	.	.	0.240000	0.24138	0.022000	0.10575	.	.	-0.081000	0.12662	-0.683000	0.03753	ACG		0.706	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		5	176	0	0	0	1	0	5	176				
TAF7	6879	broad.mit.edu	37	5	140698689	140698689	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140698689T>A	ENST00000313368.5	-	1	1641	c.923A>T	c.(922-924)aAa>aTa	p.K308I		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	308					DNA-templated transcription, initiation (GO:0006352)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of histone acetylation (GO:0035067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermine transport (GO:0000296)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	histone acetyltransferase binding (GO:0035035)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|vitamin D receptor binding (GO:0042809)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTTCCACTTTCATGATGAG	0.453																																						ENST00000313368.5																			0				central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12						c.(922-924)aAa>aTa		TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa							129.0	116.0	120.0					5																	140698689		2203	4300	6503	SO:0001583	missense	6879				negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding	g.chr5:140698689T>A	AF349038	CCDS4259.1	5q31	2008-02-05	2002-08-29	2001-12-07	ENSG00000178913	ENSG00000178913			11541	protein-coding gene	gene with protein product		600573	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD"""	TAF2F		7824954	Standard	NM_005642		Approved	TAFII55	uc003ljg.3	Q15545	OTTHUMG00000129628	ENST00000313368.5:c.923A>T	5.37:g.140698689T>A	ENSP00000312709:p.Lys308Ile						p.K308I	NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1641	-			308					B2RBV9|Q13036	Missense_Mutation	SNP	ENST00000313368.5	37	c.923A>T	CCDS4259.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959095	0.74016	.	.	ENSG00000178913	ENST00000313368	T	0.27557	1.66	4.3	4.3	0.51218	.	0.049603	0.85682	D	0.000000	T	0.50240	0.1604	M	0.74881	2.28	0.50632	D	0.999881	D	0.71674	0.998	P	0.61477	0.889	T	0.55903	-0.8067	10	0.87932	D	0	-8.7341	11.7568	0.51880	0.0:0.0:0.0:1.0	.	308	Q15545	TAF7_HUMAN	I	308	ENSP00000312709:K308I	ENSP00000312709:K308I	K	-	2	0	TAF7	140678873	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.251000	0.78297	1.939000	0.56221	0.533000	0.62120	AAA		0.453	TAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251823.2	NM_005642		3	29	0	0	0	1	0	3	29				
SFXN1	94081	broad.mit.edu	37	5	174940534	174940534	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:174940534C>T	ENST00000321442.5	+	7	919	c.665C>T	c.(664-666)gCg>gTg	p.A222V		NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	222					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCGAACGCTGCGAAACAAGCC	0.517																																						ENST00000321442.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15						c.(664-666)gCg>gTg		sideroflexin 1							110.0	100.0	103.0					5																	174940534		2203	4300	6503	SO:0001583	missense	94081				iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding	g.chr5:174940534C>T	AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"""Sideroflexins"""	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.665C>T	5.37:g.174940534C>T	ENSP00000316905:p.Ala222Val						p.A222V	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		7	919	+	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	222					B3KPW3|D3DQN2|Q9HA53	Missense_Mutation	SNP	ENST00000321442.5	37	c.665C>T	CCDS4394.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038973	0.75617	.	.	ENSG00000164466	ENST00000321442	T	0.41065	1.01	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.66548	0.2800	M	0.93241	3.395	0.80722	D	1	P	0.50443	0.935	P	0.51385	0.668	T	0.78137	-0.2321	10	0.87932	D	0	-24.8844	17.5333	0.87820	0.0:1.0:0.0:0.0	.	222	Q9H9B4	SFXN1_HUMAN	V	222	ENSP00000316905:A222V	ENSP00000316905:A222V	A	+	2	0	SFXN1	174873140	1.000000	0.71417	0.193000	0.23327	0.034000	0.12701	7.572000	0.82409	2.434000	0.82447	0.462000	0.41574	GCG		0.517	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252980.2	NM_022754		11	57	0	0	0	1	0	11	57				
EIF4G1	1981	broad.mit.edu	37	3	184038716	184038716	+	Splice_Site	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:184038716C>T	ENST00000346169.2	+	9	903	c.632C>T	c.(631-633)aCg>aTg	p.T211M	EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Splice_Site_p.T15M|EIF4G1_ENST00000382330.3_Splice_Site_p.T218M|EIF4G1_ENST00000411531.1_Splice_Site_p.T171M|EIF4G1_ENST00000392537.2_Splice_Site_p.T124M|EIF4G1_ENST00000342981.4_Splice_Site_p.T211M|EIF4G1_ENST00000350481.5_Splice_Site_p.T47M|EIF4G1_ENST00000424196.1_Splice_Site_p.T218M|EIF4G1_ENST00000441154.1_Splice_Site_p.T47M|EIF4G1_ENST00000352767.3_Splice_Site_p.T218M|EIF4G1_ENST00000319274.6_Splice_Site_p.T211M|EIF4G1_ENST00000427845.1_Splice_Site_p.T124M|EIF4G1_ENST00000434061.2_Splice_Site_p.T15M|EIF4G1_ENST00000414031.1_Splice_Site_p.T171M	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	211					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTCCTGCAGACGGGAGGCGGT	0.532																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.e8-1		eukaryotic translation initiation factor 4 gamma, 1							44.0	42.0	43.0					3																	184038716		2203	4300	6503	SO:0001630	splice_region_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184038716C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.631-1C>T	3.37:g.184038716C>T						EIF4G1_ENST00000382330.3_Splice_Site_p.T218_splice|EIF4G1_ENST00000435046.2_Splice_Site_p.T15_splice|EIF4G1_ENST00000411531.1_Splice_Site_p.T171_splice|EIF4G1_ENST00000346169.2_Splice_Site_p.T211_splice|EIF4G1_ENST00000392537.2_Splice_Site_p.T124_splice|EIF4G1_ENST00000352767.3_Splice_Site_p.T218_splice|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Splice_Site_p.T218_splice|EIF4G1_ENST00000434061.2_Splice_Site_p.T15_splice|EIF4G1_ENST00000441154.1_Splice_Site_p.T47_splice|EIF4G1_ENST00000427845.1_Splice_Site_p.T124_splice|EIF4G1_ENST00000319274.6_Splice_Site_p.T211_splice|EIF4G1_ENST00000350481.5_Splice_Site_p.T47_splice|EIF4G1_ENST00000414031.1_Splice_Site_p.T171_splice	p.T211_splice	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	1046	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		211					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Splice_Site	SNP	ENST00000346169.2	37	c.630_splice	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282833	0.59867	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000444134;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000428387;ENST00000434061;ENST00000427607;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54071	2.01;2.01;2.01;0.6;2.01;2.01;2.01;2.01;3.63;2.01;2.01;2.01;2.01;2.01;2.01;2.29;3.62;0.62;3.68;0.59;1.2;3.69	5.54	4.67	0.58626	.	0.334344	0.27811	N	0.017748	T	0.38612	0.1047	L	0.27053	0.805	0.43164	D	0.994954	B;B;B;B	0.23735	0.037;0.037;0.037;0.09	B;B;B;B	0.15870	0.01;0.01;0.01;0.014	T	0.21109	-1.0255	10	0.33940	T	0.23	-3.1885	12.6934	0.56988	0.0:0.9234:0.0:0.0766	.	218;211;211;218	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	M	211;171;124;15;211;218;218;152;47;218;124;211;211;218;171;47;47;15;15;15;15;15	ENSP00000316879:T211M;ENSP00000391935:T171M;ENSP00000376320:T124M;ENSP00000407244:T15M;ENSP00000391412:T211M;ENSP00000413159:T218M;ENSP00000371767:T218M;ENSP00000403269:T152M;ENSP00000317600:T47M;ENSP00000338020:T218M;ENSP00000407682:T124M;ENSP00000343450:T211M;ENSP00000323737:T211M;ENSP00000416255:T218M;ENSP00000395974:T171M;ENSP00000398145:T47M;ENSP00000399858:T47M;ENSP00000411707:T15M;ENSP00000411826:T15M;ENSP00000409545:T15M;ENSP00000399969:T15M;ENSP00000404754:T15M	ENSP00000323737:T211M	T	+	2	0	EIF4G1	185521410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.421000	0.52742	1.577000	0.49804	0.655000	0.94253	ACG		0.532	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	Missense_Mutation	13	32	0	0	0	1	0	13	32				
LRRC36	55282	broad.mit.edu	37	16	67381419	67381419	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67381419G>A	ENST00000329956.6	+	4	432	c.413G>A	c.(412-414)gGt>gAt	p.G138D	LRRC36_ENST00000435835.3_Missense_Mutation_p.G17D|LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000563303.1_3'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.G17D|LRRC36_ENST00000541146.1_5'UTR	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	138	LRRCT.									endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GTACGTGAAGGTGAGAGAAAA	0.368																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(412-414)gGt>gAt		leucine rich repeat containing 36							95.0	92.0	93.0					16																	67381419		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67381419G>A	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.413G>A	16.37:g.67381419G>A	ENSP00000329943:p.Gly138Asp					LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.G17D|LRRC36_ENST00000563303.1_3'UTR|LRRC36_ENST00000435835.3_Missense_Mutation_p.G17D	p.G138D	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	4	432	+		Ovarian(137;0.192)	138			LRRCT.		A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.413G>A	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803474	0.50315	.	.	ENSG00000159708	ENST00000329956;ENST00000435835	T;T	0.31247	3.38;1.5	5.41	3.44	0.39384	.	0.268051	0.40818	N	0.001018	T	0.16685	0.0401	N	0.12182	0.205	0.80722	D	1	B;B;B	0.19200	0.034;0.034;0.034	B;B;B	0.21917	0.037;0.037;0.037	T	0.05273	-1.0895	10	0.52906	T	0.07	-3.6215	7.627	0.28218	0.1878:0.0:0.8122:0.0	.	17;17;138	B7Z7B3;Q1X8D7-2;Q1X8D7	.;.;LRC36_HUMAN	D	138;17	ENSP00000329943:G138D;ENSP00000411122:G17D	ENSP00000329943:G138D	G	+	2	0	LRRC36	65938920	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.411000	0.52672	1.437000	0.47472	-0.136000	0.14681	GGT		0.368	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		4	81	0	0	0	1	0	4	81				
COL11A2	1302	broad.mit.edu	37	6	33139529	33139529	+	Silent	SNP	C	C	T	rs146093235	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:33139529C>T	ENST00000374708.4	-	40	3111	c.2853G>A	c.(2851-2853)ccG>ccA	p.P951P	COL11A2_ENST00000395197.1_Silent_p.P977P|COL11A2_ENST00000374713.1_Silent_p.P990P|COL11A2_ENST00000361917.1_Silent_p.P930P|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Silent_p.P1016P|COL11A2_ENST00000341947.2_Silent_p.P1037P|COL11A2_ENST00000374714.1_Silent_p.P1011P|COL11A2_ENST00000374712.1_Silent_p.P956P	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1037	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGGACCCTGCGGGCCTGGGC	0.657																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(3109-3111)ccG>ccA		collagen, type XI, alpha 2							23.0	25.0	24.0					6																	33139529		1511	2709	4220	SO:0001819	synonymous_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33139529C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2853G>A	6.37:g.33139529C>T						COL11A2_ENST00000374708.4_Silent_p.P951P|COL11A2_ENST00000374712.1_Silent_p.P956P|COL11A2_ENST00000395197.1_Silent_p.P977P|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Silent_p.P1016P|COL11A2_ENST00000361917.1_Silent_p.P930P|COL11A2_ENST00000374714.1_Silent_p.P1011P|COL11A2_ENST00000374713.1_Silent_p.P990P	p.P1037P	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			42	3338	-			1037			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	c.3111G>A	CCDS43452.1																																																																																				0.657	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			16	35	0	0	0	1	0	16	35				
CELSR2	1952	broad.mit.edu	37	1	109793467	109793467	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:109793467G>A	ENST00000271332.3	+	1	827	c.766G>A	c.(766-768)Gtc>Atc	p.V256I		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	256	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAGCACCCACGTCTTCAGGGT	0.582																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(766-768)Gtc>Atc		cadherin, EGF LAG seven-pass G-type receptor 2							121.0	98.0	106.0					1																	109793467		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109793467G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.766G>A	1.37:g.109793467G>A	ENSP00000271332:p.Val256Ile						p.V256I	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	827	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	256			Cadherin 1.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.766G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	22.6	4.305904	0.81247	.	.	ENSG00000143126	ENST00000271332	T	0.01767	4.65	4.85	4.85	0.62838	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02727	0.0082	L	0.38733	1.17	0.41458	D	0.988029	D	0.89917	1.0	D	0.76575	0.988	T	0.69731	-0.5066	9	0.23891	T	0.37	.	14.72	0.69300	0.0:0.0:0.8551:0.1449	.	256	Q9HCU4	CELR2_HUMAN	I	256	ENSP00000271332:V256I	ENSP00000271332:V256I	V	+	1	0	CELSR2	109594990	1.000000	0.71417	0.974000	0.42286	0.955000	0.61496	4.574000	0.60900	2.538000	0.85594	0.555000	0.69702	GTC		0.582	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		33	67	0	0	0	1	0	33	67				
SHPRH	257218	broad.mit.edu	37	6	146247394	146247394	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:146247394T>C	ENST00000367505.2	-	16	3504	c.3240A>G	c.(3238-3240)atA>atG	p.I1080M	SHPRH_ENST00000438092.2_Missense_Mutation_p.I1089M|SHPRH_ENST00000275233.7_Missense_Mutation_p.I1080M|SHPRH_ENST00000367503.3_Missense_Mutation_p.I1089M			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1080					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GGTGCCTGGCTATCAACAATT	0.388																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(3265-3267)atA>atG		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							119.0	113.0	115.0					6																	146247394		1895	4115	6010	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146247394T>C	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.3240A>G	6.37:g.146247394T>C	ENSP00000356475:p.Ile1080Met					SHPRH_ENST00000367505.2_Missense_Mutation_p.I1080M|SHPRH_ENST00000275233.7_Missense_Mutation_p.I1080M|SHPRH_ENST00000438092.2_Missense_Mutation_p.I1089M	p.I1089M	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	16	3665	-		Ovarian(120;0.0365)	1080					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.3267A>G	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	T	10.93	1.489840	0.26686	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.73258	-0.72;-0.73;-0.72;-0.72	5.62	0.491	0.16867	.	1.351550	0.04810	N	0.435109	T	0.24160	0.0585	N	0.08118	0	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.002	B;B;B	0.08055	0.0;0.001;0.003	T	0.10917	-1.0609	10	0.46703	T	0.11	0.8581	1.9529	0.03370	0.1221:0.2864:0.1262:0.4653	.	279;1080;1089	B3KX98;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	M	1080;1089;1089;1080	ENSP00000356475:I1080M;ENSP00000356473:I1089M;ENSP00000412797:I1089M;ENSP00000275233:I1080M	ENSP00000275233:I1080M	I	-	3	3	SHPRH	146289087	0.528000	0.26314	0.086000	0.20670	0.910000	0.53928	0.861000	0.27885	-0.129000	0.11620	0.477000	0.44152	ATA		0.388	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		29	96	0	0	0	1	0	29	96				
PRSS27	83886	broad.mit.edu	37	16	2765775	2765775	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2765775G>A	ENST00000302641.3	-	3	234	c.180C>T	c.(178-180)tgC>tgT	p.C60C	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	60	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						GGCTGCCCCCGCAGAAGTGGC	0.697																																						ENST00000302641.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(178-180)tgC>tgT		protease, serine 27							11.0	12.0	12.0					16																	2765775		2124	4195	6319	SO:0001819	synonymous_variant	83886				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2765775G>A	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"""Serine peptidases / Serine peptidases"""	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.180C>T	16.37:g.2765775G>A							p.C60C	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN			3	234	-			60			Peptidase S1.			Silent	SNP	ENST00000302641.3	37	c.180C>T	CCDS10476.1																																																																																				0.697	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		4	19	0	0	0	1	0	4	19				
ATAD2	29028	broad.mit.edu	37	8	124359353	124359353	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:124359353T>C	ENST00000287394.5	-	16	2298	c.2191A>G	c.(2191-2193)Aca>Gca	p.T731A	ATAD2_ENST00000521903.1_Missense_Mutation_p.T49A|MIR548AA1_ENST00000384971.2_RNA	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	731					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTTTTATTTGTTCTGAATTCT	0.353																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(2191-2193)Aca>Gca		ATPase family, AAA domain containing 2							90.0	92.0	91.0					8																	124359353		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124359353T>C	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2191A>G	8.37:g.124359353T>C	ENSP00000287394:p.Thr731Ala					ATAD2_ENST00000521903.1_Missense_Mutation_p.T49A	p.T731A	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		16	2298	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		731					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.2191A>G	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	T	0.658	-0.806887	0.02819	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;T	0.91464	-2.85;1.58	5.49	0.47	0.16747	.	0.606514	0.16649	N	0.205308	T	0.70824	0.3268	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60291	-0.7292	10	0.15499	T	0.54	-1.8948	6.9098	0.24329	0.0:0.2633:0.1645:0.5722	.	731	Q6PL18	ATAD2_HUMAN	A	731;49	ENSP00000287394:T731A;ENSP00000429213:T49A	ENSP00000287394:T731A	T	-	1	0	ATAD2	124428534	0.013000	0.17824	0.044000	0.18714	0.943000	0.58893	0.995000	0.29706	0.127000	0.18452	0.482000	0.46254	ACA		0.353	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		16	95	0	0	0	1	0	16	95				
NPEPPS	9520	broad.mit.edu	37	17	45689927	45689927	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:45689927G>A	ENST00000322157.4	+	18	2434	c.2197G>A	c.(2197-2199)Gtg>Atg	p.V733M	RP11-580I16.2_ENST00000582066.1_RNA|NPEPPS_ENST00000544660.1_Missense_Mutation_p.V653M|RP11-580I16.2_ENST00000582389.1_RNA|NPEPPS_ENST00000530173.1_Missense_Mutation_p.V729M	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	733					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TAAGGACCACGTGGAAGGAAA	0.458																																						ENST00000322157.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						c.(2197-2199)Gtg>Atg		aminopeptidase puromycin sensitive							104.0	103.0	103.0					17																	45689927		1868	4108	5976	SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45689927G>A	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.2197G>A	17.37:g.45689927G>A	ENSP00000320324:p.Val733Met					RP11-580I16.2_ENST00000582389.1_RNA|RP11-580I16.2_ENST00000582066.1_RNA|NPEPPS_ENST00000530173.1_Missense_Mutation_p.V729M|NPEPPS_ENST00000544660.1_Missense_Mutation_p.V653M	p.V733M	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN			18	2434	+			733					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.2197G>A	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007498	0.93287	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000544660	T;T;T	0.05513	3.43;3.43;3.43	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.08891	0.0220	L	0.51422	1.61	0.80722	D	1	P;P;P	0.39250	0.642;0.665;0.642	B;B;B	0.37650	0.112;0.255;0.169	T	0.35699	-0.9778	10	0.15066	T	0.55	.	18.9979	0.92821	0.0:0.0:1.0:0.0	.	729;416;733	E9PLK3;B7Z1H4;P55786	.;.;PSA_HUMAN	M	729;733;653	ENSP00000433287:V729M;ENSP00000320324:V733M;ENSP00000442461:V653M	ENSP00000320324:V733M	V	+	1	0	NPEPPS	43044926	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.836000	0.99456	2.474000	0.83562	0.650000	0.86243	GTG		0.458	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		22	52	0	0	0	1	0	22	52				
CDC25C	995	broad.mit.edu	37	5	137666820	137666820	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:137666820G>T	ENST00000323760.6	-	2	328	c.50C>A	c.(49-51)tCa>tAa	p.S17*	CDC25C_ENST00000356505.3_Nonsense_Mutation_p.S17*|CDC25C_ENST00000357274.3_Nonsense_Mutation_p.S17*|CDC25C_ENST00000513970.1_Nonsense_Mutation_p.S17*|CDC25C_ENST00000415130.2_Nonsense_Mutation_p.S17*|CDC25C_ENST00000348983.3_Nonsense_Mutation_p.S17*|CDC25C_ENST00000514555.1_Nonsense_Mutation_p.S17*	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	17					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACTGGGTCCTGAGCCAGAGCT	0.463																																						ENST00000323760.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16						c.(49-51)tCa>tAa		cell division cycle 25C							92.0	88.0	89.0					5																	137666820		2203	4300	6503	SO:0001587	stop_gained	995				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding	g.chr5:137666820G>T	M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.50C>A	5.37:g.137666820G>T	ENSP00000321656:p.Ser17*					CDC25C_ENST00000415130.2_Nonsense_Mutation_p.S17*|CDC25C_ENST00000357274.3_Nonsense_Mutation_p.S17*|CDC25C_ENST00000356505.3_Nonsense_Mutation_p.S17*|CDC25C_ENST00000348983.3_Nonsense_Mutation_p.S17*|CDC25C_ENST00000514555.1_Nonsense_Mutation_p.S17*|CDC25C_ENST00000513970.1_Nonsense_Mutation_p.S17*	p.S17*	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	328	-			17					D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Nonsense_Mutation	SNP	ENST00000323760.6	37	c.50C>A	CCDS4202.1	.	.	.	.	.	.	.	.	.	.	g	38	6.702283	0.97776	.	.	ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000357274;ENST00000348983;ENST00000415130;ENST00000513970;ENST00000534892;ENST00000514555;ENST00000503022;ENST00000510119	.	.	.	4.14	1.35	0.21983	.	0.968673	0.08451	N	0.943914	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.285	3.76	0.08601	0.2029:0.0:0.6057:0.1914	.	.	.	.	X	17;17;17;17;17;17;34;17;17;34	.	ENSP00000321656:S17X	S	-	2	0	CDC25C	137694719	0.067000	0.21026	0.333000	0.25482	0.850000	0.48378	0.920000	0.28705	0.286000	0.22352	-0.119000	0.15052	TCA		0.463	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1			41	78	1	0	1.48646e-12	1	1.5486e-12	41	78				
SLC52A2	79581	broad.mit.edu	37	8	145584251	145584251	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145584251T>C	ENST00000532887.1	+	4	1586	c.1003T>C	c.(1003-1005)Tcc>Ccc	p.S335P	SLC52A2_ENST00000329994.2_Splice_Site_p.S335P|SLC52A2_ENST00000527078.1_Splice_Site_p.S335P|SLC52A2_ENST00000402965.1_Splice_Site_p.S335P|FBXL6_ENST00000331890.5_5'Flank|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Splice_Site_p.S335P|SLC52A2_ENST00000540505.1_Splice_Site_p.S247P			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	335					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	TCACTGCAGGTCCTTGGCAGG	0.687																																						ENST00000532887.1																			0											c.e4-1		solute carrier family 52 (riboflavin transporter), member 2							55.0	61.0	59.0					8																	145584251		2202	4300	6502	SO:0001630	splice_region_variant	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145584251T>C	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.1002-1T>C	8.37:g.145584251T>C						SLC52A2_ENST00000329994.2_Splice_Site_p.S335_splice|SLC52A2_ENST00000540505.1_Splice_Site_p.S247_splice|SLC52A2_ENST00000527078.1_Splice_Site_p.S335_splice|SLC52A2_ENST00000402965.1_Splice_Site_p.S335_splice|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000530047.1_Splice_Site_p.S335_splice	p.S335_splice			Q9HAB3	RFT3_HUMAN			4	1586	+			335					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Splice_Site	SNP	ENST00000532887.1	37	c.1001_splice	CCDS6423.1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.691333	0.48097	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	4.69	3.5	0.40072	.	0.194287	0.46145	D	0.000316	D	0.89424	0.6711	M	0.88310	2.945	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.88702	0.3216	10	0.87932	D	0	.	8.7786	0.34778	0.1692:0.0:0.0:0.8308	.	335	Q9HAB3	RFT3_HUMAN	P	335;335;335;335;335;247	ENSP00000435820:S335P;ENSP00000434728:S335P;ENSP00000385961:S335P;ENSP00000436768:S335P;ENSP00000333638:S335P;ENSP00000440400:S247P	ENSP00000333638:S335P	S	+	1	0	GPR172A	145555059	1.000000	0.71417	0.995000	0.50966	0.039000	0.13416	4.986000	0.63851	0.623000	0.30267	0.379000	0.24179	TCC		0.687	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531	Missense_Mutation	45	141	0	0	0	1	0	45	141				
TBC1D29	26083	broad.mit.edu	37	17	28890430	28890430	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:28890430G>T	ENST00000580161.1	+	6	2937	c.440G>T	c.(439-441)aGg>aTg	p.R147M	TBC1D29_ENST00000579181.1_Missense_Mutation_p.R147M|TBC1D29_ENST00000584297.1_3'UTR|RP11-218M11.1_ENST00000563063.1_lincRNA			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	147							Rab GTPase activator activity (GO:0005097)			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				agatgtggcaggataataggg	0.483																																						ENST00000580161.1																			0				breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(439-441)aGg>aTg		TBC1 domain family, member 29							40.0	35.0	37.0					17																	28890430		2203	4300	6503	SO:0001583	missense	26083					intracellular	Rab GTPase activator activity	g.chr17:28890430G>T	BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.440G>T	17.37:g.28890430G>T	ENSP00000462799:p.Arg147Met					TBC1D29_ENST00000584297.1_3'UTR|TBC1D29_ENST00000579181.1_Missense_Mutation_p.R147M	p.R147M			Q9UFV1	TBC29_HUMAN			6	2937	+		Myeloproliferative disorder(56;0.0255)	147						Missense_Mutation	SNP	ENST00000580161.1	37	c.440G>T	CCDS32606.1	.	.	.	.	.	.	.	.	.	.	.	10.20	1.286090	0.23478	.	.	ENSG00000197689	ENST00000329040	.	.	.	.	.	.	.	.	.	.	.	T	0.23133	0.0559	N	0.08118	0	0.09310	N	1	P	0.49696	0.927	P	0.52554	0.702	T	0.11817	-1.0572	5	0.87932	D	0	.	.	.	.	.	147	Q9UFV1	TBC29_HUMAN	M	147	.	ENSP00000330052:R147M	R	+	2	0	TBC1D29	25914556	0.040000	0.19996	.	.	.	.	0.136000	0.15974	.	.	.	.	AGG		0.483	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443632.1	NM_015594		6	18	1	0	0.00116845	1	0.00118101	6	18				
TAF9	6880	broad.mit.edu	37	5	68662584	68662584	+	De_novo_Start_OutOfFrame	SNP	T	T	C	rs368798703		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:68662584T>C	ENST00000506736.1	-	0	64				TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000217893.5_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000328663.4_Intron|TAF9_ENST00000502819.1_Intron|RAD17_ENST00000361732.2_5'Flank			Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa						cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|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)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		TTAGCAATCATATGTAAAAtt	0.433																																						ENST00000506736.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8								TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa																																						6880					Cajal body	adenylate kinase activity|ATP binding|protein binding	g.chr5:68662584T>C	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000506736.1:c.-272A>G	5.37:g.68662584T>C						TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000217893.5_Intron|TAF9_ENST00000328663.4_Intron|TAF9_ENST00000512561.1_Intron				Q9Y3D8	KAD6_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	0	64	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)						D3DWA3|Q5U0D1|Q9BTS1	Translation_Start_Site	SNP	ENST00000506736.1	37		CCDS4002.1																																																																																				0.433	TAF9-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369182.1	NM_003187		4	4	0	0	0	1	0	4	4				
ABCA4	24	broad.mit.edu	37	1	94496004	94496004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:94496004G>T	ENST00000370225.3	-	29	4418	c.4332C>A	c.(4330-4332)tgC>tgA	p.C1444*		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1444					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTTCCTTCAGGCAGCGGTTGC	0.567																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(4330-4332)tgC>tgA		ATP-binding cassette, sub-family A (ABC1), member 4							118.0	106.0	110.0					1																	94496004		2203	4300	6503	SO:0001587	stop_gained	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94496004G>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4332C>A	1.37:g.94496004G>T	ENSP00000359245:p.Cys1444*						p.C1444*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	29	4418	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1444					O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	ENST00000370225.3	37	c.4332C>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	43	10.506745	0.99418	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	.	.	.	4.65	1.72	0.24424	.	0.208232	0.51477	D	0.000084	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4347	0.32780	0.404:0.0:0.596:0.0	.	.	.	.	X	236;1444	.	ENSP00000359245:C1444X	C	-	3	2	ABCA4	94268592	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	1.802000	0.38853	0.200000	0.20447	-0.221000	0.12465	TGC		0.567	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		5	85	1	0	0.00116845	1	0.00118101	5	85				
C10orf71	118461	broad.mit.edu	37	10	50531538	50531538	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:50531538T>C	ENST00000374144.3	+	3	1236	c.948T>C	c.(946-948)tgT>tgC	p.C316C	C10orf71_ENST00000323868.4_Silent_p.C316C			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	316										endometrium(1)	1						GAGAACCCTGTCCTCCTGAGC	0.572																																						ENST00000374144.3																			0				endometrium(1)	1						c.(946-948)tgT>tgC		chromosome 10 open reading frame 71							66.0	74.0	71.0					10																	50531538		2052	4198	6250	SO:0001819	synonymous_variant	118461							g.chr10:50531538T>C	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.948T>C	10.37:g.50531538T>C						C10orf71_ENST00000323868.4_Silent_p.C316C	p.C316C			Q711Q0	CJ071_HUMAN			3	1236	+			316					A0AVL8	Silent	SNP	ENST00000374144.3	37	c.948T>C	CCDS44387.1																																																																																				0.572	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		4	44	0	0	0	1	0	4	44				
NCOA2	10499	broad.mit.edu	37	8	71053559	71053559	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:71053559A>G	ENST00000452400.2	-	14	3069	c.2888T>C	c.(2887-2889)gTc>gCc	p.V963A	NCOA2_ENST00000267974.4_Missense_Mutation_p.V51A	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	963					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AGCACAGGTGACTCTCACAGC	0.562			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(2887-2889)gTc>gCc		nuclear receptor coactivator 2							61.0	65.0	64.0					8																	71053559		2076	4227	6303	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71053559A>G	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2888T>C	8.37:g.71053559A>G	ENSP00000399968:p.Val963Ala					NCOA2_ENST00000267974.4_Missense_Mutation_p.V51A	p.V963A	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		14	3069	-	Breast(64;0.201)		963					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.2888T>C	CCDS47872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.063|9.063	0.994983|0.994983	0.19043|0.19043	.|.	.|.	ENSG00000140396|ENSG00000140396	ENST00000518363|ENST00000452400;ENST00000267974	.|T;T	.|0.06608	.|4.82;3.28	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.498297	.|0.22078	.|N	.|0.064936	T|T	0.04543|0.04543	0.0124|0.0124	L|L	0.31207|0.31207	0.915|0.915	0.27167|0.27167	N|N	0.961015|0.961015	.|B;B	.|0.18610	.|0.029;0.006	.|B;B	.|0.15870	.|0.014;0.002	T|T	0.40251|0.40251	-0.9573|-0.9573	5|10	.|0.02654	.|T	.|1	.|.	10.5019|10.5019	0.44810|0.44810	0.9275:0.0:0.0725:0.0|0.9275:0.0:0.0725:0.0	.|.	.|51;963	.|F8WAJ2;Q15596	.|.;NCOA2_HUMAN	P|A	64|963;51	.|ENSP00000399968:V963A;ENSP00000267974:V51A	.|ENSP00000267974:V51A	S|V	-|-	1|2	0|0	NCOA2|NCOA2	71216113|71216113	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.441000|2.441000	0.44864|0.44864	2.275000|2.275000	0.75901|0.75901	0.528000|0.528000	0.53228|0.53228	TCA|GTC		0.562	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			13	54	0	0	0	1	0	13	54				
HSP90B1	7184	broad.mit.edu	37	12	104327925	104327925	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:104327925C>T	ENST00000299767.5	+	5	785	c.603C>T	c.(601-603)tcC>tcT	p.S201S		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	201					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GTTTCTATTCCGCCTTCCTTG	0.423																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(601-603)tcC>tcT		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						118.0	114.0	115.0					12																	104327925		2203	4300	6503	SO:0001819	synonymous_variant	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104327925C>T	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.603C>T	12.37:g.104327925C>T							p.S201S	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			5	785	+			201					Q96A97	Silent	SNP	ENST00000299767.5	37	c.603C>T	CCDS9094.1																																																																																				0.423	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		18	100	0	0	0	1	0	18	100				
CASR	846	broad.mit.edu	37	3	122003904	122003904	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:122003904C>G	ENST00000490131.1	+	7	3475	c.3103C>G	c.(3103-3105)Cct>Gct	p.P1035A	CASR_ENST00000498619.1_Missense_Mutation_p.P1045A|CASR_ENST00000296154.5_Missense_Mutation_p.P1035A	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	1035					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTGCAAGGACCTGTGGGTGG	0.577																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(3133-3135)Cct>Gct		calcium-sensing receptor	Cinacalcet(DB01012)						66.0	69.0	68.0					3																	122003904		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003904C>G	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.3103C>G	3.37:g.122003904C>G	ENSP00000418685:p.Pro1035Ala					CASR_ENST00000296154.5_Missense_Mutation_p.P1035A|CASR_ENST00000490131.1_Missense_Mutation_p.P1035A	p.P1045A	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3571	+			1035					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.3133C>G	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	0.124	-1.121331	0.01785	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.88277	-2.36;-2.36;-2.36	5.27	1.88	0.25563	.	0.471739	0.21820	N	0.068637	T	0.76842	0.4044	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.67444	-0.5669	10	0.62326	D	0.03	.	6.9152	0.24355	0.0:0.5489:0.0:0.4511	.	1045;1035	E7ENE0;P41180	.;CASR_HUMAN	A	1035;1045;1035	ENSP00000418685:P1035A;ENSP00000420194:P1045A;ENSP00000296154:P1035A	ENSP00000296154:P1035A	P	+	1	0	CASR	123486594	0.826000	0.29277	0.185000	0.23176	0.025000	0.11179	0.237000	0.17985	0.639000	0.30564	0.561000	0.74099	CCT		0.577	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		28	85	0	0	0	1	0	28	85				
POLRMT	5442	broad.mit.edu	37	19	619641	619641	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:619641T>C	ENST00000588649.2	-	13	3095	c.3011A>G	c.(3010-3012)tAt>tGt	p.Y1004C	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1004	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCCGCCATAGCGCGTGAC	0.647																																						ENST00000588649.2																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(3010-3012)tAt>tGt		polymerase (RNA) mitochondrial (DNA directed)							73.0	77.0	75.0					19																	619641		2203	4298	6501	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:619641T>C		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.3011A>G	19.37:g.619641T>C	ENSP00000465759:p.Tyr1004Cys						p.Y1004C	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	3095	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	1004			Mediates interaction with TEFM.		O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.3011A>G	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	12.92	2.082802	0.36758	.	.	ENSG00000099821	ENST00000215591	T	0.47869	0.83	3.91	2.88	0.33553	.	0.000000	0.85682	D	0.000000	T	0.69958	0.3169	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.71735	-0.4503	10	0.72032	D	0.01	-30.3943	8.9394	0.35720	0.1663:0.0:0.0:0.8337	.	1004	O00411	RPOM_HUMAN	C	1004	ENSP00000215591:Y1004C	ENSP00000215591:Y1004C	Y	-	2	0	POLRMT	570641	1.000000	0.71417	0.890000	0.34922	0.054000	0.15201	5.681000	0.68175	0.555000	0.29079	-0.728000	0.03583	TAT		0.647	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		66	163	0	0	0	1	0	66	163				
TRPV5	56302	broad.mit.edu	37	7	142627452	142627452	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:142627452C>T	ENST00000265310.1	-	2	566	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	TRPV5_ENST00000442623.1_Missense_Mutation_p.R73Q	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	73					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACCTCTTTGTCGAACGTCACA	0.512																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(217-219)cGa>cAa		transient receptor potential cation channel, subfamily V, member 5							148.0	123.0	132.0					7																	142627452		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142627452C>T	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.218G>A	7.37:g.142627452C>T	ENSP00000265310:p.Arg73Gln					TRPV5_ENST00000442623.1_Missense_Mutation_p.R73Q	p.R73Q	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			2	566	-	Melanoma(164;0.059)		73					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.218G>A	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542970	0.27563	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.64085	0.64;0.64;-0.08	4.44	-3.2	0.05156	Ankyrin repeat-containing domain (3);	0.521516	0.20929	N	0.083131	T	0.36771	0.0979	N	0.19112	0.55	0.09310	N	1	B;B	0.22003	0.063;0.06	B;B	0.18561	0.022;0.019	T	0.21552	-1.0242	10	0.18276	T	0.48	-17.563	8.2906	0.31954	0.1303:0.1753:0.0:0.6944	.	73;73	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	Q	73;67;73	ENSP00000265310:R73Q;ENSP00000406361:R67Q;ENSP00000406572:R73Q	ENSP00000265310:R73Q	R	-	2	0	TRPV5	142337574	0.000000	0.05858	0.001000	0.08648	0.889000	0.51656	-0.626000	0.05527	-0.582000	0.05929	0.467000	0.42956	CGA		0.512	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		29	94	0	0	0	1	0	29	94				
OPRK1	4986	broad.mit.edu	37	8	54147381	54147381	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:54147381C>T	ENST00000265572.3	-	3	845	c.548G>A	c.(547-549)tGg>tAg	p.W183*	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Nonsense_Mutation_p.W183*|OPRK1_ENST00000524278.1_Nonsense_Mutation_p.W94*	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	183					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CGACAGCAGCCAGATGCAGAT	0.493																																						ENST00000265572.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.(547-549)tGg>tAg		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						113.0	102.0	106.0					8																	54147381		2203	4300	6503	SO:0001587	stop_gained	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54147381C>T		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.548G>A	8.37:g.54147381C>T	ENSP00000265572:p.Trp183*					OPRK1_ENST00000520287.1_Nonsense_Mutation_p.W183*|OPRK1_ENST00000524278.1_Nonsense_Mutation_p.W94*|RP11-162D9.3_ENST00000524425.1_RNA	p.W183*	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN			3	845	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	183					E5RHC9|Q499G4	Nonsense_Mutation	SNP	ENST00000265572.3	37	c.548G>A	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	39	7.308815	0.98203	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0961	0.97843	0.0:1.0:0.0:0.0	.	.	.	.	X	183;94;183;169	.	ENSP00000265572:W183X	W	-	2	0	OPRK1	54309934	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.698000	0.84413	2.813000	0.96785	0.655000	0.94253	TGG		0.493	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			26	127	0	0	0	1	0	26	127				
KLHL22	84861	broad.mit.edu	37	22	20796591	20796591	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:20796591G>T	ENST00000328879.4	-	7	1830	c.1674C>A	c.(1672-1674)agC>agA	p.S558R	KLHL22_ENST00000440659.2_Missense_Mutation_p.S415R	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	558					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGCCTGTGCGGCTGCCGCGGT	0.612																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1672-1674)agC>agA		kelch-like family member 22							61.0	59.0	60.0					22																	20796591		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20796591G>T		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.1674C>A	22.37:g.20796591G>T	ENSP00000331682:p.Ser558Arg					KLHL22_ENST00000440659.2_Missense_Mutation_p.S415R	p.S558R	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		7	1830	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	558					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.1674C>A	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	G	9.297	1.052228	0.19827	.	.	ENSG00000099910	ENST00000328879;ENST00000440659	T;T	0.77620	-1.11;-1.11	5.67	4.66	0.58398	Kelch-type beta propeller (1);	0.359411	0.34411	N	0.003981	T	0.61286	0.2335	N	0.17594	0.5	0.39376	D	0.966178	B	0.14012	0.009	B	0.12837	0.008	T	0.58624	-0.7604	10	0.44086	T	0.13	.	8.5529	0.33462	0.1726:0.0:0.8274:0.0	.	558	Q53GT1	KLH22_HUMAN	R	558;415	ENSP00000331682:S558R;ENSP00000405521:S415R	ENSP00000331682:S558R	S	-	3	2	KLHL22	19126591	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	1.156000	0.31712	1.413000	0.46997	0.563000	0.77884	AGC		0.612	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		18	54	1	0	0.00121646	1	0.00122927	18	54				
MYCN	4613	broad.mit.edu	37	2	16082735	16082735	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:16082735C>T	ENST00000281043.3	+	2	846	c.549C>T	c.(547-549)gcC>gcT	p.A183A	MYCNOS_ENST00000439180.1_RNA|MYCNOS_ENST00000420452.1_RNA|MYCNOS_ENST00000453400.1_RNA|MYCNOS_ENST00000419083.1_RNA|MYCNOS_ENST00000448719.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	183					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CCCACCCGGCCGCCGAGTGCG	0.831			A		neuroblastoma																																	ENST00000281043.3				Dom	yes		2	2p24.1	4613	A	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""			O			neuroblastoma		0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(547-549)gcC>gcT		v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog							3.0	3.0	3.0					2																	16082735		1061	2581	3642	SO:0001819	synonymous_variant	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16082735C>T	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.549C>T	2.37:g.16082735C>T							p.A183A	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		2	846	+	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		183					Q53XS5|Q6LDT9	Silent	SNP	ENST00000281043.3	37	c.549C>T	CCDS1687.1																																																																																				0.831	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		4	3	0	0	0	1	0	4	3				
LDLRAD4	753	broad.mit.edu	37	18	13645592	13645592	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:13645592A>G	ENST00000359446.5	+	6	1325	c.857A>G	c.(856-858)aAc>aGc	p.N286S	LDLRAD4_ENST00000361205.4_Missense_Mutation_p.N286S|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.N268S|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.N231S|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.N249S|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.N209S|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.N188S	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	286					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										TTTCAGCAGAACAATGCAGAG	0.547																																						ENST00000361205.4																			0											c.(856-858)aAc>aGc		low density lipoprotein receptor class A domain containing 4							47.0	51.0	50.0					18																	13645592		2203	4300	6503	SO:0001583	missense	753							g.chr18:13645592A>G	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.857A>G	18.37:g.13645592A>G	ENSP00000352420:p.Asn286Ser					LDLRAD4_ENST00000592991.1_Missense_Mutation_p.N188S|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.N249S|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.N231S|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.N209S|LDLRAD4_ENST00000359446.5_Missense_Mutation_p.N286S|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.N268S	p.N286S	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1					7	1525	+								B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.857A>G	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	A	4.550	0.102068	0.08731	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.25085	1.85;1.82	4.51	1.93	0.25924	.	0.237508	0.49305	N	0.000146	T	0.19327	0.0464	L	0.45581	1.43	0.46749	D	0.999187	B;B;B;B;B;B	0.15719	0.001;0.003;0.001;0.014;0.001;0.002	B;B;B;B;B;B	0.15870	0.004;0.009;0.003;0.014;0.002;0.003	T	0.05632	-1.0873	10	0.36615	T	0.2	-0.0148	6.3721	0.21487	0.754:0.1555:0.0905:0.0	.	210;228;231;249;268;286	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	S	286;268;249;231;228;210	ENSP00000354753:N286S;ENSP00000382741:N268S	ENSP00000352420:N249S	N	+	2	0	C18orf1	13635592	1.000000	0.71417	0.037000	0.18230	0.256000	0.26092	3.959000	0.56744	0.103000	0.17682	-0.408000	0.06270	AAC		0.547	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		24	57	0	0	0	1	0	24	57				
FCGBP	8857	broad.mit.edu	37	19	40366395	40366395	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:40366395G>A	ENST00000221347.6	-	30	13846	c.13839C>T	c.(13837-13839)tgC>tgT	p.C4613C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4613	VWFD 11. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGTAGTTCCCGCATAAGCCAC	0.677																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(13837-13839)tgC>tgT		Fc fragment of IgG binding protein							49.0	55.0	53.0					19																	40366395		2203	4299	6502	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40366395G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13839C>T	19.37:g.40366395G>A							p.C4613C	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		30	13846	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4613			VWFD 11.		O95784	Silent	SNP	ENST00000221347.6	37	c.13839C>T	CCDS12546.1																																																																																				0.677	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		41	114	0	0	0	1	0	41	114				
KIAA0930	23313	broad.mit.edu	37	22	45601193	45601193	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:45601193A>G	ENST00000336156.5	-	5	486	c.421T>C	c.(421-423)Ttc>Ctc	p.F141L	KIAA0930_ENST00000474515.1_5'Flank|KIAA0930_ENST00000251993.7_Missense_Mutation_p.F146L|KIAA0930_ENST00000391627.2_Missense_Mutation_p.F107L|KIAA0930_ENST00000443310.3_Missense_Mutation_p.F123L	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	141										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						GGGGACGCGAACACTTGCTGG	0.582																																						ENST00000336156.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						c.(421-423)Ttc>Ctc		KIAA0930							123.0	99.0	107.0					22																	45601193		2203	4300	6503	SO:0001583	missense	23313						protein binding	g.chr22:45601193A>G	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.421T>C	22.37:g.45601193A>G	ENSP00000336720:p.Phe141Leu					KIAA0930_ENST00000251993.7_Missense_Mutation_p.F146L|KIAA0930_ENST00000391627.2_Missense_Mutation_p.F107L|KIAA0930_ENST00000443310.3_Missense_Mutation_p.F123L	p.F141L	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN			5	486	-			141					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	c.421T>C	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.291880	0.80914	.	.	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310;ENST00000414854;ENST00000424508	.	.	.	4.39	4.39	0.52855	.	0.096695	0.64402	D	0.000001	T	0.74951	0.3784	M	0.61703	1.905	0.80722	D	1	D;P;P;D	0.53885	0.963;0.826;0.952;0.959	D;B;P;P	0.67231	0.95;0.371;0.523;0.696	T	0.78086	-0.2341	9	0.72032	D	0.01	-19.0502	13.9248	0.63955	1.0:0.0:0.0:0.0	.	123;141;146;212	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	L	141;26;146;107;123;107;123	.	ENSP00000251993:F146L	F	-	1	0	KIAA0930	43979857	1.000000	0.71417	0.986000	0.45419	0.391000	0.30476	9.027000	0.93706	1.760000	0.52011	0.459000	0.35465	TTC		0.582	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		4	75	0	0	0	1	0	4	75				
RERG	85004	broad.mit.edu	37	12	15262345	15262345	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:15262345T>C	ENST00000256953.2	-	5	635	c.299A>G	c.(298-300)aAc>aGc	p.N100S	RERG_ENST00000546331.1_Missense_Mutation_p.N81S|RERG-IT1_ENST00000539734.1_RNA|RERG_ENST00000538313.1_Missense_Mutation_p.N100S|RERG_ENST00000536465.1_Missense_Mutation_p.N100S	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	100					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						ATCTAGGATGTTCTTAAGTGG	0.493																																						ENST00000256953.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(298-300)aAc>aGc		RAS-like, estrogen-regulated, growth inhibitor							309.0	306.0	307.0					12																	15262345		2203	4300	6503	SO:0001583	missense	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262345T>C	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.299A>G	12.37:g.15262345T>C	ENSP00000256953:p.Asn100Ser					RERG_ENST00000546331.1_Missense_Mutation_p.N81S|RERG_ENST00000536465.1_Missense_Mutation_p.N100S|RERG_ENST00000538313.1_Missense_Mutation_p.N100S	p.N100S	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN			5	635	-			100					B2R9R0|B4DI02	Missense_Mutation	SNP	ENST00000256953.2	37	c.299A>G	CCDS8673.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.498545	0.44455	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331;ENST00000545567	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.12	5.23	5.23	0.72850	Small GTP-binding protein domain (1);	0.086147	0.85682	D	0.000000	T	0.56016	0.1957	N	0.05031	-0.125	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.56032	-0.8046	10	0.62326	D	0.03	.	14.2414	0.65959	0.0:0.0:0.0:1.0	.	81;100	B4DI02;Q96A58	.;RERG_HUMAN	S	100;100;100;81;113	ENSP00000256953:N100S;ENSP00000441505:N100S;ENSP00000438280:N100S;ENSP00000444485:N81S;ENSP00000439532:N113S	ENSP00000256953:N100S	N	-	2	0	RERG	15153612	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.519000	0.45546	2.107000	0.64212	0.533000	0.62120	AAC		0.493	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		113	454	0	0	0	1	0	113	454				
NCK2	8440	broad.mit.edu	37	2	106497991	106497991	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:106497991G>A	ENST00000233154.4	+	4	876	c.434G>A	c.(433-435)aGc>aAc	p.S145N	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.S145N|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	145	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						GAGAAGTGCAGCGACGGTTGG	0.642																																						ENST00000233154.4																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(433-435)aGc>aAc		NCK adaptor protein 2							83.0	71.0	75.0					2																	106497991		2203	4300	6503	SO:0001583	missense	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106497991G>A	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.434G>A	2.37:g.106497991G>A	ENSP00000233154:p.Ser145Asn					NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.S145N|NCK2_ENST00000451463.2_Intron	p.S145N	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN			4	876	+			145			SH3 2.		D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	ENST00000233154.4	37	c.434G>A	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079299	0.76528	.	.	ENSG00000071051	ENST00000233154;ENST00000393349	T;T	0.28255	1.62;1.62	5.41	5.41	0.78517	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.28797	0.0714	N	0.16656	0.425	0.80722	D	1	P	0.40282	0.711	P	0.46885	0.53	T	0.02313	-1.1178	10	0.14252	T	0.57	.	19.5465	0.95299	0.0:0.0:1.0:0.0	.	145	O43639	NCK2_HUMAN	N	145	ENSP00000233154:S145N;ENSP00000377018:S145N	ENSP00000233154:S145N	S	+	2	0	NCK2	105864423	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.405000	0.97313	2.700000	0.92200	0.462000	0.41574	AGC		0.642	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		24	58	0	0	0	1	0	24	58				
HDLBP	3069	broad.mit.edu	37	2	242174626	242174626	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:242174626G>A	ENST00000391975.1	-	23	3281	c.3054C>T	c.(3052-3054)atC>atT	p.I1018I	HDLBP_ENST00000391976.2_Silent_p.I1018I|HDLBP_ENST00000427183.2_Silent_p.I985I|HDLBP_ENST00000310931.4_Silent_p.I1018I	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1018	KH 12. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCGTGATGGCGATGATGTCAG	0.597																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(3052-3054)atC>atT		high density lipoprotein binding protein							82.0	77.0	78.0					2																	242174626		2203	4300	6503	SO:0001819	synonymous_variant	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242174626G>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3054C>T	2.37:g.242174626G>A						HDLBP_ENST00000310931.4_Silent_p.I1018I|HDLBP_ENST00000391976.2_Silent_p.I1018I|HDLBP_ENST00000427183.2_Silent_p.I985I	p.I1018I	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	23	3281	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1018			KH 12.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	c.3054C>T	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.448013	0.26074	.	.	ENSG00000115677	ENST00000373292	.	.	.	5.79	-7.55	0.01327	.	.	.	.	.	T	0.51346	0.1669	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57831	-0.7743	4	.	.	.	-17.8727	11.1886	0.48671	0.4547:0.081:0.4643:0.0	.	.	.	.	C	827	.	.	R	-	1	0	HDLBP	241823299	0.987000	0.35691	0.018000	0.16275	0.935000	0.57460	0.149000	0.16243	-1.480000	0.01865	0.557000	0.71058	CGC		0.597	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		4	133	0	0	0	1	0	4	133				
NLRP9	338321	broad.mit.edu	37	19	56244391	56244391	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:56244391G>A	ENST00000332836.2	-	2	833	c.806C>T	c.(805-807)tCc>tTc	p.S269F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	269	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAGGAGAGAGGATTCTGGAAG	0.408																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(805-807)tCc>tTc		NLR family, pyrin domain containing 9							63.0	62.0	62.0					19																	56244391		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56244391G>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.806C>T	19.37:g.56244391G>A	ENSP00000331857:p.Ser269Phe						p.S269F	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	833	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	269			NACHT.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.806C>T	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	5.393	0.257775	0.10239	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.63580	-0.05	2.46	-3.0	0.05480	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.55924	0.1951	L	0.43646	1.37	0.09310	N	1	B	0.21905	0.062	B	0.32149	0.141	T	0.55042	-0.8202	9	0.48119	T	0.1	.	14.2473	0.65997	0.0:0.6743:0.3257:0.0	.	269	Q7RTR0	NALP9_HUMAN	F	269	ENSP00000331857:S269F	ENSP00000331857:S269F	S	-	2	0	NLRP9	60936203	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.014000	0.13333	-0.485000	0.06754	-0.889000	0.02933	TCC		0.408	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		11	69	0	0	0	1	0	11	69				
NAT8	9027	broad.mit.edu	37	2	73868455	73868455	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:73868455A>G	ENST00000272425.3	-	2	450	c.301T>C	c.(301-303)Tac>Cac	p.Y101H		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TCACTCAGGTAGGATTTGGTA	0.537																																						ENST00000272425.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(301-303)Tac>Cac		N-acetyltransferase 8 (GCN5-related, putative)							126.0	119.0	122.0					2																	73868455		2203	4300	6503	SO:0001583	missense	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868455A>G	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.301T>C	2.37:g.73868455A>G	ENSP00000272425:p.Tyr101His						p.Y101H	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN			2	450	-			101			N-acetyltransferase.			Missense_Mutation	SNP	ENST00000272425.3	37	c.301T>C	CCDS1926.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.108127	0.77096	.	.	ENSG00000144035	ENST00000272425	T	0.30714	1.52	3.86	3.86	0.44501	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.57784	0.2077	M	0.86420	2.815	0.44061	D	0.996801	D	0.89917	1.0	D	0.80764	0.994	T	0.65384	-0.6181	10	0.87932	D	0	-39.9926	11.3146	0.49383	1.0:0.0:0.0:0.0	.	101	Q9UHE5	NAT8_HUMAN	H	101	ENSP00000272425:Y101H	ENSP00000272425:Y101H	Y	-	1	0	NAT8	73721963	1.000000	0.71417	0.423000	0.26634	0.335000	0.28730	5.761000	0.68801	1.715000	0.51383	0.524000	0.50904	TAC		0.537	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		36	162	0	0	0	1	0	36	162				
PAK1	5058	broad.mit.edu	37	11	77048409	77048409	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:77048409A>G	ENST00000356341.3	-	12	1707	c.1176T>C	c.(1174-1176)agT>agC	p.S392S	PAK1_ENST00000528203.1_Silent_p.S294S|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_Silent_p.S392S|PAK1_ENST00000530617.1_Silent_p.S392S	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	392	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GAATATTGTCACTCTTGATGT	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(1174-1176)agT>agC		p21 protein (Cdc42/Rac)-activated kinase 1							99.0	80.0	86.0					11																	77048409		2200	4292	6492	SO:0001819	synonymous_variant	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77048409A>G	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.1176T>C	11.37:g.77048409A>G						PAK1_ENST00000528203.1_Silent_p.S294S|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_Silent_p.S392S|PAK1_ENST00000278568.4_Silent_p.S392S	p.S392S	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			12	1707	-	all_cancers(14;1.75e-18)		392			Protein kinase.		O75561|Q13567|Q32M53|Q32M54|Q86W79	Silent	SNP	ENST00000356341.3	37	c.1176T>C	CCDS8250.1	.	.	.	.	.	.	.	.	.	.	A	10.03	1.239201	0.22711	.	.	ENSG00000149269	ENST00000533285	.	.	.	5.55	0.144	0.14824	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0508	0.47889	0.6526:0.0:0.3474:0.0	.	.	.	.	R	114	.	.	X	-	1	0	PAK1	76726057	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.855000	0.27805	0.080000	0.16959	-0.410000	0.06199	TGA		0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		7	22	0	0	0	1	0	7	22				
LNX2	222484	broad.mit.edu	37	13	28127463	28127463	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:28127463C>G	ENST00000316334.3	-	8	1789	c.1660G>C	c.(1660-1662)Gag>Cag	p.E554Q		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	554	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		ATCTGGACCTCAAGTGCTTTA	0.502																																						ENST00000316334.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1660-1662)Gag>Cag		ligand of numb-protein X 2							101.0	93.0	96.0					13																	28127463		2203	4300	6503	SO:0001583	missense	222484						zinc ion binding	g.chr13:28127463C>G	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.1660G>C	13.37:g.28127463C>G	ENSP00000325929:p.Glu554Gln						p.E554Q	NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	8	1789	-		Lung SC(185;0.0156)	554			PDZ 3.		Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	c.1660G>C	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159678	0.78226	.	.	ENSG00000139517	ENST00000316334	T	0.05855	3.38	6.1	6.1	0.99115	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.11623	0.0283	L	0.55103	1.725	0.80722	D	1	B	0.33904	0.431	B	0.37387	0.248	T	0.11299	-1.0593	10	0.25106	T	0.35	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	554	Q8N448	LNX2_HUMAN	Q	554	ENSP00000325929:E554Q	ENSP00000325929:E554Q	E	-	1	0	LNX2	27025463	1.000000	0.71417	0.973000	0.42090	0.864000	0.49448	7.487000	0.81328	2.902000	0.99343	0.650000	0.86243	GAG		0.502	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			35	79	0	0	0	1	0	35	79				
HERC2	8924	broad.mit.edu	37	15	28369194	28369194	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:28369194A>T	ENST00000261609.7	-	85	13285	c.13177T>A	c.(13177-13179)Tcc>Acc	p.S4393T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTTCCCTGGGATATCAGAATT	0.498											OREG0022996	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(13177-13179)Tcc>Acc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							75.0	75.0	75.0					15																	28369194		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28369194A>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.13177T>A	15.37:g.28369194A>T	ENSP00000261609:p.Ser4393Thr		OREG0022996	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	801		p.S4393T	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	85	13285	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4393						Missense_Mutation	SNP	ENST00000261609.7	37	c.13177T>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.177144	0.78564	.	.	ENSG00000128731	ENST00000261609	T	0.38077	1.16	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.30008	0.0751	L	0.32530	0.975	0.80722	D	1	D	0.60575	0.988	P	0.46510	0.519	T	0.09818	-1.0657	10	0.02654	T	1	.	15.696	0.77499	1.0:0.0:0.0:0.0	.	4393	O95714	HERC2_HUMAN	T	4393	ENSP00000261609:S4393T	ENSP00000261609:S4393T	S	-	1	0	HERC2	26042789	1.000000	0.71417	0.988000	0.46212	0.949000	0.60115	9.306000	0.96204	2.104000	0.64026	0.533000	0.62120	TCC		0.498	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		9	67	0	0	0	1	0	9	67				
SCAF11	9169	broad.mit.edu	37	12	46316747	46316747	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:46316747G>A	ENST00000369367.3	-	13	4330	c.4097C>T	c.(4096-4098)gCc>gTc	p.A1366V	SCAF11_ENST00000419565.2_Missense_Mutation_p.A1366V|SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000549162.1_Missense_Mutation_p.A1174V|SCAF11_ENST00000465950.1_Missense_Mutation_p.A1051V	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1366					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ATCTGCGCTGGCTTCCACTGC	0.408																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(3151-3153)gCc>gTc		SR-related CTD-associated factor 11							201.0	193.0	196.0					12																	46316747		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46316747G>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.4097C>T	12.37:g.46316747G>A	ENSP00000358374:p.Ala1366Val					SCAF11_ENST00000369367.3_Missense_Mutation_p.A1366V|SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000549162.1_Missense_Mutation_p.A1174V|SCAF11_ENST00000419565.2_Missense_Mutation_p.A1366V	p.A1051V			Q99590	SCAFB_HUMAN			3	4361	-			1366					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.3152C>T	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819730	0.90873	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.63417	-0.04;2.05;-0.04;2.05	6.07	6.07	0.98685	.	0.000000	0.40908	D	0.000992	T	0.77665	0.4164	L	0.53249	1.67	0.48452	D	0.999651	D	0.89917	1.0	D	0.87578	0.998	T	0.75470	-0.3306	10	0.52906	T	0.07	-5.7949	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1366	Q99590	SCAFB_HUMAN	V	1051;1366;1174;1366	ENSP00000449812:A1051V;ENSP00000358374:A1366V;ENSP00000448864:A1174V;ENSP00000413036:A1366V	ENSP00000358374:A1366V	A	-	2	0	SCAF11	44603014	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.778000	0.75043	2.885000	0.99019	0.655000	0.94253	GCC		0.408	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		25	208	0	0	0	1	0	25	208				
HIRA	7290	broad.mit.edu	37	22	19373150	19373150	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:19373150T>C	ENST00000263208.5	-	12	1479	c.1223A>G	c.(1222-1224)cAg>cGg	p.Q408R	HIRA_ENST00000546308.1_Missense_Mutation_p.Q364R|HIRA_ENST00000541063.1_Missense_Mutation_p.Q364R|HIRA_ENST00000340170.4_Missense_Mutation_p.Q408R	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	408	Poly-Gln.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CTGCTGCTGCTGCCTTCGCTG	0.587																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(1222-1224)cAg>cGg		histone cell cycle regulator							83.0	71.0	75.0					22																	19373150		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19373150T>C	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1223A>G	22.37:g.19373150T>C	ENSP00000263208:p.Gln408Arg					HIRA_ENST00000340170.4_Missense_Mutation_p.Q408R|HIRA_ENST00000546308.1_Missense_Mutation_p.Q364R|HIRA_ENST00000541063.1_Missense_Mutation_p.Q364R	p.Q408R	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			12	1479	-	Colorectal(54;0.0993)		408			Poly-Gln.		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.1223A>G	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930055	0.34096	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	T;T;T;T	0.71579	-0.36;-0.58;-0.42;-0.37	5.65	5.65	0.86999	.	0.058957	0.64402	D	0.000002	T	0.52008	0.1708	N	0.11201	0.11	0.80722	D	1	B;B;B	0.11235	0.001;0.004;0.001	B;B;B	0.11329	0.002;0.006;0.001	T	0.49331	-0.8951	10	0.15066	T	0.55	-16.5706	16.0399	0.80667	0.0:0.0:0.0:1.0	.	364;408;408	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	R	408;408;364;364	ENSP00000345350:Q408R;ENSP00000263208:Q408R;ENSP00000446073:Q364R;ENSP00000441870:Q364R	ENSP00000263208:Q408R	Q	-	2	0	HIRA	17753150	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.248000	0.65421	2.371000	0.80710	0.533000	0.62120	CAG		0.587	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		17	48	0	0	0	1	0	17	48				
POP1	10940	broad.mit.edu	37	8	99158845	99158845	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:99158845T>C	ENST00000401707.2	+	12	1725	c.1644T>C	c.(1642-1644)tgT>tgC	p.C548C	POP1_ENST00000349693.3_Silent_p.C548C	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	548					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTGTGGAATGTACGCATAGCT	0.398																																						ENST00000401707.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1642-1644)tgT>tgC		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)							200.0	188.0	192.0					8																	99158845		2203	4300	6503	SO:0001819	synonymous_variant	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99158845T>C	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.1644T>C	8.37:g.99158845T>C						POP1_ENST00000349693.3_Silent_p.C548C	p.C548C	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		12	1725	+	Breast(36;1.78e-06)		548					A8K5W9|Q15037	Silent	SNP	ENST00000401707.2	37	c.1644T>C	CCDS6277.1																																																																																				0.398	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		59	171	0	0	0	1	0	59	171				
TNXB	7148	broad.mit.edu	37	6	32029986	32029986	+	Silent	SNP	G	G	A	rs368613736		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:32029986G>A	ENST00000375244.3	-	20	7317	c.7116C>T	c.(7114-7116)taC>taT	p.Y2372Y	TNXB_ENST00000375247.2_Silent_p.Y2372Y			P22105	TENX_HUMAN	tenascin XB	2434	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGTGGAAGCCGTACAGGTTCA	0.642													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18703	0.0		0.0	False		,,,				2504	0.0					ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(7114-7116)taC>taT		tenascin XB		G		1,2615		0,1,1307	39.0	45.0	43.0		7116	-9.0	0.7	6		43	0,5130		0,0,2565	no	coding-synonymous	TNXB	NM_019105.6		0,1,3872	AA,AG,GG		0.0,0.0382,0.0129		2372/4243	32029986	1,7745	1308	2565	3873	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32029986G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7116C>T	6.37:g.32029986G>A						TNXB_ENST00000375247.2_Silent_p.Y2372Y	p.Y2372Y			P22105	TENX_HUMAN			20	7317	-			2434			Fibronectin type-III 16.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.7116C>T																																																																																					0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		13	52	0	0	0	1	0	13	52				
FABP1	2168	broad.mit.edu	37	2	88422623	88422623	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:88422623T>C	ENST00000295834.3	-	4	432	c.334A>G	c.(334-336)Acc>Gcc	p.T112A	FABP1_ENST00000393750.3_3'UTR|FABP1_ENST00000495375.1_5'UTR	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	112					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						AATGTCATGGTCTGAAAGCCA	0.284																																						ENST00000295834.3																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						c.e4-1		fatty acid binding protein 1, liver							80.0	79.0	79.0					2																	88422623		2203	4300	6503	SO:0001630	splice_region_variant	2168				organ morphogenesis			g.chr2:88422623T>C	M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.334-1A>G	2.37:g.88422623T>C						FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000393750.3_3'UTR	p.T112_splice	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN			4	432	-			112						Splice_Site	SNP	ENST00000295834.3	37	c.333_splice	CCDS2001.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.897573	0.72639	.	.	ENSG00000163586	ENST00000295834	T	0.13307	2.6	5.55	5.55	0.83447	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.323751	0.36778	N	0.002415	T	0.26122	0.0637	M	0.71581	2.175	0.80722	D	1	P	0.35982	0.531	P	0.45037	0.467	T	0.01484	-1.1343	10	0.62326	D	0.03	.	13.377	0.60745	0.0:0.0:0.0:1.0	.	112	P07148	FABPL_HUMAN	A	112	ENSP00000295834:T112A	ENSP00000295834:T112A	T	-	1	0	FABP1	88203738	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.893000	0.48633	2.248000	0.74166	0.533000	0.62120	ACC		0.284	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252660.1	NM_001443	Missense_Mutation	20	50	0	0	0	1	0	20	50				
ATP5G3	518	broad.mit.edu	37	2	176043862	176043862	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:176043862A>G	ENST00000284727.4	-	4	3261	c.237T>C	c.(235-237)ggT>ggC	p.G79G	ATP5G3_ENST00000392541.3_Silent_p.G79G|Y_RNA_ENST00000363251.1_RNA|ATP5G3_ENST00000409194.1_Silent_p.G79G	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	79					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			CTGTTGCAGCACCTGCACCAA	0.463																																					GBM(30;387 605 18606 28805 47989)	ENST00000284727.4																			0				large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(235-237)ggT>ggC		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)							106.0	98.0	101.0					2																	176043862		2203	4300	6503	SO:0001819	synonymous_variant	518				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding	g.chr2:176043862A>G	BC106881	CCDS2263.1	2q31.1	2012-10-12	2010-06-11		ENSG00000154518	ENSG00000154518		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	843	protein-coding gene	gene with protein product		602736	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9) isoform 3"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)"""			7698763	Standard	NM_001002258		Approved		uc002ujz.4	P48201	OTTHUMG00000132425	ENST00000284727.4:c.237T>C	2.37:g.176043862A>G						ATP5G3_ENST00000409194.1_Silent_p.G79G|ATP5G3_ENST00000392541.3_Silent_p.G79G	p.G79G	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.147)		4	3261	-			79					B2R4Z0|D3DPF0|Q4ZFX7	Silent	SNP	ENST00000284727.4	37	c.237T>C	CCDS2263.1																																																																																				0.463	ATP5G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255563.1	NM_001689		10	61	0	0	0	1	0	10	61				
MUC17	140453	broad.mit.edu	37	7	100678670	100678670	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100678670A>G	ENST00000306151.4	+	3	4037	c.3973A>G	c.(3973-3975)Acc>Gcc	p.T1325A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1325	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCTGAAGGTACCAGCATGCC	0.463																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3973-3975)Acc>Gcc		mucin 17, cell surface associated							247.0	235.0	239.0					7																	100678670		2203	4298	6501	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678670A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3973A>G	7.37:g.100678670A>G	ENSP00000302716:p.Thr1325Ala						p.T1325A	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4037	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1325			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3973A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	0.927	-0.713895	0.03206	.	.	ENSG00000169876	ENST00000306151	T	0.02258	4.37	0.373	-0.746	0.11095	.	.	.	.	.	T	0.01061	0.0035	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48779	-0.9005	8	0.11182	T	0.66	.	.	.	.	.	1325	Q685J3	MUC17_HUMAN	A	1325	ENSP00000302716:T1325A	ENSP00000302716:T1325A	T	+	1	0	MUC17	100465390	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-1.909000	0.01586	-0.434000	0.07275	0.113000	0.15668	ACC		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		15	669	0	0	0	1	0	15	669				
WAC	51322	broad.mit.edu	37	10	28824585	28824585	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:28824585T>C	ENST00000354911.4	+	3	334	c.173T>C	c.(172-174)aTg>aCg	p.M58T	WAC_ENST00000347934.4_Missense_Mutation_p.M58T|WAC_ENST00000375664.4_Missense_Mutation_p.M13T|WAC-AS1_ENST00000527986.1_RNA|WAC_ENST00000428935.1_Missense_Mutation_p.M13T|WAC_ENST00000532233.1_3'UTR|WAC_ENST00000375646.1_Missense_Mutation_p.M13T	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	58					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CCAAATAAAATGTTGCGGAGA	0.453																																						ENST00000375664.3																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.(37-39)aTg>aCg		WW domain containing adaptor with coiled-coil							105.0	100.0	102.0					10																	28824585		2203	4300	6503	SO:0001583	missense	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28824585T>C	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.173T>C	10.37:g.28824585T>C	ENSP00000346986:p.Met58Thr					WAC_ENST00000375646.1_Missense_Mutation_p.M13T|WAC_ENST00000428935.1_Missense_Mutation_p.M13T|WAC_ENST00000347934.4_Missense_Mutation_p.M58T|WAC_ENST00000354911.4_Missense_Mutation_p.M58T|WAC_ENST00000532233.1_3'UTR	p.M13T			Q9BTA9	WAC_HUMAN			3	647	+			58					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	ENST00000354911.4	37	c.38T>C	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959377	0.74016	.	.	ENSG00000095787	ENST00000375664;ENST00000526722;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000420266;ENST00000424454;ENST00000538000;ENST00000442148;ENST00000448193;ENST00000414108	T;T;T;T;T;T;T	0.53206	1.82;1.85;1.94;1.93;1.32;0.73;0.63	4.81	4.81	0.61882	.	0.039124	0.85682	D	0.000000	T	0.45094	0.1325	L	0.29908	0.895	0.80722	D	1	P;B;B	0.51933	0.949;0.341;0.11	P;B;B	0.50440	0.641;0.116;0.085	T	0.29671	-1.0004	10	0.28530	T	0.3	-10.3477	14.4001	0.67037	0.0:0.0:0.0:1.0	.	13;58;58	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	T	13;13;13;58;58;13;13;13;13;13;13;13	ENSP00000364816:M13T;ENSP00000364797:M13T;ENSP00000311106:M58T;ENSP00000346986:M58T;ENSP00000399706:M13T;ENSP00000404758:M13T;ENSP00000415645:M13T	ENSP00000311106:M58T	M	+	2	0	WAC	28864591	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.526000	0.81920	1.791000	0.52520	0.460000	0.39030	ATG		0.453	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		29	77	0	0	0	1	0	29	77				
RAD23B	5887	broad.mit.edu	37	9	110087223	110087223	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:110087223G>A	ENST00000358015.3	+	9	1405	c.1054G>A	c.(1054-1056)Gct>Act	p.A352T	RAD23B_ENST00000416373.2_Missense_Mutation_p.A280T	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	352					DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATTGCAGAAGCTGGAAGTGG	0.408								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358015.3																			0				breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1054-1056)Gct>Act	Direct reversal of damage;Nucleotide excision repair (NER)	RAD23 homolog B (S. cerevisiae)							93.0	80.0	85.0					9																	110087223		2203	4300	6503	SO:0001583	missense	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110087223G>A		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.1054G>A	9.37:g.110087223G>A	ENSP00000350708:p.Ala352Thr					RAD23B_ENST00000416373.2_Missense_Mutation_p.A280T	p.A352T	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN			9	1405	+			352					B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	ENST00000358015.3	37	c.1054G>A	CCDS6769.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565249	0.65651	.	.	ENSG00000119318	ENST00000358015;ENST00000416373	T;T	0.19105	2.18;2.17	5.5	4.59	0.56863	UBA-like (1);	0.149009	0.64402	D	0.000013	T	0.14485	0.0350	N	0.24115	0.695	0.54753	D	0.999988	B;B;B	0.34103	0.437;0.23;0.23	B;B;B	0.30401	0.115;0.082;0.053	T	0.06303	-1.0834	10	0.21014	T	0.42	-10.382	15.8413	0.78848	0.0:0.0:0.8631:0.1369	.	331;352;352	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	T	352;280	ENSP00000350708:A352T;ENSP00000405623:A280T	ENSP00000350708:A352T	A	+	1	0	RAD23B	109127044	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.741000	0.74837	1.412000	0.46977	0.650000	0.86243	GCT		0.408	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874		6	69	0	0	0	1	0	6	69				
FAM69B	138311	broad.mit.edu	37	9	139617613	139617613	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:139617613T>C	ENST00000371692.4	+	5	779	c.683T>C	c.(682-684)cTc>cCc	p.L228P	FAM69B_ENST00000371691.1_Missense_Mutation_p.L141P|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000436596.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	228						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TGTGGGGACCTCTACCTCACC	0.687																																						ENST00000371691.1																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8						c.(421-423)cTc>cCc		family with sequence similarity 69, member B							65.0	64.0	64.0					9																	139617613		2203	4300	6503	SO:0001583	missense	138311					endoplasmic reticulum membrane|integral to membrane		g.chr9:139617613T>C		CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.683T>C	9.37:g.139617613T>C	ENSP00000360757:p.Leu228Pro					SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371692.4_Missense_Mutation_p.L228P	p.L141P			Q5VUD6	FA69B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)	3	1521	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)	228					Q5VUD7|Q8N5N0|Q8WYU5	Missense_Mutation	SNP	ENST00000371692.4	37	c.422T>C	CCDS7004.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.313742	0.81358	.	.	ENSG00000165716	ENST00000371692;ENST00000371691	T;T	0.54479	0.62;0.57	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.73079	0.3541	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77133	-0.2700	10	0.87932	D	0	-31.2691	14.8363	0.70187	0.0:0.0:0.0:1.0	.	228	Q5VUD6	FA69B_HUMAN	P	228;141	ENSP00000360757:L228P;ENSP00000360756:L141P	ENSP00000360756:L141P	L	+	2	0	FAM69B	138737434	1.000000	0.71417	0.977000	0.42913	0.778000	0.44026	5.465000	0.66725	2.107000	0.64212	0.454000	0.30748	CTC		0.687	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055102.1	NM_152421		45	117	0	0	0	1	0	45	117				
PICALM	8301	broad.mit.edu	37	11	85701438	85701438	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:85701438A>G	ENST00000393346.3	-	13	1411	c.1263T>C	c.(1261-1263)ccT>ccC	p.P421P	PICALM_ENST00000532317.1_Intron|PICALM_ENST00000526033.1_Intron|PICALM_ENST00000528398.1_Intron|PICALM_ENST00000356360.5_Silent_p.P421P			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	421					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TAGCAGAGAAAGGATCTGTGC	0.343			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	ENST00000393346.3				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	"""MLLT10, MLL"""		"""TALL, AML, """		0				endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1261-1263)ccT>ccC		phosphatidylinositol binding clathrin assembly protein							88.0	84.0	86.0					11																	85701438		2203	4299	6502	SO:0001819	synonymous_variant	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85701438A>G	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1263T>C	11.37:g.85701438A>G						PICALM_ENST00000528398.1_Intron|PICALM_ENST00000526033.1_Intron|PICALM_ENST00000356360.5_Silent_p.P421P|PICALM_ENST00000532317.1_Intron	p.P421P			Q13492	PICAL_HUMAN			13	1411	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	421					B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Silent	SNP	ENST00000393346.3	37	c.1263T>C	CCDS8272.1	.	.	.	.	.	.	.	.	.	.	A	9.204	1.029209	0.19512	.	.	ENSG00000073921	ENST00000530542	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	T	0.64897	0.2640	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63800	-0.6555	4	.	.	.	-11.4146	12.274	0.54724	0.873:0.0:0.0:0.127	.	.	.	.	L	124	.	.	F	-	1	0	PICALM	85379086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.808000	0.69165	2.326000	0.78906	0.533000	0.62120	TTT		0.343	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		22	54	0	0	0	1	0	22	54				
ARHGAP32	9743	broad.mit.edu	37	11	128839216	128839216	+	Silent	SNP	T	T	C	rs552954899		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:128839216T>C	ENST00000310343.9	-	22	5849	c.5850A>G	c.(5848-5850)cgA>cgG	p.R1950R	ARHGAP32_ENST00000527272.1_Silent_p.R1601R|ARHGAP32_ENST00000392657.3_Silent_p.R1601R|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1950	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TAACCCAGGGTCGCTCCATCT	0.512													T|||	1	0.000199681	0.0	0.0	5008	,	,		20860	0.0		0.0	False		,,,				2504	0.001					ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(5848-5850)cgA>cgG		Rho GTPase activating protein 32							87.0	87.0	87.0					11																	128839216		2201	4297	6498	SO:0001819	synonymous_variant	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839216T>C	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5850A>G	11.37:g.128839216T>C						ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Silent_p.R1601R|ARHGAP32_ENST00000392657.3_Silent_p.R1601R	p.R1950R	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	5849	-			1950			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	c.5850A>G	CCDS44769.1																																																																																				0.512	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		8	151	0	0	0	1	0	8	151				
ZNF75A	7627	broad.mit.edu	37	16	3367268	3367268	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3367268T>C	ENST00000574298.1	+	6	763	c.290T>C	c.(289-291)gTc>gCc	p.V97A	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	97					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(3)|lung(7)|prostate(1)	12						TCAGCAGGCGTCATATCAAAA	0.388																																						ENST00000574298.1																			0				breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						c.(289-291)gTc>gCc		zinc finger protein 75a							67.0	66.0	66.0					16																	3367268		2197	4300	6497	SO:0001583	missense	7627				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3367268T>C	X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.290T>C	16.37:g.3367268T>C	ENSP00000459566:p.Val97Ala					ZNF75A_ENST00000498240.2_3'UTR	p.V97A	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN			6	763	+			97					Q0VDI8|Q92669	Missense_Mutation	SNP	ENST00000574298.1	37	c.290T>C	CCDS10501.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.812965	0.00600	.	.	ENSG00000162086	ENST00000293995	.	.	.	4.57	-1.4	0.08968	.	1.283300	0.05315	N	0.525486	T	0.14570	0.0352	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27400	-1.0075	9	0.02654	T	1	.	9.6548	0.39919	0.0:0.5268:0.0:0.4732	.	97	Q96N20	ZN75A_HUMAN	A	97	.	ENSP00000293995:V97A	V	+	2	0	ZNF75A	3307269	0.012000	0.17670	0.000000	0.03702	0.002000	0.02628	0.832000	0.27490	-0.144000	0.11314	0.455000	0.32223	GTC		0.388	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251506.2	NM_153028		8	110	0	0	0	1	0	8	110				
CLPX	10845	broad.mit.edu	37	15	65449183	65449183	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:65449183T>C	ENST00000300107.3	-	9	1333	c.1145A>G	c.(1144-1146)cAa>cGa	p.Q382R		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	382					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						ACTGCTTACTTGCTGAACGCC	0.393																																						ENST00000300107.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						c.e9+1		caseinolytic mitochondrial matrix peptidase chaperone subunit							147.0	120.0	129.0					15																	65449183		2202	4299	6501	SO:0001630	splice_region_variant	10845				protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding	g.chr15:65449183T>C	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.1146+1A>G	15.37:g.65449183T>C							p.Q382_splice	NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN			9	1333	-			382					A1L428|A8K8F1|B9EGI8|Q9H4D9	Splice_Site	SNP	ENST00000300107.3	37	c.1146_splice	CCDS10202.1	.	.	.	.	.	.	.	.	.	.	T	31	5.103819	0.94245	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.39997	1.05	5.65	5.65	0.86999	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.63581	0.2523	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.81914	0.988;0.995	T	0.67098	-0.5756	10	0.87932	D	0	.	15.8694	0.79101	0.0:0.0:0.0:1.0	.	382;382	Q9H072;O76031	.;CLPX_HUMAN	R	382	ENSP00000300107:Q382R	ENSP00000300107:Q382R	Q	-	2	0	CLPX	63236236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.008000	0.88588	2.143000	0.66587	0.455000	0.32223	CAA		0.393	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2	NM_006660	Missense_Mutation	5	61	0	0	0	1	0	5	61				
HECTD4	283450	broad.mit.edu	37	12	112622580	112622580	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:112622580C>T	ENST00000430131.2	-	60	10069	c.8924G>A	c.(8923-8925)cGc>cAc	p.R2975H	HECTD4_ENST00000550722.1_Missense_Mutation_p.R3251H|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3225H			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2975					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CACCAGCAAGCGGCTGTGGGC	0.697																																						ENST00000550722.1																			0											c.(9751-9753)cGc>cAc		HECT domain containing E3 ubiquitin protein ligase 4							104.0	133.0	123.0					12																	112622580		2131	4229	6360	SO:0001583	missense	283450							g.chr12:112622580C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.8924G>A	12.37:g.112622580C>T	ENSP00000404379:p.Arg2975His					HECTD4_ENST00000430131.2_Missense_Mutation_p.R2975H|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3225H	p.R3251H	NM_001109662.3	NP_001103132.3					61	10147	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.9752G>A		.	.	.	.	.	.	.	.	.	.	C	16.88	3.243411	0.58995	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.56103	0.48;0.49;0.48	5.61	4.72	0.59763	.	.	.	.	.	T	0.41026	0.1141	L	0.29908	0.895	0.54753	D	0.999983	D	0.54047	0.964	B	0.38327	0.271	T	0.47699	-0.9097	9	0.87932	D	0	.	15.8952	0.79329	0.1365:0.8635:0.0:0.0	.	2975	Q9Y4D8	K0614_HUMAN	H	3225;2975;3251	ENSP00000366783:R3225H;ENSP00000404379:R2975H;ENSP00000449784:R3251H	ENSP00000366783:R3225H	R	-	2	0	C12orf51	111106963	1.000000	0.71417	0.997000	0.53966	0.001000	0.01503	7.065000	0.76727	1.355000	0.45865	-0.182000	0.12963	CGC		0.697	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		54	206	0	0	0	1	0	54	206				
BMP5	653	broad.mit.edu	37	6	55739318	55739318	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:55739318A>G	ENST00000370830.3	-	1	1044	c.346T>C	c.(346-348)Tac>Cac	p.Y116H	BMP5_ENST00000446683.2_Missense_Mutation_p.Y116H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	116					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAGGCTGGGTATCCCTTTCTT	0.522																																						ENST00000370830.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(346-348)Tac>Cac		bone morphogenetic protein 5							134.0	115.0	122.0					6																	55739318		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55739318A>G		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.346T>C	6.37:g.55739318A>G	ENSP00000359866:p.Tyr116His					BMP5_ENST00000446683.2_Missense_Mutation_p.Y116H	p.Y116H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		1	1044	-	Lung NSC(77;0.0462)		116					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.346T>C	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	A	6.738	0.504875	0.12822	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.71934	-0.61;-0.25	5.96	-0.414	0.12359	Transforming growth factor-beta, N-terminal (1);	0.272597	0.37261	N	0.002169	T	0.36441	0.0967	L	0.36672	1.1	0.33006	D	0.526878	B;B	0.09022	0.0;0.002	B;B	0.12837	0.008;0.006	T	0.08046	-1.0741	10	0.25751	T	0.34	.	10.8737	0.46899	0.6134:0.0:0.3866:0.0	.	116;116	B4E0Y4;P22003	.;BMP5_HUMAN	H	116	ENSP00000359866:Y116H;ENSP00000391818:Y116H	ENSP00000359866:Y116H	Y	-	1	0	BMP5	55847277	1.000000	0.71417	0.328000	0.25416	0.997000	0.91878	1.413000	0.34725	-0.270000	0.09285	0.528000	0.53228	TAC		0.522	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			9	132	0	0	0	1	0	9	132				
ABHD11	83451	broad.mit.edu	37	7	73151274	73151274	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:73151274T>C	ENST00000222800.3	-	5	869	c.800A>G	c.(799-801)aAc>aGc	p.N267S	ABHD11_ENST00000437775.2_Missense_Mutation_p.N260S|LINC00035_ENST00000427153.1_RNA|ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000468998.1_5'Flank|ABHD11_ENST00000395147.4_Missense_Mutation_p.N210S	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	267						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				GAACTGGGAGTTTCCACCAAG	0.592																																						ENST00000222800.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(799-801)aAc>aGc		abhydrolase domain containing 11							128.0	125.0	126.0					7																	73151274		2203	4300	6503	SO:0001583	missense	83451						hydrolase activity	g.chr7:73151274T>C	AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"""Abhydrolase domain containing"""	16407	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 21"""	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.800A>G	7.37:g.73151274T>C	ENSP00000222800:p.Asn267Ser					ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000395147.4_Missense_Mutation_p.N210S|ABHD11_ENST00000437775.2_Missense_Mutation_p.N260S	p.N267S	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN			5	869	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	267					H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	Missense_Mutation	SNP	ENST00000222800.3	37	c.800A>G	CCDS5558.1	.	.	.	.	.	.	.	.	.	.	T	0.034	-1.317045	0.01331	.	.	ENSG00000106077	ENST00000437775;ENST00000222800;ENST00000395147	T;T;T	0.67171	-0.25;-0.25;-0.25	4.38	3.23	0.37069	Alpha/beta hydrolase fold-1 (1);	0.149847	0.64402	N	0.000016	T	0.60196	0.2250	M	0.65320	2	0.34745	D	0.731211	B;B	0.28760	0.171;0.221	B;B	0.32022	0.124;0.139	T	0.62530	-0.6835	10	0.39692	T	0.17	-18.0691	6.5629	0.22495	0.0:0.1121:0.0:0.8879	.	260;267	Q8NFV4-4;Q8NFV4	.;ABHDB_HUMAN	S	260;267;210	ENSP00000416970:N260S;ENSP00000222800:N267S;ENSP00000378579:N210S	ENSP00000222800:N267S	N	-	2	0	ABHD11	72789210	1.000000	0.71417	0.328000	0.25416	0.030000	0.12068	2.922000	0.48860	0.549000	0.28973	0.459000	0.35465	AAC		0.592	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252306.1			4	257	0	0	0	1	0	4	257				
SLCO1C1	53919	broad.mit.edu	37	12	20854395	20854395	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:20854395T>C	ENST00000266509.2	+	3	639		c.e3+2		SLCO1C1_ENST00000545604.1_Splice_Site|SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000381552.1_Splice_Site|SLCO1C1_ENST00000540354.1_Splice_Site	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1						sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TTGAAATTGGTAGGTATTACA	0.418																																						ENST00000381552.1																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.e3+2		solute carrier organic anion transporter family, member 1C1							118.0	110.0	112.0					12																	20854395		2203	4299	6502	SO:0001630	splice_region_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20854395T>C	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.271+2T>C	12.37:g.20854395T>C						SLCO1C1_ENST00000545604.1_Splice_Site|SLCO1C1_ENST00000540354.1_Splice_Site|SLCO1C1_ENST00000266509.2_Splice_Site|SLCO1C1_ENST00000545102.1_Intron				Q9NYB5	SO1C1_HUMAN			3	639	+	Esophageal squamous(101;0.149)							B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Splice_Site	SNP	ENST00000266509.2	37		CCDS8683.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.254101	0.80135	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3061	0.73992	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLCO1C1	20745662	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.499000	0.81566	2.203000	0.70933	0.533000	0.62120	.		0.418	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435	Intron	30	135	0	0	0	1	0	30	135				
SNHG14	104472715	broad.mit.edu	37	15	25312960	25312960	+	RNA	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:25312960A>G	ENST00000549804.2	+	0	538				SNHG14_ENST00000551077.1_RNA|SNORD116-8_ENST00000384365.1_RNA|SNORD116-7_ENST00000384404.1_RNA|SNORD116-6_ENST00000384711.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		CCCCCATAAAAACATTCCTTG	0.498																																						ENST00000549804.2																			0																				208.0	185.0	192.0					15																	25312960		876	1991	2867			104472715							g.chr15:25312960A>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25312960A>G						SNHG14_ENST00000551077.1_RNA|SNORD116-7_ENST00000384404.1_RNA								0	538	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.498	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			9	148	0	0	0	1	0	9	148				
FGR	2268	broad.mit.edu	37	1	27941035	27941035	+	Silent	SNP	T	T	C	rs143532619		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:27941035T>C	ENST00000374005.3	-	11	1443	c.1155A>G	c.(1153-1155)gcA>gcG	p.A385A	FGR_ENST00000545953.1_Silent_p.A319A|FGR_ENST00000399173.1_Silent_p.A385A|FGR_ENST00000374004.1_Silent_p.A385A	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	385	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGATGTTGGCTGCCCTCAGGT	0.592																																						ENST00000374005.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16						c.(1153-1155)gcA>gcG		feline Gardner-Rasheed sarcoma viral oncogene homolog		T	,,	5,4401	9.9+/-24.2	0,5,2198	97.0	75.0	82.0		1155,1155,1155	-5.7	1.0	1	dbSNP_134	82	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	FGR	NM_001042729.1,NM_001042747.1,NM_005248.2	,,	0,5,6498	CC,CT,TT		0.0,0.1135,0.0384	,,	385/530,385/530,385/530	27941035	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27941035T>C	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.1155A>G	1.37:g.27941035T>C						FGR_ENST00000374004.1_Silent_p.A385A|FGR_ENST00000545953.1_Silent_p.A319A|FGR_ENST00000399173.1_Silent_p.A385A	p.A385A	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	11	1443	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	385			Protein kinase.		D3DPL7|Q9UIQ3	Silent	SNP	ENST00000374005.3	37	c.1155A>G	CCDS305.1																																																																																				0.592	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1	NM_005248		4	19	0	0	0	1	0	4	19				
CELSR2	1952	broad.mit.edu	37	1	109814242	109814242	+	Silent	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:109814242C>A	ENST00000271332.3	+	28	7885	c.7824C>A	c.(7822-7824)tcC>tcA	p.S2608S	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2608					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCTTCCTCTCCTATGTGGTGC	0.612																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(7822-7824)tcC>tcA		cadherin, EGF LAG seven-pass G-type receptor 2							101.0	87.0	92.0					1																	109814242		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109814242C>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.7824C>A	1.37:g.109814242C>A						CELSR2_ENST00000498157.1_3'UTR	p.S2608S	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	28	7885	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2608					Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.7824C>A	CCDS796.1																																																																																				0.612	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		5	155	1	0	0.184627	1	0.184914	5	155				
BID	637	broad.mit.edu	37	22	18226677	18226677	+	Missense_Mutation	SNP	C	C	T	rs372024838		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:18226677C>T	ENST00000399774.3	-	3	284	c.115G>A	c.(115-117)Gca>Aca	p.A39T	BID_ENST00000551952.1_Missense_Mutation_p.A39T|BID_ENST00000399765.1_Intron|BID_ENST00000342111.5_Missense_Mutation_p.A39T|BID_ENST00000399767.1_5'UTR|BID_ENST00000317361.7_Missense_Mutation_p.A85T|BID_ENST00000473439.1_5'UTR	NM_001196.3|NM_001244569.1	NP_001187.1|NP_001231498.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	39					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|brain development (GO:0007420)|establishment of protein localization to membrane (GO:0090150)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|intrinsic apoptotic signaling pathway (GO:0097193)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of protein homooligomerization (GO:0032464)|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 release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of cell proliferation (GO:0042127)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|release of cytochrome c from mitochondria (GO:0001836)|response to estradiol (GO:0032355)|signal transduction in response to DNA damage (GO:0042770)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial membrane (GO:0032592)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	death receptor binding (GO:0005123)			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		TGGCCCAGTGCGTCCAGCTCT	0.587																																						ENST00000317361.7																			0				large_intestine(2)|ovary(1)	3						c.(253-255)Gca>Aca		BH3 interacting domain death agonist		C	,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	84.0	82.0	83.0		,253,115	-8.8	0.0	22		83	0,8600		0,0,4300	no	utr-5,missense,missense	BID	NM_197967.2,NM_197966.2,NM_001196.3	,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,benign,benign	,85/242,39/196	18226677	1,13005	2203	4300	6503	SO:0001583	missense	637				activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding	g.chr22:18226677C>T	AF042083	CCDS13747.1, CCDS13748.1, CCDS13749.1	22q11.2	2014-03-07			ENSG00000015475	ENSG00000015475		"""Endogenous ligands"""	1050	protein-coding gene	gene with protein product		601997				8918887, 9721221	Standard	NM_001244567		Approved		uc002znc.2	P55957	OTTHUMG00000150087	ENST00000399774.3:c.115G>A	22.37:g.18226677C>T	ENSP00000382674:p.Ala39Thr					BID_ENST00000399767.1_5'UTR|BID_ENST00000399765.1_Intron|BID_ENST00000399774.3_Missense_Mutation_p.A39T|BID_ENST00000473439.1_5'UTR|BID_ENST00000342111.5_Missense_Mutation_p.A39T|BID_ENST00000551952.1_Missense_Mutation_p.A39T	p.A85T	NM_197966.2	NP_932070.1	P55957	BID_HUMAN		Lung(27;0.0419)	3	579	-		all_epithelial(15;0.198)	39					Q549M7|Q71T04|Q7Z4M9|Q8IY86	Missense_Mutation	SNP	ENST00000399774.3	37	c.253G>A	CCDS13748.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842330	0.71488	2.27E-4	0.0	ENSG00000015475	ENST00000317361;ENST00000399774;ENST00000342111;ENST00000551952	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.48	-8.75	0.00834	.	2.417310	0.01596	N	0.021820	T	0.16171	0.0389	L	0.53249	1.67	0.09310	N	0.999999	B;B	0.26775	0.028;0.159	B;B	0.18263	0.011;0.021	T	0.17776	-1.0358	10	0.22109	T	0.4	.	0.7305	0.00956	0.2131:0.1902:0.3147:0.282	.	39;85	P55957;P55957-2	BID_HUMAN;.	T	85;39;39;39	ENSP00000318822:A85T;ENSP00000382674:A39T;ENSP00000344594:A39T;ENSP00000449236:A39T	ENSP00000318822:A85T	A	-	1	0	BID	16606677	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.859000	0.04277	-1.163000	0.02793	0.561000	0.74099	GCA		0.587	BID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316178.1	NM_197966		37	94	0	0	0	1	0	37	94				
CTNNA2	1496	broad.mit.edu	37	2	80136806	80136806	+	Silent	SNP	C	C	T	rs370498426		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:80136806C>T	ENST00000402739.4	+	6	944	c.939C>T	c.(937-939)ggC>ggT	p.G313G	CTNNA2_ENST00000496558.1_Silent_p.G313G|CTNNA2_ENST00000540488.1_Silent_p.G313G|CTNNA2_ENST00000466387.1_Silent_p.G313G|CTNNA2_ENST00000541047.1_Silent_p.G313G|CTNNA2_ENST00000361291.4_Silent_p.G347G	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	313					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCATCAGCGGCGCAGCGCTGA	0.637																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(937-939)ggC>ggT		catenin (cadherin-associated protein), alpha 2		C	,	1,4055		0,1,2027	47.0	54.0	52.0		939,939	-11.2	0.0	2		52	0,8396		0,0,4198	no	coding-synonymous,coding-synonymous	CTNNA2	NM_001164883.1,NM_004389.3	,	0,1,6225	TT,TC,CC		0.0,0.0247,0.0080	,	313/861,313/906	80136806	1,12451	2028	4198	6226	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80136806C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.939C>T	2.37:g.80136806C>T						CTNNA2_ENST00000541047.1_Silent_p.G313G|CTNNA2_ENST00000496558.1_Silent_p.G313G|CTNNA2_ENST00000540488.1_Silent_p.G313G|CTNNA2_ENST00000361291.4_Silent_p.G347G|CTNNA2_ENST00000402739.4_Silent_p.G313G	p.G313G			P26232	CTNA2_HUMAN			11	1663	+			313					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.939C>T																																																																																					0.637	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		39	120	0	0	0	1	0	39	120				
DBX1	120237	broad.mit.edu	37	11	20181531	20181531	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:20181531C>T	ENST00000524983.2	-	1	628	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	DBX1_ENST00000227256.3_Missense_Mutation_p.A114T			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	114					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GAGAGGATGGCGTTCACTCCA	0.647																																						ENST00000524983.2																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						c.(340-342)Gcc>Acc		developing brain homeobox 1							36.0	36.0	36.0					11																	20181531		2203	4300	6503	SO:0001583	missense	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20181531C>T			11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.340G>A	11.37:g.20181531C>T	ENSP00000436881:p.Ala114Thr					DBX1_ENST00000227256.3_Missense_Mutation_p.A114T	p.A114T			A6NMT0	DBX1_HUMAN			1	628	-			114						Missense_Mutation	SNP	ENST00000524983.2	37	c.340G>A		.	.	.	.	.	.	.	.	.	.	C	19.87	3.908278	0.72868	.	.	ENSG00000109851	ENST00000524983;ENST00000227256	D;T	0.92545	-3.06;-0.21	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94405	0.7626	10	0.40728	T	0.16	-34.0415	18.6209	0.91321	0.0:1.0:0.0:0.0	.	114	F8W811	.	T	114	ENSP00000436881:A114T;ENSP00000227256:A114T	ENSP00000227256:A114T	A	-	1	0	DBX1	20138107	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.507000	0.81676	2.640000	0.89533	0.486000	0.48141	GCC		0.647	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865		12	25	0	0	0	1	0	12	25				
IFT140	9742	broad.mit.edu	37	16	1574554	1574554	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:1574554T>C	ENST00000426508.2	-	24	3503	c.3140A>G	c.(3139-3141)aAg>aGg	p.K1047R	IFT140_ENST00000361339.5_Splice_Site_p.K241R	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1047					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCGTGGTACCTTGCACAGGCG	0.632																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.e24+1		intraflagellar transport 140 homolog (Chlamydomonas)							27.0	34.0	32.0					16																	1574554		2199	4300	6499	SO:0001630	splice_region_variant	9742							g.chr16:1574554T>C	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3141+1A>G	16.37:g.1574554T>C						IFT140_ENST00000361339.5_Splice_Site_p.K241_splice	p.K1047_splice	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			24	3503	-		Hepatocellular(780;0.219)	1047					A2A2A8|D3DU75|O60332|Q9UG52	Splice_Site	SNP	ENST00000426508.2	37	c.3141_splice	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	T	18.18	3.567194	0.65651	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.53857	0.6;0.6	5.27	5.27	0.74061	.	0.054468	0.64402	D	0.000001	T	0.55337	0.1914	M	0.76170	2.325	0.80722	D	1	B;B	0.29037	0.231;0.095	B;B	0.33454	0.08;0.164	T	0.53528	-0.8426	10	0.22109	T	0.4	.	15.2393	0.73455	0.0:0.0:0.0:1.0	.	1047;734	Q96RY7;B4DR58	IF140_HUMAN;.	R	1047;241;1047	ENSP00000354895:K241R;ENSP00000406012:K1047R	ENSP00000354895:K241R	K	-	2	0	IFT140	1514555	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	7.887000	0.87295	2.015000	0.59207	0.454000	0.30748	AAG		0.632	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714	Missense_Mutation	25	53	0	0	0	1	0	25	53				
NPSR1	387129	broad.mit.edu	37	7	34818098	34818098	+	Missense_Mutation	SNP	T	T	A	rs542257541		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:34818098T>A	ENST00000360581.1	+	3	433	c.305T>A	c.(304-306)aTc>aAc	p.I102N	NPSR1_ENST00000381539.3_Missense_Mutation_p.I102N|NPSR1_ENST00000381553.3_Missense_Mutation_p.I102N|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000359791.1_Missense_Mutation_p.I102N	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	102						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTGGTCAACATCTTGACAGAT	0.403																																						ENST00000360581.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.(304-306)aTc>aAc		neuropeptide S receptor 1	Halothane(DB01159)						115.0	101.0	105.0					7																	34818098		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34818098T>A	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.305T>A	7.37:g.34818098T>A	ENSP00000353788:p.Ile102Asn					NPSR1_ENST00000381553.3_Missense_Mutation_p.I102N|NPSR1_ENST00000381539.3_Missense_Mutation_p.I102N|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000359791.1_Missense_Mutation_p.I102N	p.I102N	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN			3	433	+			102					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.305T>A	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.272950	0.59649	.	.	ENSG00000187258	ENST00000381553;ENST00000360581;ENST00000359791;ENST00000381539	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.82213	0.4988	M	0.75264	2.295	0.50313	D	0.999865	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.74023	0.953;0.974;0.982	D	0.84338	0.0525	10	0.87932	D	0	-31.0127	11.8165	0.52214	0.0:0.0:0.0:1.0	.	102;102;102	Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;NPSR1_HUMAN	N	102	ENSP00000370965:I102N;ENSP00000353788:I102N;ENSP00000352839:I102N;ENSP00000370950:I102N	ENSP00000352839:I102N	I	+	2	0	NPSR1	34784623	0.999000	0.42202	0.998000	0.56505	0.522000	0.34438	4.465000	0.60141	2.098000	0.63641	0.459000	0.35465	ATC		0.403	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		11	43	0	0	0	1	0	11	43				
MCF2L	23263	broad.mit.edu	37	13	113729502	113729502	+	Splice_Site	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:113729502C>T	ENST00000375608.3	+	12	1455	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M	MCF2L_ENST00000423482.2_Splice_Site_p.T434M|MCF2L_ENST00000535094.2_Splice_Site_p.T436M|MCF2L_ENST00000375604.2_Splice_Site_p.T493M|MCF2L_ENST00000375601.3_Splice_Site_p.T440M|MCF2L_ENST00000421756.1_Splice_Site_p.T440M|MCF2L_ENST00000375597.4_Splice_Site_p.T434M|MCF2L_ENST00000442652.2_Splice_Site_p.T466M|MCF2L_ENST00000434480.2_Splice_Site_p.T442M|MCF2L_ENST00000397030.1_Splice_Site_p.T469M			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	466					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CGCCTGGAGACGGTAGGCCGA	0.687																																						ENST00000397030.1																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.e11+1		MCF.2 cell line derived transforming sequence-like							16.0	19.0	18.0					13																	113729502		2200	4297	6497	SO:0001630	splice_region_variant	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113729502C>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1398+1C>T	13.37:g.113729502C>T						MCF2L_ENST00000434480.2_Splice_Site_p.T442_splice|MCF2L_ENST00000375601.3_Splice_Site_p.T440_splice|MCF2L_ENST00000375608.3_Splice_Site_p.T466_splice|MCF2L_ENST00000375604.2_Splice_Site_p.T493_splice|MCF2L_ENST00000442652.2_Splice_Site_p.T466_splice|MCF2L_ENST00000423482.2_Splice_Site_p.T434_splice|MCF2L_ENST00000421756.1_Splice_Site_p.T440_splice|MCF2L_ENST00000375597.4_Splice_Site_p.T434_splice|MCF2L_ENST00000535094.2_Splice_Site_p.T436_splice	p.T469_splice			O15068	MCF2L_HUMAN			11	1443	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	466					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Splice_Site	SNP	ENST00000375608.3	37	c.1407_splice		.	.	.	.	.	.	.	.	.	.	C	12.59	1.982394	0.34942	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	T;T;T;T;T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96;1.96	5.05	1.88	0.25563	.	0.288004	0.36815	N	0.002394	T	0.11239	0.0274	N	0.16478	0.41	0.42671	D	0.993518	B;B;B;B;B;B	0.23377	0.03;0.012;0.03;0.084;0.003;0.017	B;B;B;B;B;B	0.16722	0.01;0.01;0.016;0.007;0.01;0.007	T	0.10520	-1.0626	10	0.54805	T	0.06	.	6.8862	0.24202	0.5873:0.3167:0.0:0.0961	.	434;436;493;398;434;466	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	M	466;466;493;469;436;440;440;442;434;434;277	ENSP00000364758:T466M;ENSP00000401422:T466M;ENSP00000364754:T493M;ENSP00000380225:T469M;ENSP00000440374:T436M;ENSP00000397285:T440M;ENSP00000364751:T440M;ENSP00000407722:T442M;ENSP00000405639:T434M;ENSP00000364747:T434M	ENSP00000364747:T434M	T	+	2	0	MCF2L	112777503	1.000000	0.71417	0.996000	0.52242	0.691000	0.40173	1.997000	0.40786	0.493000	0.27837	0.555000	0.69702	ACG		0.687	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4		Missense_Mutation	4	29	0	0	0	1	0	4	29				
THSD7A	221981	broad.mit.edu	37	7	11581241	11581241	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:11581241G>A	ENST00000423059.4	-	6	1878	c.1627C>T	c.(1627-1629)Cgg>Tgg	p.R543W		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	543	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTAATGCGCCGCTTCCTCAGT	0.448										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(1627-1629)Cgg>Tgg		thrombospondin, type I, domain containing 7A							47.0	48.0	48.0					7																	11581241		1853	4095	5948	SO:0001583	missense	221981					integral to membrane		g.chr7:11581241G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1627C>T	7.37:g.11581241G>A	ENSP00000406482:p.Arg543Trp	HNSCC(18;0.044)					p.R543W	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	6	1878	-			543			TSP type-1 5.			Missense_Mutation	SNP	ENST00000423059.4	37	c.1627C>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008485	0.75046	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.66280	-0.2	5.63	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.87301	0.6143	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92475	0.5988	10	0.72032	D	0.01	.	16.1243	0.81382	0.0:0.0:0.8651:0.1349	.	543	Q9UPZ6	THS7A_HUMAN	W	543	ENSP00000406482:R543W	ENSP00000262042:R543W	R	-	1	2	THSD7A	11547766	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	2.254000	0.43214	1.467000	0.48044	0.655000	0.94253	CGG		0.448	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		9	35	0	0	0	1	0	9	35				
TMEM65	157378	broad.mit.edu	37	8	125334372	125334372	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:125334372A>T	ENST00000297632.6	-	5	1023	c.489T>A	c.(487-489)aaT>aaA	p.N163K		NM_194291.2	NP_919267.2	Q6PI78	TMM65_HUMAN	transmembrane protein 65	163						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGACACAAGATTTCCCAAAG	0.313																																						ENST00000297632.6																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(487-489)aaT>aaA		transmembrane protein 65							85.0	84.0	84.0					8																	125334372		2203	4300	6503	SO:0001583	missense	157378					integral to membrane		g.chr8:125334372A>T	BC032396	CCDS6348.1	8q24.13	2006-11-24			ENSG00000164983	ENSG00000164983			25203	protein-coding gene	gene with protein product						12477932	Standard	NM_194291		Approved		uc010mdl.3	Q6PI78	OTTHUMG00000165021	ENST00000297632.6:c.489T>A	8.37:g.125334372A>T	ENSP00000297632:p.Asn163Lys						p.N163K	NM_194291.2	NP_919267.2	Q6PI78	TMM65_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		5	1023	-	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		163					Q8N5G8|Q8WVK5	Missense_Mutation	SNP	ENST00000297632.6	37	c.489T>A	CCDS6348.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.580209	0.65992	.	.	ENSG00000164983	ENST00000297632	T	0.59224	0.28	5.94	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.78104	0.4231	M	0.91406	3.205	0.54753	D	0.999988	D	0.89917	1.0	D	0.87578	0.998	T	0.78494	-0.2182	10	0.72032	D	0.01	.	9.1546	0.36985	0.7156:0.0:0.2844:0.0	.	163	Q6PI78	TMM65_HUMAN	K	163	ENSP00000297632:N163K	ENSP00000297632:N163K	N	-	3	2	TMEM65	125403553	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.156000	0.42310	0.452000	0.26830	-0.385000	0.06624	AAT		0.313	TMEM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381464.1	NM_194291		30	93	0	0	0	1	0	30	93				
CDCA7L	55536	broad.mit.edu	37	7	21939016	21939016	+	IGR	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:21939016C>T	ENST00000406877.3	-	0	3066				DNAH11_ENST00000328843.6_Missense_Mutation_p.P4378L|DNAH11_ENST00000409508.3_Missense_Mutation_p.P4371L	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like						positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CTTACCCTTCCGGCTGTCGTG	0.537																																						ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(13132-13134)cCg>cTg		dynein, axonemal, heavy chain 11							199.0	196.0	197.0					7																	21939016		1965	4147	6112	SO:0001628	intergenic_variant	8701	Kartagener syndrome			microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21939016C>T		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429		7.37:g.21939016C>T						DNAH11_ENST00000409508.3_Missense_Mutation_p.P4371L	p.P4378L			Q96DT5	DYH11_HUMAN			81	13164	+			4378					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.13133C>T	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629957	0.87660	.	.	ENSG00000105877	ENST00000328843	T	0.10960	2.82	5.48	5.48	0.80851	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.37571	0.1008	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.13335	-1.0513	9	0.72032	D	0.01	.	19.3709	0.94484	0.0:1.0:0.0:0.0	.	4378	Q96DT5	DYH11_HUMAN	L	4378	ENSP00000330671:P4378L	ENSP00000330671:P4378L	P	+	2	0	DNAH11	21905541	1.000000	0.71417	0.671000	0.29857	0.509000	0.34042	7.734000	0.84928	2.576000	0.86940	0.655000	0.94253	CCG		0.537	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		10	226	0	0	0	1	0	10	226				
PCDHB4	56131	broad.mit.edu	37	5	140502502	140502502	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140502502T>C	ENST00000194152.1	+	1	922	c.922T>C	c.(922-924)Ttc>Ctc	p.F308L	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	308	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAATTGGATTTCGAAAAAAT	0.363																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(922-924)Ttc>Ctc									100.0	117.0	111.0					5																	140502502		2202	4300	6502	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502502T>C	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.922T>C	5.37:g.140502502T>C	ENSP00000194152:p.Phe308Leu						p.F308L	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	922	+			308			Cadherin 3.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.922T>C	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	T	18.64	3.666626	0.67814	.	.	ENSG00000081818	ENST00000194152	T	0.51325	0.71	4.41	4.41	0.53225	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.71459	0.3342	M	0.89601	3.045	0.39761	D	0.972024	P	0.51147	0.942	P	0.62435	0.902	T	0.80023	-0.1556	9	0.87932	D	0	.	14.1043	0.65078	0.0:0.0:0.0:1.0	.	308	Q9Y5E5	PCDB4_HUMAN	L	308	ENSP00000194152:F308L	ENSP00000194152:F308L	F	+	1	0	PCDHB4	140482686	0.995000	0.38212	1.000000	0.80357	0.935000	0.57460	5.933000	0.70130	1.983000	0.57843	0.528000	0.53228	TTC		0.363	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		17	233	0	0	0	1	0	17	233				
ELOVL3	83401	broad.mit.edu	37	10	103986316	103986316	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:103986316C>T	ENST00000370005.3	+	1	232	c.11C>T	c.(10-12)gCc>gTc	p.A4V		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	4					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		ATGGTCACAGCCATGAATGTC	0.527																																						ENST00000370005.3																			0				breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16						c.(10-12)gCc>gTc		ELOVL fatty acid elongase 3							103.0	85.0	91.0					10																	103986316		2203	4300	6503	SO:0001583	missense	83401				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr10:103986316C>T	AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"""				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.11C>T	10.37:g.103986316C>T	ENSP00000359022:p.Ala4Val						p.A4V	NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)	1	232	+		Colorectal(252;0.207)	4					Q5VZL3|Q8N180	Missense_Mutation	SNP	ENST00000370005.3	37	c.11C>T	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997217	0.54147	.	.	ENSG00000119915	ENST00000370005	T	0.22945	1.93	4.32	1.16	0.20824	.	1.118960	0.07050	N	0.831755	T	0.10723	0.0262	N	0.08118	0	0.09310	N	1	B	0.19200	0.034	B	0.17098	0.017	T	0.36792	-0.9733	10	0.13470	T	0.59	-0.7239	2.4689	0.04560	0.1961:0.5072:0.1903:0.1065	.	4	Q9HB03	ELOV3_HUMAN	V	4	ENSP00000359022:A4V	ENSP00000359022:A4V	A	+	2	0	ELOVL3	103976306	0.153000	0.22777	0.108000	0.21378	0.750000	0.42670	0.095000	0.15127	0.551000	0.29008	0.561000	0.74099	GCC		0.527	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		11	93	0	0	0	1	0	11	93				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		4	68	0	0	0	1	0	4	68				
MGME1	92667	broad.mit.edu	37	20	17968909	17968909	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:17968909G>A	ENST00000377710.5	+	4	1120	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	MGME1_ENST00000467391.1_3'UTR|MGME1_ENST00000377704.4_Intron|MGME1_ENST00000377709.1_Missense_Mutation_p.A198T	NM_052865.2	NP_443097.1			mitochondrial genome maintenance exonuclease 1																		ATACATGGGTGCCATGAACCA	0.443																																						ENST00000377710.5																			0											c.(832-834)Gcc>Acc		mitochondrial genome maintenance exonuclease 1							109.0	97.0	101.0					20																	17968909		2203	4300	6503	SO:0001583	missense	92667							g.chr20:17968909G>A		CCDS13131.1	20p11.23	2013-08-29	2013-01-11	2013-01-11	ENSG00000125871	ENSG00000125871			16205	protein-coding gene	gene with protein product		615076	"""chromosome 20 open reading frame 72"""	C20orf72		23313956, 23358826, 23434322	Standard	NM_052865		Approved	bA504H3.4, DDK1	uc002wqh.3	Q9BQP7	OTTHUMG00000031955	ENST00000377710.5:c.832G>A	20.37:g.17968909G>A	ENSP00000366939:p.Ala278Thr					MGME1_ENST00000377704.4_Intron|MGME1_ENST00000467391.1_3'UTR|MGME1_ENST00000377709.1_Missense_Mutation_p.A198T	p.A278T	NM_052865.2	NP_443097.1					4	1120	+									Missense_Mutation	SNP	ENST00000377710.5	37	c.832G>A	CCDS13131.1	.	.	.	.	.	.	.	.	.	.	G	35	5.492335	0.96339	.	.	ENSG00000125871	ENST00000377710;ENST00000377709	T;T	0.69926	-0.44;-0.1	5.62	5.62	0.85841	.	0.046289	0.85682	D	0.000000	D	0.85915	0.5808	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88291	0.2943	10	0.87932	D	0	-16.4181	19.2525	0.93930	0.0:0.0:1.0:0.0	.	278	Q9BQP7	CT072_HUMAN	T	278;198	ENSP00000366939:A278T;ENSP00000366938:A198T	ENSP00000366938:A198T	A	+	1	0	C20orf72	17916909	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.397000	0.79903	2.645000	0.89757	0.462000	0.41574	GCC		0.443	MGME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078139.1	NM_052865		28	44	0	0	0	1	0	28	44				
SF1	7536	broad.mit.edu	37	11	64536983	64536983	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:64536983C>T	ENST00000377390.3	-	6	915	c.578G>A	c.(577-579)gGc>gAc	p.G193D	SF1_ENST00000422298.2_Missense_Mutation_p.G78D|SF1_ENST00000377387.1_Missense_Mutation_p.G318D|SF1_ENST00000227503.9_Missense_Mutation_p.G193D|SF1_ENST00000433274.2_Missense_Mutation_p.G167D|SF1_ENST00000377394.3_Missense_Mutation_p.G193D|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000334944.5_Missense_Mutation_p.G193D	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	193	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CAACATCTGGCCATCTTTGCG	0.517																																						ENST00000377390.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(577-579)gGc>gAc		splicing factor 1							272.0	265.0	268.0					11																	64536983		2201	4297	6498	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64536983C>T	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.578G>A	11.37:g.64536983C>T	ENSP00000366607:p.Gly193Asp					SF1_ENST00000422298.2_Missense_Mutation_p.G78D|SF1_ENST00000227503.9_Missense_Mutation_p.G193D|SF1_ENST00000377387.1_Missense_Mutation_p.G318D|SF1_ENST00000377394.3_Missense_Mutation_p.G193D|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000433274.2_Missense_Mutation_p.G167D|SF1_ENST00000334944.5_Missense_Mutation_p.G193D	p.G193D	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN			6	915	-			193			KH.		B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.578G>A	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	33	5.240007	0.95240	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.9	5.9	0.94986	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.099827	0.64402	D	0.000001	T	0.62950	0.2470	M	0.69523	2.12	0.80722	D	1	D;D;D;D;D;D	0.64830	0.97;0.992;0.992;0.994;0.992;0.992	P;P;P;P;P;P	0.62649	0.802;0.78;0.764;0.905;0.846;0.846	T	0.61802	-0.6988	10	0.51188	T	0.08	.	17.7661	0.88478	0.0:1.0:0.0:0.0	.	78;193;193;193;193;318	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	D	318;193;193;193;193;78;167	ENSP00000366604:G318D;ENSP00000366607:G193D;ENSP00000227503:G193D;ENSP00000366611:G193D;ENSP00000334414:G193D;ENSP00000413084:G78D;ENSP00000396793:G167D	ENSP00000227503:G193D	G	-	2	0	SF1	64293559	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.458000	0.80787	2.793000	0.96121	0.563000	0.77884	GGC		0.517	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		24	329	0	0	0	1	0	24	329				
NARFL	64428	broad.mit.edu	37	16	780544	780544	+	Missense_Mutation	SNP	G	G	A	rs143166023		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:780544G>A	ENST00000251588.2	-	11	1320	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V	NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000568545.1_Missense_Mutation_p.A333V|NARFL_ENST00000540986.1_Missense_Mutation_p.A333V	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	435					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				AACCCCAGGCGCGTCCTCGGG	0.682																																						ENST00000540986.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)	9						c.(997-999)gCg>gTg		nuclear prelamin A recognition factor-like		G	VAL/ALA	1,4399	2.1+/-5.4	0,1,2199	63.0	63.0	63.0		1304	-9.9	0.0	16	dbSNP_134	63	0,8592		0,0,4296	no	missense	NARFL	NM_022493.1	64	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	benign	435/477	780544	1,12991	2200	4296	6496	SO:0001583	missense	64428				iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	g.chr16:780544G>A	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.1304C>T	16.37:g.780544G>A	ENSP00000251588:p.Ala435Val					NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000568545.1_Missense_Mutation_p.A333V|NARFL_ENST00000251588.2_Missense_Mutation_p.A435V	p.A333V			Q9H6Q4	NARFL_HUMAN			10	2433	-		Hepatocellular(780;0.0218)	435					A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Missense_Mutation	SNP	ENST00000251588.2	37	c.998C>T	CCDS10425.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393340	0.25118	2.27E-4	0.0	ENSG00000103245	ENST00000251588;ENST00000540986	T;T	0.43688	0.94;0.94	4.94	-9.89	0.00464	Iron hydrogenase, small subunit-like (3);Iron hydrogenase (1);	1.020300	0.07767	N	0.951100	T	0.17577	0.0422	N	0.08118	0	0.09310	N	0.999996	B	0.09022	0.002	B	0.10450	0.005	T	0.38735	-0.9647	10	0.72032	D	0.01	-19.6697	7.2623	0.26209	0.2362:0.1348:0.5427:0.0864	.	435	Q9H6Q4	NARFL_HUMAN	V	435;333	ENSP00000251588:A435V;ENSP00000444008:A333V	ENSP00000251588:A435V	A	-	2	0	NARFL	720545	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.080000	0.11339	-1.610000	0.01583	-0.436000	0.05848	GCG		0.682	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	NM_022493		32	117	0	0	0	1	0	32	117				
SMARCC1	6599	broad.mit.edu	37	3	47704027	47704027	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:47704027C>T	ENST00000254480.5	-	20	2074	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	652	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		ATCCTGAGTACGACTTCCAAC	0.458																																						ENST00000254480.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1954-1956)cGt>cAt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							112.0	100.0	104.0					3																	47704027		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47704027C>T	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1955G>A	3.37:g.47704027C>T	ENSP00000254480:p.Arg652His					SMARCC1_ENST00000425518.1_5'UTR	p.R652H	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	20	2074	-			652			SANT.		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.1955G>A	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733072	0.89482	.	.	ENSG00000173473	ENST00000254480	T	0.67171	-0.25	5.04	4.17	0.49024	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	D	0.83622	0.5294	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.86701	0.1929	10	0.87932	D	0	-12.4627	12.7164	0.57117	0.0:0.92:0.0:0.08	.	652	Q92922	SMRC1_HUMAN	H	652	ENSP00000254480:R652H	ENSP00000254480:R652H	R	-	2	0	SMARCC1	47679031	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	7.627000	0.83176	1.248000	0.43934	0.591000	0.81541	CGT		0.458	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			21	49	0	0	0	1	0	21	49				
ANKIB1	54467	broad.mit.edu	37	7	91972488	91972488	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:91972488C>T	ENST00000265742.3	+	6	1314	c.938C>T	c.(937-939)tCt>tTt	p.S313F		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	313							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTACACGCTCTTCTGTCACC	0.473																																						ENST00000265742.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41						c.(937-939)tCt>tTt		ankyrin repeat and IBR domain containing 1							131.0	120.0	124.0					7																	91972488		1960	4157	6117	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:91972488C>T	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.938C>T	7.37:g.91972488C>T	ENSP00000265742:p.Ser313Phe						p.S313F	NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		6	1314	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		313					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.938C>T	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890470	0.72524	.	.	ENSG00000001629	ENST00000265742	T	0.13089	2.62	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.34716	0.0907	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	D	0.63488	0.915	T	0.02179	-1.1200	10	0.87932	D	0	.	19.5099	0.95137	0.0:1.0:0.0:0.0	.	313	Q9P2G1	AKIB1_HUMAN	F	313	ENSP00000265742:S313F	ENSP00000265742:S313F	S	+	2	0	ANKIB1	91810424	1.000000	0.71417	0.986000	0.45419	0.839000	0.47603	7.476000	0.81055	2.627000	0.88993	0.561000	0.74099	TCT		0.473	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			5	67	0	0	0	1	0	5	67				
SEMA5A	9037	broad.mit.edu	37	5	9224815	9224815	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:9224815G>A	ENST00000382496.5	-	8	1282	c.617C>T	c.(616-618)aCg>aTg	p.T206M		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	206	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTACTGCGCCGTGCGGAGAGG	0.512																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(616-618)aCg>aTg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							120.0	101.0	107.0					5																	9224815		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9224815G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.617C>T	5.37:g.9224815G>A	ENSP00000371936:p.Thr206Met						p.T206M	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			8	1282	-			206			Sema.		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.617C>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012069	0.75046	.	.	ENSG00000112902	ENST00000382496;ENST00000513968	T;T	0.29397	1.57;1.57	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.69106	0.3074	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79976	-0.1576	10	0.87932	D	0	.	16.6453	0.85175	0.0:0.0:1.0:0.0	.	206	Q13591	SEM5A_HUMAN	M	206	ENSP00000371936:T206M;ENSP00000421961:T206M	ENSP00000371936:T206M	T	-	2	0	SEMA5A	9277815	1.000000	0.71417	0.193000	0.23327	0.674000	0.39518	9.158000	0.94723	2.520000	0.84964	0.650000	0.86243	ACG		0.512	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			17	38	0	0	0	1	0	17	38				
ZNF341	84905	broad.mit.edu	37	20	32371563	32371563	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:32371563G>C	ENST00000375200.1	+	12	2110	c.1745G>C	c.(1744-1746)cGg>cCg	p.R582P	ZNF341_ENST00000342427.2_Missense_Mutation_p.R575P	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	582					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CGCTACCTGCGGCGTCATCTG	0.587																																						ENST00000375200.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						c.(1744-1746)cGg>cCg		zinc finger protein 341							76.0	73.0	74.0					20																	32371563		2203	4300	6503	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32371563G>C	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1745G>C	20.37:g.32371563G>C	ENSP00000364346:p.Arg582Pro					ZNF341_ENST00000342427.2_Missense_Mutation_p.R575P	p.R582P			Q9BYN7	ZN341_HUMAN			12	2110	+			582					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.1745G>C		.	.	.	.	.	.	.	.	.	.	G	24.0	4.478722	0.84747	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.79554	-1.28;-1.28	4.3	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.146210	0.43919	D	0.000506	D	0.89389	0.6701	M	0.80847	2.515	0.52501	D	0.999953	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.88144	0.2846	10	0.30078	T	0.28	-11.8124	17.3677	0.87367	0.0:0.0:1.0:0.0	.	523;582;575	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	P	575;582	ENSP00000344308:R575P;ENSP00000364346:R582P	ENSP00000344308:R575P	R	+	2	0	ZNF341	31835224	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.463000	0.80869	2.418000	0.82041	0.298000	0.19748	CGG		0.587	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				25	95	0	0	0	1	0	25	95				
CARD11	84433	broad.mit.edu	37	7	2979480	2979480	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:2979480T>G	ENST00000396946.4	-	6	1170	c.767A>C	c.(766-768)gAc>gCc	p.D256A		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	256					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ATTTTCAATGTCATTCTTCAG	0.468			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(766-768)gAc>gCc		caspase recruitment domain family, member 11							174.0	163.0	167.0					7																	2979480		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2979480T>G	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.767A>C	7.37:g.2979480T>G	ENSP00000380150:p.Asp256Ala						p.D256A	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	6	1170	-		Ovarian(82;0.0115)	256					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.767A>C	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	T	18.20	3.570203	0.65765	.	.	ENSG00000198286	ENST00000396946	T	0.32988	1.43	5.67	5.67	0.87782	.	0.097561	0.64402	D	0.000002	T	0.19525	0.0469	N	0.16790	0.44	0.44234	D	0.997074	B	0.22414	0.069	B	0.24394	0.053	T	0.10019	-1.0648	10	0.21540	T	0.41	-42.3611	11.8979	0.52665	0.0:0.0:0.1454:0.8546	.	256	Q9BXL7	CAR11_HUMAN	A	256	ENSP00000380150:D256A	ENSP00000380150:D256A	D	-	2	0	CARD11	2946006	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.627000	0.67784	2.172000	0.68678	0.472000	0.43445	GAC		0.468	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		42	146	0	0	0	1	0	42	146				
KCNH2	3757	broad.mit.edu	37	7	150648901	150648901	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:150648901G>A	ENST00000262186.5	-	7	1981	c.1580C>T	c.(1579-1581)gCg>gTg	p.A527V	KCNH2_ENST00000392968.2_Missense_Mutation_p.A431V|KCNH2_ENST00000430723.3_Missense_Mutation_p.A527V|KCNH2_ENST00000330883.4_Missense_Mutation_p.A187V	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	527					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CAGCAGCCGCGCAGTCTTCAG	0.667																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1291-1293)gCg>gTg		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						24.0	27.0	26.0					7																	150648901		2200	4294	6494	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150648901G>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1580C>T	7.37:g.150648901G>A	ENSP00000262186:p.Ala527Val					KCNH2_ENST00000262186.5_Missense_Mutation_p.A527V|KCNH2_ENST00000430723.3_Missense_Mutation_p.A527V|KCNH2_ENST00000330883.4_Missense_Mutation_p.A187V	p.A431V			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	2412	-	all_neural(206;0.219)		527					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.1292C>T	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753134	0.69648	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84	4.08	4.08	0.47627	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98229	0.9414	L	0.49699	1.58	0.53005	D	0.999965	D;D;D;D;P	0.89917	1.0;1.0;0.978;0.994;0.946	D;D;P;P;P	0.83275	0.996;0.995;0.832;0.861;0.606	D	0.98385	1.0560	10	0.52906	T	0.07	.	13.8392	0.63428	0.0:0.0:1.0:0.0	.	431;527;187;527;187	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	V	187;431;527;187;527	ENSP00000328531:A187V;ENSP00000376695:A431V;ENSP00000262186:A527V;ENSP00000387657:A527V	ENSP00000262186:A527V	A	-	2	0	KCNH2	150279834	1.000000	0.71417	0.800000	0.32199	0.358000	0.29455	9.506000	0.97992	2.126000	0.65437	0.491000	0.48974	GCG		0.667	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		17	45	0	0	0	1	0	17	45				
DHX37	57647	broad.mit.edu	37	12	125467155	125467155	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:125467155T>C	ENST00000308736.2	-	3	389	c.291A>G	c.(289-291)ctA>ctG	p.L97L	DHX37_ENST00000544745.1_5'Flank	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	97							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TCAGCTTCTGTAGCATCTCTG	0.458																																						ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(289-291)ctA>ctG		DEAH (Asp-Glu-Ala-His) box polypeptide 37							206.0	194.0	198.0					12																	125467155		2203	4300	6503	SO:0001819	synonymous_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125467155T>C	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.291A>G	12.37:g.125467155T>C							p.L97L	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	3	389	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		97					Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	37	c.291A>G	CCDS9261.1																																																																																				0.458	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		6	391	0	0	0	1	0	6	391				
CROCC	9696	broad.mit.edu	37	1	17281861	17281861	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:17281861C>T	ENST00000375541.5	+	24	3589	c.3520C>T	c.(3520-3522)Cgg>Tgg	p.R1174W		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGACGGGCTGCGGCGGGAGCT	0.721																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(3520-3522)Cgg>Tgg		ciliary rootlet coiled-coil, rootletin							14.0	18.0	17.0					1																	17281861		2166	4266	6432	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17281861C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3520C>T	1.37:g.17281861C>T	ENSP00000364691:p.Arg1174Trp						p.R1174W	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	24	3589	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1174						Missense_Mutation	SNP	ENST00000375541.5	37	c.3520C>T	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048958	0.36181	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.58060	0.36	4.31	4.31	0.51392	.	.	.	.	.	T	0.73164	0.3552	M	0.81497	2.545	0.43550	D	0.995856	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.78125	-0.2326	9	0.87932	D	0	.	15.0938	0.72217	0.0:1.0:0.0:0.0	.	477;1174	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	W	1174;1055	ENSP00000364691:R1174W	ENSP00000364691:R1174W	R	+	1	2	CROCC	17154448	0.962000	0.33011	0.997000	0.53966	0.148000	0.21650	1.735000	0.38176	2.343000	0.79666	0.561000	0.74099	CGG		0.721	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		12	51	0	0	0	1	0	12	51				
GPR173	54328	broad.mit.edu	37	X	53105860	53105860	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:53105860C>T	ENST00000332582.4	+	2	548	c.57C>T	c.(55-57)tcC>tcT	p.S19S		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	19					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CCCCACCGTCCGCATCAGCTT	0.617																																						ENST00000332582.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						c.(55-57)tcC>tcT		G protein-coupled receptor 173							77.0	52.0	61.0					X																	53105860		2203	4300	6503	SO:0001819	synonymous_variant	54328					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:53105860C>T	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.57C>T	X.37:g.53105860C>T							p.S19S	NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN			2	548	+			19					B1B0A5	Silent	SNP	ENST00000332582.4	37	c.57C>T	CCDS14349.1																																																																																				0.617	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		14	17	0	0	0	1	0	14	17				
GPR37L1	9283	broad.mit.edu	37	1	202096921	202096921	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:202096921G>A	ENST00000367282.5	+	2	789	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	228					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GGCATTGACCGCTTCCACGTG	0.592																																						ENST00000367282.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.(682-684)cGc>cAc		G protein-coupled receptor 37 like 1							86.0	81.0	82.0					1																	202096921		2203	4300	6503	SO:0001583	missense	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202096921G>A	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.683G>A	1.37:g.202096921G>A	ENSP00000356251:p.Arg228His						p.R228H	NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN			2	789	+			228					B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	ENST00000367282.5	37	c.683G>A	CCDS1420.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082496	0.94050	.	.	ENSG00000170075	ENST00000541334;ENST00000367282	D	0.97161	-4.27	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98745	0.9578	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99731	1.1012	10	0.87932	D	0	-48.2365	18.8454	0.92203	0.0:0.0:1.0:0.0	.	228	O60883	ETBR2_HUMAN	H	95;228	ENSP00000356251:R228H	ENSP00000356251:R228H	R	+	2	0	GPR37L1	200363544	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.799000	0.99117	2.542000	0.85734	0.555000	0.69702	CGC		0.592	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		24	54	0	0	0	1	0	24	54				
RNASE9	390443	broad.mit.edu	37	14	21024858	21024858	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:21024858T>G	ENST00000557068.1	-	4	2096	c.371A>C	c.(370-372)aAg>aCg	p.K124T	RNASE9_ENST00000404716.3_Missense_Mutation_p.K129T|RNASE9_ENST00000554964.1_Missense_Mutation_p.K124T|RNASE9_ENST00000338904.3_Missense_Mutation_p.K124T|RNASE9_ENST00000555230.1_Missense_Mutation_p.K124T|RNASE9_ENST00000553541.1_Missense_Mutation_p.K124T|RNASE9_ENST00000553706.1_Missense_Mutation_p.K129T|RNASE9_ENST00000429244.2_Missense_Mutation_p.K124T|RNASE9_ENST00000557209.1_Missense_Mutation_p.K129T|RNASE9_ENST00000556208.1_Missense_Mutation_p.K129T			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	124						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		AATTCCATTCTTACATGGCAC	0.363																																						ENST00000557068.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8						c.(370-372)aAg>aCg		ribonuclease, RNase A family, 9 (non-active)							76.0	69.0	71.0					14																	21024858		2203	4300	6503	SO:0001583	missense	390443					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21024858T>G	AY665804	CCDS32036.1, CCDS53883.1, CCDS55904.1	14q11.2	2006-10-31				ENSG00000188655		"""Ribonucleases, RNase A"""	20673	protein-coding gene	gene with protein product		614014				15676279, 12920233	Standard	NM_001001673		Approved	h461	uc010ahu.3	P60153		ENST00000557068.1:c.371A>C	14.37:g.21024858T>G	ENSP00000451565:p.Lys124Thr					RNASE9_ENST00000338904.3_Missense_Mutation_p.K124T|RNASE9_ENST00000553706.1_Missense_Mutation_p.K129T|RNASE9_ENST00000557209.1_Missense_Mutation_p.K129T|RNASE9_ENST00000556208.1_Missense_Mutation_p.K129T|RNASE9_ENST00000429244.2_Missense_Mutation_p.K124T|RNASE9_ENST00000404716.3_Missense_Mutation_p.K129T|RNASE9_ENST00000555230.1_Missense_Mutation_p.K124T|RNASE9_ENST00000553541.1_Missense_Mutation_p.K124T|RNASE9_ENST00000554964.1_Missense_Mutation_p.K124T	p.K124T			P60153	RNAS9_HUMAN	Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)	4	2096	-	all_cancers(95;0.00238)		124					A2RQR8|A8QJS1|Q5GAN7|Q6KG53	Missense_Mutation	SNP	ENST00000557068.1	37	c.371A>C	CCDS32036.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.435994	0.25813	.	.	ENSG00000188655	ENST00000338904;ENST00000554964;ENST00000555230;ENST00000557068;ENST00000404716;ENST00000556208;ENST00000553541;ENST00000429244;ENST00000553706;ENST00000557209	T;T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	3.62	2.44	0.29823	Ribonuclease A, domain (3);	.	.	.	.	T	0.48187	0.1486	L	0.46157	1.445	0.29286	N	0.86973	P;P	0.47034	0.889;0.865	P;P	0.50896	0.653;0.618	T	0.45352	-0.9267	9	0.87932	D	0	-13.1246	7.0213	0.24916	0.0:0.0:0.2333:0.7667	.	124;129	P60153;P60153-2	RNAS9_HUMAN;.	T	124;124;124;124;129;129;124;124;129;129	ENSP00000340162:K124T;ENSP00000450599:K124T;ENSP00000450800:K124T;ENSP00000451565:K124T;ENSP00000384683:K129T;ENSP00000451160:K129T;ENSP00000451285:K124T;ENSP00000409504:K124T;ENSP00000450570:K129T;ENSP00000450987:K129T	ENSP00000340162:K124T	K	-	2	0	RNASE9	20094698	0.047000	0.20315	0.997000	0.53966	0.043000	0.13939	0.072000	0.14617	0.731000	0.32448	0.482000	0.46254	AAG		0.363	RNASE9-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411094.1	NM_001001673		17	29	0	0	0	1	0	17	29				
BBS9	27241	broad.mit.edu	37	7	33390830	33390830	+	Splice_Site	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:33390830G>A	ENST00000242067.6	+	14	1953		c.e14-1		BBS9_ENST00000354265.4_Intron|BBS9_ENST00000396127.2_Intron|BBS9_ENST00000355070.2_Splice_Site|BBS9_ENST00000350941.3_Intron	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9						cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ATTGCTTATAGCACCAGATTT	0.328									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.e14-1		Bardet-Biedl syndrome 9							64.0	65.0	65.0					7																	33390830		2203	4295	6498	SO:0001630	splice_region_variant	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33390830G>A		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1433-1G>A	7.37:g.33390830G>A						BBS9_ENST00000350941.3_Intron|BBS9_ENST00000354265.4_Intron|BBS9_ENST00000355070.2_Splice_Site|BBS9_ENST00000396127.2_Intron		NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		14	1953	+								E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Splice_Site	SNP	ENST00000242067.6	37		CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589520	0.66105	.	.	ENSG00000122507	ENST00000242067;ENST00000355070;ENST00000396132;ENST00000537775;ENST00000434373	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8571	0.78987	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BBS9	33357355	1.000000	0.71417	0.976000	0.42696	0.969000	0.65631	5.894000	0.69806	2.284000	0.76573	0.557000	0.71058	.		0.328	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1		Intron	17	39	0	0	0	1	0	17	39				
PSME4	23198	broad.mit.edu	37	2	54101589	54101589	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:54101589T>C	ENST00000404125.1	-	43	5042	c.4987A>G	c.(4987-4989)Acc>Gcc	p.T1663A	PSME4_ENST00000421748.2_Missense_Mutation_p.T807A|PSME4_ENST00000476586.1_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1663	Bromodomain-like (BRDL).				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGGAGGTAGGTCAGTACTGTG	0.378																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(4987-4989)Acc>Gcc		proteasome (prosome, macropain) activator subunit 4							88.0	85.0	86.0					2																	54101589		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54101589T>C	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4987A>G	2.37:g.54101589T>C	ENSP00000384211:p.Thr1663Ala					PSME4_ENST00000421748.2_Missense_Mutation_p.T807A|PSME4_ENST00000476586.1_Intron	p.T1663A	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		43	5042	-			1663					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.4987A>G	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	T	16.61	3.171579	0.57584	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.64085	-0.08;-0.08	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71995	0.3406	M	0.70903	2.155	0.80722	D	1	P;D;P	0.59767	0.842;0.986;0.846	P;P;B	0.58520	0.553;0.84;0.351	T	0.68823	-0.5307	10	0.08837	T	0.75	-15.1188	16.2269	0.82300	0.0:0.0:0.0:1.0	.	1038;807;1663	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	A	807;1663	ENSP00000410830:T807A;ENSP00000384211:T1663A	ENSP00000384211:T1663A	T	-	1	0	PSME4	53955093	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.655000	0.83696	2.296000	0.77279	0.482000	0.46254	ACC		0.378	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		14	51	0	0	0	1	0	14	51				
LLGL2	3993	broad.mit.edu	37	17	73564668	73564668	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:73564668A>G	ENST00000392550.3	+	11	1265	c.1148A>G	c.(1147-1149)cAc>cGc	p.H383R	LLGL2_ENST00000167462.5_Missense_Mutation_p.H383R|LLGL2_ENST00000577200.1_Missense_Mutation_p.H383R	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	383					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCTTCTCTGCACTGTTCCGCC	0.637																																						ENST00000392550.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1147-1149)cAc>cGc		lethal giant larvae homolog 2 (Drosophila)							58.0	50.0	52.0					17																	73564668		2203	4300	6503	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73564668A>G	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1148A>G	17.37:g.73564668A>G	ENSP00000376333:p.His383Arg					LLGL2_ENST00000577200.1_Missense_Mutation_p.H383R|LLGL2_ENST00000167462.5_Missense_Mutation_p.H383R	p.H383R	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		11	1265	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		383					Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.1148A>G	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.345126	0.41498	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.16073	2.37;2.37	5.33	5.33	0.75918	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.86864	2.845	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;0.997;1.0;0.999	T	0.57370	-0.7823	10	0.87932	D	0	-31.0748	15.2923	0.73875	1.0:0.0:0.0:0.0	.	372;372;383;383	B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;L2GL2_HUMAN	R	383;383;372	ENSP00000167462:H383R;ENSP00000376333:H383R	ENSP00000167462:H383R	H	+	2	0	LLGL2	71076263	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	9.281000	0.95811	2.003000	0.58678	0.459000	0.35465	CAC		0.637	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		4	60	0	0	0	1	0	4	60				
PATE1	160065	broad.mit.edu	37	11	125617283	125617283	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:125617283T>C	ENST00000305738.5	+	3	113	c.101T>C	c.(100-102)gTt>gCt	p.V34A	PATE1_ENST00000437148.2_Intron	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	34						extracellular region (GO:0005576)				large_intestine(1)|lung(5)	6						AATGAAATAGTTGCTGTGAAA	0.393																																						ENST00000305738.5																			0				large_intestine(1)|lung(5)	6						c.(100-102)gTt>gCt		prostate and testis expressed 1							211.0	199.0	203.0					11																	125617283		2201	4299	6500	SO:0001583	missense	160065					extracellular region		g.chr11:125617283T>C	AF462605	CCDS8464.1	11q24.2	2008-12-17				ENSG00000171053		"""PATE family"""	24664	protein-coding gene	gene with protein product	"""expressed in prostate and testis"""	606861				11880645, 15798027	Standard	NM_138294		Approved	PATE	uc001qct.3	Q8WXA2		ENST00000305738.5:c.101T>C	11.37:g.125617283T>C	ENSP00000307164:p.Val34Ala					PATE1_ENST00000437148.2_Intron	p.V34A	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN			3	113	+			34					Q3KNX2	Missense_Mutation	SNP	ENST00000305738.5	37	c.101T>C	CCDS8464.1	.	.	.	.	.	.	.	.	.	.	T	1.988	-0.432586	0.04669	.	.	ENSG00000171053	ENST00000305738	T	0.25250	1.81	3.79	-2.95	0.05564	.	2.435580	0.02004	N	0.046553	T	0.11024	0.0269	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19353	-1.0308	10	0.07644	T	0.81	-0.6442	5.2398	0.15465	0.1371:0.3687:0.0:0.4942	.	34	Q8WXA2	PATE1_HUMAN	A	34	ENSP00000307164:V34A	ENSP00000307164:V34A	V	+	2	0	PATE1	125122493	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.643000	0.05421	-1.038000	0.03279	-1.447000	0.01057	GTT		0.393	PATE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386726.2	NM_138294		52	195	0	0	0	1	0	52	195				
IPCEF1	26034	broad.mit.edu	37	6	154521162	154521162	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:154521162C>T	ENST00000265198.4	-	10	702	c.547G>A	c.(547-549)Gca>Aca	p.A183T	IPCEF1_ENST00000422970.2_Missense_Mutation_p.A184T|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000519344.1_Missense_Mutation_p.A155T|IPCEF1_ENST00000519091.1_5'UTR|IPCEF1_ENST00000367220.4_Missense_Mutation_p.A184T	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	183					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						GATGAAGATGCCTGCTGTGCA	0.388																																						ENST00000265198.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						c.(547-549)Gca>Aca		interaction protein for cytohesin exchange factors 1							52.0	54.0	53.0					6																	154521162		2203	4300	6503	SO:0001583	missense	26034							g.chr6:154521162C>T	AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.547G>A	6.37:g.154521162C>T	ENSP00000265198:p.Ala183Thr					IPCEF1_ENST00000367220.4_Missense_Mutation_p.A184T|IPCEF1_ENST00000422970.2_Missense_Mutation_p.A184T|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000519091.1_5'UTR|IPCEF1_ENST00000519344.1_Missense_Mutation_p.A155T	p.A183T	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1					10	702	-								A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Missense_Mutation	SNP	ENST00000265198.4	37	c.547G>A	CCDS5245.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518343	0.44763	.	.	ENSG00000074706	ENST00000265198;ENST00000422970;ENST00000367220;ENST00000519344;ENST00000517438	T;T;T;T;T	0.14893	2.47;2.47;2.47;2.48;2.47	5.82	4.03	0.46877	.	0.570772	0.20639	N	0.088427	T	0.04182	0.0116	L	0.42245	1.32	0.09310	N	0.999994	B;B;B	0.14438	0.008;0.01;0.002	B;B;B	0.12156	0.003;0.005;0.007	T	0.37384	-0.9708	10	0.15066	T	0.55	-24.2372	6.6958	0.23197	0.178:0.7346:0.0:0.0874	.	183;184;155	Q8WWN9;Q8WWN9-2;G3V132	ICEF1_HUMAN;.;.	T	183;184;184;155;155	ENSP00000265198:A183T;ENSP00000394751:A184T;ENSP00000356189:A184T;ENSP00000430287:A155T;ENSP00000431092:A155T	ENSP00000265198:A183T	A	-	1	0	IPCEF1	154562854	0.951000	0.32395	0.890000	0.34922	0.993000	0.82548	0.777000	0.26718	1.441000	0.47550	0.655000	0.94253	GCA		0.388	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2	NM_001130699		10	43	0	0	0	1	0	10	43				
PCDHA12	56137	broad.mit.edu	37	5	140255808	140255808	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140255808T>C	ENST00000398631.2	+	1	751	c.751T>C	c.(751-753)Ttg>Ctg	p.L251L	PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	251	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAGTAGTGTTGTCTGAAAA	0.423																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(751-753)Ttg>Ctg									105.0	105.0	105.0					5																	140255808		1887	4101	5988	SO:0001819	synonymous_variant	56137							g.chr5:140255808T>C	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.751T>C	5.37:g.140255808T>C						PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron	p.L251L	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	751	+								O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.751T>C	CCDS47285.1																																																																																				0.423	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		7	143	0	0	0	1	0	7	143				
RAC3	5881	broad.mit.edu	37	17	79991386	79991386	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:79991386G>T	ENST00000306897.4	+	5	497	c.359G>T	c.(358-360)cGc>cTc	p.R120L		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	120					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGGACCTCCGCGACGACAAG	0.667																																						ENST00000306897.4																			0				NS(1)|kidney(1)|skin(1)	3						c.(358-360)cGc>cTc		ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)							54.0	51.0	52.0					17																	79991386		2200	4300	6500	SO:0001583	missense	5881				actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:79991386G>T	AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750		"""Endogenous ligands"""	9803	protein-coding gene	gene with protein product		602050					Standard	NM_005052		Approved		uc002kdf.3	P60763		ENST00000306897.4:c.359G>T	17.37:g.79991386G>T	ENSP00000304283:p.Arg120Leu						p.R120L	NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		5	497	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		120					O14658|Q5U0M8	Missense_Mutation	SNP	ENST00000306897.4	37	c.359G>T	CCDS11798.1	.	.	.	.	.	.	.	.	.	.	g	33	5.263221	0.95399	.	.	ENSG00000169750	ENST00000306897	T	0.77620	-1.11	3.91	3.91	0.45181	Small GTP-binding protein domain (1);	0.071145	0.53938	D	0.000045	D	0.89406	0.6706	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91573	0.5273	9	.	.	.	.	16.1115	0.81266	0.0:0.0:1.0:0.0	.	120	P60763	RAC3_HUMAN	L	120	ENSP00000304283:R120L	.	R	+	2	0	RAC3	77584675	1.000000	0.71417	0.892000	0.35008	0.982000	0.71751	9.313000	0.96297	2.000000	0.58554	0.651000	0.88453	CGC		0.667	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1			15	43	1	0	7.05477e-17	1	7.41646e-17	15	43				
EIF2AK3	9451	broad.mit.edu	37	2	88870488	88870488	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:88870488G>A	ENST00000303236.3	-	14	3190	c.2889C>T	c.(2887-2889)gaC>gaT	p.D963D	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Silent_p.D812D	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	963	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						CCTCATCCTGGTCCATTGCAG	0.468																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(2887-2889)gaC>gaT		eukaryotic translation initiation factor 2-alpha kinase 3							269.0	227.0	241.0					2																	88870488		2203	4300	6503	SO:0001819	synonymous_variant	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88870488G>A	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2889C>T	2.37:g.88870488G>A						EIF2AK3_ENST00000419748.1_Silent_p.D812D|EIF2AK3_ENST00000470706.1_5'UTR|AC104134.2_ENST00000413234.1_RNA	p.D963D	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			14	3190	-			963			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Silent	SNP	ENST00000303236.3	37	c.2889C>T	CCDS33241.1																																																																																				0.468	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		39	124	0	0	0	1	0	39	124				
TOMM20L	387990	broad.mit.edu	37	14	58869469	58869469	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:58869469G>A	ENST00000360945.2	+	3	294	c.252G>A	c.(250-252)tgG>tgA	p.W84*	RP11-517O13.1_ENST00000556734.1_RNA	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	84					protein targeting (GO:0006605)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)				large_intestine(2)|lung(2)	4						GAGAACTTTGGTTATCTAGAG	0.308																																						ENST00000360945.2																			0				large_intestine(2)|lung(2)	4						c.(250-252)tgG>tgA		translocase of outer mitochondrial membrane 20 homolog (yeast)-like							144.0	162.0	156.0					14																	58869469		2203	4300	6503	SO:0001587	stop_gained	387990				protein targeting	integral to membrane|mitochondrial outer membrane translocase complex		g.chr14:58869469G>A		CCDS9734.1	14q23.1	2009-01-14			ENSG00000196860	ENSG00000196860			33752	protein-coding gene	gene with protein product	"""translocase of outer mitochondrial membrane 20 homolog type I"""					15733919	Standard	NM_207377		Approved	UNQ9438	uc001xdr.1	Q6UXN7	OTTHUMG00000140323	ENST00000360945.2:c.252G>A	14.37:g.58869469G>A	ENSP00000354204:p.Trp84*					RP11-517O13.1_ENST00000556734.1_RNA	p.W84*	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN			3	294	+			84					B2RPR0	Nonsense_Mutation	SNP	ENST00000360945.2	37	c.252G>A	CCDS9734.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825814	0.71143	.	.	ENSG00000196860	ENST00000360945	.	.	.	4.93	1.95	0.26073	.	0.643768	0.13918	N	0.353770	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	0.0119	11.6543	0.51309	0.0:0.0:0.5179:0.4821	.	.	.	.	X	84	.	ENSP00000354204:W84X	W	+	3	0	TOMM20L	57939222	1.000000	0.71417	0.972000	0.41901	0.986000	0.74619	0.743000	0.26231	0.230000	0.21059	-0.196000	0.12772	TGG		0.308	TOMM20L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276937.1	NM_207377		8	152	0	0	0	1	0	8	152				
FBXL3	26224	broad.mit.edu	37	13	77581451	77581451	+	Silent	SNP	T	T	C	rs201176626		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:77581451T>C	ENST00000355619.5	-	5	1440	c.1116A>G	c.(1114-1116)tcA>tcG	p.S372S	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	372					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		AGGCACTACATGAGACTTCAC	0.408																																						ENST00000355619.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16						c.(1114-1116)tcA>tcG		F-box and leucine-rich repeat protein 3							141.0	131.0	135.0					13																	77581451		2203	4300	6503	SO:0001819	synonymous_variant	26224				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr13:77581451T>C	AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.1116A>G	13.37:g.77581451T>C						FBXL3_ENST00000477982.1_Intron	p.S372S	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN		GBM - Glioblastoma multiforme(99;0.0521)	5	1440	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)	372					B2RB04|Q9P122	Silent	SNP	ENST00000355619.5	37	c.1116A>G	CCDS9457.1																																																																																				0.408	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			26	102	0	0	0	1	0	26	102				
MYH7B	57644	broad.mit.edu	37	20	33565879	33565879	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:33565879T>C	ENST00000262873.7	+	3	289	c.197T>C	c.(196-198)gTg>gCg	p.V66A		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	24						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ATGACGAAGGTGCACACTATC	0.592																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(196-198)gTg>gCg		myosin, heavy chain 7B, cardiac muscle, beta							57.0	60.0	59.0					20																	33565879		2172	4277	6449	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33565879T>C	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.197T>C	20.37:g.33565879T>C	ENSP00000262873:p.Val66Ala						p.V66A	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		3	289	+			24					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.197T>C	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	T	3.836	-0.034762	0.07543	.	.	ENSG00000078814	ENST00000262873	D	0.84800	-1.9	4.84	3.73	0.42828	.	0.000000	0.31554	N	0.007444	T	0.63200	0.2491	N	0.08118	0	0.26182	N	0.979719	B	0.02656	0.0	B	0.01281	0.0	T	0.50972	-0.8764	10	0.02654	T	1	.	6.3667	0.21459	0.1401:0.0772:0.0:0.7826	.	24	A7E2Y1	MYH7B_HUMAN	A	66	ENSP00000262873:V66A	ENSP00000262873:V66A	V	+	2	0	MYH7B	33029540	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.222000	0.42926	0.877000	0.35895	0.533000	0.62120	GTG		0.592	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		31	90	0	0	0	1	0	31	90				
PCDHA11	56138	broad.mit.edu	37	5	140250599	140250599	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140250599C>T	ENST00000398640.2	+	1	1911	c.1911C>T	c.(1909-1911)gaC>gaT	p.D637D	PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D637D(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCTGGACGAGGCAGACT	0.662																																						ENST00000398640.2																			1	Substitution - coding silent(1)	p.D637D(1)	kidney(1)	breast(1)|lung(1)	2						c.(1909-1911)gaC>gaT									44.0	51.0	48.0					5																	140250599		2203	4298	6501	SO:0001819	synonymous_variant	56138							g.chr5:140250599C>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1911C>T	5.37:g.140250599C>T						PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron	p.D637D	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1911	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1911C>T	CCDS47284.1																																																																																				0.662	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		34	115	0	0	0	1	0	34	115				
LRRK2	120892	broad.mit.edu	37	12	40629496	40629496	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:40629496T>C	ENST00000298910.7	+	4	474	c.416T>C	c.(415-417)tTa>tCa	p.L139S	LRRK2_ENST00000343742.2_Missense_Mutation_p.L139S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	139					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTGAAGACCTTAGATCTCCTC	0.308																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(415-417)tTa>tCa		leucine-rich repeat kinase 2							176.0	156.0	163.0					12																	40629496		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40629496T>C	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.416T>C	12.37:g.40629496T>C	ENSP00000298910:p.Leu139Ser					LRRK2_ENST00000343742.2_Missense_Mutation_p.L139S	p.L139S	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			4	474	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	139					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.416T>C	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.049909	0.75846	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.76316	-1.01;-0.69;0.3	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000007	D	0.85991	0.5826	L	0.59436	1.845	0.43703	D	0.996166	D	0.89917	1.0	D	0.87578	0.998	D	0.87274	0.2288	10	0.87932	D	0	.	15.1639	0.72807	0.0:0.0:0.0:1.0	.	139	Q5S007	LRRK2_HUMAN	S	68;139;139	ENSP00000398726:L68S;ENSP00000341930:L139S;ENSP00000298910:L139S	ENSP00000298910:L139S	L	+	2	0	LRRK2	38915763	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.669000	0.68081	2.212000	0.71576	0.533000	0.62120	TTA		0.308	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		10	55	0	0	0	1	0	10	55				
PCDH11X	27328	broad.mit.edu	37	X	91133579	91133579	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:91133579A>G	ENST00000373094.1	+	2	3185	c.2340A>G	c.(2338-2340)acA>acG	p.T780T	PCDH11X_ENST00000373088.1_Silent_p.T780T|PCDH11X_ENST00000504220.2_Silent_p.T780T|PCDH11X_ENST00000373097.1_Silent_p.T780T|PCDH11X_ENST00000406881.1_Silent_p.T780T|PCDH11X_ENST00000361655.2_Silent_p.T780T|PCDH11X_ENST00000298274.8_Silent_p.T780T|PCDH11X_ENST00000361724.1_Silent_p.T780T|PCDH11X_ENST00000395337.2_Silent_p.T780T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	780	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCAATGCTACACTGATTAATG	0.438																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2338-2340)acA>acG		protocadherin 11 X-linked							221.0	179.0	193.0					X																	91133579		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133579A>G	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2340A>G	X.37:g.91133579A>G						PCDH11X_ENST00000298274.8_Silent_p.T780T|PCDH11X_ENST00000504220.1_Silent_p.T780T|PCDH11X_ENST00000406881.1_Silent_p.T780T|PCDH11X_ENST00000373097.1_Silent_p.T780T|PCDH11X_ENST00000395337.2_Silent_p.T780T|PCDH11X_ENST00000373088.1_Silent_p.T780T|PCDH11X_ENST00000361724.1_Silent_p.T780T|PCDH11X_ENST00000361655.2_Silent_p.T780T	p.T780T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3185	+			780			Cadherin 7.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.2340A>G	CCDS14461.1																																																																																				0.438	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		50	48	0	0	0	1	0	50	48				
MVB12A	93343	broad.mit.edu	37	19	17534318	17534318	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17534318G>A	ENST00000317040.7	+	5	1480	c.425G>A	c.(424-426)gGc>gAc	p.G142D	MVB12A_ENST00000543795.1_Missense_Mutation_p.G142D|MVB12A_ENST00000529939.1_Missense_Mutation_p.G142D|MVB12A_ENST00000392702.2_Intron|CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000528515.1_Missense_Mutation_p.A100T			Q96EY5	MB12A_HUMAN	multivesicular body subunit 12A	142	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|vesicle (GO:0031982)	lipid binding (GO:0008289)|ubiquitin binding (GO:0043130)										GACATGGGCGGCTTTGCCATC	0.687																																						ENST00000317040.7																			0											c.(424-426)gGc>gAc		multivesicular body subunit 12A							45.0	50.0	48.0					19																	17534318		2203	4300	6503	SO:0001583	missense	93343							g.chr19:17534318G>A	BC011840	CCDS12359.1	19p13.11	2013-10-11	2012-12-03	2012-12-03	ENSG00000141971	ENSG00000141971			25153	protein-coding gene	gene with protein product			"""family with sequence similarity 125, member A"""	FAM125A		18005716, 20654576, 22232651	Standard	NM_138401		Approved	FLJ32495	uc002ngo.1	Q96EY5	OTTHUMG00000166252	ENST00000317040.7:c.425G>A	19.37:g.17534318G>A	ENSP00000324810:p.Gly142Asp					MVB12A_ENST00000528515.1_Missense_Mutation_p.A100T|MVB12A_ENST00000529939.1_Missense_Mutation_p.G142D|MVB12A_ENST00000543795.1_Missense_Mutation_p.G142D|MVB12A_ENST00000392702.2_Intron	p.G142D							5	1480	+								Q96I18	Missense_Mutation	SNP	ENST00000317040.7	37	c.425G>A	CCDS12359.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	21.2|21.2	4.110754|4.110754	0.77210|0.77210	.|.	.|.	ENSG00000141971|ENSG00000141971	ENST00000528515|ENST00000528911;ENST00000528604;ENST00000317040;ENST00000529939;ENST00000543795	.|T;T;T;T;T	.|0.55413	.|0.52;0.52;0.52;0.52;0.52	4.82|4.82	4.82|4.82	0.62117|0.62117	.|MABP domain (1);	.|0.048359	.|0.85682	.|D	.|0.000000	T|T	0.68201|0.68201	0.2975|0.2975	M|M	0.63843|0.63843	1.955|1.955	0.45662|0.45662	D|D	0.998586|0.998586	.|D	.|0.89917	.|1.0	.|D	.|0.78314	.|0.991	T|T	0.70044|0.70044	-0.4980|-0.4980	6|10	0.09843|0.54805	T|T	0.71|0.06	-3.2248|-3.2248	13.4651|13.4651	0.61249|0.61249	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|142	.|Q96EY5	.|F125A_HUMAN	T|D	100|50;3;142;142;142	.|ENSP00000433280:G50D;ENSP00000435052:G3D;ENSP00000324810:G142D;ENSP00000432526:G142D;ENSP00000444653:G142D	ENSP00000433677:A100T|ENSP00000324810:G142D	A|G	+|+	1|2	0|0	FAM125A|FAM125A	17395318|17395318	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	5.203000|5.203000	0.65174|0.65174	2.245000|2.245000	0.73994|0.73994	0.558000|0.558000	0.71614|0.71614	GCT|GGC		0.687	MVB12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388723.2	NM_138401		25	98	0	0	0	1	0	25	98				
GGTLC1	92086	broad.mit.edu	37	20	23966824	23966824	+	Missense_Mutation	SNP	G	G	A	rs369309954		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:23966824G>A	ENST00000335694.4	-	3	397	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	GGTLC1_ENST00000278765.4_Missense_Mutation_p.R65C|GGTLC1_ENST00000286890.4_Missense_Mutation_p.R65C	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	65					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.R65C(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						ACTGGGGAGCGCACCTTGGAG	0.572													.|||	1	0.000199681	0.0008	0.0	5008	,	,		14114	0.0		0.0	False		,,,				2504	0.0					ENST00000335694.4																			2	Substitution - Missense(2)	p.R65C(2)	large_intestine(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(193-195)Cgc>Tgc		gamma-glutamyltransferase light chain 1		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	86.0	91.0	90.0		193,193	0.8	0.0	20		90	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	GGTLC1	NM_178311.2,NM_178312.2	180,180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	65/226,65/226	23966824	2,13004	2203	4300	6503	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23966824G>A	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.193C>T	20.37:g.23966824G>A	ENSP00000337587:p.Arg65Cys					GGTLC1_ENST00000286890.4_Missense_Mutation_p.R65C|GGTLC1_ENST00000278765.4_Missense_Mutation_p.R65C	p.R65C	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN			3	397	-			65					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.193C>T	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	g	5.681	0.310245	0.10733	0.0	2.33E-4	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.06449	3.3;3.3;3.3	0.844	0.844	0.18943	.	0.393001	0.26598	N	0.023490	T	0.08447	0.0210	M	0.80746	2.51	0.31237	N	0.695648	B	0.22480	0.07	B	0.20955	0.032	T	0.04930	-1.0917	10	0.46703	T	0.11	-19.0395	4.3059	0.10947	1.0E-4:0.0:0.6173:0.3826	.	65	Q9BX51	GGTL1_HUMAN	C	65	ENSP00000286890:R65C;ENSP00000278765:R65C;ENSP00000337587:R65C	ENSP00000278765:R65C	R	-	1	0	GGTLC1	23914824	0.731000	0.28111	0.024000	0.17045	0.024000	0.10985	1.350000	0.34010	0.088000	0.17205	0.089000	0.15464	CGC		0.572	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		31	88	0	0	0	1	0	31	88				
PLCH1	23007	broad.mit.edu	37	3	155206586	155206586	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:155206586G>A	ENST00000340059.7	-	19	2365	c.2366C>T	c.(2365-2367)cCt>cTt	p.P789L	PLCH1_ENST00000414191.1_Missense_Mutation_p.P771L|PLCH1_ENST00000447496.2_Missense_Mutation_p.P789L|PLCH1_ENST00000334686.6_Missense_Mutation_p.P771L|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000494598.1_Missense_Mutation_p.P789L|PLCH1_ENST00000460012.1_Missense_Mutation_p.P771L	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	789	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTCCCACACAGGGTTAAATCC	0.423																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(2311-2313)cCt>cTt		phospholipase C, eta 1							91.0	86.0	88.0					3																	155206586		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155206586G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2366C>T	3.37:g.155206586G>A	ENSP00000345988:p.Pro789Leu					PLCH1_ENST00000494598.1_Missense_Mutation_p.P789L|PLCH1_ENST00000447496.2_Missense_Mutation_p.P789L|PLCH1_ENST00000414191.1_Missense_Mutation_p.P771L|PLCH1_ENST00000334686.6_Missense_Mutation_p.P771L|PLCH1_ENST00000340059.7_Missense_Mutation_p.P789L	p.P771L			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		20	2669	-			789			C2.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.2312C>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140394	0.94560	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.69	5.69	0.88448	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.89983	0.6873	H	0.99794	4.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94400	0.7622	10	0.87932	D	0	.	19.8307	0.96634	0.0:0.0:1.0:0.0	.	771;789;789	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	L	789;771;789;789;771;771	ENSP00000419100:P789L;ENSP00000417502:P771L;ENSP00000402759:P789L;ENSP00000345988:P789L;ENSP00000335469:P771L;ENSP00000412977:P771L	ENSP00000335469:P771L	P	-	2	0	PLCH1	156689280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.338000	0.96553	2.678000	0.91216	0.655000	0.94253	CCT		0.423	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		7	54	0	0	0	1	0	7	54				
ZNF823	55552	broad.mit.edu	37	19	11832719	11832719	+	Nonsense_Mutation	SNP	G	G	A	rs537243329		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11832719G>A	ENST00000341191.6	-	4	1783	c.1630C>T	c.(1630-1632)Cga>Tga	p.R544*	ZNF823_ENST00000545749.1_Nonsense_Mutation_p.R362*	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	544					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)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CTTTCATGTCGTAGAAGGCAA	0.408										HNSCC(68;0.2)																												ENST00000341191.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						c.(1630-1632)Cga>Tga		zinc finger protein 823							74.0	75.0	75.0					19																	11832719		2202	4299	6501	SO:0001587	stop_gained	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11832719G>A	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1630C>T	19.37:g.11832719G>A	ENSP00000340683:p.Arg544*	HNSCC(68;0.2)				ZNF823_ENST00000545749.1_Nonsense_Mutation_p.R362*	p.R544*	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN			4	1783	-			544					A0PJL4|B7Z8D4|Q6P4A9	Nonsense_Mutation	SNP	ENST00000341191.6	37	c.1630C>T	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	-	39	7.377021	0.98245	.	.	ENSG00000197933	ENST00000545749;ENST00000341191	.	.	.	0.856	-0.251	0.13003	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	3.654	0.08214	0.0:0.1957:0.5113:0.293	.	.	.	.	X	362;544	.	ENSP00000340683:R544X	R	-	1	2	ZNF823	11693719	0.000000	0.05858	0.000000	0.03702	0.772000	0.43724	-7.304000	0.00039	-0.157000	0.11059	-0.860000	0.03012	CGA		0.408	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		16	72	0	0	0	1	0	16	72				
PLA2G4F	255189	broad.mit.edu	37	15	42439479	42439479	+	Missense_Mutation	SNP	C	C	T	rs200021326		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:42439479C>T	ENST00000382396.4	-	13	1348	c.1262G>A	c.(1261-1263)cGt>cAt	p.R421H	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.R423H			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	421	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AACCTGGGCACGCTCAATGGG	0.632																																						ENST00000397272.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1267-1269)cGt>cAt		phospholipase A2, group IVF							62.0	58.0	59.0					15																	42439479		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42439479C>T		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1262G>A	15.37:g.42439479C>T	ENSP00000371833:p.Arg421His					PLA2G4F_ENST00000382396.4_Missense_Mutation_p.R421H	p.R423H	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	13	1359	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	421			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.1268G>A	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	7.393	0.631199	0.14322	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.04194	3.68;3.68	5.35	-1.71	0.08133	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.799287	0.11075	N	0.602498	T	0.02455	0.0075	N	0.04148	-0.265	0.09310	N	1	B;B	0.18863	0.031;0.031	B;B	0.14578	0.011;0.008	T	0.44174	-0.9345	10	0.44086	T	0.13	0.9607	10.2827	0.43550	0.0:0.4485:0.0:0.5515	.	208;421	A2RRC4;Q68DD2	.;PA24F_HUMAN	H	417;423;421;421;421	ENSP00000380442:R423H;ENSP00000371833:R421H	ENSP00000290497:R417H	R	-	2	0	PLA2G4F	40226771	0.000000	0.05858	0.001000	0.08648	0.282000	0.26991	-2.088000	0.01359	-0.246000	0.09611	-0.997000	0.02515	CGT		0.632	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		10	52	0	0	0	1	0	10	52				
NFKB2	4791	broad.mit.edu	37	10	104159907	104159907	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:104159907G>A	ENST00000369966.3	+	15	1790	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T	NFKB2_ENST00000189444.6_Missense_Mutation_p.A514T|NFKB2_ENST00000428099.1_Missense_Mutation_p.A514T	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	514					extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	CATCCACCACGCCCAGGACCT	0.632			T	IGH@	B-NHL																																	ENST00000369966.3				Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23						c.(1540-1542)Gcc>Acc		nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)							86.0	92.0	90.0					10																	104159907		2141	4224	6365	SO:0001583	missense	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104159907G>A	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.1540G>A	10.37:g.104159907G>A	ENSP00000358983:p.Ala514Thr					NFKB2_ENST00000189444.6_Missense_Mutation_p.A514T|NFKB2_ENST00000428099.1_Missense_Mutation_p.A514T	p.A514T	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	15	1790	+		Colorectal(252;0.00957)	514					A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	c.1540G>A	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638062	0.47153	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.35973	1.28;1.28;1.28	4.44	4.44	0.53790	Ankyrin repeat-containing domain (3);	0.162215	0.53938	D	0.000044	T	0.22820	0.0551	L	0.44542	1.39	0.27912	N	0.938582	P;P	0.47962	0.903;0.903	B;B	0.35413	0.202;0.202	T	0.19976	-1.0289	10	0.30854	T	0.27	.	6.8865	0.24206	0.1894:0.0:0.8106:0.0	.	514;514	Q00653;A8K9D9	NFKB2_HUMAN;.	T	514	ENSP00000410256:A514T;ENSP00000358983:A514T;ENSP00000189444:A514T	ENSP00000189444:A514T	A	+	1	0	NFKB2	104149897	1.000000	0.71417	0.985000	0.45067	0.850000	0.48378	4.219000	0.58561	2.474000	0.83562	0.511000	0.50034	GCC		0.632	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			34	75	0	0	0	1	0	34	75				
VWCE	220001	broad.mit.edu	37	11	61026740	61026740	+	Missense_Mutation	SNP	C	C	T	rs548971972		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:61026740C>T	ENST00000335613.5	-	20	2661	c.2275G>A	c.(2275-2277)Gga>Aga	p.G759R	VWCE_ENST00000535710.1_Missense_Mutation_p.G224R	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	759						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCCACATTTCCGTGAGGGGAG	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20097	0.0		0.0	False		,,,				2504	0.0					ENST00000335613.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2275-2277)Gga>Aga		von Willebrand factor C and EGF domains							47.0	50.0	49.0					11																	61026740		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61026740C>T	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2275G>A	11.37:g.61026740C>T	ENSP00000334186:p.Gly759Arg					VWCE_ENST00000535710.1_Missense_Mutation_p.G224R	p.G759R	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN			20	2661	-			759					A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.2275G>A	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	7.688	0.690541	0.15039	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.69175	-0.38;3.45	3.96	2.06	0.26882	.	0.390404	0.18883	N	0.128508	T	0.37128	0.0992	N	0.11201	0.11	0.09310	N	0.999993	B	0.06786	0.001	B	0.04013	0.001	T	0.19484	-1.0304	10	0.07175	T	0.84	.	5.6133	0.17418	0.0:0.7531:0.0:0.2469	.	759	Q96DN2	VWCE_HUMAN	R	759;224	ENSP00000334186:G759R;ENSP00000442570:G224R	ENSP00000334186:G759R	G	-	1	0	VWCE	60783316	0.000000	0.05858	0.084000	0.20598	0.007000	0.05969	0.067000	0.14510	0.946000	0.37632	-0.137000	0.14449	GGA		0.582	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		22	61	0	0	0	1	0	22	61				
U2AF2	11338	broad.mit.edu	37	19	56185344	56185344	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:56185344G>A	ENST00000308924.4	+	12	1378	c.1338G>A	c.(1336-1338)atG>atA	p.M446I	U2AF2_ENST00000450554.2_Missense_Mutation_p.M442I|EPN1_ENST00000270460.6_5'Flank|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.M278I|EPN1_ENST00000085079.7_5'Flank|CTD-2537I9.13_ENST00000592252.1_RNA|EPN1_ENST00000411543.2_5'Flank|CTD-2537I9.12_ENST00000585940.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	446	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AGAAAGCCATGCAGGGCCTGA	0.562																																						ENST00000450554.2																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21						c.(1324-1326)atG>atA		U2 small nuclear RNA auxiliary factor 2							92.0	86.0	88.0					19																	56185344		2203	4300	6503	SO:0001583	missense	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56185344G>A	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.1338G>A	19.37:g.56185344G>A	ENSP00000307863:p.Met446Ile					CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.M278I|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000308924.4_Missense_Mutation_p.M446I	p.M442I	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	12	2285	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	446			RRM 3.		Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	c.1326G>A	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203702	0.79127	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.12672	2.66;2.66	4.5	4.5	0.54988	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.11324	0.0276	N	0.05510	-0.035	0.80722	D	1	B;B	0.29805	0.257;0.233	B;B	0.41466	0.358;0.165	T	0.38866	-0.9641	10	0.19590	T	0.45	-31.4421	16.3347	0.83053	0.0:0.0:1.0:0.0	.	446;442	P26368;P26368-2	U2AF2_HUMAN;.	I	446;442	ENSP00000307863:M446I;ENSP00000388475:M442I	ENSP00000307863:M446I	M	+	3	0	U2AF2	60877156	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.751000	0.91628	2.220000	0.72140	0.423000	0.28283	ATG		0.562	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		28	117	0	0	0	1	0	28	117				
BDP1	55814	broad.mit.edu	37	5	70852717	70852717	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:70852717A>G	ENST00000358731.4	+	36	7468	c.7205A>G	c.(7204-7206)cAc>cGc	p.H2402R	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2402					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		aaataGGTGCACTCAAAGGAA	0.234																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(7204-7206)cAc>cGc		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							65.0	60.0	61.0					5																	70852717		1784	4062	5846	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70852717A>G	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7205A>G	5.37:g.70852717A>G	ENSP00000351575:p.His2402Arg					BDP1_ENST00000380675.2_3'UTR	p.H2402R	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	36	7468	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2402					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.7205A>G	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	A	7.838	0.721316	0.15372	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.03831	3.79	4.08	3.14	0.36123	.	0.221095	0.32578	N	0.005906	T	0.03915	0.0110	L	0.34521	1.04	0.80722	D	1	B	0.30455	0.28	B	0.31495	0.131	T	0.50558	-0.8814	10	0.24483	T	0.36	.	6.4273	0.21776	0.1462:0.0:0.8538:0.0	.	2402	A6H8Y1	BDP1_HUMAN	R	2402;1950	ENSP00000351575:H2402R	ENSP00000351575:H2402R	H	+	2	0	BDP1	70888473	0.993000	0.37304	0.999000	0.59377	0.468000	0.32798	0.293000	0.19029	1.188000	0.43014	0.383000	0.25322	CAC		0.234	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		6	26	0	0	0	1	0	6	26				
DGKA	1606	broad.mit.edu	37	12	56334470	56334470	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56334470C>T	ENST00000331886.5	+	12	1435	c.981C>T	c.(979-981)caC>caT	p.H327H	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Silent_p.H327H|DGKA_ENST00000551156.1_Silent_p.H327H	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	327					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCCGGGATCACATCCTGCCTC	0.602											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(979-981)caC>caT		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						136.0	128.0	130.0					12																	56334470		2203	4300	6503	SO:0001819	synonymous_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56334470C>T	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.981C>T	12.37:g.56334470C>T			OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	DGKA_ENST00000394147.1_Silent_p.H327H|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Silent_p.H327H	p.H327H	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			12	1435	+			327					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Silent	SNP	ENST00000331886.5	37	c.981C>T	CCDS8896.1																																																																																				0.602	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			30	119	0	0	0	1	0	30	119				
MAPKAPK3	7867	broad.mit.edu	37	3	50681875	50681875	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:50681875C>T	ENST00000446044.1	+	8	1136	c.540C>T	c.(538-540)gaC>gaT	p.D180D	MAPKAPK3_ENST00000357955.2_Silent_p.D180D	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGGAGAAAGACGCAGTGCTTA	0.502																																						ENST00000446044.1																			0				central_nervous_system(1)|ovary(1)	2						c.(538-540)gaC>gaT		mitogen-activated protein kinase-activated protein kinase 3							132.0	121.0	125.0					3																	50681875		2203	4300	6503	SO:0001819	synonymous_variant	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50681875C>T	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.540C>T	3.37:g.50681875C>T						MAPKAPK3_ENST00000357955.2_Silent_p.D180D	p.D180D	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	8	1136	+			180			Protein kinase.		B5BU67	Silent	SNP	ENST00000446044.1	37	c.540C>T	CCDS2832.1																																																																																				0.502	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		29	95	0	0	0	1	0	29	95				
MARCH5	54708	broad.mit.edu	37	10	94109493	94109493	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:94109493A>G	ENST00000358935.2	+	5	951	c.619A>G	c.(619-621)Act>Gct	p.T207A	MARCH5_ENST00000467521.2_3'UTR	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	207					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TGTCTCTGCTACTCGAATCTT	0.403																																						ENST00000358935.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(619-621)Act>Gct		membrane-associated ring finger (C3HC4) 5							252.0	243.0	246.0					10																	94109493		2203	4300	6503	SO:0001583	missense	54708				cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr10:94109493A>G	BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26025	protein-coding gene	gene with protein product		610637	"""ring finger protein 153"""	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.619A>G	10.37:g.94109493A>G	ENSP00000351813:p.Thr207Ala					MARCH5_ENST00000467521.2_3'UTR	p.T207A	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN			5	951	+			207						Missense_Mutation	SNP	ENST00000358935.2	37	c.619A>G	CCDS7420.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.645925	0.67358	.	.	ENSG00000198060	ENST00000358935	T	0.49720	0.77	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	L	0.48642	1.525	0.80722	D	1	B	0.25048	0.117	B	0.27500	0.08	T	0.31916	-0.9926	10	0.41790	T	0.15	-8.1254	16.5446	0.84426	1.0:0.0:0.0:0.0	.	207	Q9NX47	MARH5_HUMAN	A	207	ENSP00000351813:T207A	ENSP00000351813:T207A	T	+	1	0	MARCH5	94099473	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.102000	0.94226	2.311000	0.77944	0.533000	0.62120	ACT		0.403	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049388.1	NM_017824		10	292	0	0	0	1	0	10	292				
TREX1	11277	broad.mit.edu	37	3	48508760	48508760	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:48508760A>G	ENST00000422277.2	+	1	1532	c.871A>G	c.(871-873)Aca>Gca	p.T291A	TREX1_ENST00000492235.1_3'UTR|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000436480.2_Missense_Mutation_p.T236A|TREX1_ENST00000433541.1_Missense_Mutation_p.T97A|TREX1_ENST00000296443.9_Missense_Mutation_p.T236A|TREX1_ENST00000444177.1_Missense_Mutation_p.T226A|TREX1_ENST00000456089.1_Missense_Mutation_p.T97A	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	291	Necessary for endoplasmic reticulum localization. {ECO:0000250}.				cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTATGGGGTCACAGCCTCTGC	0.617																																						ENST00000296443.9																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9	GRCh37	CI075712	TREX1	I		c.(706-708)Aca>Gca		three prime repair exonuclease 1							97.0	83.0	88.0					3																	48508760		2203	4300	6503	SO:0001583	missense	11277				cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48508760A>G	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"""Aicardi-Goutieres syndrome 1"""	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.871A>G	3.37:g.48508760A>G	ENSP00000390478:p.Thr291Ala					TREX1_ENST00000456089.1_Missense_Mutation_p.T97A|TREX1_ENST00000422277.2_Missense_Mutation_p.T291A|TREX1_ENST00000444177.1_Missense_Mutation_p.T226A|TREX1_ENST00000436480.2_Missense_Mutation_p.T236A|TREX1_ENST00000433541.1_Missense_Mutation_p.T97A|TREX1_ENST00000492235.1_3'UTR	p.T236A			Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	1593	+			291					B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Missense_Mutation	SNP	ENST00000422277.2	37	c.706A>G	CCDS43086.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.031377	0.54790	.	.	ENSG00000213689	ENST00000296443;ENST00000433541;ENST00000436480;ENST00000422277;ENST00000444177;ENST00000456089	T;T;T;T;T;T	0.44083	1.55;0.93;1.55;1.51;1.55;0.93	5.1	-6.21	0.02065	.	.	.	.	.	T	0.22551	0.0544	L	0.33485	1.01	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.34329	-0.9833	9	0.10377	T	0.69	.	6.7824	0.23654	0.2855:0.3313:0.3832:0.0	.	291	Q9NSU2	TREX1_HUMAN	A	236;97;236;291;226;97	ENSP00000296443:T236A;ENSP00000412404:T97A;ENSP00000392569:T236A;ENSP00000390478:T291A;ENSP00000415972:T226A;ENSP00000411331:T97A	ENSP00000296443:T236A	T	+	1	0	TREX1	48483764	0.000000	0.05858	0.000000	0.03702	0.852000	0.48524	-0.417000	0.07088	-1.057000	0.03201	0.459000	0.35465	ACA		0.617	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		29	95	0	0	0	1	0	29	95				
ARSA	410	broad.mit.edu	37	22	51064693	51064693	+	Missense_Mutation	SNP	G	G	A	rs74315473		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:51064693G>A	ENST00000547307.1	-	5	1267	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	ARSA_ENST00000395621.3_Missense_Mutation_p.R290C|ARSA_ENST00000547805.1_Missense_Mutation_p.R288C|ARSA_ENST00000610191.1_5'Flank|ARSA_ENST00000356098.5_Missense_Mutation_p.R290C|ARSA_ENST00000216124.5_Missense_Mutation_p.R290C|ARSA_ENST00000395619.3_Missense_Mutation_p.R290C|ARSA_ENST00000453344.2_Missense_Mutation_p.R204C			P15289	ARSA_HUMAN	arylsulfatase A	288			R -> C (in MLD; dbSNP:rs74315473). {ECO:0000269|PubMed:20339381}.|R -> H (in MLD; adult form; dbSNP:rs199476355). {ECO:0000269|PubMed:10477432}.		autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	CGGGACATACGCATGGTCTCA	0.637																																						ENST00000547307.1																			0				endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9	GRCh37	CM940106	ARSA	M	rs74315473	c.(862-864)Cgt>Tgt		arylsulfatase A	Micafungin(DB01141)						45.0	40.0	42.0					22																	51064693		2203	4300	6503	SO:0001583	missense	410					lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	g.chr22:51064693G>A	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.862C>T	22.37:g.51064693G>A	ENSP00000448440:p.Arg288Cys					ARSA_ENST00000547805.1_Missense_Mutation_p.R288C|ARSA_ENST00000395619.3_Missense_Mutation_p.R290C|ARSA_ENST00000395621.3_Missense_Mutation_p.R290C|ARSA_ENST00000216124.5_Missense_Mutation_p.R290C|ARSA_ENST00000356098.5_Missense_Mutation_p.R290C|ARSA_ENST00000453344.2_Missense_Mutation_p.R204C	p.R288C			P15289	ARSA_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	5	1267	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	288		R -> C (in MLD).|R -> H (in MLD; adult form).			B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	ENST00000547307.1	37	c.862C>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.065340	0.76187	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04	5.21	4.19	0.49359	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	D	0.000001	D	0.98833	0.9606	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.98735	1.0714	10	0.38643	T	0.18	.	12.6729	0.56876	0.0:0.0:0.8235:0.1765	.	288	P15289	ARSA_HUMAN	C	290;290;288;288;290;204;290	ENSP00000348406:R290C;ENSP00000216124:R290C;ENSP00000448440:R288C;ENSP00000448932:R288C;ENSP00000378983:R290C;ENSP00000412542:R204C;ENSP00000378981:R290C	ENSP00000216124:R290C	R	-	1	0	ARSA	49411559	1.000000	0.71417	0.994000	0.49952	0.956000	0.61745	5.369000	0.66138	1.154000	0.42482	0.609000	0.83330	CGT		0.637	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		13	23	0	0	0	1	0	13	23				
HSDL1	83693	broad.mit.edu	37	16	84163829	84163829	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:84163829T>C	ENST00000219439.4	-	4	604	c.428A>G	c.(427-429)aAa>aGa	p.K143R	HSDL1_ENST00000434463.3_Intron	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	143						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						GCCAACGTCTTTGTCCTTCAG	0.473																																						ENST00000219439.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(427-429)aAa>aGa		hydroxysteroid dehydrogenase like 1							149.0	133.0	138.0					16																	84163829		2200	4300	6500	SO:0001583	missense	83693					mitochondrion	oxidoreductase activity|protein binding	g.chr16:84163829T>C	AF237684	CCDS10942.1, CCDS54046.1	16q24	2011-09-20			ENSG00000103160	ENSG00000103160		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	16475	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 3"""					12153137, 19027726	Standard	NM_031463		Approved	SDR12C3	uc002fhk.2	Q3SXM5	OTTHUMG00000137635	ENST00000219439.4:c.428A>G	16.37:g.84163829T>C	ENSP00000219439:p.Lys143Arg					HSDL1_ENST00000434463.3_Intron	p.K143R	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN			4	604	-			143					B4DSL2|D3DUL4|Q3SXM4|Q8NC98|Q9BY22	Missense_Mutation	SNP	ENST00000219439.4	37	c.428A>G	CCDS10942.1	.	.	.	.	.	.	.	.	.	.	T	5.287	0.238283	0.10023	.	.	ENSG00000103160	ENST00000219439	T	0.51325	0.71	5.25	-8.57	0.00900	NAD(P)-binding domain (1);	0.651055	0.17971	N	0.155879	T	0.24699	0.0599	N	0.17082	0.46	0.54753	D	0.999988	B	0.02656	0.0	B	0.12837	0.008	T	0.02933	-1.1092	10	0.32370	T	0.25	-6.6709	13.6886	0.62531	0.0843:0.1842:0.0:0.7315	.	143	Q3SXM5	HSDL1_HUMAN	R	143	ENSP00000219439:K143R	ENSP00000219439:K143R	K	-	2	0	HSDL1	82721330	0.943000	0.32029	0.528000	0.27938	0.233000	0.25261	0.075000	0.14686	-1.578000	0.01648	-1.676000	0.00740	AAA		0.473	HSDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269076.3	NM_031463		5	198	0	0	0	1	0	5	198				
CCDC151	115948	broad.mit.edu	37	19	11532352	11532352	+	Missense_Mutation	SNP	T	T	C	rs375632703		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11532352T>C	ENST00000356392.4	-	11	1670	c.1583A>G	c.(1582-1584)aAc>aGc	p.N528S	CCDC151_ENST00000586836.1_Missense_Mutation_p.N337S|RGL3_ENST00000393423.3_5'Flank|RGL3_ENST00000380456.3_5'Flank|CCDC151_ENST00000545100.1_Missense_Mutation_p.N474S|CCDC151_ENST00000591179.1_Missense_Mutation_p.N468S	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	528										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CACCTCGCGGTTAGCGATGTG	0.617																																						ENST00000356392.4																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						c.(1582-1584)aAc>aGc		coiled-coil domain containing 151							87.0	91.0	90.0					19																	11532352		2012	4161	6173	SO:0001583	missense	115948							g.chr19:11532352T>C		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.1583A>G	19.37:g.11532352T>C	ENSP00000348757:p.Asn528Ser					CCDC151_ENST00000586836.1_Missense_Mutation_p.N337S|CCDC151_ENST00000545100.1_Missense_Mutation_p.N474S|CCDC151_ENST00000591179.1_Missense_Mutation_p.N468S	p.N528S	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN			11	1670	-			528					B4DXT0|Q96CG5	Missense_Mutation	SNP	ENST00000356392.4	37	c.1583A>G	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.602619	0.28534	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	T;T	0.12984	2.63;2.86	4.15	3.14	0.36123	.	0.271193	0.33496	N	0.004845	T	0.05410	0.0143	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.08055	0.003;0.003;0.003	T	0.42120	-0.9470	10	0.12103	T	0.63	-10.4229	6.0229	0.19638	0.0:0.1186:0.0:0.8814	.	528;528;508	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	S	474;528;507	ENSP00000442987:N474S;ENSP00000348757:N528S	ENSP00000348757:N528S	N	-	2	0	CCDC151	11393352	0.001000	0.12720	0.026000	0.17262	0.332000	0.28634	0.861000	0.27885	0.660000	0.30964	0.459000	0.35465	AAC		0.617	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		52	165	0	0	0	1	0	52	165				
KHK	3795	broad.mit.edu	37	2	27322364	27322364	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:27322364G>A	ENST00000260599.6	+	7	1243	c.730G>A	c.(730-732)Gct>Act	p.A244T	KHK_ENST00000260598.5_Missense_Mutation_p.A244T|CGREF1_ENST00000402550.1_3'UTR|CGREF1_ENST00000452318.2_3'UTR|KHK_ENST00000490823.1_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	244					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACTCGGATGCTTTCCCGCC	0.632																																						ENST00000260599.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(730-732)Gct>Act		ketohexokinase (fructokinase)							81.0	83.0	82.0					2																	27322364		2203	4300	6503	SO:0001583	missense	3795				fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding	g.chr2:27322364G>A		CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.730G>A	2.37:g.27322364G>A	ENSP00000260599:p.Ala244Thr					CGREF1_ENST00000402550.1_3'UTR|CGREF1_ENST00000452318.2_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.A244T|KHK_ENST00000490823.1_3'UTR	p.A244T	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN			7	1243	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		244					Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	c.730G>A	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138305	0.77775	.	.	ENSG00000138030	ENST00000260599;ENST00000260598	T;T	0.77750	-1.12;-1.12	5.29	5.29	0.74685	Carbohydrate/purine kinase (1);	0.000000	0.85682	D	0.000000	D	0.84763	0.5544	M	0.83774	2.66	0.80722	D	1	D;P;P;P	0.63880	0.993;0.925;0.779;0.925	P;B;B;B	0.52066	0.689;0.375;0.366;0.375	D	0.86034	0.1515	10	0.45353	T	0.12	-8.9041	16.4334	0.83861	0.0:0.0:1.0:0.0	.	244;244;244;244	Q53G56;Q6IBK2;P50053-2;P50053	.;.;.;KHK_HUMAN	T	244	ENSP00000260599:A244T;ENSP00000260598:A244T	ENSP00000260598:A244T	A	+	1	0	KHK	27175868	1.000000	0.71417	0.966000	0.40874	0.507000	0.33981	9.466000	0.97665	2.469000	0.83416	0.555000	0.69702	GCT		0.632	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			34	93	0	0	0	1	0	34	93				
LOXL4	84171	broad.mit.edu	37	10	100013338	100013338	+	Missense_Mutation	SNP	C	C	A	rs372106198		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:100013338C>A	ENST00000260702.3	-	11	1957	c.1807G>T	c.(1807-1809)Gat>Tat	p.D603Y	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	603	Lysyl-oxidase like.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		ACCCAGCTATCGCGTCCAGTC	0.567																																						ENST00000260702.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26						c.(1807-1809)Gat>Tat		lysyl oxidase-like 4							79.0	71.0	73.0					10																	100013338		2203	4300	6503	SO:0001583	missense	84171					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	g.chr10:100013338C>A	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1807G>T	10.37:g.100013338C>A	ENSP00000260702:p.Asp603Tyr					RP11-34A14.3_ENST00000433374.1_RNA	p.D603Y	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)	11	1957	-		Colorectal(252;0.234)	603			Lysyl-oxidase like.		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	ENST00000260702.3	37	c.1807G>T	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291608	0.40494	.	.	ENSG00000138131	ENST00000260702	T	0.28895	1.59	4.88	3.97	0.46021	.	0.236753	0.42548	D	0.000693	T	0.18467	0.0443	N	0.03608	-0.345	0.28938	N	0.89115	B	0.27229	0.172	B	0.34824	0.19	T	0.23476	-1.0187	10	0.59425	D	0.04	.	14.0134	0.64511	0.0:0.1601:0.8399:0.0	.	603	Q96JB6	LOXL4_HUMAN	Y	603	ENSP00000260702:D603Y	ENSP00000260702:D603Y	D	-	1	0	LOXL4	100003328	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	5.608000	0.67654	1.277000	0.44412	-0.479000	0.04858	GAT		0.567	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		11	82	1	0	9.05144e-12	1	9.41241e-12	11	82				
RYR2	6262	broad.mit.edu	37	1	237659870	237659870	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:237659870A>G	ENST00000366574.2	+	20	2338	c.2021A>G	c.(2020-2022)tAc>tGc	p.Y674C	RYR2_ENST00000360064.6_Missense_Mutation_p.Y672C|RYR2_ENST00000542537.1_Missense_Mutation_p.Y658C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	674	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGAAATGGTACTATGAATTG	0.463																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(2020-2022)tAc>tGc		ryanodine receptor 2 (cardiac)							82.0	86.0	84.0					1																	237659870		1896	4111	6007	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237659870A>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2021A>G	1.37:g.237659870A>G	ENSP00000355533:p.Tyr674Cys					RYR2_ENST00000360064.6_Missense_Mutation_p.Y672C|RYR2_ENST00000542537.1_Missense_Mutation_p.Y658C	p.Y674C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		20	2338	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	674			B30.2/SPRY 1.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2021A>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480951	0.84747	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.78924	-1.22;-1.22;-1.22	5.88	5.88	0.94601	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000016	D	0.90587	0.7049	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92566	0.6062	10	0.87932	D	0	.	16.2965	0.82776	1.0:0.0:0.0:0.0	.	674	Q92736	RYR2_HUMAN	C	674;672;658	ENSP00000355533:Y674C;ENSP00000353174:Y672C;ENSP00000443798:Y658C	ENSP00000353174:Y672C	Y	+	2	0	RYR2	235726493	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.287000	0.95975	2.243000	0.73865	0.528000	0.53228	TAC		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		28	61	0	0	0	1	0	28	61				
C1QTNF7	114905	broad.mit.edu	37	4	15437503	15437503	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:15437503C>T	ENST00000444304.2	+	2	462	c.136C>T	c.(136-138)Cct>Tct	p.P46S	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.P46S|C1QTNF7_ENST00000295297.4_Missense_Mutation_p.P53S			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	46	Collagen-like.				protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						TCCAGGGCCCCCTGGAGCAAA	0.572																																						ENST00000295297.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						c.(157-159)Cct>Tct		C1q and tumor necrosis factor related protein 7							52.0	54.0	53.0					4																	15437503		2203	4300	6503	SO:0001583	missense	114905					collagen		g.chr4:15437503C>T	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.136C>T	4.37:g.15437503C>T	ENSP00000388914:p.Pro46Ser					C1QTNF7_ENST00000429690.1_Missense_Mutation_p.P46S|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.P46S	p.P53S	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN			2	416	+			46			Collagen-like.		B2RBT3|J3KPW3	Missense_Mutation	SNP	ENST00000444304.2	37	c.157C>T	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168120	0.78339	.	.	ENSG00000163145	ENST00000397700;ENST00000295297;ENST00000382383;ENST00000429690;ENST00000444304	D;D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05;-5.05	5.54	4.68	0.58851	.	0.111193	0.64402	D	0.000008	D	0.98251	0.9421	M	0.79926	2.475	0.58432	D	0.999996	P	0.47545	0.897	P	0.45856	0.495	D	0.98139	1.0435	10	0.59425	D	0.04	.	15.8453	0.78883	0.1369:0.8631:0.0:0.0	.	46	Q9BXJ2	C1QT7_HUMAN	S	53;53;46;46;46	ENSP00000380812:P53S;ENSP00000295297:P53S;ENSP00000371820:P46S;ENSP00000410722:P46S;ENSP00000388914:P46S	ENSP00000295297:P53S	P	+	1	0	C1QTNF7	15046601	1.000000	0.71417	0.916000	0.36221	0.796000	0.44982	6.002000	0.70693	1.427000	0.47276	0.655000	0.94253	CCT		0.572	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2			20	55	0	0	0	1	0	20	55				
GPR182	11318	broad.mit.edu	37	12	57389733	57389733	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:57389733A>G	ENST00000300098.1	+	2	959	c.740A>G	c.(739-741)cAg>cGg	p.Q247R	HBCBP_ENST00000600202.1_5'Flank|RP11-474N8.5_ENST00000556850.1_RNA	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	247					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CGGCTGCGGCAGCCAGGACAA	0.647																																						ENST00000300098.1																			0				endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						c.(739-741)cAg>cGg		G protein-coupled receptor 182							33.0	33.0	33.0					12																	57389733		2203	4298	6501	SO:0001583	missense	11318					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:57389733A>G	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.740A>G	12.37:g.57389733A>G	ENSP00000300098:p.Gln247Arg						p.Q247R	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN			2	959	+			247						Missense_Mutation	SNP	ENST00000300098.1	37	c.740A>G	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.324954	0.00229	.	.	ENSG00000166856	ENST00000300098	T	0.32272	1.46	4.13	-2.47	0.06442	GPCR, rhodopsin-like superfamily (1);	1.204530	0.06256	N	0.693024	T	0.10423	0.0255	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35126	-0.9801	10	0.02654	T	1	.	9.5095	0.39067	0.5395:0.0:0.4605:0.0	.	247	O15218	GP182_HUMAN	R	247	ENSP00000300098:Q247R	ENSP00000300098:Q247R	Q	+	2	0	GPR182	55676000	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.299000	0.19138	-0.708000	0.05015	-0.366000	0.07423	CAG		0.647	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264		25	79	0	0	0	1	0	25	79				
EML5	161436	broad.mit.edu	37	14	89202827	89202827	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:89202827C>T	ENST00000380664.5	-	7	929	c.930G>A	c.(928-930)gtG>gtA	p.V310V	EML5_ENST00000352093.5_Silent_p.V310V|EML5_ENST00000554922.1_Silent_p.V310V			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	310						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTCTTTCTTGCACCACAATTT	0.403																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(928-930)gtG>gtA		echinoderm microtubule associated protein like 5							162.0	161.0	162.0					14																	89202827		1904	4108	6012	SO:0001819	synonymous_variant	161436					cytoplasm|microtubule		g.chr14:89202827C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.930G>A	14.37:g.89202827C>T						EML5_ENST00000380664.5_Silent_p.V310V|EML5_ENST00000352093.5_Silent_p.V310V	p.V310V	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			7	1178	-			310					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	c.930G>A	CCDS45148.1																																																																																				0.403	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			50	154	0	0	0	1	0	50	154				
NFIB	4781	broad.mit.edu	37	9	14150259	14150259	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:14150259T>C	ENST00000380959.3	-	5	1164	c.691A>G	c.(691-693)Ata>Gta	p.I231V	NFIB_ENST00000397575.3_Missense_Mutation_p.I231V|NFIB_ENST00000380934.4_Missense_Mutation_p.I257V|NFIB_ENST00000380953.1_Missense_Mutation_p.I231V|NFIB_ENST00000380924.1_5'UTR|NFIB_ENST00000397579.2_Missense_Mutation_p.I231V|NFIB_ENST00000397581.2_Missense_Mutation_p.I231V|NFIB_ENST00000543693.1_5'UTR	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	231					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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 transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CCCTGGGTTATGGGCGCTGAG	0.443			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"""MYB, HGMA2"""		"""adenoid cystic carcinoma, lipoma"""		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.(691-693)Ata>Gta		nuclear factor I/B							230.0	232.0	231.0					9																	14150259		2203	4300	6503	SO:0001583	missense	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14150259T>C	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.691A>G	9.37:g.14150259T>C	ENSP00000370346:p.Ile231Val					NFIB_ENST00000397581.2_Missense_Mutation_p.I231V|NFIB_ENST00000543693.1_5'UTR|NFIB_ENST00000380934.4_Missense_Mutation_p.I257V|NFIB_ENST00000397579.2_Missense_Mutation_p.I231V|NFIB_ENST00000380924.1_5'UTR|NFIB_ENST00000380953.1_Missense_Mutation_p.I231V|NFIB_ENST00000397575.3_Missense_Mutation_p.I231V	p.I231V	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	5	1164	-			231					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	c.691A>G	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	T	9.765	1.171015	0.21621	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.33089	0.0851	N	0.11064	0.09	0.45822	D	0.998697	P;B;B	0.43633	0.813;0.008;0.126	P;B;B	0.44921	0.464;0.022;0.391	T	0.10989	-1.0606	10	0.15499	T	0.54	.	15.1105	0.72351	0.0:0.0:0.0:1.0	.	231;231;231	Q5VW27;Q5VW29;O00712	.;.;NFIB_HUMAN	V	257;231;231;231;231;231	ENSP00000370321:I257V;ENSP00000370346:I231V;ENSP00000370340:I231V;ENSP00000380705:I231V;ENSP00000380711:I231V;ENSP00000380709:I231V	ENSP00000370321:I257V	I	-	1	0	NFIB	14140259	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.091000	0.76923	2.015000	0.59207	0.533000	0.62120	ATA		0.443	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		90	287	0	0	0	1	0	90	287				
DPEP3	64180	broad.mit.edu	37	16	68014034	68014034	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:68014034C>T	ENST00000268793.4	-	1	698	c.325G>A	c.(325-327)Gcg>Acg	p.A109T	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	84					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		AGGGCCTGCGCGCGACCCCGA	0.672																																						ENST00000268793.4																			0				breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20						c.(325-327)Gcg>Acg		dipeptidase 3							44.0	45.0	45.0					16																	68014034		2198	4300	6498	SO:0001583	missense	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68014034C>T	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.325G>A	16.37:g.68014034C>T	ENSP00000268793:p.Ala109Thr					DPEP3_ENST00000574342.1_5'UTR	p.A109T	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	1	698	-		Ovarian(137;0.192)	84					B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	c.325G>A	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592626	0.66219	.	.	ENSG00000141096	ENST00000268793	T	0.27256	1.68	3.96	3.01	0.34805	.	0.301172	0.30695	N	0.009068	T	0.26448	0.0646	L	0.57536	1.79	0.09310	N	1	P	0.51449	0.945	P	0.45138	0.471	T	0.11397	-1.0589	10	0.54805	T	0.06	.	7.6892	0.28559	0.0:0.8836:0.0:0.1164	.	84	Q9H4B8	DPEP3_HUMAN	T	109	ENSP00000268793:A109T	ENSP00000268793:A109T	A	-	1	0	DPEP3	66571535	0.003000	0.15002	0.001000	0.08648	0.009000	0.06853	1.154000	0.31688	1.037000	0.40024	0.561000	0.74099	GCG		0.672	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		18	67	0	0	0	1	0	18	67				
GRIN3B	116444	broad.mit.edu	37	19	1004694	1004694	+	Silent	SNP	G	G	A	rs370586596		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1004694G>A	ENST00000234389.3	+	3	1213	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P	GRIN3B_ENST00000588335.1_Intron|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	398					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACTTGGAACCGGGAGGTGCCT	0.697													a|||	1	0.000199681	0.0008	0.0	5008	,	,		11301	0.0		0.0	False		,,,				2504	0.0					ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1192-1194)ccG>ccA		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	A		0,4376		0,0,2188	18.0	18.0	18.0		1194	-8.8	0.0	19		18	1,8567		0,1,4283	no	coding-synonymous	GRIN3B	NM_138690.1		0,1,6471	AA,AG,GG		0.0117,0.0,0.0077		398/1044	1004694	1,12943	2188	4284	6472	SO:0001819	synonymous_variant	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1004694G>A		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1194G>A	19.37:g.1004694G>A						GRIN3B_ENST00000588335.1_Intron	p.P398P	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1213	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	398					Q5EAK7|Q7RTW9	Silent	SNP	ENST00000234389.3	37	c.1194G>A	CCDS32861.1																																																																																				0.697	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			4	26	0	0	0	1	0	4	26				
DNAJC1	64215	broad.mit.edu	37	10	22209773	22209773	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:22209773A>G	ENST00000376980.3	-	4	781	c.491T>C	c.(490-492)gTg>gCg	p.V164A	DNAJC1_ENST00000376946.1_3'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	164					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				ATAATGACCCACTGTGAGAAT	0.393																																						ENST00000376980.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21						c.(490-492)gTg>gCg		DnaJ (Hsp40) homolog, subfamily C, member 1							113.0	112.0	112.0					10																	22209773		2203	4300	6503	SO:0001583	missense	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22209773A>G	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.491T>C	10.37:g.22209773A>G	ENSP00000366179:p.Val164Ala					DNAJC1_ENST00000376946.1_3'UTR	p.V164A	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN			4	781	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	164					B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	37	c.491T>C	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.077468	0.76528	.	.	ENSG00000136770	ENST00000376980	T	0.38077	1.16	5.31	5.31	0.75309	.	0.055783	0.64402	N	0.000001	T	0.60064	0.2240	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.64236	-0.6455	10	0.62326	D	0.03	-7.8475	15.5555	0.76189	1.0:0.0:0.0:0.0	.	164	Q96KC8	DNJC1_HUMAN	A	164	ENSP00000366179:V164A	ENSP00000366179:V164A	V	-	2	0	DNAJC1	22249779	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.232000	0.95325	2.132000	0.65825	0.460000	0.39030	GTG		0.393	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		28	84	0	0	0	1	0	28	84				
RHOBTB2	23221	broad.mit.edu	37	8	22864404	22864404	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:22864404T>C	ENST00000251822.6	+	5	1183	c.646T>C	c.(646-648)Ttc>Ctc	p.F216L	RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.F238L|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.F223L	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	216					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCACCTGCAGTTCTGGAAGTC	0.642																																						ENST00000251822.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(646-648)Ttc>Ctc		Rho-related BTB domain containing 2							92.0	90.0	91.0					8																	22864404		2203	4300	6503	SO:0001583	missense	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22864404T>C	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.646T>C	8.37:g.22864404T>C	ENSP00000251822:p.Phe216Leu					RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.F238L|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.F223L	p.F216L	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	5	1183	+		Prostate(55;0.0513)|Breast(100;0.214)	216					A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	c.646T>C	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.595544	0.86953	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.20463	2.07;2.07;2.07	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	M	0.72479	2.2	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.998	T	0.46428	-0.9192	10	0.72032	D	0.01	.	13.7589	0.62954	0.0:0.0:0.0:1.0	.	223;216;238	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	L	238;223;216	ENSP00000427926:F238L;ENSP00000429141:F223L;ENSP00000251822:F216L	ENSP00000251822:F216L	F	+	1	0	RHOBTB2	22920349	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.254000	0.72460	1.918000	0.55548	0.460000	0.39030	TTC		0.642	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			19	194	0	0	0	1	0	19	194				
SCN10A	6336	broad.mit.edu	37	3	38739798	38739798	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:38739798A>G	ENST00000449082.2	-	27	4912	c.4913T>C	c.(4912-4914)aTc>aCc	p.I1638T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1638					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CATGTCGTCGATGCCAGCCTC	0.557																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(4912-4914)aTc>aCc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						179.0	167.0	171.0					3																	38739798		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739798A>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4913T>C	3.37:g.38739798A>G	ENSP00000390600:p.Ile1638Thr						p.I1638T	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	4912	-			1638					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.4913T>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.435483	0.62955	.	.	ENSG00000185313	ENST00000449082	D	0.98585	-5.01	5.27	5.27	0.74061	Ion transport (1);	0.053894	0.64402	D	0.000001	D	0.99077	0.9683	M	0.89534	3.04	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	D	0.99589	1.0975	10	0.87932	D	0	.	15.3582	0.74443	1.0:0.0:0.0:0.0	.	1638	Q9Y5Y9	SCNAA_HUMAN	T	1638	ENSP00000390600:I1638T	ENSP00000390600:I1638T	I	-	2	0	SCN10A	38714802	1.000000	0.71417	0.958000	0.39756	0.694000	0.40290	9.127000	0.94417	2.214000	0.71695	0.533000	0.62120	ATC		0.557	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		52	169	0	0	0	1	0	52	169				
AMT	275	broad.mit.edu	37	3	49455120	49455120	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:49455120A>G	ENST00000273588.3	-	9	1367	c.1065T>C	c.(1063-1065)tcT>tcC	p.S355S	AMT_ENST00000476226.1_5'UTR|AMT_ENST00000546031.1_Silent_p.S258S|AMT_ENST00000458307.2_Silent_p.S311S|AMT_ENST00000538581.1_Silent_p.S299S|AMT_ENST00000395338.2_Silent_p.S355S	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	355					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	TCTTCTTCAGAGAGGGGGAGG	0.592																																						ENST00000273588.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6						c.(1063-1065)tcT>tcC		aminomethyltransferase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						69.0	72.0	71.0					3																	49455120		2203	4300	6503	SO:0001819	synonymous_variant	275				glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity	g.chr3:49455120A>G	D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"""glycine cleavage system protein T"""	238310	"""aminomethyltransferase (glycine cleavage system protein T)"""			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.1065T>C	3.37:g.49455120A>G						AMT_ENST00000538581.1_Silent_p.S299S|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000546031.1_Silent_p.S258S|AMT_ENST00000458307.2_Silent_p.S311S|AMT_ENST00000395338.2_Silent_p.S355S	p.S355S	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1367	-			355					A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Silent	SNP	ENST00000273588.3	37	c.1065T>C	CCDS2797.1	.	.	.	.	.	.	.	.	.	.	A	1.164	-0.642975	0.03531	.	.	ENSG00000145020	ENST00000427987	T	0.78003	-1.14	4.75	2.92	0.33932	.	0.200311	0.53938	D	0.000050	T	0.78509	0.4294	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77172	-0.2685	7	0.66056	D	0.02	-2.4727	5.5875	0.17283	0.3327:0.0:0.6673:0.0	.	.	.	.	P	353	ENSP00000403821:S353P	ENSP00000403821:S353P	S	-	1	0	AMT	49430124	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	2.811000	0.47986	0.981000	0.38548	-0.468000	0.05107	TCT		0.592	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346216.2	NM_000481		42	143	0	0	0	1	0	42	143				
TACC2	10579	broad.mit.edu	37	10	123847263	123847263	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:123847263G>A	ENST00000369005.1	+	4	5588	c.5248G>A	c.(5248-5250)Gcc>Acc	p.A1750T	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A1750T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A1750T|TACC2_ENST00000515273.1_Missense_Mutation_p.A1750T|TACC2_ENST00000334433.3_Missense_Mutation_p.A1750T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1750					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCAGGACCCAGCCTGCTCTGA	0.632																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(5248-5250)Gcc>Acc		transforming, acidic coiled-coil containing protein 2							36.0	30.0	32.0					10																	123847263		2203	4299	6502	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123847263G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.5248G>A	10.37:g.123847263G>A	ENSP00000358001:p.Ala1750Thr					TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.A1750T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A1750T|TACC2_ENST00000453444.2_Missense_Mutation_p.A1750T|TACC2_ENST00000515273.1_Missense_Mutation_p.A1750T	p.A1750T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	5588	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1750					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.5248G>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075056	0.36566	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.02974	4.1;4.09;4.09;4.1;4.09	5.18	3.26	0.37387	.	0.481828	0.15616	N	0.253139	T	0.02047	0.0064	N	0.14661	0.345	0.09310	N	1	B;B;B	0.22003	0.063;0.063;0.063	B;B;B	0.19666	0.026;0.026;0.026	T	0.45716	-0.9242	10	0.87932	D	0	-0.1588	4.8257	0.13414	0.1781:0.0:0.6508:0.1711	.	1750;1750;1750	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	T	1750;1750;1750;1750;1750;1740	ENSP00000358001:A1750T;ENSP00000424467:A1750T;ENSP00000427618:A1750T;ENSP00000334280:A1750T;ENSP00000395048:A1750T	ENSP00000334280:A1750T	A	+	1	0	TACC2	123837253	0.059000	0.20769	0.006000	0.13384	0.048000	0.14542	1.056000	0.30480	0.529000	0.28599	0.643000	0.83706	GCC		0.632	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			12	20	0	0	0	1	0	12	20				
NKAIN3	286183	broad.mit.edu	37	8	63659497	63659497	+	Missense_Mutation	SNP	G	G	A	rs201185620		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:63659497G>A	ENST00000523211.1	+	4	412	c.280G>A	c.(280-282)Gat>Aat	p.D94N	NKAIN3_ENST00000328472.5_Missense_Mutation_p.D94N|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				CTAGGACACCGATCTAATGAC	0.448																																						ENST00000523211.1																			0				kidney(3)|large_intestine(2)|lung(8)	13						c.(280-282)Gat>Aat		Na+/K+ transporting ATPase interacting 3							114.0	108.0	110.0					8																	63659497		1990	4167	6157	SO:0001583	missense	286183					integral to membrane|plasma membrane		g.chr8:63659497G>A	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.280G>A	8.37:g.63659497G>A	ENSP00000429073:p.Asp94Asn					NKAIN3_ENST00000328472.5_Missense_Mutation_p.D94N|NKAIN3_ENST00000519049.1_3'UTR	p.D94N	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN			4	412	+	Breast(64;0.127)	Lung NSC(129;0.187)	94						Missense_Mutation	SNP	ENST00000523211.1	37	c.280G>A	CCDS55239.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262570	0.95399	.	.	ENSG00000185942	ENST00000545532;ENST00000523211;ENST00000524201;ENST00000328472	T;T;T	0.20881	2.04;2.04;2.04	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	L	0.60067	1.865	0.80722	D	1	D	0.64830	0.994	P	0.53912	0.737	T	0.02345	-1.1173	10	0.48119	T	0.1	-24.9147	18.8517	0.92235	0.0:0.0:1.0:0.0	.	94	Q8N8D7	NKAI3_HUMAN	N	94;94;67;94	ENSP00000429073:D94N;ENSP00000429393:D67N;ENSP00000333627:D94N	ENSP00000333627:D94N	D	+	1	0	NKAIN3	63822051	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.363000	0.97131	2.700000	0.92200	0.650000	0.86243	GAT		0.448	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688		17	44	0	0	0	1	0	17	44				
PGM2	55276	broad.mit.edu	37	4	37851807	37851807	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:37851807A>G	ENST00000381967.4	+	12	1515	c.1415A>G	c.(1414-1416)tAt>tGt	p.Y472C	PGM2_ENST00000537241.1_Missense_Mutation_p.Y312C	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	472					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TTTGATAGGTATGGCTACCAT	0.313																																						ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(1414-1416)tAt>tGt		phosphoglucomutase 2							35.0	39.0	38.0					4																	37851807		2199	4299	6498	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37851807A>G	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1415A>G	4.37:g.37851807A>G	ENSP00000371393:p.Tyr472Cys					PGM2_ENST00000537241.1_Missense_Mutation_p.Y312C	p.Y472C	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN			12	1515	+			472					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.1415A>G	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.045917	0.75846	.	.	ENSG00000169299	ENST00000381967;ENST00000537241	T;T	0.51817	0.69;1.51	5.53	5.53	0.82687	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (1);	0.000000	0.85682	D	0.000000	T	0.75110	0.3805	M	0.92970	3.365	0.80722	D	1	D	0.54047	0.964	D	0.66084	0.941	T	0.82030	-0.0659	10	0.87932	D	0	-2.7933	15.6723	0.77289	1.0:0.0:0.0:0.0	.	472	Q96G03	PGM2_HUMAN	C	472;312	ENSP00000371393:Y472C;ENSP00000437342:Y312C	ENSP00000371393:Y472C	Y	+	2	0	PGM2	37528202	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.253000	0.95501	2.105000	0.64084	0.528000	0.53228	TAT		0.313	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		5	24	0	0	0	1	0	5	24				
PCDHA9	9752	broad.mit.edu	37	5	140229613	140229613	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140229613C>T	ENST00000532602.1	+	1	2566	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.H511H|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	511	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCAGTGCACGCGGAGAGCG	0.701																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1531-1533)caC>caT									61.0	68.0	66.0					5																	140229613		2196	4270	6466	SO:0001819	synonymous_variant	9752							g.chr5:140229613C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1533C>T	5.37:g.140229613C>T						PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.H511H|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.H511H	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2257	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1533C>T	CCDS54920.1																																																																																				0.701	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		64	205	0	0	0	1	0	64	205				
ARID2	196528	broad.mit.edu	37	12	46243457	46243457	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:46243457A>G	ENST00000334344.6	+	14	1982	c.1810A>G	c.(1810-1812)Ata>Gta	p.I604V	ARID2_ENST00000422737.1_Missense_Mutation_p.I455V|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.I214V|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	604					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACGGAGGGCTATACCACTTCC	0.453			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(1810-1812)Ata>Gta		AT rich interactive domain 2 (ARID, RFX-like)							316.0	287.0	297.0					12																	46243457		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46243457A>G		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1810A>G	12.37:g.46243457A>G	ENSP00000335044:p.Ile604Val					ARID2_ENST00000422737.1_Missense_Mutation_p.I455V|ARID2_ENST00000444670.1_Missense_Mutation_p.I214V|ARID2_ENST00000479608.1_3'UTR	p.I604V	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	14	1982	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	604					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.1810A>G	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.446211	0.25987	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.30182	1.54	5.91	3.48	0.39840	.	0.237495	0.47852	D	0.000202	T	0.22859	0.0552	L	0.29908	0.895	0.80722	D	1	B;B	0.19073	0.033;0.02	B;B	0.20767	0.031;0.014	T	0.02917	-1.1094	10	0.27785	T	0.31	-2.9968	12.9026	0.58133	0.7359:0.2641:0.0:0.0	.	604;604	Q68CP9-3;Q68CP9	.;ARID2_HUMAN	V	604;455;214	ENSP00000335044:I604V	ENSP00000335044:I604V	I	+	1	0	ARID2	44529724	1.000000	0.71417	0.751000	0.31187	0.991000	0.79684	3.800000	0.55537	0.446000	0.26666	0.533000	0.62120	ATA		0.453	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		5	304	0	0	0	1	0	5	304				
ZMYM6	9204	broad.mit.edu	37	1	35480372	35480372	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:35480372A>G	ENST00000357182.4	-	6	948	c.721T>C	c.(721-723)Tat>Cat	p.Y241H	ZMYM6_ENST00000487874.1_Missense_Mutation_p.Y241H|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.Y241H	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	241					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CTATAGCAATAGCTCCCACAG	0.393																																						ENST00000357182.4																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(721-723)Tat>Cat		zinc finger, MYM-type 6							127.0	116.0	119.0					1																	35480372		2203	4300	6503	SO:0001583	missense	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35480372A>G	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.721T>C	1.37:g.35480372A>G	ENSP00000349708:p.Tyr241His					ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Missense_Mutation_p.Y241H|ZMYM6_ENST00000373340.2_Missense_Mutation_p.Y241H	p.Y241H	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN			6	948	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	241					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	c.721T>C	CCDS387.2	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473507	0.84640	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.35789	1.29;2.32	4.9	4.9	0.64082	.	0.225137	0.38605	N	0.001622	T	0.60444	0.2269	M	0.73962	2.25	0.41525	D	0.988425	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.97110	0.933;0.99;1.0	T	0.66228	-0.5976	10	0.87932	D	0	-8.2765	14.9762	0.71273	1.0:0.0:0.0:0.0	.	144;241;241	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	H	241	ENSP00000362437:Y241H;ENSP00000349708:Y241H	ENSP00000349708:Y241H	Y	-	1	0	ZMYM6	35252959	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.395000	0.73228	2.180000	0.69256	0.460000	0.39030	TAT		0.393	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		18	61	0	0	0	1	0	18	61				
FASN	2194	broad.mit.edu	37	17	80037120	80037120	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:80037120C>T	ENST00000306749.2	-	43	7653	c.7435G>A	c.(7435-7437)Ggt>Agt	p.G2479S	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2479	Thioesterase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CGGTGGTCACCCTCGATGACG	0.657																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(7435-7437)Ggt>Agt		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						109.0	92.0	97.0					17																	80037120		2203	4300	6503	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80037120C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.7435G>A	17.37:g.80037120C>T	ENSP00000304592:p.Gly2479Ser						p.G2479S	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		43	7653	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		2479			Thioesterase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.7435G>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362356	0.61403	.	.	ENSG00000169710	ENST00000306749	T	0.42131	0.98	4.43	4.43	0.53597	Thioesterase (1);	0.000000	0.85682	U	0.000000	T	0.66066	0.2752	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70601	-0.4827	10	0.56958	D	0.05	-21.7321	12.3318	0.55043	0.1691:0.8309:0.0:0.0	.	2479	P49327	FAS_HUMAN	S	2479	ENSP00000304592:G2479S	ENSP00000304592:G2479S	G	-	1	0	FASN	77630409	1.000000	0.71417	0.998000	0.56505	0.070000	0.16714	6.910000	0.75741	2.292000	0.77174	0.542000	0.68232	GGT		0.657	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		8	107	0	0	0	1	0	8	107				
RFX1	5989	broad.mit.edu	37	19	14077341	14077341	+	Splice_Site	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:14077341G>A	ENST00000254325.4	-	14	2087	c.1853C>T	c.(1852-1854)gCc>gTc	p.A618V		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	618					immune response (GO:0006955)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GTCGACAATGGCCTGTGGCAG	0.667																																						ENST00000254325.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.e14-1		regulatory factor X, 1 (influences HLA class II expression)							55.0	48.0	50.0					19																	14077341		2203	4300	6503	SO:0001630	splice_region_variant	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14077341G>A		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1852-1C>T	19.37:g.14077341G>A							p.A618_splice	NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		14	2087	-			618						Splice_Site	SNP	ENST00000254325.4	37	c.1851_splice	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131227	0.37630	.	.	ENSG00000132005	ENST00000254325	T	0.08720	3.06	4.47	3.39	0.38822	.	0.000000	0.85682	D	0.000000	T	0.13798	0.0334	M	0.81497	2.545	0.58432	D	0.999995	P	0.37276	0.589	B	0.36335	0.222	T	0.03193	-1.1062	10	0.59425	D	0.04	-26.1301	12.3857	0.55330	0.0:0.0:0.8298:0.1702	.	618	P22670	RFX1_HUMAN	V	618	ENSP00000254325:A618V	ENSP00000254325:A618V	A	-	2	0	RFX1	13938341	1.000000	0.71417	1.000000	0.80357	0.146000	0.21551	6.507000	0.73717	1.039000	0.40074	0.561000	0.74099	GCC		0.667	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918	Missense_Mutation	20	45	0	0	0	1	0	20	45				
TSSK1B	83942	broad.mit.edu	37	5	112770140	112770140	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:112770140C>T	ENST00000390666.3	-	1	588	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	133	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.V133I(2)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TCCCGGTGGACGACGTCCAGG	0.557																																						ENST00000390666.3																			2	Substitution - Missense(2)	p.V133I(2)	large_intestine(2)	large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13						c.(397-399)Gtc>Atc		testis-specific serine kinase 1B							86.0	82.0	84.0					5																	112770140		2202	4300	6502	SO:0001583	missense	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112770140C>T	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.397G>A	5.37:g.112770140C>T	ENSP00000375081:p.Val133Ile					CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA	p.V133I	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	1	588	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	133			Protein kinase.		B2R8D9	Missense_Mutation	SNP	ENST00000390666.3	37	c.397G>A	CCDS4112.1	.	.	.	.	.	.	.	.	.	.	C	8.919	0.960571	0.18583	.	.	ENSG00000212122	ENST00000390666	T	0.22336	1.96	1.24	0.218	0.15270	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.31301	U	0.007881	T	0.18635	0.0447	N	0.16743	0.435	0.21325	N	0.999729	D	0.60160	0.987	P	0.58820	0.846	T	0.10941	-1.0608	10	0.54805	T	0.06	.	4.3273	0.11046	0.0:0.5479:0.0:0.4521	.	133	Q9BXA7	TSSK1_HUMAN	I	133	ENSP00000375081:V133I	ENSP00000375081:V133I	V	-	1	0	TSSK1B	112798039	0.555000	0.26530	0.902000	0.35471	0.143000	0.21401	0.822000	0.27352	-0.335000	0.08451	-0.657000	0.03884	GTC		0.557	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	NM_032028		18	77	0	0	0	1	0	18	77				
ERGIC1	57222	broad.mit.edu	37	5	172359522	172359522	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:172359522T>C	ENST00000393784.3	+	8	764	c.625T>C	c.(625-627)Tac>Cac	p.Y209H		NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	209					ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTCCTACCAGTACACGGTGGC	0.642											OREG0017050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000393784.3																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9						c.(625-627)Tac>Cac		endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1							64.0	50.0	55.0					5																	172359522		2203	4300	6503	SO:0001583	missense	57222				ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr5:172359522T>C	AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.625T>C	5.37:g.172359522T>C	ENSP00000377374:p.Tyr209His		OREG0017050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	237		p.Y209H	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		8	764	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	209					Q9H0L0|Q9H2J2|Q9ULN9	Missense_Mutation	SNP	ENST00000393784.3	37	c.625T>C	CCDS34292.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.886989	0.91814	.	.	ENSG00000113719	ENST00000393784	.	.	.	4.9	4.9	0.64082	Domain of unknown function DUF1692 (1);	0.000000	0.85682	D	0.000000	D	0.86904	0.6045	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.77557	0.942;0.99	D	0.91030	0.4863	9	0.87932	D	0	-29.5801	14.2331	0.65906	0.0:0.0:0.0:1.0	.	154;209	B4E0N6;Q969X5	.;ERGI1_HUMAN	H	209	.	ENSP00000377374:Y209H	Y	+	1	0	ERGIC1	172292128	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.780000	0.85658	1.844000	0.53588	0.533000	0.62120	TAC		0.642	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252938.3	NM_020462		3	42	0	0	0	1	0	3	42				
SLC17A6	57084	broad.mit.edu	37	11	22396403	22396403	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:22396403A>G	ENST00000263160.3	+	9	1581	c.1144A>G	c.(1144-1146)Acg>Gcg	p.T382A		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	382					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TCTTTCAACTACGACAGTGAG	0.373																																						ENST00000263160.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.(1144-1146)Acg>Gcg		solute carrier family 17 (vesicular glutamate transporter), member 6							211.0	209.0	210.0					11																	22396403		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22396403A>G	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1144A>G	11.37:g.22396403A>G	ENSP00000263160:p.Thr382Ala						p.T382A	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN			9	1581	+			382					A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.1144A>G	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.953653	0.92660	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.66638	-0.22	6.06	6.06	0.98353	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.78972	0.4368	M	0.74467	2.265	0.80722	D	1	P	0.45902	0.868	P	0.55087	0.768	T	0.80725	-0.1254	10	0.66056	D	0.02	.	16.6175	0.84920	1.0:0.0:0.0:0.0	.	382	Q9P2U8	VGLU2_HUMAN	A	382;270	ENSP00000263160:T382A	ENSP00000263160:T382A	T	+	1	0	SLC17A6	22352979	1.000000	0.71417	0.991000	0.47740	0.935000	0.57460	8.953000	0.93041	2.326000	0.78906	0.472000	0.43445	ACG		0.373	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		47	143	0	0	0	1	0	47	143				
NPC1	4864	broad.mit.edu	37	18	21123524	21123524	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:21123524G>A	ENST00000269228.5	-	14	2694	c.2140C>T	c.(2140-2142)Cgt>Tgt	p.R714C	NPC1_ENST00000412552.2_Missense_Mutation_p.R396C|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	714	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTTGAAGACGTTCATCTCTC	0.398																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(2140-2142)Cgt>Tgt		Niemann-Pick disease, type C1							60.0	62.0	61.0					18																	21123524		2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21123524G>A	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2140C>T	18.37:g.21123524G>A	ENSP00000269228:p.Arg714Cys					NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.R396C	p.R714C	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			14	2694	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		714			SSD.		B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.2140C>T	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080656	0.94050	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.96041	-3.89;-3.89	5.79	5.79	0.91817	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.971	D	0.98010	1.0365	10	0.87932	D	0	-14.1977	20.0413	0.97592	0.0:0.0:1.0:0.0	.	725;714	Q59GR1;O15118	.;NPC1_HUMAN	C	714;396;559	ENSP00000269228:R714C;ENSP00000408606:R396C	ENSP00000269228:R714C	R	-	1	0	NPC1	19377522	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.423000	0.97461	2.751000	0.94390	0.650000	0.86243	CGT		0.398	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		25	62	0	0	0	1	0	25	62				
PCDHGA12	26025	broad.mit.edu	37	5	140812493	140812493	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140812493C>T	ENST00000252085.3	+	1	2309	c.2167C>T	c.(2167-2169)Cgc>Tgc	p.R723C	PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	723					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACAAGTCACGCCTGCTGCA	0.657																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(2167-2169)Cgc>Tgc									60.0	69.0	66.0					5																	140812493		2203	4300	6503	SO:0001583	missense	26025							g.chr5:140812493C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2167C>T	5.37:g.140812493C>T	ENSP00000252085:p.Arg723Cys					PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron	p.R723C	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2309	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.2167C>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.071635	0.55646	.	.	ENSG00000253159	ENST00000252085	T	0.15603	2.41	5.23	5.23	0.72850	.	.	.	.	.	T	0.30792	0.0776	M	0.93062	3.375	0.09310	N	1	B;B	0.29805	0.257;0.082	B;B	0.26770	0.073;0.033	T	0.31336	-0.9947	9	0.59425	D	0.04	.	11.4691	0.50257	0.0:0.9154:0.0:0.0846	.	723;723	O60330-2;O60330	.;PCDGC_HUMAN	C	723	ENSP00000252085:R723C	ENSP00000252085:R723C	R	+	1	0	PCDHGA12	140792677	0.000000	0.05858	0.015000	0.15790	0.085000	0.17905	0.098000	0.15189	2.588000	0.87417	0.655000	0.94253	CGC		0.657	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		61	172	0	0	0	1	0	61	172				
ANKRD1	27063	broad.mit.edu	37	10	92675593	92675593	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:92675593A>G	ENST00000371697.3	-	7	944	c.696T>C	c.(694-696)taT>taC	p.Y232Y		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	232					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CCGCGCACTCATAGTGGCCAG	0.542																																						ENST00000371697.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27						c.(694-696)taT>taC		ankyrin repeat domain 1 (cardiac muscle)							52.0	45.0	48.0					10																	92675593		2203	4300	6503	SO:0001819	synonymous_variant	27063				cellular lipid metabolic process|defense response|signal transduction		DNA binding	g.chr10:92675593A>G	X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.696T>C	10.37:g.92675593A>G							p.Y232Y	NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN			7	944	-		Colorectal(252;0.0475)	232					Q96LE7	Silent	SNP	ENST00000371697.3	37	c.696T>C	CCDS7412.1																																																																																				0.542	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391		9	42	0	0	0	1	0	9	42				
MAU2	23383	broad.mit.edu	37	19	19455728	19455728	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:19455728C>T	ENST00000392313.6	+	11	1327	c.1148C>T	c.(1147-1149)aCa>aTa	p.T383I	MAU2_ENST00000262815.8_Missense_Mutation_p.T383I	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	383					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CAGCTGCACACATTGCTGGTG	0.552																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1147-1149)aCa>aTa		MAU2 sister chromatid cohesion factor							33.0	33.0	33.0					19																	19455728		1968	4151	6119	SO:0001583	missense	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19455728C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1148C>T	19.37:g.19455728C>T	ENSP00000376127:p.Thr383Ile					MAU2_ENST00000262815.8_Missense_Mutation_p.T383I	p.T383I	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			11	1194	+			383					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	c.1148C>T	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527125	0.64860	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	T;T	0.62639	0.01;0.01	5.38	5.38	0.77491	Tetratricopeptide-like helical (1);	0.000000	0.85682	U	0.000000	T	0.61887	0.2383	M	0.61703	1.905	0.80722	D	1	B	0.27910	0.193	B	0.30646	0.118	T	0.57974	-0.7718	10	0.22109	T	0.4	.	17.745	0.88418	0.0:1.0:0.0:0.0	.	383	Q9Y6X3	SCC4_HUMAN	I	383	ENSP00000376127:T383I;ENSP00000262815:T383I	ENSP00000262815:T383I	T	+	2	0	MAU2	19316728	1.000000	0.71417	0.971000	0.41717	0.957000	0.61999	7.512000	0.81728	2.541000	0.85698	0.555000	0.69702	ACA		0.552	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		17	43	0	0	0	1	0	17	43				
CHRD	8646	broad.mit.edu	37	3	184105783	184105783	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:184105783T>C	ENST00000204604.1	+	20	2762	c.2516T>C	c.(2515-2517)gTg>gCg	p.V839A	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.V381A|CHRD_ENST00000450923.1_Missense_Mutation_p.V839A|CHRD_ENST00000348986.3_Missense_Mutation_p.V799A	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	839	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCAGCCTGTGCGTGTCAAC	0.617																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2515-2517)gTg>gCg		chordin							46.0	39.0	42.0					3																	184105783		2203	4300	6503	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184105783T>C	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2516T>C	3.37:g.184105783T>C	ENSP00000204604:p.Val839Ala					CHRD_ENST00000348986.3_Missense_Mutation_p.V799A|CHRD_ENST00000450923.1_Missense_Mutation_p.V839A|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.V381A	p.V839A	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		20	2762	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		839			VWFC 3.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.2516T>C	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.323691	0.81580	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	4.73	4.73	0.59995	von Willebrand factor, type C (3);	0.332874	0.27735	N	0.018073	T	0.71921	0.3397	M	0.80183	2.485	0.41740	D	0.989602	P;P;B;P	0.46621	0.881;0.695;0.433;0.615	P;B;B;B	0.50109	0.631;0.423;0.392;0.307	T	0.77469	-0.2576	10	0.72032	D	0.01	-8.1665	13.0427	0.58908	0.0:0.0:0.0:1.0	.	381;799;839;839	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	A	839;839;799;381	ENSP00000204604:V839A;ENSP00000408972:V839A;ENSP00000334036:V799A;ENSP00000442948:V381A	ENSP00000204604:V839A	V	+	2	0	CHRD	185588477	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.227000	0.78070	1.768000	0.52137	0.455000	0.32223	GTG		0.617	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		11	35	0	0	0	1	0	11	35				
DHX58	79132	broad.mit.edu	37	17	40260095	40260095	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:40260095A>G	ENST00000251642.3	-	7	932	c.710T>C	c.(709-711)aTg>aCg	p.M237T		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	237					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GATTTGGTCCATGAGCTTCTT	0.552																																						ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(709-711)aTg>aCg		DEXH (Asp-Glu-X-His) box polypeptide 58							124.0	109.0	114.0					17																	40260095		2203	4300	6503	SO:0001583	missense	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40260095A>G	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.710T>C	17.37:g.40260095A>G	ENSP00000251642:p.Met237Thr						p.M237T	NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	7	932	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	237					Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	c.710T>C	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.019900	0.54576	.	.	ENSG00000108771	ENST00000251642;ENST00000423748;ENST00000413196	T;T	0.27256	2.01;1.68	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.57388	0.2050	M	0.89715	3.055	0.48762	D	0.999701	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.972	T	0.65561	-0.6138	10	0.51188	T	0.08	.	14.0269	0.64590	1.0:0.0:0.0:0.0	.	230;237	B7Z455;Q96C10	.;DHX58_HUMAN	T	237;200;237	ENSP00000251642:M237T;ENSP00000416389:M237T	ENSP00000251642:M237T	M	-	2	0	DHX58	37513621	1.000000	0.71417	0.957000	0.39632	0.111000	0.19643	8.424000	0.90267	1.907000	0.55213	0.460000	0.39030	ATG		0.552	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		8	108	0	0	0	1	0	8	108				
SKP1	6500	broad.mit.edu	37	5	133494134	133494134	+	Intron	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:133494134T>C	ENST00000353411.6	-	5	640				SKP1_ENST00000517625.1_Intron|SKP1_ENST00000522855.1_Intron|SKP1_ENST00000522552.1_Silent_p.T156T|SKP1_ENST00000521216.1_Intron	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H2A monoubiquitination (GO:0035518)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	Cul7-RING ubiquitin ligase complex (GO:0031467)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACAAAACTGTGTGCTACCTA	0.408																																						ENST00000522552.1																			0				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5						c.(466-468)acA>acG		S-phase kinase-associated protein 1							188.0	187.0	187.0					5																	133494134		2203	4300	6503	SO:0001627	intron_variant	6500				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:133494134T>C	U33760	CCDS4171.1, CCDS4172.1	5q31	2011-11-18	2007-11-13	2007-11-13	ENSG00000113558	ENSG00000113558			10899	protein-coding gene	gene with protein product		601434	"""S-phase kinase-associated protein 1A (p19A)"""	SKP1A		7553852, 8646875	Standard	NM_006930		Approved	EMC19, OCP2, TCEB1L, MGC34403, OCP-II, p19A	uc003kzc.4	P63208	OTTHUMG00000129117	ENST00000353411.6:c.456+11A>G	5.37:g.133494134T>C						SKP1_ENST00000517625.1_Intron|SKP1_ENST00000353411.6_Intron|SKP1_ENST00000522855.1_Intron|SKP1_ENST00000521216.1_Intron	p.T156T	NM_006930.3	NP_008861.2	P63208	SKP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	577	-			157			Interaction with the F-box domain of F- box proteins (By similarity).		D3DQ97|D3DQ98|P34991|Q8TAY2	Silent	SNP	ENST00000353411.6	37	c.468A>G	CCDS4171.1																																																																																				0.408	SKP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251162.2	NM_170679		18	171	0	0	0	1	0	18	171				
TMA16	55319	broad.mit.edu	37	4	164436611	164436611	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:164436611T>C	ENST00000358572.5	+	5	727	c.386T>C	c.(385-387)cTt>cCt	p.L129P	TMA16_ENST00000513134.1_Intron|TMA16_ENST00000513272.1_Intron|TMA16_ENST00000508268.1_Missense_Mutation_p.L129P|TMA16_ENST00000511562.1_3'UTR	NM_018352.2	NP_060822.2	Q96EY4	TMA16_HUMAN	translation machinery associated 16 homolog (S. cerevisiae)	129						nucleus (GO:0005634)											GGATATGGCCTTGGTGTGCTC	0.433																																						ENST00000358572.5																			0											c.(385-387)cTt>cCt		translation machinery associated 16 homolog (S. cerevisiae)							144.0	153.0	150.0					4																	164436611		1942	4142	6084	SO:0001583	missense	55319							g.chr4:164436611T>C		CCDS43278.1	4q32.3	2012-03-02	2012-03-02	2012-03-02	ENSG00000198498	ENSG00000198498			25638	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 43"""	C4orf43		12477932	Standard	NM_018352		Approved	FLJ11184	uc003iqq.4	Q96EY4	OTTHUMG00000161528	ENST00000358572.5:c.386T>C	4.37:g.164436611T>C	ENSP00000351380:p.Leu129Pro					TMA16_ENST00000513134.1_Intron|TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000513272.1_Intron|TMA16_ENST00000508268.1_Missense_Mutation_p.L129P	p.L129P	NM_018352.2	NP_060822.2	Q96EY4	CD043_HUMAN			5	727	+			129					Q0P6E4|Q0P6J1|Q9NUR7	Missense_Mutation	SNP	ENST00000358572.5	37	c.386T>C	CCDS43278.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.421900	0.83559	.	.	ENSG00000198498	ENST00000358572;ENST00000508268	T;T	0.35973	1.28;1.28	5.49	5.49	0.81192	.	0.264446	0.41938	D	0.000800	T	0.57315	0.2045	M	0.66939	2.045	0.53688	D	0.999974	D	0.67145	0.996	D	0.67382	0.951	T	0.61232	-0.7104	10	0.87932	D	0	-2.3757	14.865	0.70406	0.0:0.0:0.0:1.0	.	129	Q96EY4	CD043_HUMAN	P	129	ENSP00000351380:L129P;ENSP00000423375:L129P	ENSP00000351380:L129P	L	+	2	0	C4orf43	164656061	0.926000	0.31397	0.847000	0.33407	0.904000	0.53231	6.995000	0.76257	2.215000	0.71742	0.528000	0.53228	CTT		0.433	TMA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365208.1	NM_018352		10	142	0	0	0	1	0	10	142				
SERAC1	84947	broad.mit.edu	37	6	158579328	158579328	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:158579328C>T	ENST00000367104.3	-	2	199	c.68G>A	c.(67-69)aGt>aAt	p.S23N	SERAC1_ENST00000607000.1_Missense_Mutation_p.S23N|SERAC1_ENST00000367101.1_Missense_Mutation_p.S23N|SERAC1_ENST00000367102.2_Missense_Mutation_p.S23N	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	23					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GTGTGTGCCACTTTTTGGTGG	0.398																																						ENST00000367102.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(67-69)aGt>aAt		serine active site containing 1							128.0	127.0	128.0					6																	158579328		2203	4300	6503	SO:0001583	missense	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158579328C>T	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.68G>A	6.37:g.158579328C>T	ENSP00000356071:p.Ser23Asn					SERAC1_ENST00000607000.1_Missense_Mutation_p.S23N|SERAC1_ENST00000367104.3_Missense_Mutation_p.S23N|SERAC1_ENST00000367101.1_Missense_Mutation_p.S23N	p.S23N			Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	2	209	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	23					Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	c.68G>A	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	C	0.130	-1.114807	0.01799	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.44083	0.93;0.93;0.93	5.01	1.04	0.20106	.	0.529891	0.23712	N	0.045309	T	0.10423	0.0255	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12889	-1.0530	10	0.46703	T	0.11	0.0	0.7203	0.00939	0.2753:0.3557:0.1342:0.2348	.	23	Q96JX3	SRAC1_HUMAN	N	23	ENSP00000356069:S23N;ENSP00000356071:S23N;ENSP00000356068:S23N	ENSP00000356068:S23N	S	-	2	0	SERAC1	158499316	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.359000	0.07632	0.831000	0.34780	0.460000	0.39030	AGT		0.398	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		5	92	0	0	0	1	0	5	92				
GUSB	2990	broad.mit.edu	37	7	65444432	65444432	+	Silent	SNP	G	G	T	rs537957979	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:65444432G>T	ENST00000304895.4	-	4	808	c.678C>A	c.(676-678)acC>acA	p.T226T	GUSB_ENST00000421103.1_Intron|GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Silent_p.T226T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	226					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CATCGATGTAGGTGGTGGGTG	0.527																																						ENST00000304895.4																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						c.(676-678)acC>acA		glucuronidase, beta							126.0	109.0	115.0					7																	65444432		2203	4300	6503	SO:0001819	synonymous_variant	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65444432G>T	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.678C>A	7.37:g.65444432G>T						GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000421103.1_Intron|GUSB_ENST00000345660.6_Silent_p.T226T	p.T226T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN			4	808	-			226					B4E1F6|E9PCV0|Q549U0|Q96CL9	Silent	SNP	ENST00000304895.4	37	c.678C>A	CCDS5530.1																																																																																				0.527	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		11	117	1	0	6.40141e-05	1	6.51258e-05	11	117				
MMRN1	22915	broad.mit.edu	37	4	90857093	90857093	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:90857093T>C	ENST00000394980.1	+	7	2581	c.2262T>C	c.(2260-2262)acT>acC	p.T754T	MMRN1_ENST00000264790.2_Silent_p.T754T|MMRN1_ENST00000508372.1_Silent_p.T496T|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	754					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTTTAAGTACTATTAAGGATA	0.323																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(2260-2262)acT>acC		multimerin 1							60.0	62.0	61.0					4																	90857093		2203	4298	6501	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857093T>C	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2262T>C	4.37:g.90857093T>C						MMRN1_ENST00000508372.1_Silent_p.T496T|MMRN1_ENST00000264790.2_Silent_p.T754T|MMRN1_ENST00000394981.1_Intron	p.T754T			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	2581	+		Hepatocellular(203;0.114)	754					Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.2262T>C	CCDS3635.1																																																																																				0.323	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		13	46	0	0	0	1	0	13	46				
TRPM1	4308	broad.mit.edu	37	15	31319297	31319297	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:31319297G>A	ENST00000256552.6	-	26	3464	c.3317C>T	c.(3316-3318)tCa>tTa	p.S1106L	RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.S1123L|TRPM1_ENST00000397795.2_Missense_Mutation_p.S1084L	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTTGGATATTGATTTTACTTC	0.378																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(3367-3369)tCa>tTa		transient receptor potential cation channel, subfamily M, member 1							70.0	67.0	68.0					15																	31319297		1876	4117	5993	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31319297G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3317C>T	15.37:g.31319297G>A	ENSP00000256552:p.Ser1106Leu					TRPM1_ENST00000397795.2_Missense_Mutation_p.S1084L|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.S1106L|RP11-348B17.1_ENST00000558755.1_RNA	p.S1123L	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	25	3681	-		all_lung(180;1.92e-11)	1084						Missense_Mutation	SNP	ENST00000256552.6	37	c.3368C>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767885	0.90020	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.42131	0.98;0.98;0.98	5.59	5.59	0.84812	.	0.122786	0.64402	D	0.000020	T	0.61464	0.2349	M	0.83603	2.65	0.53688	D	0.999971	P;B	0.51351	0.944;0.227	P;B	0.50970	0.655;0.253	T	0.67964	-0.5534	10	0.87932	D	0	-15.7543	19.5842	0.95485	0.0:0.0:1.0:0.0	.	1078;1084	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	L	1084;1123;1106;1084	ENSP00000380897:S1084L;ENSP00000437849:S1123L;ENSP00000256552:S1106L	ENSP00000256552:S1106L	S	-	2	0	TRPM1	29106589	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.863000	0.87023	2.627000	0.88993	0.655000	0.94253	TCA		0.378	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		14	61	0	0	0	1	0	14	61				
SEMA7A	8482	broad.mit.edu	37	15	74703101	74703101	+	Missense_Mutation	SNP	C	C	T	rs140128092	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:74703101C>T	ENST00000261918.4	-	14	2413	c.1865G>A	c.(1864-1866)cGc>cAc	p.R622H	SEMA7A_ENST00000543145.2_Missense_Mutation_p.R608H|SEMA7A_ENST00000542748.1_Missense_Mutation_p.R457H	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	622	Ig-like C2-type.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CTGAGCCTCGCGGAAGTAGGA	0.667													C|||	5	0.000998403	0.0008	0.0014	5008	,	,		18073	0.0		0.002	False		,,,				2504	0.001					ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(1864-1866)cGc>cAc		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4393	2.1+/-5.4	0,1,2196	58.0	58.0	58.0		1823,1370,1865	-3.0	0.0	15	dbSNP_134	58	1,8591	1.2+/-3.3	0,1,4295	yes	missense,missense,missense	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	29,29,29	0,2,6491	TT,TC,CC		0.0116,0.0228,0.0154	benign,benign,benign	608/653,457/502,622/667	74703101	2,12984	2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74703101C>T	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1865G>A	15.37:g.74703101C>T	ENSP00000261918:p.Arg622His					SEMA7A_ENST00000543145.2_Missense_Mutation_p.R608H|SEMA7A_ENST00000542748.1_Missense_Mutation_p.R457H	p.R622H	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			14	2413	-			622			Ig-like C2-type.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.1865G>A	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499097	0.26861	2.28E-4	1.16E-4	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.21031	2.05;2.03;2.25	4.55	-2.95	0.05564	Immunoglobulin subtype (1);	0.553865	0.18348	N	0.143959	T	0.10723	0.0262	N	0.21448	0.665	0.09310	N	1	B;B	0.14805	0.009;0.011	B;B	0.06405	0.001;0.002	T	0.37009	-0.9724	10	0.10636	T	0.68	-2.4365	11.9801	0.53115	0.0:0.6958:0.0:0.3042	.	608;622	F5H1S0;O75326	.;SEM7A_HUMAN	H	622;608;457	ENSP00000261918:R622H;ENSP00000438966:R608H;ENSP00000441493:R457H	ENSP00000261918:R622H	R	-	2	0	SEMA7A	72490154	0.000000	0.05858	0.007000	0.13788	0.995000	0.86356	-1.001000	0.03690	-1.013000	0.03383	0.555000	0.69702	CGC		0.667	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		9	54	0	0	0	1	0	9	54				
RP1	6101	broad.mit.edu	37	8	55537721	55537721	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:55537721A>T	ENST00000220676.1	+	4	1427	c.1279A>T	c.(1279-1281)Aat>Tat	p.N427Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	427					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)			TAGTTGGGAGAATGCTACTGT	0.448																																					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.(1279-1281)Aat>Tat		retinitis pigmentosa 1 (autosomal dominant)							103.0	105.0	104.0					8																	55537721		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.chr8:55537721A>T	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.1279A>T	8.37:g.55537721A>T	ENSP00000220676:p.Asn427Tyr						p.N427Y	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	1427	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	427						Missense_Mutation	SNP	ENST00000220676.1	37	c.1279A>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.343123	0.41498	.	.	ENSG00000104237	ENST00000220676	T	0.34072	1.38	5.15	4.0	0.46444	.	0.094770	0.46442	D	0.000282	T	0.47173	0.1431	M	0.72118	2.19	0.38222	D	0.940779	D	0.65815	0.995	P	0.53722	0.733	T	0.53885	-0.8375	10	0.87932	D	0	.	8.3613	0.32361	0.8479:0.0:0.1521:0.0	.	427	P56715	RP1_HUMAN	Y	427	ENSP00000220676:N427Y	ENSP00000220676:N427Y	N	+	1	0	RP1	55700274	0.808000	0.29022	0.968000	0.41197	0.556000	0.35491	1.546000	0.36179	0.821000	0.34540	-0.281000	0.10026	AAT		0.448	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		32	134	0	0	0	1	0	32	134				
HSPA5	3309	broad.mit.edu	37	9	127999357	127999357	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:127999357C>T	ENST00000324460.6	-	8	1682	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	493					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TCTGTGGGACCCCACGAGGAG	0.423										Prostate(1;0.17)																												ENST00000324460.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(1477-1479)ggG>ggA		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)						74.0	75.0	75.0					9																	127999357		2203	4296	6499	SO:0001819	synonymous_variant	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:127999357C>T		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1479G>A	9.37:g.127999357C>T		Prostate(1;0.17)					p.G493G	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN			8	1682	-			493					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Silent	SNP	ENST00000324460.6	37	c.1479G>A	CCDS6863.1																																																																																				0.423	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			22	67	0	0	0	1	0	22	67				
DUPD1	338599	broad.mit.edu	37	10	76803760	76803760	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:76803760G>A	ENST00000338487.5	-	2	215	c.216C>T	c.(214-216)gaC>gaT	p.D72D		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	72	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCCTATAGCGGTCCAGCGCCG	0.701																																						ENST00000338487.5																			0				breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11						c.(214-216)gaC>gaT		dual specificity phosphatase and pro isomerase domain containing 1							28.0	32.0	31.0					10																	76803760		2203	4299	6502	SO:0001819	synonymous_variant	338599					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76803760G>A		CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.216C>T	10.37:g.76803760G>A							p.D72D	NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN			2	215	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		72			Tyrosine-protein phosphatase.		B2RP93	Silent	SNP	ENST00000338487.5	37	c.216C>T	CCDS31223.1																																																																																				0.701	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741		23	60	0	0	0	1	0	23	60				
CNNM2	54805	broad.mit.edu	37	10	104678805	104678805	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:104678805T>C	ENST00000369878.4	+	1	756	c.568T>C	c.(568-570)Tac>Cac	p.Y190H	CNNM2_ENST00000369875.3_Missense_Mutation_p.Y190H|CNNM2_ENST00000433628.2_Missense_Mutation_p.Y190H	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	190					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAAGTCCTATTACCTGTGCAC	0.657																																						ENST00000369878.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(568-570)Tac>Cac		cyclin M2							88.0	96.0	94.0					10																	104678805		2203	4297	6500	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104678805T>C	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.568T>C	10.37:g.104678805T>C	ENSP00000358894:p.Tyr190His					CNNM2_ENST00000433628.2_Missense_Mutation_p.Y190H|CNNM2_ENST00000369875.3_Missense_Mutation_p.Y190H	p.Y190H	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	692	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	190					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.568T>C	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	T	8.723	0.914910	0.17907	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	T;T;T	0.74421	-0.66;-0.84;-0.66	4.63	3.49	0.39957	.	0.071971	0.64402	N	0.000020	T	0.74137	0.3677	L	0.38175	1.15	0.52099	D	0.999946	D;P;D	0.64830	0.994;0.947;0.994	P;B;P	0.59643	0.861;0.355;0.846	T	0.69224	-0.5201	10	0.30854	T	0.27	.	9.7558	0.40502	0.0:0.0834:0.0:0.9165	.	190;190;190	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	H	190	ENSP00000392875:Y190H;ENSP00000358891:Y190H;ENSP00000358894:Y190H	ENSP00000286899:Y190H	Y	+	1	0	CNNM2	104668795	1.000000	0.71417	0.997000	0.53966	0.036000	0.12997	4.792000	0.62467	0.630000	0.30394	-0.379000	0.06801	TAC		0.657	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		75	232	0	0	0	1	0	75	232				
XKR6	286046	broad.mit.edu	37	8	10755966	10755966	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:10755966C>T	ENST00000416569.2	-	3	1448	c.1422G>A	c.(1420-1422)gtG>gtA	p.V474V	XKR6_ENST00000304437.2_Silent_p.V195V	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	474						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		ACAGTGCTGGCACCGCATAGG	0.478																																						ENST00000416569.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31						c.(1420-1422)gtG>gtA		XK, Kell blood group complex subunit-related family, member 6							105.0	98.0	100.0					8																	10755966		2203	4300	6503	SO:0001819	synonymous_variant	286046					integral to membrane		g.chr8:10755966C>T	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1422G>A	8.37:g.10755966C>T						XKR6_ENST00000304437.2_Silent_p.V195V	p.V474V	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1448	-			474					Q8TBA0	Silent	SNP	ENST00000416569.2	37	c.1422G>A	CCDS5978.2	.	.	.	.	.	.	.	.	.	.	C	3.669	-0.067912	0.07228	.	.	ENSG00000171044	ENST00000382461	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	T	0.73806	0.3634	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73084	-0.4094	4	.	.	.	-16.666	17.5937	0.88005	0.0:1.0:0.0:0.0	.	.	.	.	Y	251	.	.	C	-	2	0	XKR6	10793376	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.762000	0.47597	2.387000	0.81309	0.462000	0.41574	TGC		0.478	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		13	32	0	0	0	1	0	13	32				
UBR4	23352	broad.mit.edu	37	1	19422136	19422136	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:19422136T>A	ENST00000375254.3	-	93	13556	c.13529A>T	c.(13528-13530)aAa>aTa	p.K4510I	UBR4_ENST00000375224.1_Missense_Mutation_p.K217I|UBR4_ENST00000543981.1_Missense_Mutation_p.K174I|UBR4_ENST00000375217.2_Missense_Mutation_p.K4503I|UBR4_ENST00000429347.2_Missense_Mutation_p.K73I|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000375226.2_Missense_Mutation_p.K4486I|UBR4_ENST00000375267.2_Missense_Mutation_p.K4510I	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4510					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)		ACTGAACAATTTCAGTAGCAC	0.493																																						ENST00000375267.2																			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.(13528-13530)aAa>aTa		ubiquitin protein ligase E3 component n-recognin 4							107.0	88.0	94.0					1																	19422136		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19422136T>A	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.13529A>T	1.37:g.19422136T>A	ENSP00000364403:p.Lys4510Ile					UBR4_ENST00000375254.3_Missense_Mutation_p.K4510I|UBR4_ENST00000543981.1_Missense_Mutation_p.K174I|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000375217.2_Missense_Mutation_p.K4503I|UBR4_ENST00000375224.1_Missense_Mutation_p.K217I|UBR4_ENST00000375226.2_Missense_Mutation_p.K4486I|UBR4_ENST00000429347.2_Missense_Mutation_p.K73I	p.K4510I			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)	93	13532	-		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)	4510					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.13529A>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	31	5.079118	0.94050	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.64294	0.2585	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.81914	0.995;0.995;0.995;0.991	T	0.70619	-0.4822	10	0.87932	D	0	.	14.8249	0.70104	0.0:0.0:0.0:1.0	.	174;73;4510;4486	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	I	4510;4510;4503;4486;217;73;174	ENSP00000364403:K4510I;ENSP00000364416:K4510I;ENSP00000364365:K4503I;ENSP00000364374:K4486I;ENSP00000364372:K217I;ENSP00000394173:K73I;ENSP00000444070:K174I	ENSP00000364365:K4503I	K	-	2	0	UBR4	19294723	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.452000	0.80683	2.241000	0.73720	0.533000	0.62120	AAA		0.493	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		17	38	0	0	0	1	0	17	38				
TMC5	79838	broad.mit.edu	37	16	19477442	19477442	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:19477442C>T	ENST00000396229.2	+	9	2273	c.1524C>T	c.(1522-1524)taC>taT	p.Y508Y	TMC5_ENST00000561503.1_Silent_p.Y149Y|TMC5_ENST00000564959.1_Silent_p.Y191Y|TMC5_ENST00000541464.1_Silent_p.Y508Y|TMC5_ENST00000219821.5_Silent_p.Y262Y|TMC5_ENST00000542583.2_Silent_p.Y508Y|TMC5_ENST00000381414.4_Silent_p.Y508Y	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	508					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ATGGCTTTTACACCAATTCCA	0.458																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1522-1524)taC>taT		transmembrane channel-like 5							189.0	142.0	158.0					16																	19477442		2197	4300	6497	SO:0001819	synonymous_variant	79838					integral to membrane		g.chr16:19477442C>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.1524C>T	16.37:g.19477442C>T						TMC5_ENST00000542583.2_Silent_p.Y508Y|TMC5_ENST00000564959.1_Silent_p.Y191Y|TMC5_ENST00000561503.1_Silent_p.Y149Y|TMC5_ENST00000541464.1_Silent_p.Y508Y|TMC5_ENST00000219821.5_Silent_p.Y262Y|TMC5_ENST00000381414.4_Silent_p.Y508Y	p.Y508Y	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			9	2273	+			508					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Silent	SNP	ENST00000396229.2	37	c.1524C>T	CCDS45431.1																																																																																				0.458	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		5	68	0	0	0	1	0	5	68				
CNTN1	1272	broad.mit.edu	37	12	41330678	41330678	+	Missense_Mutation	SNP	A	A	G	rs372129671		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:41330678A>G	ENST00000551295.2	+	10	1198	c.1081A>G	c.(1081-1083)Aca>Gca	p.T361A	CNTN1_ENST00000547702.1_Missense_Mutation_p.T361A|CNTN1_ENST00000347616.1_Missense_Mutation_p.T361A|CNTN1_ENST00000360099.3_Missense_Mutation_p.T361A|CNTN1_ENST00000547849.1_Missense_Mutation_p.T361A|CNTN1_ENST00000348761.2_Missense_Mutation_p.T350A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	361	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.T361A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCCCATCCCTACAATCCGATG	0.478																																						ENST00000551295.2																			1	Substitution - Missense(1)	p.T361A(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(1081-1083)Aca>Gca		contactin 1		A	ALA/THR,ALA/THR	0,4406		0,0,2203	222.0	174.0	190.0		1081,1048	4.1	0.9	12		190	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CNTN1	NM_001843.2,NM_175038.1	58,58	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	361/1019,350/1008	41330678	1,13005	2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41330678A>G	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1081A>G	12.37:g.41330678A>G	ENSP00000447006:p.Thr361Ala					CNTN1_ENST00000360099.3_Missense_Mutation_p.T361A|CNTN1_ENST00000547702.1_Missense_Mutation_p.T361A|CNTN1_ENST00000348761.2_Missense_Mutation_p.T350A|CNTN1_ENST00000347616.1_Missense_Mutation_p.T361A|CNTN1_ENST00000547849.1_Missense_Mutation_p.T361A	p.T361A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			10	1198	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	361			Ig-like C2-type 4.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.1081A>G	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.517038	0.27123	0.0	1.16E-4	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.24	4.1	0.47936	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.479967	0.23349	N	0.049142	T	0.58793	0.2147	L	0.43646	1.37	0.22684	N	0.99885	B;B;B	0.16166	0.007;0.013;0.016	B;B;B	0.25405	0.02;0.036;0.06	T	0.53099	-0.8486	10	0.46703	T	0.11	.	10.9452	0.47296	0.9262:0.0:0.0738:0.0	.	361;350;361	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	A	361;361;361;361;361;350	ENSP00000448004:T361A;ENSP00000447006:T361A;ENSP00000448653:T361A;ENSP00000325660:T361A;ENSP00000353213:T361A;ENSP00000261160:T350A	ENSP00000325660:T361A	T	+	1	0	CNTN1	39616945	0.565000	0.26610	0.946000	0.38457	0.829000	0.46940	1.646000	0.37249	0.946000	0.37632	0.455000	0.32223	ACA		0.478	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		11	223	0	0	0	1	0	11	223				
CYP19A1	1588	broad.mit.edu	37	15	51504657	51504657	+	Missense_Mutation	SNP	G	G	A	rs121434536		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:51504657G>A	ENST00000396402.1	-	9	1276	c.1123C>T	c.(1123-1125)Cgc>Tgc	p.R375C	CYP19A1_ENST00000260433.2_Missense_Mutation_p.R375C|CYP19A1_ENST00000396404.4_Missense_Mutation_p.R375C|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.R375C	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	375			R -> C (in AROD). {ECO:0000269|PubMed:8530621}.|R -> L. {ECO:0000269|PubMed:18987736}.		androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	AAGGCTTTGCGCATGACCAAG	0.408																																					Melanoma(142;1016 1807 39614 48966 51721)	ENST00000396402.1																			0				endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33	GRCh37	CM950332	CYP19A1	M	rs121434536	c.(1123-1125)Cgc>Tgc		cytochrome P450, family 19, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						200.0	181.0	187.0					15																	51504657		2196	4293	6489	SO:0001583	missense	1588				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51504657G>A	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.1123C>T	15.37:g.51504657G>A	ENSP00000379683:p.Arg375Cys					CYP19A1_ENST00000396404.4_Missense_Mutation_p.R375C|CYP19A1_ENST00000559878.1_Missense_Mutation_p.R375C|CYP19A1_ENST00000260433.2_Missense_Mutation_p.R375C|RP11-108K3.1_ENST00000559909.1_lincRNA	p.R375C	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	9	1276	-			375		R -> C (in AROD).|R -> L.			Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.1123C>T	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403407	0.83230	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404	T;T;T	0.81078	-1.45;-1.45;-1.45	6.06	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.93367	0.7885	H	0.97564	4.03	0.80722	A	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95584	0.8649	9	0.87932	D	0	-13.7841	15.3632	0.74499	0.0:0.0:0.734:0.266	.	375	P11511	CP19A_HUMAN	C	375	ENSP00000379683:R375C;ENSP00000260433:R375C;ENSP00000379685:R375C	ENSP00000260433:R375C	R	-	1	0	CYP19A1	49291949	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.997000	0.49457	1.567000	0.49668	0.655000	0.94253	CGC		0.408	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			16	89	0	0	0	1	0	16	89				
KCNMB2	10242	broad.mit.edu	37	3	178543536	178543536	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:178543536T>A	ENST00000432997.1	+	3	569	c.217T>A	c.(217-219)Tac>Aac	p.Y73N	KCNMB2_ENST00000452583.1_Missense_Mutation_p.Y73N|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.Y73N|KCNMB2_ENST00000358316.3_Missense_Mutation_p.Y73N|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	84					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	CCTGCGCTCATACATGCAGAG	0.532																																						ENST00000432997.1																			0				NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(217-219)Tac>Aac		potassium large conductance calcium-activated channel, subfamily M, beta member 2							183.0	171.0	175.0					3																	178543536		2203	4300	6503	SO:0001583	missense	10242				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr3:178543536T>A	AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.217T>A	3.37:g.178543536T>A	ENSP00000407592:p.Tyr73Asn					KCNMB2_ENST00000420517.2_Missense_Mutation_p.Y73N|KCNMB2_ENST00000358316.3_Missense_Mutation_p.Y73N|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.Y73N	p.Y73N	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		3	569	+	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		73					B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000432997.1	37	c.217T>A	CCDS3223.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.319334	0.81469	.	.	ENSG00000197584	ENST00000437510;ENST00000420517;ENST00000452583;ENST00000432997;ENST00000455865;ENST00000358316;ENST00000457763	T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.00824	-1.1551	10	0.41790	T	0.15	-22.4999	15.4059	0.74877	0.0:0.0:0.0:1.0	.	73	Q9Y691	KCMB2_HUMAN	N	73;73;73;73;73;73;54	ENSP00000395807:Y73N;ENSP00000408252:Y73N;ENSP00000397483:Y73N;ENSP00000407592:Y73N;ENSP00000399100:Y73N;ENSP00000351068:Y73N	ENSP00000351068:Y73N	Y	+	1	0	KCNMB2	180026230	1.000000	0.71417	0.986000	0.45419	0.956000	0.61745	7.698000	0.84413	2.053000	0.61076	0.533000	0.62120	TAC		0.532	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361		47	171	0	0	0	1	0	47	171				
AASDH	132949	broad.mit.edu	37	4	57237793	57237793	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:57237793T>C	ENST00000205214.6	-	5	865	c.685A>G	c.(685-687)Aca>Gca	p.T229A	AASDH_ENST00000602986.1_Missense_Mutation_p.T76A|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000513376.1_Missense_Mutation_p.T129A|AASDH_ENST00000451613.1_Missense_Mutation_p.T229A|AASDH_ENST00000510762.1_Intron|AASDH_ENST00000502617.1_Missense_Mutation_p.T229A	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	229					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TCTTCTTGTGTGATGTCAAAA	0.383																																						ENST00000205214.6																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(685-687)Aca>Gca		aminoadipate-semialdehyde dehydrogenase							103.0	83.0	90.0					4																	57237793		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57237793T>C	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.685A>G	4.37:g.57237793T>C	ENSP00000205214:p.Thr229Ala					AASDH_ENST00000451613.1_Missense_Mutation_p.T229A|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000510762.1_Intron|AASDH_ENST00000513376.1_Missense_Mutation_p.T129A|AASDH_ENST00000602986.1_Missense_Mutation_p.T76A|AASDH_ENST00000502617.1_Missense_Mutation_p.T229A	p.T229A	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN			5	865	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	229					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.685A>G	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	t	15.37	2.813898	0.50527	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.52295	0.67;0.67;2.74;0.67	5.37	5.37	0.77165	AMP-dependent synthetase/ligase (1);	0.345254	0.32204	N	0.006431	T	0.42988	0.1227	L	0.50993	1.605	0.38491	D	0.947987	P;P;P;P	0.41366	0.649;0.57;0.532;0.747	B;B;B;B	0.40134	0.311;0.154;0.281;0.32	T	0.51204	-0.8735	10	0.56958	D	0.05	-4.1165	10.3409	0.43877	0.1468:0.0:0.0:0.8532	.	76;229;229;229	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	A	229;129;229;76;229	ENSP00000205214:T229A;ENSP00000423760:T129A;ENSP00000409656:T229A;ENSP00000421171:T229A	ENSP00000205214:T229A	T	-	1	0	AASDH	56932550	1.000000	0.71417	0.866000	0.34008	0.974000	0.67602	3.490000	0.53245	2.043000	0.60533	0.525000	0.51046	ACA		0.383	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		6	66	0	0	0	1	0	6	66				
CEP170	9859	broad.mit.edu	37	1	243328085	243328085	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:243328085T>C	ENST00000366542.1	-	13	3228	c.3177A>G	c.(3175-3177)tcA>tcG	p.S1059S	RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366543.1_Silent_p.S961S|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366544.1_Silent_p.S961S|CEP170_ENST00000490813.1_5'Flank	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1059	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GCTCATCAGCTGAGGTAAGTG	0.418																																						ENST00000366542.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(3175-3177)tcA>tcG		centrosomal protein 170kDa							33.0	30.0	31.0					1																	243328085		1801	4042	5843	SO:0001819	synonymous_variant	9859					centriole|microtubule|spindle		g.chr1:243328085T>C	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3177A>G	1.37:g.243328085T>C						RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366544.1_Silent_p.S961S|CEP170_ENST00000366543.1_Silent_p.S961S	p.S1059S	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	3228	-	all_neural(11;0.101)	all_cancers(173;0.003)	1059			Targeting to microtubules.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Silent	SNP	ENST00000366542.1	37	c.3177A>G	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	T	2.940	-0.219052	0.06101	.	.	ENSG00000143702	ENST00000336415	.	.	.	5.15	1.28	0.21552	.	.	.	.	.	T	0.43590	0.1254	.	.	.	0.44241	D	0.997085	.	.	.	.	.	.	T	0.22556	-1.0213	4	.	.	.	-9.1882	2.6825	0.05098	0.1381:0.0779:0.2861:0.4979	.	.	.	.	R	1023	.	.	Q	-	2	0	CEP170	241394708	0.860000	0.29831	0.894000	0.35097	0.943000	0.58893	1.039000	0.30266	0.283000	0.22279	-0.501000	0.04562	CAG		0.418	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		7	49	0	0	0	1	0	7	49				
CPA2	1358	broad.mit.edu	37	7	129906728	129906728	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:129906728A>G	ENST00000222481.4	+	1	62	c.7A>G	c.(7-9)Atg>Gtg	p.M3V		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	3					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					ACCCATGGCCATGAGGTTGAT	0.448																																						ENST00000222481.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(7-9)Atg>Gtg		carboxypeptidase A2 (pancreatic)							221.0	200.0	207.0					7																	129906728		2203	4300	6503	SO:0001583	missense	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129906728A>G	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.7A>G	7.37:g.129906728A>G	ENSP00000222481:p.Met3Val						p.M3V	NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN			1	62	+	Melanoma(18;0.0435)		3					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.7A>G	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276049	0.40294	.	.	ENSG00000158516	ENST00000222481	T	0.09445	2.98	6.01	4.85	0.62838	.	0.205916	0.49916	N	0.000127	T	0.31979	0.0814	M	0.87456	2.885	0.34127	D	0.664806	D;D	0.61080	0.974;0.989	P;P	0.61070	0.742;0.883	T	0.54009	-0.8357	10	0.62326	D	0.03	.	9.7208	0.40302	0.9215:0.0:0.0785:0.0	.	1;3	B4DDX9;P48052	.;CBPA2_HUMAN	V	3	ENSP00000222481:M3V	ENSP00000222481:M3V	M	+	1	0	CPA2	129693964	1.000000	0.71417	0.996000	0.52242	0.266000	0.26442	3.489000	0.53237	1.103000	0.41568	0.456000	0.33151	ATG		0.448	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		34	93	0	0	0	1	0	34	93				
KIF22	3835	broad.mit.edu	37	16	29810350	29810350	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:29810350C>T	ENST00000160827.4	+	5	644	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	KIF22_ENST00000569382.2_Missense_Mutation_p.R134W|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000561482.1_Missense_Mutation_p.R134W|KIF22_ENST00000400751.5_Missense_Mutation_p.R134W	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	202	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGAAGACTGCCGGGGGAATAT	0.547																																						ENST00000561482.1																			0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.(400-402)Cgg>Tgg		kinesin family member 22							92.0	99.0	97.0					16																	29810350		2197	4296	6493	SO:0001583	missense	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29810350C>T	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.604C>T	16.37:g.29810350C>T	ENSP00000160827:p.Arg202Trp					KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000569382.2_Missense_Mutation_p.R134W|KIF22_ENST00000160827.4_Missense_Mutation_p.R202W|KIF22_ENST00000400751.5_Missense_Mutation_p.R134W	p.R134W	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN			5	1037	+			202			Kinesin-motor.		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	ENST00000160827.4	37	c.400C>T	CCDS10653.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757538	0.49468	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.75589	-0.95;-0.95	5.95	2.57	0.30868	Kinesin, motor domain (4);	.	.	.	.	T	0.63165	0.2488	L	0.51914	1.62	0.80722	D	1	B;B	0.19706	0.007;0.038	B;B	0.17098	0.017;0.006	T	0.64084	-0.6490	9	0.56958	D	0.05	.	3.4282	0.07418	0.1625:0.4507:0.295:0.0918	.	134;202	B7Z265;Q14807	.;KIF22_HUMAN	W	202;134	ENSP00000160827:R202W;ENSP00000383562:R134W	ENSP00000160827:R202W	R	+	1	2	KIF22	29717851	0.999000	0.42202	0.999000	0.59377	0.980000	0.70556	2.876000	0.48498	1.496000	0.48567	0.655000	0.94253	CGG		0.547	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2			34	164	0	0	0	1	0	34	164				
TBL1XR1	79718	broad.mit.edu	37	3	176752112	176752112	+	Splice_Site	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:176752112A>T	ENST00000430069.1	-	13	1383	c.1124T>A	c.(1123-1125)aTa>aAa	p.I375K	TBL1XR1_ENST00000457928.2_Splice_Site_p.I375K			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	375					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			CATACTCCATATCTAAACAAA	0.259																																						ENST00000430069.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.e13-1		transducin (beta)-like 1 X-linked receptor 1							57.0	52.0	53.0					3																	176752112		1799	4063	5862	SO:0001630	splice_region_variant	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176752112A>T	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.1123-1T>A	3.37:g.176752112A>T						TBL1XR1_ENST00000457928.2_Splice_Site_p.I375_splice	p.I375_splice			Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		13	1383	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	375					D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Splice_Site	SNP	ENST00000430069.1	37	c.1122_splice	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.740252	0.89573	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.66638	-0.22;-0.22	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.049093	0.85682	D	0.000000	D	0.85252	0.5654	M	0.92507	3.315	0.80722	D	1	D	0.64830	0.994	D	0.69142	0.962	D	0.88900	0.3352	10	0.87932	D	0	-7.6181	15.063	0.71970	1.0:0.0:0.0:0.0	.	375	Q9BZK7	TBL1R_HUMAN	K	375;375;237	ENSP00000405574:I375K;ENSP00000413251:I375K	ENSP00000405574:I375K	I	-	2	0	TBL1XR1	178234806	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.338000	0.96553	2.158000	0.67659	0.528000	0.53228	ATA		0.259	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665	Missense_Mutation	7	19	0	0	0	1	0	7	19				
ATXN1	6310	broad.mit.edu	37	6	16306681	16306681	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:16306681G>A	ENST00000244769.4	-	9	3263	c.2327C>T	c.(2326-2328)gCg>gTg	p.A776V	ATXN1_ENST00000436367.1_Missense_Mutation_p.A776V	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	776	Interaction with USP7.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCTCTCTGGCGCCGACCACCT	0.522																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(2326-2328)gCg>gTg		ataxin 1							80.0	74.0	76.0					6																	16306681		2203	4300	6503	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16306681G>A	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.2327C>T	6.37:g.16306681G>A	ENSP00000244769:p.Ala776Val					ATXN1_ENST00000436367.1_Missense_Mutation_p.A776V	p.A776V	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			9	3263	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	776			Interaction with USP7.		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.2327C>T	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	G	35	5.456665	0.96223	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	D;D	0.84070	-1.8;-1.8	6.07	6.07	0.98685	.	0.049163	0.85682	D	0.000000	D	0.88142	0.6357	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87897	0.2688	10	0.87932	D	0	-26.8322	20.6593	0.99626	0.0:0.0:1.0:0.0	.	776	P54253	ATX1_HUMAN	V	776	ENSP00000244769:A776V;ENSP00000416360:A776V	ENSP00000244769:A776V	A	-	2	0	ATXN1	16414660	1.000000	0.71417	0.691000	0.30163	0.987000	0.75469	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GCG		0.522	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		31	75	0	0	0	1	0	31	75				
TAF15	8148	broad.mit.edu	37	17	34171941	34171941	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:34171941T>C	ENST00000592237.1	+	18	1581	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A	TAF15_ENST00000588240.1_Silent_p.S546S|TAF15_ENST00000311979.3_Silent_p.S543S			Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|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)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GAGACCGAAGTGGAGGCTATG	0.617			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000592237.1				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1051-1053)gTg>gCg		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							75.0	90.0	85.0					17																	34171941		2203	4300	6503	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171941T>C	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000592237.1:c.1052T>C	17.37:g.34171941T>C	ENSP00000467528:p.Val351Ala					TAF15_ENST00000588240.1_Silent_p.S546S|TAF15_ENST00000311979.3_Silent_p.S543S	p.V351A			Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	18	1581	+		Ovarian(249;0.17)	0			Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000592237.1	37	c.1052T>C																																																																																					0.617	TAF15-006	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000449142.1	NM_139215		5	148	0	0	0	1	0	5	148				
VWA8	23078	broad.mit.edu	37	13	42264310	42264310	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:42264310A>G	ENST00000379310.3	-	33	4036	c.3968T>C	c.(3967-3969)gTt>gCt	p.V1323A	VWA8_ENST00000478987.1_5'UTR	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1323						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										ACCTTGTGTAACTCCAAACCC	0.428																																						ENST00000379310.3																			0											c.(3967-3969)gTt>gCt		von Willebrand factor A domain containing 8							97.0	97.0	97.0					13																	42264310		1934	4136	6070	SO:0001583	missense	23078							g.chr13:42264310A>G	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3968T>C	13.37:g.42264310A>G	ENSP00000368612:p.Val1323Ala					VWA8_ENST00000478987.1_5'UTR	p.V1323A	NM_015058.1	NP_055873.1					33	4036	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.3968T>C	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	A	7.947	0.744126	0.15710	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000478987	T	0.09911	2.93	5.54	3.06	0.35304	.	0.662748	0.15313	N	0.268975	T	0.07954	0.0199	L	0.40543	1.245	0.23010	N	0.998437	B	0.10296	0.003	B	0.09377	0.004	T	0.43245	-0.9403	10	0.13853	T	0.58	.	6.2532	0.20859	0.6849:0.0:0.0679:0.2472	.	1323	A3KMH1	K0564_HUMAN	A	1227;1323;94	ENSP00000368612:V1323A	ENSP00000251030:V1227A	V	-	2	0	KIAA0564	41162310	0.998000	0.40836	0.954000	0.39281	0.922000	0.55478	3.677000	0.54619	0.377000	0.24735	-0.274000	0.10170	GTT		0.428	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		20	60	0	0	0	1	0	20	60				
MIR377	494326	broad.mit.edu	37	14	101528398	101528398	+	RNA	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:101528398T>C	ENST00000362145.2	+	0	56				MIR541_ENST00000401360.1_RNA|MIR496_ENST00000385226.1_RNA|MIR154_ENST00000385243.1_RNA	NR_029869.1				microRNA 377																		TGAGCAGAGGTTGCCCTTGGT	0.522																																						ENST00000362145.2																			0																				209.0	180.0	189.0					14																	101528398		1568	3582	5150			494326							g.chr14:101528398T>C			14q32.31	2011-09-12		2008-12-18	ENSG00000199015	ENSG00000199015		"""ncRNAs / Micro RNAs"""	31870	non-coding RNA	RNA, micro				MIRN377			Standard	NR_029869		Approved	hsa-mir-377	uc010awh.1				14.37:g.101528398T>C								NR_029869.1						0	56	+									RNA	SNP	ENST00000362145.2	37																																																																																						0.522	MIR377-201	KNOWN	basic	miRNA	miRNA		NR_029869		9	131	0	0	0	1	0	9	131				
PPP2R2A	5520	broad.mit.edu	37	8	26227699	26227699	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:26227699A>G	ENST00000380737.3	+	10	1443	c.1114A>G	c.(1114-1116)Aac>Gac	p.N372D	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.N382D	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	372					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GTTTGACAGAAACACAAAGCG	0.413																																						ENST00000380737.3																			0				kidney(1)|large_intestine(2)|ovary(1)	4						c.(1114-1116)Aac>Gac		protein phosphatase 2, regulatory subunit B, alpha							78.0	72.0	74.0					8																	26227699		2203	4300	6503	SO:0001583	missense	5520							g.chr8:26227699A>G	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1114A>G	8.37:g.26227699A>G	ENSP00000370113:p.Asn372Asp					PPP2R2A_ENST00000315985.7_Missense_Mutation_p.N382D	p.N372D	NM_002717.3	NP_002708.1				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	10	1443	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	c.1114A>G	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	A	9.684	1.150193	0.21371	.	.	ENSG00000221914	ENST00000380737;ENST00000524169;ENST00000315985	T;T;T	0.70164	1.63;-0.46;1.63	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.317298	0.31784	U	0.007075	T	0.59115	0.2170	L	0.45581	1.43	0.40343	D	0.979058	B;B;B	0.13145	0.0;0.0;0.007	B;B;B	0.12156	0.001;0.0;0.007	T	0.55661	-0.8106	10	0.16420	T	0.52	-13.5748	15.6084	0.76692	1.0:0.0:0.0:0.0	.	382;372;373	B4E1T7;P63151;Q6ZP32	.;2ABA_HUMAN;.	D	372;151;382	ENSP00000370113:N372D;ENSP00000430320:N151D;ENSP00000325074:N382D	ENSP00000325074:N382D	N	+	1	0	PPP2R2A	26283616	0.965000	0.33210	1.000000	0.80357	0.996000	0.88848	3.282000	0.51693	2.326000	0.78906	0.533000	0.62120	AAC		0.413	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		15	64	0	0	0	1	0	15	64				
FGB	2244	broad.mit.edu	37	4	155490896	155490896	+	Missense_Mutation	SNP	A	A	G	rs200112613		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:155490896A>G	ENST00000302068.4	+	7	1252	c.1189A>G	c.(1189-1191)Atg>Gtg	p.M397V	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.M178V	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	397	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AAACAGGACCATGACCATTCA	0.458																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1189-1191)Atg>Gtg		fibrinogen beta chain	Sucralfate(DB00364)						167.0	137.0	147.0					4																	155490896		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155490896A>G		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.1189A>G	4.37:g.155490896A>G	ENSP00000306099:p.Met397Val					FGB_ENST00000509493.1_Missense_Mutation_p.M178V|FGB_ENST00000502545.1_Intron	p.M397V	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			7	1252	+	all_hematologic(180;0.215)	Renal(120;0.0458)	397			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.1189A>G	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.115710	0.77323	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.77489	-1.1;-1.1	5.73	5.73	0.89815	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.89206	0.6649	M	0.87758	2.905	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.79108	0.992;0.982	D	0.89337	0.3651	10	0.40728	T	0.16	.	16.3123	0.82883	1.0:0.0:0.0:0.0	.	380;397	B4E1D3;P02675	.;FIBB_HUMAN	V	397;380;178	ENSP00000306099:M397V;ENSP00000426757:M178V	ENSP00000306099:M397V	M	+	1	0	FGB	155710346	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.248000	0.95456	2.308000	0.77769	0.533000	0.62120	ATG		0.458	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		22	61	0	0	0	1	0	22	61				
SLC2A12	154091	broad.mit.edu	37	6	134350163	134350163	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:134350163T>C	ENST00000275230.5	-	2	955	c.800A>G	c.(799-801)gAt>gGt	p.D267G		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	267					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		ACGAAACAGATCCCAAAAACT	0.388																																					Melanoma(122;1663 1672 14489 35294 41228)	ENST00000275230.5																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(799-801)gAt>gGt		solute carrier family 2 (facilitated glucose transporter), member 12							86.0	83.0	84.0					6																	134350163		2203	4300	6503	SO:0001583	missense	154091					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	g.chr6:134350163T>C	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.800A>G	6.37:g.134350163T>C	ENSP00000275230:p.Asp267Gly						p.D267G	NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)	2	955	-	Breast(56;0.214)|Colorectal(23;0.221)		267					B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	37	c.800A>G	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909908	0.72983	.	.	ENSG00000146411	ENST00000275230	T	0.73469	-0.75	5.4	5.4	0.78164	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.049395	0.85682	D	0.000000	T	0.58991	0.2161	L	0.52573	1.65	0.80722	D	1	B	0.27117	0.168	B	0.29524	0.103	T	0.60816	-0.7188	10	0.34782	T	0.22	-21.0432	15.4233	0.75031	0.0:0.0:0.0:1.0	.	267	Q8TD20	GTR12_HUMAN	G	267	ENSP00000275230:D267G	ENSP00000275230:D267G	D	-	2	0	SLC2A12	134391856	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.698000	0.84413	2.055000	0.61198	0.383000	0.25322	GAT		0.388	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			4	89	0	0	0	1	0	4	89				
HHEX	3087	broad.mit.edu	37	10	94452165	94452165	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:94452165G>A	ENST00000282728.5	+	2	2201	c.402G>A	c.(400-402)ctG>ctA	p.L134L	HHEX_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_5'UTR	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	134					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						AGAGGCCTCTGCATAAAAGGA	0.597																																						ENST00000282728.5																			0				kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						c.(400-402)ctG>ctA		hematopoietically expressed homeobox							48.0	57.0	54.0					10																	94452165		2203	4300	6503	SO:0001819	synonymous_variant	3087				anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding	g.chr10:94452165G>A	Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"""Homeoboxes / ANTP class : NKL subclass"""	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.402G>A	10.37:g.94452165G>A						HHEX_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_5'UTR	p.L134L	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN			2	2201	+			134					B1AQ17|Q96CE9	Silent	SNP	ENST00000282728.5	37	c.402G>A	CCDS7423.1																																																																																				0.597	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049402.2			4	111	0	0	0	1	0	4	111				
GRIN3A	116443	broad.mit.edu	37	9	104335655	104335655	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:104335655G>A	ENST00000361820.3	-	9	3749	c.3149C>T	c.(3148-3150)cCa>cTa	p.P1050L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1050					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TCTTCTCCTTGGAGGGAGGGG	0.527																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(3148-3150)cCa>cTa		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						133.0	121.0	125.0					9																	104335655		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104335655G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.3149C>T	9.37:g.104335655G>A	ENSP00000355155:p.Pro1050Leu						p.P1050L	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			9	3749	-		Acute lymphoblastic leukemia(62;0.0568)	1050					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.3149C>T	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922565	0.33908	.	.	ENSG00000198785	ENST00000361820	T	0.10192	2.9	5.46	2.54	0.30619	.	2.270040	0.01246	N	0.008753	T	0.10594	0.0259	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26018	-1.0115	10	0.45353	T	0.12	.	6.958	0.24582	0.1406:0.0:0.5211:0.3383	.	1050	Q8TCU5	NMD3A_HUMAN	L	1050	ENSP00000355155:P1050L	ENSP00000355155:P1050L	P	-	2	0	GRIN3A	103375476	0.005000	0.15991	0.015000	0.15790	0.929000	0.56500	0.721000	0.25911	0.763000	0.33175	0.655000	0.94253	CCA		0.527	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			32	112	0	0	0	1	0	32	112				
NPFFR2	10886	broad.mit.edu	37	4	72994604	72994604	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:72994604T>C	ENST00000308744.6	+	2	700	c.602T>C	c.(601-603)aTg>aCg	p.M201T	NPFFR2_ENST00000395999.1_Missense_Mutation_p.M102T|NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000358749.3_Missense_Mutation_p.M99T	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	201					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ATATTCTGCATGCCTATAACA	0.368																																						ENST00000308744.6																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(601-603)aTg>aCg		neuropeptide FF receptor 2							127.0	122.0	124.0					4																	72994604		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72994604T>C	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.602T>C	4.37:g.72994604T>C	ENSP00000307822:p.Met201Thr					NPFFR2_ENST00000358749.3_Missense_Mutation_p.M99T|NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000395999.1_Missense_Mutation_p.M102T	p.M201T	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		2	700	+			201					Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.602T>C	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	T	19.45	3.830560	0.71258	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.73469	-0.75;-0.75;-0.75	5.75	5.75	0.90469	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.81221	0.4777	M	0.65320	2	0.80722	D	1	P;P	0.51240	0.929;0.943	P;P	0.57548	0.729;0.823	T	0.78478	-0.2188	10	0.25106	T	0.35	.	15.7296	0.77790	0.0:0.0:0.0:1.0	.	102;201	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	T	201;102;99	ENSP00000307822:M201T;ENSP00000379321:M102T;ENSP00000351599:M99T	ENSP00000307822:M201T	M	+	2	0	NPFFR2	73213468	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.870000	0.87175	2.188000	0.69820	0.528000	0.53228	ATG		0.368	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		30	92	0	0	0	1	0	30	92				
TIGD4	201798	broad.mit.edu	37	4	153691769	153691769	+	Missense_Mutation	SNP	T	T	C	rs572232165		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:153691769T>C	ENST00000304337.2	-	2	1208	c.388A>G	c.(388-390)Aat>Gat	p.N130D		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	130	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AGCCAACCATTACTGCACTTA	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		18413	0.0		0.0	False		,,,				2504	0.001					ENST00000304337.2																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(388-390)Aat>Gat		tigger transposable element derived 4							75.0	74.0	75.0					4																	153691769		2203	4300	6503	SO:0001583	missense	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153691769T>C	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.388A>G	4.37:g.153691769T>C	ENSP00000355162:p.Asn130Asp						p.N130D	NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN			2	1208	-	all_hematologic(180;0.093)		130			HTH CENPB-type.		Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	37	c.388A>G	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.308805	0.23821	.	.	ENSG00000169989	ENST00000304337	T	0.17213	2.29	6.17	6.17	0.99709	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.56097	D	0.000038	T	0.23611	0.0571	M	0.64170	1.965	0.44736	D	0.997739	P	0.34934	0.476	B	0.40165	0.321	T	0.03576	-1.1023	10	0.12103	T	0.63	-33.7319	16.4957	0.84242	0.0:0.0:0.0:1.0	.	130	Q8IY51	TIGD4_HUMAN	D	130	ENSP00000355162:N130D	ENSP00000355162:N130D	N	-	1	0	TIGD4	153911219	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.613000	0.67688	2.371000	0.80710	0.533000	0.62120	AAT		0.413	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		23	86	0	0	0	1	0	23	86				
CLUL1	27098	broad.mit.edu	37	18	645095	645095	+	Silent	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:645095C>A	ENST00000400606.2	+	8	1540	c.1395C>A	c.(1393-1395)acC>acA	p.T465T	CLUL1_ENST00000338387.7_Silent_p.T465T|CLUL1_ENST00000579494.1_Silent_p.T465T|CLUL1_ENST00000581619.1_Silent_p.T490T|CLUL1_ENST00000540035.1_Silent_p.T517T|C18orf56_ENST00000585033.1_Intron	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	465					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						ATTTTAAAACCTGGTAAGCAG	0.388																																						ENST00000581619.1																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						c.(1468-1470)acC>acA		clusterin-like 1 (retinal)							69.0	63.0	65.0					18																	645095		1845	4086	5931	SO:0001819	synonymous_variant	27098				cell death	extracellular region		g.chr18:645095C>A	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.1395C>A	18.37:g.645095C>A						CLUL1_ENST00000338387.7_Silent_p.T465T|CLUL1_ENST00000400606.2_Silent_p.T465T|CLUL1_ENST00000579494.1_Silent_p.T465T|C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000540035.1_Silent_p.T517T	p.T490T			Q15846	CLUL1_HUMAN			8	2317	+			465					A0FDN7	Silent	SNP	ENST00000400606.2	37	c.1470C>A	CCDS42405.1																																																																																				0.388	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			16	63	1	0	4.14922e-12	1	4.31867e-12	16	63				
FRS2	10818	broad.mit.edu	37	12	69968254	69968254	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:69968254A>G	ENST00000550389.1	+	7	1292	c.1046A>G	c.(1045-1047)tAt>tGt	p.Y349C	FRS2_ENST00000299293.2_Missense_Mutation_p.Y349C|FRS2_ENST00000397997.2_Missense_Mutation_p.Y349C|FRS2_ENST00000549921.1_Missense_Mutation_p.Y349C	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	349					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTATTAAACTATGAAAATCTA	0.458																																						ENST00000299293.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1045-1047)tAt>tGt		fibroblast growth factor receptor substrate 2							66.0	64.0	64.0					12																	69968254		1874	4116	5990	SO:0001583	missense	10818				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr12:69968254A>G	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.1046A>G	12.37:g.69968254A>G	ENSP00000447241:p.Tyr349Cys					FRS2_ENST00000397997.2_Missense_Mutation_p.Y349C|FRS2_ENST00000549921.1_Missense_Mutation_p.Y349C|FRS2_ENST00000550389.1_Missense_Mutation_p.Y349C	p.Y349C	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		10	1556	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		349					B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	c.1046A>G	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	A	18.21	3.573253	0.65765	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	6.04	6.04	0.98038	.	0.112013	0.64402	D	0.000005	T	0.64627	0.2615	L	0.52905	1.665	0.58432	D	0.999996	D	0.76494	0.999	D	0.77557	0.99	T	0.62134	-0.6918	9	.	.	.	-11.4473	16.6244	0.84952	1.0:0.0:0.0:0.0	.	349	Q8WU20	FRS2_HUMAN	C	349	ENSP00000299293:Y349C;ENSP00000450048:Y349C;ENSP00000447241:Y349C;ENSP00000381083:Y349C	.	Y	+	2	0	FRS2	68254521	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.690000	0.91272	2.323000	0.78572	0.529000	0.55759	TAT		0.458	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		4	138	0	0	0	1	0	4	138				
LILRA1	11024	broad.mit.edu	37	19	55105247	55105247	+	Splice_Site	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:55105247G>A	ENST00000251372.3	+	1	134		c.e1+1		LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_Splice_Site|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Splice_Site	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GACTGCCATGGTAAGGACCCC	0.577																																						ENST00000453777.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.e1+1		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1																																				SO:0001630	splice_region_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55105247G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.-49+1G>A	19.37:g.55105247G>A						LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_Splice_Site|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Splice_Site		NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	1	122	+								O75018|Q3MJA6	Splice_Site	SNP	ENST00000251372.3	37		CCDS12901.1																																																																																				0.577	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863	Intron	4	9	0	0	0	1	0	4	9				
CYP2D7	1564	broad.mit.edu	37	22	42539506	42539506	+	RNA	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:42539506G>A	ENST00000358097.4	-	0	342				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA																endometrium(1)	1						CTCGCGCACGGCCGCCAGCCC	0.726																																					GBM(91;329 1845 13264 22235)	ENST00000358097.4																			0				endometrium(1)	1																																														1564							g.chr22:42539506G>A																													22.37:g.42539506G>A						CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA								0	342	-									RNA	SNP	ENST00000358097.4	37			.	.	.	.	.	.	.	.	.	.	G	5.977	0.364179	0.11296	.	.	ENSG00000205702	ENST00000428297;ENST00000354609;ENST00000381321	.	.	.	3.68	3.68	0.42216	.	0.235280	0.37136	N	0.002233	T	0.43211	0.1237	.	.	.	0.24911	N	0.992047	.	.	.	.	.	.	T	0.31779	-0.9931	6	0.39692	T	0.17	.	11.6994	0.51562	0.0:0.0:1.0:0.0	.	.	.	.	V	85;85;35	.	ENSP00000442416:A85V	A	-	2	0	CYP2D7P1	40869450	0.126000	0.22350	0.010000	0.14722	0.603000	0.37013	2.955000	0.49121	2.011000	0.59026	0.508000	0.49915	GCC		0.726	CYP2D7P1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000075076.3			4	6	0	0	0	1	0	4	6				
DIS3	22894	broad.mit.edu	37	13	73346903	73346903	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:73346903A>G	ENST00000377767.4	-	9	1414	c.1314T>C	c.(1312-1314)gaT>gaC	p.D438D	DIS3_ENST00000545453.1_Silent_p.D276D|DIS3_ENST00000377780.4_Silent_p.D408D	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	438					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		GATGGGGAACATCGTGTTCAA	0.388										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(1312-1314)gaT>gaC		DIS3 mitotic control homolog (S. cerevisiae)							124.0	125.0	124.0					13																	73346903		2203	4300	6503	SO:0001819	synonymous_variant	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73346903A>G	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1314T>C	13.37:g.73346903A>G		Multiple Myeloma(4;0.011)				DIS3_ENST00000545453.1_Silent_p.D276D|DIS3_ENST00000377780.4_Silent_p.D408D	p.D438D	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	9	1414	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	438					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Silent	SNP	ENST00000377767.4	37	c.1314T>C	CCDS9447.1																																																																																				0.388	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		29	83	0	0	0	1	0	29	83				
LINC01317	104355287	broad.mit.edu	37	2	33952131	33952131	+	lincRNA	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:33952131C>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							ACCAGGTGGGCAGAGTACACC	0.552																																						ENST00000366209.2																			0																																																			104355287							g.chr2:33952131C>T																													2.37:g.33952131C>T						MYADML_ENST00000474610.1_RNA								0	68	+									RNA	SNP	ENST00000366209.2	37																																																																																						0.552	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1			6	19	0	0	0	1	0	6	19				
SOX6	55553	broad.mit.edu	37	11	16010593	16010593	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:16010593A>T	ENST00000352083.6	-	14	1993	c.1916T>A	c.(1915-1917)aTc>aAc	p.I639N	SOX6_ENST00000396356.3_Missense_Mutation_p.I619N|SOX6_ENST00000528252.1_Missense_Mutation_p.I612N|SOX6_ENST00000316399.6_Missense_Mutation_p.I619N|SOX6_ENST00000527619.1_Missense_Mutation_p.I615N|SOX6_ENST00000528429.1_Missense_Mutation_p.I639N			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	639					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|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)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GGCCTGAAGGATTTTTCTCCT	0.517											OREG0020800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(1915-1917)aTc>aAc		SRY (sex determining region Y)-box 6							202.0	188.0	193.0					11																	16010593		2200	4294	6494	SO:0001583	missense	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16010593A>T	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1916T>A	11.37:g.16010593A>T	ENSP00000339876:p.Ile639Asn		OREG0020800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	707	SOX6_ENST00000316399.6_Missense_Mutation_p.I619N|SOX6_ENST00000528252.1_Missense_Mutation_p.I612N|SOX6_ENST00000396356.3_Missense_Mutation_p.I619N|SOX6_ENST00000527619.1_Missense_Mutation_p.I615N|SOX6_ENST00000528429.1_Missense_Mutation_p.I639N	p.I639N			P35712	SOX6_HUMAN			14	1993	-			639					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37	c.1916T>A		.	.	.	.	.	.	.	.	.	.	A	25.5	4.648755	0.87958	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89;-4.89;-4.89	5.72	5.72	0.89469	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.99372	0.9779	H	0.97540	4.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.97110	0.999;1.0;0.989	D	0.98481	1.0605	10	0.87932	D	0	.	16.0023	0.80306	1.0:0.0:0.0:0.0	.	619;639;615	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	N	619;639;619;612;615;639	ENSP00000324948:I619N;ENSP00000339876:I639N;ENSP00000379644:I619N;ENSP00000432134:I612N;ENSP00000434455:I615N;ENSP00000433233:I639N	ENSP00000324948:I619N	I	-	2	0	SOX6	15967169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.177000	0.69029	0.533000	0.62120	ATC		0.517	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		18	184	0	0	0	1	0	18	184				
ZMYND8	23613	broad.mit.edu	37	20	45875172	45875172	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:45875172A>G	ENST00000311275.7	-	14	2057	c.1804T>C	c.(1804-1806)Tat>Cat	p.Y602H	ZMYND8_ENST00000458360.2_Missense_Mutation_p.Y597H|ZMYND8_ENST00000262975.4_Missense_Mutation_p.Y602H|ZMYND8_ENST00000355972.4_Missense_Mutation_p.Y602H|ZMYND8_ENST00000471951.2_Missense_Mutation_p.Y622H|ZMYND8_ENST00000540497.1_Missense_Mutation_p.Y550H|ZMYND8_ENST00000396281.4_Missense_Mutation_p.Y602H|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000446994.2_Missense_Mutation_p.Y539H|ZMYND8_ENST00000461685.1_Missense_Mutation_p.Y622H|ZMYND8_ENST00000352431.2_Missense_Mutation_p.Y622H|ZMYND8_ENST00000360911.3_Missense_Mutation_p.Y597H|ZMYND8_ENST00000536340.1_Missense_Mutation_p.Y629H|ZMYND8_ENST00000372023.3_Missense_Mutation_p.Y597H	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	602					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCACTGATATACTCACTATCG	0.418																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(1804-1806)Tat>Cat		zinc finger, MYND-type containing 8							142.0	140.0	141.0					20																	45875172		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45875172A>G	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1804T>C	20.37:g.45875172A>G	ENSP00000312237:p.Tyr602His					ZMYND8_ENST00000458360.2_Missense_Mutation_p.Y597H|ZMYND8_ENST00000461685.1_Missense_Mutation_p.Y622H|ZMYND8_ENST00000355972.4_Missense_Mutation_p.Y602H|ZMYND8_ENST00000446994.2_Missense_Mutation_p.Y539H|ZMYND8_ENST00000352431.2_Missense_Mutation_p.Y622H|ZMYND8_ENST00000471951.2_Missense_Mutation_p.Y622H|ZMYND8_ENST00000360911.3_Missense_Mutation_p.Y597H|ZMYND8_ENST00000262975.4_Missense_Mutation_p.Y602H|ZMYND8_ENST00000372023.3_Missense_Mutation_p.Y597H|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Missense_Mutation_p.Y629H|ZMYND8_ENST00000540497.1_Missense_Mutation_p.Y550H|ZMYND8_ENST00000396281.4_Missense_Mutation_p.Y602H	p.Y602H			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		14	2057	-			602					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.1804T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.8|20.8	4.053916|4.053916	0.75960|0.75960	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|D;D;D;D;D;D;D;D;D;D;D	.|0.90955	.|-1.88;-1.82;-1.86;-1.77;-1.95;-1.84;-1.84;-2.76;-1.79;-1.88;-2.04	5.91|5.91	4.79|4.79	0.61399|0.61399	.|.	.|0.254751	.|0.40554	.|N	.|0.001065	D|D	0.92848|0.92848	0.7725|0.7725	L|L	0.53249|0.53249	1.67|1.67	0.37438|0.37438	D|D	0.914308|0.914308	.|D;P;P;P;D;D;P;P;D;P;P;P;P;P;P;P;D;P	.|0.76494	.|0.993;0.813;0.744;0.744;0.999;0.976;0.813;0.699;0.998;0.699;0.699;0.744;0.744;0.744;0.744;0.955;0.999;0.744	.|D;P;P;P;D;P;P;P;D;P;P;P;P;P;P;P;D;P	.|0.71870	.|0.942;0.694;0.797;0.781;0.975;0.905;0.694;0.674;0.958;0.674;0.674;0.797;0.857;0.781;0.797;0.66;0.975;0.797	D|D	0.91865|0.91865	0.5502|0.5502	5|10	.|0.23891	.|T	.|0.37	-0.3923|-0.3923	13.2098|13.2098	0.59817|0.59817	0.8671:0.1329:0.0:0.0|0.8671:0.1329:0.0:0.0	.|.	.|597;629;597;597;577;596;622;602;597;622;622;602;539;597;550;622;550;602	.|B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	A|H	529|597;602;597;603;623;622;602;629;602;539;622;597;550	.|ENSP00000354166:Y597H;ENSP00000312237:Y602H;ENSP00000392964:Y597H;ENSP00000335537:Y622H;ENSP00000379577:Y602H;ENSP00000439800:Y629H;ENSP00000348246:Y602H;ENSP00000396725:Y539H;ENSP00000418210:Y622H;ENSP00000361093:Y597H;ENSP00000443086:Y550H	.|ENSP00000262975:Y603H	V|Y	-|-	2|1	0|0	ZMYND8|ZMYND8	45308579|45308579	1.000000|1.000000	0.71417|0.71417	0.774000|0.774000	0.31636|0.31636	0.988000|0.988000	0.76386|0.76386	7.106000|7.106000	0.77039|0.77039	1.020000|1.020000	0.39573|0.39573	0.533000|0.533000	0.62120|0.62120	GTA|TAT		0.418	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		48	104	0	0	0	1	0	48	104				
AAGAB	79719	broad.mit.edu	37	15	67496391	67496391	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:67496391C>T	ENST00000261880.5	-	8	915	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	AAGAB_ENST00000542650.1_Missense_Mutation_p.E162K|AAGAB_ENST00000538028.1_5'UTR|AAGAB_ENST00000561452.1_Missense_Mutation_p.E162K	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	271					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCTTTCATTTCCTTTAACTTT	0.363																																						ENST00000261880.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(811-813)Gaa>Aaa		alpha- and gamma-adaptin binding protein							129.0	119.0	122.0					15																	67496391		1857	4115	5972	SO:0001583	missense	79719				protein transport	cytoplasm		g.chr15:67496391C>T	AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	ENST00000261880.5:c.811G>A	15.37:g.67496391C>T	ENSP00000261880:p.Glu271Lys					AAGAB_ENST00000542650.1_Missense_Mutation_p.E162K|AAGAB_ENST00000538028.1_5'UTR|AAGAB_ENST00000561452.1_Missense_Mutation_p.E162K	p.E271K	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN			8	915	-			271					B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Missense_Mutation	SNP	ENST00000261880.5	37	c.811G>A	CCDS42050.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052237	0.75960	.	.	ENSG00000103591	ENST00000261880;ENST00000538028;ENST00000542650	T;T	0.46063	0.88;0.9	5.44	5.44	0.79542	.	0.049812	0.85682	D	0.000000	T	0.48840	0.1522	L	0.51422	1.61	0.58432	D	0.999991	D	0.54964	0.969	P	0.55455	0.776	T	0.32981	-0.9886	10	0.07813	T	0.8	-24.7231	16.1796	0.81890	0.0:1.0:0.0:0.0	.	271	Q6PD74	AAGAB_HUMAN	K	271;31;162	ENSP00000261880:E271K;ENSP00000440735:E162K	ENSP00000261880:E271K	E	-	1	0	AAGAB	65283445	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.950000	0.63603	2.562000	0.86427	0.491000	0.48974	GAA		0.363	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1	NM_024666		7	22	0	0	0	1	0	7	22				
GPR98	84059	broad.mit.edu	37	5	90020655	90020655	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:90020655T>C	ENST00000405460.2	+	46	9851	c.9755T>C	c.(9754-9756)aTg>aCg	p.M3252T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3252					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAGGGGGAATGGATGTTGTG	0.299																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(9754-9756)aTg>aCg		G protein-coupled receptor 98							156.0	151.0	153.0					5																	90020655		1817	4071	5888	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90020655T>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.9755T>C	5.37:g.90020655T>C	ENSP00000384582:p.Met3252Thr						p.M3252T	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	46	9851	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3252					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.9755T>C	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.388|2.388	-0.340620|-0.340620	0.05243|0.05243	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.25414|.	1.8|.	5.83|5.83	3.38|3.38	0.38709|0.38709	.|.	0.646062|.	0.18008|.	N|.	0.154667|.	T|T	0.42607|0.42607	0.1210|0.1210	L|L	0.60455|0.60455	1.87|1.87	0.27995|0.27995	N|N	0.935512|0.935512	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.34551|0.34551	-0.9824|-0.9824	10|5	0.27785|.	T|.	0.31|.	.|.	5.5914|5.5914	0.17303|0.17303	0.0:0.2246:0.1764:0.5991|0.0:0.2246:0.1764:0.5991	.|.	3252;3252|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	T|R	3252|818	ENSP00000384582:M3252T|.	ENSP00000296619:M3252T|.	M|W	+|+	2|1	0|0	GPR98|GPR98	90056411|90056411	0.933000|0.933000	0.31639|0.31639	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.275000|1.275000	0.33144|0.33144	0.443000|0.443000	0.26582|0.26582	0.528000|0.528000	0.53228|0.53228	ATG|TGG		0.299	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		49	133	0	0	0	1	0	49	133				
CELF4	56853	broad.mit.edu	37	18	34850864	34850864	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:34850864C>T	ENST00000591282.1	-	8	965	c.966G>A	c.(964-966)ccG>ccA	p.P322P	CELF4_ENST00000412753.1_Silent_p.P321P|CELF4_ENST00000334919.5_Silent_p.P312P|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000603232.1_Silent_p.P321P|CELF4_ENST00000588597.1_Silent_p.P311P|CELF4_ENST00000591287.1_Silent_p.P321P|CELF4_ENST00000361795.5_Silent_p.P320P|CELF4_ENST00000420428.2_Silent_p.P322P|CELF4_ENST00000601019.1_Silent_p.P320P			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	322					alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CAGTGATGCCCGGAGGGGTGC	0.622																																						ENST00000420428.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(964-966)ccG>ccA		CUGBP, Elav-like family member 4							29.0	27.0	27.0					18																	34850864		2203	4300	6503	SO:0001819	synonymous_variant	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34850864C>T	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.966G>A	18.37:g.34850864C>T						CELF4_ENST00000361795.5_Silent_p.P320P|CELF4_ENST00000412753.1_Silent_p.P321P|CELF4_ENST00000334919.5_Silent_p.P312P|CELF4_ENST00000591282.1_Silent_p.P322P|CELF4_ENST00000603232.1_Silent_p.P321P|CELF4_ENST00000591287.1_Silent_p.P321P|CELF4_ENST00000601019.1_Silent_p.P320P|CELF4_ENST00000588597.1_Silent_p.P311P	p.P322P	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN			8	1361	-			322					Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	ENST00000591282.1	37	c.966G>A	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	C	9.462	1.093353	0.20471	.	.	ENSG00000101489	ENST00000361683	.	.	.	4.67	0.855	0.19013	.	.	.	.	.	T	0.59018	0.2163	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56589	-0.7954	5	0.87932	D	0	-15.4601	5.0798	0.14651	0.143:0.4555:0.0:0.4015	.	.	.	.	R	205	.	ENSP00000355189:G205R	G	-	1	0	CELF4	33104862	0.843000	0.29541	0.998000	0.56505	0.974000	0.67602	-0.095000	0.11077	-0.031000	0.13781	-0.253000	0.11424	GGG		0.622	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		7	25	0	0	0	1	0	7	25				
SPATS2	65244	broad.mit.edu	37	12	49888751	49888751	+	Silent	SNP	C	C	T	rs200315994	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:49888751C>T	ENST00000553127.1	+	8	1005	c.492C>T	c.(490-492)ccC>ccT	p.P164P	SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000321898.6_Silent_p.P164P|SPATS2_ENST00000552918.1_Silent_p.P164P			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	164						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						TGGAGGATCCCGAGTCTGCCA	0.438																																						ENST00000553127.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						c.(490-492)ccC>ccT		spermatogenesis associated, serine-rich 2							99.0	94.0	95.0					12																	49888751		2203	4300	6503	SO:0001819	synonymous_variant	65244					cytoplasm		g.chr12:49888751C>T	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.492C>T	12.37:g.49888751C>T						SPATS2_ENST00000552918.1_Silent_p.P164P|SPATS2_ENST00000321898.6_Silent_p.P164P|SPATS2_ENST00000552557.1_3'UTR	p.P164P			Q86XZ4	SPAS2_HUMAN			8	1005	+			164					A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Silent	SNP	ENST00000553127.1	37	c.492C>T	CCDS31794.1																																																																																				0.438	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071		12	100	0	0	0	1	0	12	100				
BRD3	8019	broad.mit.edu	37	9	136907048	136907048	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:136907048T>C	ENST00000303407.7	-	8	1426	c.1241A>G	c.(1240-1242)aAg>aGg	p.K414R	BRD3_ENST00000371834.2_Missense_Mutation_p.K414R|BRD3_ENST00000357885.2_Missense_Mutation_p.K414R|BRD3_ENST00000473349.1_5'Flank	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	414					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		ATCTGGCATCTTGGCAAACCT	0.652			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(1240-1242)aAg>aGg		bromodomain containing 3							24.0	28.0	27.0					9																	136907048		2203	4300	6503	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136907048T>C		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1241A>G	9.37:g.136907048T>C	ENSP00000305918:p.Lys414Arg					BRD3_ENST00000371834.2_Missense_Mutation_p.K414R|BRD3_ENST00000357885.2_Missense_Mutation_p.K414R	p.K414R	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	8	1426	-			414					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.1241A>G	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.035992	0.75617	.	.	ENSG00000169925	ENST00000303407;ENST00000540795;ENST00000371834;ENST00000357885	T;T;T	0.20069	2.1;2.1;2.1	4.85	4.85	0.62838	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.32315	0.0825	M	0.89214	3.015	0.58432	D	0.999998	B;B	0.33238	0.403;0.057	B;B	0.30646	0.118;0.014	T	0.33777	-0.9855	10	0.66056	D	0.02	-31.2828	13.5937	0.61975	0.0:0.0:0.0:1.0	.	414;414	Q15059-2;Q15059	.;BRD3_HUMAN	R	414;93;414;414	ENSP00000305918:K414R;ENSP00000360900:K414R;ENSP00000350557:K414R	ENSP00000305918:K414R	K	-	2	0	BRD3	135896869	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	7.795000	0.85887	1.797000	0.52628	0.379000	0.24179	AAG		0.652	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		5	28	0	0	0	1	0	5	28				
LILRA5	353514	broad.mit.edu	37	19	54822643	54822643	+	Intron	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54822643G>A	ENST00000301219.3	-	5	832				LILRA5_ENST00000432233.3_Silent_p.S251S|LILRA5_ENST00000346508.3_Intron|LILRA5_ENST00000446712.3_Silent_p.S239S|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5						innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AACCTGTCTGGCTTCCCTGAA	0.517																																						ENST00000446712.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(715-717)agC>agT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5							72.0	72.0	72.0					19																	54822643		2203	4300	6503	SO:0001627	intron_variant	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54822643G>A	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.712+40C>T	19.37:g.54822643G>A						LILRA5_ENST00000346508.3_Intron|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Silent_p.S251S|LILRA5_ENST00000301219.3_Intron	p.S239S	NM_181986.2	NP_871715.1	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	795	-	Ovarian(34;0.19)		0					A6NHI3	Silent	SNP	ENST00000301219.3	37	c.717C>T	CCDS12888.1																																																																																				0.517	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		25	71	0	0	0	1	0	25	71				
BRAF	673	broad.mit.edu	37	7	140487363	140487363	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:140487363A>G	ENST00000288602.6	-	9	1222	c.1162T>C	c.(1162-1164)Ttt>Ctt	p.F388L		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	388					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCACCACGAAATCCTTGGTCT	0.338		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	0				NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1162-1164)Ttt>Ctt		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						104.0	111.0	109.0					7																	140487363		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140487363A>G	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1162T>C	7.37:g.140487363A>G	ENSP00000288602:p.Phe388Leu						p.F388L	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			9	1222	-	Melanoma(164;0.00956)		388					A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1162T>C	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	A	7.794	0.712113	0.15306	.	.	ENSG00000157764	ENST00000288602	T	0.72835	-0.69	5.65	5.65	0.86999	.	0.116691	0.56097	D	0.000026	T	0.35711	0.0941	N	0.01640	-0.785	0.36294	D	0.856593	B	0.02656	0.0	B	0.01281	0.0	T	0.46898	-0.9158	10	0.02654	T	1	.	7.5266	0.27658	0.7851:0.143:0.0719:0.0	.	388	P15056	BRAF_HUMAN	L	388	ENSP00000288602:F388L	ENSP00000288602:F388L	F	-	1	0	BRAF	140133832	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.259000	0.51515	2.166000	0.68216	0.460000	0.39030	TTT		0.338	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	113	0	0	0	1	0	16	113				
UBE3C	9690	broad.mit.edu	37	7	156979697	156979697	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:156979697T>C	ENST00000348165.5	+	10	1673	c.1313T>C	c.(1312-1314)aTg>aCg	p.M438T	UBE3C_ENST00000389103.4_Missense_Mutation_p.M395T	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	438					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CAGCACCGCATGATGGTACCC	0.597																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(1312-1314)aTg>aCg		ubiquitin protein ligase E3C							58.0	40.0	46.0					7																	156979697		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156979697T>C	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1313T>C	7.37:g.156979697T>C	ENSP00000309198:p.Met438Thr					UBE3C_ENST00000389103.4_Missense_Mutation_p.M395T	p.M438T	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	10	1673	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	438					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.1313T>C	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.076727	0.55753	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.43688	0.94	5.66	5.66	0.87406	.	0.082560	0.85682	D	0.000000	T	0.37073	0.0990	L	0.51422	1.61	0.58432	D	0.999999	B;B;B	0.29253	0.239;0.082;0.185	B;B;B	0.25987	0.065;0.034;0.049	T	0.16689	-1.0394	10	0.13853	T	0.58	-23.7076	15.8936	0.79318	0.0:0.0:0.0:1.0	.	438;438;395	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	T	438;395	ENSP00000309198:M438T	ENSP00000309198:M438T	M	+	2	0	UBE3C	156672458	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	7.739000	0.84976	2.156000	0.67533	0.533000	0.62120	ATG		0.597	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		7	20	0	0	0	1	0	7	20				
KIF1C	10749	broad.mit.edu	37	17	4925505	4925505	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:4925505G>A	ENST00000320785.5	+	22	2486	c.2129G>A	c.(2128-2130)cGc>cAc	p.R710H	KIF1C_ENST00000573815.1_3'UTR|AC109333.10_ENST00000438266.1_RNA	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	710					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						ATTGTCAAACGCTGTGGTCTG	0.647																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			0				NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(2128-2130)cGc>cAc		kinesin family member 1C							32.0	34.0	33.0					17																	4925505		2203	4300	6503	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4925505G>A	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2129G>A	17.37:g.4925505G>A	ENSP00000320821:p.Arg710His					KIF1C_ENST00000573815.1_3'UTR	p.R710H	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			22	2486	+			710					D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.2129G>A	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579827	0.65992	.	.	ENSG00000129250	ENST00000320785	T	0.74632	-0.86	4.87	4.87	0.63330	.	.	.	.	.	T	0.69024	0.3065	L	0.34521	1.04	0.41732	D	0.989565	D	0.67145	0.996	P	0.46320	0.512	T	0.72887	-0.4156	9	0.51188	T	0.08	.	15.5424	0.76062	0.0:0.0:1.0:0.0	.	710	O43896	KIF1C_HUMAN	H	710	ENSP00000320821:R710H	ENSP00000320821:R710H	R	+	2	0	KIF1C	4866229	0.575000	0.26692	1.000000	0.80357	0.960000	0.62799	0.892000	0.28322	2.543000	0.85770	0.655000	0.94253	CGC		0.647	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			17	56	0	0	0	1	0	17	56				
SHKBP1	92799	broad.mit.edu	37	19	41089339	41089339	+	Silent	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41089339G>T	ENST00000291842.5	+	11	1045	c.996G>T	c.(994-996)gcG>gcT	p.A332A	SHKBP1_ENST00000600733.1_Silent_p.A307A	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	332					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTTATGACGCGGCAGGCTCCT	0.652																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(994-996)gcG>gcT		SH3KBP1 binding protein 1							35.0	31.0	32.0					19																	41089339		2203	4298	6501	SO:0001819	synonymous_variant	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41089339G>T	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.996G>T	19.37:g.41089339G>T						SHKBP1_ENST00000600733.1_Silent_p.A307A	p.A332A	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		11	1045	+			332					Q8N2I6|Q8WY93|Q96IB8	Silent	SNP	ENST00000291842.5	37	c.996G>T	CCDS12560.1																																																																																				0.652	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		6	11	1	0	3.59834e-05	1	3.66827e-05	6	11				
UBE4B	10277	broad.mit.edu	37	1	10231324	10231324	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:10231324A>G	ENST00000253251.8	+	24	3914	c.3075A>G	c.(3073-3075)caA>caG	p.Q1025Q	UBE4B_ENST00000377157.3_Silent_p.Q909Q|UBE4B_ENST00000343090.6_Silent_p.Q1154Q					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGTTGGACCAACTGACGGATA	0.473																																						ENST00000377157.3																			0				NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2725-2727)caA>caG		ubiquitination factor E4B							131.0	131.0	131.0					1																	10231324		2203	4300	6503	SO:0001819	synonymous_variant	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10231324A>G	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.3075A>G	1.37:g.10231324A>G						UBE4B_ENST00000343090.6_Silent_p.Q1154Q|UBE4B_ENST00000253251.8_Silent_p.Q1025Q	p.Q909Q	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	24	3788	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1154						Silent	SNP	ENST00000253251.8	37	c.2727A>G	CCDS110.1																																																																																				0.473	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		43	137	0	0	0	1	0	43	137				
FBN2	2201	broad.mit.edu	37	5	127599186	127599186	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:127599186T>C	ENST00000508053.1	-	69	9097	c.8123A>G	c.(8122-8124)tAc>tGc	p.Y2708C	FBN2_ENST00000262464.4_Missense_Mutation_p.Y2708C			P35556	FBN2_HUMAN	fibrillin 2	2708	EGF-like 47; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGAGCAGCCGTAATTGCAGGG	0.597																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(8122-8124)tAc>tGc		fibrillin 2							108.0	107.0	107.0					5																	127599186		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127599186T>C	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.8123A>G	5.37:g.127599186T>C	ENSP00000424571:p.Tyr2708Cys					FBN2_ENST00000262464.4_Missense_Mutation_p.Y2708C	p.Y2708C			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	69	9097	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2708			EGF-like 47; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.8123A>G	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.668673	0.67814	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.87334	-2.24;-2.24	5.23	4.01	0.46588	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.121827	0.37219	N	0.002196	D	0.90290	0.6963	L	0.58510	1.815	0.46823	D	0.99921	D	0.76494	0.999	D	0.67900	0.954	D	0.89232	0.3578	10	0.40728	T	0.16	.	11.6043	0.51022	0.1328:0.0:0.0:0.8672	.	2708	P35556	FBN2_HUMAN	C	2708	ENSP00000262464:Y2708C;ENSP00000424571:Y2708C	ENSP00000262464:Y2708C	Y	-	2	0	FBN2	127627085	0.986000	0.35501	0.963000	0.40424	0.984000	0.73092	2.011000	0.40922	2.182000	0.69389	0.528000	0.53228	TAC		0.597	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		65	188	0	0	0	1	0	65	188				
PCDHA8	56140	broad.mit.edu	37	5	140221772	140221772	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140221772T>C	ENST00000531613.1	+	1	866	c.866T>C	c.(865-867)gTt>gCt	p.V289A	PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V289A|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	289	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAACTATGGTTATTGACCAC	0.378																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(865-867)gTt>gCt									70.0	74.0	73.0					5																	140221772		2203	4299	6502	SO:0001583	missense	56140							g.chr5:140221772T>C	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.866T>C	5.37:g.140221772T>C	ENSP00000434655:p.Val289Ala					PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V289A|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.V289A	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	866	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.866T>C	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	T	8.920	0.960847	0.18583	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.01228	5.14;5.14	3.83	3.83	0.44106	Cadherin (4);Cadherin-like (1);	1.327860	0.05985	U	0.644945	T	0.02380	0.0073	L	0.42529	1.33	0.09310	N	1	B;B	0.31026	0.227;0.304	B;B	0.32762	0.152;0.094	T	0.48281	-0.9049	10	0.39692	T	0.17	.	10.4527	0.44531	0.0:0.0:0.2575:0.7424	.	289;289	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	A	289	ENSP00000434655:V289A;ENSP00000367363:V289A	ENSP00000367363:V289A	V	+	2	0	PCDHA8	140201956	0.014000	0.17966	0.001000	0.08648	0.009000	0.06853	1.170000	0.31883	1.507000	0.48752	0.456000	0.33151	GTT		0.378	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		29	88	0	0	0	1	0	29	88				
RBMXL2	27288	broad.mit.edu	37	11	7111242	7111242	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:7111242G>A	ENST00000306904.5	+	1	1078	c.891G>A	c.(889-891)ggG>ggA	p.G297G		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	297	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G297V(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGGACGGGGGACACCGCCAT	0.657																																						ENST00000306904.5																			1	Substitution - Missense(1)	p.G297V(1)	lung(1)	NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(889-891)ggG>ggA		RNA binding motif protein, X-linked-like 2							16.0	20.0	19.0					11																	7111242		2192	4288	6480	SO:0001819	synonymous_variant	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7111242G>A	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.891G>A	11.37:g.7111242G>A							p.G297G	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	1078	+			297			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Silent	SNP	ENST00000306904.5	37	c.891G>A	CCDS7777.1																																																																																				0.657	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		17	33	0	0	0	1	0	17	33				
KY	339855	broad.mit.edu	37	3	134338061	134338061	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:134338061T>G	ENST00000423778.2	-	8	700	c.639A>C	c.(637-639)aaA>aaC	p.K213N	KY_ENST00000508956.1_Missense_Mutation_p.K192N|KY_ENST00000503669.1_Missense_Mutation_p.K213N|KY_ENST00000508041.1_5'UTR	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	213					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TGTCAGTGGGTTTGAAGGCTT	0.557																																						ENST00000508956.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(574-576)aaA>aaC		kyphoscoliosis peptidase							167.0	172.0	170.0					3																	134338061		2120	4229	6349	SO:0001583	missense	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134338061T>G	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.639A>C	3.37:g.134338061T>G	ENSP00000397598:p.Lys213Asn					KY_ENST00000503669.1_Missense_Mutation_p.K213N|KY_ENST00000423778.2_Missense_Mutation_p.K213N|KY_ENST00000508041.1_5'UTR	p.K192N			Q8NBH2	KY_HUMAN			7	633	-			213					B7Z1S4|Q6ZT15	Missense_Mutation	SNP	ENST00000423778.2	37	c.576A>C	CCDS46920.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.053919	0.55218	.	.	ENSG00000174611	ENST00000508956;ENST00000423778;ENST00000503669;ENST00000310263	T;T;T	0.20332	2.08;2.08;2.08	4.08	-2.97	0.05530	.	0.199319	0.42294	D	0.000730	T	0.19846	0.0477	N	0.17345	0.48	0.34730	D	0.729613	D;D;D	0.58970	0.958;0.984;0.96	P;D;P	0.64042	0.58;0.921;0.673	T	0.13442	-1.0509	10	0.26408	T	0.33	-13.7594	9.4775	0.38880	0.1093:0.6684:0.0:0.2223	.	192;213;213	Q8NBH2-3;B4DGA7;Q8NBH2-4	.;.;.	N	192;213;213;213	ENSP00000421297:K192N;ENSP00000397598:K213N;ENSP00000426777:K213N	ENSP00000309520:K213N	K	-	3	2	KY	135820751	0.758000	0.28405	0.534000	0.28014	0.971000	0.66376	-0.492000	0.06467	-0.876000	0.04017	0.379000	0.24179	AAA		0.557	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		48	92	0	0	0	1	0	48	92				
SDHAF2	54949	broad.mit.edu	37	11	61213520	61213520	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:61213520T>C	ENST00000301761.2	+	4	552	c.478T>C	c.(478-480)Tac>Cac	p.Y160H	SDHAF2_ENST00000537782.1_3'UTR|RN7SL23P_ENST00000484055.2_RNA|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.Y148H|SDHAF2_ENST00000543265.1_3'UTR|RP11-286N22.8_ENST00000544880.1_Intron|SDHAF2_ENST00000542074.1_3'UTR	NM_017841.2	NP_060311.1			succinate dehydrogenase complex assembly factor 2											large_intestine(3)|lung(4)|ovary(2)	9						AGATCTTGAGTACCTCTTTGA	0.488											OREG0021000	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301761.2																			0				large_intestine(3)|lung(4)|ovary(2)	9						c.(478-480)Tac>Cac		succinate dehydrogenase complex assembly factor 2							95.0	94.0	95.0					11																	61213520		2202	4299	6501	SO:0001583	missense	54949				mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding	g.chr11:61213520T>C	AK000494	CCDS8007.1	11q12.2	2014-09-17	2009-08-10	2009-08-10	ENSG00000167985	ENSG00000167985		"""Mitochondrial respiratory chain complex assembly factors"""	26034	protein-coding gene	gene with protein product		613019	"""paraganglioma or familial glomus tumors 2"", ""chromosome 11 open reading frame 79"""	PGL2, C11orf79		19628817	Standard	NM_017841		Approved	FLJ20487, SDH5	uc001nrt.3	Q9NX18	OTTHUMG00000168279	ENST00000301761.2:c.478T>C	11.37:g.61213520T>C	ENSP00000301761:p.Tyr160His		OREG0021000	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1052	SDHAF2_ENST00000537782.1_3'UTR|RP11-286N22.8_ENST00000544880.1_Intron|SDHAF2_ENST00000543265.1_3'UTR|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.Y148H|SDHAF2_ENST00000542074.1_3'UTR	p.Y160H	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN			4	552	+			160						Missense_Mutation	SNP	ENST00000301761.2	37	c.478T>C	CCDS8007.1	.	.	.	.	.	.	.	.	.	.	T	18.76	3.692323	0.68271	.	.	ENSG00000167985	ENST00000301761	T	0.80994	-1.44	5.55	3.13	0.36017	.	0.000000	0.85682	D	0.000000	D	0.83908	0.5356	L	0.47190	1.495	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.81680	-0.0823	10	0.62326	D	0.03	-12.3161	8.0135	0.30368	0.1351:0.0:0.1415:0.7235	.	160	Q9NX18	SDHF2_HUMAN	H	160	ENSP00000301761:Y160H	ENSP00000440219:Y148H	Y	+	1	0	SDHAF2	60970096	1.000000	0.71417	0.223000	0.23860	0.659000	0.38960	6.620000	0.74224	0.352000	0.24053	0.402000	0.26972	TAC		0.488	SDHAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398438.1	NM_017841		34	100	0	0	0	1	0	34	100				
NCOR2	9612	broad.mit.edu	37	12	124911256	124911256	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124911256C>T	ENST00000405201.1	-	11	1240	c.1240G>A	c.(1240-1242)Ggg>Agg	p.G414R	NCOR2_ENST00000356219.3_Missense_Mutation_p.G414R|NCOR2_ENST00000429285.2_Missense_Mutation_p.G413R|NCOR2_ENST00000404621.1_Missense_Mutation_p.G413R|NCOR2_ENST00000397355.1_Missense_Mutation_p.G414R|NCOR2_ENST00000404121.2_5'UTR			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	414					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCCATAAGCCCGTTCATGTTG	0.572																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1240-1242)Ggg>Agg		nuclear receptor corepressor 2							93.0	99.0	97.0					12																	124911256		2108	4216	6324	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124911256C>T	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1240G>A	12.37:g.124911256C>T	ENSP00000384018:p.Gly414Arg					NCOR2_ENST00000429285.2_Missense_Mutation_p.G413R|NCOR2_ENST00000405201.1_Missense_Mutation_p.G414R|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000404621.1_Missense_Mutation_p.G413R|NCOR2_ENST00000397355.1_Missense_Mutation_p.G414R	p.G414R	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	12	1395	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		414					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.1240G>A	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	c	16.93	3.259334	0.59321	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02	4.95	4.95	0.65309	.	0.183903	0.47093	D	0.000252	T	0.61999	0.2392	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.65232	-0.6218	10	0.87932	D	0	-46.4991	18.5814	0.91172	0.0:1.0:0.0:0.0	.	413;414;414	C9J0Q5;C9J239;C9JFD3	.;.;.	R	414;413;414;414;414;413;414;414	ENSP00000384018:G414R;ENSP00000384202:G413R;ENSP00000348551:G414R;ENSP00000380513:G414R;ENSP00000400281:G413R;ENSP00000402808:G414R;ENSP00000405367:G414R	ENSP00000348551:G414R	G	-	1	0	NCOR2	123477209	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.792000	0.85828	2.462000	0.83206	0.556000	0.70494	GGG		0.572	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		47	82	0	0	0	1	0	47	82				
OSBPL2	9885	broad.mit.edu	37	20	60838714	60838714	+	Silent	SNP	C	C	T	rs146206209	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:60838714C>T	ENST00000313733.3	+	4	427	c.225C>T	c.(223-225)agC>agT	p.S75S	OSBPL2_ENST00000439951.2_5'UTR|OSBPL2_ENST00000358053.2_Silent_p.S63S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	75					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GCGACTTCAGCGTGTGGACCA	0.582													C|||	4	0.000798722	0.0015	0.0	5008	,	,		16847	0.0		0.001	False		,,,				2504	0.001					ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(223-225)agC>agT		oxysterol binding protein-like 2		C	,	4,4402	8.1+/-20.4	0,4,2199	94.0	80.0	85.0		189,225	-4.6	1.0	20	dbSNP_134	85	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	OSBPL2	NM_014835.2,NM_144498.1	,	0,7,6496	TT,TC,CC		0.0349,0.0908,0.0538	,	63/469,75/481	60838714	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	9885				lipid transport		lipid binding	g.chr20:60838714C>T	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.225C>T	20.37:g.60838714C>T						OSBPL2_ENST00000358053.2_Silent_p.S63S|OSBPL2_ENST00000439951.2_5'UTR	p.S75S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		4	427	+	Breast(26;7.76e-09)		75					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Silent	SNP	ENST00000313733.3	37	c.225C>T	CCDS13495.1																																																																																				0.582	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		28	112	0	0	0	1	0	28	112				
DENND4C	55667	broad.mit.edu	37	9	19332077	19332077	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:19332077T>C	ENST00000380432.2	+	13	1680	c.1647T>C	c.(1645-1647)tgT>tgC	p.C549C	DENND4C_ENST00000602925.1_Silent_p.C785C|DENND4C_ENST00000434457.2_Silent_p.C785C			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	549					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GGTTTATTTGTCTTCCGGCCT	0.383																																						ENST00000380432.2																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1645-1647)tgT>tgC		DENN/MADD domain containing 4C							176.0	156.0	163.0					9																	19332077		2203	4300	6503	SO:0001819	synonymous_variant	55667					integral to membrane		g.chr9:19332077T>C	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.1647T>C	9.37:g.19332077T>C						DENND4C_ENST00000307015.9_5'UTR|DENND4C_ENST00000602925.1_Silent_p.C785C|DENND4C_ENST00000434457.2_Silent_p.C785C|DENND4C_ENST00000540671.1_Intron	p.C549C	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN			13	1680	+			549					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Silent	SNP	ENST00000380432.2	37	c.1647T>C																																																																																					0.383	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		21	49	0	0	0	1	0	21	49				
EME1	146956	broad.mit.edu	37	17	48457820	48457820	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:48457820T>C	ENST00000338165.4	+	8	1576	c.1494T>C	c.(1492-1494)agT>agC	p.S498S	EME1_ENST00000393271.2_Silent_p.S511S|EME1_ENST00000511648.2_Silent_p.S511S	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	498					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AAATGGCCAGTGCAGTTGTGA	0.622								Direct reversal of damage;Homologous recombination																														ENST00000393271.2																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19						c.(1531-1533)agT>agC	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease 1							94.0	76.0	82.0					17																	48457820		2203	4300	6503	SO:0001819	synonymous_variant	146956				DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding	g.chr17:48457820T>C	BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.1494T>C	17.37:g.48457820T>C						EME1_ENST00000511648.2_Silent_p.S511S|EME1_ENST00000338165.4_Silent_p.S498S	p.S511S	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		8	1615	+	Breast(11;5.62e-19)		498					Q96N62	Silent	SNP	ENST00000338165.4	37	c.1533T>C	CCDS11565.1	.	.	.	.	.	.	.	.	.	.	T	5.993	0.367047	0.11352	.	.	ENSG00000154920	ENST00000510246	.	.	.	6.06	-1.7	0.08159	.	.	.	.	.	T	0.53530	0.1802	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47774	-0.9091	4	.	.	.	-36.4543	8.1451	0.31106	0.0:0.3949:0.1756:0.4295	.	.	.	.	R	310	.	.	C	+	1	0	EME1	45812819	0.001000	0.12720	0.971000	0.41717	0.533000	0.34776	-1.801000	0.01743	-0.288000	0.09051	-0.274000	0.10170	TGC		0.622	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367118.3	NM_152463		15	70	0	0	0	1	0	15	70				
IGFALS	3483	broad.mit.edu	37	16	1841065	1841065	+	Missense_Mutation	SNP	G	G	A	rs551584413		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:1841065G>A	ENST00000215539.3	-	2	1464	c.1354C>T	c.(1354-1356)Cgc>Tgc	p.R452C	IGFALS_ENST00000415638.3_Missense_Mutation_p.R490C			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	452					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						TGGAAGAGGCGGTGGGGCAGG	0.706													G|||	1	0.000199681	0.0	0.0	5008	,	,		14614	0.0		0.0	False		,,,				2504	0.001					ENST00000415638.3																			0				endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						c.(1468-1470)Cgc>Tgc		insulin-like growth factor binding protein, acid labile subunit																																				SO:0001583	missense	3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1841065G>A	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.1354C>T	16.37:g.1841065G>A	ENSP00000215539:p.Arg452Cys					IGFALS_ENST00000215539.3_Missense_Mutation_p.R452C	p.R490C	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN			2	1547	-			452					B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	37	c.1468C>T	CCDS10446.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.327078	0.24080	.	.	ENSG00000099769	ENST00000215539;ENST00000415638	T;T	0.59083	0.29;0.29	4.68	2.55	0.30701	.	0.852705	0.10364	N	0.683588	T	0.62134	0.2403	L	0.35288	1.05	0.09310	N	0.999994	D;D	0.76494	0.994;0.999	P;P	0.60609	0.802;0.877	T	0.52704	-0.8540	10	0.54805	T	0.06	.	11.3137	0.49379	0.0:0.0:0.5276:0.4724	.	490;452	E9PGU3;P35858	.;ALS_HUMAN	C	452;490	ENSP00000215539:R452C;ENSP00000416683:R490C	ENSP00000215539:R452C	R	-	1	0	IGFALS	1781066	0.000000	0.05858	0.002000	0.10522	0.103000	0.19146	0.535000	0.23114	0.916000	0.36871	0.561000	0.74099	CGC		0.706	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			12	23	0	0	0	1	0	12	23				
C11orf30	56946	broad.mit.edu	37	11	76169245	76169245	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:76169245C>A	ENST00000529032.1	+	4	264	c.264C>A	c.(262-264)agC>agA	p.S88R	C11orf30_ENST00000524490.1_Missense_Mutation_p.S88R|C11orf30_ENST00000525959.1_3'UTR|C11orf30_ENST00000525919.1_Missense_Mutation_p.S88R|C11orf30_ENST00000524767.1_Missense_Mutation_p.S102R|C11orf30_ENST00000343878.3_Missense_Mutation_p.S88R|C11orf30_ENST00000525038.1_Missense_Mutation_p.S102R|C11orf30_ENST00000533248.1_Missense_Mutation_p.S102R|C11orf30_ENST00000334736.3_Missense_Mutation_p.S88R			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	88	ENT. {ECO:0000255|PROSITE- ProRule:PRU00476}.|Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GACCTAATAGCTCTTCAGAAT	0.408																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(262-264)agC>agA		chromosome 11 open reading frame 30							99.0	101.0	100.0					11																	76169245		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76169245C>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.264C>A	11.37:g.76169245C>A	ENSP00000432327:p.Ser88Arg					C11orf30_ENST00000343878.3_Missense_Mutation_p.S88R|C11orf30_ENST00000525919.1_Missense_Mutation_p.S88R|C11orf30_ENST00000525959.1_3'UTR|C11orf30_ENST00000533248.1_Missense_Mutation_p.S102R|C11orf30_ENST00000524490.1_Missense_Mutation_p.S88R|C11orf30_ENST00000524767.1_Missense_Mutation_p.S102R|C11orf30_ENST00000334736.3_Missense_Mutation_p.S88R|C11orf30_ENST00000525038.1_Missense_Mutation_p.S102R	p.S88R			Q7Z589	EMSY_HUMAN			4	264	+			88			ENT.|Interaction with BRCA2.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.264C>A	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940816	0.52972	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.98	4.11	0.48088	EMSY N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70842	0.3270	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.998;1.0;1.0;1.0;1.0;0.999	T	0.72401	-0.4305	9	0.87932	D	0	-4.9592	12.0917	0.53730	0.0:0.8597:0.0:0.1403	.	102;102;102;88;88;88;88;88;88	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589;B4E1Z2	.;.;.;.;.;.;.;EMSY_HUMAN;.	R	88;88;88;88;102;102;88;102;88	.	ENSP00000334130:S88R	S	+	3	2	C11orf30	75846893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.158000	0.42329	0.844000	0.35094	0.591000	0.81541	AGC		0.408	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		21	100	1	0	6.33239e-15	1	6.63078e-15	21	100				
CNOT8	9337	broad.mit.edu	37	5	154250343	154250343	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:154250343T>C	ENST00000517876.1	+	5	910	c.434T>C	c.(433-435)gTg>gCg	p.V145A	CNOT8_ENST00000523698.1_Missense_Mutation_p.V39A|CNOT8_ENST00000521583.1_Missense_Mutation_p.V39A|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000403027.2_Missense_Mutation_p.V145A|CNOT8_ENST00000521450.1_Missense_Mutation_p.V39A|CNOT8_ENST00000285896.6_Missense_Mutation_p.V145A|CNOT8_ENST00000520671.1_Missense_Mutation_p.V39A			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	145					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACATCAGGAGTGGTTCTCTGT	0.443																																					NSCLC(140;1804 1895 27149 29895 35312)	ENST00000517876.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(433-435)gTg>gCg		CCR4-NOT transcription complex, subunit 8							233.0	206.0	215.0					5																	154250343		2203	4300	6503	SO:0001583	missense	9337				negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:154250343T>C	AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"""PGK promoter directed over production"""	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.434T>C	5.37:g.154250343T>C	ENSP00000430493:p.Val145Ala					CNOT8_ENST00000523698.1_Missense_Mutation_p.V39A|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000521450.1_Missense_Mutation_p.V39A|CNOT8_ENST00000521583.1_Missense_Mutation_p.V39A|CNOT8_ENST00000403027.2_Missense_Mutation_p.V145A|CNOT8_ENST00000285896.6_Missense_Mutation_p.V145A|CNOT8_ENST00000520671.1_Missense_Mutation_p.V39A	p.V145A			Q9UFF9	CNOT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		5	910	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	145					B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Missense_Mutation	SNP	ENST00000517876.1	37	c.434T>C	CCDS4329.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.039386	0.93630	.	.	ENSG00000155508	ENST00000523698;ENST00000517876;ENST00000519903;ENST00000521450;ENST00000403027;ENST00000285896;ENST00000542339;ENST00000520671;ENST00000521583	T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.43	5.43	0.79202	Ribonuclease H-like (1);	0.186082	0.47852	D	0.000206	T	0.43122	0.1233	M	0.76002	2.32	0.80722	D	1	P	0.42518	0.782	P	0.49477	0.612	T	0.43909	-0.9362	10	0.87932	D	0	-6.5688	15.4834	0.75545	0.0:0.0:0.0:1.0	.	145	Q9UFF9	CNOT8_HUMAN	A	39;145;39;39;145;145;122;39;39	ENSP00000428565:V39A;ENSP00000430493:V145A;ENSP00000428359:V39A;ENSP00000431034:V39A;ENSP00000384747:V145A;ENSP00000285896:V145A;ENSP00000428305:V39A;ENSP00000429882:V39A	ENSP00000285896:V145A	V	+	2	0	CNOT8	154230536	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.505000	0.81655	2.056000	0.61249	0.454000	0.30748	GTG		0.443	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377449.1	NM_004779		54	128	0	0	0	1	0	54	128				
KMT2D	8085	broad.mit.edu	37	12	49425038	49425038	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:49425038G>A	ENST00000301067.7	-	39	13449	c.13450C>T	c.(13450-13452)Cga>Tga	p.R4484*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4484					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)										ATCTCAGCTCGCAGCCCCTCG	0.597																																						ENST00000301067.7																			0											c.(13450-13452)Cga>Tga		lysine (K)-specific methyltransferase 2D							82.0	89.0	86.0					12																	49425038		2071	4203	6274	SO:0001587	stop_gained	8085							g.chr12:49425038G>A	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.13450C>T	12.37:g.49425038G>A	ENSP00000301067:p.Arg4484*						p.R4484*	NM_003482.3	NP_003473.3					39	13449	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.13450C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	54	23.107080	0.99953	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.57	5.57	0.84162	.	0.000000	0.30989	N	0.008471	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6999	0.91617	0.0:0.0:1.0:0.0	.	.	.	.	X	4484	.	ENSP00000301067:R4484X	R	-	1	2	MLL2	47711305	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.410000	0.73294	2.793000	0.96121	0.655000	0.94253	CGA		0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			96	128	0	0	0	1	0	96	128				
CD2BP2	10421	broad.mit.edu	37	16	30365563	30365563	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30365563C>A	ENST00000305596.3	-	3	334	c.159G>T	c.(157-159)gaG>gaT	p.E53D	CD2BP2_ENST00000569466.1_Missense_Mutation_p.E53D|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	53					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)	p.E53D(2)		breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CATCATCATCCTCCTCCTCAT	0.517																																						ENST00000305596.3																			2	Substitution - Missense(2)	p.E53D(2)	large_intestine(1)|lung(1)	breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(157-159)gaG>gaT		CD2 (cytoplasmic tail) binding protein 2							233.0	224.0	227.0					16																	30365563		2197	4300	6497	SO:0001583	missense	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30365563C>A	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.159G>T	16.37:g.30365563C>A	ENSP00000304903:p.Glu53Asp					CD2BP2_ENST00000569466.1_Missense_Mutation_p.E53D	p.E53D	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN			3	334	-			53					B2RDX2|Q9ULP2	Missense_Mutation	SNP	ENST00000305596.3	37	c.159G>T	CCDS10675.1	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.315750	0.01331	.	.	ENSG00000169217	ENST00000305596	T	0.26660	1.72	0.0465	0.0465	0.14256	.	0.149066	0.64402	N	0.000019	T	0.11067	0.0270	N	0.00869	-1.13	0.19300	N	0.99997	D	0.89917	1.0	D	0.80764	0.994	T	0.40572	-0.9556	9	0.02654	T	1	.	.	.	.	.	53	O95400	CD2B2_HUMAN	D	53	ENSP00000304903:E53D	ENSP00000304903:E53D	E	-	3	2	CD2BP2	30273064	0.876000	0.30132	0.875000	0.34327	0.570000	0.35934	-2.388000	0.01059	-1.589000	0.01625	-1.596000	0.00833	GAG		0.517	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		97	324	1	0	3.71036e-49	1	3.93822e-49	97	324				
GLUD2	2747	broad.mit.edu	37	X	120182040	120182040	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:120182040A>T	ENST00000328078.1	+	1	579	c.502A>T	c.(502-504)Atg>Ttg	p.M168L		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	168					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						GGCTTCTCTGATGACATACAA	0.488																																						ENST00000328078.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(502-504)Atg>Ttg		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						116.0	86.0	96.0					X																	120182040		2203	4300	6503	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182040A>T	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.502A>T	X.37:g.120182040A>T	ENSP00000327589:p.Met168Leu						p.M168L	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	579	+			168					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.502A>T	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.493797	0.44352	.	.	ENSG00000182890	ENST00000328078	D	0.97850	-4.57	1.62	-1.07	0.09968	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.076832	0.85682	D	0.000000	D	0.98093	0.9371	H	0.99197	4.465	0.58432	D	0.999994	P	0.38617	0.64	B	0.42653	0.394	D	0.94844	0.8007	10	0.87932	D	0	.	5.2515	0.15524	0.652:0.0:0.348:0.0	.	168	P49448	DHE4_HUMAN	L	168	ENSP00000327589:M168L	ENSP00000327589:M168L	M	+	1	0	GLUD2	120009721	1.000000	0.71417	0.756000	0.31282	0.906000	0.53458	4.074000	0.57577	-0.342000	0.08363	-0.658000	0.03865	ATG		0.488	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		41	46	0	0	0	1	0	41	46				
AGAP6	414189	broad.mit.edu	37	10	51754188	51754188	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:51754188A>G	ENST00000374056.4	+	3	724	c.326A>G	c.(325-327)cAt>cGt	p.H109R	AGAP6_ENST00000412531.3_Splice_Site_p.H132R			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	109					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H132R(4)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TGTACAAACCATGTAAGTAAA	0.299																																						ENST00000374056.4																			4	Substitution - Missense(4)	p.H132R(4)	endometrium(4)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.e3+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6							51.0	44.0	46.0					10																	51754188		692	1585	2277	SO:0001630	splice_region_variant	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51754188A>G		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.327+1A>G	10.37:g.51754188A>G						AGAP6_ENST00000412531.3_Splice_Site_p.H132_splice	p.H109_splice			C9IYN2	C9IYN2_HUMAN			3	724	+			132						Splice_Site	SNP	ENST00000374056.4	37	c.327_splice		.	.	.	.	.	.	.	.	.	.	A	3.385	-0.125542	0.06795	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	1.7	1.7	0.24286	.	0.194928	0.41712	D	0.000827	T	0.40272	0.1110	M	0.71206	2.165	0.21841	N	0.999514	B	0.19331	0.035	B	0.17433	0.018	T	0.21586	-1.0241	9	0.19590	T	0.45	.	7.4134	0.27029	1.0:0.0:0.0:0.0	.	132	C9IYN2	.	R	132;109	.	ENSP00000363168:H132R	H	+	2	0	AGAP6	51424194	1.000000	0.71417	1.000000	0.80357	0.159000	0.22180	3.699000	0.54778	1.033000	0.39918	0.155000	0.16302	CAT		0.299	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665	Missense_Mutation	4	58	0	0	0	1	0	4	58				
PLCL2	23228	broad.mit.edu	37	3	17084409	17084409	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:17084409T>C	ENST00000418129.2	+	4	3149	c.2684T>C	c.(2683-2685)gTa>gCa	p.V895A	PLCL2_ENST00000432376.1_Missense_Mutation_p.V895A|PLCL2-AS1_ENST00000414844.2_RNA|PLCL2_ENST00000396755.2_Missense_Mutation_p.V895A	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1021					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCAGATGCTGTATATGAAAAG	0.393																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(2683-2685)gTa>gCa		phospholipase C-like 2							214.0	207.0	209.0					3																	17084409		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17084409T>C	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2684T>C	3.37:g.17084409T>C	ENSP00000409637:p.Val895Ala					PLCL2-AS1_ENST00000414844.2_RNA|PLCL2_ENST00000432376.1_Missense_Mutation_p.V895A|PLCL2_ENST00000396755.2_Missense_Mutation_p.V895A	p.V895A	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			4	3149	+			1021					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.2684T>C	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.32|17.32	3.360223|3.360223	0.61403|0.61403	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376|ENST00000419842	T;T;T|.	0.20332|.	2.08;2.09;2.08|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.239013|.	0.41823|.	D|.	0.000802|.	T|T	0.70430|0.70430	0.3223|0.3223	.|.	.|.	.|.	0.47994|0.47994	D|D	0.999563|0.999563	B|.	0.10296|.	0.003|.	B|.	0.20767|.	0.031|.	T|T	0.69503|0.69503	-0.5128|-0.5128	9|4	0.51188|.	T|.	0.08|.	.|.	13.8386|13.8386	0.63424|0.63424	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1021|.	Q9UPR0|.	PLCL2_HUMAN|.	A|H	895;1022;895;895|639	ENSP00000409637:V895A;ENSP00000379979:V895A;ENSP00000412836:V895A|.	ENSP00000285094:V1022A|.	V|Y	+|+	2|1	0|0	PLCL2|PLCL2	17059413|17059413	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.932000|0.932000	0.56968|0.56968	4.787000|4.787000	0.62432|0.62432	2.260000|2.260000	0.74910|0.74910	0.529000|0.529000	0.55759|0.55759	GTA|TAT		0.393	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			4	215	0	0	0	1	0	4	215				
ZNF783	100289678	broad.mit.edu	37	7	148975579	148975579	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:148975579G>A	ENST00000434415.1	+	5	926	c.763G>A	c.(763-765)Gac>Aac	p.D255N	ZNF783_ENST00000489518.1_3'UTR	NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GCAGCAGCAGGACTCAGAGGC	0.637																																						ENST00000434415.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22						c.(763-765)Gac>Aac		zinc finger family member 783							30.0	39.0	36.0					7																	148975579		2112	4219	6331	SO:0001583	missense	100289678				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:148975579G>A	AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.763G>A	7.37:g.148975579G>A	ENSP00000410890:p.Asp255Asn					ZNF783_ENST00000489518.1_3'UTR	p.D255N	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0014)		5	926	+	Melanoma(164;0.15)		255					C9J9J2	Missense_Mutation	SNP	ENST00000434415.1	37	c.763G>A	CCDS56519.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920306	0.33908	.	.	ENSG00000204946	ENST00000434415	T	0.05649	3.41	3.45	1.58	0.23477	.	.	.	.	.	T	0.04272	0.0118	N	0.24115	0.695	0.09310	N	0.999997	.	.	.	.	.	.	T	0.46665	-0.9175	7	0.18710	T	0.47	-1.8724	4.7618	0.13111	0.1227:0.2222:0.6551:0.0	.	.	.	.	N	255	ENSP00000410890:D255N	ENSP00000367291:D255N	D	+	1	0	ZNF783	148606512	0.001000	0.12720	0.000000	0.03702	0.048000	0.14542	0.821000	0.27338	0.439000	0.26476	0.655000	0.94253	GAC		0.637	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220		12	28	0	0	0	1	0	12	28				
UFL1	23376	broad.mit.edu	37	6	96996134	96996134	+	Silent	SNP	G	G	A	rs73757900	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:96996134G>A	ENST00000369278.4	+	13	1563	c.1497G>A	c.(1495-1497)tcG>tcA	p.S499S		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	499					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										AGTTTATTTCGGAACTTGCTG	0.299													G|||	8	0.00159744	0.0061	0.0	5008	,	,		14373	0.0		0.0	False		,,,				2504	0.0					ENST00000369278.4																			0											c.(1495-1497)tcG>tcA		UFM1-specific ligase 1		G		29,4377	33.5+/-64.1	0,29,2174	55.0	57.0	56.0		1497	0.5	1.0	6	dbSNP_130	56	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	UFL1	NM_015323.4		0,31,6471	AA,AG,GG		0.0233,0.6582,0.2384		499/795	96996134	31,12973	2203	4299	6502	SO:0001819	synonymous_variant	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96996134G>A	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1497G>A	6.37:g.96996134G>A							p.S499S	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			13	1563	+			499					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Silent	SNP	ENST00000369278.4	37	c.1497G>A	CCDS5034.1																																																																																				0.299	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		4	31	0	0	0	1	0	4	31				
PKD1L1	168507	broad.mit.edu	37	7	47947813	47947813	+	Silent	SNP	G	G	A	rs373313480		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:47947813G>A	ENST00000289672.2	-	9	1313	c.1263C>T	c.(1261-1263)aaC>aaT	p.N421N		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	421					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CATGAAACTCGTTATAAATAA	0.408													A|||	1	0.000199681	0.0	0.0	5008	,	,		21370	0.0		0.0	False		,,,				2504	0.001					ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(1261-1263)aaC>aaT		polycystic kidney disease 1 like 1		A		1,4405	826.1+/-416.6	0,1,2202	91.0	80.0	84.0		1263	3.1	0.0	7		84	0,8600		0,0,4300	no	coding-synonymous	PKD1L1	NM_138295.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		421/2850	47947813	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47947813G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1263C>T	7.37:g.47947813G>A							p.N421N	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			9	1313	-			421					Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.1263C>T	CCDS34633.1																																																																																				0.408	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		22	51	0	0	0	1	0	22	51				
EPB41L5	57669	broad.mit.edu	37	2	120903814	120903814	+	Missense_Mutation	SNP	A	A	G	rs200132316	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:120903814A>G	ENST00000263713.5	+	20	1956	c.1742A>G	c.(1741-1743)gAt>gGt	p.D581G	EPB41L5_ENST00000452780.1_Missense_Mutation_p.D581G|EPB41L5_ENST00000443902.2_Missense_Mutation_p.D581G	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	581					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						ACAAAAGAAGATAGCTTATTA	0.294																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(1741-1743)gAt>gGt		erythrocyte membrane protein band 4.1 like 5							45.0	46.0	46.0					2																	120903814		2203	4299	6502	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120903814A>G	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1742A>G	2.37:g.120903814A>G	ENSP00000263713:p.Asp581Gly					EPB41L5_ENST00000452780.1_Missense_Mutation_p.D581G|EPB41L5_ENST00000443902.2_Missense_Mutation_p.D581G	p.D581G	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			20	1956	+			581					Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.1742A>G	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	A	11.69	1.713935	0.30413	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000452780	D;D;D	0.82984	-1.65;-1.67;-1.66	5.63	4.48	0.54585	.	0.178275	0.38111	N	0.001801	T	0.75295	0.3830	L	0.40543	1.245	0.38414	D	0.945993	B;B;B	0.12013	0.005;0.003;0.004	B;B;B	0.12837	0.008;0.001;0.002	T	0.71481	-0.4580	10	0.54805	T	0.06	.	9.3548	0.38159	0.9173:0.0:0.0827:0.0	.	581;581;581	Q9HCM4-3;Q9HCM4-4;Q9HCM4	.;.;E41L5_HUMAN	G	581	ENSP00000263713:D581G;ENSP00000393856:D581G;ENSP00000390439:D581G	ENSP00000263713:D581G	D	+	2	0	EPB41L5	120620284	0.996000	0.38824	0.795000	0.32087	0.720000	0.41350	3.368000	0.52357	0.968000	0.38212	0.397000	0.26171	GAT		0.294	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		7	19	0	0	0	1	0	7	19				
ABCC12	94160	broad.mit.edu	37	16	48173142	48173142	+	Missense_Mutation	SNP	C	C	T	rs543162145	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:48173142C>T	ENST00000311303.3	-	5	1108	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	ABCC12_ENST00000448542.1_Missense_Mutation_p.A255T|ABCC12_ENST00000416054.1_Missense_Mutation_p.A255T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	255	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATGAAAAAGGCGTACGCCGCA	0.473													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19482	0.0		0.0	False		,,,				2504	0.001					ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(763-765)Gcc>Acc		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							125.0	114.0	118.0					16																	48173142		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48173142C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.763G>A	16.37:g.48173142C>T	ENSP00000311030:p.Ala255Thr					ABCC12_ENST00000416054.1_Missense_Mutation_p.A255T|ABCC12_ENST00000448542.1_Missense_Mutation_p.A255T	p.A255T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			5	1108	-		all_cancers(37;0.0474)|all_lung(18;0.047)	255			ABC transmembrane type-1 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.763G>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803115	0.31869	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000416054	D;D;D	0.89617	-2.54;-2.54;-2.54	5.88	4.88	0.63580	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.117210	0.56097	D	0.000025	T	0.74839	0.3769	N	0.21240	0.645	0.52501	D	0.999953	P;B	0.44734	0.842;0.014	B;B	0.38921	0.285;0.03	T	0.75277	-0.3374	10	0.02654	T	1	.	6.7966	0.23729	0.2638:0.6539:0.0:0.0823	.	255;255	Q96J65-2;Q96J65	.;MRP9_HUMAN	T	255	ENSP00000311030:A255T;ENSP00000401855:A255T;ENSP00000413046:A255T	ENSP00000311030:A255T	A	-	1	0	ABCC12	46730643	0.067000	0.21026	0.971000	0.41717	0.479000	0.33129	0.252000	0.18278	2.774000	0.95407	0.655000	0.94253	GCC		0.473	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		5	163	0	0	0	1	0	5	163				
PTPRE	5791	broad.mit.edu	37	10	129866425	129866425	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:129866425A>G	ENST00000254667.3	+	12	1161	c.882A>G	c.(880-882)tcA>tcG	p.S294S	PTPRE_ENST00000306042.5_Silent_p.S236S|PTPRE_ENST00000419012.2_Silent_p.S294S|PTPRE_ENST00000430713.2_3'UTR	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	294	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GGCTGGTCTCACAGCTGCACT	0.617																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(880-882)tcA>tcG		protein tyrosine phosphatase, receptor type, E							47.0	47.0	47.0					10																	129866425		2203	4300	6503	SO:0001819	synonymous_variant	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129866425A>G	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.882A>G	10.37:g.129866425A>G						PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000419012.2_Silent_p.S294S|PTPRE_ENST00000306042.5_Silent_p.S236S	p.S294S	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			12	1161	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	294			Tyrosine-protein phosphatase 1.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	37	c.882A>G	CCDS7657.1																																																																																				0.617	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			34	89	0	0	0	1	0	34	89				
PRUNE2	158471	broad.mit.edu	37	9	79322842	79322842	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:79322842T>C	ENST00000376718.3	-	8	4471	c.4348A>G	c.(4348-4350)Atg>Gtg	p.M1450V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.M1091V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1450					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTGAAATTCATCCCATCTGAA	0.423																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(3271-3273)Atg>Gtg		prune homolog 2 (Drosophila)							77.0	78.0	78.0					9																	79322842		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322842T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4348A>G	9.37:g.79322842T>C	ENSP00000365908:p.Met1450Val					PRUNE2_ENST00000376718.3_Missense_Mutation_p.M1450V	p.M1091V			Q8WUY3	PRUN2_HUMAN			8	4471	-			1450					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.3271A>G	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.076|4.076	0.011912|0.011912	0.07912|0.07912	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.39592	.|1.07;1.07	5.49|5.49	-0.546|-0.546	0.11840|0.11840	.|.	.|1.966960	.|0.02380	.|N	.|0.078709	T|T	0.26955|0.26955	0.0660|0.0660	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.06405	.|0.002	T|T	0.19549|0.19549	-1.0302|-1.0302	5|10	.|0.52906	.|T	.|0.07	7.5086|7.5086	0.5728|0.5728	0.00698|0.00698	0.2211:0.1584:0.1751:0.4454|0.2211:0.1584:0.1751:0.4454	.|.	.|1450	.|Q8WUY3	.|PRUN2_HUMAN	G|V	771|1450;1091;1449	.|ENSP00000365908:M1450V;ENSP00000397425:M1091V	.|ENSP00000365908:M1450V	D|M	-|-	2|1	0|0	PRUNE2|PRUNE2	78512662|78512662	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.025000|0.025000	0.11179|0.11179	-0.002000|-0.002000	0.12924|0.12924	-0.036000|-0.036000	0.13669|0.13669	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		31	71	0	0	0	1	0	31	71				
ZNF780B	163131	broad.mit.edu	37	19	40540844	40540844	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:40540844A>G	ENST00000434248.1	-	5	1987	c.1922T>C	c.(1921-1923)tTt>tCt	p.F641S	ZNF780B_ENST00000221355.6_Missense_Mutation_p.F493S	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	641					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTTACATTTAAATGGCTTCTC	0.408																																						ENST00000434248.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1921-1923)tTt>tCt		zinc finger protein 780B							142.0	153.0	149.0					19																	40540844		2198	4300	6498	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40540844A>G	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1922T>C	19.37:g.40540844A>G	ENSP00000391641:p.Phe641Ser					ZNF780B_ENST00000221355.6_Missense_Mutation_p.F493S	p.F641S	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN			5	1987	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		641					B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.1922T>C	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	a	15.29	2.791090	0.50102	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.24908	1.83;1.83	2.56	1.4	0.22301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44912	0.1316	M	0.88640	2.97	0.24376	N	0.994819	D	0.54601	0.967	P	0.56474	0.799	T	0.30297	-0.9983	9	0.87932	D	0	.	4.6388	0.12538	0.5184:0.0:0.0:0.4816	.	641	Q9Y6R6	Z780B_HUMAN	S	641;493	ENSP00000391641:F641S;ENSP00000221355:F493S	ENSP00000221355:F493S	F	-	2	0	ZNF780B	45232684	0.000000	0.05858	0.045000	0.18777	0.239000	0.25481	-0.939000	0.03933	1.038000	0.40049	0.379000	0.24179	TTT		0.408	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		5	200	0	0	0	1	0	5	200				
EVC2	132884	broad.mit.edu	37	4	5627482	5627482	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:5627482T>C	ENST00000344408.5	-	13	2093	c.2040A>G	c.(2038-2040)ctA>ctG	p.L680L	EVC2_ENST00000310917.2_Silent_p.L600L|EVC2_ENST00000344938.1_Silent_p.L680L	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	680					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ATACCTTTTGTAGCAACTCTC	0.388																																						ENST00000310917.2																			0				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(1798-1800)ctA>ctG		Ellis van Creveld syndrome 2							216.0	209.0	211.0					4																	5627482		2203	4300	6503	SO:0001819	synonymous_variant	132884					integral to membrane		g.chr4:5627482T>C	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2040A>G	4.37:g.5627482T>C						EVC2_ENST00000344408.5_Silent_p.L680L|EVC2_ENST00000344938.1_Silent_p.L680L	p.L600L	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN			13	2531	-			680					Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	37	c.1800A>G	CCDS3382.2																																																																																				0.388	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		22	53	0	0	0	1	0	22	53				
DNTTIP2	30836	broad.mit.edu	37	1	94342347	94342347	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:94342347G>A	ENST00000436063.2	-	2	1201	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		GCTTTTATGGGGCTCTTTTTG	0.393																																						ENST00000436063.2																			0				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38						c.(1144-1146)Ccc>Tcc		deoxynucleotidyltransferase, terminal, interacting protein 2							262.0	243.0	249.0					1																	94342347		1875	4108	5983	SO:0001583	missense	30836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:94342347G>A	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1144C>T	1.37:g.94342347G>A	ENSP00000411010:p.Pro382Ser					DNTTIP2_ENST00000460191.1_5'UTR	p.P382S	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)	2	1201	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	382					Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	37	c.1144C>T	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.010583	0.00422	.	.	ENSG00000067334	ENST00000436063	T	0.11712	2.75	5.01	-3.75	0.04372	.	1.292890	0.05261	N	0.515753	T	0.01061	0.0035	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41179	-0.9523	10	0.06891	T	0.86	.	3.0936	0.06302	0.1001:0.2238:0.4158:0.2602	.	382	Q5QJE6	TDIF2_HUMAN	S	382	ENSP00000411010:P382S	ENSP00000352137:P382S	P	-	1	0	DNTTIP2	94114935	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.638000	0.05452	-0.455000	0.07054	-0.457000	0.05445	CCC		0.393	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		4	220	0	0	0	1	0	4	220				
BDP1	55814	broad.mit.edu	37	5	70858308	70858308	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:70858308T>C	ENST00000358731.4	+	38	7967	c.7704T>C	c.(7702-7704)atT>atC	p.I2568I	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2568					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAAGTGTTATTACTACTCAAT	0.353																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(7702-7704)atT>atC		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							92.0	85.0	87.0					5																	70858308		1839	4094	5933	SO:0001819	synonymous_variant	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70858308T>C	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7704T>C	5.37:g.70858308T>C						BDP1_ENST00000380675.2_3'UTR	p.I2568I	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	38	7967	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2568					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	c.7704T>C	CCDS43328.1																																																																																				0.353	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		21	47	0	0	0	1	0	21	47				
WDR11	55717	broad.mit.edu	37	10	122664230	122664230	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:122664230G>A	ENST00000263461.6	+	25	3346	c.3100G>A	c.(3100-3102)Gcc>Acc	p.A1034T	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTCACTGAAAGCCTGTTTAGT	0.443																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(3100-3102)Gcc>Acc		WD repeat domain 11							142.0	128.0	133.0					10																	122664230		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122664230G>A	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.3100G>A	10.37:g.122664230G>A	ENSP00000263461:p.Ala1034Thr					WDR11_ENST00000604509.1_3'UTR	p.A1034T	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			25	3346	+			1034					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.3100G>A	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	36	5.880981	0.97062	.	.	ENSG00000120008	ENST00000263461	D	0.97232	-4.3	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.98604	0.9533	M	0.82193	2.58	0.80722	D	1	D;D;D;D	0.89917	0.997;0.997;1.0;0.993	D;D;D;D	0.97110	0.989;0.989;1.0;0.984	D	0.98942	1.0791	10	0.66056	D	0.02	-22.0035	20.4387	0.99107	0.0:0.0:1.0:0.0	.	1034;1034;325;563	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	T	1034	ENSP00000263461:A1034T	ENSP00000263461:A1034T	A	+	1	0	WDR11	122654220	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.836000	0.97738	0.655000	0.94253	GCC		0.443	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			4	112	0	0	0	1	0	4	112				
DES	1674	broad.mit.edu	37	2	220284873	220284873	+	Missense_Mutation	SNP	G	G	A	rs144261171	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:220284873G>A	ENST00000373960.3	+	2	721	c.635G>A	c.(634-636)cGa>cAa	p.R212Q		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	212	Coil 1B.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.R212Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCTGCCTTCCGAGCGGTGAGT	0.577													G|||	2	0.000399361	0.0	0.0	5008	,	,		18567	0.001		0.001	False		,,,				2504	0.0					ENST00000373960.3																			1	Substitution - Missense(1)	p.R212Q(1)	endometrium(1)	breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18						c.(634-636)cGa>cAa		desmin		G	GLN/ARG	0,4406		0,0,2203	118.0	98.0	105.0		635	4.6	1.0	2	dbSNP_134	105	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DES	NM_001927.3	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	212/471	220284873	2,13004	2203	4300	6503	SO:0001583	missense	1674				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	g.chr2:220284873G>A	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"""Intermediate filaments type III"""	2770	protein-coding gene	gene with protein product	"""intermediate filament protein"""	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.635G>A	2.37:g.220284873G>A	ENSP00000363071:p.Arg212Gln						p.R212Q	NM_001927.3	NP_001918.3	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	721	+		Renal(207;0.0183)	212			Coil 1B.|Rod.		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Missense_Mutation	SNP	ENST00000373960.3	37	c.635G>A	CCDS33383.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	35	5.592868	0.96602	0.0	2.33E-4	ENSG00000175084	ENST00000373960	D	0.92099	-2.97	4.56	4.56	0.56223	Filament (1);	0.000000	0.42053	D	0.000772	D	0.96682	0.8917	M	0.90814	3.15	0.51012	D	0.9999	D	0.89917	1.0	D	0.72982	0.979	D	0.97652	1.0155	10	0.87932	D	0	.	17.5195	0.87783	0.0:0.0:1.0:0.0	.	212	P17661	DESM_HUMAN	Q	212	ENSP00000363071:R212Q	ENSP00000363071:R212Q	R	+	2	0	DES	219993117	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.519000	0.98025	2.344000	0.79699	0.591000	0.81541	CGA		0.577	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		29	84	0	0	0	1	0	29	84				
MRGPRD	116512	broad.mit.edu	37	11	68748329	68748329	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:68748329C>T	ENST00000309106.3	-	1	126	c.127G>A	c.(127-129)Gca>Aca	p.A43T		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	43						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGTTGCCTGCCATCCCGCAC	0.592																																						ENST00000309106.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22						c.(127-129)Gca>Aca		MAS-related GPR, member D							63.0	61.0	62.0					11																	68748329		2200	4294	6494	SO:0001583	missense	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68748329C>T	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.127G>A	11.37:g.68748329C>T	ENSP00000310631:p.Ala43Thr						p.A43T	NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	126	-			43					Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	c.127G>A	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	C	7.038	0.562053	0.13498	.	.	ENSG00000172938	ENST00000309106	T	0.37235	1.21	5.17	3.24	0.37175	.	1.007700	0.07998	U	0.988348	T	0.19327	0.0464	N	0.08118	0	0.09310	N	1	P	0.47302	0.893	B	0.42851	0.4	T	0.06162	-1.0842	10	0.25106	T	0.35	-2.6898	4.0547	0.09811	0.1647:0.5878:0.1596:0.088	.	43	Q8TDS7	MRGRD_HUMAN	T	43	ENSP00000310631:A43T	ENSP00000310631:A43T	A	-	1	0	MRGPRD	68504905	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-0.359000	0.07632	0.548000	0.28955	0.467000	0.42956	GCA		0.592	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		16	66	0	0	0	1	0	16	66				
NPAP1	23742	broad.mit.edu	37	15	24922233	24922233	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:24922233A>G	ENST00000329468.2	+	1	1693	c.1219A>G	c.(1219-1221)Acc>Gcc	p.T407A		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	407	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											ACCTGTGCAGACCACAGACTC	0.537																																						ENST00000329468.2																			0											c.(1219-1221)Acc>Gcc		nuclear pore associated protein 1							76.0	76.0	76.0					15																	24922233		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24922233A>G	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1219A>G	15.37:g.24922233A>G	ENSP00000333735:p.Thr407Ala						p.T407A	NM_018958.2	NP_061831.2					1	1693	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.1219A>G	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	7.819	0.717286	0.15372	.	.	ENSG00000185823	ENST00000329468	T	0.05786	3.39	1.78	0.628	0.17681	.	1.171770	0.06463	N	0.729851	T	0.03220	0.0094	N	0.14661	0.345	0.09310	N	1	B	0.27166	0.17	B	0.15052	0.012	T	0.45716	-0.9242	10	0.13853	T	0.58	.	3.5246	0.07755	0.7825:0.0:0.2175:0.0	.	407	Q9NZP6	CO002_HUMAN	A	407	ENSP00000333735:T407A	ENSP00000333735:T407A	T	+	1	0	C15orf2	22473326	0.002000	0.14202	0.001000	0.08648	0.032000	0.12392	-0.129000	0.10515	0.165000	0.19558	0.260000	0.18958	ACC		0.537	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		21	62	0	0	0	1	0	21	62				
SLC12A7	10723	broad.mit.edu	37	5	1064202	1064202	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:1064202T>C	ENST00000264930.5	-	19	2646	c.2603A>G	c.(2602-2604)cAc>cGc	p.H868R	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	868					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCCCACCTTGTGCTGGCGCAG	0.716																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2602-2604)cAc>cGc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						39.0	34.0	36.0					5																	1064202		2198	4294	6492	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1064202T>C	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2603A>G	5.37:g.1064202T>C	ENSP00000264930:p.His868Arg						p.H868R	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		19	2646	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		868					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2603A>G	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	T	16.96	3.265507	0.59431	.	.	ENSG00000113504	ENST00000264930	T	0.72835	-0.69	4.26	4.26	0.50523	.	0.107312	0.64402	D	0.000005	T	0.66877	0.2834	M	0.64630	1.985	0.80722	D	1	P	0.47545	0.897	B	0.41332	0.354	T	0.70066	-0.4974	10	0.48119	T	0.1	.	12.158	0.54087	0.0:0.0:0.0:1.0	.	868	Q9Y666	S12A7_HUMAN	R	868	ENSP00000264930:H868R	ENSP00000264930:H868R	H	-	2	0	SLC12A7	1117202	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	7.061000	0.76699	1.566000	0.49654	0.260000	0.18958	CAC		0.716	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		7	36	0	0	0	1	0	7	36				
TUBGCP4	27229	broad.mit.edu	37	15	43663574	43663574	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:43663574G>A	ENST00000260383.7	+	1	276	c.22G>A	c.(22-24)Gct>Act	p.A8T	TUBGCP4_ENST00000564079.1_Missense_Mutation_p.A8T|TUBGCP4_ENST00000570081.1_Intron|ZSCAN29_ENST00000562072.1_5'Flank|ZSCAN29_ENST00000568898.1_5'Flank|ZSCAN29_ENST00000396976.2_5'Flank|ZSCAN29_ENST00000563508.1_5'Flank|ZSCAN29_ENST00000396972.1_5'Flank			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	8					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		ACTGCTCTTGGCTCTGAGCGG	0.647											OREG0023087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(22-24)Gct>Act		tubulin, gamma complex associated protein 4							46.0	55.0	52.0					15																	43663574		2008	4174	6182	SO:0001583	missense	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43663574G>A	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.22G>A	15.37:g.43663574G>A	ENSP00000260383:p.Ala8Thr		OREG0023087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	918	TUBGCP4_ENST00000570081.1_Intron|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.A8T	p.A8T	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	1	262	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	8					B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37	c.22G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.592888	0.96602	.	.	ENSG00000137822	ENST00000260383	T	0.09630	2.96	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	M	0.73598	2.24	0.80722	D	1	D;D	0.60575	0.988;0.984	P;P	0.59761	0.863;0.693	T	0.00967	-1.1497	10	0.49607	T	0.09	-14.0281	17.287	0.87145	0.0:0.0:1.0:0.0	.	8;8	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	T	8	ENSP00000260383:A8T	ENSP00000260383:A8T	A	+	1	0	TUBGCP4	41450866	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	8.319000	0.89992	2.740000	0.93945	0.313000	0.20887	GCT		0.647	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		13	25	0	0	0	1	0	13	25				
OLFM2	93145	broad.mit.edu	37	19	9967507	9967507	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:9967507C>T	ENST00000264833.4	-	5	848	c.663G>A	c.(661-663)acG>acA	p.T221T	OLFM2_ENST00000590841.1_Silent_p.T143T	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	221	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TGGGGGCCATCGTGTCAGTCA	0.662																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(661-663)acG>acA		olfactomedin 2							28.0	27.0	28.0					19																	9967507		2202	4300	6502	SO:0001819	synonymous_variant	93145					extracellular region		g.chr19:9967507C>T	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.663G>A	19.37:g.9967507C>T						OLFM2_ENST00000590841.1_Silent_p.T143T	p.T221T	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			5	848	-			221			Olfactomedin-like.		Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	37	c.663G>A	CCDS12221.1																																																																																				0.662	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			10	22	0	0	0	1	0	10	22				
BANP	54971	broad.mit.edu	37	16	88052189	88052189	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:88052189G>A	ENST00000393207.1	+	7	1008	c.787G>A	c.(787-789)Gag>Aag	p.E263K	BANP_ENST00000355163.5_Missense_Mutation_p.E238K|BANP_ENST00000538234.1_Missense_Mutation_p.E271K|BANP_ENST00000393208.2_Missense_Mutation_p.E232K|BANP_ENST00000286122.7_Missense_Mutation_p.E263K|BANP_ENST00000479780.2_Missense_Mutation_p.E232K|BANP_ENST00000355022.4_Missense_Mutation_p.E232K	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	263	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.|Interaction with CUX1 and HDAC1. {ECO:0000250}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CTTCCACCGCGAGGTGCAGGC	0.652																																						ENST00000393207.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12						c.(787-789)Gag>Aag		BTG3 associated nuclear protein							42.0	29.0	34.0					16																	88052189		2196	4299	6495	SO:0001583	missense	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88052189G>A	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.787G>A	16.37:g.88052189G>A	ENSP00000376902:p.Glu263Lys					BANP_ENST00000286122.7_Missense_Mutation_p.E263K|BANP_ENST00000355163.5_Missense_Mutation_p.E238K|BANP_ENST00000538234.1_Missense_Mutation_p.E271K|BANP_ENST00000393208.2_Missense_Mutation_p.E232K|BANP_ENST00000479780.2_Missense_Mutation_p.E232K|BANP_ENST00000355022.4_Missense_Mutation_p.E232K	p.E263K	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	7	1008	+			263			BEN.|Interaction with CUX1 and HDAC1 (By similarity).		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	ENST00000393207.1	37	c.787G>A	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	G	36	5.625164	0.96671	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06	5.11	5.11	0.69529	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.33059	0.0850	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.996;0.999;0.995;1.0	D;D;D;D;D;D	0.87578	0.995;0.998;0.974;0.994;0.956;0.996	T	0.06285	-1.0835	9	.	.	.	.	17.5078	0.87750	0.0:0.0:1.0:0.0	.	271;238;232;263;232;232	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	K	263;238;228;232;232;232;232;271;263	ENSP00000286122:E263K;ENSP00000347290:E238K;ENSP00000432508:E232K;ENSP00000376903:E232K;ENSP00000347125:E232K;ENSP00000444352:E271K;ENSP00000376902:E263K	.	E	+	1	0	BANP	86609690	1.000000	0.71417	0.994000	0.49952	0.940000	0.58332	9.200000	0.95010	2.357000	0.79964	0.491000	0.48974	GAG		0.652	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		5	19	0	0	0	1	0	5	19				
ETS2	2114	broad.mit.edu	37	21	40186267	40186267	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:40186267T>C	ENST00000360214.3	+	5	715	c.255T>C	c.(253-255)gcT>gcC	p.A85A	ETS2_ENST00000360938.3_Silent_p.A85A	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	85	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				CCTTAAAAGCTACCTTCAGTG	0.512																																						ENST00000360214.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(253-255)gcT>gcC		v-ets avian erythroblastosis virus E26 oncogene homolog 2							86.0	87.0	87.0					21																	40186267		2203	4300	6503	SO:0001819	synonymous_variant	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40186267T>C		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.255T>C	21.37:g.40186267T>C						ETS2_ENST00000360938.3_Silent_p.A85A	p.A85A	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN			5	715	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	85			PNT.		A6NM68|D3DSH6|Q53Y89	Silent	SNP	ENST00000360214.3	37	c.255T>C	CCDS13659.1																																																																																				0.512	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			34	90	0	0	0	1	0	34	90				
CECR1	51816	broad.mit.edu	37	22	17662422	17662422	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:17662422A>T	ENST00000399839.1	-	10	1757	c.1487T>A	c.(1486-1488)aTc>aAc	p.I496N	CECR1_ENST00000399837.2_Missense_Mutation_p.I496N|CECR1_ENST00000262607.3_Missense_Mutation_p.I496N|CECR1_ENST00000449907.2_Missense_Mutation_p.I454N|CECR1_ENST00000330232.4_Missense_Mutation_p.I255N	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	496					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CTTCTTCCAGATTTCCATGAA	0.522																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(1486-1488)aTc>aAc		cat eye syndrome chromosome region, candidate 1							279.0	270.0	273.0					22																	17662422		2203	4300	6503	SO:0001583	missense	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17662422A>T	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1487T>A	22.37:g.17662422A>T	ENSP00000382733:p.Ile496Asn					CECR1_ENST00000330232.4_Missense_Mutation_p.I255N|CECR1_ENST00000262607.3_Missense_Mutation_p.I496N|CECR1_ENST00000399837.2_Missense_Mutation_p.I496N|CECR1_ENST00000449907.2_Missense_Mutation_p.I454N	p.I496N			Q9NZK5	CECR1_HUMAN			10	1757	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	496					A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	c.1487T>A	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	A	3.215	-0.160793	0.06502	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	3.53	-2.08	0.07254	.	0.695467	0.14052	N	0.344663	T	0.64616	0.2614	L	0.31476	0.935	0.09310	N	1	P;B	0.41597	0.756;0.1	B;B	0.33392	0.163;0.075	T	0.57751	-0.7757	10	0.18276	T	0.48	.	8.7244	0.34460	0.7937:0.0:0.2063:0.0	.	496;255	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	N	496;255;496;454;496	ENSP00000382733:I496N;ENSP00000332871:I255N;ENSP00000262607:I496N;ENSP00000406443:I454N;ENSP00000382731:I496N	ENSP00000262607:I496N	I	-	2	0	CECR1	16042422	0.381000	0.25140	0.005000	0.12908	0.008000	0.06430	0.734000	0.26101	-0.430000	0.07318	-0.326000	0.08463	ATC		0.522	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			9	332	0	0	0	1	0	9	332				
CDAN1	146059	broad.mit.edu	37	15	43023206	43023206	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:43023206A>G	ENST00000356231.3	-	13	1947	c.1924T>C	c.(1924-1926)Ttt>Ctt	p.F642L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	642					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)		AAAGCCACAAAGCCCAGGAAT	0.562																																						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.(1924-1926)Ttt>Ctt		codanin 1							75.0	87.0	83.0					15																	43023206		2203	4299	6502	SO:0001583	missense	146059					integral to membrane	protein binding	g.chr15:43023206A>G	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.1924T>C	15.37:g.43023206A>G	ENSP00000348564:p.Phe642Leu						p.F642L	NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	13	1947	-		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)	642					Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	ENST00000356231.3	37	c.1924T>C	CCDS32209.1	.	.	.	.	.	.	.	.	.	.	A	30	5.054033	0.93793	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.88975	-2.45	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.92532	0.7628	L	0.51914	1.62	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.93212	0.6601	10	0.87932	D	0	-12.1435	14.8013	0.69919	1.0:0.0:0.0:0.0	.	642	Q8IWY9	CDAN1_HUMAN	L	642;640	ENSP00000348564:F642L	ENSP00000267892:F640L	F	-	1	0	CDAN1	40810498	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.127000	0.89593	2.228000	0.72767	0.533000	0.62120	TTT		0.562	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		37	112	0	0	0	1	0	37	112				
ARFGEF2	10564	broad.mit.edu	37	20	47601376	47601376	+	Splice_Site	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:47601376C>A	ENST00000371917.4	+	15	2069	c.2069C>A	c.(2068-2070)tCc>tAc	p.S690Y		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	690	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				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)	p.S690F(1)		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)			CGCCTGGATTCCGTAAGGCTT	0.527																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			1	Substitution - Missense(1)	p.S690F(1)	skin(1)	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.e15+1		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							105.0	87.0	93.0					20																	47601376		2203	4300	6503	SO:0001630	splice_region_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47601376C>A	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.2070+1C>A	20.37:g.47601376C>A							p.S690_splice	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		15	2069	+			690			SEC7.		Q5TFT9|Q9NTS1	Splice_Site	SNP	ENST00000371917.4	37	c.2070_splice	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957246	0.92726	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.76839	-1.05	5.85	5.85	0.93711	Armadillo-type fold (1);SEC7-like (4);	0.226626	0.47852	D	0.000211	T	0.73385	0.3580	L	0.39898	1.24	0.58432	D	0.999995	P	0.48998	0.918	P	0.44921	0.464	T	0.76844	-0.2809	10	0.87932	D	0	.	13.3736	0.60726	0.0:0.9281:0.0:0.0719	.	690	Q9Y6D5	BIG2_HUMAN	Y	690	ENSP00000360985:S690Y	ENSP00000360985:S690Y	S	+	2	0	ARFGEF2	47034783	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.920000	0.56446	2.770000	0.95276	0.563000	0.77884	TCC		0.527	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	Missense_Mutation	35	119	1	0	3.90053e-15	1	4.08622e-15	35	119				
SLITRK1	114798	broad.mit.edu	37	13	84453776	84453776	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:84453776C>A	ENST00000377084.2	-	1	2752	c.1867G>T	c.(1867-1869)Gga>Tga	p.G623*		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	623					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGCAGCAGTCCCGGGACCAAC	0.577																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1867-1869)Gga>Tga		SLIT and NTRK-like family, member 1							82.0	68.0	73.0					13																	84453776		2203	4300	6503	SO:0001587	stop_gained	114798					integral to membrane		g.chr13:84453776C>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1867G>T	13.37:g.84453776C>A	ENSP00000366288:p.Gly623*						p.G623*	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2752	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	623					Q5U5I6|Q96SF9	Nonsense_Mutation	SNP	ENST00000377084.2	37	c.1867G>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	48	13.904025	0.99769	.	.	ENSG00000178235	ENST00000377084	.	.	.	5.51	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.9745	13.5834	0.61915	0.0:0.924:0.0:0.076	.	.	.	.	X	623	.	ENSP00000366288:G623X	G	-	1	0	SLITRK1	83351777	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.062000	0.57492	1.468000	0.48064	0.655000	0.94253	GGA		0.577	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		8	29	1	0	0.00307968	1	0.00310584	8	29				
TYK2	7297	broad.mit.edu	37	19	10464742	10464742	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10464742A>G	ENST00000525621.1	-	20	3365	c.2884T>C	c.(2884-2886)Tac>Cac	p.Y962H	TYK2_ENST00000264818.6_Missense_Mutation_p.Y962H|TYK2_ENST00000524462.1_Missense_Mutation_p.Y777H|TYK2_ENST00000529422.1_5'Flank	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	962	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CAGCCCTTGTACTTGATGATG	0.647																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2884-2886)Tac>Cac		tyrosine kinase 2							94.0	86.0	89.0					19																	10464742		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10464742A>G		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2884T>C	19.37:g.10464742A>G	ENSP00000431885:p.Tyr962His					TYK2_ENST00000524462.1_Missense_Mutation_p.Y777H|TYK2_ENST00000264818.6_Missense_Mutation_p.Y962H	p.Y962H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		20	3365	-			962			Protein kinase 2.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.2884T>C	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	A	31	5.073614	0.94000	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792	D;D;D	0.89617	-2.54;-2.54;-2.54	5.61	5.61	0.85477	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000163	D	0.93367	0.7885	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93956	0.7236	10	0.87932	D	0	-36.0672	13.7526	0.62917	1.0:0.0:0.0:0.0	.	962	P29597	TYK2_HUMAN	H	777;962;962;709	ENSP00000433203:Y777H;ENSP00000431885:Y962H;ENSP00000264818:Y962H	ENSP00000264818:Y962H	Y	-	1	0	TYK2	10325742	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.905000	0.92613	2.146000	0.66826	0.533000	0.62120	TAC		0.647	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			37	82	0	0	0	1	0	37	82				
POU2F1	5451	broad.mit.edu	37	1	167384807	167384807	+	Silent	SNP	G	G	A	rs34658638	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:167384807G>A	ENST00000541643.3	+	17	2154	c.1992G>A	c.(1990-1992)gcG>gcA	p.A664A	POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000429375.2_Silent_p.A624A|POU2F1_ENST00000367862.5_Silent_p.A676A|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Silent_p.A687A			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	664					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TTGCCAATGCGGGAGGAGCCC	0.547													G|||	12	0.00239617	0.0076	0.0029	5008	,	,		17727	0.0		0.0	False		,,,				2504	0.0					ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(2026-2028)gcG>gcA		POU class 2 homeobox 1		G	,,	42,4364	45.3+/-79.5	0,42,2161	130.0	125.0	127.0		2028,1872,2061	-10.6	0.4	1	dbSNP_126	127	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	POU2F1	NM_001198783.1,NM_001198786.1,NM_002697.3	,,	0,44,6459	AA,AG,GG		0.0233,0.9532,0.3383	,,	676/756,624/704,687/767	167384807	44,12962	2203	4300	6503	SO:0001819	synonymous_variant	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167384807G>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1992G>A	1.37:g.167384807G>A						POU2F1_ENST00000429375.2_Silent_p.A624A|POU2F1_ENST00000367866.2_Silent_p.A687A|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Silent_p.A664A	p.A676A	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			16	2263	+			664					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Silent	SNP	ENST00000541643.3	37	c.2028G>A																																																																																					0.547	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		13	127	0	0	0	1	0	13	127				
RECK	8434	broad.mit.edu	37	9	36122906	36122906	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:36122906C>T	ENST00000377966.3	+	21	3346	c.2780C>T	c.(2779-2781)tCt>tTt	p.S927F		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	927					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GTCCCTCTCTCTGCCCTCATC	0.552																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(2779-2781)tCt>tTt		reversion-inducing-cysteine-rich protein with kazal motifs							154.0	143.0	147.0					9																	36122906		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36122906C>T	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2780C>T	9.37:g.36122906C>T	ENSP00000367202:p.Ser927Phe						p.S927F	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		21	3346	+			927					B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.2780C>T	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966914	0.92855	.	.	ENSG00000122707	ENST00000377966	T	0.57436	0.4	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.72819	0.3508	M	0.75615	2.305	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.74791	-0.3545	10	0.87932	D	0	-20.5282	15.8369	0.78805	0.0:1.0:0.0:0.0	.	927;927	A8K9D8;O95980	.;RECK_HUMAN	F	927	ENSP00000367202:S927F	ENSP00000367202:S927F	S	+	2	0	RECK	36112906	1.000000	0.71417	0.618000	0.29105	0.997000	0.91878	7.640000	0.83355	2.805000	0.96524	0.655000	0.94253	TCT		0.552	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			6	165	0	0	0	1	0	6	165				
TNNI2	7136	broad.mit.edu	37	11	1862298	1862298	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1862298G>C	ENST00000381906.1	+	7	383	c.314G>C	c.(313-315)gGc>gCc	p.G105A	TNNI2_ENST00000252898.7_Missense_Mutation_p.G105A|TNNI2_ENST00000381905.3_Missense_Mutation_p.G105A|TNNI2_ENST00000381911.1_Missense_Mutation_p.G105A	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	105	Involved in binding TNC and actin.				muscle filament sliding (GO:0030049)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|nucleus (GO:0005634)|troponin complex (GO:0005861)	troponin T binding (GO:0031014)			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GATCTGCGGGGCAAGTTCAAG	0.677																																						ENST00000381906.1																			0				lung(8)|prostate(1)|urinary_tract(1)	10						c.(313-315)gGc>gCc		troponin I type 2 (skeletal, fast)							25.0	27.0	26.0					11																	1862298		2200	4299	6499	SO:0001583	missense	7136				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding	g.chr11:1862298G>C	L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598			11946	protein-coding gene	gene with protein product	"""troponin I, fast-twitch skeletal muscle isoform"", ""troponin I fast twitch 2"""	191043	"""troponin I, skeletal, fast"", ""arthrogryposis multiplex congenita, distal, type 2B"""	AMCD2B		9016781, 12592607	Standard	NM_001145829		Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.314G>C	11.37:g.1862298G>C	ENSP00000371331:p.Gly105Ala					TNNI2_ENST00000252898.7_Missense_Mutation_p.G105A|TNNI2_ENST00000381905.3_Missense_Mutation_p.G105A|TNNI2_ENST00000381911.1_Missense_Mutation_p.G105A	p.G105A	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	7	383	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	105			Involved in binding TNC and actin.		A6NIV8|A6NJU5	Missense_Mutation	SNP	ENST00000381906.1	37	c.314G>C	CCDS31333.1	.	.	.	.	.	.	.	.	.	.	g	15.52	2.858475	0.51376	.	.	ENSG00000130598	ENST00000381911;ENST00000381906;ENST00000252898;ENST00000381905	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	2.92	2.92	0.33932	.	0.000000	0.85682	D	0.000000	D	0.97176	0.9077	M	0.86573	2.825	0.80722	D	1	D;D	0.76494	0.999;0.994	D;D	0.81914	0.995;0.933	D	0.97439	1.0020	10	0.54805	T	0.06	-0.0192	15.0363	0.71751	0.0:0.0:1.0:0.0	.	105;105	A6NIV8;P48788	.;TNNI2_HUMAN	A	105	ENSP00000371336:G105A;ENSP00000371331:G105A;ENSP00000252898:G105A;ENSP00000371330:G105A	ENSP00000252898:G105A	G	+	2	0	TNNI2	1818874	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	7.072000	0.76777	1.945000	0.56424	0.313000	0.20887	GGC		0.677	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034046.2	NM_003282		9	32	0	0	0	1	0	9	32				
CDH6	1004	broad.mit.edu	37	5	31297440	31297440	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:31297440A>G	ENST00000265071.2	+	4	833	c.568A>G	c.(568-570)Aca>Gca	p.T190A	CDH6_ENST00000514738.1_Missense_Mutation_p.T135A	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	190	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGATGATCCAACATATGGGAA	0.368																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(568-570)Aca>Gca		cadherin 6, type 2, K-cadherin (fetal kidney)							166.0	154.0	158.0					5																	31297440		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31297440A>G	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.568A>G	5.37:g.31297440A>G	ENSP00000265071:p.Thr190Ala					CDH6_ENST00000514738.1_Missense_Mutation_p.T135A	p.T190A	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			4	833	+			190			Cadherin 2.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.568A>G	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.362506	0.61403	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.58652	0.32;0.32	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.53270	0.1786	L	0.47716	1.5	0.80722	D	1	B;B	0.15719	0.014;0.012	B;B	0.14023	0.01;0.006	T	0.52388	-0.8582	10	0.62326	D	0.03	.	15.6969	0.77506	1.0:0.0:0.0:0.0	.	190;190	P55285;P55285-2	CADH6_HUMAN;.	A	135;190	ENSP00000424843:T135A;ENSP00000265071:T190A	ENSP00000265071:T190A	T	+	1	0	CDH6	31333197	1.000000	0.71417	0.988000	0.46212	0.745000	0.42441	7.461000	0.80834	2.182000	0.69389	0.482000	0.46254	ACA		0.368	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		24	72	0	0	0	1	0	24	72				
ARHGAP30	257106	broad.mit.edu	37	1	161021404	161021404	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:161021404G>A	ENST00000368013.3	-	10	1440	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.P197S|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.P374S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	374					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCTGCCTCAGGCTCCTGTTCA	0.652																																						ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1120-1122)Cct>Tct		Rho GTPase activating protein 30							64.0	56.0	59.0					1																	161021404		2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161021404G>A	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.1120C>T	1.37:g.161021404G>A	ENSP00000356992:p.Pro374Ser					ARHGAP30_ENST00000368015.1_Missense_Mutation_p.P197S|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.P374S	p.P374S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		10	1440	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		374					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.1120C>T	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.241984	0.22796	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	T;T;T	0.31510	3.06;3.01;1.49	4.74	0.00916	0.14078	.	0.816165	0.10652	N	0.649823	T	0.08358	0.0208	L	0.32530	0.975	0.09310	N	1	B;B	0.24426	0.017;0.103	B;B	0.25140	0.01;0.058	T	0.35992	-0.9766	10	0.42905	T	0.14	.	6.2851	0.21029	0.0:0.3118:0.3212:0.367	.	374;374	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	S	374;374;226;197	ENSP00000356995:P374S;ENSP00000356992:P374S;ENSP00000356994:P197S	ENSP00000356992:P374S	P	-	1	0	ARHGAP30	159288028	0.088000	0.21588	0.375000	0.26029	0.485000	0.33311	0.471000	0.22100	0.430000	0.26230	0.555000	0.69702	CCT		0.652	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		34	85	0	0	0	1	0	34	85				
BTBD7	55727	broad.mit.edu	37	14	93712550	93712550	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:93712550A>G	ENST00000334746.5	-	10	2511	c.2204T>C	c.(2203-2205)gTa>gCa	p.V735A	BTBD7_ENST00000393170.2_Missense_Mutation_p.V309A|BTBD7_ENST00000554565.1_Missense_Mutation_p.V384A	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	735					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGTACTGTTTACGCGACATCT	0.473																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(2203-2205)gTa>gCa		BTB (POZ) domain containing 7							126.0	124.0	125.0					14																	93712550		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93712550A>G	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2204T>C	14.37:g.93712550A>G	ENSP00000335615:p.Val735Ala					BTBD7_ENST00000554565.1_Missense_Mutation_p.V384A|BTBD7_ENST00000393170.2_Missense_Mutation_p.V309A	p.V735A	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	10	2511	-		all_cancers(154;0.08)	735					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.2204T>C	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.375303	0.61735	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.58060	0.72;0.36	5.75	5.75	0.90469	.	0.164028	0.53938	D	0.000045	T	0.43277	0.1240	N	0.24115	0.695	0.54753	D	0.999982	P;P;B	0.37663	0.604;0.592;0.119	B;B;B	0.38264	0.269;0.169;0.062	T	0.44003	-0.9356	10	0.51188	T	0.08	.	16.0605	0.80836	1.0:0.0:0.0:0.0	.	309;384;735	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	A	735;384;350;309	ENSP00000335615:V735A;ENSP00000451010:V384A	ENSP00000335615:V735A	V	-	2	0	BTBD7	92782303	0.996000	0.38824	0.497000	0.27552	0.821000	0.46438	6.946000	0.75953	2.193000	0.70182	0.528000	0.53228	GTA		0.473	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		53	202	0	0	0	1	0	53	202				
CYFIP1	23191	broad.mit.edu	37	15	22929841	22929841	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:22929841A>G	ENST00000313077.7	+	6	640	c.515A>G	c.(514-516)gAc>gGc	p.D172G	CYFIP1_ENST00000560848.1_Missense_Mutation_p.D172G	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCTGTGCTGGACGAGCTGAAG	0.577																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(514-516)gAc>gGc		cytoplasmic FMR1 interacting protein 1							133.0	102.0	112.0					15																	22929841		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22929841A>G	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.515A>G	15.37:g.22929841A>G	ENSP00000324549:p.Asp172Gly					CYFIP1_ENST00000560848.1_Missense_Mutation_p.D172G	p.D172G	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	6	640	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	172						Missense_Mutation	SNP	ENST00000313077.7	37	c.515A>G	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.541987	0.85917	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.44083	0.93	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.68339	0.2990	M	0.87547	2.89	0.80722	D	1	D;P	0.69078	0.997;0.778	D;P	0.73380	0.98;0.611	T	0.75631	-0.3251	10	0.87932	D	0	-17.6288	14.8487	0.70281	1.0:0.0:0.0:0.0	.	200;172	E7EQ04;Q7L576	.;CYFP1_HUMAN	G	172;200	ENSP00000324549:D172G	ENSP00000324549:D172G	D	+	2	0	CYFIP1	20481282	1.000000	0.71417	0.958000	0.39756	0.761000	0.43186	9.141000	0.94612	1.974000	0.57490	0.459000	0.35465	GAC		0.577	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		6	71	0	0	0	1	0	6	71				
NCALD	83988	broad.mit.edu	37	8	102701613	102701613	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:102701613A>G	ENST00000311028.3	-	7	884	c.506T>C	c.(505-507)tTc>tCc	p.F169S	KB-1107E3.1_ENST00000518749.1_RNA|NCALD_ENST00000522951.1_Intron|NCALD_ENST00000521599.1_Missense_Mutation_p.F169S|NCALD_ENST00000395923.1_Missense_Mutation_p.F169S|NCALD_ENST00000220931.6_Missense_Mutation_p.F169S|NCALD_ENST00000519508.2_Missense_Mutation_p.F169S	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	169	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			TCCTCGGATGAACTCTTCCAG	0.602																																						ENST00000395923.1																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(505-507)tTc>tCc		neurocalcin delta							50.0	43.0	45.0					8																	102701613		2203	4300	6503	SO:0001583	missense	83988				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding	g.chr8:102701613A>G	AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"""EF-hand domain containing"""	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.506T>C	8.37:g.102701613A>G	ENSP00000310587:p.Phe169Ser					NCALD_ENST00000522951.1_Intron|NCALD_ENST00000311028.3_Missense_Mutation_p.F169S|NCALD_ENST00000220931.6_Missense_Mutation_p.F169S|NCALD_ENST00000519508.2_Missense_Mutation_p.F169S|NCALD_ENST00000521599.1_Missense_Mutation_p.F169S	p.F169S	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)		6	965	-	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		169			EF-hand 4.		P29554|Q8IYC3|Q9H0W2	Missense_Mutation	SNP	ENST00000311028.3	37	c.506T>C	CCDS6292.1	.	.	.	.	.	.	.	.	.	.	a	32	5.130913	0.94473	.	.	ENSG00000104490	ENST00000395923;ENST00000311028;ENST00000220931;ENST00000521599;ENST00000519508	D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55	5.32	5.32	0.75619	EF-hand-like domain (1);	.	.	.	.	D	0.93713	0.7991	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95498	0.8575	9	0.87932	D	0	.	15.5903	0.76523	1.0:0.0:0.0:0.0	.	169	P61601	NCALD_HUMAN	S	169	ENSP00000379256:F169S;ENSP00000310587:F169S;ENSP00000220931:F169S;ENSP00000428105:F169S;ENSP00000430476:F169S	ENSP00000220931:F169S	F	-	2	0	NCALD	102770789	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.279000	0.95777	2.143000	0.66587	0.529000	0.55759	TTC		0.602	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380732.2			6	24	0	0	0	1	0	6	24				
PLXNA1	5361	broad.mit.edu	37	3	126724000	126724000	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:126724000C>T	ENST00000393409.2	+	6	1811	c.1811C>T	c.(1810-1812)aCg>aTg	p.T604M	PLXNA1_ENST00000251772.4_Missense_Mutation_p.T581M	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	604					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GAGGACTTCACGGAATCTGAG	0.672																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(1810-1812)aCg>aTg		plexin A1							54.0	44.0	47.0					3																	126724000		2199	4298	6497	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126724000C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1811C>T	3.37:g.126724000C>T	ENSP00000377061:p.Thr604Met					PLXNA1_ENST00000251772.4_Missense_Mutation_p.T581M	p.T604M	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	6	1811	+			604						Missense_Mutation	SNP	ENST00000393409.2	37	c.1811C>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033419	0.35893	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.10288	2.89;2.89	3.4	3.4	0.38934	.	1.571000	0.04955	N	0.460909	T	0.15998	0.0385	M	0.62723	1.935	0.47584	D	0.99946	B	0.33073	0.396	B	0.22601	0.04	T	0.29243	-1.0018	10	0.52906	T	0.07	.	15.3845	0.74687	0.0:1.0:0.0:0.0	.	604	Q9UIW2	PLXA1_HUMAN	M	604;581	ENSP00000377061:T604M;ENSP00000251772:T581M	ENSP00000251772:T581M	T	+	2	0	PLXNA1	128206690	0.991000	0.36638	0.937000	0.37676	0.573000	0.36030	3.044000	0.49830	1.927000	0.55829	0.313000	0.20887	ACG		0.672	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		14	31	0	0	0	1	0	14	31				
WNK2	65268	broad.mit.edu	37	9	96069102	96069102	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:96069102T>C	ENST00000297954.4	+	27	6369	c.6369T>C	c.(6367-6369)agT>agC	p.S2123S	WNK2_ENST00000349097.3_Splice_Site_p.S1735S|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Splice_Site_p.S1698S|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000395477.2_Splice_Site_p.S2086S	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2123					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						AACACAGCAGTAGTAATTATC	0.567																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.e27+1		WNK lysine deficient protein kinase 2							521.0	528.0	526.0					9																	96069102		2203	4300	6503	SO:0001630	splice_region_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96069102T>C	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6370+1T>C	9.37:g.96069102T>C						WNK2_ENST00000395477.2_Splice_Site_p.S2086_splice|WNK2_ENST00000427277.2_Splice_Site_p.S1698_splice|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Splice_Site_p.S1735_splice|WNK2_ENST00000356055.3_3'UTR	p.S2123_splice			Q9Y3S1	WNK2_HUMAN			27	6369	+			2123					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Splice_Site	SNP	ENST00000297954.4	37	c.6370_splice		.	.	.	.	.	.	.	.	.	.	T	13.97	2.396014	0.42512	.	.	ENSG00000165238	ENST00000432730;ENST00000448251	.	.	.	5.34	4.21	0.49690	.	.	.	.	.	T	0.62221	0.2410	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59316	-0.7477	4	.	.	.	.	10.9245	0.47184	0.0:0.0735:0.0:0.9265	.	.	.	.	A	2082;883	.	.	V	+	2	0	WNK2	95108923	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.073000	0.71245	0.986000	0.38683	0.533000	0.62120	GTA		0.567	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648	Silent	5	303	0	0	0	1	0	5	303				
USP31	57478	broad.mit.edu	37	16	23079773	23079773	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:23079773T>C	ENST00000219689.7	-	16	3652	c.3653A>G	c.(3652-3654)gAc>gGc	p.D1218G	USP31_ENST00000567975.1_Missense_Mutation_p.D511G	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AGACTTGCTGTCCCTCTTCAA	0.612																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(3652-3654)gAc>gGc		ubiquitin specific peptidase 31							86.0	93.0	91.0					16																	23079773		2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23079773T>C	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3653A>G	16.37:g.23079773T>C	ENSP00000219689:p.Asp1218Gly					USP31_ENST00000567975.1_Missense_Mutation_p.D511G	p.D1218G	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	3652	-			1218			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.3653A>G	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.553072	0.45487	.	.	ENSG00000103404	ENST00000219689	T	0.09630	2.96	5.8	5.8	0.92144	.	0.536628	0.17632	N	0.167356	T	0.23289	0.0563	L	0.48362	1.52	0.45307	D	0.998306	P;D	0.63880	0.905;0.993	B;P	0.58520	0.369;0.84	T	0.00261	-1.1868	10	0.44086	T	0.13	-25.4769	15.3361	0.74255	0.0:0.0:0.0:1.0	.	1218;511	Q70CQ4;B3KS48	UBP31_HUMAN;.	G	1218	ENSP00000219689:D1218G	ENSP00000219689:D1218G	D	-	2	0	USP31	22987274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.919000	0.48836	2.209000	0.71365	0.533000	0.62120	GAC		0.612	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		4	216	0	0	0	1	0	4	216				
HSPA12A	259217	broad.mit.edu	37	10	118434729	118434729	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:118434729G>A	ENST00000369209.3	-	12	1695	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	531						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GGCGACCGGCGCACCTTGATG	0.652																																						ENST00000369209.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1591-1593)Cgc>Tgc		heat shock 70kDa protein 12A							35.0	41.0	39.0					10																	118434729		2073	4184	6257	SO:0001583	missense	259217						ATP binding	g.chr10:118434729G>A	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1591C>T	10.37:g.118434729G>A	ENSP00000358211:p.Arg531Cys						p.R531C	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN		all cancers(201;0.0158)	12	1695	-			531						Missense_Mutation	SNP	ENST00000369209.3	37	c.1591C>T	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867833	0.72065	.	.	ENSG00000165868	ENST00000369209	T	0.69685	-0.42	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.85775	0.5775	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87378	0.2355	10	0.87932	D	0	.	20.1379	0.98040	0.0:0.0:1.0:0.0	.	531	O43301	HS12A_HUMAN	C	531	ENSP00000358211:R531C	ENSP00000358211:R531C	R	-	1	0	HSPA12A	118424719	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	9.476000	0.97823	2.779000	0.95612	0.655000	0.94253	CGC		0.652	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		27	55	0	0	0	1	0	27	55				
CC2D1A	54862	broad.mit.edu	37	19	14040401	14040401	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:14040401T>C	ENST00000318003.7	+	26	2879	c.2638T>C	c.(2638-2640)Tac>Cac	p.Y880H	CC2D1A_ENST00000589606.1_Missense_Mutation_p.Y879H	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	880					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGCCCAGCAGTACCAGGACAT	0.662																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(2638-2640)Tac>Cac		coiled-coil and C2 domain containing 1A							12.0	15.0	14.0					19																	14040401		2015	4176	6191	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14040401T>C	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.2638T>C	19.37:g.14040401T>C	ENSP00000313601:p.Tyr880His					CC2D1A_ENST00000589606.1_Missense_Mutation_p.Y879H	p.Y880H	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		26	2879	+			880					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.2638T>C	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	T	11.55	1.670818	0.29693	.	.	ENSG00000132024	ENST00000318003;ENST00000254346	T	0.33216	1.42	4.89	3.87	0.44632	.	0.236528	0.35739	N	0.003012	T	0.23611	0.0571	L	0.42245	1.32	0.31271	N	0.691736	B;B;B	0.18461	0.008;0.028;0.019	B;B;B	0.21917	0.006;0.037;0.005	T	0.16158	-1.0412	10	0.33940	T	0.23	-9.1991	6.3602	0.21425	0.0:0.2773:0.0:0.7227	.	501;879;880	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	H	880;502	ENSP00000313601:Y880H	ENSP00000254346:Y502H	Y	+	1	0	CC2D1A	13901401	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.427000	0.34881	0.722000	0.32252	0.402000	0.26972	TAC		0.662	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		3	26	0	0	0	1	0	3	26				
ZBTB6	10773	broad.mit.edu	37	9	125673354	125673354	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:125673354T>C	ENST00000373659.3	-	2	1086	c.998A>G	c.(997-999)aAa>aGa	p.K333R		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TGTAAATGTTTTTCCGCACTG	0.448																																						ENST00000373659.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						c.(997-999)aAa>aGa		zinc finger and BTB domain containing 6							78.0	81.0	80.0					9																	125673354		2203	4300	6503	SO:0001583	missense	10773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125673354T>C	X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.998A>G	9.37:g.125673354T>C	ENSP00000362763:p.Lys333Arg						p.K333R	NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN			2	1086	-			333					A8K8N6	Missense_Mutation	SNP	ENST00000373659.3	37	c.998A>G	CCDS6846.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.843695	0.71488	.	.	ENSG00000186130	ENST00000373659	T	0.20738	2.05	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.35566	0.0936	L	0.58510	1.815	0.44619	D	0.997599	P	0.46987	0.888	P	0.51701	0.677	T	0.04551	-1.0943	10	0.66056	D	0.02	.	15.7569	0.78037	0.0:0.0:0.0:1.0	.	333	Q15916	ZBTB6_HUMAN	R	333	ENSP00000362763:K333R	ENSP00000362763:K333R	K	-	2	0	ZBTB6	124713175	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.997000	0.88414	2.371000	0.80710	0.533000	0.62120	AAA		0.448	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053962.1	NM_006626		5	116	0	0	0	1	0	5	116				
HDAC2	3066	broad.mit.edu	37	6	114270368	114270368	+	Silent	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:114270368A>T	ENST00000519065.1	-	7	1072	c.696T>A	c.(694-696)ggT>ggA	p.G232G	HDAC2_ENST00000368632.2_Silent_p.G202G|HDAC2_ENST00000519108.1_Silent_p.G202G|HDAC2_ENST00000398283.2_Silent_p.G326G			Q92769	HDAC2_HUMAN	histone deacetylase 2	232	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	CATCATCTATACCATCTCTCA	0.303																																						ENST00000519065.1																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(694-696)ggT>ggA		histone deacetylase 2	Vorinostat(DB02546)						141.0	130.0	133.0					6																	114270368		1837	4087	5924	SO:0001819	synonymous_variant	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114270368A>T	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.696T>A	6.37:g.114270368A>T						HDAC2_ENST00000368632.2_Silent_p.G202G|HDAC2_ENST00000519108.1_Silent_p.G202G|HDAC2_ENST00000398283.2_Silent_p.G326G	p.G232G			Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	7	1072	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	232			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Silent	SNP	ENST00000519065.1	37	c.696T>A	CCDS43493.2																																																																																				0.303	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			23	46	0	0	0	1	0	23	46				
DNAH10	196385	broad.mit.edu	37	12	124330404	124330404	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124330404T>C	ENST00000409039.3	+	30	5289	c.5264T>C	c.(5263-5265)tTc>tCc	p.F1755S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1755	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTTGATTCTTTCATAAGAGGC	0.468																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5263-5265)tTc>tCc		dynein, axonemal, heavy chain 10							139.0	139.0	139.0					12																	124330404		1915	4127	6042	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124330404T>C	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5264T>C	12.37:g.124330404T>C	ENSP00000386770:p.Phe1755Ser						p.F1755S	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	30	5289	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1755			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5264T>C	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	20.8	4.048108	0.75846	.	.	ENSG00000197653	ENST00000409039	T	0.21932	1.98	5.56	5.56	0.83823	.	0.076281	0.53938	U	0.000056	T	0.57755	0.2075	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.70400	-0.4882	10	0.87932	D	0	.	15.714	0.77652	0.0:0.0:0.0:1.0	.	1755	Q8IVF4	DYH10_HUMAN	S	1755	ENSP00000386770:F1755S	ENSP00000386770:F1755S	F	+	2	0	DNAH10	122896357	1.000000	0.71417	0.982000	0.44146	0.639000	0.38242	7.836000	0.86788	2.099000	0.63709	0.459000	0.35465	TTC		0.468	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			47	214	0	0	0	1	0	47	214				
SETMAR	6419	broad.mit.edu	37	3	4355021	4355021	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:4355021A>G	ENST00000358065.4	+	2	663	c.596A>G	c.(595-597)cAt>cGt	p.H199R	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.H199R|SETMAR_ENST00000425863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	199	Histone-lysine N-methyltransferase.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		ATCAGGGAACATGTTTATAAT	0.358								Chromatin Structure																														ENST00000358065.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9						c.(595-597)cAt>cGt	Chromatin Structure	SET domain and mariner transposase fusion gene							80.0	83.0	82.0					3																	4355021		2203	4300	6503	SO:0001583	missense	6419				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding	g.chr3:4355021A>G	U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.596A>G	3.37:g.4355021A>G	ENSP00000373354:p.His199Arg					SETMAR_ENST00000430981.1_Missense_Mutation_p.H199R|SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron	p.H199R	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)	2	663	+		Melanoma(143;0.0657)	186			Histone-lysine N-methyltransferase.|SET.		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	ENST00000358065.4	37	c.596A>G	CCDS2563.2	.	.	.	.	.	.	.	.	.	.	A	12.47	1.947404	0.34377	.	.	ENSG00000170364	ENST00000358065;ENST00000430981	T;T	0.81163	-1.46;-1.46	5.17	4.02	0.46733	SET domain (3);	.	.	.	.	D	0.88912	0.6566	M	0.84846	2.72	0.80722	D	1	D;D	0.65815	0.995;0.991	D;D	0.67900	0.954;0.933	D	0.89104	0.3491	9	0.87932	D	0	.	10.7466	0.46183	0.9254:0.0:0.0746:0.0	.	186;199	Q53H47;C9JHK2	SETMR_HUMAN;.	R	199	ENSP00000373354:H199R;ENSP00000403000:H199R	ENSP00000373354:H199R	H	+	2	0	SETMAR	4330021	1.000000	0.71417	0.035000	0.18076	0.069000	0.16628	6.988000	0.76212	0.814000	0.34374	0.528000	0.53228	CAT		0.358	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515		9	90	0	0	0	1	0	9	90				
MKRN3	7681	broad.mit.edu	37	15	23811044	23811044	+	Missense_Mutation	SNP	G	G	A	rs151216955		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:23811044G>A	ENST00000314520.3	+	1	591	c.115G>A	c.(115-117)Ggg>Agg	p.G39R	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Missense_Mutation_p.G39R|MKRN3_ENST00000568252.1_Missense_Mutation_p.G39R	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	39					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGAGCCCTCCGGGGAATCTGC	0.687																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(115-117)Ggg>Agg		makorin ring finger protein 3							32.0	37.0	35.0					15																	23811044		2202	4300	6502	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811044G>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.115G>A	15.37:g.23811044G>A	ENSP00000313881:p.Gly39Arg					MKRN3_ENST00000568252.1_Missense_Mutation_p.G39R|MKRN3_ENST00000564592.1_Missense_Mutation_p.G39R	p.G39R	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	591	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	39						Missense_Mutation	SNP	ENST00000314520.3	37	c.115G>A	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	g	8.032	0.762055	0.15914	.	.	ENSG00000179455	ENST00000314520	T	0.32515	1.45	3.22	-4.02	0.04034	.	0.472042	0.17640	N	0.167071	T	0.11836	0.0288	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.001;0.005	B;B	0.04013	0.001;0.001	T	0.15723	-1.0427	10	0.24483	T	0.36	.	8.8761	0.35345	0.1476:0.1692:0.6832:0.0	.	39;39	Q6NSB6;Q13064	.;MKRN3_HUMAN	R	39	ENSP00000313881:G39R	ENSP00000313881:G39R	G	+	1	0	MKRN3	21362137	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.420000	0.07062	-1.432000	0.01979	-2.010000	0.00438	GGG		0.687	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		15	42	0	0	0	1	0	15	42				
TNRC18	84629	broad.mit.edu	37	7	5348802	5348802	+	Silent	SNP	G	G	A	rs375916594		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:5348802G>A	ENST00000430969.1	-	28	8934	c.8586C>T	c.(8584-8586)ccC>ccT	p.P2862P	TNRC18_ENST00000399537.4_Silent_p.P2862P	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2862	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGGTCTCCTCGGGGTGGTAGA	0.692																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(8584-8586)ccC>ccT		trinucleotide repeat containing 18		G		0,3900		0,0,1950	29.0	31.0	30.0		8586	-10.3	0.5	7		30	4,8248		0,4,4122	no	coding-synonymous	TNRC18	NM_001080495.2		0,4,6072	AA,AG,GG		0.0485,0.0,0.0329		2862/2969	5348802	4,12148	1950	4126	6076	SO:0001819	synonymous_variant	84629						DNA binding	g.chr7:5348802G>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8586C>T	7.37:g.5348802G>A						TNRC18_ENST00000430969.1_Silent_p.P2862P	p.P2862P			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	28	8934	-		Ovarian(82;0.142)	2862			BAH.		A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	c.8586C>T	CCDS47534.1																																																																																				0.692	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				12	46	0	0	0	1	0	12	46				
DNAH11	8701	broad.mit.edu	37	7	21677247	21677247	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:21677247G>A	ENST00000409508.3	+	27	4775	c.4744G>A	c.(4744-4746)Gcc>Acc	p.A1582T	DNAH11_ENST00000328843.6_Missense_Mutation_p.A1587T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1587	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTTCAAGACAGCCAAAGTAGA	0.318									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(4759-4761)Gcc>Acc		dynein, axonemal, heavy chain 11							70.0	67.0	68.0					7																	21677247		1841	4092	5933	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21677247G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4744G>A	7.37:g.21677247G>A	ENSP00000475939:p.Ala1582Thr					DNAH11_ENST00000409508.3_Missense_Mutation_p.A1582T	p.A1587T			Q96DT5	DYH11_HUMAN			27	4790	+			1587			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.4759G>A		.	.	.	.	.	.	.	.	.	.	G	13.59	2.282957	0.40394	.	.	ENSG00000105877	ENST00000328843	T	0.61510	0.1	5.97	5.97	0.96955	Dynein heavy chain, domain-2 (1);	0.222310	0.42548	D	0.000682	T	0.59797	0.2220	.	.	.	0.40186	D	0.977356	P	0.43231	0.801	P	0.46419	0.516	T	0.52646	-0.8548	9	0.21540	T	0.41	.	19.1953	0.93686	0.0:0.0:1.0:0.0	.	1587	Q96DT5	DYH11_HUMAN	T	1587	ENSP00000330671:A1587T	ENSP00000330671:A1587T	A	+	1	0	DNAH11	21643772	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	3.804000	0.55568	2.834000	0.97654	0.650000	0.86243	GCC		0.318	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		3	6	0	0	0	1	0	3	6				
TTN	7273	broad.mit.edu	37	2	179458948	179458948	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179458948T>C	ENST00000591111.1	-	247	53473	c.53249A>G	c.(53248-53250)gAc>gGc	p.D17750G	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D16823G|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D19391G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10451G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10518G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10326G|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17750	Ig-like 104.				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)			ATCTCTGAAGTCGAGGTGAAG	0.403																																						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.(58171-58173)gAc>gGc		titin							63.0	59.0	60.0					2																	179458948		1886	4117	6003	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179458948T>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.53249A>G	2.37:g.179458948T>C	ENSP00000465570:p.Asp17750Gly					TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10326G|TTN_ENST00000342992.6_Missense_Mutation_p.D16823G|TTN_ENST00000591111.1_Missense_Mutation_p.D17750G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10451G|TTN_ENST00000342175.6_Missense_Mutation_p.D10518G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.D19391G	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)		297	58396	-			17750			Fibronectin type-III 40.		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.58172A>G		.	.	.	.	.	.	.	.	.	.	T	14.92	2.680500	0.47886	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66099	-0.19;0.07;0.04;0.02	6.17	5.03	0.67393	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65091	0.2658	M	0.73217	2.22	0.54753	D	0.99998	P;P;P;P	0.40000	0.698;0.698;0.698;0.698	B;B;B;B	0.42625	0.393;0.393;0.393;0.393	T	0.68250	-0.5458	9	0.87932	D	0	.	12.1016	0.53788	0.0:0.0662:0.0:0.9338	.	10326;10451;10518;17750	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	16823;10326;10518;10451;10324	ENSP00000343764:D16823G;ENSP00000434586:D10326G;ENSP00000340554:D10518G;ENSP00000352154:D10451G	ENSP00000340554:D10518G	D	-	2	0	TTN	179167194	1.000000	0.71417	0.988000	0.46212	0.989000	0.77384	6.240000	0.72363	1.165000	0.42670	0.533000	0.62120	GAC		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	81	0	0	0	1	0	5	81				
MYO15A	51168	broad.mit.edu	37	17	18022349	18022349	+	Missense_Mutation	SNP	G	G	A	rs201749134		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:18022349G>A	ENST00000205890.5	+	2	573	c.235G>A	c.(235-237)Gtg>Atg	p.V79M		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	79					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGCCCGCACCGTGCTCAAGTC	0.617																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(235-237)Gtg>Atg		myosin XVA							14.0	17.0	16.0					17																	18022349		1969	4131	6100	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18022349G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.235G>A	17.37:g.18022349G>A	ENSP00000205890:p.Val79Met						p.V79M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	573	+	all_neural(463;0.228)		79			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.235G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721722	0.30503	.	.	ENSG00000091536	ENST00000205890	D	0.89050	-2.46	5.19	5.19	0.71726	.	.	.	.	.	T	0.76615	0.4012	N	0.17082	0.46	0.22457	N	0.999089	P	0.45569	0.861	B	0.32465	0.146	T	0.68857	-0.5298	9	0.39692	T	0.17	.	9.7699	0.40582	0.0944:0.0:0.9056:0.0	.	79	Q9UKN7	MYO15_HUMAN	M	79	ENSP00000205890:V79M	ENSP00000205890:V79M	V	+	1	0	MYO15A	17963074	0.993000	0.37304	0.919000	0.36401	0.546000	0.35178	2.294000	0.43567	2.421000	0.82119	0.561000	0.74099	GTG		0.617	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		7	23	0	0	0	1	0	7	23				
PLEKHG6	55200	broad.mit.edu	37	12	6436589	6436589	+	Missense_Mutation	SNP	C	C	T	rs373575546		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:6436589C>T	ENST00000396988.3	+	15	2070	c.1840C>T	c.(1840-1842)Cgg>Tgg	p.R614W	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R614W|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.R582W|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.R144W	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	614						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AAGAGCCCTTCGGCGGGACCC	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		14187	0.001		0.0	False		,,,				2504	0.0					ENST00000449001.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						c.(1744-1746)Cgg>Tgg		pleckstrin homology domain containing, family G (with RhoGef domain) member 6		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	81.0	85.0	84.0		1840,1744,1840	4.0	0.9	12		84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PLEKHG6	NM_001144856.1,NM_001144857.1,NM_018173.3	101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	614/791,582/759,614/791	6436589	1,13005	2203	4300	6503	SO:0001583	missense	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6436589C>T	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1840C>T	12.37:g.6436589C>T	ENSP00000380185:p.Arg614Trp					PLEKHG6_ENST00000396988.3_Missense_Mutation_p.R614W|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R614W|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.R144W	p.R582W	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN			14	2238	+			614					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	c.1744C>T	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832309	0.71258	0.0	1.16E-4	ENSG00000008323	ENST00000011684;ENST00000396988;ENST00000449001;ENST00000304581	T;T;T	0.65916	-0.06;-0.06;-0.18	4.93	4.03	0.46877	.	0.000000	0.51477	D	0.000093	T	0.67496	0.2899	L	0.36672	1.1	0.37462	D	0.915242	D;D	0.89917	1.0;0.999	D;D	0.68765	0.96;0.913	T	0.72590	-0.4247	10	0.66056	D	0.02	-28.955	10.4319	0.44413	0.1946:0.8054:0.0:0.0	.	582;614	Q3KR16-2;Q3KR16	.;PKHG6_HUMAN	W	614;614;582;144	ENSP00000011684:R614W;ENSP00000380185:R614W;ENSP00000393194:R582W	ENSP00000011684:R614W	R	+	1	2	PLEKHG6	6306850	0.884000	0.30299	0.926000	0.36857	0.949000	0.60115	0.988000	0.29616	1.275000	0.44379	0.561000	0.74099	CGG		0.667	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		50	226	0	0	0	1	0	50	226				
CDH22	64405	broad.mit.edu	37	20	44815539	44815539	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:44815539C>G	ENST00000372262.3	-	8	1871	c.1471G>C	c.(1471-1473)Gat>Cat	p.D491H	CDH22_ENST00000537909.1_Missense_Mutation_p.D491H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	491	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCGTTCACATCCAGGATTCGG	0.577																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1471-1473)Gat>Cat		cadherin 22, type 2							245.0	220.0	228.0					20																	44815539		2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44815539C>G	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1471G>C	20.37:g.44815539C>G	ENSP00000361336:p.Asp491His					CDH22_ENST00000537909.1_Missense_Mutation_p.D491H	p.D491H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			8	1871	-		Myeloproliferative disorder(115;0.0122)	491			Cadherin 4.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1471G>C	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291173	0.80914	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.67698	-0.28;-0.28	4.12	4.12	0.48240	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.307905	0.34088	N	0.004274	D	0.82356	0.5019	H	0.99261	4.49	0.58432	D	0.999999	P	0.50710	0.938	B	0.43916	0.436	D	0.90599	0.4543	10	0.87932	D	0	.	15.5603	0.76240	0.0:1.0:0.0:0.0	.	491	Q9UJ99	CAD22_HUMAN	H	491	ENSP00000361336:D491H;ENSP00000437790:D491H	ENSP00000361336:D491H	D	-	1	0	CDH22	44248946	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.636000	0.83301	2.151000	0.67156	0.442000	0.29010	GAT		0.577	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		62	230	0	0	0	1	0	62	230				
DPYSL3	1809	broad.mit.edu	37	5	146798109	146798109	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:146798109C>T	ENST00000398514.3	-	3	585	c.214G>A	c.(214-216)Gtc>Atc	p.V72I	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000343218.5_Missense_Mutation_p.V186I	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	72					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGTATGGACATCGATGCCT	0.483																																						ENST00000343218.5																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(556-558)Gtc>Atc		dihydropyrimidinase-like 3							230.0	227.0	228.0					5																	146798109		2057	4224	6281	SO:0001583	missense	1809				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	g.chr5:146798109C>T	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.214G>A	5.37:g.146798109C>T	ENSP00000381526:p.Val72Ile					DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000398514.3_Missense_Mutation_p.V72I	p.V186I	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	753	-			72					B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	c.556G>A	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301432	0.60195	.	.	ENSG00000113657	ENST00000398514;ENST00000343218;ENST00000512722	D;D;D	0.90133	-2.62;-2.62;-2.05	6.17	6.17	0.99709	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.052262	0.85682	D	0.000000	D	0.93061	0.7791	M	0.87097	2.86	0.80722	D	1	B;B	0.23128	0.08;0.025	B;B	0.29663	0.105;0.018	D	0.89327	0.3644	10	0.46703	T	0.11	-15.6315	20.8794	0.99867	0.0:1.0:0.0:0.0	.	186;72	B3SXQ8;Q14195	.;DPYL3_HUMAN	I	72;186;72	ENSP00000381526:V72I;ENSP00000343690:V186I;ENSP00000426720:V72I	ENSP00000343690:V186I	V	-	1	0	DPYSL3	146778302	1.000000	0.71417	0.986000	0.45419	0.979000	0.70002	3.126000	0.50477	2.941000	0.99782	0.655000	0.94253	GTC		0.483	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		53	160	0	0	0	1	0	53	160				
TRPV6	55503	broad.mit.edu	37	7	142571233	142571233	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:142571233C>A	ENST00000359396.3	-	13	2001	c.1756G>T	c.(1756-1758)Gcc>Tcc	p.A586S	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	586					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CGCTCATGGGCCACTCGCCAG	0.592																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1756-1758)Gcc>Tcc		transient receptor potential cation channel, subfamily V, member 6							117.0	108.0	111.0					7																	142571233		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142571233C>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1756G>T	7.37:g.142571233C>A	ENSP00000352358:p.Ala586Ser						p.A586S	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			13	2001	-	Melanoma(164;0.059)		586					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1756G>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806580	0.50421	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.86497	-2.13	5.57	4.67	0.58626	.	0.177237	0.50627	N	0.000111	D	0.86381	0.5919	M	0.76002	2.32	0.53688	D	0.999978	B	0.30021	0.265	B	0.33454	0.164	T	0.82532	-0.0410	10	0.16896	T	0.51	-22.6374	14.7095	0.69218	0.146:0.854:0.0:0.0	.	586	Q9H1D0	TRPV6_HUMAN	S	586;418	ENSP00000352358:A586S	ENSP00000310825:A418S	A	-	1	0	TRPV6	142281355	1.000000	0.71417	0.988000	0.46212	0.922000	0.55478	4.855000	0.62925	1.304000	0.44892	0.655000	0.94253	GCC		0.592	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		50	121	1	0	1.86633e-21	1	1.97029e-21	50	121				
ARHGEF16	27237	broad.mit.edu	37	1	3395015	3395015	+	Silent	SNP	C	C	T	rs201252576		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:3395015C>T	ENST00000378378.4	+	12	2058	c.1653C>T	c.(1651-1653)taC>taT	p.Y551Y	ARHGEF16_ENST00000413250.2_Silent_p.Y255Y|ARHGEF16_ENST00000378371.2_Silent_p.Y263Y|ARHGEF16_ENST00000378373.1_Silent_p.Y263Y	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	551	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TCCAGGACTACGCCCAGATGA	0.662																																						ENST00000378378.4																			0				lung(6)|ovary(1)	7						c.(1651-1653)taC>taT		Rho guanine nucleotide exchange factor (GEF) 16							93.0	86.0	88.0					1																	3395015		2198	4291	6489	SO:0001819	synonymous_variant	27237				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	g.chr1:3395015C>T	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1653C>T	1.37:g.3395015C>T						ARHGEF16_ENST00000378373.1_Silent_p.Y263Y|ARHGEF16_ENST00000378371.2_Silent_p.Y263Y|ARHGEF16_ENST00000413250.2_Silent_p.Y255Y	p.Y551Y	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	12	2058	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	551			PH.		Q86TF0|Q99434	Silent	SNP	ENST00000378378.4	37	c.1653C>T	CCDS46.2																																																																																				0.662	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448		52	111	0	0	0	1	0	52	111				
ZMYM2	7750	broad.mit.edu	37	13	20567602	20567602	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:20567602G>A	ENST00000382874.2	+	4	580	c.390G>A	c.(388-390)ggG>ggA	p.G130G	ZMYM2_ENST00000382881.3_Silent_p.G130G|ZMYM2_ENST00000382871.2_Silent_p.G130G|ZMYM2_ENST00000382869.3_Silent_p.G130G	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CAAATCAAGGGCAAGAGAAAA	0.383																																						ENST00000382869.3																			0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(388-390)ggG>ggA		zinc finger, MYM-type 2							72.0	75.0	74.0					13																	20567602		2082	4247	6329	SO:0001819	synonymous_variant	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20567602G>A	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.390G>A	13.37:g.20567602G>A						ZMYM2_ENST00000382871.2_Silent_p.G130G|ZMYM2_ENST00000382874.2_Silent_p.G130G|ZMYM2_ENST00000382881.3_Silent_p.G130G	p.G130G	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	3	641	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	130					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Silent	SNP	ENST00000382874.2	37	c.390G>A	CCDS45016.1																																																																																				0.383	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453		16	67	0	0	0	1	0	16	67				
ANKFY1	51479	broad.mit.edu	37	17	4086789	4086789	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:4086789A>G	ENST00000341657.4	-	14	1891	c.1856T>C	c.(1855-1857)aTg>aCg	p.M619T	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Missense_Mutation_p.M661T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.M619T|ANKFY1_ENST00000573722.1_5'Flank|Y_RNA_ENST00000516003.1_RNA	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	619					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCCATCCGACATGGTGTCATT	0.592																																						ENST00000341657.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1855-1857)aTg>aCg		ankyrin repeat and FYVE domain containing 1							73.0	73.0	73.0					17																	4086789		2095	4230	6325	SO:0001583	missense	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4086789A>G	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1856T>C	17.37:g.4086789A>G	ENSP00000343362:p.Met619Thr					ANKFY1_ENST00000570535.1_Missense_Mutation_p.M661T|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.M619T	p.M619T	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN			14	1891	-			619					A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.1856T>C		.	.	.	.	.	.	.	.	.	.	A	13.15	2.150551	0.37923	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	T	0.50277	0.75	5.36	4.27	0.50696	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	N	0.00670	-1.27	0.80722	D	1	B;B;B;B	0.15141	0.002;0.009;0.007;0.012	B;B;B;B	0.14578	0.011;0.009;0.005;0.009	T	0.13737	-1.0498	10	0.12430	T	0.62	-14.0924	10.7467	0.46185	0.9235:0.0:0.0765:0.0	.	560;619;619;661	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	T	619;560	ENSP00000343362:M619T	ENSP00000343362:M619T	M	-	2	0	ANKFY1	4033538	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.088000	0.71371	2.025000	0.59659	0.533000	0.62120	ATG		0.592	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		35	86	0	0	0	1	0	35	86				
ZNF414	84330	broad.mit.edu	37	19	8577283	8577283	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:8577283T>C	ENST00000255616.8	-	4	619	c.518A>G	c.(517-519)aAt>aGt	p.N173S	ZNF414_ENST00000393927.4_Missense_Mutation_p.N173S	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						GAAGTAGCGATTGGGTTTGTA	0.602																																						ENST00000393927.4																			0				lung(2)	2						c.(517-519)aAt>aGt		zinc finger protein 414							204.0	170.0	181.0					19																	8577283		2203	4300	6503	SO:0001583	missense	84330				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:8577283T>C	AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"""Zinc fingers, C2H2-type"""	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.518A>G	19.37:g.8577283T>C	ENSP00000255616:p.Asn173Ser					ZNF414_ENST00000255616.8_Missense_Mutation_p.N173S	p.N173S	NM_001146175.1	NP_001139647.1	Q96IQ9	ZN414_HUMAN			4	631	-			173					A8MY94	Missense_Mutation	SNP	ENST00000255616.8	37	c.518A>G	CCDS12205.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.259266	0.80246	.	.	ENSG00000133250	ENST00000393927;ENST00000255616	T;T	0.10668	2.85;2.85	4.92	4.92	0.64577	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.21347	0.0514	L	0.33668	1.02	0.41012	D	0.985019	D;D	0.67145	0.996;0.996	D;D	0.73380	0.98;0.98	T	0.01188	-1.1424	10	0.72032	D	0.01	-13.9958	12.2299	0.54482	0.0:0.0:0.0:1.0	.	173;173	Q96IQ9;A8MY94	ZN414_HUMAN;.	S	173	ENSP00000377504:N173S;ENSP00000255616:N173S	ENSP00000255616:N173S	N	-	2	0	ZNF414	8483283	1.000000	0.71417	0.993000	0.49108	0.956000	0.61745	4.279000	0.58953	1.969000	0.57287	0.459000	0.35465	AAT		0.602	ZNF414-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460199.2	NM_032370		22	73	0	0	0	1	0	22	73				
SMPD1	6609	broad.mit.edu	37	11	6412943	6412943	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:6412943G>A	ENST00000342245.4	+	2	816	c.648G>A	c.(646-648)ctG>ctA	p.L216L	SMPD1_ENST00000356761.2_Silent_p.L216L|SMPD1_ENST00000527275.1_Silent_p.L215L|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000299397.3_Silent_p.L216L	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	214					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	ATGACTACCTGGAGGGCACGG	0.682																																						ENST00000342245.4																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23						c.(646-648)ctG>ctA		sphingomyelin phosphodiesterase 1, acid lysosomal	Desipramine(DB01151)						29.0	30.0	30.0					11																	6412943		2200	4295	6495	SO:0001819	synonymous_variant	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6412943G>A	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.648G>A	11.37:g.6412943G>A						SMPD1_ENST00000527275.1_Silent_p.L215L|SMPD1_ENST00000356761.2_Silent_p.L216L|SMPD1_ENST00000299397.3_Silent_p.L216L|SMPD1_ENST00000533196.1_Intron	p.L216L	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	816	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	214					A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Silent	SNP	ENST00000342245.4	37	c.648G>A	CCDS44531.1																																																																																				0.682	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		10	54	0	0	0	1	0	10	54				
PELP1	27043	broad.mit.edu	37	17	4576371	4576371	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:4576371G>A	ENST00000574876.1	-	16	1932	c.1915C>T	c.(1915-1917)Cag>Tag	p.Q639*	PELP1_ENST00000572293.1_Nonsense_Mutation_p.Q689*|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000301396.4_Nonsense_Mutation_p.Q783*|PELP1_ENST00000269230.7_Nonsense_Mutation_p.Q551*|PELP1_ENST00000436683.2_Nonsense_Mutation_p.Q492*			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	639	Pro-rich.				cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CCCATGGGCTGCAGGGGAGGA	0.652																																						ENST00000301396.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(2347-2349)Cag>Tag		proline, glutamate and leucine rich protein 1							18.0	22.0	21.0					17																	4576371		1938	4087	6025	SO:0001587	stop_gained	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4576371G>A		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1915C>T	17.37:g.4576371G>A	ENSP00000461625:p.Gln639*					PELP1_ENST00000574876.1_Nonsense_Mutation_p.Q639*|PELP1_ENST00000572293.1_Nonsense_Mutation_p.Q689*|PELP1_ENST00000436683.2_Nonsense_Mutation_p.Q492*|PELP1_ENST00000269230.7_Nonsense_Mutation_p.Q551*	p.Q783*			Q8IZL8	PELP1_HUMAN			16	2572	-			639			Pro-rich.		O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Nonsense_Mutation	SNP	ENST00000574876.1	37	c.2347C>T	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	G	40	8.276610	0.98737	.	.	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	.	.	.	5.92	5.92	0.95590	.	0.100802	0.43579	D	0.000559	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-16.8488	15.8215	0.78648	0.0:0.0:1.0:0.0	.	.	.	.	X	783;551;492	.	ENSP00000269230:Q551X	Q	-	1	0	AC091153.1	4523120	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	6.797000	0.75150	2.804000	0.96469	0.655000	0.94253	CAG		0.652	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		15	29	0	0	0	1	0	15	29				
GNPTAB	79158	broad.mit.edu	37	12	102142891	102142891	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:102142891A>G	ENST00000299314.7	-	20	3943	c.3681T>C	c.(3679-3681)ttT>ttC	p.F1227F		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1227					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GCTCAGCAAAAAATGAGAATA	0.323																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3679-3681)ttT>ttC		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							103.0	105.0	104.0					12																	102142891		2203	4300	6503	SO:0001819	synonymous_variant	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102142891A>G	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.3681T>C	12.37:g.102142891A>G							p.F1227F	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			20	3943	-			1227					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Silent	SNP	ENST00000299314.7	37	c.3681T>C	CCDS9088.1																																																																																				0.323	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			19	119	0	0	0	1	0	19	119				
KIF16B	55614	broad.mit.edu	37	20	16478291	16478291	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:16478291A>T	ENST00000354981.2	-	11	1366	c.1209T>A	c.(1207-1209)agT>agA	p.S403R	KIF16B_ENST00000408042.1_Missense_Mutation_p.S403R|KIF16B_ENST00000355755.3_Missense_Mutation_p.S403R|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	403					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTTCCTCCATACTTAAAGCTG	0.303																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(1207-1209)agT>agA		kinesin family member 16B							72.0	78.0	76.0					20																	16478291		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16478291A>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1209T>A	20.37:g.16478291A>T	ENSP00000347076:p.Ser403Arg					KIF16B_ENST00000355755.3_Missense_Mutation_p.S403R|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.S403R	p.S403R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			11	1366	-			403					A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.1209T>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.554903	0.65425	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.71817	-0.6;-0.59;-0.59	5.68	3.45	0.39498	.	0.000000	0.85682	D	0.000000	T	0.79215	0.4408	M	0.71871	2.18	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.76575	0.988;0.988;0.988;0.973	T	0.75814	-0.3185	10	0.30854	T	0.27	.	8.175	0.31276	0.7847:0.0:0.2153:0.0	.	403;403;403;403	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	R	403	ENSP00000347076:S403R;ENSP00000347995:S403R;ENSP00000384164:S403R	ENSP00000347076:S403R	S	-	3	2	KIF16B	16426291	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.197000	0.42696	0.971000	0.38288	0.455000	0.32223	AGT		0.303	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		7	56	0	0	0	1	0	7	56				
GOLGA3	2802	broad.mit.edu	37	12	133393322	133393322	+	Silent	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:133393322C>G	ENST00000450791.2	-	2	393	c.210G>C	c.(208-210)ggG>ggC	p.G70G	GOLGA3_ENST00000545875.1_Silent_p.G70G|GOLGA3_ENST00000537452.1_Silent_p.G70G|GOLGA3_ENST00000456883.2_Silent_p.G70G|GOLGA3_ENST00000204726.3_Silent_p.G70G			Q08378	GOGA3_HUMAN	golgin A3	70	Pro-rich.		G -> E (in dbSNP:rs2291256).		intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTGGCGTTGGCCCGTTCTGAC	0.627																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(208-210)ggG>ggC		golgin A3							91.0	91.0	91.0					12																	133393322		2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133393322C>G	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.210G>C	12.37:g.133393322C>G						GOLGA3_ENST00000545875.1_Silent_p.G70G|GOLGA3_ENST00000456883.2_Silent_p.G70G|GOLGA3_ENST00000450791.2_Silent_p.G70G|GOLGA3_ENST00000537452.1_Silent_p.G70G	p.G70G	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	3	768	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	70		G -> E (in dbSNP:rs2291256).	Pro-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.210G>C	CCDS9281.1																																																																																				0.627	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		5	87	0	0	0	1	0	5	87				
STRIP2	57464	broad.mit.edu	37	7	129096403	129096403	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:129096403C>T	ENST00000249344.2	+	9	998	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S	STRIP2_ENST00000435494.2_Missense_Mutation_p.P320S	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	320					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											TGCCTCCCCGCCCTCTTACAC	0.597																																						ENST00000249344.2																			0											c.(958-960)Ccc>Tcc		striatin interacting protein 2							79.0	70.0	73.0					7																	129096403		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129096403C>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.958C>T	7.37:g.129096403C>T	ENSP00000249344:p.Pro320Ser					STRIP2_ENST00000435494.2_Missense_Mutation_p.P320S	p.P320S	NM_020704.2	NP_065755.1					9	998	+								Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.958C>T	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019035	0.93462	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.47869	0.84;0.83	5.8	5.8	0.92144	.	0.055166	0.64402	D	0.000001	T	0.71929	0.3398	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.68349	-0.5432	10	0.22706	T	0.39	-18.2914	18.6318	0.91363	0.0:1.0:0.0:0.0	.	320;320	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	S	320	ENSP00000249344:P320S;ENSP00000392393:P320S	ENSP00000249344:P320S	P	+	1	0	FAM40B	128883639	1.000000	0.71417	0.983000	0.44433	0.896000	0.52359	7.385000	0.79763	2.758000	0.94735	0.561000	0.74099	CCC		0.597	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		37	78	0	0	0	1	0	37	78				
NR4A3	8013	broad.mit.edu	37	9	102590878	102590878	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:102590878G>A	ENST00000395097.2	+	3	1283	c.554G>A	c.(553-555)gGc>gAc	p.G185D	NR4A3_ENST00000330847.1_Missense_Mutation_p.G196D|NR4A3_ENST00000338488.4_Missense_Mutation_p.G185D	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	185					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ACGGTGGCCGGCGCGCGCTTC	0.776			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(586-588)gGc>gAc		nuclear receptor subfamily 4, group A, member 3							4.0	4.0	4.0					9																	102590878		1287	2919	4206	SO:0001583	missense	8013				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590878G>A	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.554G>A	9.37:g.102590878G>A	ENSP00000378531:p.Gly185Asp					NR4A3_ENST00000395097.2_Missense_Mutation_p.G185D|NR4A3_ENST00000338488.4_Missense_Mutation_p.G185D	p.G196D			Q92570	NR4A3_HUMAN			2	631	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	185					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	c.587G>A	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922940	0.52653	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000395096;ENST00000330847	D;D;D	0.92048	-2.94;-2.53;-2.96	4.39	2.29	0.28610	.	2.254050	0.01385	N	0.013058	D	0.87736	0.6252	L	0.29908	0.895	0.24922	N	0.991974	B;B;B	0.34015	0.039;0.023;0.435	B;B;B	0.31812	0.059;0.026;0.136	T	0.77330	-0.2628	10	0.31617	T	0.26	.	9.999	0.41918	0.0:0.4266:0.5734:0.0	.	196;185;185	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	D	185;185;9;196	ENSP00000378531:G185D;ENSP00000340301:G185D;ENSP00000333122:G196D	ENSP00000333122:G196D	G	+	2	0	NR4A3	101630699	0.983000	0.35010	0.797000	0.32132	0.891000	0.51852	1.700000	0.37815	1.102000	0.41551	0.557000	0.71058	GGC		0.776	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			5	5	0	0	0	1	0	5	5				
SSFA2	6744	broad.mit.edu	37	2	182780567	182780567	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:182780567C>G	ENST00000431877.2	+	11	2379	c.2200C>G	c.(2200-2202)Cta>Gta	p.L734V	SSFA2_ENST00000320370.7_Missense_Mutation_p.L734V|SSFA2_ENST00000409001.1_Missense_Mutation_p.L734V|SSFA2_ENST00000409136.1_Missense_Mutation_p.L243V|SSFA2_ENST00000428267.2_Missense_Mutation_p.L581V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	734						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TGGCTATCCTCTAAGAAGGTC	0.423																																						ENST00000431877.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(2200-2202)Cta>Gta		sperm specific antigen 2							77.0	73.0	74.0					2																	182780567		2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182780567C>G	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2200C>G	2.37:g.182780567C>G	ENSP00000388731:p.Leu734Val					SSFA2_ENST00000320370.7_Missense_Mutation_p.L734V|SSFA2_ENST00000409001.1_Missense_Mutation_p.L734V|SSFA2_ENST00000428267.2_Missense_Mutation_p.L581V|SSFA2_ENST00000409136.1_Missense_Mutation_p.L243V	p.L734V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		11	2379	+			734					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.2200C>G	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296142	0.60086	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.26067	2.01;1.76;1.98;2.0;1.78	5.75	3.97	0.46021	.	0.146689	0.47093	D	0.000257	T	0.49508	0.1561	M	0.74881	2.28	0.52501	D	0.999958	D;D;D;D;D	0.89917	1.0;0.998;0.998;0.998;0.998	D;D;D;D;D	0.83275	0.996;0.996;0.996;0.996;0.996	T	0.49744	-0.8907	10	0.56958	D	0.05	-8.9759	12.5239	0.56075	0.0:0.8646:0.0:0.1354	.	581;243;734;734;734	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	V	734;734;734;581;243	ENSP00000388731:L734V;ENSP00000314669:L734V;ENSP00000387319:L734V;ENSP00000409867:L581V;ENSP00000386916:L243V	ENSP00000314669:L734V	L	+	1	2	SSFA2	182488812	0.987000	0.35691	0.537000	0.28052	0.953000	0.61014	2.125000	0.42016	0.794000	0.33899	0.585000	0.79938	CTA		0.423	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		27	107	0	0	0	1	0	27	107				
SFPQ	6421	broad.mit.edu	37	1	35653605	35653605	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:35653605T>C	ENST00000357214.5	-	7	1882	c.1784A>G	c.(1783-1785)gAa>gGa	p.E595G		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	595					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GCTGTAACTTTCCTCTCTTTG	0.453			T	TFE3	papillary renal cell																																	ENST00000357214.5				Dom	yes		1	1p34.3	6421	T	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)			E	TFE3		papillary renal cell	SFPQ/TFE3(6)	0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1783-1785)gAa>gGa		splicing factor proline/glutamine-rich							366.0	320.0	336.0					1																	35653605		2203	4300	6503	SO:0001583	missense	6421				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr1:35653605T>C	X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1784A>G	1.37:g.35653605T>C	ENSP00000349748:p.Glu595Gly						p.E595G	NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN			7	1882	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	595					P30808|Q5SZ71	Missense_Mutation	SNP	ENST00000357214.5	37	c.1784A>G	CCDS388.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420167	0.83559	.	.	ENSG00000116560	ENST00000357214	T	0.43688	0.94	5.81	5.81	0.92471	.	0.094739	0.64402	D	0.000001	T	0.57344	0.2047	L	0.53561	1.675	0.80722	D	1	D	0.67145	0.996	P	0.62740	0.906	T	0.53878	-0.8376	10	0.35671	T	0.21	-19.5231	16.1538	0.81644	0.0:0.0:0.0:1.0	.	595	P23246	SFPQ_HUMAN	G	595	ENSP00000349748:E595G	ENSP00000349748:E595G	E	-	2	0	SFPQ	35426192	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.793000	0.85851	2.221000	0.72209	0.454000	0.30748	GAA		0.453	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066		40	155	0	0	0	1	0	40	155				
AP5M1	55745	broad.mit.edu	37	14	57747082	57747082	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:57747082A>G	ENST00000261558.3	+	3	1296	c.890A>G	c.(889-891)tAc>tGc	p.Y297C	AP5M1_ENST00000556723.1_3'UTR|AP5M1_ENST00000431972.2_Missense_Mutation_p.Y311C	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	297	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											AGTGGGCCTTACAAATTTCCA	0.388																																						ENST00000261558.3																			0											c.(889-891)tAc>tGc		adaptor-related protein complex 5, mu 1 subunit							186.0	162.0	170.0					14																	57747082		2203	4300	6503	SO:0001583	missense	55745				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		g.chr14:57747082A>G	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.890A>G	14.37:g.57747082A>G	ENSP00000261558:p.Tyr297Cys					AP5M1_ENST00000556723.1_3'UTR|AP5M1_ENST00000431972.2_Missense_Mutation_p.Y311C	p.Y297C	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN			3	1296	+			297			MHD.		O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	37	c.890A>G	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.662996	0.88251	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.19669	2.13;2.13	5.96	5.96	0.96718	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.42988	0.1227	M	0.72118	2.19	0.80722	D	1	D	0.54601	0.967	P	0.57846	0.828	T	0.34304	-0.9834	10	0.72032	D	0.01	.	16.4356	0.83874	1.0:0.0:0.0:0.0	.	297	Q9H0R1	MUDEN_HUMAN	C	297;311	ENSP00000261558:Y297C;ENSP00000390531:Y311C	ENSP00000261558:Y297C	Y	+	2	0	MUDENG	56816835	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.946000	0.92992	2.280000	0.76307	0.496000	0.49642	TAC		0.388	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		32	101	0	0	0	1	0	32	101				
YAP1	10413	broad.mit.edu	37	11	102094469	102094469	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:102094469T>A	ENST00000282441.5	+	7	1537	c.1149T>A	c.(1147-1149)gaT>gaA	p.D383E	YAP1_ENST00000537274.1_Missense_Mutation_p.D371E|YAP1_ENST00000345877.2_Missense_Mutation_p.D333E|YAP1_ENST00000524575.1_Missense_Mutation_p.D205E|YAP1_ENST00000531439.1_Missense_Mutation_p.D367E|YAP1_ENST00000526343.1_Missense_Mutation_p.D329E	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	383	Transactivation domain.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		ATAGCTCAGATCCTTTCCTTA	0.433																																					Colon(50;247 1103 7861 28956)	ENST00000282441.5																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(1147-1149)gaT>gaA		Yes-associated protein 1							113.0	101.0	105.0					11																	102094469		2203	4299	6502	SO:0001583	missense	10413				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr11:102094469T>A		CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"""Yes-associated protein 1, 65kDa"""			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.1149T>A	11.37:g.102094469T>A	ENSP00000282441:p.Asp383Glu					YAP1_ENST00000531439.1_Missense_Mutation_p.D367E|YAP1_ENST00000537274.1_Missense_Mutation_p.D371E|YAP1_ENST00000524575.1_Missense_Mutation_p.D205E|YAP1_ENST00000345877.2_Missense_Mutation_p.D333E|YAP1_ENST00000526343.1_Missense_Mutation_p.D329E	p.D383E	NM_001130145.2	NP_001123617.1	P46937	YAP1_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)	7	1537	+	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	383			Transactivation domain.		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	ENST00000282441.5	37	c.1149T>A	CCDS44716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.26|16.26	3.073380|3.073380	0.55646|0.55646	.|.	.|.	ENSG00000137693|ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575|ENST00000529029	T;T;T|.	0.62941|.	0.01;-0.01;0.2|.	5.79|5.79	3.28|3.28	0.37604|0.37604	.|.	0.047045|.	0.85682|.	D|.	0.000000|.	T|T	0.58609|0.58609	0.2134|0.2134	L|L	0.56280|0.56280	1.765|1.765	0.50632|0.50632	D|D	0.999889|0.999889	B;D;D;D;P;D|.	0.67145|.	0.01;0.966;0.994;0.987;0.952;0.996|.	B;B;D;P;B;D|.	0.77557|.	0.026;0.442;0.978;0.858;0.138;0.99|.	T|T	0.51702|0.51702	-0.8672|-0.8672	10|5	0.59425|.	D|.	0.04|.	.|.	8.7883|8.7883	0.34835|0.34835	0.0:0.1764:0.0:0.8236|0.0:0.1764:0.0:0.8236	.|.	205;300;329;367;383;333|.	B4DTY1;F5GWC5;E9PRV2;P46937-2;P46937;P46937-3|.	.;.;.;.;YAP1_HUMAN;.|.	E|N	329;383;371;333;300;367;205|137	ENSP00000434134:D329E;ENSP00000331023:D333E;ENSP00000435602:D205E|.	ENSP00000282441:D383E|.	D|I	+|+	3|2	2|0	YAP1|YAP1	101599679|101599679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.792000|0.792000	0.44763|0.44763	1.669000|1.669000	0.37492|0.37492	0.379000|0.379000	0.24794|0.24794	0.454000|0.454000	0.30748|0.30748	GAT|ATC		0.433	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106		26	62	0	0	0	1	0	26	62				
AGPAT6	137964	broad.mit.edu	37	8	41467239	41467239	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:41467239A>G	ENST00000396987.3	+	4	1228	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	101					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			AAGTGGTAGTAGTAAGGCTCT	0.453																																						ENST00000396987.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14						c.(301-303)Agt>Ggt		1-acylglycerol-3-phosphate O-acyltransferase 6							106.0	101.0	103.0					8																	41467239		2203	4300	6503	SO:0001583	missense	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41467239A>G	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20880	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, zeta"""	608143	"""1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"""			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.301A>G	8.37:g.41467239A>G	ENSP00000380184:p.Ser101Gly					RP11-360L9.8_ENST00000581909.1_RNA	p.S101G	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		4	1228	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	101					Q86V89	Missense_Mutation	SNP	ENST00000396987.3	37	c.301A>G	CCDS6117.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.758851	0.49468	.	.	ENSG00000158669	ENST00000396987;ENST00000519853	T	0.46063	0.88	4.82	4.82	0.62117	.	0.267202	0.49305	D	0.000151	T	0.25195	0.0612	L	0.27053	0.805	0.30833	N	0.736461	B	0.02656	0.0	B	0.01281	0.0	T	0.15407	-1.0438	10	0.16420	T	0.52	.	6.7454	0.23458	0.8925:0.0:0.1075:0.0	.	101	Q86UL3	GPAT4_HUMAN	G	101;55	ENSP00000380184:S101G	ENSP00000380184:S101G	S	+	1	0	AGPAT6	41586396	0.454000	0.25728	0.997000	0.53966	0.996000	0.88848	2.937000	0.48979	2.135000	0.66039	0.460000	0.39030	AGT		0.453	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		35	152	0	0	0	1	0	35	152				
IGHV3-38	28429	broad.mit.edu	37	14	106866531	106866531	+	RNA	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:106866531T>C	ENST00000390618.2	-	0	300									immunoglobulin heavy variable 3-38 (non-functional)																		GCGTAGTATGTGCTACCACCA	0.532																																						ENST00000390618.2																			0																				218.0	165.0	183.0					14																	106866531		2202	4297	6499			28429							g.chr14:106866531T>C	M99669		14q32.33	2012-02-08	2008-08-22		ENSG00000211958	ENSG00000211958		"""Immunoglobulins / IGH locus"""	5601	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-38"""				Standard	NG_001019		Approved				OTTHUMG00000152093		14.37:g.106866531T>C														0	300	-									RNA	SNP	ENST00000390618.2	37																																																																																						0.532	IGHV3-38-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325190.1	NG_001019		7	312	0	0	0	1	0	7	312				
ALDOC	230	broad.mit.edu	37	17	26900911	26900911	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:26900911A>G	ENST00000226253.4	-	8	1316	c.841T>C	c.(841-843)Tca>Cca	p.S281P	PIGS_ENST00000543734.1_5'Flank|PIGS_ENST00000308360.7_5'Flank|PIGS_ENST00000395346.2_5'Flank|ALDOC_ENST00000395321.2_Missense_Mutation_p.S281P|RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395319.3_Missense_Mutation_p.S253P	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	281					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					AGGTTGAATGATGCCTCTTCT	0.562																																						ENST00000226253.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(841-843)Tca>Cca		aldolase C, fructose-bisphosphate							122.0	120.0	121.0					17																	26900911		2203	4300	6503	SO:0001583	missense	230				fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	g.chr17:26900911A>G	AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.841T>C	17.37:g.26900911A>G	ENSP00000226253:p.Ser281Pro					RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395319.3_Missense_Mutation_p.S253P|ALDOC_ENST00000395321.2_Missense_Mutation_p.S281P	p.S281P	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN			8	1316	-	Lung NSC(42;0.00431)		281					B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	ENST00000226253.4	37	c.841T>C	CCDS11236.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.265528	0.59431	.	.	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321	D;D;D	0.86769	-2.17;-2.17;-2.17	5.46	5.46	0.80206	Aldolase-type TIM barrel (1);	0.176331	0.49305	D	0.000153	D	0.93579	0.7950	M	0.90542	3.125	0.58432	D	0.999995	D;D	0.63880	0.993;0.964	D;P	0.69142	0.962;0.898	D	0.94235	0.7480	10	0.87932	D	0	-4.054	9.865	0.41138	0.8472:0.0:0.0:0.1528	.	253;281	A8MVZ9;P09972	.;ALDOC_HUMAN	P	253;281;281	ENSP00000378729:S253P;ENSP00000226253:S281P;ENSP00000378731:S281P	ENSP00000226253:S281P	S	-	1	0	ALDOC	23925038	1.000000	0.71417	0.990000	0.47175	0.949000	0.60115	4.897000	0.63231	2.080000	0.62538	0.379000	0.24179	TCA		0.562	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255839.4			4	134	0	0	0	1	0	4	134				
NOLC1	9221	broad.mit.edu	37	10	103919045	103919045	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:103919045G>A	ENST00000605788.1	+	6	938	c.703G>A	c.(703-705)Gca>Aca	p.A235T	NOLC1_ENST00000405356.1_Missense_Mutation_p.A235T|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.A236T	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	235	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GGAGGAGAAGGCAGCAGCCAC	0.547																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(703-705)Gca>Aca		nucleolar and coiled-body phosphoprotein 1							124.0	124.0	124.0					10																	103919045		2203	4300	6503	SO:0001583	missense	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103919045G>A	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.703G>A	10.37:g.103919045G>A	ENSP00000474710:p.Ala235Thr					NOLC1_ENST00000488254.2_Missense_Mutation_p.A236T|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000605788.1_Missense_Mutation_p.A235T	p.A235T			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	6	938	+		Colorectal(252;0.122)	235			11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.		Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	ENST00000605788.1	37	c.703G>A	CCDS7530.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111531	0.37242	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.36520	1.25	6.17	4.28	0.50868	.	0.353676	0.27558	N	0.018831	T	0.34337	0.0894	L	0.56396	1.775	0.32251	N	0.571446	B;B;B	0.12013	0.005;0.005;0.003	B;B;B	0.17433	0.018;0.018;0.008	T	0.42378	-0.9455	10	0.72032	D	0.01	-0.0017	9.0996	0.36660	0.0743:0.0:0.77:0.1557	.	236;235;235	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	T	235	ENSP00000385410:A235T	ENSP00000359024:A235T	A	+	1	0	NOLC1	103909035	0.975000	0.34042	0.587000	0.28692	0.051000	0.14879	1.594000	0.36697	0.877000	0.35895	-0.140000	0.14226	GCA		0.547	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		32	157	0	0	0	1	0	32	157				
CABIN1	23523	broad.mit.edu	37	22	24479268	24479268	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:24479268T>C	ENST00000398319.2	+	20	3221	c.2836T>C	c.(2836-2838)Tgc>Cgc	p.C946R	CABIN1_ENST00000405822.2_Missense_Mutation_p.C896R|CABIN1_ENST00000263119.5_Missense_Mutation_p.C946R	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	946					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTTGGAGCAGTGCTTCTACTG	0.582																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2836-2838)Tgc>Cgc		calcineurin binding protein 1							92.0	76.0	82.0					22																	24479268		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24479268T>C	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2836T>C	22.37:g.24479268T>C	ENSP00000381364:p.Cys946Arg					CABIN1_ENST00000263119.5_Missense_Mutation_p.C946R|CABIN1_ENST00000405822.2_Missense_Mutation_p.C896R	p.C946R	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			20	3221	+			946					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.2836T>C	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274062	0.80580	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.68765	-0.2;-0.35;-0.2	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.79323	0.4426	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.81716	-0.0806	10	0.87932	D	0	.	14.3971	0.67018	0.0:0.0:0.0:1.0	.	896;946	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	R	946;896;946	ENSP00000263119:C946R;ENSP00000384694:C896R;ENSP00000381364:C946R	ENSP00000263119:C946R	C	+	1	0	CABIN1	22809268	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.625000	0.83145	2.073000	0.62155	0.477000	0.44152	TGC		0.582	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		18	29	0	0	0	1	0	18	29				
DTX4	23220	broad.mit.edu	37	11	58949498	58949498	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:58949498G>A	ENST00000227451.3	+	2	602	c.498G>A	c.(496-498)ggG>ggA	p.G166G	DTX4_ENST00000532982.1_Silent_p.G60G	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	166					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G60G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				TGGTCACAGGGACCTTGCCTA	0.637																																						ENST00000227451.3																			1	Substitution - coding silent(1)	p.G60G(1)	lung(1)	central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(496-498)ggG>ggA		deltex homolog 4 (Drosophila)							49.0	56.0	54.0					11																	58949498		2114	4234	6348	SO:0001819	synonymous_variant	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58949498G>A	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.498G>A	11.37:g.58949498G>A						DTX4_ENST00000532982.1_Silent_p.G60G	p.G166G	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN			2	602	+		all_epithelial(135;0.125)	166					Q0VF38	Silent	SNP	ENST00000227451.3	37	c.498G>A	CCDS44612.1																																																																																				0.637	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		23	79	0	0	0	1	0	23	79				
PLEKHM3	389072	broad.mit.edu	37	2	208795811	208795811	+	Silent	SNP	G	G	A	rs368891102		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:208795811G>A	ENST00000427836.2	-	5	2214	c.1725C>T	c.(1723-1725)taC>taT	p.Y575Y	PLEKHM3_ENST00000457206.1_Silent_p.Y575Y|PLEKHM3_ENST00000389247.4_Silent_p.Y575Y	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	575					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTCGTACACGTACTCCAGAA	0.602																																						ENST00000457206.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1723-1725)taC>taT		pleckstrin homology domain containing, family M, member 3		G		0,4094		0,0,2047	70.0	75.0	73.0		1725	-2.8	1.0	2		73	1,8407		0,1,4203	no	coding-synonymous	PLEKHM3	NM_001080475.2		0,1,6250	AA,AG,GG		0.0119,0.0,0.0080		575/762	208795811	1,12501	2047	4204	6251	SO:0001819	synonymous_variant	389072				intracellular signal transduction		metal ion binding	g.chr2:208795811G>A	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1725C>T	2.37:g.208795811G>A						PLEKHM3_ENST00000427836.2_Silent_p.Y575Y|PLEKHM3_ENST00000389247.4_Silent_p.Y575Y	p.Y575Y			Q6ZWE6	PKHM3_HUMAN			5	2152	-			575					B9EKV2|Q8WW68	Silent	SNP	ENST00000427836.2	37	c.1725C>T	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	G	9.645	1.139947	0.21205	0.0	1.19E-4	ENSG00000178385	ENST00000447645	.	.	.	5.79	-2.82	0.05787	.	.	.	.	.	T	0.62563	0.2438	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61083	-0.7134	4	.	.	.	.	12.8048	0.57607	0.6783:0.0:0.3217:0.0	.	.	.	.	C	327	.	.	R	-	1	0	PLEKHM3	208504056	0.975000	0.34042	0.984000	0.44739	0.894000	0.52154	0.349000	0.20055	-0.391000	0.07763	0.460000	0.39030	CGT		0.602	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		32	88	0	0	0	1	0	32	88				
OXCT2	64064	broad.mit.edu	37	1	40235542	40235542	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:40235542G>A	ENST00000327582.5	-	1	1478	c.1386C>T	c.(1384-1386)tgC>tgT	p.C462C	BMP8B_ENST00000372827.3_Intron|BMP8B_ENST00000397360.2_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	462					ketone body catabolic process (GO:0046952)	mitochondrion (GO:0005739)|motile cilium (GO:0031514)	3-oxoacid CoA-transferase activity (GO:0008260)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	TGCGGTCCACGCACCGCTTCC	0.587																																						ENST00000327582.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6						c.(1384-1386)tgC>tgT		3-oxoacid CoA transferase 2	Succinic acid(DB00139)						43.0	43.0	43.0					1																	40235542		2203	4297	6500	SO:0001819	synonymous_variant	64064				ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity	g.chr1:40235542G>A	AB050193	CCDS445.1	1p34	2008-02-05			ENSG00000198754	ENSG00000198754			18606	protein-coding gene	gene with protein product		610289				11214971, 11756565	Standard	NM_022120		Approved	FKSG25, FLJ00030, SCOT-T	uc001ceb.1	Q9BYC2	OTTHUMG00000009249	ENST00000327582.5:c.1386C>T	1.37:g.40235542G>A						BMP8B_ENST00000372827.3_Intron|BMP8B_ENST00000397360.2_Intron	p.C462C	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		1	1478	-	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	462					B2RBB4|Q5QPK4|Q8NHR1|Q9H1I4	Silent	SNP	ENST00000327582.5	37	c.1386C>T	CCDS445.1																																																																																				0.587	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025656.1	NM_022120		12	67	0	0	0	1	0	12	67				
CTC1	80169	broad.mit.edu	37	17	8138525	8138525	+	Missense_Mutation	SNP	C	C	T	rs191350236		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:8138525C>T	ENST00000315684.8	-	8	1292	c.1285G>A	c.(1285-1287)Gtt>Att	p.V429I	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	429					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TGAAGCAGAACGGCGCCACGG	0.612													c|||	1	0.000199681	0.0	0.0	5008	,	,		18609	0.0		0.001	False		,,,				2504	0.0					ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1285-1287)Gtt>Att		CTS telomere maintenance complex component 1							66.0	75.0	72.0					17																	8138525		2066	4193	6259	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138525C>T	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1285G>A	17.37:g.8138525C>T	ENSP00000313759:p.Val429Ile						p.V429I	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			8	1292	-			429					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.1285G>A	CCDS42259.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	8.230	0.804499	0.16467	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.85702	-2.02;-2.02	5.04	2.99	0.34606	.	0.247806	0.33534	N	0.004816	T	0.75781	0.3896	L	0.40543	1.245	0.09310	N	1	B	0.24768	0.111	B	0.17722	0.019	T	0.63998	-0.6510	10	0.41790	T	0.15	-7.1333	7.2836	0.26324	0.0:0.7979:0.0:0.2021	.	429	Q2NKJ3	CTC1_HUMAN	I	429;394	ENSP00000313759:V429I;ENSP00000396018:V394I	ENSP00000313759:V429I	V	-	1	0	CTC1	8079250	0.031000	0.19500	0.010000	0.14722	0.310000	0.27922	0.443000	0.21644	0.667000	0.31107	0.598000	0.82781	GTT		0.612	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		31	89	0	0	0	1	0	31	89				
ZNF624	57547	broad.mit.edu	37	17	16526165	16526165	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:16526165T>C	ENST00000311331.7	-	6	2126	c.2035A>G	c.(2035-2037)Aat>Gat	p.N679D		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	679					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGTGATGTATTAGTGAAGGCT	0.388																																					NSCLC(186;1023 2134 13330 38202 39800)	ENST00000311331.7																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26						c.(2035-2037)Aat>Gat		zinc finger protein 624							149.0	143.0	145.0					17																	16526165		2203	4299	6502	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16526165T>C	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.2035A>G	17.37:g.16526165T>C	ENSP00000310472:p.Asn679Asp						p.N679D	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	2126	-			679					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.2035A>G	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.856988	0.32791	.	.	ENSG00000197566	ENST00000311331	T	0.20738	2.05	3.16	2.03	0.26663	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08088	0.0202	N	0.03177	-0.4	0.22185	N	0.999302	B	0.17465	0.022	B	0.19666	0.026	T	0.33675	-0.9859	9	0.30854	T	0.27	.	3.2881	0.06939	0.0:0.1283:0.2466:0.6251	.	679	Q9P2J8	ZN624_HUMAN	D	679	ENSP00000310472:N679D	ENSP00000310472:N679D	N	-	1	0	ZNF624	16466890	0.000000	0.05858	0.997000	0.53966	0.996000	0.88848	-1.896000	0.01605	0.567000	0.29293	0.533000	0.62120	AAT		0.388	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		35	94	0	0	0	1	0	35	94				
ABCC9	10060	broad.mit.edu	37	12	22068689	22068689	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:22068689A>G	ENST00000261201.4	-	5	728	c.729T>C	c.(727-729)atT>atC	p.I243I	ABCC9_ENST00000345162.2_Silent_p.I243I|ABCC9_ENST00000261200.4_Silent_p.I243I	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	243					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CCTTCAGATCAATAGGCTTTT	0.368																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(727-729)atT>atC		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						146.0	133.0	137.0					12																	22068689		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22068689A>G	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.729T>C	12.37:g.22068689A>G						ABCC9_ENST00000345162.2_Silent_p.I243I|ABCC9_ENST00000261201.4_Silent_p.I243I	p.I243I	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			5	728	-			243					O60707	Silent	SNP	ENST00000261201.4	37	c.729T>C	CCDS8694.1																																																																																				0.368	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		26	113	0	0	0	1	0	26	113				
DHX30	22907	broad.mit.edu	37	3	47859533	47859533	+	Missense_Mutation	SNP	G	G	A	rs138729543		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:47859533G>A	ENST00000445061.1	+	4	457	c.50G>A	c.(49-51)cGt>cAt	p.R17H	DHX30_ENST00000348968.4_5'UTR|DHX30_ENST00000446256.2_5'UTR|DHX30_ENST00000476446.1_3'UTR	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	17						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.R17H(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		cacaggcagcgtcagtgcaaa	0.607																																						ENST00000445061.1																			1	Substitution - Missense(1)	p.R17H(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(49-51)cGt>cAt		DEAH (Asp-Glu-Ala-His) box helicase 30		G	,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	166.0	149.0	155.0		,50	4.8	1.0	3	dbSNP_134	155	0,8600		0,0,4300	no	utr-5,missense	DHX30	NM_014966.3,NM_138615.2	,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,probably-damaging	,17/1195	47859533	1,13005	2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47859533G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.50G>A	3.37:g.47859533G>A	ENSP00000405620:p.Arg17His					DHX30_ENST00000476446.1_3'UTR|DHX30_ENST00000348968.4_5'UTR|DHX30_ENST00000446256.2_5'UTR	p.R17H	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	4	457	+			17					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.50G>A	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444257	0.63067	2.27E-4	0.0	ENSG00000132153	ENST00000445061	T	0.03553	3.89	5.73	4.85	0.62838	.	1.026420	0.07775	N	0.952467	T	0.04048	0.0113	N	0.22421	0.69	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.43065	-0.9414	10	0.87932	D	0	.	9.6697	0.40004	0.092:0.0:0.908:0.0	.	17	Q7L2E3	DHX30_HUMAN	H	17	ENSP00000405620:R17H	ENSP00000379094:R17H	R	+	2	0	DHX30	47834537	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.987000	0.49378	2.706000	0.92434	0.563000	0.77884	CGT		0.607	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		78	204	0	0	0	1	0	78	204				
SERPINB8	5271	broad.mit.edu	37	18	61654228	61654228	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:61654228C>T	ENST00000397985.2	+	7	1097	c.841C>T	c.(841-843)Cct>Tct	p.P281S	SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.P99S|SERPINB8_ENST00000353706.2_Missense_Mutation_p.P281S	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	281					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TGACTTGGAGCCTTTCCTTCG	0.418																																						ENST00000397985.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17						c.(841-843)Cct>Tct		serpin peptidase inhibitor, clade B (ovalbumin), member 8							110.0	105.0	107.0					18																	61654228		2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61654228C>T	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.841C>T	18.37:g.61654228C>T	ENSP00000381072:p.Pro281Ser					SERPINB8_ENST00000353706.2_Missense_Mutation_p.P281S|SERPINB8_ENST00000542677.1_Missense_Mutation_p.P99S|SERPINB8_ENST00000493661.1_Intron	p.P281S	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN			7	1097	+		Esophageal squamous(42;0.129)	281					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.841C>T	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	C	0.882	-0.728271	0.03135	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677	T;T;T	0.81330	-1.48;-1.48;2.93	5.65	-2.58	0.06228	Serpin domain (3);	0.527823	0.24050	N	0.042003	T	0.40222	0.1108	N	0.01277	-0.915	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.49153	-0.8969	10	0.02654	T	1	.	2.9432	0.05837	0.1157:0.3748:0.1222:0.3873	.	281	P50452	SPB8_HUMAN	S	281;281;99	ENSP00000381072:P281S;ENSP00000331368:P281S;ENSP00000438328:P99S	ENSP00000331368:P281S	P	+	1	0	SERPINB8	59805208	0.000000	0.05858	0.107000	0.21349	0.939000	0.58152	-1.404000	0.02494	-0.607000	0.05738	-0.150000	0.13652	CCT		0.418	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		29	89	0	0	0	1	0	29	89				
FTO	79068	broad.mit.edu	37	16	53859936	53859936	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:53859936C>T	ENST00000471389.1	+	3	506	c.284C>T	c.(283-285)tCt>tTt	p.S95F	FTO_ENST00000394647.3_Intron	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	95	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACTCCGGTATCTCGCATCCTC	0.493																																						ENST00000471389.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(283-285)tCt>tTt		fat mass and obesity associated							97.0	87.0	91.0					16																	53859936		2198	4300	6498	SO:0001583	missense	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53859936C>T	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.284C>T	16.37:g.53859936C>T	ENSP00000418823:p.Ser95Phe					FTO_ENST00000394647.3_Intron	p.S95F	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN			3	506	+			95			Fe2OG dioxygenase domain.		A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	c.284C>T	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898824	0.91962	.	.	ENSG00000140718	ENST00000471389	T	0.79940	-1.32	5.46	5.46	0.80206	Alpha-ketoglutarate-dependent dioxygenase FTO, catalytic domain (1);	0.050394	0.85682	D	0.000000	D	0.89750	0.6805	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.90565	0.4518	10	0.87932	D	0	-14.3866	19.3039	0.94153	0.0:1.0:0.0:0.0	.	95	Q9C0B1	FTO_HUMAN	F	95	ENSP00000418823:S95F	ENSP00000418823:S95F	S	+	2	0	FTO	52417437	1.000000	0.71417	0.877000	0.34402	0.996000	0.88848	6.949000	0.75971	2.562000	0.86427	0.650000	0.86243	TCT		0.493	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		23	76	0	0	0	1	0	23	76				
ZNF718	255403	broad.mit.edu	37	4	155055	155055	+	lincRNA	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:155055A>G	ENST00000510175.1	+	0	490							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AAGAATTCATACTGGAGAGAA	0.358																																						ENST00000510175.1																			0													zinc finger protein 718							29.0	32.0	31.0					4																	155055		2112	4243	6355			255403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:155055A>G	AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155055A>G										Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	0	490	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)						Q3SXZ4|Q3SXZ5	RNA	SNP	ENST00000510175.1	37																																																																																						0.358	ZNF718-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000357865.3	NM_001039127		13	41	0	0	0	1	0	13	41				
LAMA5	3911	broad.mit.edu	37	20	60885589	60885589	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:60885589G>A	ENST00000252999.3	-	76	10552	c.10486C>T	c.(10486-10488)Ctg>Ttg	p.L3496L	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3496	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTCCCGTGCAGCCTCAGTCTC	0.687																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(10486-10488)Ctg>Ttg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						25.0	34.0	31.0					20																	60885589		2127	4206	6333	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60885589G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10486C>T	20.37:g.60885589G>A							p.L3496L	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		76	10552	-	Breast(26;1.57e-08)		3496			Laminin G-like 4.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.10486C>T	CCDS33502.1																																																																																				0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		41	107	0	0	0	1	0	41	107				
SLC8A1	6546	broad.mit.edu	37	2	40397459	40397459	+	Missense_Mutation	SNP	C	C	G	rs148383040	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:40397459C>G	ENST00000403092.1	-	7	2033	c.2000G>C	c.(1999-2001)aGa>aCa	p.R667T	SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R667T|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R662T|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R662T|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000406785.2_Intron|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R659T|SLC8A1-AS1_ENST00000593848.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	667					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CGGATGTTCTCTAGCATGAAC	0.423													C|||	2	0.000399361	0.0015	0.0	5008	,	,		22282	0.0		0.0	False		,,,				2504	0.0					ENST00000542756.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(1984-1986)aGa>aCa		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	C	THR/ARG,THR/ARG,,THR/ARG	1,4405	2.1+/-5.4	0,1,2202	143.0	126.0	132.0		1985,1961,,2000	5.1	1.0	2	dbSNP_134	132	0,8600		0,0,4300	no	missense,missense,intron,missense	SLC8A1	NM_001112800.1,NM_001112801.1,NM_001112802.1,NM_021097.2	71,71,,71	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign,benign,,benign	662/969,654/961,,667/974	40397459	1,13005	2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40397459C>G		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2000G>C	2.37:g.40397459C>G	ENSP00000384763:p.Arg667Thr					SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R659T|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R667T|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R667T|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R662T|SLC8A1_ENST00000406785.1_Intron	p.R662T			P32418	NAC1_HUMAN			6	2008	-			667					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1985G>C	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935017	0.52866	2.27E-4	0.0	ENSG00000183023	ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000332839;ENST00000408028;ENST00000535962	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	5.07	5.07	0.68467	.	0.130693	0.49305	D	0.000157	T	0.25938	0.0632	L	0.48642	1.525	0.80722	D	1	B;B;B;B	0.27068	0.119;0.056;0.008;0.167	B;B;B;B	0.26416	0.069;0.023;0.014;0.024	T	0.02837	-1.1104	10	0.41790	T	0.15	.	15.9876	0.80174	0.0:1.0:0.0:0.0	.	659;654;662;667	P32418-4;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	T	667;662;667;662;667;659;654	ENSP00000440727:R662T;ENSP00000384763:R667T;ENSP00000385678:R662T;ENSP00000332931:R667T;ENSP00000384908:R659T	ENSP00000332931:R667T	R	-	2	0	SLC8A1	40250963	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.478000	0.73596	2.627000	0.88993	0.591000	0.81541	AGA		0.423	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		7	62	0	0	0	1	0	7	62				
COL14A1	7373	broad.mit.edu	37	8	121293249	121293249	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:121293249T>C	ENST00000297848.3	+	31	4045	c.3775T>C	c.(3775-3777)Ttt>Ctt	p.F1259L	COL14A1_ENST00000309791.4_Missense_Mutation_p.F1259L|COL14A1_ENST00000247781.3_Missense_Mutation_p.F1164L	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTTCAATGTGTTTCCATGTTA	0.358																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(3775-3777)Ttt>Ctt		collagen, type XIV, alpha 1							97.0	101.0	99.0					8																	121293249		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121293249T>C		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3775T>C	8.37:g.121293249T>C	ENSP00000297848:p.Phe1259Leu					COL14A1_ENST00000247781.3_Missense_Mutation_p.F1164L|COL14A1_ENST00000309791.4_Missense_Mutation_p.F1259L	p.F1259L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		31	4045	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1259			Nonhelical region (NC4).|TSP N-terminal.			Missense_Mutation	SNP	ENST00000297848.3	37	c.3775T>C	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.883684	0.51908	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.02032	4.49;4.49;4.49	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.219310	0.47852	D	0.000202	T	0.03827	0.0108	L	0.50333	1.59	0.80722	D	1	B	0.18166	0.026	B	0.16722	0.016	T	0.49380	-0.8946	10	0.32370	T	0.25	.	16.3156	0.82923	0.0:0.0:0.0:1.0	.	1259	Q05707	COEA1_HUMAN	L	1259;1259;1164	ENSP00000311809:F1259L;ENSP00000297848:F1259L;ENSP00000247781:F1164L	ENSP00000247781:F1164L	F	+	1	0	COL14A1	121362430	1.000000	0.71417	0.904000	0.35570	0.133000	0.20885	8.015000	0.88690	2.260000	0.74910	0.528000	0.53228	TTT		0.358	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		7	98	0	0	0	1	0	7	98				
GRIA1	2890	broad.mit.edu	37	5	153078486	153078486	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:153078486C>T	ENST00000285900.5	+	10	1648	c.1305C>T	c.(1303-1305)taC>taT	p.Y435Y	GRIA1_ENST00000518142.1_Silent_p.Y355Y|GRIA1_ENST00000340592.5_Silent_p.Y435Y|GRIA1_ENST00000518783.1_Silent_p.Y445Y|GRIA1_ENST00000521843.2_Silent_p.Y366Y|GRIA1_ENST00000448073.4_Silent_p.Y445Y	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	435					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	ATGACCGTTACGAGGGCTACT	0.517																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1303-1305)taC>taT		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						132.0	115.0	121.0					5																	153078486		2203	4300	6503	SO:0001819	synonymous_variant	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153078486C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1305C>T	5.37:g.153078486C>T						GRIA1_ENST00000521843.2_Silent_p.Y366Y|GRIA1_ENST00000518783.1_Silent_p.Y445Y|GRIA1_ENST00000448073.4_Silent_p.Y445Y|GRIA1_ENST00000340592.5_Silent_p.Y435Y|GRIA1_ENST00000518142.1_Silent_p.Y355Y	p.Y435Y	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		10	1648	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	435					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.1305C>T	CCDS4322.1																																																																																				0.517	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			18	78	0	0	0	1	0	18	78				
DSC3	1825	broad.mit.edu	37	18	28586928	28586928	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:28586928A>G	ENST00000360428.4	-	12	1913	c.1833T>C	c.(1831-1833)agT>agC	p.S611S	DSC3_ENST00000434452.1_Silent_p.S611S	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	611	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TATTGGGCAAACTGAAATAAA	0.343																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1831-1833)agT>agC		desmocollin 3							86.0	87.0	87.0					18																	28586928		2203	4300	6503	SO:0001819	synonymous_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28586928A>G	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1833T>C	18.37:g.28586928A>G						DSC3_ENST00000360428.4_Silent_p.S611S	p.S611S	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		12	1987	-			611			Cadherin 5.		A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	c.1833T>C	CCDS32810.1																																																																																				0.343	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		11	50	0	0	0	1	0	11	50				
APC	324	broad.mit.edu	37	5	112103073	112103073	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:112103073A>G	ENST00000457016.1	+	4	788	c.408A>G	c.(406-408)gaA>gaG	p.E136E	APC_ENST00000508376.2_Silent_p.E136E|APC_ENST00000257430.4_Silent_p.E136E			P25054	APC_HUMAN	adenomatous polyposis coli	136	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATTTAGAAGAACTTGAGAAAG	0.333		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		0				NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(406-408)gaA>gaG		adenomatous polyposis coli							77.0	77.0	77.0					5																	112103073		2202	4300	6502	SO:0001819	synonymous_variant	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112103073A>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.408A>G	5.37:g.112103073A>G		TSP Lung(16;0.13)				APC_ENST00000508376.2_Silent_p.E136E|APC_ENST00000257430.4_Silent_p.E136E	p.E136E			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	4	788	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	136			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	c.408A>G	CCDS4107.1																																																																																				0.333	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		10	79	0	0	0	1	0	10	79				
LIMK2	3985	broad.mit.edu	37	22	31673101	31673101	+	Intron	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:31673101A>G	ENST00000331728.4	+	16	1886				LIMK2_ENST00000333611.4_Intron|LIMK2_ENST00000406516.1_Missense_Mutation_p.K622R|LIMK2_ENST00000467301.1_Intron|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000340552.4_Missense_Mutation_p.K679R	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2						phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GCCATGCAGAAGCTGAGCACA	0.597																																						ENST00000340552.4																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(2035-2037)aAg>aGg		LIM domain kinase 2							64.0	60.0	61.0					22																	31673101		2203	4300	6503	SO:0001627	intron_variant	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31673101A>G	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1773-1182A>G	22.37:g.31673101A>G						LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Intron|LIMK2_ENST00000406516.1_Missense_Mutation_p.K622R|LIMK2_ENST00000331728.4_Intron|LIMK2_ENST00000467301.1_Intron	p.K679R	NM_001031801.1	NP_001026971.1	P53671	LIMK2_HUMAN			15	2266	+			0					A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.2036A>G	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	.	15.49	2.848732	0.51164	.	.	ENSG00000182541	ENST00000406516;ENST00000340552	T;T	0.77620	-1.11;-1.09	0.0465	0.0465	0.14256	.	0.490245	0.19967	U	0.102078	T	0.80869	0.4706	L	0.58810	1.83	0.80722	D	1	P;P	0.51057	0.941;0.932	P;D	0.67103	0.874;0.949	T	0.77046	-0.2733	10	0.87932	D	0	-6.6233	4.565	0.12180	0.9994:0.0:6.0E-4:0.0	.	679;622	Q7L3H5;B5MC51	.;.	R	622;679	ENSP00000384602:K622R;ENSP00000339916:K679R	ENSP00000339916:K679R	K	+	2	0	LIMK2	30003101	1.000000	0.71417	0.304000	0.25085	0.307000	0.27823	3.120000	0.50430	0.115000	0.18071	0.113000	0.15668	AAG		0.597	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		17	79	0	0	0	1	0	17	79				
FOXJ2	55810	broad.mit.edu	37	12	8192624	8192624	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:8192624A>G	ENST00000162391.3	+	2	1341	c.196A>G	c.(196-198)Aag>Gag	p.K66E	FOXJ2_ENST00000428177.2_Missense_Mutation_p.K66E	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	66					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CCAGGACGGCAAGCCACGATA	0.572																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(196-198)Aag>Gag		forkhead box J2							220.0	148.0	173.0					12																	8192624		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 factor binding	g.chr12:8192624A>G	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.196A>G	12.37:g.8192624A>G	ENSP00000162391:p.Lys66Glu					FOXJ2_ENST00000428177.2_Missense_Mutation_p.K66E	p.K66E	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	2	1341	+			66					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.196A>G	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	a	27.0	4.786764	0.90367	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.97430	-4.38;-4.38	5.14	5.14	0.70334	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.64402	D	0.000003	D	0.98764	0.9584	H	0.94964	3.605	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.80764	0.992;0.994	D	0.99632	1.0986	10	0.87932	D	0	.	12.9926	0.58627	1.0:0.0:0.0:0.0	.	66;66	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	E	66	ENSP00000162391:K66E;ENSP00000403411:K66E	ENSP00000162391:K66E	K	+	1	0	FOXJ2	8083891	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.175000	0.94831	1.954000	0.56735	0.454000	0.30748	AAG		0.572	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		7	141	0	0	0	1	0	7	141				
TIAM2	26230	broad.mit.edu	37	6	155569238	155569238	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:155569238C>T	ENST00000461783.3	+	22	5030	c.3757C>T	c.(3757-3759)Ctc>Ttc	p.L1253F	TIAM2_ENST00000275246.7_Missense_Mutation_p.L178F|TIAM2_ENST00000367174.2_Missense_Mutation_p.L629F|TIAM2_ENST00000528391.2_Missense_Mutation_p.L589F|TIAM2_ENST00000360366.4_Missense_Mutation_p.L1277F|TIAM2_ENST00000456144.1_Missense_Mutation_p.L1253F|TIAM2_ENST00000318981.5_Missense_Mutation_p.L1253F|TIAM2_ENST00000456877.2_Missense_Mutation_p.L565F|TIAM2_ENST00000529824.2_Missense_Mutation_p.L1253F			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1253	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCAGAGAGTGCTCAAGTACCC	0.622											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3757-3759)Ctc>Ttc		T-cell lymphoma invasion and metastasis 2							53.0	48.0	50.0					6																	155569238		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155569238C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3757C>T	6.37:g.155569238C>T	ENSP00000437188:p.Leu1253Phe		OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1771	TIAM2_ENST00000456877.2_Missense_Mutation_p.L565F|TIAM2_ENST00000528391.2_Missense_Mutation_p.L589F|TIAM2_ENST00000318981.5_Missense_Mutation_p.L1253F|TIAM2_ENST00000275246.7_Missense_Mutation_p.L178F|TIAM2_ENST00000529824.2_Missense_Mutation_p.L1253F|TIAM2_ENST00000367174.2_Missense_Mutation_p.L629F|TIAM2_ENST00000360366.4_Missense_Mutation_p.L1277F|TIAM2_ENST00000456144.1_Missense_Mutation_p.L1253F	p.L1253F			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	22	5030	+		Ovarian(120;0.196)	1253			DH.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3757C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667860	0.96745	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.64	5.64	0.86602	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.81322	0.4798	M	0.89214	3.015	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;0.999;1.0;0.999	D	0.83768	0.0218	10	0.66056	D	0.02	.	19.7013	0.96054	0.0:1.0:0.0:0.0	.	589;1253;1277;1253	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	F	1253;1499;1253;1253;1253;629;1277;1253;565;589;178	ENSP00000437188:L1253F;ENSP00000434901:L1253F;ENSP00000407746:L1253F;ENSP00000327315:L1253F;ENSP00000356142:L629F;ENSP00000353528:L1277F;ENSP00000433348:L1253F;ENSP00000407183:L565F;ENSP00000435335:L589F;ENSP00000275246:L178F	ENSP00000275246:L178F	L	+	1	0	TIAM2	155610930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.070000	0.71220	2.657000	0.90304	0.655000	0.94253	CTC		0.622	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		25	74	0	0	0	1	0	25	74				
SNX2	6643	broad.mit.edu	37	5	122131076	122131076	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:122131076C>T	ENST00000379516.2	+	2	332	c.224C>T	c.(223-225)gCa>gTa	p.A75V	SNX2_ENST00000514949.1_5'UTR|snoU13_ENST00000516486.1_RNA	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	75					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		GATCTTTTTGCAGGTAATTGT	0.323																																						ENST00000379516.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19						c.(223-225)gCa>gTa		sorting nexin 2							133.0	134.0	133.0					5																	122131076		2203	4300	6503	SO:0001583	missense	6643				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr5:122131076C>T	AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"""Sorting nexins"""	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.224C>T	5.37:g.122131076C>T	ENSP00000368831:p.Ala75Val					SNX2_ENST00000514949.1_5'UTR	p.A75V	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)	2	332	+		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	75					B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Missense_Mutation	SNP	ENST00000379516.2	37	c.224C>T	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	C	34	5.296077	0.95574	.	.	ENSG00000205302	ENST00000379516;ENST00000505934	T;T	0.56941	0.43;0.43	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.67988	0.2952	M	0.68952	2.095	0.80722	D	1	P	0.46142	0.873	P	0.53649	0.731	T	0.67130	-0.5748	10	0.59425	D	0.04	-26.1141	20.4388	0.99107	0.0:1.0:0.0:0.0	.	75	O60749	SNX2_HUMAN	V	75	ENSP00000368831:A75V;ENSP00000422413:A75V	ENSP00000368831:A75V	A	+	2	0	SNX2	122158975	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.517000	0.81783	2.836000	0.97738	0.655000	0.94253	GCA		0.323	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100		17	55	0	0	0	1	0	17	55				
PDE2A	5138	broad.mit.edu	37	11	72307674	72307674	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:72307674G>A	ENST00000334456.5	-	6	697	c.452C>T	c.(451-453)gCg>gTg	p.A151V	PDE2A_ENST00000540345.1_Missense_Mutation_p.A142V|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000540380.1_5'UTR|PDE2A_ENST00000444035.2_Missense_Mutation_p.A142V|PDE2A_ENST00000544570.1_Missense_Mutation_p.A144V|PDE2A_ENST00000418754.2_Intron	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	151					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CTCCTTGTCCGCTAGCGGCAT	0.652																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(451-453)gCg>gTg		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						60.0	45.0	50.0					11																	72307674		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72307674G>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.452C>T	11.37:g.72307674G>A	ENSP00000334910:p.Ala151Val					PDE2A_ENST00000540380.1_5'UTR|PDE2A_ENST00000444035.2_Missense_Mutation_p.A142V|PDE2A_ENST00000418754.2_Intron|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000540345.1_Missense_Mutation_p.A142V|PDE2A_ENST00000544570.1_Missense_Mutation_p.A144V	p.A151V	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		6	697	-			151					B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.452C>T	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	G	2.320	-0.355916	0.05138	.	.	ENSG00000186642	ENST00000334456;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000540345;ENST00000538749	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.61	2.02	0.26589	.	0.853835	0.09782	N	0.756576	T	0.39226	0.1070	N	0.08118	0	0.22918	N	0.99856	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	0.24297	-1.0164	10	0.02654	T	1	.	7.5505	0.27793	0.7515:0.0:0.2485:0.0	.	151;142;144;151	O00408;E9PGI1;F6W5Z0;B2R646	PDE2A_HUMAN;.;.;.	V	151;142;220;144;142;130	ENSP00000334910:A151V;ENSP00000411657:A142V;ENSP00000442256:A144V;ENSP00000446399:A142V;ENSP00000439683:A130V	ENSP00000334910:A151V	A	-	2	0	PDE2A	71985322	1.000000	0.71417	0.998000	0.56505	0.875000	0.50365	1.248000	0.32827	0.151000	0.19162	-1.140000	0.01884	GCG		0.652	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		18	49	0	0	0	1	0	18	49				
HSDL1	83693	broad.mit.edu	37	16	84163962	84163962	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:84163962G>A	ENST00000219439.4	-	4	471	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	HSDL1_ENST00000434463.3_Missense_Mutation_p.R99W	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	99						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						TCCTCGTTCCGACTAATCAGG	0.463																																						ENST00000219439.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(295-297)Cgg>Tgg		hydroxysteroid dehydrogenase like 1							123.0	123.0	123.0					16																	84163962		2200	4300	6500	SO:0001583	missense	83693					mitochondrion	oxidoreductase activity|protein binding	g.chr16:84163962G>A	AF237684	CCDS10942.1, CCDS54046.1	16q24	2011-09-20			ENSG00000103160	ENSG00000103160		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	16475	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 3"""					12153137, 19027726	Standard	NM_031463		Approved	SDR12C3	uc002fhk.2	Q3SXM5	OTTHUMG00000137635	ENST00000219439.4:c.295C>T	16.37:g.84163962G>A	ENSP00000219439:p.Arg99Trp					HSDL1_ENST00000434463.3_Missense_Mutation_p.R99W	p.R99W	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN			4	471	-			99					B4DSL2|D3DUL4|Q3SXM4|Q8NC98|Q9BY22	Missense_Mutation	SNP	ENST00000219439.4	37	c.295C>T	CCDS10942.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858212	0.32791	.	.	ENSG00000103160	ENST00000434463;ENST00000219439	T;D	0.92249	0.37;-3.0	5.36	3.34	0.38264	NAD(P)-binding domain (1);	0.488351	0.24204	N	0.040590	D	0.97526	0.9190	H	0.99182	4.46	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	D	0.91892	0.5524	10	0.87932	D	0	-23.9504	10.3674	0.44033	0.0:0.1316:0.5953:0.2731	.	99;99	B4DSL2;Q3SXM5	.;HSDL1_HUMAN	W	99	ENSP00000407437:R99W;ENSP00000219439:R99W	ENSP00000219439:R99W	R	-	1	2	HSDL1	82721463	0.894000	0.30519	0.007000	0.13788	0.024000	0.10985	4.192000	0.58378	0.708000	0.31955	-0.169000	0.13324	CGG		0.463	HSDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269076.3	NM_031463		11	181	0	0	0	1	0	11	181				
ANKRD33	341405	broad.mit.edu	37	12	52284371	52284371	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52284371C>T	ENST00000340970.4	+	5	637	c.266C>T	c.(265-267)gCt>gTt	p.A89V	ANKRD33_ENST00000301190.6_Missense_Mutation_p.A214V|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.A20V			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	89					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TTCCCAGGTGCTGACCTGACA	0.587																																						ENST00000301190.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(640-642)gCt>gTt		ankyrin repeat domain 33							18.0	18.0	18.0					12																	52284371		2203	4298	6501	SO:0001583	missense	341405							g.chr12:52284371C>T		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.266C>T	12.37:g.52284371C>T	ENSP00000344690:p.Ala89Val					ANKRD33_ENST00000340970.4_Missense_Mutation_p.A89V|ANKRD33_ENST00000538991.1_Missense_Mutation_p.A20V|ANKRD33_ENST00000547119.1_3'UTR	p.A214V	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	5	868	+			89					Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	c.641C>T	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404773	0.62288	.	.	ENSG00000167612	ENST00000301190;ENST00000538991;ENST00000340970	T;T;T	0.76060	-0.99;0.89;-0.99	4.84	4.84	0.62591	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.84037	0.5384	M	0.65498	2.005	0.47009	D	0.999281	B;B;D	0.89917	0.006;0.005;1.0	B;B;D	0.79784	0.019;0.011;0.993	D	0.83797	0.0234	10	0.46703	T	0.11	-5.9428	15.3383	0.74277	0.0:1.0:0.0:0.0	.	89;20;214	Q7Z3H0;Q0VAA8;Q7Z3H0-2	ANR33_HUMAN;.;.	V	214;20;89	ENSP00000301190:A214V;ENSP00000443722:A20V;ENSP00000344690:A89V	ENSP00000301190:A214V	A	+	2	0	ANKRD33	50570638	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.796000	0.62496	2.685000	0.91497	0.511000	0.50034	GCT		0.587	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		10	26	0	0	0	1	0	10	26				
SLC26A3	1811	broad.mit.edu	37	7	107432362	107432362	+	Missense_Mutation	SNP	C	C	T	rs150004100		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:107432362C>T	ENST00000340010.5	-	4	479	c.295G>A	c.(295-297)Gac>Aac	p.D99N	SLC26A3_ENST00000422236.2_Missense_Mutation_p.D64N	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	99					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GGGGGAATGTCGACCAGCAGA	0.448																																						ENST00000340010.5																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(295-297)Gac>Aac		solute carrier family 26 (anion exchanger), member 3		C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	114.0	94.0	101.0		295	1.8	0.4	7	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC26A3	NM_000111.2	23	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	99/765	107432362	2,13004	2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107432362C>T	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.295G>A	7.37:g.107432362C>T	ENSP00000345873:p.Asp99Asn					SLC26A3_ENST00000422236.2_Missense_Mutation_p.D64N	p.D99N	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			4	479	-			99						Missense_Mutation	SNP	ENST00000340010.5	37	c.295G>A	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	1.237	-0.622332	0.03636	2.27E-4	1.16E-4	ENSG00000091138	ENST00000422236;ENST00000340010;ENST00000453332	D;D;D	0.90844	-2.74;-2.74;-2.74	5.56	1.75	0.24633	.	0.421121	0.29699	N	0.011433	T	0.60287	0.2257	N	0.00150	-1.985	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.61623	-0.7025	10	0.10636	T	0.68	.	6.1929	0.20534	0.1189:0.1349:0.0:0.7462	.	64;99	G5E9U3;P40879	.;S26A3_HUMAN	N	64;99;99	ENSP00000415817:D64N;ENSP00000345873:D99N;ENSP00000395955:D99N	ENSP00000345873:D99N	D	-	1	0	SLC26A3	107219598	0.140000	0.22579	0.432000	0.26747	0.066000	0.16364	1.499000	0.35671	0.386000	0.24997	-0.483000	0.04790	GAC		0.448	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		17	56	0	0	0	1	0	17	56				
CKS2	1164	broad.mit.edu	37	9	91930190	91930190	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:91930190T>C	ENST00000314355.6	+	2	260	c.165T>C	c.(163-165)gtT>gtC	p.V55V	MIR3153_ENST00000580744.1_RNA	NM_001827.1	NP_001818.1	P33552	CKS2_HUMAN	CDC28 protein kinase regulatory subunit 2	55					cell proliferation (GO:0008283)|meiosis I (GO:0007127)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			kidney(1)|large_intestine(1)	2						TAGGCTGGGTTCATTACATGA	0.373																																						ENST00000314355.6																			0				kidney(1)|large_intestine(1)	2						c.(163-165)gtT>gtC		CDC28 protein kinase regulatory subunit 2							134.0	124.0	127.0					9																	91930190		2203	4300	6503	SO:0001819	synonymous_variant	1164				cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization		cyclin-dependent protein kinase regulator activity	g.chr9:91930190T>C	X54942	CCDS6682.1	9q22	2008-02-05	2002-10-07		ENSG00000123975	ENSG00000123975			2000	protein-coding gene	gene with protein product		116901	"""CDC28 protein kinase 2"""			2227411, 8697818	Standard	NM_001827		Approved		uc004aqh.3	P33552	OTTHUMG00000020180	ENST00000314355.6:c.165T>C	9.37:g.91930190T>C							p.V55V	NM_001827.1	NP_001818.1	P33552	CKS2_HUMAN			2	260	+			55					Q6FGI9|Q6LET5	Silent	SNP	ENST00000314355.6	37	c.165T>C	CCDS6682.1																																																																																				0.373	CKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052988.1	NM_001827		36	88	0	0	0	1	0	36	88				
KCNQ2	3785	broad.mit.edu	37	20	62076603	62076603	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:62076603A>G	ENST00000359125.2	-	3	676	c.502T>C	c.(502-504)Ttc>Ctc	p.F168L	KCNQ2_ENST00000360480.3_Missense_Mutation_p.F168L|KCNQ2_ENST00000354587.3_Missense_Mutation_p.F168L|RP11-358D14.2_ENST00000436263.1_RNA|KCNQ2_ENST00000357249.2_Missense_Mutation_p.F168L|KCNQ2_ENST00000344462.4_Missense_Mutation_p.F168L|KCNQ2_ENST00000370224.1_Missense_Mutation_p.F168L|KCNQ2_ENST00000344425.5_Missense_Mutation_p.F168L|KCNQ2_ENST00000359689.1_Missense_Mutation_p.F168L	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	168					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	ATCACACAGAACGGTTTCCGG	0.657																																						ENST00000354587.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(502-504)Ttc>Ctc		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						80.0	77.0	78.0					20																	62076603		2203	4300	6503	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62076603A>G	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.502T>C	20.37:g.62076603A>G	ENSP00000352035:p.Phe168Leu					KCNQ2_ENST00000357249.2_Missense_Mutation_p.F168L|KCNQ2_ENST00000344425.5_Missense_Mutation_p.F168L|KCNQ2_ENST00000370222.3_Missense_Mutation_p.F168L|KCNQ2_ENST00000370221.1_Missense_Mutation_p.F168L|KCNQ2_ENST00000359125.2_Missense_Mutation_p.F168L|KCNQ2_ENST00000370226.1_Missense_Mutation_p.F168L|KCNQ2_ENST00000360480.3_Missense_Mutation_p.F168L|KCNQ2_ENST00000359689.1_Missense_Mutation_p.F168L|KCNQ2_ENST00000344462.3_Missense_Mutation_p.F168L|KCNQ2_ENST00000430658.1_Missense_Mutation_p.F168L|KCNQ2_ENST00000370224.1_Missense_Mutation_p.F168L	p.F168L			O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		3	678	-	all_cancers(38;1.24e-11)		168					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.502T>C	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.481173	0.44147	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02	3.82	3.82	0.43975	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.96084	0.8724	N	0.02697	-0.525	0.58432	D	0.999999	B;B;D;D;D;D	0.76494	0.095;0.091;0.999;0.999;0.999;0.999	B;B;D;D;D;D	0.85130	0.139;0.208;0.994;0.997;0.994;0.996	D	0.94653	0.7841	10	0.25106	T	0.35	-11.3049	12.8759	0.57989	1.0:0.0:0.0:0.0	.	168;168;168;168;168;168	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	L	168	ENSP00000349789:F168L;ENSP00000352035:F168L;ENSP00000359246:F168L;ENSP00000346601:F168L;ENSP00000352718:F168L;ENSP00000399612:F168L;ENSP00000353668:F168L;ENSP00000339611:F168L;ENSP00000359244:F168L;ENSP00000359242:F168L;ENSP00000359241:F168L;ENSP00000345523:F168L	ENSP00000345523:F168L	F	-	1	0	KCNQ2	61547047	1.000000	0.71417	0.952000	0.39060	0.375000	0.29983	8.990000	0.93510	1.509000	0.48786	0.260000	0.18958	TTC		0.657	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		22	67	0	0	0	1	0	22	67				
KCMF1	56888	broad.mit.edu	37	2	85280508	85280508	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:85280508T>C	ENST00000409785.4	+	7	1481	c.1122T>C	c.(1120-1122)aaT>aaC	p.N374N		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	374							ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						ATAAAGGAAATGAGCCTCCAC	0.418																																						ENST00000409785.3																			0				ovary(3)	3						c.(1120-1122)aaT>aaC		potassium channel modulatory factor 1							50.0	51.0	51.0					2																	85280508		1954	4159	6113	SO:0001819	synonymous_variant	56888					intracellular	ligase activity|zinc ion binding	g.chr2:85280508T>C	AF155652	CCDS46350.1	2p11.2	2010-11-23			ENSG00000176407	ENSG00000176407		"""Zinc fingers, ZZ-type"""	20589	protein-coding gene	gene with protein product		614719					Standard	NM_020122		Approved	DEBT91, PCMF, DKFZP434L1021, ZZZ1	uc002sox.4	Q9P0J7	OTTHUMG00000153004	ENST00000409785.4:c.1122T>C	2.37:g.85280508T>C							p.N374N	NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN			7	1481	+			374					Q4ZG04|Q53SC7|Q9BWK2|Q9H8P5|Q9UFE8	Silent	SNP	ENST00000409785.4	37	c.1122T>C	CCDS46350.1																																																																																				0.418	KCMF1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328942.4	NM_020122		10	25	0	0	0	1	0	10	25				
IGKC	3514	broad.mit.edu	37	2	89157073	89157073	+	RNA	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:89157073T>C	ENST00000390237.2	-	0	123				AC096579.13_ENST00000452230.1_RNA|AC096579.7_ENST00000430694.1_RNA			P01834	IGKC_HUMAN	immunoglobulin kappa constant						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GTTATCCACCTTCCACTGTAC	0.537																																						ENST00000452230.1																			0																				86.0	85.0	85.0					2																	89157073		2107	4234	6341			0							g.chr2:89157073T>C	J00241		2p11.2	2013-01-14			ENSG00000211592	ENSG00000211592		"""Immunoglobulins / IGK locus"""	5716	other	immunoglobulin gene		147200				10354514	Standard	NG_000834		Approved	HCAK1		P01834	OTTHUMG00000151684		2.37:g.89157073T>C						IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA								0	39	-									RNA	SNP	ENST00000390237.2	37																																																																																						0.537	IGKC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000323482.1	NG_000834		17	45	0	0	0	1	0	17	45				
GTPBP1	9567	broad.mit.edu	37	22	39123307	39123307	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:39123307C>T	ENST00000216044.5	+	9	1724	c.1491C>T	c.(1489-1491)ctC>ctT	p.L497L		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	497					GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CCGAGATTCTCGTCCTCCACC	0.597																																						ENST00000216044.5																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18						c.(1489-1491)ctC>ctT		GTP binding protein 1							107.0	89.0	95.0					22																	39123307		2203	4300	6503	SO:0001819	synonymous_variant	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39123307C>T	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.1491C>T	22.37:g.39123307C>T							p.L497L	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN			9	1724	+	Melanoma(58;0.04)		497					Q6IC67	Silent	SNP	ENST00000216044.5	37	c.1491C>T	CCDS13977.2																																																																																				0.597	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		4	115	0	0	0	1	0	4	115				
TAS2R14	50840	broad.mit.edu	37	12	11091487	11091487	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:11091487T>A	ENST00000537503.1	-	1	375	c.320A>T	c.(319-321)tAt>tTt	p.Y107F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	107					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CTTGAGAAAATAAAAAGTACC	0.373																																						ENST00000537503.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						c.(319-321)tAt>tTt		taste receptor, type 2, member 14							47.0	49.0	48.0					12																	11091487		2201	4300	6501	SO:0001583	missense	50840				detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity	g.chr12:11091487T>A	AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000537503.1:c.320A>T	12.37:g.11091487T>A	ENSP00000441949:p.Tyr107Phe					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.Y107F	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN			1	375	-			107					Q645X3	Missense_Mutation	SNP	ENST00000537503.1	37	c.320A>T	CCDS8637.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922505	0.52653	.	.	ENSG00000212127	ENST00000537503	T	0.37411	1.2	4.13	4.13	0.48395	.	0.000000	0.56097	U	0.000025	T	0.65207	0.2669	M	0.92691	3.335	0.31487	N	0.666406	D	0.89917	1.0	D	0.91635	0.999	T	0.73626	-0.3923	10	0.72032	D	0.01	.	9.7003	0.40182	0.0:0.0:0.0:1.0	.	107	Q9NYV8	T2R14_HUMAN	F	107	ENSP00000441949:Y107F	ENSP00000375094:Y107F	Y	-	2	0	TAS2R14	10982754	0.982000	0.34865	0.992000	0.48379	0.440000	0.31957	3.459000	0.53021	1.857000	0.53885	0.496000	0.49642	TAT		0.373	TAS2R14-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370194.4	NM_023922		17	57	0	0	0	1	0	17	57				
HSPA13	6782	broad.mit.edu	37	21	15750672	15750672	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:15750672G>A	ENST00000285667.3	-	3	495	c.428C>T	c.(427-429)tCc>tTc	p.S143F	HSPA13_ENST00000478035.1_5'UTR|HSPA13_ENST00000544452.1_Intron	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	143						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ATATTCTGGGGACACTGTGAT	0.373																																						ENST00000285667.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(427-429)tCc>tTc		heat shock protein 70kDa family, member 13							101.0	91.0	94.0					21																	15750672		2203	4300	6503	SO:0001583	missense	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15750672G>A		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.428C>T	21.37:g.15750672G>A	ENSP00000285667:p.Ser143Phe					HSPA13_ENST00000544452.1_Intron|HSPA13_ENST00000478035.1_5'UTR	p.S143F	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN			3	495	-			143					B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	37	c.428C>T	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821212	0.71028	.	.	ENSG00000155304	ENST00000285667	T	0.01113	5.32	5.88	5.88	0.94601	.	0.161406	0.53938	D	0.000051	T	0.04318	0.0119	M	0.71920	2.185	0.80722	D	1	P	0.42203	0.773	P	0.47786	0.557	T	0.47156	-0.9139	10	0.41790	T	0.15	-6.4145	20.2187	0.98312	0.0:0.0:1.0:0.0	.	143	P48723	HSP13_HUMAN	F	143	ENSP00000285667:S143F	ENSP00000285667:S143F	S	-	2	0	HSPA13	14672543	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.341000	0.59335	2.780000	0.95670	0.655000	0.94253	TCC		0.373	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			4	44	0	0	0	1	0	4	44				
DBF4	10926	broad.mit.edu	37	7	87507395	87507395	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:87507395A>G	ENST00000265728.1	+	2	578	c.74A>G	c.(73-75)aAc>aGc	p.N25S	SLC25A40_ENST00000341119.5_5'Flank	NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	25					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AATGAAAAAAACAGACCATCT	0.308																																						ENST00000265728.1																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28						c.(73-75)aAc>aGc		DBF4 homolog (S. cerevisiae)							92.0	105.0	101.0					7																	87507395		2203	4300	6503	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87507395A>G	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.74A>G	7.37:g.87507395A>G	ENSP00000265728:p.Asn25Ser						p.N25S	NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN			2	578	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	25					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.74A>G	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	A	9.974	1.226205	0.22542	.	.	ENSG00000006634	ENST00000265728	T	0.10573	2.86	5.33	1.63	0.23807	.	0.208183	0.41500	D	0.000865	T	0.04588	0.0125	N	0.22421	0.69	0.23449	N	0.997657	P	0.34864	0.473	B	0.28553	0.091	T	0.36648	-0.9739	10	0.16896	T	0.51	-7.6372	3.4208	0.07393	0.362:0.0:0.2206:0.4173	.	25	Q9UBU7	DBF4A_HUMAN	S	25	ENSP00000265728:N25S	ENSP00000265728:N25S	N	+	2	0	DBF4	87345331	0.870000	0.30015	0.977000	0.42913	0.990000	0.78478	1.057000	0.30492	0.407000	0.25591	-0.341000	0.08007	AAC		0.308	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		47	162	0	0	0	1	0	47	162				
WDR33	55339	broad.mit.edu	37	2	128482686	128482686	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:128482686T>C	ENST00000322313.4	-	9	1113	c.955A>G	c.(955-957)Aac>Gac	p.N319D		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	319					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCTTTTAGGTTTCTGATATCA	0.398																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(955-957)Aac>Gac		WD repeat domain 33							96.0	95.0	95.0					2																	128482686		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128482686T>C		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.955A>G	2.37:g.128482686T>C	ENSP00000325377:p.Asn319Asp						p.N319D	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	9	1113	-	Colorectal(110;0.1)		319					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.955A>G	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.121684	0.77436	.	.	ENSG00000136709	ENST00000322313	T	0.01323	5.01	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.04770	0.0129	L	0.35644	1.08	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.60994	-0.7152	10	0.33940	T	0.23	-8.7137	15.6738	0.77300	0.0:0.0:0.0:1.0	.	319	Q9C0J8	WDR33_HUMAN	D	319	ENSP00000325377:N319D	ENSP00000325377:N319D	N	-	1	0	WDR33	128199156	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.846000	0.86887	2.103000	0.63969	0.460000	0.39030	AAC		0.398	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		20	41	0	0	0	1	0	20	41				
RRAGC	64121	broad.mit.edu	37	1	39322675	39322675	+	Missense_Mutation	SNP	T	T	C	rs374445701		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:39322675T>C	ENST00000373001.3	-	2	493	c.317A>G	c.(316-318)aAt>aGt	p.N106S	RP5-864K19.4_ENST00000433671.2_RNA	NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				AAAGGAGCTATTGGAAATGTC	0.403																																						ENST00000373001.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10						c.(316-318)aAt>aGt		Ras-related GTP binding C		T	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	120.0	127.0	125.0		317	5.6	1.0	1		125	0,8600		0,0,4300	no	missense	RRAGC	NM_022157.2	46	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	106/400	39322675	1,13005	2203	4300	6503	SO:0001583	missense	64121				apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity	g.chr1:39322675T>C	AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.317A>G	1.37:g.39322675T>C	ENSP00000362092:p.Asn106Ser						p.N106S	NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN			2	493	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	106						Missense_Mutation	SNP	ENST00000373001.3	37	c.317A>G	CCDS430.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.041357	0.35989	2.27E-4	0.0	ENSG00000116954	ENST00000373001	D	0.81821	-1.54	5.59	5.59	0.84812	.	0.042108	0.85682	D	0.000000	T	0.74313	0.3700	L	0.55103	1.725	0.51233	D	0.999914	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.68051	-0.5511	10	0.21014	T	0.42	-51.637	11.1767	0.48603	0.0:0.0717:0.0:0.9283	.	40;106	D3DPT8;Q9HB90	.;RRAGC_HUMAN	S	106	ENSP00000362092:N106S	ENSP00000362092:N106S	N	-	2	0	RRAGC	39095262	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.554000	0.60760	2.245000	0.73994	0.455000	0.32223	AAT		0.403	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2	NM_022157		5	162	0	0	0	1	0	5	162				
AKAP2	11217	broad.mit.edu	37	9	112900744	112900744	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:112900744T>C	ENST00000259318.7	+	2	2434	c.2227T>C	c.(2227-2229)Ttg>Ctg	p.L743L	PALM2-AKAP2_ENST00000374530.3_Silent_p.L974L|AKAP2_ENST00000434623.2_Silent_p.L832L|PALM2-AKAP2_ENST00000302798.7_Silent_p.L974L|AKAP2_ENST00000555236.1_Silent_p.L974L|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000510514.5_Silent_p.L974L|AKAP2_ENST00000374525.1_Silent_p.L832L	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	743										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						GAGACAAGTCTTGCAGAGTAC	0.532																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2920-2922)Ttg>Ctg									87.0	81.0	83.0					9																	112900744		2203	4300	6503	SO:0001819	synonymous_variant	445815						enzyme binding	g.chr9:112900744T>C	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.2227T>C	9.37:g.112900744T>C						AKAP2_ENST00000510514.5_Silent_p.L974L|PALM2-AKAP2_ENST00000302798.7_Silent_p.L974L|AKAP2_ENST00000555236.1_Silent_p.L974L|AKAP2_ENST00000259318.7_Silent_p.L743L|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000374525.1_Silent_p.L832L|AKAP2_ENST00000434623.2_Silent_p.L832L	p.L974L	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	3100	+			743					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	37	c.2920T>C	CCDS48003.1																																																																																				0.532	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		4	74	0	0	0	1	0	4	74				
IER5L	389792	broad.mit.edu	37	9	131939288	131939288	+	Silent	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:131939288C>A	ENST00000372491.2	-	1	1252	c.1044G>T	c.(1042-1044)ccG>ccT	p.P348P	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	348													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		TGGACGCGTCCGGGGACGAGT	0.716																																						ENST00000372491.2																			0											c.(1042-1044)ccG>ccT		immediate early response 5-like							11.0	15.0	14.0					9																	131939288		1839	4069	5908	SO:0001819	synonymous_variant	389792							g.chr9:131939288C>A	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.1044G>T	9.37:g.131939288C>A						RP11-247A12.2_ENST00000372490.3_RNA|RP11-247A12.8_ENST00000599172.2_RNA	p.P348P	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	1	1252	-		Ovarian(14;0.0448)|Medulloblastoma(224;0.235)	348					Q6P3E2	Silent	SNP	ENST00000372491.2	37	c.1044G>T	CCDS43888.1																																																																																				0.716	IER5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054556.2			6	21	1	0	0.00116845	1	0.00118101	6	21				
SMARCA4	6597	broad.mit.edu	37	19	11132435	11132435	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11132435A>G	ENST00000429416.3	+	20	2932	c.2651A>G	c.(2650-2652)cAc>cGc	p.H884R	SMARCA4_ENST00000444061.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000541122.2_Missense_Mutation_p.H884R|SMARCA4_ENST00000358026.2_Missense_Mutation_p.H884R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.H884R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.H884R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.H884R	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	884	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.H884P(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GACGAAGGTCACCGCATGAAG	0.622			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		2	Substitution - Missense(1)|Unknown(1)	p.H884P(1)|p.?(1)	lung(1)|central_nervous_system(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2650-2652)cAc>cGc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							82.0	64.0	70.0					19																	11132435		2202	4300	6502	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11132435A>G	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2651A>G	19.37:g.11132435A>G	ENSP00000395654:p.His884Arg					SMARCA4_ENST00000541122.2_Missense_Mutation_p.H884R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.H884R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.H884R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.H884R|SMARCA4_ENST00000444061.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000429416.3_Missense_Mutation_p.H884R	p.H884R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			19	2935	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	884			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2651A>G	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.397831	0.83120	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86	4.66	4.66	0.58398	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.98901	4.365	0.80722	D	1	D;D;D;P;P;D;D;D	0.89917	0.975;0.975;0.975;0.933;0.592;1.0;0.975;0.975	P;P;P;P;P;D;P;P	0.76575	0.838;0.838;0.838;0.759;0.449;0.988;0.838;0.838	D	0.98260	1.0498	10	0.87932	D	0	-53.571	13.2208	0.59885	1.0:0.0:0.0:0.0	.	884;884;884;884;884;104;884;884	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	R	884;884;948;884;884;884;884;884	ENSP00000395654:H884R;ENSP00000350720:H884R;ENSP00000343896:H884R;ENSP00000445036:H884R;ENSP00000392837:H884R;ENSP00000397783:H884R;ENSP00000414727:H884R	ENSP00000343896:H884R	H	+	2	0	SMARCA4	10993435	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.139000	0.94554	1.964000	0.57103	0.533000	0.62120	CAC		0.622	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		8	33	0	0	0	1	0	8	33				
LSG1	55341	broad.mit.edu	37	3	194380832	194380832	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:194380832T>C	ENST00000265245.5	-	6	866	c.552A>G	c.(550-552)cgA>cgG	p.R184R		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	184	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		GGAGTGGGTTTCGAGCATCTA	0.418																																						ENST00000265245.5																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16						c.(550-552)cgA>cgG		large 60S subunit nuclear export GTPase 1							141.0	124.0	130.0					3																	194380832		2203	4300	6503	SO:0001819	synonymous_variant	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194380832T>C		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.552A>G	3.37:g.194380832T>C							p.R184R	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	6	866	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		184					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Silent	SNP	ENST00000265245.5	37	c.552A>G	CCDS33922.1																																																																																				0.418	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		4	86	0	0	0	1	0	4	86				
SPEG	10290	broad.mit.edu	37	2	220348596	220348596	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:220348596G>A	ENST00000312358.7	+	30	6543	c.6411G>A	c.(6409-6411)gaG>gaA	p.E2137E	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2137					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTGAGGCGGAgccccggggcc	0.721																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(6409-6411)gaG>gaA		SPEG complex locus							7.0	10.0	9.0					2																	220348596		1809	3972	5781	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220348596G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.6411G>A	2.37:g.220348596G>A						AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.E2137E	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	30	6543	+		Renal(207;0.0183)	2137					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.6411G>A	CCDS42824.1																																																																																				0.721	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		13	23	0	0	0	1	0	13	23				
USF1	7391	broad.mit.edu	37	1	161011565	161011565	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:161011565A>G	ENST00000368021.3	-	6	552	c.348T>C	c.(346-348)taT>taC	p.Y116Y	F11R_ENST00000289779.3_5'Flank|TSTD1_ENST00000423014.2_5'Flank|USF1_ENST00000368019.1_Silent_p.Y116Y|TSTD1_ENST00000318289.10_5'Flank|TSTD1_ENST00000368024.1_5'Flank|USF1_ENST00000435396.1_Silent_p.Y57Y|TSTD1_ENST00000368023.3_5'Flank|USF1_ENST00000368020.1_Silent_p.Y116Y	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	116					carbon catabolite regulation of transcription (GO:0045990)|cellular response to insulin stimulus (GO:0032869)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|negative regulation of fibrinolysis (GO:0051918)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGAAGTAAGTATAGTGCGTCT	0.577											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368021.3																			0				central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(346-348)taT>taC		upstream transcription factor 1							95.0	88.0	90.0					1																	161011565		2203	4300	6503	SO:0001819	synonymous_variant	7391				cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr1:161011565A>G	BC035505	CCDS1214.1	1q22-q23	2013-05-21			ENSG00000158773	ENSG00000158773		"""Basic helix-loop-helix proteins"""	12593	protein-coding gene	gene with protein product		191523				8486371	Standard	NM_007122		Approved	UEF, MLTFI, bHLHb11	uc031pqv.1	P22415	OTTHUMG00000031472	ENST00000368021.3:c.348T>C	1.37:g.161011565A>G			OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1813	USF1_ENST00000435396.1_Silent_p.Y57Y|USF1_ENST00000368020.1_Silent_p.Y116Y|USF1_ENST00000368019.1_Silent_p.Y116Y	p.Y116Y	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		6	552	-	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		116					B2RBZ4|Q5SY46|Q7Z5Y1	Silent	SNP	ENST00000368021.3	37	c.348T>C	CCDS1214.1																																																																																				0.577	USF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077050.1	NM_007122		24	105	0	0	0	1	0	24	105				
SLC30A10	55532	broad.mit.edu	37	1	220088800	220088800	+	Silent	SNP	C	C	T	rs148203711		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:220088800C>T	ENST00000366926.3	-	4	1610	c.1449G>A	c.(1447-1449)acG>acA	p.T483T	SLC30A10_ENST00000536446.1_Silent_p.T238T|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	483					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		ATTAAAAATGCGTTCTGTTGA	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		22152	0.0		0.0	False		,,,				2504	0.001				Colon(76;360 1614 43677 51136)	ENST00000366926.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13						c.(1447-1449)acG>acA		solute carrier family 30, member 10		C		0,4406		0,0,2203	193.0	187.0	189.0		1449	-12.3	0.0	1	dbSNP_134	189	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLC30A10	NM_018713.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		483/486	220088800	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55532				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr1:220088800C>T	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.1449G>A	1.37:g.220088800C>T						SLC30A10_ENST00000536446.1_Silent_p.T238T|SLC30A10_ENST00000484079.1_5'UTR	p.T483T	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN		GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)	4	1610	-			483					Q49AL9|Q9NPW0	Silent	SNP	ENST00000366926.3	37	c.1449G>A	CCDS31026.1																																																																																				0.438	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713		59	218	0	0	0	1	0	59	218				
MRGPRX1	259249	broad.mit.edu	37	11	18955510	18955510	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18955510G>A	ENST00000302797.3	-	1	1046	c.822C>T	c.(820-822)ttC>ttT	p.F274F	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'Flank	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	274					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGAGCCCACGAAGAAGTAAA	0.512																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(820-822)ttC>ttT		MAS-related GPR, member X1							77.0	75.0	76.0					11																	18955510		2194	4284	6478	SO:0001819	synonymous_variant	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955510G>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.822C>T	11.37:g.18955510G>A							p.F274F	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	1046	-			274					Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	c.822C>T	CCDS7846.1																																																																																				0.512	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		26	57	0	0	0	1	0	26	57				
SPHKAP	80309	broad.mit.edu	37	2	228882035	228882035	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:228882035T>C	ENST00000392056.3	-	7	3581	c.3535A>G	c.(3535-3537)Agc>Ggc	p.S1179G	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1179G	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1179						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGGGACAGCTAGGCCTCACA	0.532																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(3535-3537)Agc>Ggc		SPHK1 interactor, AKAP domain containing							84.0	79.0	81.0					2																	228882035		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882035T>C		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3535A>G	2.37:g.228882035T>C	ENSP00000375909:p.Ser1179Gly					SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1179G	p.S1179G	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3581	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1179					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3535A>G	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	9.591	1.126206	0.20959	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.42131	0.98;0.98	5.73	4.58	0.56647	.	0.210767	0.64402	N	0.000017	T	0.32823	0.0842	L	0.32530	0.975	0.31339	N	0.683929	B;B;B	0.28933	0.084;0.125;0.228	B;B;B	0.31191	0.04;0.028;0.125	T	0.37430	-0.9706	10	0.46703	T	0.11	-9.8235	10.7058	0.45954	0.0:0.0743:0.0:0.9257	.	210;1179;1179	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	G	1179	ENSP00000375909:S1179G;ENSP00000339886:S1179G	ENSP00000339886:S1179G	S	-	1	0	SPHKAP	228590279	0.996000	0.38824	0.606000	0.28943	0.337000	0.28794	2.761000	0.47589	1.014000	0.39417	0.459000	0.35465	AGC		0.532	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		14	95	0	0	0	1	0	14	95				
PRUNE2	158471	broad.mit.edu	37	9	79323182	79323182	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:79323182C>A	ENST00000376718.3	-	8	4131	c.4008G>T	c.(4006-4008)agG>agT	p.R1336S	PRUNE2_ENST00000428286.1_Missense_Mutation_p.R977S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1336					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAAGGTGCCCCCTGTCAGTGG	0.527																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(2929-2931)agG>agT		prune homolog 2 (Drosophila)							65.0	61.0	62.0					9																	79323182		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79323182C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4008G>T	9.37:g.79323182C>A	ENSP00000365908:p.Arg1336Ser					PRUNE2_ENST00000376718.3_Missense_Mutation_p.R1336S	p.R977S			Q8WUY3	PRUN2_HUMAN			8	4131	-			1336					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.2931G>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.79|12.79	2.043373|2.043373	0.36085|0.36085	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.44083	.|0.93;0.93	5.45|5.45	-1.9|-1.9	0.07665|0.07665	.|.	.|1.311920	.|0.04969	.|N	.|0.463544	T|T	0.30634|0.30634	0.0771|0.0771	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B	.|0.14805	.|0.011	.|B	.|0.10450	.|0.005	T|T	0.19910|0.19910	-1.0291|-1.0291	5|10	.|0.37606	.|T	.|0.19	0.0575|0.0575	2.0427|2.0427	0.03553|0.03553	0.131:0.3147:0.1219:0.4325|0.131:0.3147:0.1219:0.4325	.|.	.|1336	.|Q8WUY3	.|PRUN2_HUMAN	W|S	658|1336;977;1335	.|ENSP00000365908:R1336S;ENSP00000397425:R977S	.|ENSP00000365908:R1336S	G|R	-|-	1|3	0|2	PRUNE2|PRUNE2	78513002|78513002	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.424000|-1.424000	0.02448|0.02448	-0.296000|-0.296000	0.08947|0.08947	0.650000|0.650000	0.86243|0.86243	GGG|AGG		0.527	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		17	66	1	0	1.99824e-07	1	2.05285e-07	17	66				
RNASE4	6038	broad.mit.edu	37	14	21167683	21167683	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:21167683C>T	ENST00000555835.1	+	2	829	c.153C>T	c.(151-153)cgC>cgT	p.R51R	AL163636.6_ENST00000553909.1_3'UTR|RP11-903H12.3_ENST00000554286.1_RNA|RNASE4_ENST00000304704.4_Silent_p.R51R|RNASE4_ENST00000397995.2_Silent_p.R51R|RNASE4_ENST00000555597.1_Silent_p.R51R	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	51					cellular response to starvation (GO:0009267)|mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		GCAGTGATCGCTACTGCAACT	0.527																																					Esophageal Squamous(59;1059 1362 26290 51151)	ENST00000555835.1																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(151-153)cgC>cgT		ribonuclease, RNase A family, 4							141.0	116.0	125.0					14																	21167683		2203	4300	6503	SO:0001819	synonymous_variant	6038				mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21167683C>T	U36775	CCDS9555.1	14q11	2014-07-16			ENSG00000258818	ENSG00000258818		"""Ribonucleases, RNase A"""	10047	protein-coding gene	gene with protein product		601030				7501448	Standard	NM_002937		Approved		uc001vxy.4	P34096	OTTHUMG00000029575	ENST00000555835.1:c.153C>T	14.37:g.21167683C>T						RNASE4_ENST00000555597.1_Silent_p.R51R|RNASE4_ENST00000304704.4_Silent_p.R51R|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000397995.2_Silent_p.R51R|AL163636.6_ENST00000553909.1_RNA	p.R51R	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)	2	829	+	all_cancers(95;0.00304)		51						Silent	SNP	ENST00000555835.1	37	c.153C>T	CCDS9555.1																																																																																				0.527	RNASE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073729.3			41	102	0	0	0	1	0	41	102				
SGTA	6449	broad.mit.edu	37	19	2763675	2763675	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:2763675T>C	ENST00000221566.2	-	6	634	c.473A>G	c.(472-474)tAc>tGc	p.Y158C		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	158					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTTGCTGTAGGCCGGGTC	0.642																																						ENST00000221566.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(472-474)tAc>tGc		small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha							64.0	55.0	58.0					19																	2763675		2203	4300	6503	SO:0001583	missense	6449				interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2763675T>C	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.473A>G	19.37:g.2763675T>C	ENSP00000221566:p.Tyr158Cys						p.Y158C	NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	634	-		Hepatocellular(1079;0.137)	158					D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	ENST00000221566.2	37	c.473A>G	CCDS12094.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.145531	0.77888	.	.	ENSG00000104969	ENST00000221566	T	0.32515	1.45	4.33	4.33	0.51752	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.64821	0.2633	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75036	-0.3459	10	0.87932	D	0	-15.7444	12.3366	0.55071	0.0:0.0:0.0:1.0	.	158	O43765	SGTA_HUMAN	C	158	ENSP00000221566:Y158C	ENSP00000221566:Y158C	Y	-	2	0	SGTA	2714675	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.603000	0.82811	1.582000	0.49881	0.379000	0.24179	TAC		0.642	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		11	23	0	0	0	1	0	11	23				
SIRT4	23409	broad.mit.edu	37	12	120750395	120750395	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:120750395G>C	ENST00000202967.4	+	3	693	c.634G>C	c.(634-636)Gtc>Ctc	p.V212L	RNU6-1088P_ENST00000516850.1_RNA|SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGAGGAGCAAGTCCGGAGCTT	0.557																																						ENST00000202967.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(634-636)Gtc>Ctc		sirtuin 4							64.0	60.0	62.0					12																	120750395		2203	4300	6503	SO:0001583	missense	23409				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr12:120750395G>C	AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.634G>C	12.37:g.120750395G>C	ENSP00000202967:p.Val212Leu					SIRT4_ENST00000537892.1_3'UTR	p.V212L	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN			3	693	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		212			Deacetylase sirtuin-type.			Missense_Mutation	SNP	ENST00000202967.4	37	c.634G>C	CCDS9194.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716587	0.68844	.	.	ENSG00000089163	ENST00000202967	T	0.16897	2.31	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.27454	0.0674	L	0.52126	1.63	0.80722	D	1	P	0.51933	0.949	P	0.51297	0.665	T	0.01341	-1.1380	10	0.32370	T	0.25	-19.7379	18.1323	0.89605	0.0:0.0:1.0:0.0	.	212	Q9Y6E7	SIRT4_HUMAN	L	212	ENSP00000202967:V212L	ENSP00000202967:V212L	V	+	1	0	SIRT4	119234778	1.000000	0.71417	0.990000	0.47175	0.725000	0.41563	9.469000	0.97679	2.442000	0.82660	0.585000	0.79938	GTC		0.557	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240		5	98	0	0	0	1	0	5	98				
NOMO1	23420	broad.mit.edu	37	16	14968915	14968915	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:14968915G>A	ENST00000287667.7	+	19	2248	c.2077G>A	c.(2077-2079)Gcc>Acc	p.A693T		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	693						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CAGTGAACCCGCCTTGGTCTT	0.557																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(2077-2079)Gcc>Acc		NODAL modulator 1							69.0	76.0	73.0					16																	14968915		2195	4299	6494	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14968915G>A	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.2077G>A	16.37:g.14968915G>A	ENSP00000287667:p.Ala693Thr						p.A693T	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			19	2248	+			693					P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.2077G>A	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	15.46	2.840316	0.51057	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.03982	3.74	2.86	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.04092	0.0114	L	0.57536	1.79	0.80722	D	1	P	0.40107	0.703	B	0.23716	0.048	T	0.49390	-0.8945	10	0.12430	T	0.62	-30.6412	11.5317	0.50614	0.0:0.0:1.0:0.0	.	693	Q15155	NOMO1_HUMAN	T	693;693;526	ENSP00000287667:A693T	ENSP00000287667:A693T	A	+	1	0	NOMO1	14876416	1.000000	0.71417	0.680000	0.29994	0.437000	0.31866	8.516000	0.90552	1.590000	0.49995	0.184000	0.17185	GCC		0.557	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			45	90	0	0	0	1	0	45	90				
PRAMEF4	400735	broad.mit.edu	37	1	12939549	12939549	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:12939549G>A	ENST00000235349.5	-	4	1323	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	418					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCTCCCGGGGGGCAGGATA	0.517																																						ENST00000235349.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24						c.(1252-1254)cCc>cTc		PRAME family member 4							92.0	101.0	98.0					1																	12939549		1503	2687	4190	SO:0001583	missense	400735							g.chr1:12939549G>A		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.1253C>T	1.37:g.12939549G>A	ENSP00000235349:p.Pro418Leu						p.P418L	NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1323	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	418					Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	c.1253C>T	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739492	0.30774	.	.	ENSG00000243073	ENST00000235349	T	0.11495	2.77	1.48	1.48	0.22813	.	0.000000	0.85682	D	0.000000	T	0.31888	0.0811	M	0.89353	3.025	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02431	-1.1160	10	0.72032	D	0.01	.	6.4564	0.21932	0.0:0.0:1.0:0.0	.	418	O60810	PRAM4_HUMAN	L	418	ENSP00000235349:P418L	ENSP00000235349:P418L	P	-	2	0	PRAMEF4	12862136	0.140000	0.22579	0.006000	0.13384	0.003000	0.03518	2.402000	0.44521	1.137000	0.42214	0.400000	0.26472	CCC		0.517	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		15	873	0	0	0	1	0	15	873				
PPFIBP1	8496	broad.mit.edu	37	12	27845798	27845798	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:27845798G>A	ENST00000318304.8	+	29	3302	c.3019G>A	c.(3019-3021)Gaa>Aaa	p.E1007K	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.E976K|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.E854K|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.E1001K	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	1007					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CATTACAGATGAAGACTCAAA	0.428																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(3019-3021)Gaa>Aaa		PTPRF interacting protein, binding protein 1 (liprin beta 1)							88.0	83.0	85.0					12																	27845798		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27845798G>A	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.3019G>A	12.37:g.27845798G>A	ENSP00000314724:p.Glu1007Lys					PPFIBP1_ENST00000542629.1_Missense_Mutation_p.E976K|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.E1001K|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.E854K	p.E1007K	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			29	3302	+	Lung SC(9;0.0873)		1007					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.3019G>A	CCDS55812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.745962|4.745962	0.89663|0.89663	.|.	.|.	ENSG00000110841|ENSG00000110841	ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425|ENST00000539326	T;T;T;T|.	0.36520|.	1.25;1.67;1.67;1.69|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.000000|.	0.35151|.	U|.	0.003420|.	T|T	0.68430|0.68430	0.3000|0.3000	L|L	0.44542|0.44542	1.39|1.39	0.58432|0.58432	D|D	0.999997|0.999997	P;P;P|.	0.52061|.	0.82;0.95;0.734|.	P;P;P|.	0.55391|.	0.515;0.775;0.648|.	T|T	0.62909|0.62909	-0.6754|-0.6754	10|5	0.72032|.	D|.	0.01|.	-26.925|-26.925	19.4321|19.4321	0.94775|0.94775	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1007;1001;976|.	Q86W92;Q86W92-2;Q86W92-4|.	LIPB1_HUMAN;.;.|.	K|I	854;1007;976;1001|237	ENSP00000445425:E854K;ENSP00000314724:E1007K;ENSP00000443442:E976K;ENSP00000228425:E1001K|.	ENSP00000228425:E1001K|.	E|M	+|+	1|3	0|0	PPFIBP1|PPFIBP1	27737065|27737065	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.975000|0.975000	0.68041|0.68041	8.779000|8.779000	0.91792|0.91792	2.770000|2.770000	0.95276|0.95276	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.428	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		16	67	0	0	0	1	0	16	67				
NUDCD1	84955	broad.mit.edu	37	8	110305700	110305700	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:110305700T>C	ENST00000239690.4	-	4	887	c.513A>G	c.(511-513)tcA>tcG	p.S171S	NUDCD1_ENST00000427660.2_Silent_p.S142S	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CATTTAGCAGTGAGATACTGT	0.323																																						ENST00000239690.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25						c.(511-513)tcA>tcG		NudC domain containing 1							116.0	122.0	120.0					8																	110305700		2203	4300	6503	SO:0001819	synonymous_variant	84955							g.chr8:110305700T>C	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.513A>G	8.37:g.110305700T>C						NUDCD1_ENST00000427660.2_Silent_p.S142S	p.S171S	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		4	887	-	all_neural(195;0.219)		171						Silent	SNP	ENST00000239690.4	37	c.513A>G	CCDS6312.1																																																																																				0.323	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		24	105	0	0	0	1	0	24	105				
CEMIP	57214	broad.mit.edu	37	15	81229133	81229133	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:81229133A>G	ENST00000394685.3	+	24	3547	c.3128A>G	c.(3127-3129)tAc>tGc	p.Y1043C	KIAA1199_ENST00000220244.3_Missense_Mutation_p.Y1043C|KIAA1199_ENST00000356249.5_Missense_Mutation_p.Y1043C|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		1043					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TACCAGCAATACCAACCGGTT	0.562																																						ENST00000394685.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3127-3129)tAc>tGc		KIAA1199							96.0	102.0	100.0					15																	81229133		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81229133A>G																												ENST00000394685.3:c.3128A>G	15.37:g.81229133A>G	ENSP00000378177:p.Tyr1043Cys					RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.Y1043C|KIAA1199_ENST00000356249.5_Missense_Mutation_p.Y1043C	p.Y1043C			Q8WUJ3	K1199_HUMAN			24	3547	+			1043					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.3128A>G	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.507690	0.44558	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249	T;T;T	0.60548	0.18;0.18;0.18	5.4	4.28	0.50868	.	0.063320	0.64402	D	0.000005	T	0.72447	0.3461	M	0.79011	2.435	0.44395	D	0.997307	D	0.76494	0.999	D	0.64042	0.921	T	0.74722	-0.3569	10	0.72032	D	0.01	-27.0841	11.1204	0.48287	0.9274:0.0:0.0726:0.0	.	1043	Q8WUJ3	K1199_HUMAN	C	1043	ENSP00000220244:Y1043C;ENSP00000378177:Y1043C;ENSP00000348583:Y1043C	ENSP00000220244:Y1043C	Y	+	2	0	KIAA1199	79016188	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	2.849000	0.48286	0.892000	0.36259	-0.456000	0.05471	TAC		0.562	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			46	101	0	0	0	1	0	46	101				
NLRP12	91662	broad.mit.edu	37	19	54310864	54310864	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54310864A>G	ENST00000324134.6	-	4	2296	c.2128T>C	c.(2128-2130)Tgc>Cgc	p.C710R	NLRP12_ENST00000351894.4_Missense_Mutation_p.C710R|NLRP12_ENST00000345770.5_Missense_Mutation_p.C711R|NLRP12_ENST00000391775.3_Missense_Mutation_p.C710R|NLRP12_ENST00000391772.1_Missense_Mutation_p.C711R|NLRP12_ENST00000535162.1_Missense_Mutation_p.C710R|NLRP12_ENST00000391773.1_Missense_Mutation_p.C711R|NLRP12_ENST00000354278.3_Missense_Mutation_p.C710R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	710					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGATTGGTGCACAGGGCCGCT	0.567																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(2128-2130)Tgc>Cgc		NLR family, pyrin domain containing 12							104.0	89.0	94.0					19																	54310864		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54310864A>G	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2128T>C	19.37:g.54310864A>G	ENSP00000319377:p.Cys710Arg					NLRP12_ENST00000354278.3_Missense_Mutation_p.C710R|NLRP12_ENST00000351894.4_Missense_Mutation_p.C710R|NLRP12_ENST00000345770.5_Missense_Mutation_p.C711R|NLRP12_ENST00000391772.1_Missense_Mutation_p.C711R|NLRP12_ENST00000391773.1_Missense_Mutation_p.C711R|NLRP12_ENST00000535162.1_Missense_Mutation_p.C710R|NLRP12_ENST00000391775.3_Missense_Mutation_p.C710R	p.C710R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	4	2296	-	Ovarian(34;0.19)		710					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.2128T>C	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	A	5.682	0.310363	0.10733	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.89875	-2.12;-2.12;-2.12;-2.12;-2.12;-2.58;-2.58	3.86	-3.28	0.05033	.	0.405910	0.17655	N	0.166526	T	0.74222	0.3688	N	0.25647	0.755	0.18873	N	0.999987	B;B;B;B	0.11235	0.004;0.001;0.004;0.002	B;B;B;B	0.09377	0.004;0.002;0.004;0.004	T	0.58819	-0.7569	10	0.16896	T	0.51	.	4.5053	0.11885	0.2064:0.0:0.2357:0.5579	.	711;710;710;710	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	R	710;710;710;710;710;711;711;711	ENSP00000319377:C710R;ENSP00000438030:C710R;ENSP00000340473:C710R;ENSP00000346231:C710R;ENSP00000375655:C710R;ENSP00000375653:C711R;ENSP00000375652:C711R	ENSP00000319377:C710R	C	-	1	0	NLRP12	59002676	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-0.337000	0.07852	-0.489000	0.06716	0.454000	0.30748	TGC		0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		25	71	0	0	0	1	0	25	71				
NCOA2	10499	broad.mit.edu	37	8	71060681	71060681	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:71060681T>A	ENST00000452400.2	-	12	2613	c.2432A>T	c.(2431-2433)gAt>gTt	p.D811V	NCOA2_ENST00000267974.4_5'Flank	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	811					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)	p.D811V(1)	PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CTGCAAATCATCCAAAATCTC	0.478			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""						OREG0018819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	1	Substitution - Missense(1)	p.D811V(1)	lung(1)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(2431-2433)gAt>gTt		nuclear receptor coactivator 2							87.0	87.0	87.0					8																	71060681		1913	4136	6049	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71060681T>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2432A>T	8.37:g.71060681T>A	ENSP00000399968:p.Asp811Val		OREG0018819	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1127		p.D811V	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		12	2613	-	Breast(64;0.201)		811					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.2432A>T	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.487010	0.84854	.	.	ENSG00000140396	ENST00000452400	T	0.01705	4.68	6.06	6.06	0.98353	.	0.045228	0.85682	D	0.000000	T	0.02304	0.0071	L	0.32530	0.975	0.80722	D	1	P	0.50156	0.932	B	0.39185	0.293	T	0.60495	-0.7252	10	0.72032	D	0.01	.	16.6127	0.84892	0.0:0.0:0.0:1.0	.	811	Q15596	NCOA2_HUMAN	V	811	ENSP00000399968:D811V	ENSP00000399968:D811V	D	-	2	0	NCOA2	71223235	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.499000	0.81566	2.322000	0.78497	0.528000	0.53228	GAT		0.478	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			20	88	0	0	0	1	0	20	88				
MIDN	90007	broad.mit.edu	37	19	1254932	1254932	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1254932G>A	ENST00000591446.2	+	5	1137	c.728G>A	c.(727-729)aGt>aAt	p.S243N	MIDN_ENST00000300952.2_Missense_Mutation_p.S243N			Q504T8	MIDN_HUMAN	midnolin	243						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGCAGCAGTGCCAGTCCT	0.667																																						ENST00000300952.2																			0				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(727-729)aGt>aAt		midnolin							63.0	68.0	66.0					19																	1254932		2203	4299	6502	SO:0001583	missense	90007					nucleolus		g.chr19:1254932G>A	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.728G>A	19.37:g.1254932G>A	ENSP00000467679:p.Ser243Asn					MIDN_ENST00000591446.2_Missense_Mutation_p.S243N	p.S243N	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1243	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	243					Q96BW8	Missense_Mutation	SNP	ENST00000591446.2	37	c.728G>A	CCDS32864.1	.	.	.	.	.	.	.	.	.	.	G	9.349	1.065036	0.20067	.	.	ENSG00000167470	ENST00000300952	.	.	.	2.52	2.52	0.30459	.	1.186920	0.06082	N	0.661949	T	0.39733	0.1089	N	0.22421	0.69	0.34530	D	0.709149	B	0.02656	0.0	B	0.01281	0.0	T	0.41142	-0.9525	9	0.42905	T	0.14	-4.3157	8.2061	0.31456	0.0:0.0:1.0:0.0	.	243	Q504T8	MIDN_HUMAN	N	243	.	ENSP00000300952:S243N	S	+	2	0	MIDN	1205932	0.002000	0.14202	0.476000	0.27291	0.028000	0.11728	0.472000	0.22116	1.212000	0.43366	0.561000	0.74099	AGT		0.667	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			36	133	0	0	0	1	0	36	133				
RBBP6	5930	broad.mit.edu	37	16	24580555	24580555	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:24580555A>G	ENST00000319715.4	+	17	2976	c.2544A>G	c.(2542-2544)ggA>ggG	p.G848G	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Silent_p.G814G	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	848					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ATGCTGCTGGAGCACAGCCTA	0.418																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(2542-2544)ggA>ggG		retinoblastoma binding protein 6							48.0	52.0	51.0					16																	24580555		2192	4297	6489	SO:0001819	synonymous_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24580555A>G		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.2544A>G	16.37:g.24580555A>G						RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Silent_p.G814G	p.G848G	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	2976	+			848					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Silent	SNP	ENST00000319715.4	37	c.2544A>G	CCDS10621.1																																																																																				0.418	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		15	67	0	0	0	1	0	15	67				
DHX32	55760	broad.mit.edu	37	10	127529492	127529492	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:127529492A>C	ENST00000284690.3	-	8	2107	c.1617T>G	c.(1615-1617)caT>caG	p.H539Q	DHX32_ENST00000284688.6_Missense_Mutation_p.H458Q|BCCIP_ENST00000368759.5_Intron|AL360176.1_ENST00000401153.1_RNA|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.H163Q|BCCIP_ENST00000429863.2_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	539						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTCCTTCGGGATGTAAAAATG	0.423																																						ENST00000284690.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29						c.(1615-1617)caT>caG		DEAH (Asp-Glu-Ala-His) box polypeptide 32							157.0	135.0	143.0					10																	127529492		2203	4300	6503	SO:0001583	missense	55760					mitochondrion|nucleus	ATP binding|helicase activity	g.chr10:127529492A>C		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1617T>G	10.37:g.127529492A>C	ENSP00000284690:p.His539Gln					BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.H163Q|DHX32_ENST00000284688.6_Missense_Mutation_p.H458Q|BCCIP_ENST00000429863.2_Intron	p.H539Q	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN			8	2107	-		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	539					A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	ENST00000284690.3	37	c.1617T>G	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.579248	0.65878	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.30182	1.54;1.54;1.54	4.75	-5.06	0.02946	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	L	0.59967	1.855	0.52501	D	0.99995	D	0.76494	0.999	D	0.70487	0.969	T	0.49960	-0.8883	10	0.87932	D	0	-32.9723	14.7114	0.69235	0.3575:0.0:0.6425:0.0	.	539	Q7L7V1	DHX32_HUMAN	Q	163;539;458	ENSP00000357710:H163Q;ENSP00000284690:H539Q;ENSP00000284688:H458Q	ENSP00000284688:H458Q	H	-	3	2	DHX32	127519482	0.992000	0.36948	0.509000	0.27700	0.886000	0.51366	0.184000	0.16939	-0.913000	0.03832	-0.274000	0.10170	CAT		0.423	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	NM_018180		4	145	0	0	0	1	0	4	145				
EDAR	10913	broad.mit.edu	37	2	109526938	109526938	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:109526938T>C	ENST00000258443.2	-	9	1211	c.781A>G	c.(781-783)Act>Gct	p.T261A	EDAR_ENST00000376651.1_Missense_Mutation_p.T293A|EDAR_ENST00000409271.1_Missense_Mutation_p.T293A	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	261					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TTTGCTGGAGTTGCTGTCAGC	0.557																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(877-879)Act>Gct		ectodysplasin A receptor							100.0	90.0	93.0					2																	109526938		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109526938T>C	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.781A>G	2.37:g.109526938T>C	ENSP00000258443:p.Thr261Ala					EDAR_ENST00000376651.1_Missense_Mutation_p.T293A|EDAR_ENST00000258443.2_Missense_Mutation_p.T261A	p.T293A			Q9UNE0	EDAR_HUMAN			9	1320	-			261					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.877A>G	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.821849	0.32237	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.90620	-2.7;-2.67;-2.7	5.08	-1.33	0.09172	.	0.431115	0.26627	N	0.023334	T	0.77765	0.4179	N	0.11201	0.11	0.39376	D	0.966163	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.59123	-0.7513	10	0.27785	T	0.31	-1.1602	11.1899	0.48679	0.0:0.1479:0.0:0.8521	.	293;261	E9PC98;Q9UNE0	.;EDAR_HUMAN	A	293;261;293	ENSP00000386371:T293A;ENSP00000258443:T261A;ENSP00000365839:T293A	ENSP00000258443:T261A	T	-	1	0	EDAR	108893370	0.614000	0.27017	0.071000	0.20095	0.884000	0.51177	0.709000	0.25734	-0.503000	0.06586	-0.441000	0.05720	ACT		0.557	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			7	33	0	0	0	1	0	7	33				
COL5A3	50509	broad.mit.edu	37	19	10079145	10079145	+	Silent	SNP	G	G	A	rs141650534		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10079145G>A	ENST00000264828.3	-	59	4315	c.4230C>T	c.(4228-4230)ctC>ctT	p.L1410L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1410	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.L1410L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGGGCCAATGAGACCGATCA	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		16950	0.001		0.0	False		,,,				2504	0.0					ENST00000264828.3																			1	Substitution - coding silent(1)	p.L1410L(1)	skin(1)	NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(4228-4230)ctC>ctT		collagen, type V, alpha 3							82.0	92.0	89.0					19																	10079145		2203	4300	6503	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10079145G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4230C>T	19.37:g.10079145G>A							p.L1410L	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		59	4315	-			1410			Triple-helical region.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.4230C>T	CCDS12222.1																																																																																				0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		66	158	0	0	0	1	0	66	158				
GRM4	2914	broad.mit.edu	37	6	34004192	34004192	+	Silent	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:34004192C>G	ENST00000538487.2	-	9	2138	c.1695G>C	c.(1693-1695)cgG>cgC	p.R565R	GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000455714.2_Silent_p.R425R|GRM4_ENST00000535756.1_Silent_p.R432R|GRM4_ENST00000374181.4_Silent_p.R565R|GRM4_ENST00000374177.3_Silent_p.R449R|GRM4_ENST00000609222.1_Silent_p.R432R|GRM4_ENST00000544773.2_Silent_p.R396R	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	565					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TCTCTGTGGGCCGCATGTCAT	0.647																																						ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1693-1695)cgG>cgC		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						59.0	51.0	54.0					6																	34004192		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34004192C>G	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1695G>C	6.37:g.34004192C>G						GRM4_ENST00000535756.1_Silent_p.R432R|GRM4_ENST00000545715.1_Silent_p.R257R|GRM4_ENST00000455714.2_Silent_p.R425R|GRM4_ENST00000538487.1_Silent_p.R565R|GRM4_ENST00000544773.1_Silent_p.R396R|GRM4_ENST00000374177.3_Silent_p.R449R	p.R565R	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			8	1864	-			565					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.1695G>C	CCDS4787.1																																																																																				0.647	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			19	39	0	0	0	1	0	19	39				
MBD3	53615	broad.mit.edu	37	19	1581142	1581142	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1581142T>C	ENST00000434436.3	-	5	755	c.626A>G	c.(625-627)aAc>aGc	p.N209S	MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000592012.1_Missense_Mutation_p.N177S|UQCR11_ENST00000585937.1_3'UTR|AC005943.4_ENST00000592406.1_RNA|MBD3_ENST00000156825.1_Missense_Mutation_p.N209S|MBD3_ENST00000590550.2_Missense_Mutation_p.N153S	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	209					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCGTGGTGTTGAGCCATAC	0.652																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(457-459)aAc>aGc		methyl-CpG binding domain protein 3							122.0	88.0	100.0					19																	1581142		2203	4300	6503	SO:0001583	missense	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1581142T>C	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.626A>G	19.37:g.1581142T>C	ENSP00000412302:p.Asn209Ser					MBD3_ENST00000592012.1_Missense_Mutation_p.N177S|MBD3_ENST00000434436.3_Missense_Mutation_p.N209S|MBD3_ENST00000156825.1_Missense_Mutation_p.N209S	p.N153S			O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	4	831	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	209					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	SNP	ENST00000434436.3	37	c.458A>G	CCDS12072.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390722	0.82902	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.98849	-5.18	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	M	0.84683	2.71	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.87578	0.987;0.998	D	0.99581	1.0973	10	0.72032	D	0.01	-63.2068	13.8281	0.63363	0.0:0.0:0.0:1.0	.	177;209	O95983-2;O95983	.;MBD3_HUMAN	S	177;209	ENSP00000156825:N209S	ENSP00000156825:N209S	N	-	2	0	MBD3	1532142	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.883000	0.87264	1.855000	0.53841	0.379000	0.24179	AAC		0.652	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		5	68	0	0	0	1	0	5	68				
ADAMTS19	171019	broad.mit.edu	37	5	128862006	128862006	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:128862006G>A	ENST00000274487.4	+	4	1070	c.925G>A	c.(925-927)Gca>Aca	p.A309T	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	309						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TAGAAAAATAGCAGAAAGTGG	0.348																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(925-927)Gca>Aca		ADAM metallopeptidase with thrombospondin type 1 motif, 19							71.0	67.0	68.0					5																	128862006		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128862006G>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.925G>A	5.37:g.128862006G>A	ENSP00000274487:p.Ala309Thr					CTC-575N7.1_ENST00000503616.1_RNA	p.A309T	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	4	1070	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	309						Missense_Mutation	SNP	ENST00000274487.4	37	c.925G>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	2.170	-0.390118	0.04932	.	.	ENSG00000145808	ENST00000274487	T	0.64085	-0.08	4.21	-5.23	0.02798	.	0.938409	0.08975	N	0.866716	T	0.30198	0.0757	N	0.08118	0	0.20403	N	0.999906	B	0.06786	0.001	B	0.06405	0.002	T	0.14448	-1.0472	9	.	.	.	.	2.6422	0.04974	0.3514:0.0893:0.0957:0.4636	.	309	Q8TE59	ATS19_HUMAN	T	309	ENSP00000274487:A309T	.	A	+	1	0	ADAMTS19	128889905	0.000000	0.05858	0.218000	0.23776	0.894000	0.52154	-0.771000	0.04699	-1.066000	0.03164	-1.120000	0.02017	GCA		0.348	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		13	46	0	0	0	1	0	13	46				
SIX6	4990	broad.mit.edu	37	14	60976367	60976367	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:60976367A>G	ENST00000327720.5	+	1	699	c.251A>G	c.(250-252)cAc>cGc	p.H84R		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	84					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		AAGGAGTCGCACGCCAAGCTG	0.582																																						ENST00000327720.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11						c.(250-252)cAc>cGc		SIX homeobox 6							44.0	44.0	44.0					14																	60976367		2203	4300	6503	SO:0001583	missense	4990				organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:60976367A>G	AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.251A>G	14.37:g.60976367A>G	ENSP00000328596:p.His84Arg						p.H84R	NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)	1	699	+			84					Q6NT42|Q9P1X8	Missense_Mutation	SNP	ENST00000327720.5	37	c.251A>G	CCDS9747.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.444688	0.63178	.	.	ENSG00000184302	ENST00000327720	D	0.97016	-4.21	5.52	5.52	0.82312	.	0.045098	0.85682	D	0.000000	D	0.97324	0.9125	H	0.95114	3.625	0.80722	D	1	P	0.44044	0.825	B	0.41813	0.367	D	0.98227	1.0481	10	0.87932	D	0	.	14.9764	0.71277	1.0:0.0:0.0:0.0	.	84	O95475	SIX6_HUMAN	R	84	ENSP00000328596:H84R	ENSP00000328596:H84R	H	+	2	0	SIX6	60046120	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.139000	0.94554	2.317000	0.78254	0.460000	0.39030	CAC		0.582	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2			5	55	0	0	0	1	0	5	55				
TIAM1	7074	broad.mit.edu	37	21	32585738	32585738	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:32585738A>G	ENST00000286827.3	-	11	2664	c.2193T>C	c.(2191-2193)ttT>ttC	p.F731F	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	731					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CAATGTCATCAAATATTCCCT	0.388																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(2191-2193)ttT>ttC		T-cell lymphoma invasion and metastasis 1							123.0	118.0	119.0					21																	32585738		2202	4300	6502	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32585738A>G		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2193T>C	21.37:g.32585738A>G						TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Intron	p.F731F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			11	2664	-			731					B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.2193T>C	CCDS13609.1																																																																																				0.388	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		13	72	0	0	0	1	0	13	72				
TMEM38A	79041	broad.mit.edu	37	19	16791318	16791318	+	Missense_Mutation	SNP	C	C	T	rs139650677	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:16791318C>T	ENST00000187762.2	+	3	483	c.392C>T	c.(391-393)gCg>gTg	p.A131V		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	131						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.A131V(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CGCAAGATCGCGGTGGGCATC	0.527																																						ENST00000187762.2																			1	Substitution - Missense(1)	p.A131V(1)	endometrium(1)	central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(391-393)gCg>gTg		transmembrane protein 38A		C	VAL/ALA	0,4406		0,0,2203	161.0	147.0	152.0		392	4.9	0.6	19	dbSNP_134	152	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TMEM38A	NM_024074.1	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	131/300	16791318	2,13004	2203	4300	6503	SO:0001583	missense	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16791318C>T	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.392C>T	19.37:g.16791318C>T	ENSP00000187762:p.Ala131Val						p.A131V	NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN			3	483	+			131					A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	c.392C>T	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	c	14.22	2.469808	0.43839	0.0	2.33E-4	ENSG00000072954	ENST00000187762	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.63534	0.2519	L	0.28192	0.835	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57323	-0.7831	9	0.16420	T	0.52	-26.9622	17.5463	0.87863	0.0:1.0:0.0:0.0	.	131	Q9H6F2	TM38A_HUMAN	V	131	.	ENSP00000187762:A131V	A	+	2	0	TMEM38A	16652318	1.000000	0.71417	0.639000	0.29394	0.813000	0.45954	7.684000	0.84104	2.459000	0.83118	0.561000	0.74099	GCG		0.527	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		81	218	0	0	0	1	0	81	218				
CCDC93	54520	broad.mit.edu	37	2	118698847	118698847	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:118698847A>G	ENST00000376300.2	-	19	1577	c.1440T>C	c.(1438-1440)atT>atC	p.I480I	CCDC93_ENST00000319432.5_Silent_p.I479I	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	480										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TGCGGTGCAAAATTGCTATTT	0.428																																						ENST00000376300.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(1438-1440)atT>atC		coiled-coil domain containing 93							140.0	129.0	133.0					2																	118698847		2203	4300	6503	SO:0001819	synonymous_variant	54520							g.chr2:118698847A>G	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1440T>C	2.37:g.118698847A>G						CCDC93_ENST00000319432.5_Silent_p.I479I	p.I480I	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN			19	1577	-			480					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Silent	SNP	ENST00000376300.2	37	c.1440T>C	CCDS2121.2																																																																																				0.428	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		16	70	0	0	0	1	0	16	70				
RBM44	375316	broad.mit.edu	37	2	238727040	238727040	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:238727040C>T	ENST00000409864.1	+	3	1735	c.1481C>T	c.(1480-1482)aCa>aTa	p.T494I	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Missense_Mutation_p.T494I			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	493						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GTAGTATCTACATCAAGCAAC	0.393																																						ENST00000316997.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1480-1482)aCa>aTa		RNA binding motif protein 44							85.0	79.0	81.0					2																	238727040		1908	4131	6039	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238727040C>T	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1481C>T	2.37:g.238727040C>T	ENSP00000386727:p.Thr494Ile					RBM44_ENST00000409864.1_Missense_Mutation_p.T494I|RBM44_ENST00000444524.2_Intron	p.T494I	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	1613	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	493					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.1481C>T	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215226	0.58452	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.26518	1.73;1.73	5.86	4.03	0.46877	.	0.560470	0.18251	N	0.146928	T	0.21761	0.0524	M	0.65975	2.015	0.18873	N	0.999985	P	0.40083	0.702	B	0.30495	0.116	T	0.24083	-1.0170	10	0.46703	T	0.11	-4.2758	7.2675	0.26237	0.0:0.6471:0.256:0.0968	.	493	Q6ZP01	RBM44_HUMAN	I	494	ENSP00000321179:T494I;ENSP00000386727:T494I	ENSP00000321179:T494I	T	+	2	0	RBM44	238391779	0.028000	0.19301	0.298000	0.25002	0.946000	0.59487	1.209000	0.32357	1.489000	0.48450	0.591000	0.81541	ACA		0.393	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		14	61	0	0	0	1	0	14	61				
CLUH	23277	broad.mit.edu	37	17	2605231	2605231	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:2605231A>T	ENST00000570628.2	-	4	587	c.482T>A	c.(481-483)gTc>gAc	p.V161D	CLUH_ENST00000538975.1_Missense_Mutation_p.V161D|CLUH_ENST00000435359.1_Missense_Mutation_p.V161D			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	161					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											GTCGGTGAAGACACTCAGGAA	0.672																																						ENST00000570628.1																			0											c.(481-483)gTc>gAc		clustered mitochondria (cluA/CLU1) homolog							62.0	68.0	66.0					17																	2605231		2074	4179	6253	SO:0001583	missense	23277							g.chr17:2605231A>T	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.482T>A	17.37:g.2605231A>T	ENSP00000458986:p.Val161Asp					CLUH_ENST00000435359.1_Missense_Mutation_p.V161D|CLUH_ENST00000538975.1_Missense_Mutation_p.V161D|CLUH_ENST00000575014.1_Missense_Mutation_p.V93D	p.V161D							4	587	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.482T>A	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	a	14.07	2.426104	0.43020	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.81415	-1.49;-1.49	5.1	5.1	0.69264	.	0.126864	0.53938	D	0.000057	T	0.73187	0.3555	L	0.35723	1.085	0.80722	D	1	P;P	0.37330	0.59;0.59	B;B	0.36335	0.222;0.222	T	0.75575	-0.3270	10	0.52906	T	0.07	.	14.0646	0.64821	1.0:0.0:0.0:0.0	.	161;161	O75153;C9J6D7	K0664_HUMAN;.	D	161	ENSP00000388872:V161D;ENSP00000439628:V161D	ENSP00000320468:V161D	V	-	2	0	KIAA0664	2551981	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	7.139000	0.77314	1.929000	0.55896	0.478000	0.44815	GTC		0.672	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		18	59	0	0	0	1	0	18	59				
LMNB2	84823	broad.mit.edu	37	19	2438423	2438423	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:2438423T>C	ENST00000582871.1	-	3	534	c.448A>G	c.(448-450)Aag>Gag	p.K150E	LMNB2_ENST00000325327.3_Missense_Mutation_p.K170E	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	150	Coil 1B.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCCGCGCTTGTCGCTGAGG	0.672																																						ENST00000325327.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(508-510)Aag>Gag		lamin B2							30.0	27.0	28.0					19																	2438423		2200	4298	6498	SO:0001583	missense	84823					nuclear inner membrane	structural molecule activity	g.chr19:2438423T>C	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.448A>G	19.37:g.2438423T>C	ENSP00000462730:p.Lys150Glu					LMNB2_ENST00000582871.1_Missense_Mutation_p.K150E	p.K170E			Q03252	LMNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	570	-		Hepatocellular(1079;0.137)	150			Coil 1B.|Rod.		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37	c.508A>G		.	.	.	.	.	.	.	.	.	.	T	23.6	4.437615	0.83885	.	.	ENSG00000176619	ENST00000325327	D	0.82803	-1.65	4.38	4.38	0.52667	Filament (1);	0.101623	0.64402	D	0.000003	D	0.89312	0.6679	M	0.82193	2.58	0.58432	D	0.99999	D	0.57571	0.98	P	0.58266	0.836	D	0.90663	0.4592	10	0.72032	D	0.01	.	12.433	0.55584	0.0:0.0:0.0:1.0	.	150	Q03252	LMNB2_HUMAN	E	150	ENSP00000327054:K150E	ENSP00000327054:K150E	K	-	1	0	LMNB2	2389423	1.000000	0.71417	0.971000	0.41717	0.756000	0.42949	6.222000	0.72249	1.615000	0.50252	0.459000	0.35465	AAG		0.672	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		16	27	0	0	0	1	0	16	27				
GPCPD1	56261	broad.mit.edu	37	20	5528364	5528364	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:5528364A>G	ENST00000379019.4	-	20	2174	c.1962T>C	c.(1960-1962)tgT>tgC	p.C654C	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	654					glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						CAGACTCCCCACACAAAGATG	0.483																																						ENST00000379019.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						c.(1960-1962)tgT>tgC		glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)							171.0	154.0	160.0					20																	5528364		2203	4300	6503	SO:0001819	synonymous_variant	56261				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	g.chr20:5528364A>G		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.1962T>C	20.37:g.5528364A>G						GPCPD1_ENST00000481038.1_5'UTR	p.C654C	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN			20	2174	-			654					D3DW06|Q9BQL8|Q9NUX0	Silent	SNP	ENST00000379019.4	37	c.1962T>C	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	a	3.916	-0.019101	0.07634	.	.	ENSG00000125772	ENST00000418646	.	.	.	5.43	0.741	0.18336	.	.	.	.	.	T	0.55784	0.1942	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47302	-0.9128	4	.	.	.	-16.9088	9.0024	0.36090	0.6251:0.0:0.3749:0.0	.	.	.	.	R	246	.	.	W	-	1	0	GPCPD1	5476364	0.996000	0.38824	0.998000	0.56505	0.654000	0.38779	0.417000	0.21214	0.063000	0.16370	0.528000	0.53228	TGG		0.483	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		58	144	0	0	0	1	0	58	144				
RTN4	57142	broad.mit.edu	37	2	55254564	55254564	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:55254564A>G	ENST00000337526.6	-	3	914	c.671T>C	c.(670-672)tTc>tCc	p.F224S	RTN4_ENST00000405240.1_Missense_Mutation_p.F18S|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.F18S|RTN4_ENST00000357376.3_Missense_Mutation_p.F18S|RTN4_ENST00000404909.1_Missense_Mutation_p.F18S	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	224					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GACAGATGGGAAATCCTCTTG	0.443																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(670-672)tTc>tCc		reticulon 4							86.0	79.0	82.0					2																	55254564		2203	4300	6503	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55254564A>G	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.671T>C	2.37:g.55254564A>G	ENSP00000337838:p.Phe224Ser					RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.F18S|RTN4_ENST00000405240.1_Missense_Mutation_p.F18S|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.F18S|RTN4_ENST00000357376.3_Missense_Mutation_p.F18S|RTN4_ENST00000354474.6_Intron	p.F224S	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	914	-			224					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.671T>C	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823561	0.71143	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000427710	T;T;T;T;T	0.24908	1.83;1.83;2.41;1.83;1.83	6.02	6.02	0.97574	.	0.262553	0.33346	N	0.005012	T	0.47838	0.1467	M	0.70275	2.135	0.80722	D	1	D	0.71674	0.998	P	0.59115	0.852	T	0.49390	-0.8945	10	0.87932	D	0	-11.945	16.5494	0.84464	1.0:0.0:0.0:0.0	.	224	Q9NQC3	RTN4_HUMAN	S	18;18;224;18;18;18	ENSP00000384471:F18S;ENSP00000349944:F18S;ENSP00000337838:F224S;ENSP00000378109:F18S;ENSP00000385650:F18S	ENSP00000337838:F224S	F	-	2	0	RTN4	55108068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.125000	0.71627	2.299000	0.77371	0.528000	0.53228	TTC		0.443	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			16	59	0	0	0	1	0	16	59				
SYN3	8224	broad.mit.edu	37	22	32914204	32914204	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:32914204T>C	ENST00000358763.2	-	13	1678	c.1436A>G	c.(1435-1437)cAa>cGa	p.Q479R	SYN3_ENST00000467095.1_5'UTR|SYN3_ENST00000332840.5_Missense_Mutation_p.Q479R	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	479	J; Pro-rich linker.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGGTGACCTTTGCTGCTGTGG	0.672																																						ENST00000358763.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(1435-1437)cAa>cGa		synapsin III							74.0	81.0	79.0					22																	32914204		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:32914204T>C	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1436A>G	22.37:g.32914204T>C	ENSP00000351614:p.Gln479Arg					SYN3_ENST00000467095.1_5'UTR|SYN3_ENST00000332840.5_Missense_Mutation_p.Q479R	p.Q479R	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN			13	1678	-			479			J; Pro-rich linker.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.1436A>G	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	T	15.42	2.827248	0.50739	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000445154	T;T	0.33438	1.41;1.41	5.48	4.43	0.53597	.	0.301984	0.32301	N	0.006291	T	0.29945	0.0749	L	0.56769	1.78	0.39160	D	0.962381	B;B	0.31153	0.31;0.31	B;B	0.28553	0.091;0.091	T	0.08432	-1.0722	10	0.39692	T	0.17	-0.4019	12.5135	0.56019	0.0:0.0:0.1398:0.8602	.	478;479	Q17R54;O14994	.;SYN3_HUMAN	R	479;479;85	ENSP00000351614:Q479R;ENSP00000330219:Q479R	ENSP00000330219:Q479R	Q	-	2	0	SYN3	31244204	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.336000	0.52113	0.881000	0.35993	0.533000	0.62120	CAA		0.672	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			51	141	0	0	0	1	0	51	141				
CYP19A1	1588	broad.mit.edu	37	15	51503019	51503019	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:51503019A>G	ENST00000396402.1	-	10	1651	c.1498T>C	c.(1498-1500)Tgt>Cgt	p.C500R	CYP19A1_ENST00000260433.2_Missense_Mutation_p.C500R|CYP19A1_ENST00000396404.4_Missense_Mutation_p.C500R|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.C500R	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	500					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	TGTTCCAGACACCTGTCTGAG	0.448																																					Melanoma(142;1016 1807 39614 48966 51721)	ENST00000396402.1																			0				endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(1498-1500)Tgt>Cgt		cytochrome P450, family 19, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						228.0	219.0	222.0					15																	51503019		2196	4293	6489	SO:0001583	missense	1588				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51503019A>G	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.1498T>C	15.37:g.51503019A>G	ENSP00000379683:p.Cys500Arg					CYP19A1_ENST00000396404.4_Missense_Mutation_p.C500R|CYP19A1_ENST00000559878.1_Missense_Mutation_p.C500R|CYP19A1_ENST00000260433.2_Missense_Mutation_p.C500R|RP11-108K3.1_ENST00000559909.1_lincRNA	p.C500R	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	10	1651	-			500					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.1498T>C	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260024	0.23051	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404	T;T;T	0.70045	-0.45;-0.45;-0.45	4.93	4.93	0.64822	.	0.692542	0.14760	N	0.300072	T	0.52677	0.1749	L	0.36672	1.1	0.19575	N	0.999965	B	0.29862	0.259	B	0.20955	0.032	T	0.48031	-0.9070	10	0.49607	T	0.09	-0.4721	8.3132	0.32084	0.8115:0.0:0.0:0.1885	.	500	P11511	CP19A_HUMAN	R	500	ENSP00000379683:C500R;ENSP00000260433:C500R;ENSP00000379685:C500R	ENSP00000260433:C500R	C	-	1	0	CYP19A1	49290311	0.011000	0.17503	0.019000	0.16419	0.013000	0.08279	0.472000	0.22116	2.201000	0.70794	0.533000	0.62120	TGT		0.448	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			35	160	0	0	0	1	0	35	160				
BAG3	9531	broad.mit.edu	37	10	121436443	121436443	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:121436443C>T	ENST00000369085.3	+	4	1683	c.1377C>T	c.(1375-1377)acC>acT	p.T459T		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	459	BAG. {ECO:0000255|PROSITE- ProRule:PRU00369}.				brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AGTATTTGACCAAAGAGCTGC	0.532																																						ENST00000369085.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1375-1377)acC>acT		BCL2-associated athanogene 3							54.0	60.0	58.0					10																	121436443		2203	4300	6503	SO:0001819	synonymous_variant	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121436443C>T	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.1377C>T	10.37:g.121436443C>T							p.T459T	NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	4	1683	+		Lung NSC(174;0.109)|all_lung(145;0.142)	459			BAG.		A8K5L8|Q3B763|Q9NT20|Q9P120	Silent	SNP	ENST00000369085.3	37	c.1377C>T	CCDS7615.1																																																																																				0.532	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		18	67	0	0	0	1	0	18	67				
WIPF1	7456	broad.mit.edu	37	2	175436854	175436854	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:175436854C>T	ENST00000392547.2	-	5	778	c.679G>A	c.(679-681)Ggc>Agc	p.G227S	WIPF1_ENST00000272746.5_Missense_Mutation_p.G227S|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.G227S|WIPF1_ENST00000392546.2_Missense_Mutation_p.G227S|WIPF1_ENST00000409415.3_Missense_Mutation_p.G227S|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000359761.3_Missense_Mutation_p.G227S	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	227					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						AAAGCAGTGCCGCGGTTTCCA	0.682																																						ENST00000392547.2																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(679-681)Ggc>Agc		WAS/WASL interacting protein family, member 1							22.0	28.0	26.0					2																	175436854		2196	4295	6491	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175436854C>T	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.679G>A	2.37:g.175436854C>T	ENSP00000376330:p.Gly227Ser					AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.G227S|WIPF1_ENST00000272746.5_Missense_Mutation_p.G227S|WIPF1_ENST00000409415.3_Missense_Mutation_p.G227S|WIPF1_ENST00000359761.3_Missense_Mutation_p.G227S|WIPF1_ENST00000392546.2_Missense_Mutation_p.G227S|AC018890.6_ENST00000412835.1_RNA	p.G227S	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN			5	778	-			227					B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.679G>A	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.759656	0.00657	.	.	ENSG00000115935	ENST00000392547;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415	T;T;T;T;T;T	0.44083	1.49;1.49;1.49;1.49;0.93;0.96	4.53	3.5	0.40072	.	0.475943	0.21973	N	0.066425	T	0.21062	0.0507	N	0.19112	0.55	0.09310	N	0.999999	B;B;B;B	0.14438	0.009;0.01;0.009;0.003	B;B;B;B	0.08055	0.003;0.002;0.003;0.002	T	0.08700	-1.0709	10	0.16420	T	0.52	.	3.8256	0.08853	0.2117:0.5622:0.0:0.2261	.	227;227;227;227	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	S	227	ENSP00000376330:G227S;ENSP00000272746:G227S;ENSP00000352802:G227S;ENSP00000376329:G227S;ENSP00000386431:G227S;ENSP00000387150:G227S	ENSP00000272746:G227S	G	-	1	0	WIPF1	175145100	0.210000	0.23517	0.997000	0.53966	0.032000	0.12392	1.802000	0.38853	2.062000	0.61559	0.511000	0.50034	GGC		0.682	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		20	55	0	0	0	1	0	20	55				
LLGL2	3993	broad.mit.edu	37	17	73564757	73564757	+	Missense_Mutation	SNP	G	G	A	rs200648094		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:73564757G>A	ENST00000392550.3	+	11	1354	c.1237G>A	c.(1237-1239)Gca>Aca	p.A413T	LLGL2_ENST00000167462.5_Missense_Mutation_p.A413T|LLGL2_ENST00000577200.1_Missense_Mutation_p.A413T	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	413					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCGGCAGAACGCACACTTCTC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		16902	0.001		0.0	False		,,,				2504	0.0					ENST00000392550.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1237-1239)Gca>Aca		lethal giant larvae homolog 2 (Drosophila)							47.0	47.0	47.0					17																	73564757		2203	4300	6503	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73564757G>A	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1237G>A	17.37:g.73564757G>A	ENSP00000376333:p.Ala413Thr					LLGL2_ENST00000577200.1_Missense_Mutation_p.A413T|LLGL2_ENST00000167462.5_Missense_Mutation_p.A413T	p.A413T	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		11	1354	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		413					Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.1237G>A	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	3.240	-0.155633	0.06544	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.10763	2.84;2.84	5.26	-0.311	0.12761	WD40 repeat-like-containing domain (1);	0.493028	0.22740	N	0.056213	T	0.02230	0.0069	N	0.00996	-1.065	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.0	T	0.44436	-0.9328	10	0.08599	T	0.76	5.2031	4.5389	0.12047	0.5101:0.0:0.225:0.2649	.	40;402;402;413;413	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	T	413;413;402	ENSP00000167462:A413T;ENSP00000376333:A413T	ENSP00000167462:A413T	A	+	1	0	LLGL2	71076352	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.249000	0.08842	0.068000	0.16574	0.511000	0.50034	GCA		0.612	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		20	58	0	0	0	1	0	20	58				
PSKH2	85481	broad.mit.edu	37	8	87076207	87076207	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:87076207T>A	ENST00000276616.2	-	2	913	c.839A>T	c.(838-840)aAt>aTt	p.N280I	PSKH2_ENST00000517981.1_5'Flank	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TCCTGTATAATTATATTTGCC	0.388																																						ENST00000276616.2																			0				NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47						c.(838-840)aAt>aTt		protein serine kinase H2							58.0	61.0	60.0					8																	87076207		2203	4300	6503	SO:0001583	missense	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87076207T>A	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.839A>T	8.37:g.87076207T>A	ENSP00000276616:p.Asn280Ile						p.N280I	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		2	913	-			280			Protein kinase.		A0AV22	Missense_Mutation	SNP	ENST00000276616.2	37	c.839A>T	CCDS6240.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.800479	0.31869	.	.	ENSG00000147613	ENST00000276616	T	0.65732	-0.17	4.98	-0.424	0.12321	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.43743	0.1261	N	0.21508	0.67	0.27971	N	0.936406	B	0.21821	0.061	B	0.25759	0.063	T	0.40664	-0.9551	9	0.87932	D	0	.	4.6139	0.12417	0.0:0.4607:0.2049:0.3344	.	280	Q96QS6	KPSH2_HUMAN	I	280	ENSP00000276616:N280I	ENSP00000276616:N280I	N	-	2	0	PSKH2	87145323	1.000000	0.71417	0.285000	0.24819	0.873000	0.50193	2.360000	0.44151	-0.046000	0.13446	-0.250000	0.11733	AAT		0.388	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126		9	51	0	0	0	1	0	9	51				
IZUMO1	284359	broad.mit.edu	37	19	49245563	49245563	+	Missense_Mutation	SNP	C	C	T	rs140133186		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:49245563C>T	ENST00000332955.2	-	7	1050	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	RASIP1_ENST00000222145.4_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	168	Ig-like C2-type.				cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTCCACATTCCGCTCTGGGGG	0.493																																						ENST00000332955.2																			0				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(502-504)cGg>cAg		izumo sperm-egg fusion 1		C	GLN/ARG	0,4406		0,0,2203	120.0	112.0	114.0		503	-1.2	0.1	19	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	no	missense	IZUMO1	NM_182575.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	168/351	49245563	1,13005	2203	4300	6503	SO:0001583	missense	284359				fusion of sperm to egg plasma membrane	integral to membrane		g.chr19:49245563C>T	BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"""-"""	28539	protein-coding gene	gene with protein product	"""oocyte binding/fusion factor"""	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.503G>A	19.37:g.49245563C>T	ENSP00000327786:p.Arg168Gln						p.R168Q	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	7	1050	-		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)	168			Ig-like C2-type.		Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	c.503G>A	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914842	0.33815	0.0	1.16E-4	ENSG00000182264	ENST00000332955	T	0.22743	1.94	4.67	-1.21	0.09524	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.451502	0.21099	N	0.080189	T	0.10121	0.0248	L	0.32530	0.975	0.18873	N	0.999989	B	0.34181	0.44	B	0.25405	0.06	T	0.14783	-1.0460	10	0.45353	T	0.12	-15.0393	3.5396	0.07806	0.1714:0.4466:0.0:0.382	.	168	Q8IYV9	IZUM1_HUMAN	Q	168	ENSP00000327786:R168Q	ENSP00000327786:R168Q	R	-	2	0	IZUMO1	53937375	0.410000	0.25376	0.107000	0.21349	0.016000	0.09150	0.395000	0.20850	0.032000	0.15435	0.561000	0.74099	CGG		0.493	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575		26	75	0	0	0	1	0	26	75				
FARP1	10160	broad.mit.edu	37	13	99047624	99047624	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:99047624T>C	ENST00000319562.6	+	13	1573	c.1308T>C	c.(1306-1308)ggT>ggC	p.G436G	FARP1_ENST00000376586.2_Silent_p.G436G|FARP1_ENST00000595437.1_Silent_p.G436G	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	436					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GCCCCGCGGGTAACAAGCAGG	0.692																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(1306-1308)ggT>ggC		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							17.0	23.0	21.0					13																	99047624		2165	4244	6409	SO:0001819	synonymous_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99047624T>C	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1308T>C	13.37:g.99047624T>C						FARP1_ENST00000319562.6_Silent_p.G436G|FARP1_ENST00000595437.1_Silent_p.G436G	p.G436G			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		13	1644	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		436					Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	c.1308T>C	CCDS9487.1																																																																																				0.692	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		24	66	0	0	0	1	0	24	66				
RELN	5649	broad.mit.edu	37	7	103175892	103175892	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:103175892C>A	ENST00000428762.1	-	46	7379	c.7220G>T	c.(7219-7221)tGg>tTg	p.W2407L	RELN_ENST00000343529.5_Missense_Mutation_p.W2407L|RELN_ENST00000424685.2_Missense_Mutation_p.W2407L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2407					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAATGGGTGCCATGACAATCC	0.428																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(7219-7221)tGg>tTg		reelin							151.0	124.0	133.0					7																	103175892		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103175892C>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7220G>T	7.37:g.103175892C>A	ENSP00000392423:p.Trp2407Leu					RELN_ENST00000343529.5_Missense_Mutation_p.W2407L|RELN_ENST00000428762.1_Missense_Mutation_p.W2407L	p.W2407L			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	46	7379	-			2407					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.7220G>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854579	0.91355	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.64085	-0.08;-0.08;-0.08	5.57	5.57	0.84162	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.82070	0.4957	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.83812	0.0242	10	0.87932	D	0	.	19.9029	0.96995	0.0:1.0:0.0:0.0	.	2407;2407	P78509-2;P78509	.;RELN_HUMAN	L	2407	ENSP00000392423:W2407L;ENSP00000345694:W2407L;ENSP00000388446:W2407L	ENSP00000345694:W2407L	W	-	2	0	RELN	102963128	1.000000	0.71417	0.999000	0.59377	0.852000	0.48524	7.367000	0.79558	2.780000	0.95670	0.655000	0.94253	TGG		0.428	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		16	66	1	0	6.94344e-10	1	7.18556e-10	16	66				
OR52N5	390075	broad.mit.edu	37	11	5799574	5799574	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:5799574A>G	ENST00000317093.2	-	1	323	c.291T>C	c.(289-291)agT>agC	p.S97S	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TTTCTTTGAGACTGAACCAGA	0.473																																						ENST00000317093.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33						c.(289-291)agT>agC		olfactory receptor, family 52, subfamily N, member 5							96.0	91.0	93.0					11																	5799574		2119	4089	6208	SO:0001819	synonymous_variant	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799574A>G	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.291T>C	11.37:g.5799574A>G						TRIM5_ENST00000380027.1_Intron	p.S97S	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	323	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	97					B9EH12|Q6IFG2	Silent	SNP	ENST00000317093.2	37	c.291T>C	CCDS31397.1																																																																																				0.473	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		17	82	0	0	0	1	0	17	82				
USP17L2	377630	broad.mit.edu	37	8	11996053	11996053	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:11996053T>C	ENST00000333796.3	-	1	533	c.217A>G	c.(217-219)Agg>Ggg	p.R73G	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	73					apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCAGGTCTCCTGCTACTCAGA	0.572																																						ENST00000333796.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(217-219)Agg>Ggg		ubiquitin specific peptidase 17-like family member 2							32.0	42.0	39.0					8																	11996053		1153	2632	3785	SO:0001583	missense	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11996053T>C	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.217A>G	8.37:g.11996053T>C	ENSP00000333329:p.Arg73Gly					FAM66D_ENST00000434078.2_RNA	p.R73G	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN			1	533	-			73						Missense_Mutation	SNP	ENST00000333796.3	37	c.217A>G	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	t	7.100	0.573810	0.13623	.	.	ENSG00000223443	ENST00000333796	T	0.13089	2.62	0.36	-0.721	0.11189	.	1.678470	0.03696	N	0.247892	T	0.07999	0.0200	N	0.14661	0.345	0.22479	N	0.999062	B	0.30634	0.288	B	0.24269	0.052	T	0.28299	-1.0048	10	0.72032	D	0.01	.	4.2632	0.10750	0.0:0.0:0.3433:0.6567	.	73	Q6R6M4	U17L2_HUMAN	G	73	ENSP00000333329:R73G	ENSP00000333329:R73G	R	-	1	2	USP17L2	12033462	0.770000	0.28543	0.001000	0.08648	0.001000	0.01503	2.110000	0.41873	-0.661000	0.05345	-0.710000	0.03640	AGG		0.572	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		13	78	0	0	0	1	0	13	78				
PLEK2	26499	broad.mit.edu	37	14	67857432	67857432	+	Missense_Mutation	SNP	C	C	T	rs192530373		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:67857432C>T	ENST00000216446.4	-	7	943	c.803G>A	c.(802-804)cGc>cAc	p.R268H		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	268	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		TAGAACAAAGCGACGCACCTT	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		21706	0.0		0.001	False		,,,				2504	0.0					ENST00000216446.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15						c.(802-804)cGc>cAc		pleckstrin 2		C	HIS/ARG	0,4406		0,0,2203	211.0	184.0	194.0		803	5.8	1.0	14		194	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PLEK2	NM_016445.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	268/354	67857432	1,13005	2203	4300	6503	SO:0001583	missense	26499				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane		g.chr14:67857432C>T	AF228603	CCDS9782.1	14q23.3	2014-08-12			ENSG00000100558	ENSG00000100558		"""Pleckstrin homology (PH) domain containing"""	19238	protein-coding gene	gene with protein product		608007				11911883, 17658464	Standard	NM_016445		Approved		uc001xjh.1	Q9NYT0	OTTHUMG00000171247	ENST00000216446.4:c.803G>A	14.37:g.67857432C>T	ENSP00000216446:p.Arg268His						p.R268H	NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN		all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	7	943	-			268			PH 2.		Q96JT0	Missense_Mutation	SNP	ENST00000216446.4	37	c.803G>A	CCDS9782.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	15.77	2.932675	0.52866	0.0	1.16E-4	ENSG00000100558	ENST00000216446;ENST00000554395	T;T	0.74947	-0.89;1.58	5.78	5.78	0.91487	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.133971	0.52532	D	0.000079	T	0.53367	0.1792	N	0.08118	0	0.38891	D	0.957111	B	0.12013	0.005	B	0.09377	0.004	T	0.54077	-0.8347	10	0.49607	T	0.09	-0.8603	8.9673	0.35885	0.0:0.8762:0.0:0.1238	.	268	Q9NYT0	PLEK2_HUMAN	H	268;168	ENSP00000216446:R268H;ENSP00000450892:R168H	ENSP00000216446:R268H	R	-	2	0	PLEK2	66927185	1.000000	0.71417	0.999000	0.59377	0.831000	0.47069	2.778000	0.47726	2.724000	0.93272	0.555000	0.69702	CGC		0.498	PLEK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412547.2			25	136	0	0	0	1	0	25	136				
MLLT4	4301	broad.mit.edu	37	6	168366483	168366483	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:168366483G>A	ENST00000447894.2	+	31	4994	c.4994G>A	c.(4993-4995)cGc>cAc	p.R1665H	MLLT4_ENST00000351017.4_Missense_Mutation_p.R1672H|MLLT4_ENST00000366806.2_Missense_Mutation_p.R1665H|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1675H|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1648H			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1665					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GCCGAGAGGCGCAGACAGCAC	0.677			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4993-4995)cGc>cAc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							5.0	7.0	6.0					6																	168366483		1800	3980	5780	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168366483G>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4994G>A	6.37:g.168366483G>A	ENSP00000404595:p.Arg1665His					MLLT4_ENST00000351017.4_Missense_Mutation_p.R1672H|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1648H|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1675H|MLLT4_ENST00000447894.2_Missense_Mutation_p.R1665H	p.R1665H			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	32	5136	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1665					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.4994G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.845914|4.845914	0.91277|0.91277	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000507704|ENST00000351017;ENST00000366806;ENST00000392112;ENST00000400822;ENST00000447894	.|T;T;T;T;T	.|0.56103	.|0.54;0.54;0.54;0.48;0.54	5.03|5.03	4.15|4.15	0.48705|0.48705	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64713|0.64713	0.2623|0.2623	M|M	0.73962|0.73962	2.25|2.25	0.51233|0.51233	D|D	0.999916|0.999916	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.71431|0.71431	-0.4595|-0.4595	5|10	.|0.72032	.|D	.|0.01	-3.6287|-3.6287	14.7631|14.7631	0.69619|0.69619	0.0:0.0:0.8542:0.1458|0.0:0.0:0.8542:0.1458	.|.	.|1675	.|P55196-5	.|.	T|H	154|1672;1665;1648;1675;1665	.|ENSP00000252692:R1672H;ENSP00000355771:R1665H;ENSP00000375960:R1648H;ENSP00000383623:R1675H;ENSP00000404595:R1665H	.|ENSP00000252692:R1672H	A|R	+|+	1|2	0|0	MLLT4|MLLT4	168109332|168109332	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.116000|7.116000	0.77119|0.77119	1.110000|1.110000	0.41699|0.41699	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.677	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		4	6	0	0	0	1	0	4	6				
BSN	8927	broad.mit.edu	37	3	49694495	49694495	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:49694495G>C	ENST00000296452.4	+	5	7620	c.7506G>C	c.(7504-7506)tgG>tgC	p.W2502C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2502					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCAGTATTGGCCCCCCCTTA	0.647																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(7504-7506)tgG>tgC		bassoon presynaptic cytomatrix protein							33.0	35.0	34.0					3																	49694495		2202	4298	6500	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49694495G>C	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7506G>C	3.37:g.49694495G>C	ENSP00000296452:p.Trp2502Cys						p.W2502C	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	7620	+			2502					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.7506G>C	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	6.709	0.499507	0.12762	.	.	ENSG00000164061	ENST00000296452	T	0.23147	1.92	5.58	5.58	0.84498	.	0.254317	0.39146	N	0.001449	T	0.48333	0.1494	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.43376	-0.9395	10	0.87932	D	0	-11.9058	19.1779	0.93611	0.0:0.0:1.0:0.0	.	2502	Q9UPA5	BSN_HUMAN	C	2502	ENSP00000296452:W2502C	ENSP00000296452:W2502C	W	+	3	0	BSN	49669499	1.000000	0.71417	1.000000	0.80357	0.482000	0.33219	9.547000	0.98100	2.640000	0.89533	0.561000	0.74099	TGG		0.647	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		27	68	0	0	0	1	0	27	68				
CORIN	10699	broad.mit.edu	37	4	47765562	47765562	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:47765562G>A	ENST00000273857.4	-	4	450	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	CORIN_ENST00000504584.1_Missense_Mutation_p.P151S|CORIN_ENST00000502252.1_Missense_Mutation_p.P84S|CORIN_ENST00000508498.1_Missense_Mutation_p.P12S|CORIN_ENST00000505909.1_Missense_Mutation_p.P151S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	151	FZ 1. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GCGTGGTAGGGCAGCATCTGA	0.458																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(451-453)Ccc>Tcc		corin, serine peptidase							137.0	130.0	133.0					4																	47765562		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47765562G>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.451C>T	4.37:g.47765562G>A	ENSP00000273857:p.Pro151Ser					CORIN_ENST00000504584.1_Missense_Mutation_p.P151S|CORIN_ENST00000502252.1_Missense_Mutation_p.P84S|CORIN_ENST00000508498.1_Missense_Mutation_p.P12S|CORIN_ENST00000505909.1_Missense_Mutation_p.P151S	p.P151S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			4	450	-			151			FZ 1.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.451C>T	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350567	0.61183	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	4.99	4.99	0.66335	Frizzled domain (5);	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	M	0.79805	2.47	0.50467	D	0.999879	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0	T	0.79286	-0.1866	10	0.87932	D	0	.	18.6514	0.91431	0.0:0.0:1.0:0.0	.	151;151;84;12;151	B7Z4R1;B4E2W9;B4E1Y7;B4DZA3;Q9Y5Q5	.;.;.;.;CORIN_HUMAN	S	151;12;84;151;151	ENSP00000273857:P151S;ENSP00000425597:P12S;ENSP00000424212:P84S;ENSP00000425401:P151S;ENSP00000423216:P151S	ENSP00000273857:P151S	P	-	1	0	CORIN	47460319	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	7.786000	0.85741	2.480000	0.83734	0.591000	0.81541	CCC		0.458	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			19	94	0	0	0	1	0	19	94				
FMN2	56776	broad.mit.edu	37	1	240370980	240370980	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:240370980G>A	ENST00000319653.9	+	5	3098	c.2868G>A	c.(2866-2868)ccG>ccA	p.P956P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	956	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1099P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCCCTCCGCCCCCTCTTC	0.697																																						ENST00000319653.9																			1	Substitution - coding silent(1)	p.P1099P(1)	lung(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2866-2868)ccG>ccA		formin 2							20.0	24.0	23.0					1																	240370980		2203	4296	6499	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370980G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2868G>A	1.37:g.240370980G>A							p.P956P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3098	+	Ovarian(103;0.127)	all_cancers(173;0.013)	956			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.2868G>A	CCDS31069.2																																																																																				0.697	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		9	66	0	0	0	1	0	9	66				
GALNT7	51809	broad.mit.edu	37	4	174235233	174235233	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:174235233A>T	ENST00000265000.4	+	9	1597	c.1514A>T	c.(1513-1515)cAc>cTc	p.H505L		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	505					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CGAGAAGATCACAACTGCAAA	0.403																																						ENST00000265000.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19						c.(1513-1515)cAc>cTc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)							106.0	106.0	106.0					4																	174235233		2203	4300	6503	SO:0001583	missense	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174235233A>T	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1514A>T	4.37:g.174235233A>T	ENSP00000265000:p.His505Leu						p.H505L	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	9	1597	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	505					B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	c.1514A>T	CCDS3815.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.65|15.65	2.896892|2.896892	0.52121|0.52121	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000265000|ENST00000505308	T|.	0.59772|.	0.24|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.28167|0.28167	0.0695|0.0695	N|N	0.01257|0.01257	-0.925|-0.925	0.80722|0.80722	D|D	1|1	B|.	0.26672|.	0.156|.	B|.	0.23018|.	0.043|.	T|T	0.34030|0.34030	-0.9845|-0.9845	10|5	0.02654|.	T|.	1|.	.|.	15.7776|15.7776	0.78236|0.78236	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	505|.	Q86SF2|.	GALT7_HUMAN|.	L|S	505|302	ENSP00000265000:H505L|.	ENSP00000265000:H505L|.	H|T	+|+	2|1	0|0	GALNT7|GALNT7	174471808|174471808	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.511000|7.511000	0.81718|0.81718	2.129000|2.129000	0.65627|0.65627	0.533000|0.533000	0.62120|0.62120	CAC|ACA		0.403	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		36	97	0	0	0	1	0	36	97				
TRIM34	53840	broad.mit.edu	37	11	5655876	5655876	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:5655876G>A	ENST00000514226.1	+	4	872	c.535G>A	c.(535-537)Gag>Aag	p.E179K	TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.E179K|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Missense_Mutation_p.E179K|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.E533K	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	179					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTACAAACTGAGAGACAAAG	0.413																																						ENST00000354852.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33						c.(1597-1599)Gag>Aag									53.0	50.0	51.0					11																	5655876		2201	4297	6498	SO:0001583	missense	445372					intracellular	zinc ion binding	g.chr11:5655876G>A	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.535G>A	11.37:g.5655876G>A	ENSP00000422947:p.Glu179Lys					TRIM34_ENST00000429814.2_Missense_Mutation_p.E179K|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.E179K|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000514226.1_Missense_Mutation_p.E179K	p.E533K	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	10	1770	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	533					D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	c.1597G>A	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	G	32	5.105155	0.94245	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.04234	3.67;3.67;3.67;3.67	3.78	3.78	0.43462	.	2.565130	0.02169	N	0.059480	T	0.12817	0.0311	M	0.80982	2.52	0.24273	N	0.995233	B;B;B	0.33212	0.402;0.07;0.244	B;B;B	0.35353	0.201;0.08;0.201	T	0.43766	-0.9371	10	0.36615	T	0.2	.	11.4403	0.50092	0.0:0.0:1.0:0.0	.	179;179;533	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	K	533;179;179;179;533	ENSP00000422947:E179K;ENSP00000402595:E179K;ENSP00000395982:E179K;ENSP00000346916:E533K	ENSP00000402595:E179K	E	+	1	0	TRIM34;TRIM6-TRIM34	5612452	0.001000	0.12720	0.920000	0.36463	0.969000	0.65631	-0.146000	0.10250	2.412000	0.81896	0.655000	0.94253	GAG		0.413	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		8	39	0	0	0	1	0	8	39				
NADSYN1	55191	broad.mit.edu	37	11	71175157	71175157	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:71175157C>T	ENST00000319023.2	+	5	564	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	126	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CTACCGCGAGCTGCGCTGGTT	0.617																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(376-378)Ctg>Ttg		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						81.0	63.0	69.0					11																	71175157		2200	4293	6493	SO:0001819	synonymous_variant	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71175157C>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.376C>T	11.37:g.71175157C>T							p.L126L	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			5	564	+			126			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Silent	SNP	ENST00000319023.2	37	c.376C>T	CCDS8201.1																																																																																				0.617	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		4	10	0	0	0	1	0	4	10				
ADAM21P1	145241	broad.mit.edu	37	14	70713731	70713731	+	RNA	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:70713731A>C	ENST00000530196.1	-	0	787					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		ATCATGGTTCACCACAACAAC	0.423																																						ENST00000530196.1																			0																																																			145241							g.chr14:70713731A>C			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713731A>C								NR_003951.1						0	787	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.423	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		29	92	0	0	0	1	0	29	92				
ARNT	405	broad.mit.edu	37	1	150784504	150784504	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:150784504G>A	ENST00000358595.5	-	22	2563	c.2363C>T	c.(2362-2364)tCa>tTa	p.S788L	ARNT_ENST00000354396.2_Missense_Mutation_p.S786L|RNU6-1309P_ENST00000363305.1_RNA|ARNT_ENST00000505755.1_Missense_Mutation_p.S773L|ARNT_ENST00000515192.1_Missense_Mutation_p.S774L	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	788					cell differentiation (GO:0030154)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor activity (GO:0004874)|aryl hydrocarbon receptor binding (GO:0017162)|enhancer binding (GO:0035326)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTTCTATTCTGAAAAGGGGGG	0.383			T	ETV6	AML																																	ENST00000358595.5				Dom	yes		1	1q21	405	T	aryl hydrocarbon receptor nuclear translocator			L	ETV6		AML		0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34						c.(2362-2364)tCa>tTa		aryl hydrocarbon receptor nuclear translocator							68.0	68.0	68.0					1																	150784504		2203	4300	6503	SO:0001583	missense	405				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	g.chr1:150784504G>A	AF001307	CCDS970.1, CCDS971.1, CCDS65641.1, CCDS65642.1	1q21	2013-05-21			ENSG00000143437	ENSG00000143437		"""Basic helix-loop-helix proteins"""	700	protein-coding gene	gene with protein product		126110					Standard	NM_001668		Approved	HIF-1beta, bHLHe2	uc001evr.2	P27540	OTTHUMG00000035011	ENST00000358595.5:c.2363C>T	1.37:g.150784504G>A	ENSP00000351407:p.Ser788Leu					ARNT_ENST00000505755.1_Missense_Mutation_p.S773L|ARNT_ENST00000515192.1_Missense_Mutation_p.S774L|ARNT_ENST00000354396.2_Missense_Mutation_p.S786L	p.S788L	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		22	2563	-	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		788					B2R9H1|C4AMA1|F8WAP6|Q59ED4|Q5QP39|Q8NDC7	Missense_Mutation	SNP	ENST00000358595.5	37	c.2363C>T	CCDS970.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167280	0.57476	.	.	ENSG00000143437	ENST00000358595;ENST00000354396;ENST00000515192;ENST00000394700;ENST00000505755	T;T;T;T	0.06687	3.39;3.36;3.39;3.27	5.2	5.2	0.72013	.	0.303109	0.32028	N	0.006689	T	0.16599	0.0399	M	0.64997	1.995	0.44798	D	0.997807	P;D;D;D;P	0.59767	0.704;0.986;0.986;0.986;0.835	B;P;P;P;B	0.58721	0.113;0.844;0.844;0.844;0.227	T	0.00706	-1.1601	10	0.87932	D	0	.	18.7458	0.91792	0.0:0.0:1.0:0.0	.	772;786;774;773;788	A8K6P0;F8WAP6;P27540-3;P27540-2;P27540	.;.;.;.;ARNT_HUMAN	L	788;786;774;739;773	ENSP00000351407:S788L;ENSP00000346372:S786L;ENSP00000423851:S774L;ENSP00000427571:S773L	ENSP00000346372:S786L	S	-	2	0	ARNT	149051128	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.634000	0.74290	2.441000	0.82636	0.655000	0.94253	TCA		0.383	ARNT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084741.2			23	42	0	0	0	1	0	23	42				
FAM187B	148109	broad.mit.edu	37	19	35719090	35719090	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:35719090T>C	ENST00000324675.3	-	1	542	c.494A>G	c.(493-495)tAc>tGc	p.Y165C		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	165						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						AATGTAGCGGTACCCCAGGCG	0.612																																						ENST00000324675.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						c.(493-495)tAc>tGc		family with sequence similarity 187, member B							61.0	60.0	60.0					19																	35719090		2203	4300	6503	SO:0001583	missense	148109					integral to membrane		g.chr19:35719090T>C	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.494A>G	19.37:g.35719090T>C	ENSP00000323355:p.Tyr165Cys						p.Y165C	NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN			1	542	-			165					Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	c.494A>G	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.777539	0.31411	.	.	ENSG00000177558	ENST00000324675	T	0.25912	1.77	5.07	2.55	0.30701	.	0.518457	0.16277	N	0.221515	T	0.42539	0.1207	M	0.62723	1.935	0.30565	N	0.764064	D	0.89917	1.0	D	0.70016	0.967	T	0.40270	-0.9572	10	0.87932	D	0	-35.5961	7.415	0.27040	0.5373:0.0:0.0:0.4627	.	165	Q17R55	F187B_HUMAN	C	165	ENSP00000323355:Y165C	ENSP00000323355:Y165C	Y	-	2	0	FAM187B	40410930	0.650000	0.27331	0.977000	0.42913	0.024000	0.10985	0.050000	0.14120	0.746000	0.32786	0.533000	0.62120	TAC		0.612	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		37	106	0	0	0	1	0	37	106				
TLR7	51284	broad.mit.edu	37	X	12904439	12904439	+	Missense_Mutation	SNP	C	C	T	rs141848808		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:12904439C>T	ENST00000380659.3	+	3	951	c.812C>T	c.(811-813)gCg>gTg	p.A271V		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	271					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TTTCCTTGTGCGCCGTGTAAA	0.378																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(811-813)gCg>gTg		toll-like receptor 7	Imiquimod(DB00724)	C	VAL/ALA	2,3833		0,2,1630,571	110.0	104.0	106.0		812	1.3	0.8	X	dbSNP_134	106	0,6728		0,0,2428,1872	no	missense	TLR7	NM_016562.3	64	0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189	benign	271/1050	12904439	2,10561	2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12904439C>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.812C>T	X.37:g.12904439C>T	ENSP00000370034:p.Ala271Val						p.A271V	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	951	+			271					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.812C>T	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	0.058	-1.232306	0.01505	5.22E-4	0.0	ENSG00000196664	ENST00000380659	T	0.32988	1.43	5.63	1.29	0.21616	.	0.197036	0.43260	D	0.000591	T	0.07999	0.0200	N	0.00771	-1.2	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37753	-0.9692	10	0.12430	T	0.62	.	8.2807	0.31898	0.1087:0.624:0.0:0.2673	.	271	Q9NYK1	TLR7_HUMAN	V	271	ENSP00000370034:A271V	ENSP00000370034:A271V	A	+	2	0	TLR7	12814360	0.000000	0.05858	0.836000	0.33094	0.002000	0.02628	-0.356000	0.07661	0.177000	0.19895	-0.855000	0.03028	GCG		0.378	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		59	61	0	0	0	1	0	59	61				
LRBA	987	broad.mit.edu	37	4	151520221	151520221	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:151520221A>G	ENST00000357115.3	-	38	6227	c.5984T>C	c.(5983-5985)tTt>tCt	p.F1995S	LRBA_ENST00000535741.1_Missense_Mutation_p.F1995S|LRBA_ENST00000507224.1_Missense_Mutation_p.F1995S|LRBA_ENST00000510413.1_Missense_Mutation_p.F1995S	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1995						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTTACGCACAAATCGTCGCCG	0.488																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(5983-5985)tTt>tCt		LPS-responsive vesicle trafficking, beach and anchor containing							135.0	119.0	124.0					4																	151520221		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151520221A>G	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5984T>C	4.37:g.151520221A>G	ENSP00000349629:p.Phe1995Ser					LRBA_ENST00000357115.3_Missense_Mutation_p.F1995S|LRBA_ENST00000510413.1_Missense_Mutation_p.F1995S|LRBA_ENST00000507224.1_Missense_Mutation_p.F1995S	p.F1995S			P50851	LRBA_HUMAN			38	6457	-	all_hematologic(180;0.151)		1995					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.5984T>C	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789073	0.70337	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.55	5.55	0.83447	Domain of unknown function DUF1088 (1);	0.000000	0.85682	D	0.000000	T	0.70098	0.3185	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.971	D;P	0.91635	0.999;0.79	T	0.74475	-0.3653	10	0.87932	D	0	.	15.9915	0.80208	1.0:0.0:0.0:0.0	.	1995;1995	P50851;P50851-2	LRBA_HUMAN;.	S	1995	ENSP00000446299:F1995S;ENSP00000421552:F1995S;ENSP00000349629:F1995S;ENSP00000422180:F1995S	ENSP00000349629:F1995S	F	-	2	0	LRBA	151739671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.374000	0.79633	2.242000	0.73789	0.477000	0.44152	TTT		0.488	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			34	92	0	0	0	1	0	34	92				
NDUFS3	4722	broad.mit.edu	37	11	47603695	47603695	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:47603695A>G	ENST00000263774.4	+	5	519	c.437A>G	c.(436-438)tAc>tGc	p.Y146C	NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	146					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					Doxorubicin(DB00997)	GTGAAGACCTACACAGATGAG	0.532																																					Pancreas(15;551 601 22438 23457 52512)	ENST00000263774.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9						c.(436-438)tAc>tGc		NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						172.0	158.0	162.0					11																	47603695		2201	4298	6499	SO:0001583	missense	4722				induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr11:47603695A>G	AF067139	CCDS7941.1	11p11.11	2011-08-03	2002-08-29		ENSG00000213619	ENSG00000213619	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7710	protein-coding gene	gene with protein product	"""complex I 30kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial"""	603846	"""NADH dehydrogenase (ubiquinone) Fe-S protein 3 (30kD) (NADH-coenzyme Q reductase)"""			9763677	Standard	NM_004551		Approved	CI-30	uc001nga.2	O75489	OTTHUMG00000166893	ENST00000263774.4:c.437A>G	11.37:g.47603695A>G	ENSP00000263774:p.Tyr146Cys					NDUFS3_ENST00000533507.1_3'UTR	p.Y146C	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN			5	519	+			146					B2R9J1|B4DFM8|Q9UNQ8	Missense_Mutation	SNP	ENST00000263774.4	37	c.437A>G	CCDS7941.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.497579	0.85069	.	.	ENSG00000213619	ENST00000263774	D	0.82711	-1.64	6.08	6.08	0.98989	NADH:ubiquinone oxidoreductase, 30kDa subunit (2);	0.000000	0.85682	D	0.000000	D	0.91503	0.7317	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.92217	0.5781	10	0.66056	D	0.02	-16.3734	16.6438	0.85155	1.0:0.0:0.0:0.0	.	146;72	O75489;Q9UF24	NDUS3_HUMAN;.	C	146	ENSP00000263774:Y146C	ENSP00000263774:Y146C	Y	+	2	0	NDUFS3	47560271	1.000000	0.71417	0.987000	0.45799	0.999000	0.98932	8.694000	0.91293	2.333000	0.79357	0.533000	0.62120	TAC		0.532	NDUFS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391749.1	NM_004551		55	138	0	0	0	1	0	55	138				
XKR4	114786	broad.mit.edu	37	8	56015332	56015332	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:56015332C>T	ENST00000327381.6	+	1	384	c.284C>T	c.(283-285)gCg>gTg	p.A95V		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	95						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			gGCTCGGCTGCGCTGTGCCTG	0.781																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(283-285)gCg>gTg		XK, Kell blood group complex subunit-related family, member 4							10.0	11.0	10.0					8																	56015332		2078	4074	6152	SO:0001583	missense	114786					integral to membrane		g.chr8:56015332C>T	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.284C>T	8.37:g.56015332C>T	ENSP00000328326:p.Ala95Val						p.A95V	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	384	+			95					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.284C>T	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343363	0.61073	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.82984	-1.67	4.19	4.19	0.49359	.	0.361890	0.25625	N	0.029394	T	0.68476	0.3005	N	0.08118	0	0.29012	N	0.886784	B	0.23806	0.091	B	0.12156	0.007	T	0.67252	-0.5717	10	0.62326	D	0.03	-1.1497	15.3017	0.73958	0.0:1.0:0.0:0.0	.	95	Q5GH76	XKR4_HUMAN	V	95	ENSP00000328326:A95V	ENSP00000328326:A95V	A	+	2	0	XKR4	56177886	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.761000	0.62243	2.175000	0.68902	0.644000	0.83932	GCG		0.781	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		14	23	0	0	0	1	0	14	23				
ZNF418	147686	broad.mit.edu	37	19	58439140	58439140	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:58439140A>G	ENST00000396147.1	-	4	700	c.409T>C	c.(409-411)Tat>Cat	p.Y137H	ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000599852.1_Missense_Mutation_p.Y52H|ZNF418_ENST00000595830.1_Missense_Mutation_p.Y137H|ZNF418_ENST00000425570.3_Missense_Mutation_p.Y158H|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CTGCTTCTATAGGGTTTCTCT	0.443																																						ENST00000396147.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(409-411)Tat>Cat		zinc finger protein 418							167.0	176.0	173.0					19																	58439140		2195	4294	6489	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58439140A>G	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.409T>C	19.37:g.58439140A>G	ENSP00000379451:p.Tyr137His					ZNF418_ENST00000425570.3_Missense_Mutation_p.Y158H|ZNF418_ENST00000599852.1_Missense_Mutation_p.Y52H|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.Y137H	p.Y137H	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	700	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	137					Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.409T>C	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	13.67	2.307714	0.40795	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.07688	3.17;3.18	2.05	-0.464	0.12160	.	.	.	.	.	T	0.17450	0.0419	L	0.51853	1.615	0.09310	N	1	D	0.65815	0.995	D	0.72982	0.979	T	0.12708	-1.0537	9	0.45353	T	0.12	.	6.3405	0.21321	0.6079:0.0:0.0:0.3921	.	137	Q8TF45	ZN418_HUMAN	H	137;158;103	ENSP00000379451:Y137H;ENSP00000407039:Y158H	ENSP00000379451:Y137H	Y	-	1	0	ZNF418	63130952	0.198000	0.23374	0.000000	0.03702	0.253000	0.25986	1.088000	0.30877	-0.195000	0.10382	0.254000	0.18369	TAT		0.443	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		20	211	0	0	0	1	0	20	211				
THOC6	79228	broad.mit.edu	37	16	3077433	3077433	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3077433G>A	ENST00000326266.8	+	12	1173	c.877G>A	c.(877-879)Gtg>Atg	p.V293M	THOC6_ENST00000253952.9_Intron|THOC6_ENST00000574549.1_Missense_Mutation_p.V269M|THOC6_ENST00000575576.1_Missense_Mutation_p.V269M	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	293					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GAAGGCCCAGGTGCCTGGCTC	0.701																																						ENST00000326266.8																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						c.(877-879)Gtg>Atg		THO complex 6 homolog (Drosophila)							21.0	24.0	23.0					16																	3077433		2198	4299	6497	SO:0001583	missense	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3077433G>A	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.877G>A	16.37:g.3077433G>A	ENSP00000326531:p.Val293Met					THOC6_ENST00000574549.1_Missense_Mutation_p.V269M|THOC6_ENST00000253952.9_Intron|THOC6_ENST00000575576.1_Missense_Mutation_p.V269M	p.V293M	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN			12	1173	+			293					B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	c.877G>A	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196930	0.38806	.	.	ENSG00000131652	ENST00000326266	T	0.30182	1.54	4.76	4.76	0.60689	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.066712	0.64402	D	0.000014	T	0.25606	0.0623	L	0.46157	1.445	0.80722	D	1	B	0.29037	0.231	B	0.25140	0.058	T	0.09662	-1.0664	10	0.72032	D	0.01	-16.0187	8.8139	0.34985	0.1004:0.0:0.8996:0.0	.	293	Q86W42	THOC6_HUMAN	M	293	ENSP00000326531:V293M	ENSP00000326531:V293M	V	+	1	0	THOC6	3017434	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.902000	0.69869	2.494000	0.84150	0.462000	0.41574	GTG		0.701	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		14	47	0	0	0	1	0	14	47				
ITPR1	3708	broad.mit.edu	37	3	4681107	4681107	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:4681107A>C	ENST00000443694.2	+	4	319	c.319A>C	c.(319-321)Aac>Cac	p.N107H	ITPR1_ENST00000423119.2_Missense_Mutation_p.N107H|ITPR1_ENST00000544951.1_Missense_Mutation_p.N107H|ITPR1_ENST00000354582.6_Missense_Mutation_p.N107H|ITPR1_ENST00000357086.4_Missense_Mutation_p.N107H|ITPR1_ENST00000302640.8_Missense_Mutation_p.N107H|ITPR1_ENST00000456211.2_Missense_Mutation_p.N107H			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	107					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TGAGACAGAAAACAGGAAATT	0.463																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(319-321)Aac>Cac		inositol 1,4,5-trisphosphate receptor, type 1							81.0	82.0	82.0					3																	4681107		1968	4161	6129	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4681107A>C	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.319A>C	3.37:g.4681107A>C	ENSP00000401671:p.Asn107His					ITPR1_ENST00000456211.2_Missense_Mutation_p.N107H|ITPR1_ENST00000423119.2_Missense_Mutation_p.N107H|ITPR1_ENST00000544951.1_Missense_Mutation_p.N107H|ITPR1_ENST00000443694.2_Missense_Mutation_p.N107H|ITPR1_ENST00000354582.6_Missense_Mutation_p.N107H|ITPR1_ENST00000357086.4_Missense_Mutation_p.N107H	p.N107H	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	6	669	+			107					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.319A>C	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.187511	0.78789	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.97529	-2.88;-2.88;-2.87;-2.87;-2.88;-4.42;-2.88	5.32	4.16	0.48862	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR (1);	0.000000	0.85682	D	0.000000	D	0.98065	0.9362	M	0.87900	2.915	0.41674	D	0.989258	D;D;P;D;D	0.89917	1.0;0.993;0.906;0.999;1.0	D;D;P;D;D	0.77004	0.986;0.978;0.678;0.989;0.989	D	0.97909	1.0307	10	0.15499	T	0.54	.	11.2807	0.49192	0.9285:0.0:0.0715:0.0	.	107;107;107;107;107	B7ZMI3;E7EPX7;Q14643;E7EVP7;G5E9P1	.;.;ITPR1_HUMAN;.;.	H	107	ENSP00000306253:N107H;ENSP00000346595:N107H;ENSP00000405934:N107H;ENSP00000349597:N107H;ENSP00000397885:N107H;ENSP00000440564:N107H;ENSP00000401671:N107H	ENSP00000306253:N107H	N	+	1	0	ITPR1	4656107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.180000	0.94867	0.967000	0.38186	0.528000	0.53228	AAC		0.463	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		7	11	0	0	0	1	0	7	11				
ARHGEF10	9639	broad.mit.edu	37	8	1808161	1808161	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:1808161A>G	ENST00000398564.1	+	4	364	c.364A>G	c.(364-366)Acg>Gcg	p.T122A	ARHGEF10_ENST00000398560.1_Missense_Mutation_p.T122A|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.T122A|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.T98A|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.T98A|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.T122A			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	122					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CATCGACATCACGCCATTCCA	0.602																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(364-366)Acg>Gcg		Rho guanine nucleotide exchange factor (GEF) 10							151.0	133.0	139.0					8																	1808161		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1808161A>G	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.364A>G	8.37:g.1808161A>G	ENSP00000381571:p.Thr122Ala					ARHGEF10_ENST00000398564.1_Missense_Mutation_p.T122A|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.T122A|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.T98A|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.T122A|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.T98A	p.T122A			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	5	527	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	122					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.364A>G		.	.	.	.	.	.	.	.	.	.	A	4.407	0.075277	0.08485	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112	T;T;T;T;T;T	0.66638	0.43;0.18;0.41;-0.22;0.41;0.38	5.48	1.68	0.24146	.	0.448423	0.22985	N	0.053262	T	0.50411	0.1614	L	0.43152	1.355	0.19775	N	0.999957	B;B;B;B;B	0.16603	0.018;0.018;0.01;0.004;0.018	B;B;B;B;B	0.14578	0.011;0.011;0.002;0.011;0.011	T	0.34229	-0.9837	10	0.33940	T	0.23	-13.9583	3.495	0.07651	0.4628:0.0:0.2226:0.3146	.	122;122;122;98;98	O15013-4;O15013-6;E9PB39;O15013-7;O15013-5	.;.;.;.;.	A	98;98;122;122;122;122	ENSP00000340297:T98A;ENSP00000427909:T98A;ENSP00000431012:T122A;ENSP00000381568:T122A;ENSP00000381571:T122A;ENSP00000262112:T122A	ENSP00000262112:T122A	T	+	1	0	ARHGEF10	1795568	0.996000	0.38824	0.906000	0.35671	0.022000	0.10575	0.884000	0.28214	0.048000	0.15891	-1.372000	0.01188	ACG		0.602	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				11	163	0	0	0	1	0	11	163				
CXADRP3	440224	broad.mit.edu	37	18	14478750	14478750	+	lincRNA	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:14478750C>T	ENST00000581457.1	-	0	1158					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		GCCACTCATACTGTAATGGAA	0.348																																						ENST00000581457.1																			0																																																			440224							g.chr18:14478750C>T			18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478750C>T								NR_024076.1						0	1158	-									RNA	SNP	ENST00000581457.1	37																																																																																						0.348	CXADRP3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000443008.1	NR_024076		6	14	0	0	0	1	0	6	14				
STRN3	29966	broad.mit.edu	37	14	31381256	31381256	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:31381256T>C	ENST00000357479.5	-	11	1703	c.1507A>G	c.(1507-1509)Acc>Gcc	p.T503A	STRN3_ENST00000355683.5_Missense_Mutation_p.T419A|STRN3_ENST00000366206.2_5'Flank	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	503					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		AGTTTCAGGGTATGGTCCTCA	0.398																																						ENST00000355683.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1255-1257)Acc>Gcc		striatin, calmodulin binding protein 3							112.0	109.0	110.0					14																	31381256		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31381256T>C		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.1507A>G	14.37:g.31381256T>C	ENSP00000350071:p.Thr503Ala					STRN3_ENST00000357479.5_Missense_Mutation_p.T503A	p.T419A	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	9	1470	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		435					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.1255A>G	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.905003	0.92035	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	T;T	0.69435	-0.4;-0.4	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.043516	0.85682	D	0.000000	T	0.81484	0.4832	M	0.74258	2.255	0.80722	D	1	D;D	0.63046	0.982;0.992	D;D	0.77004	0.915;0.989	T	0.82754	-0.0301	10	0.54805	T	0.06	-5.3945	16.1263	0.81397	0.0:0.0:0.0:1.0	.	419;503	Q13033-2;Q13033	.;STRN3_HUMAN	A	419;503	ENSP00000347909:T419A;ENSP00000350071:T503A	ENSP00000347909:T419A	T	-	1	0	STRN3	30451007	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.927000	0.87577	2.257000	0.74773	0.533000	0.62120	ACC		0.398	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		6	166	0	0	0	1	0	6	166				
IDO2	169355	broad.mit.edu	37	8	39836655	39836655	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:39836655T>C	ENST00000389060.4	+	3	265	c.265T>C	c.(265-267)Ttc>Ctc	p.F89L	IDO2_ENST00000502986.2_Missense_Mutation_p.F102L|IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	89					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GGTCCTGAGCTTCCTCACCAT	0.617																																						ENST00000502986.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						c.(304-306)Ttc>Ctc		indoleamine 2,3-dioxygenase 2							33.0	37.0	36.0					8																	39836655		2023	4187	6210	SO:0001583	missense	169355				tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39836655T>C	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.265T>C	8.37:g.39836655T>C	ENSP00000426447:p.Phe89Leu					RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Missense_Mutation_p.F89L	p.F102L	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN			4	546	+			89					A4UD41	Missense_Mutation	SNP	ENST00000389060.4	37	c.304T>C		.	.	.	.	.	.	.	.	.	.	T	3.813	-0.039278	0.07497	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.48836	0.8;0.8	5.36	2.7	0.31948	.	0.466841	0.24534	N	0.037698	T	0.34948	0.0915	L	0.52011	1.625	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.22347	-1.0219	9	.	.	.	.	4.3198	0.11011	0.0:0.14:0.2667:0.5933	.	102	F5H5G0	.	L	102;89	ENSP00000443432:F102L;ENSP00000426447:F89L	.	F	+	1	0	IDO2	39955812	0.000000	0.05858	0.001000	0.08648	0.446000	0.32137	-0.171000	0.09883	0.224000	0.20940	0.383000	0.25322	TTC		0.617	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		7	19	0	0	0	1	0	7	19				
ZBTB18	10472	broad.mit.edu	37	1	244218341	244218341	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:244218341C>T	ENST00000358704.4	+	2	1414	c.1265C>T	c.(1264-1266)tCg>tTg	p.S422L		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	413	Interaction with DNMT3A.				cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CCCACGTGCTCGCTGTGTGGG	0.637																																						ENST00000358704.4																			0											c.(1264-1266)tCg>tTg		zinc finger and BTB domain containing 18							61.0	63.0	62.0					1																	244218341		2203	4300	6503	SO:0001583	missense	10472							g.chr1:244218341C>T	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1265C>T	1.37:g.244218341C>T	ENSP00000351539:p.Ser422Leu						p.S422L	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	1414	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	c.1265C>T	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941649	0.53079	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.07444	3.19	5.84	5.84	0.93424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.062182	0.64402	D	0.000004	T	0.04907	0.0132	N	0.08118	0	0.80722	D	1	P;P	0.42456	0.672;0.78	B;B	0.30943	0.057;0.122	T	0.52601	-0.8554	10	0.30854	T	0.27	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	413;422	Q99592;Q99592-2	ZN238_HUMAN;.	L	422	ENSP00000351539:S422L	ENSP00000351539:S422L	S	+	2	0	ZNF238	242284964	1.000000	0.71417	0.986000	0.45419	0.999000	0.98932	6.048000	0.71046	2.779000	0.95612	0.655000	0.94253	TCG		0.637	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		36	67	0	0	0	1	0	36	67				
ACAN	176	broad.mit.edu	37	15	89402512	89402512	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:89402512G>A	ENST00000561243.1	+	11	6696	c.6696G>A	c.(6694-6696)acG>acA	p.T2232T	ACAN_ENST00000439576.2_Silent_p.T2232T|ACAN_ENST00000352105.7_Silent_p.T2232T|ACAN_ENST00000559004.1_Silent_p.T2232T			P16112	PGCA_HUMAN	aggrecan	2117	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.|G3.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGCAGAGACGCATCTAGAAA	0.577																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6694-6696)acG>acA		aggrecan							38.0	42.0	41.0					15																	89402512		2093	4224	6317	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89402512G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6696G>A	15.37:g.89402512G>A						ACAN_ENST00000352105.7_Silent_p.T2232T|ACAN_ENST00000559004.1_Silent_p.T2232T|ACAN_ENST00000561243.1_Silent_p.T2232T	p.T2232T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	7070	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2232					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.6696G>A	CCDS53970.1																																																																																				0.577	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		18	24	0	0	0	1	0	18	24				
ITGA9	3680	broad.mit.edu	37	3	37565066	37565066	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:37565066T>G	ENST00000264741.5	+	12	1547	c.1291T>G	c.(1291-1293)Tcg>Gcg	p.S431A	ITGA9_ENST00000422441.1_Missense_Mutation_p.S431A	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	431					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TCAGTCCATATCGGGAGGCAT	0.398																																						ENST00000264741.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(1291-1293)Tcg>Gcg		integrin, alpha 9							133.0	123.0	126.0					3																	37565066		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37565066T>G	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.1291T>G	3.37:g.37565066T>G	ENSP00000264741:p.Ser431Ala					ITGA9_ENST00000422441.1_Missense_Mutation_p.S431A	p.S431A	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	12	1547	+			431					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.1291T>G	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.504489	0.85176	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	T;T	0.38560	1.13;1.13	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	L	0.42744	1.35	0.80722	D	1	P;D	0.65815	0.942;0.995	P;P	0.58013	0.638;0.831	T	0.49390	-0.8945	10	0.44086	T	0.13	.	16.4608	0.84044	0.0:0.0:0.0:1.0	.	431;431	Q13797;E9PDS3	ITA9_HUMAN;.	A	431	ENSP00000397258:S431A;ENSP00000264741:S431A	ENSP00000264741:S431A	S	+	1	0	ITGA9	37540070	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	TCG		0.398	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		20	68	0	0	0	1	0	20	68				
PLAC8L1	153770	broad.mit.edu	37	5	145464016	145464016	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:145464016C>T	ENST00000311450.4	-	4	570	c.513G>A	c.(511-513)atG>atA	p.M171I		NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	171										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCCTTAGTCATTGGGACTG	0.517																																						ENST00000311450.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10						c.(511-513)atG>atA		PLAC8-like 1							176.0	174.0	175.0					5																	145464016		2203	4300	6503	SO:0001583	missense	153770							g.chr5:145464016C>T		CCDS34264.1	5q32	2008-02-05			ENSG00000173261	ENSG00000173261			31746	protein-coding gene	gene with protein product							Standard	XM_005268381		Approved		uc003lnv.3	A1L4L8	OTTHUMG00000163418	ENST00000311450.4:c.513G>A	5.37:g.145464016C>T	ENSP00000309087:p.Met171Ile						p.M171I	NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	570	-			171						Missense_Mutation	SNP	ENST00000311450.4	37	c.513G>A	CCDS34264.1	.	.	.	.	.	.	.	.	.	.	C	8.328	0.825817	0.16749	.	.	ENSG00000173261	ENST00000311450	T	0.41758	0.99	4.73	-9.46	0.00597	.	1.284310	0.05184	N	0.501905	T	0.15262	0.0368	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10917	-1.0609	10	0.17369	T	0.5	0.1034	3.1833	0.06592	0.1072:0.3386:0.3512:0.203	.	171	A1L4L8	PL8L1_HUMAN	I	171	ENSP00000309087:M171I	ENSP00000309087:M171I	M	-	3	0	PLAC8L1	145444209	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.840000	0.00353	-2.354000	0.00614	-0.235000	0.12190	ATG		0.517	PLAC8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373290.1	XM_087761		19	159	0	0	0	1	0	19	159				
ECT2	1894	broad.mit.edu	37	3	172482230	172482230	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:172482230C>A	ENST00000392692.3	+	12	1407	c.1231C>A	c.(1231-1233)Ctt>Att	p.L411I	ECT2_ENST00000232458.5_Missense_Mutation_p.L380I|ECT2_ENST00000417960.1_Missense_Mutation_p.L379I|ECT2_ENST00000441497.2_Missense_Mutation_p.L380I|ECT2_ENST00000427830.1_Missense_Mutation_p.L380I|ECT2_ENST00000540509.1_Missense_Mutation_p.L411I	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	411					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TGAGCATTCCCTTTCCATAGG	0.433																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1135-1137)Ctt>Att		epithelial cell transforming sequence 2 oncogene							149.0	136.0	140.0					3																	172482230		2203	4300	6503	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172482230C>A	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1231C>A	3.37:g.172482230C>A	ENSP00000376457:p.Leu411Ile					ECT2_ENST00000232458.5_Missense_Mutation_p.L380I|ECT2_ENST00000540509.1_Missense_Mutation_p.L411I|ECT2_ENST00000441497.2_Missense_Mutation_p.L380I|ECT2_ENST00000427830.1_Missense_Mutation_p.L380I|ECT2_ENST00000392692.3_Missense_Mutation_p.L411I	p.L379I	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		12	1612	+	Ovarian(172;0.00197)|Breast(254;0.158)		380					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.1135C>A	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235373	0.79800	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.73	4.84	0.62591	Dbl homology (DH) domain (1);	0.056218	0.64402	D	0.000001	T	0.52224	0.1721	L	0.51422	1.61	0.58432	D	0.999999	P;D;P;B	0.58970	0.945;0.984;0.851;0.34	P;P;P;B	0.58454	0.829;0.839;0.493;0.155	T	0.45101	-0.9284	10	0.15499	T	0.54	-13.5073	16.5384	0.84377	0.0:0.8691:0.1308:0.0	.	411;411;380;379	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	I	380;411;380;379;380;411	ENSP00000232458:L380I;ENSP00000376457:L411I;ENSP00000401910:L380I;ENSP00000415876:L379I;ENSP00000412259:L380I;ENSP00000443160:L411I	ENSP00000232458:L380I	L	+	1	0	ECT2	173964924	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.937000	0.56575	1.379000	0.46325	0.655000	0.94253	CTT		0.433	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		4	118	1	0	0.014758	1	0.0148535	4	118				
CTSC	1075	broad.mit.edu	37	11	88033761	88033761	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:88033761G>T	ENST00000227266.5	-	5	808	c.694C>A	c.(694-696)Cca>Aca	p.P232T		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	232					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAAGATGTTGGCAAATGCAAA	0.343																																						ENST00000227266.5																			0				large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22						c.(694-696)Cca>Aca		cathepsin C							122.0	121.0	121.0					11																	88033761		2201	4299	6500	SO:0001583	missense	1075				immune response	lysosome	cysteine-type endopeptidase activity	g.chr11:88033761G>T	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.694C>A	11.37:g.88033761G>T	ENSP00000227266:p.Pro232Thr						p.P232T	NM_001814.4	NP_001805.3	P53634	CATC_HUMAN			5	808	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	232					A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Missense_Mutation	SNP	ENST00000227266.5	37	c.694C>A	CCDS8282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.065961|4.065961	0.76187|0.76187	.|.	.|.	ENSG00000109861|ENSG00000109861	ENST00000527018|ENST00000393302;ENST00000227266	.|D	.|0.95035	.|-3.59	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Peptidase C1A, papain C-terminal (2);	.|0.051103	.|0.85682	.|D	.|0.000000	.|D	.|0.97911	.|0.9313	M|M	0.91717|0.91717	3.235|3.235	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	.|D	.|0.98607	.|1.0661	.|9	.|.	.|.	.|.	.|.	18.952|18.952	0.92644|0.92644	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|215;232	.|B4DJQ8;P53634	.|.;CATC_HUMAN	X|T	188|215;232	.|ENSP00000227266:P232T	.|.	C|P	-|-	3|1	2|0	CTSC|CTSC	87673409|87673409	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.634000|0.634000	0.38068|0.38068	9.176000|9.176000	0.94839|0.94839	2.488000|2.488000	0.83962|0.83962	0.650000|0.650000	0.86243|0.86243	TGC|CCA		0.343	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		14	65	1	0	0.000219431	1	0.000222589	14	65				
SIM1	6492	broad.mit.edu	37	6	100838718	100838718	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:100838718G>A	ENST00000369208.3	-	12	2602	c.1820C>T	c.(1819-1821)gCa>gTa	p.A607V	SIM1_ENST00000262901.4_Missense_Mutation_p.A607V			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	607	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTGGTAGTTTGCAAAACACAG	0.478																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1819-1821)gCa>gTa		single-minded family bHLH transcription factor 1							81.0	83.0	82.0					6																	100838718		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838718G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1820C>T	6.37:g.100838718G>A	ENSP00000358210:p.Ala607Val					SIM1_ENST00000262901.4_Missense_Mutation_p.A607V	p.A607V			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	12	2602	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	607			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1820C>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350211	0.61183	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.34472	1.36;1.36	5.82	5.82	0.92795	Single-minded, C-terminal (2);	0.144840	0.64402	D	0.000006	T	0.16811	0.0404	N	0.14661	0.345	0.54753	D	0.999989	B	0.16396	0.017	B	0.17098	0.017	T	0.04579	-1.0941	10	0.62326	D	0.03	.	20.1178	0.97943	0.0:0.0:1.0:0.0	.	607	P81133	SIM1_HUMAN	V	607	ENSP00000358210:A607V;ENSP00000262901:A607V	ENSP00000262901:A607V	A	-	2	0	SIM1	100945439	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.656000	0.91102	2.759000	0.94783	0.557000	0.71058	GCA		0.478	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		5	101	0	0	0	1	0	5	101				
SLC4A11	83959	broad.mit.edu	37	20	3212165	3212165	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:3212165C>T	ENST00000380056.3	-	7	854	c.807G>A	c.(805-807)gcG>gcA	p.A269A	SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000539553.2_Silent_p.A253A|SLC4A11_ENST00000380059.3_Silent_p.A296A	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	269			A -> V (in CHED2; affects transport to the cell surface). {ECO:0000269|PubMed:18474783}.		bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CAAACGTGCGCGCCACCTCCA	0.602																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(886-888)gcG>gcA		solute carrier family 4, sodium borate transporter, member 11							86.0	80.0	82.0					20																	3212165		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3212165C>T	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.807G>A	20.37:g.3212165C>T						SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.A269A|SLC4A11_ENST00000539553.1_Silent_p.A253A	p.A296A	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			8	989	-			269					B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.888G>A	CCDS13052.1																																																																																				0.602	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			30	89	0	0	0	1	0	30	89				
PPP2R5A	5525	broad.mit.edu	37	1	212530583	212530583	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:212530583A>T	ENST00000261461.2	+	11	1757	c.1183A>T	c.(1183-1185)Atg>Ttg	p.M395L	RP11-384C4.2_ENST00000447949.1_RNA|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.M338L	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	395					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TCTGCCAATTATGTTTGCCAG	0.284																																						ENST00000261461.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16						c.(1183-1185)Atg>Ttg		protein phosphatase 2, regulatory subunit B', alpha							71.0	73.0	72.0					1																	212530583		2202	4297	6499	SO:0001583	missense	5525				negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity	g.chr1:212530583A>T	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9309	protein-coding gene	gene with protein product		601643	"""protein phosphatase 2, regulatory subunit B (B56), alpha isoform"", ""protein phosphatase 2, regulatory subunit B', alpha isoform"""			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.1183A>T	1.37:g.212530583A>T	ENSP00000261461:p.Met395Leu					PPP2R5A_ENST00000537030.3_Missense_Mutation_p.M338L	p.M395L	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)	11	1757	+			395					B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	37	c.1183A>T	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.646428	0.67358	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.76	5.76	0.90799	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	L	0.41961	1.31	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.19148	0.014;0.024	T	0.55016	-0.8206	9	0.59425	D	0.04	-22.1394	16.3695	0.83350	1.0:0.0:0.0:0.0	.	338;395	B7Z7L2;Q15172	.;2A5A_HUMAN	L	395;395;338	.	ENSP00000261461:M395L	M	+	1	0	PPP2R5A	210597206	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.093000	0.94163	2.315000	0.78130	0.533000	0.62120	ATG		0.284	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		8	25	0	0	0	1	0	8	25				
SIN3B	23309	broad.mit.edu	37	19	16952724	16952724	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:16952724T>C	ENST00000248054.5	+	4	548	c.527T>C	c.(526-528)tTc>tCc	p.F176S	SIN3B_ENST00000596802.1_Missense_Mutation_p.F176S|CTD-2538G9.5_ENST00000600987.1_RNA|SIN3B_ENST00000379803.1_Missense_Mutation_p.F176S					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAAACCCGCTTCCTAGACCAC	0.478																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(526-528)tTc>tCc		SIN3 transcription regulator family member B							88.0	83.0	85.0					19																	16952724		2203	4300	6503	SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16952724T>C	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.527T>C	19.37:g.16952724T>C	ENSP00000248054:p.Phe176Ser					SIN3B_ENST00000248054.5_Missense_Mutation_p.F176S|SIN3B_ENST00000596802.1_Missense_Mutation_p.F176S	p.F176S	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			4	541	+			176			PAH 2.			Missense_Mutation	SNP	ENST00000248054.5	37	c.527T>C		.	.	.	.	.	.	.	.	.	.	T	27.8	4.864862	0.91511	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.65732	-0.17;-0.05	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.80423	0.4620	M	0.85630	2.765	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.74674	0.984;0.939;0.973	D	0.83749	0.0208	10	0.66056	D	0.02	-0.1842	14.2539	0.66038	0.0:0.0:0.0:1.0	.	176;176;176	O75182-2;O75182;O75182-3	.;SIN3B_HUMAN;.	S	176	ENSP00000369131:F176S;ENSP00000248054:F176S	ENSP00000248054:F176S	F	+	2	0	SIN3B	16813724	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.837000	0.86796	1.963000	0.57068	0.455000	0.32223	TTC		0.478	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		4	118	0	0	0	1	0	4	118				
LTBP4	8425	broad.mit.edu	37	19	41135437	41135437	+	Silent	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41135437C>A	ENST00000308370.7	+	34	4854	c.4854C>A	c.(4852-4854)ccC>ccA	p.P1618P	LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Silent_p.P1551P|LTBP4_ENST00000204005.9_Silent_p.P1581P	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1619	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGTGCGCCCGCACGGCCCC	0.736																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(4852-4854)ccC>ccA		latent transforming growth factor beta binding protein 4							9.0	11.0	11.0					19																	41135437		1942	4052	5994	SO:0001819	synonymous_variant	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41135437C>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4854C>A	19.37:g.41135437C>A						LTBP4_ENST00000396819.3_Silent_p.P1551P|LTBP4_ENST00000204005.9_Silent_p.P1581P|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000602240.1_3'UTR	p.P1618P	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		34	4854	+			1619			EGF-like 16.		O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37	c.4854C>A																																																																																					0.736	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		6	25	1	0	0.00198382	1	0.00200201	6	25				
NTRK3	4916	broad.mit.edu	37	15	88678452	88678452	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:88678452A>T	ENST00000360948.2	-	9	1245	c.1084T>A	c.(1084-1086)Tgc>Agc	p.C362S	NTRK3_ENST00000317501.3_Missense_Mutation_p.C362S|NTRK3_ENST00000394480.2_Missense_Mutation_p.C362S|NTRK3_ENST00000558676.1_Missense_Mutation_p.C362S|NTRK3_ENST00000542733.2_Missense_Mutation_p.C264S|NTRK3_ENST00000355254.2_Missense_Mutation_p.C362S|NTRK3_ENST00000357724.2_Missense_Mutation_p.C362S|NTRK3_ENST00000540489.2_Missense_Mutation_p.C362S|NTRK3_ENST00000557856.1_Missense_Mutation_p.C362S	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	362	Ig-like C2-type 2.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGAGCAGGCAGCCCTCGGAA	0.552			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												ENST00000394480.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(1084-1086)Tgc>Agc		neurotrophic tyrosine kinase, receptor, type 3							237.0	218.0	225.0					15																	88678452		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88678452A>T	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1084T>A	15.37:g.88678452A>T	ENSP00000354207:p.Cys362Ser	TSP Lung(13;0.10)				NTRK3_ENST00000357724.2_Missense_Mutation_p.C362S|NTRK3_ENST00000557856.1_Missense_Mutation_p.C362S|NTRK3_ENST00000542733.2_Missense_Mutation_p.C264S|NTRK3_ENST00000540489.2_Missense_Mutation_p.C362S|NTRK3_ENST00000360948.2_Missense_Mutation_p.C362S|NTRK3_ENST00000317501.3_Missense_Mutation_p.C362S|NTRK3_ENST00000558676.1_Missense_Mutation_p.C362S|NTRK3_ENST00000355254.2_Missense_Mutation_p.C362S	p.C362S	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		10	1405	-			362			Ig-like C2-type 2.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1084T>A	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.546224	0.86022	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.17	5.17	0.71159	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;0.997;1.0	D;D;D;D;D;D	0.97110	0.999;0.996;1.0;0.999;0.993;0.999	T	0.75642	-0.3247	10	0.87932	D	0	.	14.2042	0.65724	1.0:0.0:0.0:0.0	.	264;362;362;362;362;362	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	S	362;362;362;362;264;362;362	ENSP00000377990:C362S;ENSP00000354207:C362S;ENSP00000350356:C362S;ENSP00000347397:C362S;ENSP00000437773:C264S;ENSP00000444673:C362S;ENSP00000318328:C362S	ENSP00000318328:C362S	C	-	1	0	NTRK3	86479456	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.902000	0.92568	1.940000	0.56252	0.460000	0.39030	TGC		0.552	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				22	120	0	0	0	1	0	22	120				
GOLGA5	9950	broad.mit.edu	37	14	93282745	93282745	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:93282745T>C	ENST00000163416.2	+	7	1726	c.1470T>C	c.(1468-1470)caT>caC	p.H490H	GOLGA5_ENST00000355976.2_Silent_p.H490H	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	490					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GCCAGATACATCAGCTCAGAT	0.478			T	RET	papillary thyroid																																	ENST00000163416.2				Dom	yes		14	14q	9950	T	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""			E	RET		papillary thyroid		0				large_intestine(6)|lung(1)|ovary(2)	9						c.(1468-1470)caT>caC		golgin A5							112.0	107.0	109.0					14																	93282745		2203	4300	6503	SO:0001819	synonymous_variant	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93282745T>C	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1470T>C	14.37:g.93282745T>C						GOLGA5_ENST00000355976.2_Silent_p.H490H	p.H490H	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	7	1726	+		all_cancers(154;0.0934)	490					C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Silent	SNP	ENST00000163416.2	37	c.1470T>C	CCDS9905.1																																																																																				0.478	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			4	142	0	0	0	1	0	4	142				
FERMT3	83706	broad.mit.edu	37	11	63986797	63986797	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:63986797C>T	ENST00000279227.5	+	7	956	c.861C>T	c.(859-861)acC>acT	p.T287T	FERMT3_ENST00000345728.5_Silent_p.T287T	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	287	FERM.				integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						TTGACTGCACCGAGGAGGAGA	0.677																																						ENST00000279227.5																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						c.(859-861)acC>acT		fermitin family member 3							40.0	36.0	38.0					11																	63986797		2199	4296	6495	SO:0001819	synonymous_variant	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63986797C>T	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.861C>T	11.37:g.63986797C>T						FERMT3_ENST00000345728.5_Silent_p.T287T	p.T287T	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN			7	956	+			287			FERM.		Q8IUA1|Q8N207|Q9BT48	Silent	SNP	ENST00000279227.5	37	c.861C>T	CCDS8060.1																																																																																				0.677	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		6	21	0	0	0	1	0	6	21				
C10orf2	56652	broad.mit.edu	37	10	102748696	102748696	+	Silent	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:102748696C>A	ENST00000311916.2	+	1	914	c.729C>A	c.(727-729)gcC>gcA	p.A243A	MRPL43_ENST00000318325.2_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000299179.5_5'Flank|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000370234.4_5'Flank|C10orf2_ENST00000370228.1_Silent_p.A243A	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	243					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GACCCAGCGCCTACCACAATC	0.567																																						ENST00000370228.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24						c.(727-729)gcC>gcA		chromosome 10 open reading frame 2							85.0	78.0	80.0					10																	102748696		2203	4300	6503	SO:0001819	synonymous_variant	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102748696C>A	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.729C>A	10.37:g.102748696C>A						C10orf2_ENST00000311916.2_Silent_p.A243A|C10orf2_ENST00000473656.1_Intron	p.A243A	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	1	914	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	243					B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Silent	SNP	ENST00000311916.2	37	c.729C>A	CCDS7506.1																																																																																				0.567	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		27	76	1	0	4.87955e-14	1	5.09883e-14	27	76				
TNR	7143	broad.mit.edu	37	1	175293598	175293598	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:175293598T>C	ENST00000367674.2	-	22	4559	c.3851A>G	c.(3850-3852)gAt>gGt	p.D1284G	TNR_ENST00000263525.2_Missense_Mutation_p.D1284G|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R	1284	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACTGCAACATCATTGTCTCT	0.502																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(3850-3852)gAt>gGt		tenascin R							264.0	207.0	226.0					1																	175293598		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175293598T>C	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3851A>G	1.37:g.175293598T>C	ENSP00000356646:p.Asp1284Gly					TNR_ENST00000263525.2_Missense_Mutation_p.D1284G|RP3-518E13.2_ENST00000569593.1_RNA	p.D1284G	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			22	4559	-	Renal(580;0.146)		1284			Fibrinogen C-terminal.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3851A>G	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.902785	0.92035	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	D;D	0.82893	-1.66;-1.66	5.66	5.66	0.87406	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.93752	0.8003	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95385	0.8476	10	0.72032	D	0.01	.	15.5673	0.76303	0.0:0.0:0.0:1.0	.	1284	Q92752	TENR_HUMAN	G	1284;1284;1194	ENSP00000356646:D1284G;ENSP00000263525:D1284G	ENSP00000263525:D1284G	D	-	2	0	TNR	173560221	1.000000	0.71417	0.987000	0.45799	0.965000	0.64279	7.930000	0.87610	2.154000	0.67381	0.533000	0.62120	GAT		0.502	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		32	87	0	0	0	1	0	32	87				
SMAD3	4088	broad.mit.edu	37	15	67459160	67459160	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:67459160T>C	ENST00000327367.4	+	4	886	c.576T>C	c.(574-576)agT>agC	p.S192S	SMAD3_ENST00000540846.2_Silent_p.S87S|SMAD3_ENST00000439724.3_Silent_p.S148S|SMAD3_ENST00000537194.2_5'UTR	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	192	Linker.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GAGAAACCAGTGACCACCAGA	0.527																																						ENST00000327367.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(574-576)agT>agC		SMAD family member 3							113.0	86.0	95.0					15																	67459160		2201	4298	6499	SO:0001819	synonymous_variant	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67459160T>C	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.576T>C	15.37:g.67459160T>C						SMAD3_ENST00000537194.2_5'UTR|SMAD3_ENST00000439724.3_Silent_p.S148S|SMAD3_ENST00000540846.2_Silent_p.S87S	p.S192S	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	4	886	+			192			Linker.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Silent	SNP	ENST00000327367.4	37	c.576T>C	CCDS10222.1																																																																																				0.527	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		3	6	0	0	0	1	0	3	6				
ZSCAN5A	79149	broad.mit.edu	37	19	56733136	56733136	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:56733136G>C	ENST00000587340.1	-	7	1994	c.1299C>G	c.(1297-1299)agC>agG	p.S433R	ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.S433R|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.S432R|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.S287R|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.S316R			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	433					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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CCCCTGTGTGGCTTCTCTTGT	0.537																																						ENST00000587340.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1297-1299)agC>agG		zinc finger and SCAN domain containing 5A							55.0	51.0	52.0					19																	56733136		2203	4297	6500	SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56733136G>C	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.1299C>G	19.37:g.56733136G>C	ENSP00000467631:p.Ser433Arg					ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.S433R|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.S316R|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.S432R|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.S287R	p.S433R			Q9BUG6	ZSA5A_HUMAN			7	1994	-			433					B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.1299C>G	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107546	0.37145	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.08102	3.13;3.13	2.73	-3.9	0.04181	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07728	0.0194	N	0.20986	0.625	0.18873	N	0.999987	D;P	0.55800	0.973;0.942	P;P	0.54815	0.761;0.581	T	0.21621	-1.0240	9	0.72032	D	0.01	.	0.9009	0.01273	0.2401:0.3103:0.2842:0.1654	.	316;433	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	R	433;316	ENSP00000375593:S433R;ENSP00000254165:S316R	ENSP00000254165:S316R	S	-	3	2	ZSCAN5A	61424948	0.000000	0.05858	0.015000	0.15790	0.011000	0.07611	-0.641000	0.05434	-0.286000	0.09076	-0.320000	0.08662	AGC		0.537	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		4	54	0	0	0	1	0	4	54				
TNRC6A	27327	broad.mit.edu	37	16	24833454	24833454	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:24833454A>G	ENST00000395799.3	+	23	5488	c.5359A>G	c.(5359-5361)Aac>Gac	p.N1787D	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.N1738D|TNRC6A_ENST00000432286.2_Missense_Mutation_p.N265D	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1787	RRM.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGTTCTAAAAAACCTTACACC	0.473																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(5359-5361)Aac>Gac		trinucleotide repeat containing 6A							139.0	119.0	126.0					16																	24833454		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24833454A>G	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5359A>G	16.37:g.24833454A>G	ENSP00000379144:p.Asn1787Asp					TNRC6A_ENST00000315183.7_Missense_Mutation_p.N1738D|TNRC6A_ENST00000432286.2_Missense_Mutation_p.N265D	p.N1787D	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	23	5488	+			1787			RRM.|Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.5359A>G	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.0|29.0	4.972904|4.972904	0.92919|0.92919	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000450465|ENST00000315183;ENST00000395799;ENST00000432286	.|T;T;T	.|0.58652	.|0.32;0.32;0.32	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	.|0.050343	.|0.85682	.|D	.|0.000000	T|T	0.76004|0.76004	0.3927|0.3927	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.987;0.997	.|P;D	.|0.75020	.|0.724;0.985	T|T	0.79911|0.79911	-0.1603|-0.1603	6|10	0.05721|0.87932	T|D	0.95|0	-6.3206|-6.3206	15.1935|15.1935	0.73067|0.73067	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1738;1787	.|Q8NDV7-6;Q8NDV7	.|.;TNR6A_HUMAN	R|D	677|1738;1787;265	.|ENSP00000326900:N1738D;ENSP00000379144:N1787D;ENSP00000403015:N265D	ENSP00000404278:K677R|ENSP00000326900:N1738D	K|N	+|+	2|1	0|0	TNRC6A|TNRC6A	24740955|24740955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.465000|7.465000	0.80898|0.80898	1.981000|1.981000	0.57761|0.57761	0.533000|0.533000	0.62120|0.62120	AAA|AAC		0.473	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		17	43	0	0	0	1	0	17	43				
OR2Y1	134083	broad.mit.edu	37	5	180166537	180166537	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:180166537A>G	ENST00000307832.2	-	1	562	c.522T>C	c.(520-522)aaT>aaC	p.N174N		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	174						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(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAAGAAGTGATTCAGTCGAT	0.552																																						ENST00000307832.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(520-522)aaT>aaC		olfactory receptor, family 2, subfamily Y, member 1							64.0	57.0	60.0					5																	180166537		2203	4300	6503	SO:0001819	synonymous_variant	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166537A>G	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.522T>C	5.37:g.180166537A>G							p.N174N	NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	562	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	174					B9EIP1|Q6IFB1|Q96R16	Silent	SNP	ENST00000307832.2	37	c.522T>C	CCDS34323.1																																																																																				0.552	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		18	73	0	0	0	1	0	18	73				
GXYLT2	727936	broad.mit.edu	37	3	73006420	73006420	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:73006420T>C	ENST00000389617.4	+	5	1054	c.893T>C	c.(892-894)tTg>tCg	p.L298S		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	298					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						GAGGACATGTTGTACCCTCTG	0.413																																						ENST00000389617.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(892-894)tTg>tCg		glucoside xylosyltransferase 2							98.0	84.0	88.0					3																	73006420		1876	4106	5982	SO:0001583	missense	727936				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr3:73006420T>C	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.893T>C	3.37:g.73006420T>C	ENSP00000374268:p.Leu298Ser						p.L298S	NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN			5	1054	+			298						Missense_Mutation	SNP	ENST00000389617.4	37	c.893T>C	CCDS46870.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.689748	0.88735	.	.	ENSG00000172986	ENST00000389617;ENST00000491839	T;T	0.27402	1.67;1.67	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.62998	0.2474	M	0.89287	3.02	0.58432	D	0.999999	D	0.76494	0.999	D	0.72075	0.976	T	0.69789	-0.5050	10	0.66056	D	0.02	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	298	A0PJZ3	GXLT2_HUMAN	S	298;59	ENSP00000374268:L298S;ENSP00000420426:L59S	ENSP00000374268:L298S	L	+	2	0	GXYLT2	73089110	1.000000	0.71417	0.974000	0.42286	0.996000	0.88848	7.859000	0.86982	2.326000	0.78906	0.533000	0.62120	TTG		0.413	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393		15	36	0	0	0	1	0	15	36				
PDZD8	118987	broad.mit.edu	37	10	119042842	119042842	+	Silent	SNP	T	T	C	rs148191940		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:119042842T>C	ENST00000334464.5	-	5	3641	c.3402A>G	c.(3400-3402)ctA>ctG	p.L1134L	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1134					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GAGAGTCTATTAGTTGGCTTA	0.383																																						ENST00000334464.5																			0				kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38						c.(3400-3402)ctA>ctG		PDZ domain containing 8		T		2,4404	4.2+/-10.8	0,2,2201	159.0	151.0	154.0		3402	-0.6	1.0	10	dbSNP_134	154	0,8600		0,0,4300	no	coding-synonymous	PDZD8	NM_173791.3		0,2,6501	CC,CT,TT		0.0,0.0454,0.0154		1134/1155	119042842	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	118987				intracellular signal transduction		metal ion binding	g.chr10:119042842T>C	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.3402A>G	10.37:g.119042842T>C							p.L1134L	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	3641	-		Colorectal(252;0.19)	1134					Q86WE0|Q86WE5|Q9UFF1	Silent	SNP	ENST00000334464.5	37	c.3402A>G	CCDS7600.1																																																																																				0.383	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		6	72	0	0	0	1	0	6	72				
TENM3	55714	broad.mit.edu	37	4	183675635	183675635	+	Missense_Mutation	SNP	G	G	A	rs543878787	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:183675635G>A	ENST00000511685.1	+	22	4238	c.4115G>A	c.(4114-4116)cGt>cAt	p.R1372H	TENM3_ENST00000406950.2_Missense_Mutation_p.R1372H|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1372					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R1372L(1)|p.R1372H(1)									ACTGAAAATCGTCAAGTTCGC	0.493													G|||	2	0.000399361	0.0	0.0	5008	,	,		19944	0.0		0.0	False		,,,				2504	0.002					ENST00000511685.1																			2	Substitution - Missense(2)	p.R1372L(1)|p.R1372H(1)	large_intestine(1)|lung(1)								c.(4114-4116)cGt>cAt		teneurin transmembrane protein 3							59.0	56.0	57.0					4																	183675635		1973	4175	6148	SO:0001583	missense	55714							g.chr4:183675635G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4115G>A	4.37:g.183675635G>A	ENSP00000424226:p.Arg1372His					TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.R1372H	p.R1372H							22	4238	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.4115G>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.491408	0.26774	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.90261	-2.64;-2.64	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.80308	0.4599	N	0.05510	-0.035	0.37609	D	0.920853	B	0.02656	0.0	B	0.01281	0.0	T	0.75563	-0.3274	9	0.23302	T	0.38	.	13.0014	0.58679	0.0729:0.0:0.9271:0.0	.	1372	Q9P273	TEN3_HUMAN	H	1372	ENSP00000424226:R1372H;ENSP00000385276:R1372H	ENSP00000385276:R1372H	R	+	2	0	ODZ3	183912629	1.000000	0.71417	0.643000	0.29450	0.899000	0.52679	6.606000	0.74159	2.906000	0.99361	0.655000	0.94253	CGT		0.493	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			5	18	0	0	0	1	0	5	18				
ZFHX3	463	broad.mit.edu	37	16	72827996	72827996	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:72827996G>T	ENST00000268489.5	-	9	9257	c.8585C>A	c.(8584-8586)gCa>gAa	p.A2862E	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.A1948E	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2862					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGTTTCAGTTGCTATTCCCGT	0.498																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(8584-8586)gCa>gAa		zinc finger homeobox 3							280.0	231.0	248.0					16																	72827996		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72827996G>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8585C>A	16.37:g.72827996G>T	ENSP00000268489:p.Ala2862Glu					ZFHX3_ENST00000397992.5_Missense_Mutation_p.A1948E	p.A2862E	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	9257	-		Ovarian(137;0.13)	2862					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.8585C>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	9.172	1.021309	0.19433	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73363	-0.74;-0.73	6.07	5.12	0.69794	.	0.128293	0.34777	N	0.003688	T	0.52306	0.1726	N	0.08118	0	0.34892	D	0.745678	B	0.27559	0.181	B	0.26416	0.069	T	0.58618	-0.7605	10	0.18710	T	0.47	.	10.7999	0.46483	0.1432:0.0:0.8568:0.0	.	2862	Q15911	ZFHX3_HUMAN	E	2862;1948	ENSP00000268489:A2862E;ENSP00000438926:A1948E	ENSP00000268489:A2862E	A	-	2	0	ZFHX3	71385497	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.725000	0.61979	1.584000	0.49913	-0.137000	0.14449	GCA		0.498	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	171	1	0	0.00909568	1	0.00915862	4	171				
METTL25	84190	broad.mit.edu	37	12	82792639	82792639	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:82792639A>G	ENST00000248306.3	+	4	666	c.597A>G	c.(595-597)aaA>aaG	p.K199K	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	199							methyltransferase activity (GO:0008168)										ATGGCTTAAAAGTTTATGGAA	0.338																																						ENST00000248306.3																			0											c.(595-597)aaA>aaG		methyltransferase like 25							43.0	43.0	43.0					12																	82792639		2203	4299	6502	SO:0001819	synonymous_variant	84190							g.chr12:82792639A>G	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.597A>G	12.37:g.82792639A>G						METTL25_ENST00000547357.1_3'UTR	p.K199K	NM_032230.2	NP_115606.2					4	666	+								Q9H5Y3	Silent	SNP	ENST00000248306.3	37	c.597A>G	CCDS9024.1	.	.	.	.	.	.	.	.	.	.	A	8.926	0.962211	0.18583	.	.	ENSG00000127720	ENST00000550058	T	0.25749	1.78	5.43	-3.54	0.04653	.	0.302123	0.41097	D	0.000959	T	0.16471	0.0396	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.14144	-1.0483	7	0.29301	T	0.29	-0.2711	0.3638	0.00368	0.3424:0.2141:0.1301:0.3134	.	.	.	.	R	158	ENSP00000450317:K158R	ENSP00000450317:K158R	K	+	2	0	C12orf26	81316770	1.000000	0.71417	0.823000	0.32752	0.989000	0.77384	1.171000	0.31896	-0.491000	0.06697	0.477000	0.44152	AAG		0.338	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		9	44	0	0	0	1	0	9	44				
UTP15	84135	broad.mit.edu	37	5	72868354	72868354	+	Silent	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:72868354A>T	ENST00000296792.4	+	7	969	c.714A>T	c.(712-714)ggA>ggT	p.G238G	UTP15_ENST00000543251.1_Silent_p.G48G|UTP15_ENST00000508491.1_Silent_p.G219G	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	238					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TAAAAGGAGGACAATTGCTAG	0.383																																						ENST00000296792.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15						c.(712-714)ggA>ggT		UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)							215.0	219.0	217.0					5																	72868354		2203	4300	6503	SO:0001819	synonymous_variant	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72868354A>T	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.714A>T	5.37:g.72868354A>T						UTP15_ENST00000543251.1_Silent_p.G48G|UTP15_ENST00000508491.1_Silent_p.G219G	p.G238G	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	7	969	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	238					B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Silent	SNP	ENST00000296792.4	37	c.714A>T	CCDS34186.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.578309	0.28180	.	.	ENSG00000164338	ENST00000509005	.	.	.	5.79	3.27	0.37495	.	.	.	.	.	T	0.54029	0.1833	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44651	-0.9314	4	.	.	.	.	5.4197	0.16394	0.6547:0.1375:0.2078:0.0	.	.	.	.	V	265	.	.	D	+	2	0	UTP15	72904110	0.933000	0.31639	1.000000	0.80357	0.989000	0.77384	0.103000	0.15292	0.380000	0.24823	0.533000	0.62120	GAC		0.383	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		55	177	0	0	0	1	0	55	177				
MAP1S	55201	broad.mit.edu	37	19	17835879	17835879	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17835879C>A	ENST00000324096.4	+	4	476	c.325C>A	c.(325-327)Cct>Act	p.P109T	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.P83T|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	109	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCTGTTGGACCCTGCCTCTCA	0.607																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(325-327)Cct>Act		microtubule-associated protein 1S							113.0	110.0	111.0					19																	17835879		2203	4300	6503	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17835879C>A	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.325C>A	19.37:g.17835879C>A	ENSP00000325313:p.Pro109Thr					MAP1S_ENST00000544059.2_Missense_Mutation_p.P83T|MAP1S_ENST00000597681.1_Intron	p.P109T	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			4	476	+			109			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.325C>A	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326664	0.24080	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.03301	3.98;3.98	4.44	3.4	0.38934	.	0.129976	0.35466	N	0.003186	T	0.02929	0.0087	L	0.39397	1.21	0.25875	N	0.983662	B;B;B	0.28998	0.007;0.007;0.23	B;B;B	0.25140	0.01;0.01;0.058	T	0.41448	-0.9508	10	0.10377	T	0.69	-17.4699	7.3679	0.26783	0.0:0.8802:0.0:0.1198	.	83;109;109	B4DH53;A8K940;Q66K74	.;.;MAP1S_HUMAN	T	109;83	ENSP00000325313:P109T;ENSP00000439243:P83T	ENSP00000325313:P109T	P	+	1	0	MAP1S	17696879	0.006000	0.16342	0.999000	0.59377	0.949000	0.60115	0.742000	0.26216	2.014000	0.59158	0.491000	0.48974	CCT		0.607	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		51	116	1	0	5.12918e-33	1	5.43649e-33	51	116				
MYO5A	4644	broad.mit.edu	37	15	52609406	52609406	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:52609406G>A	ENST00000399231.3	-	39	5416	c.5173C>T	c.(5173-5175)Caa>Taa	p.Q1725*	MYO5A_ENST00000356338.6_Nonsense_Mutation_p.Q1698*|MYO5A_ENST00000553916.1_Nonsense_Mutation_p.Q1723*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.Q1722*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.Q1750*	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1725	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCTTCCAGTTGACTGACATTG	0.388																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(5173-5175)Caa>Taa		myosin VA (heavy chain 12, myoxin)							81.0	74.0	76.0					15																	52609406		1838	4089	5927	SO:0001587	stop_gained	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52609406G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.5173C>T	15.37:g.52609406G>A	ENSP00000382177:p.Gln1725*					MYO5A_ENST00000553916.1_Nonsense_Mutation_p.Q1723*|MYO5A_ENST00000356338.6_Nonsense_Mutation_p.Q1698*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.Q1722*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.Q1750*	p.Q1725*	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	39	5416	-			1725			Dilute.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Nonsense_Mutation	SNP	ENST00000399231.3	37	c.5173C>T	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	45	11.539642	0.99573	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.9462	0.97183	0.0:0.0:1.0:0.0	.	.	.	.	X	1725;1232;1722;1698;1750;1328;1723	.	ENSP00000348693:Q1698X	Q	-	1	0	MYO5A	50396698	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.025000	0.88777	2.717000	0.92951	0.585000	0.79938	CAA		0.388	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		15	32	0	0	0	1	0	15	32				
RANBP10	57610	broad.mit.edu	37	16	67761766	67761766	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67761766C>T	ENST00000317506.3	-	12	1623	c.1508G>A	c.(1507-1509)gGc>gAc	p.G503D	RANBP10_ENST00000411657.2_Missense_Mutation_p.G416D|RANBP10_ENST00000448631.2_Missense_Mutation_p.G477D|RANBP10_ENST00000602677.1_Missense_Mutation_p.G533D|RANBP10_ENST00000536251.1_Missense_Mutation_p.G274D	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	503					microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		AGCCTGGTTGCCCCCGCAGAG	0.597																																						ENST00000317506.3																			0				endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(1507-1509)gGc>gAc		RAN binding protein 10							40.0	36.0	37.0					16																	67761766		2198	4300	6498	SO:0001583	missense	57610							g.chr16:67761766C>T	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1508G>A	16.37:g.67761766C>T	ENSP00000316589:p.Gly503Asp					RANBP10_ENST00000411657.2_Missense_Mutation_p.G416D|RANBP10_ENST00000536251.1_Missense_Mutation_p.G274D|RANBP10_ENST00000602677.1_Missense_Mutation_p.G533D|RANBP10_ENST00000448631.2_Missense_Mutation_p.G477D	p.G503D	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	12	1623	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	503					A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	c.1508G>A	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206455	0.95033	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.82453	0.5040	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.80178	-0.1490	9	0.40728	T	0.16	-15.8098	19.9313	0.97120	0.0:1.0:0.0:0.0	.	416;477;503	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	D	503;477;274;416	.	ENSP00000316589:G503D	G	-	2	0	RANBP10	66319267	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.687000	0.84139	2.814000	0.96858	0.563000	0.77884	GGC		0.597	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		14	41	0	0	0	1	0	14	41				
MYO9A	4649	broad.mit.edu	37	15	72189934	72189934	+	Nonsense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:72189934G>C	ENST00000356056.5	-	25	5382	c.4910C>G	c.(4909-4911)tCa>tGa	p.S1637*	MYO9A_ENST00000566885.1_Nonsense_Mutation_p.S1257*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.S1618*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.S1637*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.S1637*|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1637	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCGATTATTTGAGAGTTTACA	0.418																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(4909-4911)tCa>tGa		myosin IXA							154.0	138.0	143.0					15																	72189934		2199	4297	6496	SO:0001587	stop_gained	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72189934G>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4910C>G	15.37:g.72189934G>C	ENSP00000348349:p.Ser1637*					MYO9A_ENST00000424560.1_Nonsense_Mutation_p.S1637*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.S1618*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.S1257*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.S1637*	p.S1637*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			25	5382	-			1637			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Nonsense_Mutation	SNP	ENST00000356056.5	37	c.4910C>G	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290143	0.80914	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	.	.	.	5.19	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	7.8107	0.29230	0.0753:0.0:0.6344:0.2903	.	.	.	.	X	1637;1637;1618	.	ENSP00000348349:S1637X	S	-	2	0	MYO9A	69976988	0.208000	0.23494	0.041000	0.18516	0.991000	0.79684	2.184000	0.42575	0.774000	0.33427	0.650000	0.86243	TCA		0.418	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		19	76	0	0	0	1	0	19	76				
ZNF354B	117608	broad.mit.edu	37	5	178310261	178310261	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:178310261T>C	ENST00000322434.3	+	5	1034	c.808T>C	c.(808-810)Tat>Cat	p.Y270H	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGAAACCCTATATATGTAA	0.353																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(808-810)Tat>Cat		zinc finger protein 354B							59.0	65.0	63.0					5																	178310261		2202	4300	6502	SO:0001583	missense	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310261T>C	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.808T>C	5.37:g.178310261T>C	ENSP00000327143:p.Tyr270His						p.Y270H	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1034	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	270					A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	c.808T>C	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.240021	0.39598	.	.	ENSG00000178338	ENST00000322434	T	0.67345	-0.26	3.54	3.54	0.40534	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52092	0.1713	N	0.21097	0.63	0.24734	N	0.993078	P	0.35700	0.516	B	0.35312	0.2	T	0.49854	-0.8895	9	0.72032	D	0.01	-11.9176	10.0737	0.42347	0.0:0.0:0.0:1.0	.	270	Q96LW1	Z354B_HUMAN	H	270	ENSP00000327143:Y270H	ENSP00000327143:Y270H	Y	+	1	0	ZNF354B	178242867	0.006000	0.16342	0.325000	0.25375	0.821000	0.46438	1.685000	0.37659	1.470000	0.48102	0.459000	0.35465	TAT		0.353	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		35	98	0	0	0	1	0	35	98				
ILVBL	10994	broad.mit.edu	37	19	15230010	15230010	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:15230010C>T	ENST00000263383.3	-	9	1157	c.1018G>A	c.(1018-1020)Gcc>Acc	p.A340T	ILVBL_ENST00000534378.1_Missense_Mutation_p.A233T|ILVBL_ENST00000531635.1_5'Flank	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	340						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TTCTTCAGGGCCGCACTGCGG	0.632																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(1018-1020)Gcc>Acc		ilvB (bacterial acetolactate synthase)-like							68.0	62.0	64.0					19																	15230010		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15230010C>T	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1018G>A	19.37:g.15230010C>T	ENSP00000263383:p.Ala340Thr					ILVBL_ENST00000534378.1_Missense_Mutation_p.A233T	p.A340T	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			9	1157	-			340					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.1018G>A	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537161	0.65085	.	.	ENSG00000105135	ENST00000263383	T	0.55052	0.54	5.31	4.27	0.50696	Thiamine pyrophosphate enzyme, central domain (1);	0.000000	0.85682	D	0.000000	T	0.65698	0.2716	M	0.89163	3.01	0.58432	D	0.999999	P	0.48694	0.914	P	0.48901	0.594	T	0.72144	-0.4379	10	0.59425	D	0.04	-18.0255	11.8423	0.52361	0.0:0.9139:0.0:0.0861	.	340	A1L0T0	ILVBL_HUMAN	T	340	ENSP00000263383:A340T	ENSP00000263383:A340T	A	-	1	0	ILVBL	15091010	0.996000	0.38824	0.829000	0.32907	0.084000	0.17831	3.427000	0.52785	1.235000	0.43724	0.561000	0.74099	GCC		0.632	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		5	100	0	0	0	1	0	5	100				
PRDM15	63977	broad.mit.edu	37	21	43242348	43242348	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:43242348T>C	ENST00000269844.3	-	22	3015	c.2905A>G	c.(2905-2907)Aag>Gag	p.K969E	PRDM15_ENST00000538201.1_Missense_Mutation_p.K623E|PRDM15_ENST00000422911.1_Missense_Mutation_p.K660E|PRDM15_ENST00000398548.1_Missense_Mutation_p.K640E|PRDM15_ENST00000447207.2_Missense_Mutation_p.K603E	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	969					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ATCCCGATCTTGCCGATAAAC	0.547																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(1978-1980)Aag>Gag		PR domain containing 15							152.0	135.0	141.0					21																	43242348		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43242348T>C	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.2905A>G	21.37:g.43242348T>C	ENSP00000269844:p.Lys969Glu					PRDM15_ENST00000538201.1_Missense_Mutation_p.K623E|PRDM15_ENST00000269844.3_Missense_Mutation_p.K969E|PRDM15_ENST00000447207.2_Missense_Mutation_p.K603E|PRDM15_ENST00000398548.1_Missense_Mutation_p.K640E	p.K660E			P57071	PRD15_HUMAN			16	2079	-			969					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.1978A>G	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	t	15.94	2.980203	0.53827	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.08546	3.11;3.11;3.13;3.11;3.08	4.83	4.83	0.62350	.	.	.	.	.	T	0.15349	0.0370	N	0.19112	0.55	0.48395	D	0.999649	D;P;D	0.76494	0.991;0.944;0.999	P;P;D	0.68353	0.782;0.523;0.957	T	0.04870	-1.0921	9	0.66056	D	0.02	-39.8096	13.8984	0.63787	0.0:0.0:0.0:1.0	.	969;660;640	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	E	660;640;623;603;969	ENSP00000408592:K660E;ENSP00000381556:K640E;ENSP00000444044:K623E;ENSP00000390245:K603E;ENSP00000269844:K969E	ENSP00000269844:K969E	K	-	1	0	PRDM15	42115417	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	5.878000	0.69682	1.940000	0.56252	0.529000	0.55759	AAG		0.547	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		5	122	0	0	0	1	0	5	122				
RAB19	401409	broad.mit.edu	37	7	140110805	140110805	+	Intron	SNP	T	T	C	rs376397060		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:140110805T>C	ENST00000356407.3	+	2	269				RAB19_ENST00000275874.5_Silent_p.S78S|RAB19_ENST00000537763.1_Intron			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family						protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CCTTTGCCAGTATTCAGATCC	0.423																																						ENST00000275874.5																			0				breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						c.(232-234)agT>agC		RAB19, member RAS oncogene family		T		0,4406		0,0,2203	185.0	181.0	182.0			-2.1	0.0	7		182	2,8598	2.2+/-6.3	0,2,4298	no	intron	RAB19	NM_001008749.2		0,2,6501	CC,CT,TT		0.0233,0.0,0.0154			140110805	2,13004	2203	4300	6503	SO:0001627	intron_variant	401409				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr7:140110805T>C		CCDS34762.1, CCDS34762.2	7q34	2014-05-09			ENSG00000146955	ENSG00000146955		"""RAB, member RAS oncogene"""	19982	protein-coding gene	gene with protein product							Standard	NM_001008749		Approved	RAB19B	uc010lni.2	A4D1S5	OTTHUMG00000157410	ENST00000356407.3:c.202-869T>C	7.37:g.140110805T>C						RAB19_ENST00000537763.1_Intron|RAB19_ENST00000356407.3_Intron	p.S78S			A4D1S5	RAB19_HUMAN			3	432	+	Melanoma(164;0.0142)		67					A4D1S6|B2RTS6|B5MDR2|Q9UL27	Silent	SNP	ENST00000356407.3	37	c.234T>C	CCDS34762.2																																																																																				0.423	RAB19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348740.1			6	314	0	0	0	1	0	6	314				
C9	735	broad.mit.edu	37	5	39331791	39331791	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:39331791G>A	ENST00000263408.4	-	5	697	c.602C>T	c.(601-603)tCt>tTt	p.S201F	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	201	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ATAGATCAAAGAAGCCACGTT	0.398																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(601-603)tCt>tTt		complement component 9							135.0	131.0	132.0					5																	39331791		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39331791G>A		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.602C>T	5.37:g.39331791G>A	ENSP00000263408:p.Ser201Phe					C9_ENST00000509186.1_5'UTR	p.S201F	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		5	697	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	201			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.602C>T	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	G	7.720	0.696906	0.15106	.	.	ENSG00000113600	ENST00000263408	T	0.32272	1.46	5.52	-0.561	0.11785	Membrane attack complex component/perforin (MACPF) domain (1);	0.642150	0.16439	N	0.214373	T	0.18800	0.0451	L	0.44542	1.39	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.32052	-0.9921	10	0.11485	T	0.65	-1.2205	5.6633	0.17680	0.4241:0.0:0.4501:0.1258	.	201	P02748	CO9_HUMAN	F	201	ENSP00000263408:S201F	ENSP00000263408:S201F	S	-	2	0	C9	39367548	0.000000	0.05858	0.000000	0.03702	0.425000	0.31504	-0.010000	0.12743	-0.182000	0.10602	0.561000	0.74099	TCT		0.398	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			35	80	0	0	0	1	0	35	80				
USP43	124739	broad.mit.edu	37	17	9631694	9631694	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:9631694G>A	ENST00000285199.7	+	15	2855	c.2759G>A	c.(2758-2760)gGg>gAg	p.G920E	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.G915E	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	920					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GAAAATGCAGGGCAGGACATC	0.572																																						ENST00000570827.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						c.(1825-1827)gGg>gAg		ubiquitin specific peptidase 43							25.0	27.0	26.0					17																	9631694		1974	4161	6135	SO:0001583	missense	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9631694G>A	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2759G>A	17.37:g.9631694G>A	ENSP00000285199:p.Gly920Glu					USP43_ENST00000285199.6_Missense_Mutation_p.G920E|USP43_ENST00000570475.1_Missense_Mutation_p.G915E	p.G609E			Q70EL4	UBP43_HUMAN			15	2900	+			920					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	c.1826G>A	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613320	0.28712	.	.	ENSG00000154914	ENST00000285199	T	0.09255	3.0	5.4	3.43	0.39272	.	10.991400	0.00166	N	0.000000	T	0.07954	0.0199	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.32245	0.361;0.011;0.049;0.066	B;B;B;B	0.25140	0.058;0.014;0.024;0.023	T	0.24693	-1.0153	10	0.56958	D	0.05	-0.5495	6.6413	0.22911	0.0885:0.0:0.7346:0.1769	.	915;609;920;432	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	E	920	ENSP00000285199:G920E	ENSP00000285199:G920E	G	+	2	0	USP43	9572419	0.144000	0.22641	0.002000	0.10522	0.008000	0.06430	1.286000	0.33273	0.841000	0.35020	-0.152000	0.13540	GGG		0.572	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		3	27	0	0	0	1	0	3	27				
UBR5	51366	broad.mit.edu	37	8	103359222	103359222	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:103359222C>T	ENST00000520539.1	-	6	1091	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	UBR5_ENST00000521922.1_Missense_Mutation_p.R162Q|UBR5_ENST00000220959.4_Missense_Mutation_p.R162Q	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	162					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCGTCCTGTCCGAATAACTCG	0.567																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(484-486)cGg>cAg		ubiquitin protein ligase E3 component n-recognin 5							108.0	116.0	113.0					8																	103359222		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103359222C>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.485G>A	8.37:g.103359222C>T	ENSP00000429084:p.Arg162Gln					UBR5_ENST00000521922.1_Missense_Mutation_p.R162Q|UBR5_ENST00000220959.4_Missense_Mutation_p.R162Q	p.R162Q	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		6	1091	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		162					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.485G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029328	0.93518	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.48836	0.81;0.81;0.8	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.59676	0.2211	L	0.38838	1.175	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.64042	0.921;0.921	T	0.55464	-0.8137	10	0.42905	T	0.14	.	19.9969	0.97387	0.0:1.0:0.0:0.0	.	162;162	E7EMW7;O95071	.;UBR5_HUMAN	Q	162	ENSP00000429084:R162Q;ENSP00000220959:R162Q;ENSP00000427819:R162Q	ENSP00000220959:R162Q	R	-	2	0	UBR5	103428398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.801000	0.96364	0.655000	0.94253	CGG		0.567	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		67	208	0	0	0	1	0	67	208				
FLG	2312	broad.mit.edu	37	1	152283110	152283110	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:152283110G>A	ENST00000368799.1	-	3	4287	c.4252C>T	c.(4252-4254)Ccc>Tcc	p.P1418S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1418	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)			TGCTGATGGGGCCCAGCTTGT	0.562									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.(4252-4254)Ccc>Tcc		filaggrin							223.0	221.0	222.0					1																	152283110		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283110G>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.4252C>T	1.37:g.152283110G>A	ENSP00000357789:p.Pro1418Ser					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.P1418S	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4287	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1418			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4252C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	5.858	0.342562	0.11069	.	.	ENSG00000143631	ENST00000368799	T	0.00986	5.47	3.17	-6.35	0.01975	.	.	.	.	.	T	0.00144	0.0004	N	0.11341	0.13	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.44847	-0.9301	9	0.02654	T	1	.	5.7125	0.17943	0.3333:0.522:0.1447:0.0	.	1418	P20930	FILA_HUMAN	S	1418	ENSP00000357789:P1418S	ENSP00000357789:P1418S	P	-	1	0	FLG	150549734	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.197000	0.09518	-0.674000	0.05253	0.556000	0.70494	CCC		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		10	475	0	0	0	1	0	10	475				
NEB	4703	broad.mit.edu	37	2	152417174	152417174	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:152417174T>C	ENST00000172853.10	-	96	14290	c.14143A>G	c.(14143-14145)Agc>Ggc	p.S4715G	NEB_ENST00000397345.3_Missense_Mutation_p.S6416G|NEB_ENST00000409198.1_Missense_Mutation_p.S4715G|NEB_ENST00000427231.2_Missense_Mutation_p.S6416G|NEB_ENST00000604864.1_Missense_Mutation_p.S6416G|NEB_ENST00000603639.1_Missense_Mutation_p.S6416G			P20929	NEBU_HUMAN	nebulin	4715					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGATGTAGCTGGTGGCTTTC	0.478																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(19246-19248)Agc>Ggc		nebulin							127.0	131.0	130.0					2																	152417174		2024	4194	6218	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152417174T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.14143A>G	2.37:g.152417174T>C	ENSP00000172853:p.Ser4715Gly					NEB_ENST00000409198.1_Missense_Mutation_p.S4715G|NEB_ENST00000172853.10_Missense_Mutation_p.S4715G|NEB_ENST00000427231.2_Missense_Mutation_p.S6416G|NEB_ENST00000603639.1_Missense_Mutation_p.S6416G|NEB_ENST00000604864.1_Missense_Mutation_p.S6416G	p.S6416G	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	124	19448	-			6415					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.19246A>G		.	.	.	.	.	.	.	.	.	.	T	16.88	3.245639	0.59103	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.13538	2.7;2.58;2.58;2.67;2.7	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.29256	0.0728	L	0.55103	1.725	0.80722	D	1	D;D	0.65815	0.995;0.964	D;D	0.77004	0.989;0.958	T	0.05178	-1.0901	10	0.11182	T	0.66	.	15.0491	0.71850	0.0:0.0:0.0:1.0	.	4715;1146	P20929;Q14215	NEBU_HUMAN;.	G	4715;6416;6416;764;1146;4715	ENSP00000386259:S4715G;ENSP00000380505:S6416G;ENSP00000416578:S6416G;ENSP00000410961:S1146G;ENSP00000172853:S4715G	ENSP00000172853:S4715G	S	-	1	0	NEB	152125420	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.021000	0.41020	2.015000	0.59207	0.459000	0.35465	AGC		0.478	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		8	16	0	0	0	1	0	8	16				
WTAP	9589	broad.mit.edu	37	6	160176433	160176433	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:160176433T>C	ENST00000358372.4	+	8	2738	c.981T>C	c.(979-981)ggT>ggC	p.G327G	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	327					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GAGGTAGTGGTTACGTAAATC	0.493																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(979-981)ggT>ggC		Wilms tumor 1 associated protein							111.0	101.0	104.0					6																	160176433		2203	4300	6503	SO:0001819	synonymous_variant	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160176433T>C	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.981T>C	6.37:g.160176433T>C						SOD2_ENST00000546087.1_Intron	p.G327G	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	8	2738	+		Breast(66;0.000776)|Ovarian(120;0.0303)	327					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Silent	SNP	ENST00000358372.4	37	c.981T>C	CCDS5266.1																																																																																				0.493	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		19	80	0	0	0	1	0	19	80				
NDNL2	56160	broad.mit.edu	37	15	29561504	29561504	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:29561504A>G	ENST00000332303.4	-	1	529	c.406T>C	c.(406-408)Tac>Cac	p.Y136H	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	136	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CCGAAGACGTACTGGAGGCGC	0.567																																						ENST00000332303.4																			0				breast(3)|large_intestine(2)|lung(3)	8						c.(406-408)Tac>Cac		necdin-like 2							75.0	72.0	73.0					15																	29561504		2203	4300	6503	SO:0001583	missense	56160				regulation of growth	cytoplasm|nucleus		g.chr15:29561504A>G	AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.406T>C	15.37:g.29561504A>G	ENSP00000330694:p.Tyr136His					FAM189A1_ENST00000261275.4_Intron	p.Y136H	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	529	-		all_lung(180;4.69e-11)|Breast(32;0.0013)	136			MAGE.		Q8IW16|Q8TEI6|Q9H214	Missense_Mutation	SNP	ENST00000332303.4	37	c.406T>C	CCDS10023.1	.	.	.	.	.	.	.	.	.	.	A	16.29	3.082719	0.55861	.	.	ENSG00000185115	ENST00000332303	T	0.04654	3.58	3.8	2.63	0.31362	.	0.304318	0.30528	U	0.009421	T	0.06416	0.0165	L	0.48362	1.52	0.29746	N	0.83676	B	0.24882	0.113	B	0.34301	0.179	T	0.08310	-1.0728	10	0.87932	D	0	.	7.184	0.25789	0.7715:0.2285:0.0:0.0	.	136	Q96MG7	MAGG1_HUMAN	H	136	ENSP00000330694:Y136H	ENSP00000330694:Y136H	Y	-	1	0	NDNL2	27348796	1.000000	0.71417	0.848000	0.33437	0.993000	0.82548	0.970000	0.29383	0.762000	0.33152	0.460000	0.39030	TAC		0.567	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1	NM_138704		25	52	0	0	0	1	0	25	52				
UBN2	254048	broad.mit.edu	37	7	138967993	138967993	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:138967993A>G	ENST00000473989.3	+	15	2342	c.2342A>G	c.(2341-2343)aAc>aGc	p.N781S	UBN2_ENST00000288561.8_Missense_Mutation_p.N698S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	781						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AACAATGGGAACAAGGGCCCT	0.463																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(2092-2094)aAc>aGc		ubinuclein 2							120.0	118.0	118.0					7																	138967993		1922	4131	6053	SO:0001583	missense	254048							g.chr7:138967993A>G	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2342A>G	7.37:g.138967993A>G	ENSP00000418648:p.Asn781Ser					UBN2_ENST00000473989.2_Missense_Mutation_p.N781S	p.N698S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			15	2342	+			781					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.2093A>G	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	A	1.608	-0.524877	0.04141	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.30182	1.54;1.59	5.76	2.24	0.28232	.	0.379740	0.28182	N	0.016286	T	0.14874	0.0359	N	0.16478	0.41	0.31511	N	0.663511	B	0.12013	0.005	B	0.11329	0.006	T	0.19128	-1.0315	10	0.17369	T	0.5	-7.0	6.1345	0.20223	0.4553:0.3606:0.184:0.0	.	781	Q6ZU65	UBN2_HUMAN	S	781;698	ENSP00000418648:N781S;ENSP00000288561:N698S	ENSP00000288561:N698S	N	+	2	0	UBN2	138618533	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	2.392000	0.44433	0.472000	0.27344	0.383000	0.25322	AAC		0.463	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		4	168	0	0	0	1	0	4	168				
SORCS1	114815	broad.mit.edu	37	10	108589383	108589383	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:108589383A>G	ENST00000263054.6	-	3	682	c.675T>C	c.(673-675)ggT>ggC	p.G225G	SORCS1_ENST00000344440.6_Silent_p.G225G	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	225					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGGTTTTCAAACCAACTTTAT	0.368																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(673-675)ggT>ggC		sortilin-related VPS10 domain containing receptor 1							179.0	163.0	168.0					10																	108589383		2203	4300	6503	SO:0001819	synonymous_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108589383A>G	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.675T>C	10.37:g.108589383A>G						SORCS1_ENST00000344440.6_Silent_p.G225G	p.G225G	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	3	682	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	225					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	c.675T>C	CCDS7559.1																																																																																				0.368	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		27	63	0	0	0	1	0	27	63				
FNIP2	57600	broad.mit.edu	37	4	159790348	159790348	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:159790348G>A	ENST00000264433.6	+	13	2635	c.2560G>A	c.(2560-2562)Gcc>Acc	p.A854T	FNIP2_ENST00000379346.3_Missense_Mutation_p.A877T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	854	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GGAGCCTGTTGCCCCCAGGTG	0.617																																						ENST00000264433.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(2560-2562)Gcc>Acc		folliculin interacting protein 2							47.0	51.0	49.0					4																	159790348		2043	4208	6251	SO:0001583	missense	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159790348G>A	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2560G>A	4.37:g.159790348G>A	ENSP00000264433:p.Ala854Thr					FNIP2_ENST00000379346.3_Missense_Mutation_p.A877T	p.A854T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	13	2635	+	all_hematologic(180;0.24)		854			Interaction with PRKAA1.		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	c.2560G>A	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	G	9.615	1.132376	0.21041	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.22539	1.96;1.95	5.5	-0.781	0.10965	.	0.924162	0.09348	N	0.814545	T	0.12305	0.0299	N	0.22421	0.69	0.09310	N	1	B	0.25904	0.137	B	0.25140	0.058	T	0.37709	-0.9694	9	.	.	.	.	7.204	0.25897	0.0996:0.2148:0.5545:0.1311	.	854	Q9P278	FNIP2_HUMAN	T	854;877	ENSP00000264433:A854T;ENSP00000368651:A877T	.	A	+	1	0	FNIP2	160009798	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.001000	0.13038	-0.430000	0.07318	-0.955000	0.02649	GCC		0.617	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		4	123	0	0	0	1	0	4	123				
FAT2	2196	broad.mit.edu	37	5	150923823	150923823	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:150923823T>C	ENST00000261800.5	-	9	6877	c.6865A>G	c.(6865-6867)Acc>Gcc	p.T2289A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2289	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCACAGGGGTCTGAGCAGGC	0.502																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(6865-6867)Acc>Gcc		FAT atypical cadherin 2							104.0	103.0	104.0					5																	150923823		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150923823T>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6865A>G	5.37:g.150923823T>C	ENSP00000261800:p.Thr2289Ala						p.T2289A	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6877	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2289			Cadherin 20.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.6865A>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.580630	0.65992	.	.	ENSG00000086570	ENST00000261800	T	0.57107	0.42	5.68	5.68	0.88126	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.67804	0.2932	M	0.62088	1.915	0.58432	D	0.999998	D	0.67145	0.996	D	0.63192	0.912	T	0.68432	-0.5410	10	0.46703	T	0.11	.	15.938	0.79729	0.0:0.0:0.0:1.0	.	2289	Q9NYQ8	FAT2_HUMAN	A	2289	ENSP00000261800:T2289A	ENSP00000261800:T2289A	T	-	1	0	FAT2	150904016	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.967000	0.87967	2.167000	0.68274	0.459000	0.35465	ACC		0.502	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		10	128	0	0	0	1	0	10	128				
RAP1GAP	5909	broad.mit.edu	37	1	21936761	21936761	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:21936761C>T	ENST00000374765.4	-	14	1051	c.851G>A	c.(850-852)cGg>cAg	p.R284Q	RAP1GAP_ENST00000542643.2_Missense_Mutation_p.R284Q|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.R348Q|RAP1GAP_ENST00000374757.3_5'Flank|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.R284Q|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.R315Q	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	284	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GTGCCGCTTCCGCTGCAACTG	0.617																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(850-852)cGg>cAg		RAP1 GTPase activating protein							89.0	69.0	76.0					1																	21936761		2203	4300	6503	SO:0001583	missense	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21936761C>T	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.851G>A	1.37:g.21936761C>T	ENSP00000363897:p.Arg284Gln					RAP1GAP_ENST00000374761.2_Missense_Mutation_p.R315Q|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.R348Q|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.R284Q|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.R284Q	p.R284Q	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	15	1153	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	284			Rap-GAP.		J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.851G>A	CCDS218.1	.	.	.	.	.	.	.	.	.	.	C	36	5.822176	0.96989	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92	5.36	5.36	0.76844	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.97629	0.9223	M	0.90542	3.125	0.80722	D	1	B;B;P;B	0.49961	0.292;0.192;0.93;0.192	P;B;P;B	0.56700	0.508;0.167;0.804;0.167	D	0.98091	1.0409	10	0.62326	D	0.03	-7.7763	16.9622	0.86275	0.0:1.0:0.0:0.0	.	284;284;314;284	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	Q	348;315;284;284;314;284	ENSP00000290101:R348Q;ENSP00000363893:R315Q;ENSP00000441661:R284Q;ENSP00000363897:R284Q	ENSP00000290101:R348Q	R	-	2	0	RAP1GAP	21809348	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.732000	0.84908	2.688000	0.91661	0.561000	0.74099	CGG		0.617	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		18	72	0	0	0	1	0	18	72				
IGKC	3514	broad.mit.edu	37	2	89156999	89156999	+	RNA	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:89156999T>C	ENST00000390237.2	-	0	197				AC096579.13_ENST00000452230.1_RNA|AC096579.7_ENST00000430694.1_RNA			P01834	IGKC_HUMAN	immunoglobulin kappa constant						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CTGCTGAGGCTGTAGGTGCTG	0.567																																						ENST00000452230.1																			0																				97.0	99.0	98.0					2																	89156999		2161	4257	6418			0							g.chr2:89156999T>C	J00241		2p11.2	2013-01-14			ENSG00000211592	ENSG00000211592		"""Immunoglobulins / IGK locus"""	5716	other	immunoglobulin gene		147200				10354514	Standard	NG_000834		Approved	HCAK1		P01834	OTTHUMG00000151684		2.37:g.89156999T>C						IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA								0	39	-									RNA	SNP	ENST00000390237.2	37																																																																																						0.567	IGKC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000323482.1	NG_000834		4	64	0	0	0	1	0	4	64				
CSF2RB	1439	broad.mit.edu	37	22	37319379	37319379	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:37319379T>C	ENST00000403662.3	+	3	392	c.170T>C	c.(169-171)gTc>gCc	p.V57A	CSF2RB_ENST00000406230.1_Missense_Mutation_p.V57A|CSF2RB_ENST00000536485.1_5'Flank|CSF2RB_ENST00000262825.5_Missense_Mutation_p.V57A			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	57					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CAGCGGCTCGTCAACGTGACC	0.642																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(169-171)gTc>gCc		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						64.0	53.0	57.0					22																	37319379		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37319379T>C	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.170T>C	22.37:g.37319379T>C	ENSP00000384053:p.Val57Ala					CSF2RB_ENST00000403662.3_Missense_Mutation_p.V57A|CSF2RB_ENST00000406230.1_Missense_Mutation_p.V57A	p.V57A	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			3	387	+			57					Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.170T>C	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.628041	0.46944	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230	T;T;T	0.72051	-0.62;-0.62;-0.62	3.91	2.86	0.33363	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.510590	0.04720	N	0.419155	T	0.63640	0.2528	L	0.40543	1.245	0.09310	N	0.999998	P;P	0.44986	0.847;0.596	B;B	0.42916	0.402;0.159	T	0.49041	-0.8980	10	0.25751	T	0.34	-9.8884	6.1973	0.20557	0.0:0.1218:0.0:0.8782	.	57;57	P32927-2;P32927	.;IL3RB_HUMAN	A	57	ENSP00000384053:V57A;ENSP00000262825:V57A;ENSP00000385271:V57A	ENSP00000262825:V57A	V	+	2	0	CSF2RB	35649325	0.213000	0.23551	0.004000	0.12327	0.093000	0.18481	2.508000	0.45450	0.485000	0.27652	0.260000	0.18958	GTC		0.642	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		15	41	0	0	0	1	0	15	41				
SLC25A42	284439	broad.mit.edu	37	19	19221656	19221656	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:19221656C>T	ENST00000318596.7	+	8	1079	c.928C>T	c.(928-930)Cag>Tag	p.Q310*		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	310					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			CGACCTCATGCAGATCCTGCT	0.637																																						ENST00000318596.7																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(928-930)Cag>Tag		solute carrier family 25, member 42							63.0	49.0	54.0					19																	19221656		2203	4300	6503	SO:0001587	stop_gained	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19221656C>T		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.928C>T	19.37:g.19221656C>T	ENSP00000326693:p.Gln310*						p.Q310*	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		8	1079	+			310					D2T2J5|O14553|O43378	Nonsense_Mutation	SNP	ENST00000318596.7	37	c.928C>T	CCDS32966.1	.	.	.	.	.	.	.	.	.	.	C	37	6.431216	0.97559	.	.	ENSG00000181035	ENST00000318596	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.94	16.7025	0.85363	0.0:1.0:0.0:0.0	.	.	.	.	X	310	.	ENSP00000326693:Q310X	Q	+	1	0	SLC25A42	19082656	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.988000	0.76212	2.280000	0.76307	0.555000	0.69702	CAG		0.637	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		21	81	0	0	0	1	0	21	81				
ATL2	64225	broad.mit.edu	37	2	38570428	38570428	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:38570428A>G	ENST00000378954.4	-	2	346	c.345T>C	c.(343-345)ctT>ctC	p.L115L	ATL2_ENST00000406122.1_Intron|ATL2_ENST00000539122.1_Intron|ATL2_ENST00000452935.2_Silent_p.L97L|ATL2_ENST00000332337.4_Silent_p.L97L|ATL2_ENST00000486927.1_5'Flank|ATL2_ENST00000402054.1_Intron|ATL2_ENST00000419554.2_Silent_p.L115L|ATL2_ENST00000546051.1_Intron	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	115	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						ACATGTATCTAAGCATGAAGT	0.348																																						ENST00000378954.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(343-345)ctT>ctC		atlastin GTPase 2							66.0	64.0	65.0					2																	38570428		2202	4300	6502	SO:0001819	synonymous_variant	64225				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr2:38570428A>G		CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.345T>C	2.37:g.38570428A>G						ATL2_ENST00000452935.2_Silent_p.L97L|ATL2_ENST00000332337.4_Silent_p.L97L|ATL2_ENST00000546051.1_Intron|ATL2_ENST00000539122.1_Intron|ATL2_ENST00000406122.1_Intron|ATL2_ENST00000402054.1_Intron|ATL2_ENST00000419554.2_Silent_p.L115L	p.L115L	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN			2	346	-			115					B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Silent	SNP	ENST00000378954.4	37	c.345T>C	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	A	8.950	0.967989	0.18659	.	.	ENSG00000119787	ENST00000443098	T	0.65916	-0.18	5.37	2.8	0.32819	.	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64935	-0.6290	7	0.62326	D	0.03	-15.2737	6.5101	0.22216	0.6211:0.3028:0.0761:0.0	.	.	.	.	S	114	ENSP00000410592:L114S	ENSP00000410592:L114S	L	-	2	0	ATL2	38423932	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.392000	0.34486	1.013000	0.39391	0.528000	0.53228	TTA		0.348	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		25	60	0	0	0	1	0	25	60				
ATXN7	6314	broad.mit.edu	37	3	63982054	63982054	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:63982054A>G	ENST00000295900.6	+	12	3106	c.2556A>G	c.(2554-2556)aaA>aaG	p.K852K	ATXN7_ENST00000484332.1_Silent_p.K707K|ATXN7_ENST00000487717.1_Silent_p.K852K|ATXN7_ENST00000538065.1_Silent_p.K852K|ATXN7_ENST00000398590.3_Silent_p.K852K	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	852					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GCAGCAGCAAACCCACAAAGG	0.507																																						ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(2554-2556)aaA>aaG		ataxin 7							75.0	80.0	78.0					3																	63982054		2128	4257	6385	SO:0001819	synonymous_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63982054A>G	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2556A>G	3.37:g.63982054A>G						ATXN7_ENST00000295900.6_Silent_p.K852K|ATXN7_ENST00000487717.1_Silent_p.K852K|ATXN7_ENST00000484332.1_Silent_p.K707K|ATXN7_ENST00000538065.1_Silent_p.K852K	p.K852K	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	12	3109	+		Prostate(884;0.0181)	852					B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Silent	SNP	ENST00000295900.6	37	c.2556A>G	CCDS43102.1																																																																																				0.507	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		10	81	0	0	0	1	0	10	81				
NOL11	25926	broad.mit.edu	37	17	65735667	65735667	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:65735667G>A	ENST00000253247.4	+	16	1993	c.1878G>A	c.(1876-1878)aaG>aaA	p.K626K	NOL11_ENST00000535137.1_Silent_p.K444K|SNORA38B_ENST00000363524.1_RNA	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	626					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTACCTGAAGTGTAGCGAAA	0.338																																						ENST00000253247.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11						c.(1876-1878)aaG>aaA		nucleolar protein 11							111.0	107.0	108.0					17																	65735667		2203	4300	6503	SO:0001819	synonymous_variant	25926					nucleolus		g.chr17:65735667G>A	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.1878G>A	17.37:g.65735667G>A						NOL11_ENST00000535137.1_Silent_p.K444K	p.K626K	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		16	1993	+	all_cancers(12;1.54e-10)		626					B7Z5V9|Q7L5S1|Q9UG18	Silent	SNP	ENST00000253247.4	37	c.1878G>A	CCDS11671.1																																																																																				0.338	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		16	46	0	0	0	1	0	16	46				
CHMP7	91782	broad.mit.edu	37	8	23116637	23116637	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:23116637T>C	ENST00000397677.1	+	9	1766	c.1118T>C	c.(1117-1119)tTa>tCa	p.L373S	CHMP7_ENST00000313219.7_Missense_Mutation_p.L373S|CHMP7_ENST00000520102.1_3'UTR	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	373					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		ACAAATGGCTTAGGTGAGTGG	0.448																																						ENST00000397677.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(1117-1119)tTa>tCa		charged multivesicular body protein 7							147.0	144.0	145.0					8																	23116637		2203	4300	6503	SO:0001583	missense	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23116637T>C	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.1118T>C	8.37:g.23116637T>C	ENSP00000380794:p.Leu373Ser					CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Missense_Mutation_p.L373S	p.L373S	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	9	1766	+		Prostate(55;0.0513)	373					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	ENST00000397677.1	37	c.1118T>C	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	T	7.912	0.736800	0.15574	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.70516	-0.49;-0.49	5.97	5.97	0.96955	.	0.284309	0.33127	N	0.005257	T	0.54711	0.1875	L	0.29908	0.895	0.30253	N	0.793913	B	0.17268	0.021	B	0.21708	0.036	T	0.49634	-0.8919	10	0.08599	T	0.76	4.507	9.724	0.40320	0.0:0.0773:0.0:0.9227	.	373	Q8WUX9	CHMP7_HUMAN	S	373	ENSP00000380794:L373S;ENSP00000324491:L373S	ENSP00000324491:L373S	L	+	2	0	CHMP7	23172582	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.666000	0.54540	2.288000	0.76882	0.533000	0.62120	TTA		0.448	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272		4	186	0	0	0	1	0	4	186				
GTF2I	2969	broad.mit.edu	37	7	74113333	74113333	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:74113333A>C	ENST00000324896.4	+	4	670	c.281A>C	c.(280-282)aAa>aCa	p.K94T	GTF2I_ENST00000346152.4_Missense_Mutation_p.K94T|GTF2I_ENST00000443166.1_Missense_Mutation_p.K94T|GTF2I_ENST00000416070.1_Missense_Mutation_p.K94T|AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000353920.4_Missense_Mutation_p.K94T|AC083884.8_ENST00000450426.2_RNA	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	94					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						CATAAAATGAAATCTACAACC	0.313																																						ENST00000324896.4																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(280-282)aAa>aCa		general transcription factor IIi							38.0	37.0	37.0					7																	74113333		2202	4299	6501	SO:0001583	missense	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74113333A>C	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.281A>C	7.37:g.74113333A>C	ENSP00000322542:p.Lys94Thr					GTF2I_ENST00000443166.1_Missense_Mutation_p.K94T|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000346152.4_Missense_Mutation_p.K94T|GTF2I_ENST00000353920.4_Missense_Mutation_p.K94T|GTF2I_ENST00000416070.1_Missense_Mutation_p.K94T	p.K94T	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN			4	670	+			94					O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	c.281A>C	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300238	0.60195	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070;ENST00000443166;ENST00000432143	T;T;T;T;T	0.48836	1.35;1.36;1.37;1.38;0.8	5.82	4.47	0.54385	.	0.147583	0.46145	D	0.000301	T	0.50188	0.1601	M	0.64997	1.995	0.23936	N	0.99642	B;B;B;B;B;P	0.43938	0.181;0.386;0.081;0.039;0.115;0.822	B;P;B;B;B;P	0.48738	0.031;0.464;0.094;0.047;0.063;0.588	T	0.49835	-0.8897	10	0.56958	D	0.05	-26.5918	6.8416	0.23965	0.7796:0.0:0.0821:0.1382	.	94;94;94;94;94;94	Q499G6;P78347-2;P78347-3;P78347-4;P78347;Q86U51	.;.;.;.;GTF2I_HUMAN;.	T	94;89;94;94;94;94;94	ENSP00000322542:K94T;ENSP00000322671:K94T;ENSP00000322599:K94T;ENSP00000387651:K94T;ENSP00000404240:K94T	ENSP00000322542:K94T	K	+	2	0	GTF2I	73751269	0.988000	0.35896	0.933000	0.37362	0.985000	0.73830	2.596000	0.46205	2.224000	0.72417	0.477000	0.44152	AAA		0.313	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		3	8	0	0	0	1	0	3	8				
DHH	50846	broad.mit.edu	37	12	49485061	49485061	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:49485061A>G	ENST00000266991.2	-	2	721	c.415T>C	c.(415-417)Tca>Cca	p.S139P	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	139					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						TAGTGGAGTGAATCCTGAGCG	0.622																																						ENST00000266991.2																			0				breast(1)|large_intestine(3)|lung(4)	8						c.(415-417)Tca>Cca		desert hedgehog							186.0	139.0	155.0					12																	49485061		2203	4300	6503	SO:0001583	missense	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49485061A>G	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.415T>C	12.37:g.49485061A>G	ENSP00000266991:p.Ser139Pro					RP11-386G11.8_ENST00000553174.1_RNA	p.S139P	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN			2	721	-			139					Q15794	Missense_Mutation	SNP	ENST00000266991.2	37	c.415T>C	CCDS8779.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207041	0.79127	.	.	ENSG00000139549	ENST00000266991	D	0.99582	-6.22	5.27	4.13	0.48395	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.061505	0.64402	N	0.000003	D	0.98845	0.9610	M	0.81341	2.54	0.53688	D	0.999976	B	0.26602	0.154	B	0.25759	0.063	D	0.98977	1.0803	10	0.62326	D	0.03	-4.0786	10.3296	0.43814	0.9207:0.0:0.0793:0.0	.	139	O43323	DHH_HUMAN	P	139	ENSP00000266991:S139P	ENSP00000266991:S139P	S	-	1	0	DHH	47771328	1.000000	0.71417	0.888000	0.34837	0.989000	0.77384	9.333000	0.96459	0.969000	0.38237	0.528000	0.53228	TCA		0.622	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1	NM_021044		45	123	0	0	0	1	0	45	123				
PXN	5829	broad.mit.edu	37	12	120652959	120652959	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:120652959C>T	ENST00000228307.7	-	8	1192	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T	PXN-AS1_ENST00000542265.1_RNA|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000267257.7_Missense_Mutation_p.A365T|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000424649.2_Missense_Mutation_p.A317T|PXN_ENST00000458477.2_Missense_Mutation_p.A184T|PXN_ENST00000536957.1_Missense_Mutation_p.A349T|PXN_ENST00000397506.3_Missense_Mutation_p.A163T	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	351					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGACTGTGGCGACCCCCAGC	0.692																																						ENST00000397506.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(487-489)Gcc>Acc		paxillin							18.0	22.0	20.0					12																	120652959		2169	4271	6440	SO:0001583	missense	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120652959C>T	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1051G>A	12.37:g.120652959C>T	ENSP00000228307:p.Ala351Thr					PXN_ENST00000424649.2_Missense_Mutation_p.A317T|PXN_ENST00000267257.7_Missense_Mutation_p.A365T|PXN_ENST00000458477.2_Missense_Mutation_p.A184T|PXN_ENST00000536957.1_Missense_Mutation_p.A349T|PXN_ENST00000228307.7_Missense_Mutation_p.A351T|PXN_ENST00000538144.1_5'UTR	p.A163T			P49023	PAXI_HUMAN			5	1540	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		351					B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	37	c.487G>A	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952431	0.34471	.	.	ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000397506;ENST00000541856	T;T;T;T;T;T	0.54675	0.56;0.78;0.71;0.78;0.76;0.74	5.06	5.06	0.68205	.	.	.	.	.	T	0.39733	0.1089	N	0.25647	0.755	0.46416	D	0.999039	B;B;B;B	0.30605	0.056;0.287;0.089;0.075	B;B;B;B	0.22601	0.024;0.04;0.018;0.018	T	0.20806	-1.0264	9	0.21014	T	0.42	.	18.4266	0.90611	0.0:1.0:0.0:0.0	.	317;365;163;351	P49023-2;P49023-3;E7EMK8;P49023	.;.;.;PAXI_HUMAN	T	184;351;317;349;365;163;76	ENSP00000395536:A184T;ENSP00000228307:A351T;ENSP00000391283:A317T;ENSP00000443887:A349T;ENSP00000267257:A365T;ENSP00000380643:A163T	ENSP00000228307:A351T	A	-	1	0	PXN	119137342	1.000000	0.71417	0.969000	0.41365	0.686000	0.39977	4.960000	0.63673	2.354000	0.79902	0.551000	0.68910	GCC		0.692	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		13	21	0	0	0	1	0	13	21				
SLC39A7	7922	broad.mit.edu	37	6	33170386	33170386	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:33170386A>G	ENST00000374677.3	+	5	1222	c.849A>G	c.(847-849)acA>acG	p.T283T	RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000374685.4_5'Flank|SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Silent_p.T283T|RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000544186.1_5'Flank|HSD17B8_ENST00000374662.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	283					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AAAAGGAAACAAGAGGGGTTC	0.498																																						ENST00000374677.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(847-849)acA>acG		solute carrier family 39 (zinc transporter), member 7							64.0	65.0	65.0					6																	33170386		1215	2518	3733	SO:0001819	synonymous_variant	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33170386A>G	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.849A>G	6.37:g.33170386A>G						SLC39A7_ENST00000374675.3_Silent_p.T283T|SLC39A7_ENST00000463972.1_3'UTR	p.T283T	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN			5	1222	+			283					B0UXF6|Q5STP8|Q9UIQ0	Silent	SNP	ENST00000374677.3	37	c.849A>G	CCDS43453.1																																																																																				0.498	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		12	37	0	0	0	1	0	12	37				
ASPHD2	57168	broad.mit.edu	37	22	26829974	26829974	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:26829974G>T	ENST00000215906.5	+	2	831	c.393G>T	c.(391-393)caG>caT	p.Q131H		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	131					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						ACAACCTGCAGGAGTACGCCA	0.642																																						ENST00000215906.5																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						c.(391-393)caG>caT		aspartate beta-hydroxylase domain containing 2							45.0	41.0	42.0					22																	26829974		2203	4300	6503	SO:0001583	missense	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26829974G>T	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.393G>T	22.37:g.26829974G>T	ENSP00000215906:p.Gln131His						p.Q131H	NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN			2	831	+			131					B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	c.393G>T	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575241	0.65878	.	.	ENSG00000128203	ENST00000215906	T	0.48522	0.81	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	L	0.54323	1.7	0.58432	D	0.999998	D	0.65815	0.995	D	0.77557	0.99	T	0.55667	-0.8105	10	0.19590	T	0.45	-31.2963	16.5768	0.84704	0.0:0.0:1.0:0.0	.	131	Q6ICH7	ASPH2_HUMAN	H	131	ENSP00000215906:Q131H	ENSP00000215906:Q131H	Q	+	3	2	ASPHD2	25159974	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.628000	0.46477	2.445000	0.82738	0.563000	0.77884	CAG		0.642	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		16	56	1	0	2.23348e-06	1	2.28775e-06	16	56				
PPFIBP1	8496	broad.mit.edu	37	12	27829385	27829385	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:27829385C>T	ENST00000318304.8	+	18	1769	c.1486C>T	c.(1486-1488)Cca>Tca	p.P496S	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.P465S|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.P343S|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.P479S	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	496					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AGAAAGCAGGCCATTTGGGAC	0.557																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(1486-1488)Cca>Tca		PTPRF interacting protein, binding protein 1 (liprin beta 1)							68.0	71.0	70.0					12																	27829385		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27829385C>T	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1486C>T	12.37:g.27829385C>T	ENSP00000314724:p.Pro496Ser					PPFIBP1_ENST00000542629.1_Missense_Mutation_p.P465S|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.P479S|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.P343S	p.P496S	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			18	1769	+	Lung SC(9;0.0873)		496					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.1486C>T	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859537	0.32884	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425;ENST00000537261	T;T;T;T;T	0.27890	1.64;1.66;2.08;2.08;2.08	5.64	0.311	0.15831	.	0.833945	0.09777	U	0.757183	T	0.19087	0.0458	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.001	B;B;B;B	0.09377	0.001;0.001;0.004;0.002	T	0.25433	-1.0132	10	0.02654	T	1	-3.3071	15.2772	0.73750	0.435:0.565:0.0:0.0	.	343;496;479;465	Q86W92-3;Q86W92;Q86W92-2;Q86W92-4	.;LIPB1_HUMAN;.;.	S	327;343;496;465;479;171	ENSP00000444304:P327S;ENSP00000445425:P343S;ENSP00000314724:P496S;ENSP00000443442:P465S;ENSP00000228425:P479S	ENSP00000228425:P479S	P	+	1	0	PPFIBP1	27720652	0.000000	0.05858	0.003000	0.11579	0.209000	0.24338	0.722000	0.25925	0.044000	0.15775	0.655000	0.94253	CCA		0.557	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		64	86	0	0	0	1	0	64	86				
NXF3	56000	broad.mit.edu	37	X	102332636	102332636	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:102332636G>A	ENST00000395065.3	-	18	1591	c.1490C>T	c.(1489-1491)aCc>aTc	p.T497I	NXF3_ENST00000425644.1_Missense_Mutation_p.T169I	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	497					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTGGTGGCTGGTATCCCGCAC	0.577																																						ENST00000395065.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1489-1491)aCc>aTc		nuclear RNA export factor 3							208.0	136.0	160.0					X																	102332636		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102332636G>A	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.1490C>T	X.37:g.102332636G>A	ENSP00000378504:p.Thr497Ile					NXF3_ENST00000497850.1_5'UTR|NXF3_ENST00000425644.1_Missense_Mutation_p.T169I	p.T497I	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN			18	1591	-			497					B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.1490C>T	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384490	0.25031	.	.	ENSG00000147206	ENST00000395065;ENST00000425644	T	0.42131	0.98	4.07	0.941	0.19519	.	1.249730	0.05956	N	0.639794	T	0.30603	0.0770	L	0.34521	1.04	0.18873	N	0.999986	B	0.18610	0.029	B	0.17098	0.017	T	0.23797	-1.0178	10	0.22706	T	0.39	3.2443	6.3745	0.21499	0.4109:0.0:0.5891:0.0	.	497	Q9H4D5	NXF3_HUMAN	I	497;169	ENSP00000378504:T497I	ENSP00000378504:T497I	T	-	2	0	NXF3	102219292	0.814000	0.29104	0.000000	0.03702	0.000000	0.00434	2.670000	0.46833	-0.046000	0.13446	-0.192000	0.12808	ACC		0.577	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		54	56	0	0	0	1	0	54	56				
WDR17	116966	broad.mit.edu	37	4	177046431	177046431	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:177046431A>T	ENST00000280190.4	+	6	943	c.787A>T	c.(787-789)Aat>Tat	p.N263Y	WDR17_ENST00000508596.1_Missense_Mutation_p.N239Y|WDR17_ENST00000507824.2_Missense_Mutation_p.N246Y|WDR17_ENST00000393643.2_Missense_Mutation_p.N239Y			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	263										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AACAACATTTAATCTTCCCAG	0.438																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(715-717)Aat>Tat		WD repeat domain 17							172.0	176.0	175.0					4																	177046431		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177046431A>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.787A>T	4.37:g.177046431A>T	ENSP00000280190:p.Asn263Tyr					WDR17_ENST00000507824.2_Missense_Mutation_p.N246Y|WDR17_ENST00000280190.4_Missense_Mutation_p.N263Y|WDR17_ENST00000508596.1_Missense_Mutation_p.N239Y	p.N239Y	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	5	967	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	263					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.715A>T	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.687011	0.48097	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.67865	-0.29;-0.29;-0.29	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.611017	0.17871	N	0.159174	T	0.60612	0.2282	L	0.51422	1.61	0.38034	D	0.935243	P;P	0.39131	0.661;0.661	B;B	0.33521	0.165;0.165	T	0.68044	-0.5513	10	0.52906	T	0.07	-13.0612	15.3024	0.73962	1.0:0.0:0.0:0.0	.	239;263	E7EQX0;Q8IZU2	.;WDR17_HUMAN	Y	239;239;263;246	ENSP00000422763:N239Y;ENSP00000377258:N239Y;ENSP00000280190:N263Y	ENSP00000280190:N263Y	N	+	1	0	WDR17	177283425	1.000000	0.71417	0.306000	0.25113	0.983000	0.72400	4.165000	0.58196	2.199000	0.70637	0.528000	0.53228	AAT		0.438	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			35	92	0	0	0	1	0	35	92				
SPOCD1	90853	broad.mit.edu	37	1	32267263	32267263	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:32267263A>G	ENST00000360482.2	-	3	1555		c.e3+1		SPOCD1_ENST00000533231.1_Splice_Site|SPOCD1_ENST00000373648.2_Splice_Site|SPOCD1_ENST00000257100.3_Splice_Site	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1						negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GTAAAAACCTACGTAGCACAC	0.507																																						ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.e3+1		SPOC domain containing 1							105.0	108.0	107.0					1																	32267263		2203	4300	6503	SO:0001630	splice_region_variant	90853				transcription, DNA-dependent			g.chr1:32267263A>G	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.1425+1T>C	1.37:g.32267263A>G						SPOCD1_ENST00000533231.1_Splice_Site|SPOCD1_ENST00000257100.3_Splice_Site|SPOCD1_ENST00000373648.2_Splice_Site		NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	3	1555	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)						Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Splice_Site	SNP	ENST00000360482.2	37		CCDS347.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.842661	0.51057	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.28	0.43534	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPOCD1	32039850	1.000000	0.71417	0.996000	0.52242	0.727000	0.41649	3.571000	0.53841	2.191000	0.70037	0.533000	0.62120	.		0.507	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569	Intron	30	97	0	0	0	1	0	30	97				
GPD2	2820	broad.mit.edu	37	2	157406154	157406154	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:157406154T>C	ENST00000310454.6	+	7	1068	c.696T>C	c.(694-696)atT>atC	p.I232I	GPD2_ENST00000409674.1_Silent_p.I232I|GPD2_ENST00000438166.2_Silent_p.I232I|GPD2_ENST00000540309.1_Silent_p.I232I|GPD2_ENST00000409125.4_Silent_p.I5I	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	232					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						ACCTTGCCATTGCTCTGACTG	0.552																																						ENST00000310454.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						c.(694-696)atT>atC		glycerol-3-phosphate dehydrogenase 2 (mitochondrial)							118.0	107.0	110.0					2																	157406154		2203	4300	6503	SO:0001819	synonymous_variant	2820				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity	g.chr2:157406154T>C		CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.696T>C	2.37:g.157406154T>C						GPD2_ENST00000438166.2_Silent_p.I232I|GPD2_ENST00000540309.1_Silent_p.I232I|GPD2_ENST00000409674.1_Silent_p.I232I|GPD2_ENST00000409125.4_Silent_p.I5I	p.I232I	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN			7	1068	+			232					A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Silent	SNP	ENST00000310454.6	37	c.696T>C	CCDS2202.1																																																																																				0.552	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254910.3			16	83	0	0	0	1	0	16	83				
LRIT1	26103	broad.mit.edu	37	10	85992579	85992579	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:85992579A>G	ENST00000372105.3	-	4	997	c.976T>C	c.(976-978)Tac>Cac	p.Y326H		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	326	Ig-like C2-type.					integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TGGCAGATGTAGTCTCCGGAG	0.567																																						ENST00000372105.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(976-978)Tac>Cac		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1							35.0	33.0	34.0					10																	85992579		2203	4300	6503	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:85992579A>G	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.976T>C	10.37:g.85992579A>G	ENSP00000361177:p.Tyr326His						p.Y326H	NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN			4	997	-			326			Ig-like C2-type.		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.976T>C	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.271029	0.80469	.	.	ENSG00000148602	ENST00000372105	T	0.73363	-0.74	5.8	5.8	0.92144	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91942	0.7448	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94955	0.8103	10	0.87932	D	0	.	15.1209	0.72441	1.0:0.0:0.0:0.0	.	326	Q9P2V4	LRIT1_HUMAN	H	326	ENSP00000361177:Y326H	ENSP00000361177:Y326H	Y	-	1	0	LRIT1	85982559	1.000000	0.71417	0.998000	0.56505	0.801000	0.45260	8.962000	0.93254	2.219000	0.72066	0.533000	0.62120	TAC		0.567	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		12	28	0	0	0	1	0	12	28				
CCDC151	115948	broad.mit.edu	37	19	11545754	11545754	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11545754C>G	ENST00000356392.4	-	1	171	c.84G>C	c.(82-84)aaG>aaC	p.K28N	CCDC151_ENST00000586836.1_Intron|PRKCSH_ENST00000591462.1_5'Flank|PRKCSH_ENST00000589838.1_5'Flank|PRKCSH_ENST00000412601.1_5'Flank|PRKCSH_ENST00000587327.1_5'Flank|PRKCSH_ENST00000592741.1_5'Flank|CCDC151_ENST00000545100.1_Intron|PRKCSH_ENST00000252455.2_5'Flank|CCDC151_ENST00000591179.1_Missense_Mutation_p.K28N	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	28										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CCTCCCTGCCCTTGACCCTGG	0.667											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356392.4																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						c.(82-84)aaG>aaC		coiled-coil domain containing 151							48.0	52.0	51.0					19																	11545754		1988	4153	6141	SO:0001583	missense	115948							g.chr19:11545754C>G		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.84G>C	19.37:g.11545754C>G	ENSP00000348757:p.Lys28Asn		OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	673	CCDC151_ENST00000586836.1_Intron|CCDC151_ENST00000545100.1_Intron|CCDC151_ENST00000591179.1_Missense_Mutation_p.K28N	p.K28N	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN			1	171	-			28					B4DXT0|Q96CG5	Missense_Mutation	SNP	ENST00000356392.4	37	c.84G>C	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109371	0.56398	.	.	ENSG00000198003	ENST00000356392	T	0.13089	2.62	3.88	-1.23	0.09465	.	0.180310	0.27019	N	0.021328	T	0.20981	0.0505	L	0.47716	1.5	0.22880	N	0.998614	D;D	0.76494	0.999;0.979	D;P	0.69479	0.964;0.728	T	0.06215	-1.0839	10	0.39692	T	0.17	-16.2462	6.813	0.23814	0.0:0.4321:0.0:0.5679	.	28;28	B3KPH7;A5D8V7	.;CC151_HUMAN	N	28	ENSP00000348757:K28N	ENSP00000348757:K28N	K	-	3	2	CCDC151	11406754	0.002000	0.14202	0.044000	0.18714	0.033000	0.12548	-0.091000	0.11146	-0.126000	0.11682	-0.345000	0.07892	AAG		0.667	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		27	97	0	0	0	1	0	27	97				
MC5R	4161	broad.mit.edu	37	18	13826297	13826297	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:13826297T>C	ENST00000324750.3	+	1	755	c.533T>C	c.(532-534)aTc>aCc	p.I178T	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	178					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATTGTCTTCATCCTGTACTCA	0.562																																						ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(532-534)aTc>aCc		melanocortin 5 receptor							461.0	396.0	418.0					18																	13826297		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826297T>C	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.533T>C	18.37:g.13826297T>C	ENSP00000318077:p.Ile178Thr						p.I178T	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	755	+			178					B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.533T>C	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.337644	0.41398	.	.	ENSG00000176136	ENST00000324750	T	0.37235	1.21	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68869	0.3048	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78257	-0.2274	10	0.87932	D	0	.	13.8852	0.63704	0.0:0.0:0.0:1.0	.	178	P33032	MC5R_HUMAN	T	178	ENSP00000318077:I178T	ENSP00000318077:I178T	I	+	2	0	MC5R	13816297	1.000000	0.71417	0.051000	0.19133	0.013000	0.08279	7.633000	0.83260	1.873000	0.54277	0.374000	0.22700	ATC		0.562	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		165	606	0	0	0	1	0	165	606				
CELSR2	1952	broad.mit.edu	37	1	109804950	109804950	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:109804950G>A	ENST00000271332.3	+	6	4489	c.4428G>A	c.(4426-4428)gaG>gaA	p.E1476E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1476	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCCCATCAGAGCAGAAGGTGG	0.607																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(4426-4428)gaG>gaA		cadherin, EGF LAG seven-pass G-type receptor 2							60.0	58.0	59.0					1																	109804950		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109804950G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4428G>A	1.37:g.109804950G>A							p.E1476E	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	6	4489	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1476			Laminin G-like 1.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.4428G>A	CCDS796.1																																																																																				0.607	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		17	38	0	0	0	1	0	17	38				
KMT2D	8085	broad.mit.edu	37	12	49432223	49432223	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:49432223C>T	ENST00000301067.7	-	34	8915	c.8916G>A	c.(8914-8916)gaG>gaA	p.E2972E	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2972	Pro-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)										GGCGGCCAAGCTCAGTGCTCG	0.592																																						ENST00000301067.7																			0											c.(8914-8916)gaG>gaA		lysine (K)-specific methyltransferase 2D							66.0	70.0	69.0					12																	49432223		1953	4137	6090	SO:0001819	synonymous_variant	8085							g.chr12:49432223C>T	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.8916G>A	12.37:g.49432223C>T							p.E2972E	NM_003482.3	NP_003473.3					34	8915	-								O14687	Silent	SNP	ENST00000301067.7	37	c.8916G>A	CCDS44873.1																																																																																				0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			35	122	0	0	0	1	0	35	122				
CYP2A13	1553	broad.mit.edu	37	19	41596072	41596072	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41596072T>C	ENST00000330436.3	+	3	464	c.464T>C	c.(463-465)tTc>tCc	p.F155S		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	155					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GAGGCGGGCTTCCTCATCGAC	0.692																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(463-465)tTc>tCc		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						32.0	33.0	32.0					19																	41596072		2202	4300	6502	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41596072T>C	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.464T>C	19.37:g.41596072T>C	ENSP00000332679:p.Phe155Ser						p.F155S	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			3	464	+			155					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.464T>C	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	9.247	1.039804	0.19669	.	.	ENSG00000197838	ENST00000330436	T	0.67171	-0.25	3.43	2.37	0.29283	.	0.126252	0.53938	U	0.000049	T	0.54983	0.1892	N	0.10645	0.015	0.09310	N	1	P	0.46621	0.881	P	0.54706	0.759	T	0.48736	-0.9009	10	0.34782	T	0.22	.	9.1594	0.37012	0.0:0.0:0.1835:0.8165	.	155	Q16696	CP2AD_HUMAN	S	155	ENSP00000332679:F155S	ENSP00000332679:F155S	F	+	2	0	CYP2A13	46287912	0.001000	0.12720	0.998000	0.56505	0.040000	0.13550	0.138000	0.16016	0.459000	0.27016	0.254000	0.18369	TTC		0.692	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		19	47	0	0	0	1	0	19	47				
SCAF4	57466	broad.mit.edu	37	21	33044429	33044429	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:33044429G>A	ENST00000286835.7	-	20	3109	c.2727C>T	c.(2725-2727)ttC>ttT	p.F909F	SCAF4_ENST00000399804.1_Silent_p.F887F|SCAF4_ENST00000434667.3_Silent_p.F894F	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	909						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CATGCGGTGGGAAGGGACCTT	0.662																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2725-2727)ttC>ttT		SR-related CTD-associated factor 4							48.0	45.0	46.0					21																	33044429		2203	4300	6503	SO:0001819	synonymous_variant	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33044429G>A	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2727C>T	21.37:g.33044429G>A						SCAF4_ENST00000434667.3_Silent_p.F894F|SCAF4_ENST00000399804.1_Silent_p.F887F	p.F909F	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			20	3109	-			909					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Silent	SNP	ENST00000286835.7	37	c.2727C>T	CCDS33537.1																																																																																				0.662	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		31	72	0	0	0	1	0	31	72				
KDM2B	84678	broad.mit.edu	37	12	121868266	121868266	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:121868266T>C	ENST00000377071.4	-	23	3908	c.3836A>G	c.(3835-3837)aAt>aGt	p.N1279S	KDM2B_ENST00000536437.1_Missense_Mutation_p.I539V|KDM2B_ENST00000542973.1_Missense_Mutation_p.N647S|KDM2B_ENST00000377069.4_Missense_Mutation_p.N1210S|RNF34_ENST00000392464.2_Missense_Mutation_p.I498T	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1279					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						AGTGACCTTATTGCAGTCTGC	0.537																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(3628-3630)aAt>aGt		lysine (K)-specific demethylase 2B							114.0	111.0	112.0					12																	121868266		1984	4169	6153	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121868266T>C	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3836A>G	12.37:g.121868266T>C	ENSP00000366271:p.Asn1279Ser					KDM2B_ENST00000536437.1_Missense_Mutation_p.I539V|RNF34_ENST00000392464.2_Missense_Mutation_p.I498T|KDM2B_ENST00000377071.4_Missense_Mutation_p.N1279S|KDM2B_ENST00000542973.1_Missense_Mutation_p.N647S	p.N1210S	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			22	4035	-			1279					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.3629A>G	CCDS41850.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	12.42|12.42|12.42	1.933838|1.933838|1.933838	0.34096|0.34096|0.34096	.|.|.	.|.|.	ENSG00000170633|ENSG00000089094|ENSG00000089094	ENST00000392464|ENST00000536437|ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043	T|T|T;T;T	0.36878|0.40225|0.25912	1.23|1.04|1.77;1.77;1.77	5.61|5.61|5.61	3.25|3.25|3.25	0.37280|0.37280|0.37280	.|.|.	.|.|0.000000	.|.|0.56097	.|.|D	.|.|0.000029	T|T|T	0.16428|0.16428|0.16428	0.0395|0.0395|0.0395	N|N|N	0.25286|0.25286|0.25286	0.73|0.73|0.73	0.09310|0.09310|0.09310	N|N|N	0.999999|0.999999|0.999999	.|B|B;B;B;B	.|0.14438|0.18461	.|0.01|0.0;0.028;0.003;0.0	.|B|B;B;B;B	.|0.09377|0.12837	.|0.004|0.007;0.008;0.003;0.003	T|T|T	0.16867|0.16867|0.16867	-1.0388|-1.0388|-1.0388	6|9|10	.|0.87932|0.39692	.|D|T	.|0|0.17	-14.5252|-14.5252|-14.5252	9.9199|9.9199|9.9199	0.41457|0.41457|0.41457	0.0:0.1383:0.0:0.8617|0.0:0.1383:0.0:0.8617|0.0:0.1383:0.0:0.8617	.|.|.	.|539|719;1279;1210;722	.|Q1RLM7|B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.|.|.;KDM2B_HUMAN;.;.	T|V|S	498|539|1269;647;1210;1279;722	ENSP00000376257:I498T|ENSP00000445196:I539V|ENSP00000437821:N647S;ENSP00000366269:N1210S;ENSP00000366271:N1279S	.|ENSP00000445196:I539V|ENSP00000366269:N1210S	I|I|N	+|-|-	2|1|2	0|0|0	RNF34|KDM2B|KDM2B	120352649|120352649|120352649	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.892000|0.892000|0.892000	0.51952|0.51952|0.51952	4.992000|4.992000|4.992000	0.63889|0.63889|0.63889	0.418000|0.418000|0.418000	0.25898|0.25898|0.25898	-0.250000|-0.250000|-0.250000	0.11733|0.11733|0.11733	ATT|ATA|AAT		0.537	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		4	196	0	0	0	1	0	4	196				
HTT	3064	broad.mit.edu	37	4	3234934	3234934	+	Silent	SNP	G	G	A	rs369914566		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:3234934G>A	ENST00000355072.5	+	61	8455	c.8310G>A	c.(8308-8310)acG>acA	p.T2770T	HTT_ENST00000513806.1_Intron	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2770					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGGAGAGCACGCTCAGGAGCA	0.647																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(8308-8310)acG>acA		huntingtin		A		2,4262		0,2,2130	67.0	80.0	76.0		8310	-10.2	0.2	4		76	0,8498		0,0,4249	no	coding-synonymous	HTT	NM_002111.6		0,2,6379	AA,AG,GG		0.0,0.0469,0.0157		2770/3143	3234934	2,12760	2132	4249	6381	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3234934G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.8310G>A	4.37:g.3234934G>A						HTT_ENST00000513806.1_Intron	p.T2770T	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	61	8455	+		all_epithelial(65;0.18)	2770					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.8310G>A	CCDS43206.1																																																																																				0.647	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		54	140	0	0	0	1	0	54	140				
ACLY	47	broad.mit.edu	37	17	40061860	40061860	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:40061860C>T	ENST00000352035.2	-	9	1048	c.918G>A	c.(916-918)gaG>gaA	p.E306E	ACLY_ENST00000393896.2_Silent_p.E306E|ACLY_ENST00000353196.1_Silent_p.E306E|ACLY_ENST00000590151.1_Silent_p.E306E|ACLY_ENST00000537919.1_Intron	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	306					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CGCCTGAGTACTCCCCATAGT	0.557																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(916-918)gaG>gaA		ATP citrate lyase							151.0	127.0	135.0					17																	40061860		2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40061860C>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.918G>A	17.37:g.40061860C>T						ACLY_ENST00000537919.1_Intron|ACLY_ENST00000590151.1_Silent_p.E306E|ACLY_ENST00000393896.2_Silent_p.E306E|ACLY_ENST00000353196.1_Silent_p.E306E	p.E306E	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			9	1048	-		Breast(137;0.000143)	306					B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.918G>A	CCDS11412.1																																																																																				0.557	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		6	138	0	0	0	1	0	6	138				
CCDC78	124093	broad.mit.edu	37	16	774145	774145	+	Silent	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:774145G>T	ENST00000293889.6	-	10	1119	c.1014C>A	c.(1012-1014)ccC>ccA	p.P338P	HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	338					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CCAGGGGCACGGGCAATGGTT	0.637																																						ENST00000293889.6																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9						c.(1012-1014)ccC>ccA		coiled-coil domain containing 78							61.0	70.0	67.0					16																	774145		2200	4299	6499	SO:0001819	synonymous_variant	124093							g.chr16:774145G>T	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.1014C>A	16.37:g.774145G>T							p.P338P	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN			10	1119	-		Hepatocellular(780;0.0218)	338					B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Silent	SNP	ENST00000293889.6	37	c.1014C>A	CCDS32353.1	.	.	.	.	.	.	.	.	.	.	G	4.062	0.009329	0.07912	.	.	ENSG00000162004	ENST00000345165	T	0.79033	-1.23	3.9	-7.8	0.01214	.	0.379317	0.23472	N	0.047811	T	0.62986	0.2473	.	.	.	0.21473	N	0.999671	.	.	.	.	.	.	T	0.57118	-0.7866	7	0.56958	D	0.05	-3.6376	1.1551	0.01794	0.4322:0.1151:0.2201:0.2327	.	.	.	.	Q	187	ENSP00000316851:P187Q	ENSP00000316851:P187Q	P	-	2	0	CCDC78	714146	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.831000	0.01698	-2.225000	0.00724	-1.569000	0.00873	CCG		0.637	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3	NM_173476		21	86	1	0	1.55795e-14	1	1.62985e-14	21	86				
ATP2A1	487	broad.mit.edu	37	16	28914656	28914656	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:28914656C>T	ENST00000357084.3	+	21	3142	c.2875C>T	c.(2875-2877)Ctc>Ttc	p.L959F	ATP2A1_ENST00000395503.4_Missense_Mutation_p.L959F|ATP2A1_ENST00000536376.1_Missense_Mutation_p.L834F	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	959					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GATCTTCAAGCTCCGGGCCCT	0.622																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(2875-2877)Ctc>Ttc		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							99.0	88.0	92.0					16																	28914656		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28914656C>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2875C>T	16.37:g.28914656C>T	ENSP00000349595:p.Leu959Phe					ATP2A1_ENST00000536376.1_Missense_Mutation_p.L834F|ATP2A1_ENST00000357084.3_Missense_Mutation_p.L959F	p.L959F	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			21	3059	+			959					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.2875C>T	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514031	0.64522	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000536376	D;D;D	0.96104	-3.91;-3.91;-3.91	5.62	4.66	0.58398	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000001	D	0.93949	0.8063	L	0.46741	1.465	0.53688	D	0.999973	P;B;P	0.49635	0.926;0.066;0.686	P;B;B	0.49528	0.614;0.141;0.379	D	0.93308	0.6682	10	0.87932	D	0	.	8.5052	0.33184	0.1548:0.7672:0.0:0.078	.	834;959;959	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	F	959;959;834	ENSP00000349595:L959F;ENSP00000378879:L959F;ENSP00000443101:L834F	ENSP00000349595:L959F	L	+	1	0	ATP2A1	28822157	0.976000	0.34144	0.993000	0.49108	0.958000	0.62258	0.102000	0.15272	1.362000	0.46000	0.561000	0.74099	CTC		0.622	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		5	137	0	0	0	1	0	5	137				
DVL1	1855	broad.mit.edu	37	1	1274021	1274021	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:1274021G>A	ENST00000378888.5	-	12	1504	c.1220C>T	c.(1219-1221)gCg>gTg	p.A407V	DVL1_ENST00000378891.5_Missense_Mutation_p.A382V			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	407					axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	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)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGTCAGCGGCGCCTCTTCCAG	0.662																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(1219-1221)gCg>gTg		dishevelled segment polarity protein 1							31.0	29.0	30.0					1																	1274021		2200	4296	6496	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1274021G>A	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1220C>T	1.37:g.1274021G>A	ENSP00000368166:p.Ala407Val					DVL1_ENST00000378891.5_Missense_Mutation_p.A382V	p.A407V			O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	12	1504	-	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)	407					Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.1220C>T		.	.	.	.	.	.	.	.	.	.	G	2.340	-0.351395	0.05173	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000263743	T;T	0.04551	3.6;3.61	3.82	-0.404	0.12396	.	0.283692	0.31461	N	0.007603	T	0.01730	0.0055	N	0.17474	0.49	0.09310	N	1	B;P;B;B	0.48998	0.001;0.918;0.085;0.05	B;B;B;B	0.29785	0.001;0.107;0.026;0.057	T	0.53844	-0.8381	10	0.16896	T	0.51	.	5.919	0.19072	0.2414:0.1377:0.6208:0.0	.	65;407;382;382	G3XA93;O14640;P54792;O14640-2	.;DVL1_HUMAN;DVL1L_HUMAN;.	V	382;407;65	ENSP00000368169:A382V;ENSP00000368166:A407V	ENSP00000263743:A65V	A	-	2	0	DVL1	1263884	0.819000	0.29175	0.264000	0.24511	0.610000	0.37248	1.703000	0.37846	-0.167000	0.10871	0.449000	0.29647	GCG		0.662	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		14	30	0	0	0	1	0	14	30				
LDLR	3949	broad.mit.edu	37	19	11227551	11227551	+	Silent	SNP	C	C	T	rs538805346		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11227551C>T	ENST00000558518.1	+	12	1909	c.1722C>T	c.(1720-1722)cgC>cgT	p.R574R	LDLR_ENST00000558013.1_Silent_p.R574R|LDLR_ENST00000557933.1_Silent_p.R574R|LDLR_ENST00000545707.1_Silent_p.R447R|LDLR_ENST00000455727.2_Silent_p.R406R|LDLR_ENST00000535915.1_Silent_p.R533R	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	574					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	TCAGTGGCCGCCTCTACTGGG	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16216	0.0		0.0	False		,,,				2504	0.0				GBM(18;201 575 7820 21545)	ENST00000558518.1																			1	Unknown(1)	p.?(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1720-1722)cgC>cgT		low density lipoprotein receptor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						223.0	202.0	209.0					19																	11227551		2203	4300	6503	SO:0001819	synonymous_variant	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11227551C>T	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1722C>T	19.37:g.11227551C>T						LDLR_ENST00000535915.1_Silent_p.R533R|LDLR_ENST00000558013.1_Silent_p.R574R|LDLR_ENST00000545707.1_Silent_p.R447R|LDLR_ENST00000455727.2_Silent_p.R406R|LDLR_ENST00000557933.1_Silent_p.R574R	p.R574R	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	12	1909	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	574					B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	ENST00000558518.1	37	c.1722C>T	CCDS12254.1																																																																																				0.587	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			5	277	0	0	0	1	0	5	277				
CR2	1380	broad.mit.edu	37	1	207648545	207648545	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:207648545A>G	ENST00000367058.3	+	13	2712	c.2523A>G	c.(2521-2523)ccA>ccG	p.P841P	CR2_ENST00000458541.2_Silent_p.P814P|CR2_ENST00000367059.3_Silent_p.P841P|CR2_ENST00000367057.3_Silent_p.P900P	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	841	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CAGGTGTGCCAACTTGTATCA	0.403																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(2698-2700)ccA>ccG		complement component (3d/Epstein Barr virus) receptor 2							137.0	129.0	132.0					1																	207648545		2203	4300	6503	SO:0001819	synonymous_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207648545A>G	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2523A>G	1.37:g.207648545A>G						CR2_ENST00000367058.3_Silent_p.P841P|CR2_ENST00000367059.3_Silent_p.P841P|CR2_ENST00000458541.2_Silent_p.P814P	p.P900P	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			14	2889	+			966			Sushi 14.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Silent	SNP	ENST00000367058.3	37	c.2700A>G	CCDS1478.1																																																																																				0.403	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		29	92	0	0	0	1	0	29	92				
DBNDD2	55861	broad.mit.edu	37	20	44037154	44037154	+	Missense_Mutation	SNP	T	T	C	rs373093739		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:44037154T>C	ENST00000372720.3	+	2	572	c.341T>C	c.(340-342)cTt>cCt	p.L114P	DBNDD2_ENST00000372722.3_Missense_Mutation_p.L16P|DBNDD2_ENST00000372710.3_Missense_Mutation_p.L118P|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000372723.3_Missense_Mutation_p.L16P|DBNDD2_ENST00000372712.2_Missense_Mutation_p.L16P|TP53TG5_ENST00000494455.1_5'Flank|DBNDD2_ENST00000357275.2_Missense_Mutation_p.L16P|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000360981.4_Missense_Mutation_p.L16P|DBNDD2_ENST00000372717.1_Missense_Mutation_p.L16P	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	114					negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)				breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CAGCTCCGCCTTCGGGAGCGG	0.552																																						ENST00000372712.2																			0				breast(1)|lung(2)	3						c.(46-48)cTt>cCt		dysbindin (dystrobrevin binding protein 1) domain containing 2		T	PRO/LEU,PRO/LEU,PRO/LEU,PRO/LEU,PRO/LEU,PRO/LEU,PRO/LEU,PRO/LEU,PRO/LEU	1,3747		0,1,1873	63.0	67.0	66.0		47,47,47,47,353,353,47,47,341	5.6	1.0	20		66	0,8196		0,0,4098	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	DBNDD2	NM_001048221.2,NM_001048222.2,NM_001048223.2,NM_001048224.2,NM_001048225.2,NM_001048226.2,NM_001197139.1,NM_001197140.1,NM_018478.3	98,98,98,98,98,98,98,98,98	0,1,5971	CC,CT,TT		0.0,0.0267,0.0084	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	16/162,16/113,16/162,16/113,118/264,118/215,16/162,16/162,114/260	44037154	1,11943	1874	4098	5972	SO:0001583	missense	55861				negative regulation of protein kinase activity	cytoplasm	protein binding	g.chr20:44037154T>C	AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274			15881	protein-coding gene	gene with protein product		611453	"""chromosome 20 open reading frame 35"""	C20orf35			Standard	NM_001048225		Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372720.3:c.341T>C	20.37:g.44037154T>C	ENSP00000361805:p.Leu114Pro					DBNDD2_ENST00000372720.3_Missense_Mutation_p.L114P|DBNDD2_ENST00000372717.1_Missense_Mutation_p.L16P|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000372710.3_Missense_Mutation_p.L118P|DBNDD2_ENST00000360981.4_Missense_Mutation_p.L16P|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000372722.3_Missense_Mutation_p.L16P|DBNDD2_ENST00000357275.2_Missense_Mutation_p.L16P|DBNDD2_ENST00000372723.3_Missense_Mutation_p.L16P	p.L16P			Q9BQY9	DBND2_HUMAN			2	628	+		Myeloproliferative disorder(115;0.0122)	114					Q331S6|Q5QPV4|Q5QPV6|Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	Missense_Mutation	SNP	ENST00000372720.3	37	c.47T>C	CCDS56193.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.8|23.8	4.461223|4.461223	0.84317|0.84317	2.67E-4|2.67E-4	0.0|0.0	ENSG00000244274|ENSG00000244274	ENST00000443296|ENST00000372723;ENST00000372722;ENST00000357275;ENST00000372720;ENST00000372717;ENST00000360981;ENST00000372712;ENST00000372710	.|T;T;T;T;T;T;T;T	.|0.39406	.|1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.075375	.|0.56097	.|D	.|0.000039	T|T	0.62295|0.62295	0.2416|0.2416	M|M	0.69463|0.69463	2.115|2.115	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	T|T	0.65022|0.65022	-0.6269|-0.6269	5|10	.|0.62326	.|D	.|0.03	.|.	13.5224|13.5224	0.61576|0.61576	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|16;114	.|Q5QPV4;Q9BQY9	.|.;DBND2_HUMAN	L|P	76|16;16;16;114;16;16;16;118	.|ENSP00000361808:L16P;ENSP00000361807:L16P;ENSP00000349822:L16P;ENSP00000361805:L114P;ENSP00000361802:L16P;ENSP00000354250:L16P;ENSP00000361797:L16P;ENSP00000361795:L118P	.|ENSP00000349822:L16P	F|L	+|+	1|2	0|0	DBNDD2|DBNDD2	43470568|43470568	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.545000|4.545000	0.60698|0.60698	2.129000|2.129000	0.65627|0.65627	0.533000|0.533000	0.62120|0.62120	TTC|CTT		0.552	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079438.1	NM_018478		34	98	0	0	0	1	0	34	98				
SLC35C2	51006	broad.mit.edu	37	20	44983791	44983791	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:44983791G>A	ENST00000372227.1	-	6	1038	c.498C>T	c.(496-498)ttC>ttT	p.F166F	SLC35C2_ENST00000372230.5_Silent_p.F166F|SLC35C2_ENST00000317734.8_Silent_p.F145F|SLC35C2_ENST00000493599.1_5'Flank|SLC35C2_ENST00000372229.1_Silent_p.F33F|SLC35C2_ENST00000243896.2_Silent_p.F166F|SLC35C2_ENST00000543605.1_Silent_p.F195F	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	166					negative regulation of gene expression (GO:0010629)|positive regulation of Notch signaling pathway (GO:0045747)|protein O-linked fucosylation (GO:0036066)|transport (GO:0006810)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				GCACCAAGGCGAAGCCCTCCA	0.617																																						ENST00000372227.1																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16						c.(496-498)ttC>ttT		solute carrier family 35 (GDP-fucose transporter), member C2							78.0	63.0	68.0					20																	44983791		2203	4300	6503	SO:0001819	synonymous_variant	51006				transport	integral to membrane		g.chr20:44983791G>A		CCDS13396.1, CCDS13397.1, CCDS63292.1	20q13.12	2013-07-17	2013-07-17	2003-10-10	ENSG00000080189	ENSG00000080189		"""Solute carriers"""	17117	protein-coding gene	gene with protein product			"""ovarian cancer overexpressed 1"", ""solute carrier family 35, member C2"""	C20orf5, OVCOV1		10810093, 11549316	Standard	NM_173179		Approved	CGI-15, bA394O2.1	uc002xrq.3	Q9NQQ7	OTTHUMG00000033050	ENST00000372227.1:c.498C>T	20.37:g.44983791G>A						SLC35C2_ENST00000543605.1_Silent_p.F195F|SLC35C2_ENST00000372230.5_Silent_p.F166F|SLC35C2_ENST00000317734.8_Silent_p.F145F|SLC35C2_ENST00000372229.1_Silent_p.F33F|SLC35C2_ENST00000243896.2_Silent_p.F166F	p.F166F			Q9NQQ7	S35C2_HUMAN			6	1038	-		Myeloproliferative disorder(115;0.0122)	166					B7Z6V6|E1P5T0|Q53GK3|Q5JW05|Q96CJ8|Q9Y304	Silent	SNP	ENST00000372227.1	37	c.498C>T	CCDS13396.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809265	0.31961	.	.	ENSG00000080189	ENST00000372223;ENST00000420518;ENST00000424568	.	.	.	5.28	-9.02	0.00741	.	.	.	.	.	T	0.25195	0.0612	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30119	-0.9989	5	0.02654	T	1	-14.3977	11.752	0.51853	0.6163:0.0:0.3053:0.0784	.	.	.	.	L	142;121;142	.	ENSP00000361297:S142L	S	-	2	0	SLC35C2	44417198	0.004000	0.15560	0.376000	0.26042	0.791000	0.44710	-0.561000	0.05957	-1.802000	0.01244	-0.940000	0.02684	TCG		0.617	SLC35C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080363.1	NM_015945		34	65	0	0	0	1	0	34	65				
ACAD10	80724	broad.mit.edu	37	12	112182670	112182670	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:112182670T>A	ENST00000313698.4	+	13	2093	c.1938T>A	c.(1936-1938)caT>caA	p.H646Q	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Missense_Mutation_p.H646Q|ACAD10_ENST00000392636.2_Missense_Mutation_p.H248Q|ACAD10_ENST00000455480.2_Missense_Mutation_p.H677Q	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	646						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCCCAGCTCATACCTCAAGGG	0.577																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(2029-2031)caT>caA		acyl-CoA dehydrogenase family, member 10							79.0	73.0	75.0					12																	112182670		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112182670T>A	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1938T>A	12.37:g.112182670T>A	ENSP00000325137:p.His646Gln					ACAD10_ENST00000313698.4_Missense_Mutation_p.H646Q|ACAD10_ENST00000549590.1_Missense_Mutation_p.H646Q|ACAD10_ENST00000392636.2_Missense_Mutation_p.H248Q|ACAD10_ENST00000413681.3_3'UTR	p.H677Q	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			14	2208	+			646					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.2031T>A	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	T	5.604	0.296145	0.10622	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000515283;ENST00000313698;ENST00000507683	D;T;D;D	0.96041	-3.89;3.34;-3.49;-3.49	5.18	0.191	0.15130	Acyl-CoA dehydrogenase/oxidase (1);	2.421730	0.01417	N	0.014233	D	0.93106	0.7805	L	0.54323	1.7	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.001;0.002;0.003	T	0.78848	-0.2042	10	0.13470	T	0.59	.	9.9346	0.41543	0.0:0.511:0.0:0.489	.	677;646;646	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	Q	248;646;646;677;39;646;227	ENSP00000376411:H248Q;ENSP00000446959:H646Q;ENSP00000389813:H677Q;ENSP00000325137:H646Q	ENSP00000325137:H646Q	H	+	3	2	ACAD10	110667053	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.958000	0.03857	-0.202000	0.10268	0.533000	0.62120	CAT		0.577	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		29	87	0	0	0	1	0	29	87				
PHF20L1	51105	broad.mit.edu	37	8	133848928	133848928	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:133848928A>G	ENST00000395386.2	+	16	2352	c.2053A>G	c.(2053-2055)Att>Gtt	p.I685V	PHF20L1_ENST00000395390.2_Missense_Mutation_p.I660V|AF230666.2_ENST00000429151.1_RNA|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.I72V	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	685							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGTGCGATGTATTTGTGAGAT	0.398																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(2053-2055)Att>Gtt		PHD finger protein 20-like 1							191.0	183.0	185.0					8																	133848928		1971	4146	6117	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133848928A>G	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2053A>G	8.37:g.133848928A>G	ENSP00000378784:p.Ile685Val					PHF20L1_ENST00000395390.2_Missense_Mutation_p.I660V|PHF20L1_ENST00000220847.7_Missense_Mutation_p.I72V	p.I685V	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		16	2352	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		685					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.2053A>G	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	A	13.54	2.266761	0.40095	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	D;D;D	0.84370	-1.84;-1.84;-1.84	5.14	-0.316	0.12743	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.119613	0.33712	U	0.004624	T	0.70011	0.3175	N	0.20357	0.565	0.36598	D	0.874499	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.56238	-0.8012	10	0.26408	T	0.33	-21.6746	9.0002	0.36077	0.6737:0.0:0.3263:0.0	.	660;685	F8W9L8;A8MW92	.;P20L1_HUMAN	V	685;72;660	ENSP00000378784:I685V;ENSP00000220847:I72V;ENSP00000378788:I660V	ENSP00000220847:I72V	I	+	1	0	PHF20L1	133918110	0.846000	0.29590	0.301000	0.25044	0.990000	0.78478	1.815000	0.38981	-0.213000	0.10094	-0.432000	0.05891	ATT		0.398	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		4	144	0	0	0	1	0	4	144				
POLR2I	5438	broad.mit.edu	37	19	36604715	36604715	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:36604715G>C	ENST00000221859.4	-	6	809	c.320C>G	c.(319-321)gCc>gGc	p.A107G	TBCB_ENST00000589996.1_5'Flank|TBCB_ENST00000221855.3_5'Flank|TBCB_ENST00000585746.1_5'Flank|TBCB_ENST00000586868.1_5'Flank	NM_006233.4	NP_006224.1	P36954	RPB9_HUMAN	polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa	107					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|maintenance of transcriptional fidelity during DNA-templated transcription elongation from RNA polymerase II promoter (GO:0001193)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AAGGCGCATGGCGTCCTGGCA	0.557											OREG0025437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221859.4																			0				kidney(1)|large_intestine(1)|ovary(1)	3						c.(319-321)gCc>gGc		polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa							94.0	87.0	90.0					19																	36604715		2203	4300	6503	SO:0001583	missense	5438				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|zinc ion binding	g.chr19:36604715G>C		CCDS12487.1	19q13.12	2013-10-17	2002-08-29		ENSG00000105258	ENSG00000105258	2.7.7.6	"""RNA polymerase subunits"""	9196	protein-coding gene	gene with protein product		180662	"""polymerase (RNA) II (DNA directed) polypeptide I (14.5kD)"""			8034326	Standard	NM_006233		Approved	RPB9, hRPB14.5	uc002ode.3	P36954	OTTHUMG00000181749	ENST00000221859.4:c.320C>G	19.37:g.36604715G>C	ENSP00000221859:p.Ala107Gly		OREG0025437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	864		p.A107G	NM_006233.4	NP_006224.1	P36954	RPB9_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		6	809	-	Esophageal squamous(110;0.162)		107					B2R5J2|Q6NW05	Missense_Mutation	SNP	ENST00000221859.4	37	c.320C>G	CCDS12487.1	.	.	.	.	.	.	.	.	.	.	G	4.628	0.116782	0.08881	.	.	ENSG00000105258	ENST00000221859	T	0.42900	0.96	5.93	5.93	0.95920	Zinc finger, TFIIS-type (4);	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	N	0.02181	-0.65	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.21999	-1.0229	10	0.02654	T	1	-24.0326	17.8347	0.88692	0.0:0.0:1.0:0.0	.	107	P36954	RPB9_HUMAN	G	107	ENSP00000221859:A107G	ENSP00000221859:A107G	A	-	2	0	POLR2I	41296555	1.000000	0.71417	0.970000	0.41538	0.015000	0.08874	5.566000	0.67372	2.814000	0.96858	0.655000	0.94253	GCC		0.557	POLR2I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457442.1	NM_006233		5	39	0	0	0	1	0	5	39				
ZZZ3	26009	broad.mit.edu	37	1	78098499	78098499	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:78098499T>C	ENST00000370801.3	-	5	1016	c.541A>G	c.(541-543)Aat>Gat	p.N181D	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	181					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TCACTGACATTCACCTTTTTA	0.398																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(541-543)Aat>Gat		zinc finger, ZZ-type containing 3							153.0	152.0	152.0					1																	78098499		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098499T>C	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.541A>G	1.37:g.78098499T>C	ENSP00000359837:p.Asn181Asp					ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	p.N181D	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			5	1016	-			181					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.541A>G	CCDS677.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.588429	0.28357	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.34	4.21	0.49690	.	0.160855	0.53938	D	0.000045	T	0.22551	0.0544	N	0.19112	0.55	0.80722	D	1	B;B;B	0.20671	0.047;0.005;0.008	B;B;B	0.18263	0.021;0.003;0.006	T	0.08391	-1.0724	8	.	.	.	.	10.8667	0.46860	0.0:0.0739:0.0:0.9261	.	181;181;181	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	D	181	.	.	N	-	1	0	ZZZ3	77871087	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.688000	0.54699	2.141000	0.66446	0.528000	0.53228	AAT		0.398	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		19	195	0	0	0	1	0	19	195				
OR2K2	26248	broad.mit.edu	37	9	114089977	114089977	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:114089977A>G	ENST00000374428.1	-	1	823	c.824T>C	c.(823-825)gTg>gCg	p.V275A	OR2K2_ENST00000302681.1_Missense_Mutation_p.V246A			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CAAAATCACCACAGTCAAATG	0.418																																						ENST00000374428.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						c.(823-825)gTg>gCg		olfactory receptor, family 2, subfamily K, member 2							119.0	117.0	118.0					9																	114089977		2203	4300	6503	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114089977A>G	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.824T>C	9.37:g.114089977A>G	ENSP00000363550:p.Val275Ala					OR2K2_ENST00000302681.1_Missense_Mutation_p.V246A	p.V275A			Q8NGT1	OR2K2_HUMAN			1	823	-			275					Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.824T>C		.	.	.	.	.	.	.	.	.	.	A	16.58	3.163148	0.57476	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00237	8.47;8.47	4.55	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36555	U	0.002526	T	0.00468	0.0015	M	0.69248	2.105	0.37570	D	0.919382	D	0.89917	1.0	D	0.91635	0.999	T	0.80317	-0.1433	10	0.87932	D	0	.	12.1847	0.54231	1.0:0.0:0.0:0.0	.	275	Q8NGT1	OR2K2_HUMAN	A	246;275	ENSP00000305055:V246A;ENSP00000363550:V275A	ENSP00000305055:V246A	V	-	2	0	OR2K2	113129798	0.005000	0.15991	0.974000	0.42286	0.845000	0.48019	1.907000	0.39897	2.047000	0.60756	0.482000	0.46254	GTG		0.418	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		20	58	0	0	0	1	0	20	58				
MAGI2	9863	broad.mit.edu	37	7	78119086	78119086	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:78119086T>C	ENST00000354212.4	-	6	1290	c.1037A>G	c.(1036-1038)aAa>aGa	p.K346R	MAGI2_ENST00000536571.1_Missense_Mutation_p.K178R|MAGI2_ENST00000522391.1_Missense_Mutation_p.K346R|MAGI2_ENST00000535697.1_Missense_Mutation_p.K183R|MAGI2_ENST00000419488.1_Missense_Mutation_p.K346R	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	346	Interaction with DDN.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACCATTTTCTTTGCACTCTTC	0.388																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1036-1038)aAa>aGa		membrane associated guanylate kinase, WW and PDZ domain containing 2							206.0	211.0	209.0					7																	78119086		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78119086T>C	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1037A>G	7.37:g.78119086T>C	ENSP00000346151:p.Lys346Arg					MAGI2_ENST00000522391.1_Missense_Mutation_p.K346R|MAGI2_ENST00000535697.1_Missense_Mutation_p.K183R|MAGI2_ENST00000419488.1_Missense_Mutation_p.K346R|MAGI2_ENST00000536571.1_Missense_Mutation_p.K178R	p.K346R	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			6	1290	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	346			Interaction with DDN.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1037A>G	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.097598	0.37048	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.09911	3.0;3.01;2.93;3.86;3.86	5.49	5.49	0.81192	WW/Rsp5/WWP (2);	0.199695	0.23202	U	0.050772	T	0.07188	0.0182	N	0.04880	-0.145	0.45118	D	0.998132	B;B;B;B	0.17038	0.007;0.006;0.02;0.002	B;B;B;B	0.20577	0.017;0.007;0.03;0.002	T	0.31447	-0.9943	10	0.56958	D	0.05	.	15.0614	0.71958	0.0:0.0:0.0:1.0	.	183;178;346;346	F5GWH1;F5GWK7;Q86UL8-2;Q86UL8	.;.;.;MAGI2_HUMAN	R	346;346;346;346;178;183	ENSP00000405766:K346R;ENSP00000346151:K346R;ENSP00000428389:K346R;ENSP00000441584:K178R;ENSP00000441603:K183R	ENSP00000346151:K346R	K	-	2	0	MAGI2	77957022	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.361000	0.66092	2.205000	0.71048	0.455000	0.32223	AAA		0.388	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		6	203	0	0	0	1	0	6	203				
TIMMDC1	51300	broad.mit.edu	37	3	119217736	119217736	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:119217736A>G	ENST00000494664.1	+	1	358	c.156A>G	c.(154-156)gaA>gaG	p.E52E	TIMMDC1_ENST00000493694.1_Silent_p.E52E|RP11-190C22.8_ENST00000609598.1_lincRNA	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	52						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						ATTACCCGGAATCTGGATGGG	0.602																																						ENST00000494664.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(154-156)gaA>gaG		translocase of inner mitochondrial membrane domain containing 1							83.0	92.0	89.0					3																	119217736		2203	4300	6503	SO:0001819	synonymous_variant	51300					integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr3:119217736A>G	AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"""chromosome 3 open reading frame 1"""	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.156A>G	3.37:g.119217736A>G						TIMMDC1_ENST00000493694.1_Silent_p.E52E	p.E52E	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN			1	358	+			52					D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Silent	SNP	ENST00000494664.1	37	c.156A>G	CCDS33831.1																																																																																				0.602	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		40	113	0	0	0	1	0	40	113				
TCERG1	10915	broad.mit.edu	37	5	145838593	145838593	+	Silent	SNP	G	G	A	rs140816235	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:145838593G>A	ENST00000296702.5	+	4	623	c.585G>A	c.(583-585)gcG>gcA	p.A195A	TCERG1_ENST00000394421.2_Silent_p.A195A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	195	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.A195A(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aggcccaggcgcaggctcagg	0.667																																						ENST00000296702.5																			1	Substitution - coding silent(1)	p.A195A(1)	large_intestine(1)	breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(583-585)gcG>gcA		transcription elongation regulator 1		G	,	1,4403		0,1,2201	29.0	31.0	30.0		585,585	-6.7	0.9	5	dbSNP_134	30	5,8593	3.7+/-12.6	0,5,4294	no	coding-synonymous,coding-synonymous	TCERG1	NM_001040006.1,NM_006706.3	,	0,6,6495	AA,AG,GG		0.0582,0.0227,0.0461	,	195/1078,195/1099	145838593	6,12996	2202	4299	6501	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145838593G>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.585G>A	5.37:g.145838593G>A						TCERG1_ENST00000394421.2_Silent_p.A195A	p.A195A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	623	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	195			Ala/Gln-rich.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.585G>A	CCDS4282.1																																																																																				0.667	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		16	57	0	0	0	1	0	16	57				
PAK6	56924	broad.mit.edu	37	15	40557143	40557143	+	Missense_Mutation	SNP	G	G	A	rs371738802		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:40557143G>A	ENST00000542403.2	+	2	268	c.157G>A	c.(157-159)Gtg>Atg	p.V53M	RP11-133K1.2_ENST00000558658.1_Silent_p.P146P|PAK6_ENST00000441369.1_Missense_Mutation_p.V53M|PAK6_ENST00000560346.1_Missense_Mutation_p.V53M|PAK6_ENST00000260404.4_Missense_Mutation_p.V53M|PAK6_ENST00000453867.1_Missense_Mutation_p.V53M|PAK6_ENST00000455577.2_Missense_Mutation_p.V53M	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	53	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CCCCAAGCCCGTGGTGGACCC	0.622																																						ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(157-159)Gtg>Atg		p21 protein (Cdc42/Rac)-activated kinase 6		G	MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	67.0	64.0	65.0		157,157,157	5.4	1.0	15		65	0,8600		0,0,4300	no	missense,missense,missense	PAK6	NM_001128628.1,NM_001128629.1,NM_020168.4	21,21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	53/682,53/682,53/682	40557143	1,13005	2203	4300	6503	SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40557143G>A	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.157G>A	15.37:g.40557143G>A	ENSP00000439597:p.Val53Met					PAK6_ENST00000542403.2_Missense_Mutation_p.V53M|PAK6_ENST00000260404.4_Missense_Mutation_p.V53M|RP11-133K1.2_ENST00000558658.1_Silent_p.P146P|PAK6_ENST00000560346.1_Missense_Mutation_p.V53M|PAK6_ENST00000453867.1_Missense_Mutation_p.V53M|PAK6_ENST00000441369.1_Missense_Mutation_p.V53M	p.V53M	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	4	1069	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	53			Linker.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.157G>A	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809081	0.50421	2.27E-4	0.0	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0	5.44	5.44	0.79542	PAK-box/P21-Rho-binding (1);	0.105878	0.64402	D	0.000007	T	0.81064	0.4745	N	0.16862	0.45	0.58432	D	0.999992	P;P	0.52577	0.954;0.943	P;P	0.49528	0.614;0.584	T	0.77950	-0.2395	10	0.19147	T	0.46	.	19.6383	0.95746	0.0:0.0:1.0:0.0	.	53;53	Q9NQU5;G5E9R2	PAK6_HUMAN;.	M	53	ENSP00000406873:V53M;ENSP00000401153:V53M;ENSP00000409465:V53M;ENSP00000260404:V53M;ENSP00000439597:V53M	ENSP00000260404:V53M	V	+	1	0	PAK6	38344435	1.000000	0.71417	0.968000	0.41197	0.987000	0.75469	3.405000	0.52630	2.728000	0.93425	0.655000	0.94253	GTG		0.622	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			25	82	0	0	0	1	0	25	82				
CRLF2	64109	broad.mit.edu	37	X	1327714	1327714	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:1327714A>G	ENST00000381567.3	-	2	166	c.167T>C	c.(166-168)cTg>cCg	p.L56P	CRLF2_ENST00000381566.1_Missense_Mutation_p.L56P|CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	56					immunoglobulin secretion involved in immune response (GO:0002380)|inflammatory response (GO:0006954)|T-helper 2 cell cytokine production (GO:0035745)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTGGAAAGTCAGGTTGGTCCT	0.507			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""																																	ENST00000381567.3				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	64109	"""Mis, T"""	cytokine receptor-like factor 2			L	"""P2RY8, IGH@"""		"""B-ALL, Downs associated ALL"""		0				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20						c.(166-168)cTg>cCg		cytokine receptor-like factor 2							306.0	288.0	294.0					X																	1327714		1906	4115	6021	SO:0001583	missense	64109					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chrX:1327714A>G	AF142570	CCDS75944.1, CCDS75945.1	Xp22.3 and Yp11.3	2011-10-07			ENSG00000205755	ENSG00000205755		"""Pseudoautosomal regions / PAR1"""	14281	protein-coding gene	gene with protein product		300357, 400023				11237741, 11474172	Standard	NM_022148		Approved	CRL2, TSLPR	uc004cpk.2	Q9HC73	OTTHUMG00000067432	ENST00000381567.3:c.167T>C	X.37:g.1327714A>G	ENSP00000370979:p.Leu56Pro					CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.L56P	p.L56P	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN			2	166	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	56					Q9H5R3	Missense_Mutation	SNP	ENST00000381567.3	37	c.167T>C		.	.	.	.	.	.	.	.	.	.	.	7.959	0.746617	0.15710	.	.	ENSG00000205755	ENST00000381567;ENST00000400841;ENST00000381566	D;D;D	0.95518	-3.73;-3.73;-3.73	0.52	0.52	0.17040	Fibronectin, type III (1);	0.723879	0.12476	U	0.465559	D	0.96670	0.8913	.	.	.	0.09310	N	0.999997	D	0.89917	1.0	D	0.74023	0.982	D	0.89963	0.4088	8	0.87932	D	0	.	.	.	.	.	56	Q9HC73	CRLF2_HUMAN	P	56	ENSP00000370979:L56P;ENSP00000383641:L56P;ENSP00000370978:L56P	ENSP00000370978:L56P	L	-	2	0	CRLF2	1287714	0.016000	0.18221	0.024000	0.17045	0.163000	0.22366	1.401000	0.34589	0.457000	0.26962	0.058000	0.15282	CTG		0.507	CRLF2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022148		6	139	0	0	0	1	0	6	139				
FAM122A	116224	broad.mit.edu	37	9	71395719	71395719	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:71395719G>A	ENST00000394264.3	+	1	756	c.639G>A	c.(637-639)caG>caA	p.Q213Q	PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	213										endometrium(1)|lung(2)	3						CTGAATATCAGCCAAAGAGAT	0.453																																						ENST00000394264.3																			0				endometrium(1)|lung(2)	3						c.(637-639)caG>caA		family with sequence similarity 122A							105.0	103.0	104.0					9																	71395719		2203	4300	6503	SO:0001819	synonymous_variant	116224							g.chr9:71395719G>A	AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 42"""	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.639G>A	9.37:g.71395719G>A						PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	p.Q213Q	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN			1	756	+			213						Silent	SNP	ENST00000394264.3	37	c.639G>A	CCDS6623.1																																																																																				0.453	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052556.1	NM_138333		21	107	0	0	0	1	0	21	107				
POU3F3	5455	broad.mit.edu	37	2	105473289	105473289	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:105473289G>A	ENST00000361360.2	+	1	1321	c.1321G>A	c.(1321-1323)Gac>Aac	p.D441N	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	441					central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CAACCTGGCCGACAGCCTGCA	0.642																																						ENST00000361360.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1321-1323)Gac>Aac		POU class 3 homeobox 3							36.0	38.0	37.0					2																	105473289		2203	4300	6503	SO:0001583	missense	5455				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105473289G>A		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	9216	protein-coding gene	gene with protein product		602480	"""POU domain class 3, transcription factor 3"""				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1321G>A	2.37:g.105473289G>A	ENSP00000355001:p.Asp441Asn					RP11-13J10.1_ENST00000598623.1_RNA	p.D441N	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN			1	1321	+			441					P78379|Q4ZG25	Missense_Mutation	SNP	ENST00000361360.2	37	c.1321G>A	CCDS33265.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366259	0.61513	.	.	ENSG00000198914	ENST00000361360	D	0.96011	-3.88	4.31	4.31	0.51392	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	U	0.000001	D	0.89217	0.6652	N	0.05510	-0.035	0.80722	D	1	B	0.29432	0.244	B	0.26202	0.067	D	0.88713	0.3224	10	0.87932	D	0	.	15.5529	0.76167	0.0:0.0:1.0:0.0	.	441	P20264	PO3F3_HUMAN	N	441	ENSP00000355001:D441N	ENSP00000355001:D441N	D	+	1	0	POU3F3	104839721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.296000	0.96104	1.943000	0.56356	0.462000	0.41574	GAC		0.642	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2			12	48	0	0	0	1	0	12	48				
KAT2B	8850	broad.mit.edu	37	3	20153137	20153137	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:20153137T>C	ENST00000263754.4	+	6	1356	c.901T>C	c.(901-903)Tac>Cac	p.Y301H		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	301					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TCTACCTCGGTACGAAACCAC	0.488																																						ENST00000263754.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						c.(901-903)Tac>Cac		K(lysine) acetyltransferase 2B							161.0	134.0	143.0					3																	20153137		2203	4300	6503	SO:0001583	missense	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20153137T>C	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.901T>C	3.37:g.20153137T>C	ENSP00000263754:p.Tyr301His						p.Y301H	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN			6	1356	+			301					Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	c.901T>C	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.523303	0.85600	.	.	ENSG00000114166	ENST00000263754	T	0.22945	1.93	5.7	5.7	0.88788	PCAF, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.27027	0.0662	L	0.39514	1.22	0.80722	D	1	B	0.21381	0.055	B	0.30782	0.12	T	0.03394	-1.1041	10	0.37606	T	0.19	-16.0945	15.9541	0.79871	0.0:0.0:0.0:1.0	.	301	Q92831	KAT2B_HUMAN	H	301	ENSP00000263754:Y301H	ENSP00000263754:Y301H	Y	+	1	0	KAT2B	20128141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.934000	0.87649	2.167000	0.68274	0.528000	0.53228	TAC		0.488	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		18	57	0	0	0	1	0	18	57				
RALGAPB	57148	broad.mit.edu	37	20	37144935	37144935	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:37144935T>C	ENST00000262879.6	+	7	1257	c.973T>C	c.(973-975)Tat>Cat	p.Y325H	RALGAPB_ENST00000537204.1_Missense_Mutation_p.Y325H|MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397038.1_Missense_Mutation_p.Y103H|RALGAPB_ENST00000397040.1_Missense_Mutation_p.Y325H|RALGAPB_ENST00000397042.3_Missense_Mutation_p.Y325H			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	325					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATTGAATCAGTATCCCTGCCT	0.413																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(973-975)Tat>Cat		Ral GTPase activating protein, beta subunit (non-catalytic)							192.0	178.0	183.0					20																	37144935		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37144935T>C	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.973T>C	20.37:g.37144935T>C	ENSP00000262879:p.Tyr325His					RALGAPB_ENST00000397042.3_Missense_Mutation_p.Y325H|RALGAPB_ENST00000397038.1_Missense_Mutation_p.Y103H|RALGAPB_ENST00000537204.1_Missense_Mutation_p.Y325H|RALGAPB_ENST00000397040.1_Missense_Mutation_p.Y325H	p.Y325H			Q86X10	RLGPB_HUMAN			7	1257	+			325					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.973T>C	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	T	7.451	0.642691	0.14451	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000537204;ENST00000397040;ENST00000438490	.	.	.	5.48	5.48	0.80851	.	0.054636	0.85682	D	0.000000	T	0.20251	0.0487	N	0.00677	-1.265	0.45634	D	0.998566	B;B;B;B;B	0.11235	0.002;0.002;0.004;0.004;0.004	B;B;B;B;B	0.09377	0.004;0.002;0.004;0.004;0.004	T	0.36817	-0.9732	9	0.02654	T	1	.	15.8567	0.78983	0.0:0.0:0.0:1.0	.	325;153;325;325;325	B4E2E8;A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;.;RLGPB_HUMAN	H	325;325;325;103;325;325;153	.	ENSP00000262879:Y325H	Y	+	1	0	RALGAPB	36578349	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.567000	0.60850	2.198000	0.70561	0.383000	0.25322	TAT		0.413	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		47	154	0	0	0	1	0	47	154				
KMT2C	58508	broad.mit.edu	37	7	151849901	151849901	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:151849901G>A	ENST00000262189.6	-	49	12633	c.12415C>T	c.(12415-12417)Cga>Tga	p.R4139*	KMT2C_ENST00000485241.1_5'Flank|KMT2C_ENST00000355193.2_Nonsense_Mutation_p.R4196*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4139					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AAATGCTGTCGATACTCCAAA	0.527																																						ENST00000355193.2																			0											c.(12586-12588)Cga>Tga		lysine (K)-specific methyltransferase 2C							130.0	124.0	126.0					7																	151849901		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151849901G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12415C>T	7.37:g.151849901G>A	ENSP00000262189:p.Arg4139*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.R4139*	p.R4196*							50	12804	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.12586C>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	54|54	22.749912|22.749912	0.99950|0.99950	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	.|.	.|.	.|.	5.72|5.72	4.84|4.84	0.62591|0.62591	.|.	0.000000|.	0.37348|.	U|.	0.002140|.	.|T	.|0.59783	.|0.2219	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57888	.|-0.7733	.|4	0.02654|.	T|.	1|.	.|.	9.0984|9.0984	0.36653|0.36653	0.0724:0.0:0.6635:0.2641|0.0724:0.0:0.6635:0.2641	.|.	.|.	.|.	.|.	X|L	4139;4196;756|1699	.|.	ENSP00000262189:R4139X|.	R|S	-|-	1|2	2|0	MLL3|MLL3	151480834|151480834	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	3.956000|3.956000	0.56722|0.56722	1.413000|1.413000	0.46997|0.46997	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.527	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			47	109	0	0	0	1	0	47	109				
IGDCC3	9543	broad.mit.edu	37	15	65624371	65624371	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:65624371T>C	ENST00000327987.4	-	7	1307	c.1056A>G	c.(1054-1056)caA>caG	p.Q352Q	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	352	Ig-like C2-type 4.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CACCCTGGGCTTGGCAGGTGA	0.602																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1054-1056)caA>caG		immunoglobulin superfamily, DCC subclass, member 3							84.0	69.0	74.0					15																	65624371		2201	4299	6500	SO:0001819	synonymous_variant	9543							g.chr15:65624371T>C	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1056A>G	15.37:g.65624371T>C						IGDCC3_ENST00000559231.1_5'UTR	p.Q352Q	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			7	1307	-			352			Ig-like C2-type 4.		O95215	Silent	SNP	ENST00000327987.4	37	c.1056A>G	CCDS10205.1																																																																																				0.602	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		24	43	0	0	0	1	0	24	43				
RFT1	91869	broad.mit.edu	37	3	53153915	53153915	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:53153915A>G	ENST00000296292.3	-	6	742	c.681T>C	c.(679-681)aaT>aaC	p.N227N	RFT1_ENST00000394738.3_Silent_p.N188N	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	227					carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)	lipid transporter activity (GO:0005319)			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		TTCTTGTAATATTGGGTAACA	0.348																																						ENST00000296292.3																			0				NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12						c.(679-681)aaT>aaC		RFT1 homolog (S. cerevisiae)							99.0	111.0	107.0					3																	53153915		2203	4300	6503	SO:0001819	synonymous_variant	91869				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	g.chr3:53153915A>G	AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"""congenital disorder of glycosylation 1N"""	611908	"""RFT1, requiring fifty three 1 homolog (S. cerevisiae)"""			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.681T>C	3.37:g.53153915A>G						RFT1_ENST00000394738.3_Silent_p.N188N	p.N227N	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)	6	742	-			227					Q96J03	Silent	SNP	ENST00000296292.3	37	c.681T>C	CCDS2869.1																																																																																				0.348	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157136.2	NM_052859		5	127	0	0	0	1	0	5	127				
ADRA2B	151	broad.mit.edu	37	2	96781717	96781717	+	Missense_Mutation	SNP	C	C	T	rs541522740		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:96781717C>T	ENST00000409345.3	-	1	267	c.172G>A	c.(172-174)Gac>Aac	p.D58N		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	58					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACCAGGATGTCGGCGGCGGCC	0.642																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(172-174)Gac>Aac		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						40.0	46.0	44.0					2																	96781717		2202	4300	6502	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781717C>T	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.172G>A	2.37:g.96781717C>T	ENSP00000387281:p.Asp58Asn						p.D58N	NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN			1	267	-			58					Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.172G>A	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	c	29.8	5.035543	0.93630	.	.	ENSG00000222040	ENST00000409345	D	0.88431	-2.38	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.97356	0.9135	H	0.99929	4.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98583	1.0651	9	0.87932	D	0	.	14.755	0.69557	0.0:1.0:0.0:0.0	.	58	P18089	ADA2B_HUMAN	N	58	ENSP00000387281:D58N	ENSP00000387281:D58N	D	-	1	0	ADRA2B	96145444	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.648000	0.83479	2.334000	0.79466	0.450000	0.29827	GAC		0.642	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			3	41	0	0	0	1	0	3	41				
SNIP1	79753	broad.mit.edu	37	1	38019681	38019681	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:38019681A>G	ENST00000296215.6	-	1	222	c.150T>C	c.(148-150)ggT>ggC	p.G50G	DNALI1_ENST00000296218.7_5'Flank|DNALI1_ENST00000541606.1_5'Flank|SNIP1_ENST00000468040.1_Intron	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	50					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				ACGGGCTACCACCGGAGTGGT	0.731																																						ENST00000296215.6																			0				breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(148-150)ggT>ggC		Smad nuclear interacting protein 1							12.0	13.0	13.0					1																	38019681		2169	4248	6417	SO:0001819	synonymous_variant	79753				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	g.chr1:38019681A>G		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.150T>C	1.37:g.38019681A>G						SNIP1_ENST00000468040.1_Intron	p.G50G	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN			1	222	-		Myeloproliferative disorder(586;0.0393)	50					Q96SP9|Q9H9T7	Silent	SNP	ENST00000296215.6	37	c.150T>C	CCDS419.1																																																																																				0.731	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		9	17	0	0	0	1	0	9	17				
PLXND1	23129	broad.mit.edu	37	3	129303359	129303359	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:129303359A>G	ENST00000324093.4	-	6	2076	c.1898T>C	c.(1897-1899)aTg>aCg	p.M633T	PLXND1_ENST00000393239.1_Missense_Mutation_p.M633T	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	633					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGCCATCTCCATGCCACTGAG	0.632																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(1897-1899)aTg>aCg		plexin D1							83.0	77.0	79.0					3																	129303359		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129303359A>G	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.1898T>C	3.37:g.129303359A>G	ENSP00000317128:p.Met633Thr					PLXND1_ENST00000324093.4_Missense_Mutation_p.M633T	p.M633T			Q9Y4D7	PLXD1_HUMAN			6	2076	-			633					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.1898T>C	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	A	8.944	0.966628	0.18659	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.32515	1.51;1.45	4.77	4.77	0.60923	.	1.180340	0.05777	N	0.607897	T	0.25568	0.0622	L	0.36672	1.1	0.38528	D	0.9489	B	0.06786	0.001	B	0.04013	0.001	T	0.12142	-1.0559	10	0.09843	T	0.71	.	9.9494	0.41630	0.9175:0.0:0.0824:0.0	.	633	Q9Y4D7	PLXD1_HUMAN	T	633	ENSP00000317128:M633T;ENSP00000376931:M633T	ENSP00000317128:M633T	M	-	2	0	PLXND1	130786049	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	2.788000	0.47806	1.918000	0.55548	0.459000	0.35465	ATG		0.632	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		5	127	0	0	0	1	0	5	127				
ZNF213	7760	broad.mit.edu	37	16	3189024	3189024	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3189024T>C	ENST00000396878.3	+	5	1121	c.646T>C	c.(646-648)Tgg>Cgg	p.W216R	ZNF213_ENST00000574902.1_Missense_Mutation_p.W216R|ZNF213_ENST00000576416.1_Missense_Mutation_p.W216R|ZNF213_ENST00000416391.2_Missense_Mutation_p.W58R	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	216	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CCGGGAAGAATGGGGCACCCT	0.622																																						ENST00000396878.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						c.(646-648)Tgg>Cgg		zinc finger protein 213							75.0	82.0	80.0					16																	3189024		2197	4300	6497	SO:0001583	missense	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3189024T>C	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.646T>C	16.37:g.3189024T>C	ENSP00000380087:p.Trp216Arg					ZNF213_ENST00000416391.2_Missense_Mutation_p.W58R|ZNF213_ENST00000574902.1_Missense_Mutation_p.W216R|ZNF213_ENST00000576416.1_Missense_Mutation_p.W216R	p.W216R	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN			5	1121	+			216			KRAB.		A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	ENST00000396878.3	37	c.646T>C	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.236724	0.39498	.	.	ENSG00000085644	ENST00000396878;ENST00000416391	T;T	0.10288	2.89;2.89	4.99	3.87	0.44632	Krueppel-associated box (4);	0.180317	0.27442	N	0.019345	T	0.29882	0.0747	M	0.91872	3.25	0.39094	D	0.961151	B	0.30406	0.278	P	0.44732	0.459	T	0.09015	-1.0694	10	0.87932	D	0	.	9.2808	0.37727	0.0:0.0883:0.0:0.9117	.	216	O14771	ZN213_HUMAN	R	216;58	ENSP00000380087:W216R;ENSP00000403892:W58R	ENSP00000380087:W216R	W	+	1	0	ZNF213	3129025	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	2.241000	0.43097	0.817000	0.34445	0.533000	0.62120	TGG		0.622	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		25	132	0	0	0	1	0	25	132				
CACNA1A	773	broad.mit.edu	37	19	13423545	13423545	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:13423545T>C	ENST00000360228.5	-	12	1605	c.1606A>G	c.(1606-1608)Aaa>Gaa	p.K536E	CACNA1A_ENST00000573710.2_Missense_Mutation_p.K537E	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	537					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CCGTACATTTTTATAAACATT	0.443																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(1606-1608)Aaa>Gaa		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						81.0	78.0	79.0					19																	13423545		1846	4097	5943	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13423545T>C	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1606A>G	19.37:g.13423545T>C	ENSP00000353362:p.Lys536Glu					CACNA1A_ENST00000573710.2_Missense_Mutation_p.K537E	p.K536E	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		12	1605	-			537					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.1606A>G	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.748130	0.69533	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.99080	-5.4	5.11	5.11	0.69529	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99622	0.9862	H	0.99104	4.43	0.52099	D	0.999944	D;D;D	0.76494	0.999;0.998;0.992	D;D;D	0.83275	0.996;0.994;0.987	D	0.97426	1.0012	10	0.87932	D	0	.	14.187	0.65612	0.0:0.0:0.0:1.0	.	537;537;536	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	E	536;537;537;537	ENSP00000353362:K536E	ENSP00000317661:K537E	K	-	1	0	CACNA1A	13284545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.047000	0.60756	0.528000	0.53228	AAA		0.443	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		21	70	0	0	0	1	0	21	70				
GAS8	2622	broad.mit.edu	37	16	90095731	90095731	+	Intron	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:90095731G>A	ENST00000268699.4	+	2	212				GAS8_ENST00000536122.1_Intron|GAS8_ENST00000540721.1_Intron|C16orf3_ENST00000408886.2_Missense_Mutation_p.A7V	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		ctcctgccccgcagcagagga	0.557																																						ENST00000408886.2																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(19-21)gCg>gTg		chromosome 16 open reading frame 3							38.0	44.0	42.0					16																	90095731		2187	4275	6462	SO:0001627	intron_variant	750							g.chr16:90095731G>A	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1601G>A	16.37:g.90095731G>A						GAS8_ENST00000268699.4_Intron|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	p.A7V	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	1	578	-		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)	7					B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.20C>T	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	G	5.223	0.226689	0.09916	.	.	ENSG00000221819	ENST00000408886	T	0.54279	0.58	1.36	-2.72	0.05968	.	.	.	.	.	T	0.21468	0.0517	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.07809	-1.0753	6	.	.	.	.	0.2172	0.00164	0.2341:0.197:0.1774:0.3915	.	.	.	.	V	7	ENSP00000386218:A7V	.	A	-	2	0	C16orf3	88623232	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.399000	0.02506	-2.323000	0.00639	-0.481000	0.04817	GCG		0.557	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			30	79	0	0	0	1	0	30	79				
NPY4R	5540	broad.mit.edu	37	10	47087638	47087638	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:47087638C>T	ENST00000395716.1	+	2	940	c.855C>T	c.(853-855)aaC>aaT	p.N285N	NPY4R_ENST00000374312.1_Silent_p.N285N			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	285					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										ATGTGTTCAACAGCCTGGAAG	0.582																																						ENST00000374312.1																			0											c.(853-855)aaC>aaT		neuropeptide Y receptor Y4							166.0	128.0	141.0					10																	47087638		2203	4300	6503	SO:0001819	synonymous_variant	5540							g.chr10:47087638C>T		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.855C>T	10.37:g.47087638C>T						NPY4R_ENST00000395716.1_Silent_p.N285N	p.N285N	NM_005972.4	NP_005963.3					3	1274	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.855C>T	CCDS31193.1																																																																																				0.582	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			15	67	0	0	0	1	0	15	67				
LSM10	84967	broad.mit.edu	37	1	36859552	36859552	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:36859552G>A	ENST00000315732.2	-	2	328	c.179C>T	c.(178-180)aCg>aTg	p.T60M	LSM10_ENST00000476041.1_5'UTR	NM_032881.1	NP_116270.1	Q969L4	LSM10_HUMAN	LSM10, U7 small nuclear RNA associated	60					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)			upper_aerodigestive_tract(1)|urinary_tract(1)	2		Myeloproliferative disorder(586;0.0393)				CCAACGGTCCGTGTAGGTGAC	0.577																																						ENST00000315732.2																			0				upper_aerodigestive_tract(1)|urinary_tract(1)	2						c.(178-180)aCg>aTg		LSM10, U7 small nuclear RNA associated							177.0	134.0	148.0					1																	36859552		2203	4300	6503	SO:0001583	missense	84967				histone mRNA metabolic process|mRNA processing|RNA splicing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	Cajal body|U7 snRNP	histone pre-mRNA DCP binding|protein binding	g.chr1:36859552G>A	AF394685	CCDS408.1	1p34.3	2008-02-05			ENSG00000181817	ENSG00000181817			17562	protein-coding gene	gene with protein product						11574479	Standard	NM_032881		Approved	MGC15749	uc001cao.1	Q969L4	OTTHUMG00000008140	ENST00000315732.2:c.179C>T	1.37:g.36859552G>A	ENSP00000319341:p.Thr60Met					LSM10_ENST00000476041.1_5'UTR	p.T60M	NM_032881.1	NP_116270.1	Q969L4	LSM10_HUMAN			2	328	-		Myeloproliferative disorder(586;0.0393)	60						Missense_Mutation	SNP	ENST00000315732.2	37	c.179C>T	CCDS408.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165492	0.57476	.	.	ENSG00000181817	ENST00000315732	T	0.51325	0.71	6.17	5.26	0.73747	Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.096756	0.64402	D	0.000003	T	0.69878	0.3160	M	0.89353	3.025	0.37645	D	0.92217	D	0.65815	0.995	P	0.58577	0.841	T	0.80374	-0.1409	10	0.72032	D	0.01	-14.9975	15.2247	0.73342	0.0:0.2658:0.7342:0.0	.	60	Q969L4	LSM10_HUMAN	M	60	ENSP00000319341:T60M	ENSP00000319341:T60M	T	-	2	0	LSM10	36632139	1.000000	0.71417	0.931000	0.37212	0.805000	0.45488	3.693000	0.54735	1.624000	0.50355	-0.150000	0.13652	ACG		0.577	LSM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022294.1	NM_032881		21	85	0	0	0	1	0	21	85				
PIK3C2B	5287	broad.mit.edu	37	1	204412676	204412676	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:204412676A>G	ENST00000367187.3	-	20	3473	c.2917T>C	c.(2917-2919)Tat>Cat	p.Y973H	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.Y945H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	973	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCCAGCAGATACTGGTAGCGG	0.572																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(2917-2919)Tat>Cat		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							127.0	125.0	126.0					1																	204412676		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204412676A>G	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.2917T>C	1.37:g.204412676A>G	ENSP00000356155:p.Tyr973His					PIK3C2B_ENST00000424712.2_Missense_Mutation_p.Y945H	p.Y973H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		20	3473	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		973					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.2917T>C	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	A	11.25	1.583103	0.28268	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.63096	-0.02;-0.02	5.98	5.98	0.97165	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.058141	0.64402	D	0.000001	T	0.33933	0.0880	N	0.01729	-0.75	0.31642	N	0.647843	B;B	0.18741	0.0;0.03	B;B	0.24974	0.001;0.057	T	0.40136	-0.9579	10	0.15066	T	0.55	.	10.4866	0.44726	0.9272:0.0:0.0728:0.0	.	945;973	F5GWN5;O00750	.;P3C2B_HUMAN	H	973;945	ENSP00000356155:Y973H;ENSP00000400561:Y945H	ENSP00000356155:Y973H	Y	-	1	0	PIK3C2B	202679299	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.279000	0.51670	2.296000	0.77279	0.482000	0.46254	TAT		0.572	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		55	198	0	0	0	1	0	55	198				
ASB2	51676	broad.mit.edu	37	14	94404137	94404137	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:94404137G>T	ENST00000315988.4	-	7	2022	c.1534C>A	c.(1534-1536)Ctc>Atc	p.L512I	RP11-131H24.4_ENST00000557646.1_5'Flank|ASB2_ENST00000556337.1_5'Flank|ASB2_ENST00000555019.1_Missense_Mutation_p.L560I	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	512					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TAGTCCAGGAGGACATCGATG	0.582																																						ENST00000555019.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(1678-1680)Ctc>Atc		ankyrin repeat and SOCS box containing 2							86.0	72.0	77.0					14																	94404137		2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94404137G>T	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1534C>A	14.37:g.94404137G>T	ENSP00000320675:p.Leu512Ile					ASB2_ENST00000315988.4_Missense_Mutation_p.L512I	p.L560I	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	9	2108	-		all_cancers(154;0.13)	512			SOCS box.		B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.1678C>A	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274242	0.95459	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507	T;T;T	0.76448	-1.02;-0.89;-0.87	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.89245	0.6660	M	0.83012	2.62	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.85130	0.997;0.991;0.997	D	0.90717	0.4632	10	0.72032	D	0.01	-17.2631	18.5726	0.91142	0.0:0.0:1.0:0.0	.	528;560;512	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	I	560;528;512;458;458	ENSP00000451575:L560I;ENSP00000320675:L512I;ENSP00000450940:L458I	ENSP00000320675:L512I	L	-	1	0	ASB2	93473890	1.000000	0.71417	0.964000	0.40570	0.958000	0.62258	4.809000	0.62591	2.387000	0.81309	0.462000	0.41574	CTC		0.582	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			7	67	1	0	8.12818e-05	1	8.26188e-05	7	67				
POM121	9883	broad.mit.edu	37	7	72413274	72413274	+	Silent	SNP	C	C	T	rs148530018	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:72413274C>T	ENST00000434423.2	+	11	2742	c.2742C>T	c.(2740-2742)agC>agT	p.S914S	POM121_ENST00000358357.3_Silent_p.S649S|POM121_ENST00000395270.1_Silent_p.S649S|POM121_ENST00000257622.4_Silent_p.S649S|POM121_ENST00000446813.1_Silent_p.S649S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	914	Pore side. {ECO:0000255}.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCAGCAGCAGCGCTGCCGACT	0.627													.|||	3	0.000599042	0.0	0.0029	5008	,	,		18591	0.0		0.001	False		,,,				2504	0.0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1945-1947)agC>agT		POM121 transmembrane nucleoporin		C		3,4213		0,3,2105	41.0	53.0	49.0		1947	1.4	0.0	7	dbSNP_134	49	18,8498		0,18,4240	no	coding-synonymous	POM121	NM_172020.2		0,21,6345	TT,TC,CC		0.2114,0.0712,0.1649		649/985	72413274	21,12711	2108	4258	6366	SO:0001819	synonymous_variant	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413274C>T	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2742C>T	7.37:g.72413274C>T						POM121_ENST00000358357.3_Silent_p.S649S|POM121_ENST00000434423.2_Silent_p.S914S|POM121_ENST00000446813.1_Silent_p.S649S|POM121_ENST00000257622.4_Silent_p.S649S	p.S649S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	2988	+		Lung NSC(55;0.163)	914			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37	c.1947C>T																																																																																					0.627	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			49	151	0	0	0	1	0	49	151				
SARAF	51669	broad.mit.edu	37	8	29931572	29931572	+	Splice_Site	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:29931572C>T	ENST00000256255.6	-	2	361		c.e2-1		TMEM66_ENST00000545648.1_Splice_Site|TMEM66_ENST00000521083.1_Splice_Site|TMEM66_ENST00000536273.1_Intron	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN							calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		AACATTCTGTCTGAAACAGCA	0.463																																						ENST00000256255.6																			0				endometrium(2)|large_intestine(1)|lung(11)	14						c.e2-1		transmembrane protein 66							96.0	89.0	92.0					8																	29931572		2203	4300	6503	SO:0001630	splice_region_variant	51669					integral to membrane		g.chr8:29931572C>T																												ENST00000256255.6:c.104-1G>A	8.37:g.29931572C>T						TMEM66_ENST00000536273.1_Intron|TMEM66_ENST00000545648.1_Splice_Site|TMEM66_ENST00000521083.1_Splice_Site		NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	2	361	-								B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Splice_Site	SNP	ENST00000256255.6	37		CCDS6074.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695365	0.68386	.	.	ENSG00000133872	ENST00000256255;ENST00000521265	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7502	0.77980	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM66	30051114	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	5.322000	0.65852	2.574000	0.86865	0.655000	0.94253	.		0.463	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4		Intron	9	120	0	0	0	1	0	9	120				
ABCA13	154664	broad.mit.edu	37	7	48314867	48314867	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:48314867T>C	ENST00000435803.1	+	17	5628	c.5604T>C	c.(5602-5604)ggT>ggC	p.G1868G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1868					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTCCCCAAGGTGAAGATTCAC	0.418																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(5602-5604)ggT>ggC		ATP-binding cassette, sub-family A (ABC1), member 13							60.0	59.0	59.0					7																	48314867		1852	4081	5933	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314867T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5604T>C	7.37:g.48314867T>C							p.G1868G	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	5628	+			1868					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.5604T>C	CCDS47584.1																																																																																				0.418	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		15	50	0	0	0	1	0	15	50				
ALS2CL	259173	broad.mit.edu	37	3	46719881	46719881	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:46719881T>C	ENST00000318962.4	-	16	1710		c.e16-2		ALS2CL_ENST00000415953.1_Splice_Site|ALS2CL_ENST00000383742.3_5'Flank	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like						endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GACCTTGCCCTGGGAGCCAGG	0.612																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.e16-2		ALS2 C-terminal like							81.0	62.0	69.0					3																	46719881		2203	4300	6503	SO:0001630	splice_region_variant	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46719881T>C	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1627-2A>G	3.37:g.46719881T>C						ALS2CL_ENST00000415953.1_Splice_Site		NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	16	1710	-								Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Splice_Site	SNP	ENST00000318962.4	37		CCDS2743.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.982462	0.74474	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.529	0.61611	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALS2CL	46694885	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	5.710000	0.68392	2.083000	0.62718	0.459000	0.35465	.		0.612	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129	Intron	23	50	0	0	0	1	0	23	50				
FAM20B	9917	broad.mit.edu	37	1	179033563	179033563	+	Silent	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:179033563C>G	ENST00000263733.4	+	6	1206	c.870C>G	c.(868-870)cgC>cgG	p.R290R		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	290						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						ATGCTGACCGCCATCACTATG	0.493																																						ENST00000263733.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						c.(868-870)cgC>cgG		family with sequence similarity 20, member B							114.0	101.0	106.0					1																	179033563		2203	4300	6503	SO:0001819	synonymous_variant	9917					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:179033563C>G	AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.870C>G	1.37:g.179033563C>G							p.R290R	NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN			6	1206	+			290					Q5W0C3|Q5W0C4	Silent	SNP	ENST00000263733.4	37	c.870C>G	CCDS1328.1																																																																																				0.493	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864		20	66	0	0	0	1	0	20	66				
FRMD4A	55691	broad.mit.edu	37	10	13698938	13698938	+	Missense_Mutation	SNP	C	C	T	rs368369588		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:13698938C>T	ENST00000357447.2	-	22	3019	c.2651G>A	c.(2650-2652)cGc>cAc	p.R884H	FRMD4A_ENST00000358621.4_Missense_Mutation_p.R869H|FRMD4A_ENST00000378503.1_Missense_Mutation_p.R884H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	884					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCCGCCGCCGCGCCAGCTCTC	0.711																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(2650-2652)cGc>cAc		FERM domain containing 4A		C	HIS/ARG	1,4311		0,1,2155	8.0	9.0	9.0		2651	2.6	0.8	10		9	0,8508		0,0,4254	no	missense	FRMD4A	NM_018027.3	29	0,1,6409	TT,TC,CC		0.0,0.0232,0.0078	benign	884/1040	13698938	1,12819	2156	4254	6410	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13698938C>T	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2651G>A	10.37:g.13698938C>T	ENSP00000350032:p.Arg884His					FRMD4A_ENST00000378503.1_Missense_Mutation_p.R884H|FRMD4A_ENST00000358621.4_Missense_Mutation_p.R869H	p.R884H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			22	3019	-			884					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.2651G>A	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	4.830	0.154230	0.09236	2.32E-4	0.0	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.83914	-1.78;-1.78;-1.78	4.81	2.56	0.30785	.	0.361519	0.29846	N	0.011042	T	0.55321	0.1913	N	0.03608	-0.345	0.24143	N	0.995729	B	0.02656	0.0	B	0.01281	0.0	T	0.36480	-0.9746	10	0.15952	T	0.53	-5.0338	1.9505	0.03365	0.2593:0.2369:0.0:0.5038	.	884	Q9P2Q2	FRM4A_HUMAN	H	869;884;884	ENSP00000351438:R869H;ENSP00000350032:R884H;ENSP00000367764:R884H	ENSP00000350032:R884H	R	-	2	0	FRMD4A	13738944	0.993000	0.37304	0.758000	0.31321	0.224000	0.24922	2.720000	0.47252	0.363000	0.24346	0.174000	0.16983	CGC		0.711	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		4	18	0	0	0	1	0	4	18				
SNAP25	6616	broad.mit.edu	37	20	10280057	10280057	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:10280057G>T	ENST00000254976.2	+	7	760	c.549G>T	c.(547-549)gaG>gaT	p.E183D	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000495883.1_3'UTR|SNAP25_ENST00000304886.2_Missense_Mutation_p.E183D|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	183	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)			endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GGATCATGGAGAAGGTGAGCA	0.522																																						ENST00000254976.2																			0				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18						c.(547-549)gaG>gaT		synaptosomal-associated protein, 25kDa	Botulinum Toxin Type A(DB00083)						78.0	67.0	70.0					20																	10280057		2203	4300	6503	SO:0001583	missense	6616				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		g.chr20:10280057G>T		CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.549G>T	20.37:g.10280057G>T	ENSP00000254976:p.Glu183Asp					SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Missense_Mutation_p.E183D|SNAP25_ENST00000495883.1_3'UTR	p.E183D	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN			7	760	+			183			t-SNARE coiled-coil homology 2.		B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Missense_Mutation	SNP	ENST00000254976.2	37	c.549G>T	CCDS13110.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704286	0.48412	.	.	ENSG00000132639	ENST00000254976;ENST00000304886	.	.	.	6.17	5.23	0.72850	Target SNARE coiled-coil domain (3);	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	N	0.16833	0.445	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.09377	0.002;0.004	T	0.32771	-0.9894	9	0.02654	T	1	-9.1776	15.8853	0.79244	0.0647:0.0:0.9353:0.0	.	183;183	P60880-2;P60880	.;SNP25_HUMAN	D	183	.	ENSP00000254976:E183D	E	+	3	2	SNAP25	10228057	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.938000	0.56583	1.627000	0.50400	0.655000	0.94253	GAG		0.522	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077976.3	NM_130811		5	53	1	0	0.000602214	1	0.000609374	5	53				
CBLN4	140689	broad.mit.edu	37	20	54579152	54579152	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:54579152A>G	ENST00000064571.2	-	1	1376	c.76T>C	c.(76-78)Tgg>Cgg	p.W26R		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	26					protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TTCTGTGCCCAGACGGGCAGC	0.721																																						ENST00000064571.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17						c.(76-78)Tgg>Cgg		cerebellin 4 precursor							28.0	25.0	26.0					20																	54579152		2201	4298	6499	SO:0001583	missense	140689					cell junction|extracellular region|synapse		g.chr20:54579152A>G	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.76T>C	20.37:g.54579152A>G	ENSP00000064571:p.Trp26Arg						p.W26R	NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		1	1376	-			26					A8K0S5	Missense_Mutation	SNP	ENST00000064571.2	37	c.76T>C	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	A	12.39	1.922776	0.33908	.	.	ENSG00000054803	ENST00000064571	D	0.83673	-1.75	4.86	2.6	0.31112	.	0.242889	0.41823	D	0.000801	T	0.61800	0.2376	N	0.02830	-0.485	0.29450	N	0.858519	P	0.50617	0.937	P	0.49276	0.605	T	0.59343	-0.7472	10	0.13853	T	0.58	-4.8121	3.0637	0.06207	0.485:0.0:0.3335:0.1815	.	26	Q9NTU7	CBLN4_HUMAN	R	26	ENSP00000064571:W26R	ENSP00000064571:W26R	W	-	1	0	CBLN4	54012559	0.993000	0.37304	1.000000	0.80357	0.855000	0.48748	0.348000	0.20031	0.813000	0.34350	0.533000	0.62120	TGG		0.721	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		3	21	0	0	0	1	0	3	21				
MAP7D2	256714	broad.mit.edu	37	X	20134903	20134903	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:20134903G>A	ENST00000379651.3	-	1	113	c.95C>T	c.(94-96)gCg>gTg	p.A32V	MAP7D2_ENST00000443379.3_Missense_Mutation_p.A32V|MAP7D2_ENST00000452324.3_5'Flank|MAP7D2_ENST00000379643.5_Missense_Mutation_p.A32V	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	32			A -> P (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GGTCCGCACCGCGCCCGGTTC	0.726																																						ENST00000379651.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(94-96)gCg>gTg		MAP7 domain containing 2							18.0	19.0	18.0					X																	20134903		2197	4292	6489	SO:0001583	missense	256714							g.chrX:20134903G>A	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.95C>T	X.37:g.20134903G>A	ENSP00000368972:p.Ala32Val					MAP7D2_ENST00000379643.5_Missense_Mutation_p.A32V|MAP7D2_ENST00000443379.3_Missense_Mutation_p.A32V	p.A32V	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			1	113	-			32		A -> P (in a breast cancer sample; somatic mutation).			B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.95C>T	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716947	0.30413	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000443379;ENST00000330274	T;T;T	0.05513	3.43;3.43;3.43	3.22	2.34	0.29019	.	0.475226	0.15710	N	0.248466	T	0.03434	0.0099	N	0.22421	0.69	0.09310	N	0.999999	P;P;P	0.42456	0.672;0.78;0.672	B;B;B	0.31547	0.062;0.132;0.062	T	0.44221	-0.9342	10	0.34782	T	0.22	-0.9496	7.4568	0.27272	0.0:0.3123:0.6877:0.0	.	32;32;32	B7Z3S7;Q96T17-2;Q96T17	.;.;MA7D2_HUMAN	V	32	ENSP00000368972:A32V;ENSP00000368964:A32V;ENSP00000388239:A32V	ENSP00000332677:A32V	A	-	2	0	MAP7D2	20044824	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	0.418000	0.21230	0.715000	0.32103	0.544000	0.68410	GCG		0.726	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		5	8	0	0	0	1	0	5	8				
ANK3	288	broad.mit.edu	37	10	61898753	61898753	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:61898753T>C	ENST00000280772.2	-	24	2898	c.2707A>G	c.(2707-2709)Atg>Gtg	p.M903V	ANK3_ENST00000373827.2_Missense_Mutation_p.M897V|ANK3_ENST00000355288.2_Missense_Mutation_p.M37V|ANK3_ENST00000503366.1_Missense_Mutation_p.M904V|ANK3_ENST00000460468.1_Missense_Mutation_p.M67V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	903					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTAAAGCCCATGTAACCCTCT	0.448																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(2707-2709)Atg>Gtg		ankyrin 3, node of Ranvier (ankyrin G)							172.0	148.0	156.0					10																	61898753		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61898753T>C	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2707A>G	10.37:g.61898753T>C	ENSP00000280772:p.Met903Val					ANK3_ENST00000373827.2_Missense_Mutation_p.M897V|ANK3_ENST00000460468.1_Missense_Mutation_p.M67V|ANK3_ENST00000503366.1_Missense_Mutation_p.M904V|ANK3_ENST00000355288.2_Missense_Mutation_p.M37V	p.M903V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			24	2898	-			903					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.2707A>G	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.121460	0.37436	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348;ENST00000373815;ENST00000513049;ENST00000506635;ENST00000460468;ENST00000474360	T;T;T;T;T;T;T;T;T	0.62364	0.03;2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23	5.91	4.79	0.61399	.	0.277746	0.25645	N	0.029257	T	0.43389	0.1245	N	0.16066	0.365	0.35805	D	0.8234	B;B;B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.001;0.001;0.0;0.0;0.001;0.001;0.002;0.0	T	0.44390	-0.9331	10	0.29301	T	0.29	.	11.1835	0.48642	0.0:0.0724:0.0:0.9276	.	904;37;543;426;897;903;138;37	E9PE32;A8KA62;E7EMJ1;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;.;ANK3_HUMAN;.;.	V	903;897;37;37;904;883;138;543;538;36;426;28;28;28;67;95	ENSP00000280772:M903V;ENSP00000362933:M897V;ENSP00000347436:M37V;ENSP00000425236:M904V;ENSP00000362921:M28V;ENSP00000426582:M28V;ENSP00000422506:M28V;ENSP00000426690:M67V;ENSP00000422657:M95V	ENSP00000280772:M903V	M	-	1	0	ANK3	61568759	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.938000	0.40203	1.081000	0.41110	0.533000	0.62120	ATG		0.448	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		29	110	0	0	0	1	0	29	110				
TBC1D9B	23061	broad.mit.edu	37	5	179306696	179306696	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:179306696T>C	ENST00000356834.3	-	8	1385	c.1348A>G	c.(1348-1350)Acc>Gcc	p.T450A	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.T450A	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	450						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGATGCGGTTGGCGCCTCC	0.667																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(1348-1350)Acc>Gcc		TBC1 domain family, member 9B (with GRAM domain)							59.0	69.0	65.0					5																	179306696		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179306696T>C	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1348A>G	5.37:g.179306696T>C	ENSP00000349291:p.Thr450Ala					TBC1D9B_ENST00000355235.3_Missense_Mutation_p.T450A	p.T450A	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1385	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	450					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.1348A>G	CCDS43408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.07|19.07	3.755768|3.755768	0.69648|0.69648	.|.	.|.	ENSG00000197226|ENSG00000197226	ENST00000522472|ENST00000356834;ENST00000355235	.|T;T	.|0.09723	.|2.95;3.03	4.69|4.69	4.69|4.69	0.59074|0.59074	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.25865|0.25865	0.0630|0.0630	M|M	0.69523|0.69523	2.12|2.12	0.80722|0.80722	D|D	1|1	.|P;D;B	.|0.54047	.|0.94;0.964;0.095	.|P;P;B	.|0.62184	.|0.795;0.899;0.081	T|T	0.07139|0.07139	-1.0788|-1.0788	5|10	.|0.14656	.|T	.|0.56	-17.4851|-17.4851	12.993|12.993	0.58630|0.58630	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|450;450;450	.|A1L3A9;Q66K14-2;Q66K14	.|.;.;TBC9B_HUMAN	S|A	3|450	.|ENSP00000349291:T450A;ENSP00000347375:T450A	.|ENSP00000347375:T450A	N|T	-|-	2|1	0|0	TBC1D9B|TBC1D9B	179239302|179239302	1.000000|1.000000	0.71417|0.71417	0.021000|0.021000	0.16686|0.16686	0.030000|0.030000	0.12068|0.12068	4.248000|4.248000	0.58760|0.58760	1.758000|1.758000	0.51981|0.51981	0.454000|0.454000	0.30748|0.30748	AAC|ACC		0.667	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		34	106	0	0	0	1	0	34	106				
SMCR8	140775	broad.mit.edu	37	17	18220641	18220641	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:18220641G>A	ENST00000406438.3	+	1	2018	c.1538G>A	c.(1537-1539)aGc>aAc	p.S513N	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	513						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AGGACCATCAGCGAGGACAGT	0.537																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1537-1539)aGc>aAc		Smith-Magenis syndrome chromosome region, candidate 8							77.0	76.0	76.0					17																	18220641		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18220641G>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.1538G>A	17.37:g.18220641G>A	ENSP00000385025:p.Ser513Asn						p.S513N	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	2018	+			513					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.1538G>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224692	0.79576	.	.	ENSG00000176994	ENST00000406438	T	0.35421	1.31	5.91	5.91	0.95273	.	0.053963	0.64402	D	0.000001	T	0.53061	0.1773	L	0.34521	1.04	0.51233	D	0.999917	D	0.89917	1.0	D	0.83275	0.996	T	0.51156	-0.8741	10	0.62326	D	0.03	-53.895	20.2983	0.98569	0.0:0.0:1.0:0.0	.	513	Q8TEV9	SMCR8_HUMAN	N	513	ENSP00000385025:S513N	ENSP00000385025:S513N	S	+	2	0	SMCR8	18161366	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	9.414000	0.97362	2.802000	0.96397	0.655000	0.94253	AGC		0.537	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		21	145	0	0	0	1	0	21	145				
DHX16	8449	broad.mit.edu	37	6	30624426	30624426	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:30624426A>G	ENST00000376442.3	-	14	2454	c.2259T>C	c.(2257-2259)ccT>ccC	p.P753P	DHX16_ENST00000480966.1_5'Flank|DHX16_ENST00000376437.5_Silent_p.P272P	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	753	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						TCTGGATCTCAGGCACTGTGG	0.597																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(2257-2259)ccT>ccC		DEAH (Asp-Glu-Ala-His) box polypeptide 16							152.0	140.0	144.0					6																	30624426		1511	2709	4220	SO:0001819	synonymous_variant	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30624426A>G	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.2259T>C	6.37:g.30624426A>G						DHX16_ENST00000376437.5_Silent_p.P272P	p.P753P	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			14	2454	-			753			Helicase C-terminal.		O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	ENST00000376442.3	37	c.2259T>C	CCDS4685.1																																																																																				0.597	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		20	128	0	0	0	1	0	20	128				
TBC1D14	57533	broad.mit.edu	37	4	7011633	7011633	+	Silent	SNP	T	T	C	rs547717770		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:7011633T>C	ENST00000409757.4	+	10	1600	c.1476T>C	c.(1474-1476)agT>agC	p.S492S	TBC1D14_ENST00000448507.1_Silent_p.S492S|TBC1D14_ENST00000451522.2_Silent_p.S212S|TBC1D14_ENST00000410031.1_Silent_p.S264S|TBC1D14_ENST00000446947.2_Silent_p.S139S	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	492	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TGTTGCACAGTATTTTGGGCG	0.373													T|||	1	0.000199681	0.0	0.0014	5008	,	,		16823	0.0		0.0	False		,,,				2504	0.0					ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(1474-1476)agT>agC		TBC1 domain family, member 14							358.0	324.0	335.0					4																	7011633		2203	4300	6503	SO:0001819	synonymous_variant	57533					intracellular	Rab GTPase activator activity	g.chr4:7011633T>C	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1476T>C	4.37:g.7011633T>C						TBC1D14_ENST00000451522.2_Silent_p.S212S|TBC1D14_ENST00000410031.1_Silent_p.S264S|TBC1D14_ENST00000446947.2_Silent_p.S139S|TBC1D14_ENST00000448507.1_Silent_p.S492S	p.S492S	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			10	1600	+			492			Rab-GAP TBC.		B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Silent	SNP	ENST00000409757.4	37	c.1476T>C	CCDS3394.2																																																																																				0.373	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		44	171	0	0	0	1	0	44	171				
EIF5B	9669	broad.mit.edu	37	2	99977764	99977764	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:99977764T>C	ENST00000289371.6	+	4	602	c.400T>C	c.(400-402)Tac>Cac	p.Y134H		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	134					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGTGGAAATGTACTCTGGGAG	0.353																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(400-402)Tac>Cac		eukaryotic translation initiation factor 5B							78.0	81.0	80.0					2																	99977764		1833	4080	5913	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99977764T>C	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.400T>C	2.37:g.99977764T>C	ENSP00000289371:p.Tyr134His						p.Y134H	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			4	602	+			134					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.400T>C	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	T	5.331	0.246323	0.10130	.	.	ENSG00000158417	ENST00000289371	T	0.41065	1.01	5.77	-2.1	0.07210	.	.	.	.	.	T	0.21801	0.0525	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21348	-1.0248	8	.	.	.	1.1355	3.726	0.08474	0.2926:0.378:0.0:0.3293	.	134	O60841	IF2P_HUMAN	H	134	ENSP00000289371:Y134H	.	Y	+	1	0	EIF5B	99344196	0.000000	0.05858	0.005000	0.12908	0.540000	0.34992	0.314000	0.19432	-0.119000	0.11830	0.528000	0.53228	TAC		0.353	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		31	82	0	0	0	1	0	31	82				
SCAF8	22828	broad.mit.edu	37	6	155153834	155153834	+	Missense_Mutation	SNP	C	C	T	rs567152745		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:155153834C>T	ENST00000367178.3	+	20	3697	c.3121C>T	c.(3121-3123)Cgg>Tgg	p.R1041W	TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000417268.1_Missense_Mutation_p.R1041W|SCAF8_ENST00000367186.4_Missense_Mutation_p.R1107W	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1041	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TGTGGTTGGGCGGCCTATAGA	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16663	0.0		0.0	False		,,,				2504	0.0					ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(3121-3123)Cgg>Tgg		SR-related CTD-associated factor 8							54.0	55.0	55.0					6																	155153834		2201	4300	6501	SO:0001583	missense	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155153834C>T	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.3121C>T	6.37:g.155153834C>T	ENSP00000356146:p.Arg1041Trp					SCAF8_ENST00000417268.1_Missense_Mutation_p.R1041W|TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000367186.4_Missense_Mutation_p.R1107W	p.R1041W	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			20	3697	+			1041			Pro-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.3121C>T	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207620	0.39003	.	.	ENSG00000213079;ENSG00000213079;ENSG00000213079;ENSG00000146426	ENST00000367178;ENST00000417268;ENST00000367186;ENST00000528928	T;T;T	0.49139	0.82;0.82;0.79	5.59	5.59	0.84812	.	0.304055	0.27266	U	0.020146	T	0.44767	0.1309	N	0.24115	0.695	0.80722	D	1	B;B;D	0.89917	0.017;0.017;1.0	B;B;D	0.69654	0.005;0.005;0.965	T	0.50180	-0.8858	10	0.66056	D	0.02	.	13.6	0.62013	0.1547:0.8453:0.0:0.0	.	1086;1107;1041	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	W	1041;1041;1107;2	ENSP00000356146:R1041W;ENSP00000413098:R1041W;ENSP00000356154:R1107W	ENSP00000356146:R1041W	R	+	1	2	TIAM2;SCAF8	155195526	1.000000	0.71417	0.945000	0.38365	0.862000	0.49288	3.488000	0.53229	2.644000	0.89710	0.561000	0.74099	CGG		0.483	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		27	71	0	0	0	1	0	27	71				
CYP8B1	1582	broad.mit.edu	37	3	42916116	42916116	+	Missense_Mutation	SNP	G	G	A	rs141302264		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:42916116G>A	ENST00000316161.4	-	1	1517	c.1193C>T	c.(1192-1194)cCt>cTt	p.P398L	CYP8B1_ENST00000437102.1_Missense_Mutation_p.P398L|RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	398					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)	p.P398H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GGTGGGCTCAGGGTGGATGTC	0.547																																						ENST00000316161.4																			1	Substitution - Missense(1)	p.P398H(1)	lung(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(1192-1194)cCt>cTt		cytochrome P450, family 8, subfamily B, polypeptide 1		G	LEU/PRO	0,4406		0,0,2203	131.0	129.0	129.0		1193	5.4	0.9	3	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYP8B1	NM_004391.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	398/502	42916116	1,13005	2203	4300	6503	SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42916116G>A	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.1193C>T	3.37:g.42916116G>A	ENSP00000318867:p.Pro398Leu					CYP8B1_ENST00000437102.1_Missense_Mutation_p.P398L|ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron	p.P398L	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	1517	-			398					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.1193C>T	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656089	0.88056	0.0	1.16E-4	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.01584	4.75;4.75	5.41	5.41	0.78517	.	0.079048	0.50627	D	0.000104	T	0.08492	0.0211	M	0.83312	2.635	0.58432	D	0.999999	P;P	0.46859	0.885;0.726	P;P	0.51297	0.665;0.665	T	0.00722	-1.1594	10	0.59425	D	0.04	-16.5667	17.9417	0.89027	0.0:0.0:1.0:0.0	.	398;398	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	L	398	ENSP00000404499:P398L;ENSP00000318867:P398L	ENSP00000318867:P398L	P	-	2	0	CYP8B1	42891120	1.000000	0.71417	0.908000	0.35775	0.773000	0.43773	6.618000	0.74214	2.523000	0.85059	0.561000	0.74099	CCT		0.547	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		15	232	0	0	0	1	0	15	232				
SLC22A7	10864	broad.mit.edu	37	6	43267405	43267405	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:43267405A>G	ENST00000372585.5	+	4	639	c.544A>G	c.(544-546)Acc>Gcc	p.T182A	SLC22A7_ENST00000372589.3_Missense_Mutation_p.T180A|SLC22A7_ENST00000372574.3_Missense_Mutation_p.T180A|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	182					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CTACGTGAGTACCCTGGTGCT	0.577																																						ENST00000372585.5																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26						c.(544-546)Acc>Gcc		solute carrier family 22 (organic anion transporter), member 7							118.0	121.0	120.0					6																	43267405		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43267405A>G	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.544A>G	6.37:g.43267405A>G	ENSP00000361666:p.Thr182Ala					SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Missense_Mutation_p.T180A|SLC22A7_ENST00000372574.3_Missense_Mutation_p.T180A	p.T182A	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		4	639	+			182					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.544A>G	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	A	7.714	0.695816	0.15106	.	.	ENSG00000137204	ENST00000451757;ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	5.56	-11.1	0.00147	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.117940	0.06655	N	0.763380	T	0.07999	0.0200	N	0.21545	0.675	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.15052	0.012;0.007;0.007	T	0.06320	-1.0833	10	0.06625	T	0.88	.	8.1756	0.31281	0.3668:0.0:0.1185:0.5148	.	182;180;180	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	A	51;241;180;182;180	ENSP00000416052:T51A;ENSP00000411818:T241A;ENSP00000361670:T180A;ENSP00000361666:T182A;ENSP00000361655:T180A	ENSP00000361655:T180A	T	+	1	0	SLC22A7	43375383	0.000000	0.05858	0.010000	0.14722	0.972000	0.66771	-3.861000	0.00348	-3.909000	0.00092	-0.464000	0.05259	ACC		0.577	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			16	263	0	0	0	1	0	16	263				
NLGN2	57555	broad.mit.edu	37	17	7318086	7318086	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:7318086G>A	ENST00000302926.2	+	4	836	c.763G>A	c.(763-765)Gac>Aac	p.D255N	NLGN2_ENST00000575301.1_Missense_Mutation_p.D255N	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	255					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CTTTGGGGGCGACCCCGAGCG	0.612																																						ENST00000302926.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22						c.(763-765)Gac>Aac		neuroligin 2							61.0	66.0	64.0					17																	7318086		2203	4300	6503	SO:0001583	missense	57555				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	g.chr17:7318086G>A	AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.763G>A	17.37:g.7318086G>A	ENSP00000305288:p.Asp255Asn					NLGN2_ENST00000575301.1_Missense_Mutation_p.D255N	p.D255N	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN			4	836	+		Prostate(122;0.157)	255					Q9P2I1	Missense_Mutation	SNP	ENST00000302926.2	37	c.763G>A	CCDS11103.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622837	0.87460	.	.	ENSG00000169992	ENST00000302926	T	0.75938	-0.98	4.82	4.82	0.62117	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.80226	0.4584	L	0.46819	1.47	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.76860	-0.2803	10	0.27785	T	0.31	.	15.4519	0.75279	0.0:0.0:1.0:0.0	.	255	Q8NFZ4	NLGN2_HUMAN	N	255	ENSP00000305288:D255N	ENSP00000305288:D255N	D	+	1	0	NLGN2	7258810	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.576000	0.98192	2.526000	0.85167	0.561000	0.74099	GAC		0.612	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226941.2	NM_020795		33	96	0	0	0	1	0	33	96				
LTBP4	8425	broad.mit.edu	37	19	41119873	41119873	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41119873A>G	ENST00000308370.7	+	21	2810	c.2810A>G	c.(2809-2811)aAc>aGc	p.N937S	LTBP4_ENST00000243562.9_Missense_Mutation_p.N35S|LTBP4_ENST00000545697.1_Missense_Mutation_p.N390S|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.N870S|LTBP4_ENST00000204005.9_Missense_Mutation_p.N900S	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	937	Cys-rich.|EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATCTGTACCAACACCGACGGC	0.697																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(2809-2811)aAc>aGc		latent transforming growth factor beta binding protein 4							37.0	42.0	40.0					19																	41119873		2052	4194	6246	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41119873A>G	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2810A>G	19.37:g.41119873A>G	ENSP00000311905:p.Asn937Ser					LTBP4_ENST00000396819.3_Missense_Mutation_p.N870S|LTBP4_ENST00000204005.9_Missense_Mutation_p.N900S|LTBP4_ENST00000243562.9_Missense_Mutation_p.N35S|LTBP4_ENST00000545697.1_Missense_Mutation_p.N390S|LTBP4_ENST00000602240.1_3'UTR	p.N937S	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		21	2810	+			937			Cys-rich.|EGF-like 11; calcium-binding (Potential).		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.2810A>G		.	.	.	.	.	.	.	.	.	.	A	32	5.133988	0.94517	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562	D;D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13;-5.13	4.61	4.61	0.57282	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.43919	D	0.000513	D	0.99302	0.9756	H	0.94503	3.545	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.997;0.973;0.991;0.984	D;D;P;D;D	0.80764	0.994;0.994;0.904;0.946;0.959	D	0.98858	1.0761	10	0.87932	D	0	.	13.0968	0.59197	1.0:0.0:0.0:0.0	.	35;157;870;937;900	Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	S	900;390;937;870;35	ENSP00000204005:N900S;ENSP00000441054:N390S;ENSP00000311905:N937S;ENSP00000380031:N870S;ENSP00000243562:N35S	ENSP00000204005:N900S	N	+	2	0	LTBP4	45811713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.248000	0.89832	1.940000	0.56252	0.379000	0.24179	AAC		0.697	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		8	53	0	0	0	1	0	8	53				
NMUR2	56923	broad.mit.edu	37	5	151784435	151784435	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:151784435G>A	ENST00000255262.3	-	1	405	c.240C>T	c.(238-240)acC>acT	p.T80T	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	80					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGTAGTAGTTGGTGGGCGTCT	0.552																																						ENST00000255262.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44						c.(238-240)acC>acT		neuromedin U receptor 2							104.0	103.0	103.0					5																	151784435		2203	4300	6503	SO:0001819	synonymous_variant	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151784435G>A	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.240C>T	5.37:g.151784435G>A						NMUR2_ENST00000518933.1_Intron	p.T80T	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		1	405	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	80					Q7LC54|Q96AM5|Q9NRA6	Silent	SNP	ENST00000255262.3	37	c.240C>T	CCDS4321.1																																																																																				0.552	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		44	117	0	0	0	1	0	44	117				
ABCA9	10350	broad.mit.edu	37	17	67029943	67029943	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:67029943T>C	ENST00000340001.4	-	9	1411	c.1200A>G	c.(1198-1200)atA>atG	p.I400M	ABCA9_ENST00000453985.2_Missense_Mutation_p.I400M|ABCA9_ENST00000370732.2_Missense_Mutation_p.I400M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	400					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAAGAGTAGCTATTATGAGGT	0.323																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(1198-1200)atA>atG		ATP-binding cassette, sub-family A (ABC1), member 9							111.0	123.0	119.0					17																	67029943		2203	4297	6500	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67029943T>C	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1200A>G	17.37:g.67029943T>C	ENSP00000342216:p.Ile400Met					ABCA9_ENST00000453985.2_Missense_Mutation_p.I400M|ABCA9_ENST00000370732.2_Missense_Mutation_p.I400M	p.I400M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			9	1411	-	Breast(10;1.47e-12)		400					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.1200A>G	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.306946	0.23821	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.87729	-2.29;-2.29	4.53	-1.86	0.07760	.	1.034950	0.07675	N	0.936082	T	0.78729	0.4329	L	0.45228	1.405	0.09310	N	1	P;B	0.36378	0.55;0.161	B;B	0.37387	0.248;0.213	T	0.66956	-0.5792	10	0.51188	T	0.08	.	0.4164	0.00449	0.2554:0.2418:0.1311:0.3717	.	400;400	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	M	400;383;400;395	ENSP00000342216:I400M;ENSP00000359767:I400M	ENSP00000342216:I400M	I	-	3	3	ABCA9	64541538	0.000000	0.05858	0.008000	0.14137	0.028000	0.11728	-0.090000	0.11163	-0.342000	0.08363	0.491000	0.48974	ATA		0.323	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		7	99	0	0	0	1	0	7	99				
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:164038C>G	ENST00000356521.4	-	5	519		c.e5-1		CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000377447.3_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding (GO:0005524)	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284																																						ENST00000377447.3																			2	Unknown(2)	p.?(2)	lung(2)	kidney(1)|lung(2)|ovary(1)|skin(1)	5						c.e5-1		COBW domain containing 1							44.0	70.0	61.0					9																	164038		1423	2635	4058	SO:0001630	splice_region_variant	55871						ATP binding|protein binding	g.chr9:164038C>G	AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.431-1G>C	9.37:g.164038C>G						CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000356521.4_Splice_Site				Q9BRT8	CBWD1_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	5	486	-	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)						A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Splice_Site	SNP	ENST00000356521.4	37		CCDS6438.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304448	0.60305	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367;ENST00000377447;ENST00000431099;ENST00000377347	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6706	0.77270	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CBWD1	154038	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.833000	0.75334	2.049000	0.60858	0.549000	0.68633	.		0.284	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051463.1	NM_018491	Intron	5	202	0	0	0	1	0	5	202				
FANCD2	2177	broad.mit.edu	37	3	10081025	10081025	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:10081025G>C	ENST00000419585.1	+	8	715	c.554G>C	c.(553-555)aGa>aCa	p.R185T	RNU6-670P_ENST00000364312.1_RNA|FANCD2_ENST00000431693.1_Missense_Mutation_p.R185T|FANCD2_ENST00000383807.1_Missense_Mutation_p.R185T|FANCD2_ENST00000383806.1_Missense_Mutation_p.R185T|FANCD2_ENST00000287647.3_Missense_Mutation_p.R185T|FANCD2_ENST00000438741.1_3'UTR			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	185	Interaction with FANCE.				DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGGCTTGACAGAGTTGTGGAT	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(553-555)aGa>aCa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							77.0	72.0	74.0					3																	10081025		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10081025G>C	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.554G>C	3.37:g.10081025G>C	ENSP00000398754:p.Arg185Thr					FANCD2_ENST00000383807.1_Missense_Mutation_p.R185T|FANCD2_ENST00000383806.1_Missense_Mutation_p.R185T|FANCD2_ENST00000438741.1_3'UTR|FANCD2_ENST00000431693.1_Missense_Mutation_p.R185T|FANCD2_ENST00000419585.1_Missense_Mutation_p.R185T	p.R185T	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	8	647	+			185			Interaction with FANCE.		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.554G>C	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165930	0.38217	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585;ENST00000431693	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.38	0.262	0.15597	.	0.220091	0.47455	D	0.000226	T	0.58061	0.2096	M	0.63843	1.955	0.30416	N	0.778624	D;D;D	0.65815	0.992;0.992;0.995	P;P;P	0.56700	0.736;0.804;0.724	T	0.59931	-0.7361	10	0.51188	T	0.08	.	9.1845	0.37163	0.4047:0.0:0.5953:0.0	.	185;185;185	Q9BXW9-2;Q9BXW9;Q9BXW9-4	.;FACD2_HUMAN;.	T	185	ENSP00000287647:R185T;ENSP00000373318:R185T;ENSP00000373317:R185T;ENSP00000398754:R185T;ENSP00000399354:R185T	ENSP00000287647:R185T	R	+	2	0	FANCD2	10056025	0.977000	0.34250	0.066000	0.19879	0.291000	0.27294	2.043000	0.41231	-0.165000	0.10908	-0.233000	0.12211	AGA		0.358	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			6	24	0	0	0	1	0	6	24				
TPR	7175	broad.mit.edu	37	1	186303547	186303547	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:186303547G>A	ENST00000367478.4	-	36	5388	c.5092C>T	c.(5092-5094)Cgc>Tgc	p.R1698C		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1698					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.R1699C(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACCATTGGGCGGATACTAGCC	0.468			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		1	Substitution - Missense(1)	p.R1699C(1)	large_intestine(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(5092-5094)Cgc>Tgc		translocated promoter region, nuclear basket protein							178.0	176.0	177.0					1																	186303547		1951	4139	6090	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186303547G>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5092C>T	1.37:g.186303547G>A	ENSP00000356448:p.Arg1698Cys						p.R1698C	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	36	5388	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1698					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.5092C>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446221	0.84101	.	.	ENSG00000047410	ENST00000367478	T	0.28895	1.59	5.41	5.41	0.78517	.	0.047890	0.85682	D	0.000000	T	0.59445	0.2194	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.62950	-0.6745	10	0.87932	D	0	.	19.5721	0.95425	0.0:0.0:1.0:0.0	.	1698	P12270	TPR_HUMAN	C	1698	ENSP00000356448:R1698C	ENSP00000356448:R1698C	R	-	1	0	TPR	184570170	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.758000	0.68776	2.689000	0.91719	0.563000	0.77884	CGC		0.468	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		29	67	0	0	0	1	0	29	67				
PPP1R2	5504	broad.mit.edu	37	3	195269829	195269829	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:195269829G>A	ENST00000328432.3	-	1	380	c.20C>T	c.(19-21)tCg>tTg	p.S7L	AC091633.3_ENST00000426109.1_RNA	NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	7					generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		GGGCCGGTGCGAGGCCGTCGA	0.662																																						ENST00000328432.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6						c.(19-21)tCg>tTg		protein phosphatase 1, regulatory (inhibitor) subunit 2							13.0	14.0	14.0					3																	195269829		2193	4291	6484	SO:0001583	missense	5504				glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity	g.chr3:195269829G>A	U68111	CCDS3309.1	3q29	2012-04-17			ENSG00000184203	ENSG00000184203	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9288	protein-coding gene	gene with protein product		601792				9126490, 8119416	Standard	XM_006713682		Approved	IPP2	uc003fup.3	P41236	OTTHUMG00000155887	ENST00000328432.3:c.20C>T	3.37:g.195269829G>A	ENSP00000328178:p.Ser7Leu						p.S7L	NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)	1	380	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		7						Missense_Mutation	SNP	ENST00000328432.3	37	c.20C>T	CCDS3309.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167818	0.57476	.	.	ENSG00000184203	ENST00000328432;ENST00000438848	.	.	.	4.26	3.38	0.38709	.	0.570785	0.16743	N	0.201372	T	0.51092	0.1654	L	0.61387	1.9	0.34917	D	0.748074	B;B	0.25809	0.004;0.135	B;B	0.17722	0.001;0.019	T	0.61417	-0.7067	9	0.72032	D	0.01	.	8.14	0.31078	0.1114:0.0:0.8886:0.0	.	7;7	E7EMN6;P41236	.;IPP2_HUMAN	L	7	.	ENSP00000328178:S7L	S	-	2	0	PPP1R2	196751118	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.912000	0.56386	1.156000	0.42514	0.555000	0.69702	TCG		0.662	PPP1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342133.1	NM_006241		4	11	0	0	0	1	0	4	11				
LONRF1	91694	broad.mit.edu	37	8	12595579	12595579	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:12595579A>G	ENST00000398246.3	-	4	1107	c.1038T>C	c.(1036-1038)tgT>tgC	p.C346C	LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	346							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TGTTTTTAGTACATGGTAATG	0.358																																						ENST00000398246.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1036-1038)tgT>tgC		LON peptidase N-terminal domain and ring finger 1							97.0	89.0	91.0					8																	12595579		1839	4089	5928	SO:0001819	synonymous_variant	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12595579A>G	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1038T>C	8.37:g.12595579A>G						LONRF1_ENST00000530693.1_5'UTR|LONRF1_ENST00000533751.1_5'UTR	p.C346C	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	4	1107	-			346					B4DM29|B4DU84|Q8TEA0|Q9BSV1	Silent	SNP	ENST00000398246.3	37	c.1038T>C	CCDS5987.2																																																																																				0.358	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		18	78	0	0	0	1	0	18	78				
ASB8	140461	broad.mit.edu	37	12	48543375	48543375	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:48543375G>T	ENST00000317697.3	-	4	810	c.641C>A	c.(640-642)gCt>gAt	p.A214D	ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.A214D	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	214					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GTGTCCAACAGCTCTGTGGAG	0.527																																						ENST00000317697.3																			0				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						c.(640-642)gCt>gAt		ankyrin repeat and SOCS box containing 8							74.0	76.0	75.0					12																	48543375		2203	4300	6503	SO:0001583	missense	140461				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48543375G>T	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.641C>A	12.37:g.48543375G>T	ENSP00000320893:p.Ala214Asp					ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.A214D	p.A214D	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN			4	810	-			214					A8K1P2|Q547Q2	Missense_Mutation	SNP	ENST00000317697.3	37	c.641C>A	CCDS8761.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904331	0.92035	.	.	ENSG00000177981	ENST00000317697;ENST00000536549;ENST00000446549	T;T	0.47177	0.85;0.85	5.19	5.19	0.71726	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58466	0.2124	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.63047	-0.6724	10	0.87932	D	0	-8.444	18.6942	0.91594	0.0:0.0:1.0:0.0	.	214	Q9H765	ASB8_HUMAN	D	214;214;181	ENSP00000320893:A214D;ENSP00000445622:A214D	ENSP00000320893:A214D	A	-	2	0	ASB8	46829642	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.140000	0.94607	2.600000	0.87896	0.655000	0.94253	GCT		0.527	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			31	118	1	0	1.39806e-14	1	1.46325e-14	31	118				
PXMP2	5827	broad.mit.edu	37	12	133277861	133277861	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:133277861C>T	ENST00000317479.3	+	4	490	c.425C>T	c.(424-426)gCc>gTc	p.A142V	PXMP2_ENST00000545677.1_Silent_p.R13R|PXMP2_ENST00000539093.1_Silent_p.R13R|PXMP2_ENST00000543589.1_Intron|RP13-672B3.2_ENST00000537262.1_Silent_p.R13R|PXMP2_ENST00000428960.2_Missense_Mutation_p.A49V	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	142						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GCCTTCGCCGCCAAGATGAGG	0.597																																						ENST00000317479.3																			0				large_intestine(1)|liver(2)|lung(1)	4						c.(424-426)gCc>gTc		peroxisomal membrane protein 2, 22kDa							73.0	82.0	79.0					12																	133277861		2203	4300	6503	SO:0001583	missense	5827					integral to membrane|peroxisomal membrane	protein binding	g.chr12:133277861C>T		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.425C>T	12.37:g.133277861C>T	ENSP00000321271:p.Ala142Val					PXMP2_ENST00000543589.1_Intron|RP13-672B3.2_ENST00000537262.1_Silent_p.R13R|PXMP2_ENST00000428960.2_Missense_Mutation_p.A49V|PXMP2_ENST00000545677.1_Silent_p.R13R|PXMP2_ENST00000539093.1_Silent_p.R13R	p.A142V	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)	4	490	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		142						Missense_Mutation	SNP	ENST00000317479.3	37	c.425C>T	CCDS9279.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526989	0.27299	.	.	ENSG00000176894	ENST00000317479;ENST00000428960	D;D	0.86230	-2.09;-2.09	5.31	2.19	0.27852	.	1.163950	0.06069	N	0.659714	T	0.80319	0.4601	L	0.39467	1.215	0.09310	N	1	B	0.17667	0.023	B	0.15052	0.012	T	0.62973	-0.6740	10	0.30078	T	0.28	.	3.8939	0.09131	0.2871:0.5169:0.0:0.196	.	142	Q9NR77	PXMP2_HUMAN	V	142;49	ENSP00000321271:A142V;ENSP00000398708:A49V	ENSP00000321271:A142V	A	+	2	0	PXMP2	131787934	0.008000	0.16893	0.000000	0.03702	0.003000	0.03518	1.770000	0.38532	0.684000	0.31448	0.514000	0.50259	GCC		0.597	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663		7	249	0	0	0	1	0	7	249				
ZBTB49	166793	broad.mit.edu	37	4	4304616	4304616	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:4304616A>G	ENST00000337872.4	+	3	1174	c.1053A>G	c.(1051-1053)caA>caG	p.Q351Q	ZBTB49_ENST00000355834.3_Silent_p.Q351Q|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	351					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(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CTAGCAGCCAAAGTGCTGAAG	0.443																																						ENST00000337872.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(1051-1053)caA>caG		zinc finger and BTB domain containing 49							48.0	49.0	49.0					4																	4304616		2203	4300	6503	SO:0001819	synonymous_variant	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4304616A>G	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1053A>G	4.37:g.4304616A>G						ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Silent_p.Q351Q	p.Q351Q	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN			3	1174	+			351					Q59FJ4|Q5EBN0|Q8TB80	Silent	SNP	ENST00000337872.4	37	c.1053A>G	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	A	4.887	0.164762	0.09287	.	.	ENSG00000168826	ENST00000504302	.	.	.	5.57	-11.1	0.00147	.	.	.	.	.	T	0.15696	0.0378	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.09079	-1.0691	4	.	.	.	.	4.3395	0.11103	0.2232:0.3851:0.3026:0.0892	.	.	.	.	R	88	.	.	K	+	2	0	ZBTB49	4355517	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.899000	0.01600	-2.150000	0.00796	-0.353000	0.07706	AAA		0.443	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		22	60	0	0	0	1	0	22	60				
KMT2C	58508	broad.mit.edu	37	7	151880197	151880197	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:151880197T>C	ENST00000262189.6	-	35	5345	c.5127A>G	c.(5125-5127)gtA>gtG	p.V1709V	KMT2C_ENST00000355193.2_Silent_p.V1709V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1709					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTGACATCTGTACTTTATTAA	0.343																																						ENST00000355193.2																			0											c.(5125-5127)gtA>gtG		lysine (K)-specific methyltransferase 2C							295.0	304.0	301.0					7																	151880197		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151880197T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5127A>G	7.37:g.151880197T>C						KMT2C_ENST00000262189.6_Silent_p.V1709V	p.V1709V							35	5345	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.5127A>G	CCDS5931.1																																																																																				0.343	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			34	378	0	0	0	1	0	34	378				
KIF21B	23046	broad.mit.edu	37	1	200944736	200944736	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:200944736G>A	ENST00000422435.2	-	33	4821	c.4505C>T	c.(4504-4506)cCg>cTg	p.P1502L	KIF21B_ENST00000332129.2_Missense_Mutation_p.P1489L|KIF21B_ENST00000360529.5_Missense_Mutation_p.P1489L|KIF21B_ENST00000461742.2_Missense_Mutation_p.P1502L	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1502					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P1489L(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ATCGTAGTGCGGGGGCTCGAA	0.612																																						ENST00000332129.2																			1	Substitution - Missense(1)	p.P1489L(1)	breast(1)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(4465-4467)cCg>cTg		kinesin family member 21B							83.0	67.0	73.0					1																	200944736		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200944736G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4505C>T	1.37:g.200944736G>A	ENSP00000411831:p.Pro1502Leu					KIF21B_ENST00000461742.2_Missense_Mutation_p.P1502L|KIF21B_ENST00000360529.5_Missense_Mutation_p.P1489L|KIF21B_ENST00000422435.2_Missense_Mutation_p.P1502L	p.P1489L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			32	4782	-			1502					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.4466C>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717527	0.89205	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.72505	-0.32;-0.63;-0.66;-0.35	5.0	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74627	0.3741	M	0.88979	2.995	0.80722	D	1	P;P;P;P	0.45240	0.774;0.774;0.774;0.854	B;B;B;B	0.35899	0.137;0.207;0.137;0.213	T	0.82948	-0.0204	10	0.87932	D	0	.	17.9092	0.88929	0.0:0.0:1.0:0.0	.	1489;1502;1502;1489	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	L	1489;1489;1502;1502;1502	ENSP00000328494:P1489L;ENSP00000353724:P1489L;ENSP00000433808:P1502L;ENSP00000411831:P1502L	ENSP00000328494:P1489L	P	-	2	0	KIF21B	199211359	1.000000	0.71417	0.998000	0.56505	0.739000	0.42172	7.796000	0.85898	2.302000	0.77476	0.561000	0.74099	CCG		0.612	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		13	49	0	0	0	1	0	13	49				
MGAT5B	146664	broad.mit.edu	37	17	74878310	74878310	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:74878310G>A	ENST00000569840.2	+	3	833	c.259G>A	c.(259-261)Gca>Aca	p.A87T	MGAT5B_ENST00000428789.2_Missense_Mutation_p.A98T|MGAT5B_ENST00000301618.4_Missense_Mutation_p.A87T|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000565675.1_Missense_Mutation_p.A87T	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	87					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGCATGGACGCACTGGCCAG	0.677																																						ENST00000569840.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(259-261)Gca>Aca		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B							30.0	27.0	28.0					17																	74878310		2203	4298	6501	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74878310G>A	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.259G>A	17.37:g.74878310G>A	ENSP00000456037:p.Ala87Thr					MGAT5B_ENST00000565675.1_Missense_Mutation_p.A87T|MGAT5B_ENST00000301618.4_Missense_Mutation_p.A87T|MGAT5B_ENST00000428789.2_Missense_Mutation_p.A98T|MGAT5B_ENST00000374998.3_3'UTR	p.A87T	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN			3	833	+			87					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.259G>A	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	3.781	-0.045652	0.07452	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.44083	0.94;0.93	5.23	-4.19	0.03835	.	0.843282	0.10642	N	0.650904	T	0.26919	0.0659	N	0.24115	0.695	0.21355	N	0.999719	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.14392	-1.0474	10	0.31617	T	0.26	-1.5004	14.1099	0.65115	0.2919:0.0:0.7081:0.0	.	98;87	Q3V5L5-2;Q3V5L5-5	.;.	T	87;87;98	ENSP00000301618:A87T;ENSP00000391227:A98T	ENSP00000301618:A87T	A	+	1	0	MGAT5B	72389905	0.000000	0.05858	0.229000	0.23960	0.809000	0.45718	-1.103000	0.03329	-0.961000	0.03609	-0.367000	0.07326	GCA		0.677	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		21	41	0	0	0	1	0	21	41				
PHYKPL	85007	broad.mit.edu	37	5	177658445	177658445	+	Missense_Mutation	SNP	C	C	A	rs149132993		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:177658445C>A	ENST00000308158.5	-	2	373	c.139G>T	c.(139-141)Ggg>Tgg	p.G47W	PHYKPL_ENST00000476170.2_Missense_Mutation_p.G47W|PHYKPL_ENST00000481811.1_5'Flank	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	47						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	TATTCTGCCCCCTGTTCATCG	0.557																																						ENST00000308158.5																			0											c.(139-141)Ggg>Tgg		5-phosphohydroxy-L-lysine phospho-lyase							263.0	207.0	226.0					5																	177658445		2203	4300	6503	SO:0001583	missense	85007							g.chr5:177658445C>A	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.139G>T	5.37:g.177658445C>A	ENSP00000310978:p.Gly47Trp					PHYKPL_ENST00000476170.2_Missense_Mutation_p.G47W	p.G47W	NM_153373.2	NP_699204.1					2	373	-								A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	c.139G>T	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968428	0.74131	.	.	ENSG00000175309	ENST00000308158;ENST00000476170	T;T	0.57752	0.38;0.38	4.62	4.62	0.57501	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.83852	0.5344	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90797	0.4691	10	0.87932	D	0	-15.9636	15.3244	0.74147	0.0:1.0:0.0:0.0	.	47	Q8IUZ5	AT2L2_HUMAN	W	47	ENSP00000310978:G47W;ENSP00000421810:G47W	ENSP00000310978:G47W	G	-	1	0	AGXT2L2	177591051	1.000000	0.71417	0.649000	0.29536	0.337000	0.28794	7.701000	0.84566	2.277000	0.76020	0.655000	0.94253	GGG		0.557	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		34	154	1	0	1.90571e-15	1	1.99736e-15	34	154				
NOMO1	23420	broad.mit.edu	37	16	14989418	14989418	+	Silent	SNP	C	C	T	rs142020293		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:14989418C>T	ENST00000287667.7	+	31	3756	c.3585C>T	c.(3583-3585)cgC>cgT	p.R1195R		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1195			R -> G. {ECO:0000269|PubMed:11139250}.			integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						AGGGAGTCCGCGCGCTCGGCC	0.547																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3583-3585)cgC>cgT		NODAL modulator 1		C		0,4386		0,0,2193	298.0	364.0	342.0		3585	-6.0	0.4	16	dbSNP_134	342	1,8595		0,1,4297	no	coding-synonymous	NOMO1	NM_014287.3		0,1,6490	TT,TC,CC		0.0116,0.0,0.0077		1195/1223	14989418	1,12981	2193	4298	6491	SO:0001819	synonymous_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14989418C>T	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3585C>T	16.37:g.14989418C>T							p.R1195R	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			31	3756	+			1195		R -> G.			P78421|Q8IW21|Q96DG0	Silent	SNP	ENST00000287667.7	37	c.3585C>T	CCDS10556.1																																																																																				0.547	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			117	737	0	0	0	1	0	117	737				
PCNX	22990	broad.mit.edu	37	14	71492878	71492878	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:71492878C>T	ENST00000304743.2	+	14	3674	c.3228C>T	c.(3226-3228)tgC>tgT	p.C1076C	PCNX_ENST00000439984.3_Silent_p.C965C|PCNX_ENST00000238570.5_Silent_p.C1076C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1076						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTTATTTCTGCATATGTTGCG	0.348																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(3226-3228)tgC>tgT		pecanex homolog (Drosophila)							160.0	146.0	151.0					14																	71492878		2203	4300	6503	SO:0001819	synonymous_variant	22990					integral to membrane		g.chr14:71492878C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3228C>T	14.37:g.71492878C>T						PCNX_ENST00000238570.5_Silent_p.C1076C|PCNX_ENST00000439984.3_Silent_p.C965C	p.C1076C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	14	3674	+			1076					B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	c.3228C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	8.957	0.969722	0.18659	.	.	ENSG00000100731	ENST00000554691	.	.	.	5.64	1.91	0.25777	.	.	.	.	.	T	0.57666	0.2069	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48927	-0.8991	4	.	.	.	.	9.1116	0.36732	0.0:0.2954:0.0:0.7046	.	.	.	.	V	135	.	.	A	+	2	0	PCNX	70562631	1.000000	0.71417	0.981000	0.43875	0.956000	0.61745	1.241000	0.32743	0.078000	0.16900	-0.768000	0.03414	GCA		0.348	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		5	105	0	0	0	1	0	5	105				
SUSD2	56241	broad.mit.edu	37	22	24580231	24580231	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:24580231G>A	ENST00000358321.3	+	4	828	c.567G>A	c.(565-567)acG>acA	p.T189T		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	189					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CGCTGCCCACGCAGACCATCA	0.612																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(565-567)acG>acA		sushi domain containing 2							107.0	78.0	88.0					22																	24580231		2203	4300	6503	SO:0001819	synonymous_variant	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24580231G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.567G>A	22.37:g.24580231G>A							p.T189T	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			4	828	+			189					Q9H5Y6	Silent	SNP	ENST00000358321.3	37	c.567G>A	CCDS13824.1																																																																																				0.612	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		26	70	0	0	0	1	0	26	70				
SSTR3	6753	broad.mit.edu	37	22	37603244	37603244	+	Missense_Mutation	SNP	G	G	A	rs367840725		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:37603244G>A	ENST00000328544.3	-	2	1132	c.599C>T	c.(598-600)gCg>gTg	p.A200V	SSTR3_ENST00000402501.1_Missense_Mutation_p.A200V	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	200					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	TCGCCAGGCCGCCGCCGGCTC	0.682																																						ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(598-600)gCg>gTg		somatostatin receptor 3		G	VAL/ALA	0,4170		0,0,2085	9.0	12.0	11.0		599	4.6	0.2	22		11	2,8210		0,2,4104	no	missense	SSTR3	NM_001051.2	64	0,2,6189	AA,AG,GG		0.0244,0.0,0.0162	benign	200/419	37603244	2,12380	2085	4106	6191	SO:0001583	missense	6753				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603244G>A		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.599C>T	22.37:g.37603244G>A	ENSP00000330138:p.Ala200Val					SSTR3_ENST00000402501.1_Missense_Mutation_p.A200V	p.A200V	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	1132	-			200					A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.599C>T	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859447	0.32884	0.0	2.44E-4	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.36520	1.25;1.25	5.66	4.61	0.57282	GPCR, rhodopsin-like superfamily (1);	0.609803	0.17568	N	0.169565	T	0.31231	0.0790	L	0.28014	0.82	0.09310	N	1	P	0.43857	0.819	P	0.44921	0.464	T	0.08432	-1.0722	10	0.31617	T	0.26	.	13.4468	0.61146	0.0:0.0:0.7149:0.2851	.	200	P32745	SSR3_HUMAN	V	200	ENSP00000330138:A200V;ENSP00000384904:A200V	ENSP00000330138:A200V	A	-	2	0	SSTR3	35933190	0.602000	0.26916	0.179000	0.23059	0.251000	0.25915	3.930000	0.56522	1.336000	0.45506	0.551000	0.68910	GCG		0.682	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			12	37	0	0	0	1	0	12	37				
PRKAA2	5563	broad.mit.edu	37	1	57161834	57161834	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:57161834T>C	ENST00000371244.4	+	6	854		c.e6+2			NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit						autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	AGACATAAGGTGATTTTTCTT	0.383																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.e6+2		protein kinase, AMP-activated, alpha 2 catalytic subunit							102.0	103.0	103.0					1																	57161834		2203	4300	6503	SO:0001630	splice_region_variant	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57161834T>C	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.788+2T>C	1.37:g.57161834T>C								NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			6	854	+								Q9H1E8|Q9UD43	Splice_Site	SNP	ENST00000371244.4	37		CCDS605.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.542673	0.85917	.	.	ENSG00000162409	ENST00000371244	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0637	0.80856	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRKAA2	56934422	1.000000	0.71417	0.989000	0.46669	0.859000	0.49053	7.698000	0.84413	2.197000	0.70478	0.533000	0.62120	.		0.383	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252	Intron	5	150	0	0	0	1	0	5	150				
GALNT10	55568	broad.mit.edu	37	5	153795360	153795360	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:153795360G>C	ENST00000297107.6	+	11	1658	c.1521G>C	c.(1519-1521)tgG>tgC	p.W507C	GALNT10_ENST00000377661.2_Missense_Mutation_p.W445C|GALNT10_ENST00000377657.3_Missense_Mutation_p.W180C|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	507	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCTTCACCTGGAGAGAGGACA	0.473																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1519-1521)tgG>tgC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							114.0	116.0	115.0					5																	153795360		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153795360G>C	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1521G>C	5.37:g.153795360G>C	ENSP00000297107:p.Trp507Cys					SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.W180C|GALNT10_ENST00000377661.2_Missense_Mutation_p.W445C|SAP30L-AS1_ENST00000524264.1_RNA	p.W507C	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		11	1658	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	507			Ricin B-type lectin.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.1521G>C	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359761	0.82353	.	.	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.26810	1.71;1.71;1.71	5.6	5.6	0.85130	Ricin B-related lectin (1);Ricin B lectin (3);	0.207554	0.56097	D	0.000040	T	0.57636	0.2067	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.57388	-0.7820	10	0.37606	T	0.19	.	19.621	0.95656	0.0:0.0:1.0:0.0	.	445;178;507	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	C	507;445;180	ENSP00000297107:W507C;ENSP00000366889:W445C;ENSP00000366885:W180C	ENSP00000297107:W507C	W	+	3	0	GALNT10	153775553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.213000	0.95133	2.627000	0.88993	0.655000	0.94253	TGG		0.473	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		49	158	0	0	0	1	0	49	158				
EVPL	2125	broad.mit.edu	37	17	74005594	74005594	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:74005594A>G	ENST00000301607.3	-	22	3945	c.3692T>C	c.(3691-3693)gTg>gCg	p.V1231A	EVPL_ENST00000586740.1_Missense_Mutation_p.V1253A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1231	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CAGCTTCTCCACCTCCTTCTC	0.637																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(3691-3693)gTg>gCg		envoplakin							115.0	90.0	98.0					17																	74005594		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005594A>G	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3692T>C	17.37:g.74005594A>G	ENSP00000301607:p.Val1231Ala					EVPL_ENST00000586740.1_Missense_Mutation_p.V1253A	p.V1231A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	3945	-			1231			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.3692T>C	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.789049	0.49997	.	.	ENSG00000167880	ENST00000301607	T	0.58652	0.32	5.44	4.34	0.51931	.	0.191526	0.47852	D	0.000217	T	0.55689	0.1936	M	0.67953	2.075	0.33603	D	0.602527	B;B	0.33000	0.393;0.004	B;B	0.33196	0.159;0.006	T	0.67810	-0.5574	10	0.72032	D	0.01	-30.058	11.5429	0.50677	0.9291:0.0:0.0709:0.0	.	1253;1231	B7ZLH8;Q92817	.;EVPL_HUMAN	A	1231	ENSP00000301607:V1231A	ENSP00000301607:V1231A	V	-	2	0	EVPL	71517189	1.000000	0.71417	0.992000	0.48379	0.692000	0.40212	6.314000	0.72848	0.893000	0.36288	0.449000	0.29647	GTG		0.637	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		41	110	0	0	0	1	0	41	110				
ABCA1	19	broad.mit.edu	37	9	107583768	107583768	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:107583768A>G	ENST00000374736.3	-	20	3242	c.2848T>C	c.(2848-2850)Ttc>Ctc	p.F950L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	950	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GTCGGGGGGAACAACCCGGTC	0.532																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(2848-2850)Ttc>Ctc		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						52.0	49.0	50.0					9																	107583768		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107583768A>G	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2848T>C	9.37:g.107583768A>G	ENSP00000363868:p.Phe950Leu						p.F950L	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	20	3242	-			950			ABC transporter 1.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.2848T>C	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	A	19.39	3.819066	0.71028	.	.	ENSG00000165029	ENST00000374736	T	0.75260	-0.92	5.7	5.7	0.88788	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	N	0.00569	-1.365	0.80722	D	1	P	0.45212	0.853	P	0.50754	0.649	T	0.71500	-0.4574	10	0.37606	T	0.19	.	15.96	0.79923	1.0:0.0:0.0:0.0	.	950	O95477	ABCA1_HUMAN	L	950	ENSP00000363868:F950L	ENSP00000363868:F950L	F	-	1	0	ABCA1	106623589	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	9.339000	0.96797	2.165000	0.68154	0.460000	0.39030	TTC		0.532	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		6	53	0	0	0	1	0	6	53				
GPR137B	7107	broad.mit.edu	37	1	236306300	236306300	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:236306300T>C	ENST00000366592.3	+	1	469	c.378T>C	c.(376-378)ttT>ttC	p.F126F	GPR137B_ENST00000366591.4_Silent_p.F126F	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	126						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GCCTGCAGTTTTTCACCCTCA	0.602																																						ENST00000366592.3																			0				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(376-378)ttT>ttC		G protein-coupled receptor 137B							117.0	111.0	113.0					1																	236306300		2203	4300	6503	SO:0001819	synonymous_variant	7107					integral to plasma membrane|membrane fraction		g.chr1:236306300T>C	AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.378T>C	1.37:g.236306300T>C						GPR137B_ENST00000366591.4_Silent_p.F126F	p.F126F	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		1	469	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	126					Q53EK7|Q5TAE6|Q6FHI3	Silent	SNP	ENST00000366592.3	37	c.378T>C	CCDS1609.1																																																																																				0.602	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272		7	177	0	0	0	1	0	7	177				
NOL11	25926	broad.mit.edu	37	17	65714141	65714141	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:65714141G>A	ENST00000253247.4	+	1	193	c.78G>A	c.(76-78)gaG>gaA	p.E26E	NOL11_ENST00000581966.1_3'UTR|NOL11_ENST00000535137.1_5'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	26					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAGGCGTGGAGCAGAGCGACA	0.552											OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253247.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11						c.(76-78)gaG>gaA		nucleolar protein 11							94.0	84.0	88.0					17																	65714141		2203	4300	6503	SO:0001819	synonymous_variant	25926					nucleolus		g.chr17:65714141G>A	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.78G>A	17.37:g.65714141G>A			OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086	NOL11_ENST00000535137.1_5'UTR|NOL11_ENST00000581966.1_3'UTR	p.E26E	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		1	193	+	all_cancers(12;1.54e-10)		26					B7Z5V9|Q7L5S1|Q9UG18	Silent	SNP	ENST00000253247.4	37	c.78G>A	CCDS11671.1																																																																																				0.552	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		25	87	0	0	0	1	0	25	87				
RP1	6101	broad.mit.edu	37	8	55542033	55542033	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:55542033G>A	ENST00000220676.1	+	4	5739	c.5591G>A	c.(5590-5592)tGc>tAc	p.C1864Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1864					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)			GAAAGAGTATGCACATCTGTC	0.413																																					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.(5590-5592)tGc>tAc		retinitis pigmentosa 1 (autosomal dominant)							139.0	131.0	134.0					8																	55542033		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.chr8:55542033G>A	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.5591G>A	8.37:g.55542033G>A	ENSP00000220676:p.Cys1864Tyr						p.C1864Y	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	5739	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1864						Missense_Mutation	SNP	ENST00000220676.1	37	c.5591G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654687	0.47467	.	.	ENSG00000104237	ENST00000220676	T	0.45668	0.89	5.79	4.91	0.64330	.	0.000000	0.53938	D	0.000049	T	0.59142	0.2172	M	0.71581	2.175	0.24774	N	0.992851	D	0.57899	0.981	P	0.57371	0.819	T	0.58267	-0.7666	10	0.87932	D	0	.	15.3603	0.74469	0.0:0.0:0.8595:0.1405	.	1864	P56715	RP1_HUMAN	Y	1864	ENSP00000220676:C1864Y	ENSP00000220676:C1864Y	C	+	2	0	RP1	55704586	0.129000	0.22400	0.046000	0.18839	0.866000	0.49608	2.048000	0.41278	1.446000	0.47643	0.655000	0.94253	TGC		0.413	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		9	66	0	0	0	1	0	9	66				
ABHD16B	140701	broad.mit.edu	37	20	62493544	62493544	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:62493544G>A	ENST00000369916.3	+	1	979	c.651G>A	c.(649-651)caG>caA	p.Q217Q	C20ORF135_ENST00000601296.1_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	217							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						CCTTCCCTCAGCACGACGCCA	0.682																																						ENST00000369916.3																			0				endometrium(2)|kidney(1)|lung(3)	6						c.(649-651)caG>caA		abhydrolase domain containing 16B							34.0	31.0	32.0					20																	62493544		2201	4299	6500	SO:0001819	synonymous_variant	140701						hydrolase activity	g.chr20:62493544G>A		CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"""Abhydrolase domain containing"""	16128	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 135"""	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.651G>A	20.37:g.62493544G>A							p.Q217Q	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN			1	979	+			217						Silent	SNP	ENST00000369916.3	37	c.651G>A	CCDS13539.1																																																																																				0.682	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1			6	31	0	0	0	1	0	6	31				
ZNF41	7592	broad.mit.edu	37	X	47308126	47308126	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:47308126A>G	ENST00000377065.4	-	5	1682	c.1043T>C	c.(1042-1044)aTt>aCt	p.I348T	ZNF41_ENST00000313116.7_Missense_Mutation_p.I348T|ZNF41_ENST00000397050.2_Missense_Mutation_p.I358T|ZNF41_ENST00000465311.1_5'Flank	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	390					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CCCGGTATGAATTTTTTGATG	0.383																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(1042-1044)aTt>aCt		zinc finger protein 41							54.0	56.0	55.0					X																	47308126		2202	4292	6494	SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47308126A>G	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1043T>C	X.37:g.47308126A>G	ENSP00000366265:p.Ile348Thr					ZNF41_ENST00000313116.7_Missense_Mutation_p.I348T|ZNF41_ENST00000397050.2_Missense_Mutation_p.I358T	p.I348T	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			5	1682	-		all_lung(315;0.000129)	390					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	c.1043T>C	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	A	0.459	-0.889789	0.02511	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.04015	3.73;3.73;3.73	3.68	2.38	0.29361	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.224343	0.22864	N	0.054718	T	0.02571	0.0078	N	0.10916	0.065	0.22620	N	0.99893	B;B;B;B;B	0.14012	0.007;0.007;0.008;0.007;0.009	B;B;B;B;B	0.15052	0.007;0.007;0.008;0.007;0.012	T	0.43048	-0.9415	10	0.39692	T	0.17	.	5.7916	0.18363	0.8298:0.0:0.1702:0.0	.	348;350;358;382;390	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	T	348;348;358	ENSP00000315173:I348T;ENSP00000366265:I348T;ENSP00000380243:I358T	ENSP00000315173:I348T	I	-	2	0	ZNF41	47193070	0.678000	0.27586	0.897000	0.35233	0.006000	0.05464	1.996000	0.40776	0.529000	0.28599	0.481000	0.45027	ATT		0.383	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		14	34	0	0	0	1	0	14	34				
AVPR1B	553	broad.mit.edu	37	1	206230826	206230826	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:206230826T>C	ENST00000367126.4	+	2	1424	c.959T>C	c.(958-960)tTc>tCc	p.F320S		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	320					activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.F320Y(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	AATGTGGCTTTCACCATCTCT	0.557																																						ENST00000367126.4																			1	Substitution - Missense(1)	p.F320Y(1)	lung(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20						c.(958-960)tTc>tCc		arginine vasopressin receptor 1B	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)						61.0	53.0	56.0					1																	206230826		2203	4300	6503	SO:0001583	missense	553				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr1:206230826T>C	D31833	CCDS73015.1	1q32	2014-05-06			ENSG00000198049	ENSG00000198049		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	896	protein-coding gene	gene with protein product		600264		AVPR3		7929452, 8586456	Standard	NM_000707		Approved		uc001hds.2	P47901	OTTHUMG00000184377	ENST00000367126.4:c.959T>C	1.37:g.206230826T>C	ENSP00000356094:p.Phe320Ser						p.F320S	NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0312)		2	1424	+			320					B0M0J6|Q5TZ00	Missense_Mutation	SNP	ENST00000367126.4	37	c.959T>C	CCDS30994.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.674675	0.47781	.	.	ENSG00000198049	ENST00000367126	T	0.72505	-0.66	5.7	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.366329	0.29266	N	0.012657	T	0.65647	0.2711	L	0.60455	1.87	0.40271	D	0.978283	B	0.06786	0.001	B	0.20577	0.03	T	0.60495	-0.7252	10	0.32370	T	0.25	-28.2753	10.9251	0.47187	0.0:0.075:0.0:0.925	.	320	P47901	V1BR_HUMAN	S	320	ENSP00000356094:F320S	ENSP00000356094:F320S	F	+	2	0	AVPR1B	204397449	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.044000	0.57361	0.985000	0.38656	-0.400000	0.06385	TTC		0.557	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	NM_000707		13	37	0	0	0	1	0	13	37				
KCTD1	284252	broad.mit.edu	37	18	24035851	24035851	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:24035851C>T	ENST00000408011.3	-	5	1189	c.630G>A	c.(628-630)ttG>ttA	p.L210L	KCTD1_ENST00000317932.7_Silent_p.L210L|KCTD1_ENST00000580059.1_Silent_p.L210L|KCTD1_ENST00000417602.1_Silent_p.L818L|KCTD1_ENST00000579973.1_Silent_p.L210L	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	210					negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.L210L(1)|p.L818L(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CTCTTTGCTGCAACCTCTCGA	0.547																																						ENST00000417602.1																			2	Substitution - coding silent(2)	p.L210L(1)|p.L818L(1)	large_intestine(2)	endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12						c.(2452-2454)ttG>ttA		potassium channel tetramerization domain containing 1							59.0	50.0	53.0					18																	24035851		2203	4300	6503	SO:0001819	synonymous_variant	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24035851C>T	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.630G>A	18.37:g.24035851C>T						KCTD1_ENST00000408011.3_Silent_p.L210L|KCTD1_ENST00000579973.1_Silent_p.L210L|KCTD1_ENST00000580059.1_Silent_p.L210L|KCTD1_ENST00000317932.7_Silent_p.L210L	p.L818L	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		5	2453	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		210					A8K1F5	Silent	SNP	ENST00000408011.3	37	c.2454G>A	CCDS11888.1																																																																																				0.547	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		21	47	0	0	0	1	0	21	47				
TBC1D24	57465	broad.mit.edu	37	16	2546979	2546979	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2546979C>T	ENST00000293970.5	+	2	963	c.830C>T	c.(829-831)gCg>gTg	p.A277V	RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.A277V|TBC1D24_ENST00000567020.1_Missense_Mutation_p.A277V|TBC1D24_ENST00000434757.2_Missense_Mutation_p.A277V	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	277					neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						AGAGACATCGCGAAGACGGTG	0.612																																						ENST00000567020.1																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						c.(829-831)gCg>gTg		TBC1 domain family, member 24							61.0	68.0	66.0					16																	2546979		2160	4268	6428	SO:0001583	missense	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2546979C>T	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.830C>T	16.37:g.2546979C>T	ENSP00000293970:p.Ala277Val					TBC1D24_ENST00000434757.2_Missense_Mutation_p.A277V|TBC1D24_ENST00000293970.5_Missense_Mutation_p.A277V|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.A277V	p.A277V	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN			2	970	+			277					A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	ENST00000293970.5	37	c.830C>T	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753504	0.31046	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.21543	2.0;2.0	5.24	1.95	0.26073	Rab-GAP/TBC domain (1);	0.540563	0.20380	N	0.093471	T	0.27169	0.0666	L	0.50333	1.59	0.09310	N	0.999998	D;D;D	0.65815	0.971;0.992;0.995	B;P;P	0.54460	0.347;0.571;0.753	T	0.03933	-1.0991	10	0.38643	T	0.18	-21.8002	8.5486	0.33438	0.2307:0.5309:0.2384:0.0	.	277;277;277	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	V	277	ENSP00000293970:A277V;ENSP00000390106:A277V	ENSP00000293970:A277V	A	+	2	0	TBC1D24	2486980	0.478000	0.25917	0.989000	0.46669	0.055000	0.15305	1.240000	0.32731	1.166000	0.42689	0.655000	0.94253	GCG		0.612	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		36	102	0	0	0	1	0	36	102				
TMPRSS12	283471	broad.mit.edu	37	12	51237699	51237699	+	Missense_Mutation	SNP	G	G	A	rs369846570		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:51237699G>A	ENST00000398458.3	+	2	294	c.262G>A	c.(262-264)Gca>Aca	p.A88T	RN7SL519P_ENST00000497925.2_RNA|TMPRSS12_ENST00000551456.1_Missense_Mutation_p.A88T	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	88	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						ACAAGCTGGCGCATGGCCGTG	0.488																																						ENST00000551456.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						c.(262-264)Gca>Aca		transmembrane (C-terminal) protease, serine 12																																				SO:0001583	missense	283471				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr12:51237699G>A	BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.262G>A	12.37:g.51237699G>A	ENSP00000381476:p.Ala88Thr					TMPRSS12_ENST00000398458.3_Missense_Mutation_p.A88T	p.A88T			Q86WS5	TMPSC_HUMAN			2	307	+			88			Peptidase S1.		B9ZVX2	Missense_Mutation	SNP	ENST00000398458.3	37	c.262G>A	CCDS44881.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015315	0.35511	.	.	ENSG00000186452	ENST00000551456;ENST00000398458	T;T	0.60548	0.18;0.3	5.7	1.43	0.22495	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.498007	0.18240	N	0.147264	T	0.41811	0.1175	L	0.53249	1.67	0.09310	N	1	P;B	0.39424	0.673;0.069	B;B	0.33750	0.169;0.044	T	0.20042	-1.0287	10	0.26408	T	0.33	-5.6235	4.1262	0.10128	0.1844:0.0:0.5022:0.3134	.	88;88	F8WBX2;Q86WS5	.;TMPSC_HUMAN	T	88	ENSP00000447259:A88T;ENSP00000381476:A88T	ENSP00000381476:A88T	A	+	1	0	TMPRSS12	49523966	0.009000	0.17119	0.001000	0.08648	0.020000	0.10135	1.373000	0.34272	0.254000	0.21573	-0.244000	0.11960	GCA		0.488	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559		9	15	0	0	0	1	0	9	15				
PCDHA6	56142	broad.mit.edu	37	5	140208740	140208740	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140208740T>C	ENST00000529310.1	+	1	1178	c.1064T>C	c.(1063-1065)tTa>tCa	p.L355S	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.L355S|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	355	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACTTCCTTATCCTTGCCT	0.502																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1063-1065)tTa>tCa									99.0	98.0	98.0					5																	140208740		2202	4280	6482	SO:0001583	missense	56142							g.chr5:140208740T>C	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1064T>C	5.37:g.140208740T>C	ENSP00000433378:p.Leu355Ser					PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.L355S|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.L355S	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1178	+								O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1064T>C	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.401246	0.25291	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.21361	2.01;2.01	3.7	3.7	0.42460	Cadherin (2);Cadherin-like (1);	0.000000	0.29508	U	0.011947	T	0.49029	0.1533	M	0.87269	2.87	0.09310	N	1	D;D;D	0.69078	0.957;0.997;0.996	P;D;D	0.70227	0.877;0.968;0.963	T	0.45323	-0.9269	10	0.72032	D	0.01	.	12.8112	0.57641	0.0:0.0:0.0:1.0	.	355;355;355	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	S	355	ENSP00000433378:L355S;ENSP00000434113:L355S	ENSP00000434113:L355S	L	+	2	0	PCDHA6	140188924	0.927000	0.31430	0.012000	0.15200	0.136000	0.21042	6.099000	0.71466	1.669000	0.50854	0.260000	0.18958	TTA		0.502	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		47	144	0	0	0	1	0	47	144				
RBM6	10180	broad.mit.edu	37	3	50095330	50095330	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:50095330A>G	ENST00000266022.4	+	9	2122	c.1863A>G	c.(1861-1863)gaA>gaG	p.E621E	RBM6_ENST00000442092.1_Silent_p.E99E|RBM6_ENST00000422955.1_Silent_p.E99E|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000443081.1_Silent_p.E489E|RBM6_ENST00000539992.1_5'UTR	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	621					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AAAAGAGAGAAGCAGAAAGGT	0.527																																						ENST00000443081.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(1465-1467)gaA>gaG		RNA binding motif protein 6							92.0	86.0	88.0					3																	50095330		2203	4300	6503	SO:0001819	synonymous_variant	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50095330A>G	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1863A>G	3.37:g.50095330A>G						RBM6_ENST00000266022.4_Silent_p.E621E|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000442092.1_Silent_p.E99E|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Silent_p.E99E	p.E489E			P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	9	2386	+			621			RRM.		O60549|O75524|Q86SS3	Silent	SNP	ENST00000266022.4	37	c.1467A>G	CCDS2809.1																																																																																				0.527	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		6	67	0	0	0	1	0	6	67				
ELL3	80237	broad.mit.edu	37	15	44067752	44067752	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:44067752T>C	ENST00000319359.3	-	5	1181	c.540A>G	c.(538-540)tcA>tcG	p.S180S	ELL3_ENST00000497465.1_5'Flank|RP11-296A16.1_ENST00000417761.2_3'UTR|SERF2_ENST00000381359.1_5'Flank	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	180					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		TGTGCTCCCTTGAGGATCCTG	0.522											OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000319359.3																			0				cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13						c.(538-540)tcA>tcG		elongation factor RNA polymerase II-like 3							154.0	129.0	138.0					15																	44067752		2198	4298	6496	SO:0001819	synonymous_variant	80237				positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr15:44067752T>C	AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.540A>G	15.37:g.44067752T>C			OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921	RP11-296A16.1_ENST00000417761.2_3'UTR	p.S180S	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	5	1181	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	180					B3KQ66|B3KX08|Q6I9Z7|Q9H634	Silent	SNP	ENST00000319359.3	37	c.540A>G	CCDS10102.1																																																																																				0.522	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133236.2	NM_025165		9	52	0	0	0	1	0	9	52				
ONECUT2	9480	broad.mit.edu	37	18	55103988	55103988	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:55103988A>G	ENST00000491143.2	+	1	1072	c.1040A>G	c.(1039-1041)aAg>aGg	p.K347R	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	347					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	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)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GCGGAGCTGAAGCGCTACAGT	0.622																																						ENST00000491143.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15						c.(1039-1041)aAg>aGg		one cut homeobox 2							31.0	37.0	35.0					18																	55103988		2130	4262	6392	SO:0001583	missense	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55103988A>G	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1040A>G	18.37:g.55103988A>G	ENSP00000419185:p.Lys347Arg						p.K347R	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	1	1072	+		Colorectal(73;0.234)	347						Missense_Mutation	SNP	ENST00000491143.2	37	c.1040A>G	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179785	0.78564	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	4.87	4.87	0.63330	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	M	0.65498	2.005	0.80722	D	1	P	0.52842	0.956	D	0.75484	0.986	T	0.78826	-0.2051	9	0.87932	D	0	-22.0923	12.4278	0.55557	1.0:0.0:0.0:0.0	.	347	O95948	ONEC2_HUMAN	R	328;347	.	ENSP00000262095:K347R	K	+	2	0	ONECUT2	53254986	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.195000	0.94971	1.846000	0.53633	0.374000	0.22700	AAG		0.622	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			11	35	0	0	0	1	0	11	35				
TMEM132D	121256	broad.mit.edu	37	12	129559268	129559268	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:129559268T>C	ENST00000422113.2	-	9	2778	c.2452A>G	c.(2452-2454)Atg>Gtg	p.M818V	TMEM132D_ENST00000389441.4_Missense_Mutation_p.M356V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	818					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTGTTTTCCATGTGAACCCCT	0.488																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(2452-2454)Atg>Gtg		transmembrane protein 132D							164.0	134.0	145.0					12																	129559268		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129559268T>C	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2452A>G	12.37:g.129559268T>C	ENSP00000408581:p.Met818Val					TMEM132D_ENST00000389441.4_Missense_Mutation_p.M356V	p.M818V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2778	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	818					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2452A>G	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.649762	0.00785	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.12984	2.63;2.63	4.05	0.366	0.16136	.	1.591970	0.04487	N	0.378838	T	0.04092	0.0114	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36286	-0.9754	9	.	.	.	-7.1126	2.1019	0.03682	0.2027:0.1602:0.4823:0.1548	.	818;356	Q14C87;Q14C87-2	T132D_HUMAN;.	V	356;818	ENSP00000374092:M356V;ENSP00000408581:M818V	.	M	-	1	0	TMEM132D	128125221	0.006000	0.16342	0.005000	0.12908	0.061000	0.15899	0.198000	0.17217	0.256000	0.21614	-0.408000	0.06270	ATG		0.488	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		20	97	0	0	0	1	0	20	97				
FBXO34	55030	broad.mit.edu	37	14	55818975	55818975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:55818975C>T	ENST00000313833.4	+	2	2112	c.1867C>T	c.(1867-1869)Cga>Tga	p.R623*	FBXO34_ENST00000440021.1_Nonsense_Mutation_p.R623*	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	623	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TCGCTGGGTTCGAGATCCACG	0.473																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(1867-1869)Cga>Tga		F-box protein 34							100.0	90.0	94.0					14																	55818975		2203	4300	6503	SO:0001587	stop_gained	55030							g.chr14:55818975C>T	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1867C>T	14.37:g.55818975C>T	ENSP00000313159:p.Arg623*					FBXO34_ENST00000440021.1_Nonsense_Mutation_p.R623*	p.R623*	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	2112	+			623			F-box.		Q2VPB5|Q4VBP5|Q86TY4	Nonsense_Mutation	SNP	ENST00000313833.4	37	c.1867C>T	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	C	35	5.565546	0.96540	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	.	.	.	5.91	-0.852	0.10713	.	0.506389	0.19123	N	0.122126	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4385	0.16494	0.3371:0.4711:0.0:0.1917	.	.	.	.	X	623	.	ENSP00000313159:R623X	R	+	1	2	FBXO34	54888728	0.001000	0.12720	0.944000	0.38274	0.933000	0.57130	0.449000	0.21744	-0.135000	0.11495	-0.136000	0.14681	CGA		0.473	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			35	60	0	0	0	1	0	35	60				
GORAB	92344	broad.mit.edu	37	1	170513868	170513868	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:170513868A>G	ENST00000367763.3	+	4	639	c.619A>G	c.(619-621)Acc>Gcc	p.T207A	GORAB_ENST00000367762.1_Missense_Mutation_p.T207A	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	207						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TCAGGCAGAGACCATGAAACT	0.413																																						ENST00000367763.3																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(619-621)Acc>Gcc		golgin, RAB6-interacting							122.0	120.0	120.0					1																	170513868		2203	4300	6503	SO:0001583	missense	92344					Golgi apparatus|nucleus		g.chr1:170513868A>G	AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.619A>G	1.37:g.170513868A>G	ENSP00000356737:p.Thr207Ala					GORAB_ENST00000367762.1_Missense_Mutation_p.T207A	p.T207A	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN			4	639	+			207					Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Missense_Mutation	SNP	ENST00000367763.3	37	c.619A>G	CCDS1289.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.970682	0.53614	.	.	ENSG00000120370	ENST00000367763;ENST00000367762	T;T	0.61859	0.07;0.07	6.08	4.95	0.65309	.	0.102627	0.64402	N	0.000001	T	0.16214	0.0390	N	0.12611	0.24	0.39606	D	0.969805	B	0.16166	0.016	B	0.19148	0.024	T	0.11131	-1.0600	10	0.09590	T	0.72	-26.2998	9.1941	0.37217	0.8597:0.0:0.1403:0.0	.	207	Q5T7V8	GORAB_HUMAN	A	207	ENSP00000356737:T207A;ENSP00000356736:T207A	ENSP00000356736:T207A	T	+	1	0	GORAB	168780492	1.000000	0.71417	0.982000	0.44146	0.829000	0.46940	3.904000	0.56325	1.116000	0.41820	0.482000	0.46254	ACC		0.413	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281		36	129	0	0	0	1	0	36	129				
FBXO21	23014	broad.mit.edu	37	12	117612582	117612582	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:117612582A>G	ENST00000330622.5	-	5	612	c.613T>C	c.(613-615)Tac>Cac	p.Y205H	FBXO21_ENST00000549689.1_5'UTR|FBXO21_ENST00000427718.2_Missense_Mutation_p.Y205H			O94952	FBX21_HUMAN	F-box protein 21	205					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GGATTGCAGTACTGGTCAATA	0.428																																					GBM(168;452 2038 13535 17701 43680)	ENST00000427718.2																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29						c.(613-615)Tac>Cac		F-box protein 21							128.0	112.0	117.0					12																	117612582		2203	4300	6503	SO:0001583	missense	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117612582A>G	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.613T>C	12.37:g.117612582A>G	ENSP00000328187:p.Tyr205His					FBXO21_ENST00000330622.5_Missense_Mutation_p.Y205H|FBXO21_ENST00000549689.1_5'UTR	p.Y205H	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	5	687	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		205					B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	c.613T>C	CCDS9184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.0|26.0	4.696732|4.696732	0.88830|0.88830	.|.	.|.	ENSG00000135108|ENSG00000135108	ENST00000550180|ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622	.|T;T	.|0.49139	.|0.79;0.8	5.32|5.32	5.32|5.32	0.75619|0.75619	.|F-box domain, Skp2-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61553|0.61553	0.2356|0.2356	L|L	0.51422|0.51422	1.61|1.61	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D	.|0.76494	.|0.999;0.998;0.986	.|D;D;D	.|0.78314	.|0.973;0.991;0.933	T|T	0.57271|0.57271	-0.7840|-0.7840	5|10	.|0.25751	.|T	.|0.34	-11.8072|-11.8072	15.296|15.296	0.73910|0.73910	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|121;205;205	.|Q8IUQ5;O94952;O94952-1	.|.;FBX21_HUMAN;.	A|H	148|205;121;121;205	.|ENSP00000414468:Y205H;ENSP00000328187:Y205H	.|ENSP00000257563:Y121H	V|Y	-|-	2|1	0|0	FBXO21|FBXO21	116096965|116096965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	8.608000|8.608000	0.90895|0.90895	2.039000|2.039000	0.60335|0.60335	0.459000|0.459000	0.35465|0.35465	GTA|TAC		0.428	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		44	114	0	0	0	1	0	44	114				
CAGE1	285782	broad.mit.edu	37	6	7373421	7373421	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:7373421T>C	ENST00000512086.1	-	5	1833	c.1631A>G	c.(1630-1632)aAt>aGt	p.N544S	CAGE1_ENST00000296742.7_Missense_Mutation_p.N408S|CAGE1_ENST00000502583.1_Missense_Mutation_p.N544S|CAGE1_ENST00000379918.4_Missense_Mutation_p.N544S|CAGE1_ENST00000509324.1_5'Flank|CAGE1_ENST00000338150.4_Missense_Mutation_p.N544S			Q8TC20	CAGE1_HUMAN	cancer antigen 1	544										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AAGTTTTGCATTCTCATTTTT	0.333																																						ENST00000502583.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19						c.(1630-1632)aAt>aGt		cancer antigen 1							163.0	134.0	143.0					6																	7373421		1837	4078	5915	SO:0001583	missense	285782							g.chr6:7373421T>C	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1631A>G	6.37:g.7373421T>C	ENSP00000427583:p.Asn544Ser					CAGE1_ENST00000338150.4_Missense_Mutation_p.N544S|CAGE1_ENST00000512086.1_Missense_Mutation_p.N544S|CAGE1_ENST00000379918.4_Missense_Mutation_p.N544S|CAGE1_ENST00000296742.7_Missense_Mutation_p.N408S	p.N544S	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN			5	2195	-	Ovarian(93;0.0418)		544					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	ENST00000512086.1	37	c.1631A>G		.	.	.	.	.	.	.	.	.	.	T	7.537	0.659800	0.14645	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	T;T;T;T;T;T	0.52295	1.05;1.06;1.07;1.07;1.05;0.67	5.38	4.21	0.49690	.	0.286546	0.30177	N	0.010234	T	0.39963	0.1098	L	0.55481	1.735	0.09310	N	1	D;P;D	0.71674	0.998;0.925;0.972	D;P;P	0.66847	0.947;0.691;0.797	T	0.22173	-1.0224	10	0.18276	T	0.48	-6.9768	8.6408	0.33976	0.17:0.0:0.0:0.83	.	544;544;544	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	S	544;544;544;408;544;544;544;556	ENSP00000369250:N544S;ENSP00000425493:N544S;ENSP00000296742:N408S;ENSP00000427583:N544S;ENSP00000338107:N544S;ENSP00000423789:N556S	ENSP00000296742:N408S	N	-	2	0	CAGE1	7318420	0.386000	0.25180	0.019000	0.16419	0.013000	0.08279	1.364000	0.34171	0.865000	0.35603	0.482000	0.46254	AAT		0.333	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		11	33	0	0	0	1	0	11	33				
CHRND	1144	broad.mit.edu	37	2	233392981	233392981	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:233392981G>T	ENST00000258385.3	+	4	285	c.253G>T	c.(253-255)Gac>Tac	p.D85Y	CHRND_ENST00000536614.1_Missense_Mutation_p.D85Y|CHRND_ENST00000457943.2_5'UTR|CHRND_ENST00000543200.1_Missense_Mutation_p.D70Y	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	85					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	GGGCTGGACAGACAACCGGCT	0.572																																						ENST00000258385.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(253-255)Gac>Tac		cholinergic receptor, nicotinic, delta (muscle)							101.0	99.0	100.0					2																	233392981		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233392981G>T	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.253G>T	2.37:g.233392981G>T	ENSP00000258385:p.Asp85Tyr					CHRND_ENST00000536614.1_Missense_Mutation_p.D85Y|CHRND_ENST00000457943.2_5'UTR|CHRND_ENST00000543200.1_Missense_Mutation_p.D70Y	p.D85Y	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	4	285	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	85					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.253G>T	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.283003	0.80692	.	.	ENSG00000135902	ENST00000449596;ENST00000543200;ENST00000258385;ENST00000536614	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	4.16	4.16	0.48862	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.98102	0.9374	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99632	1.0986	10	0.87932	D	0	.	16.6276	0.84975	0.0:0.0:1.0:0.0	.	70;85	B4DT92;Q07001	.;ACHD_HUMAN	Y	70;70;85;85	ENSP00000404950:D70Y;ENSP00000438380:D70Y;ENSP00000258385:D85Y;ENSP00000437740:D85Y	ENSP00000258385:D85Y	D	+	1	0	CHRND	233101225	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.495000	0.97964	2.337000	0.79520	0.561000	0.74099	GAC		0.572	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			12	58	1	0	1.08611e-07	1	1.11655e-07	12	58				
POLR2A	5430	broad.mit.edu	37	17	7412422	7412422	+	Missense_Mutation	SNP	C	C	T	rs140375256		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:7412422C>T	ENST00000322644.6	+	21	4024	c.3625C>T	c.(3625-3627)Ccc>Tcc	p.P1209S		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1209					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)|regulation of transcription, DNA-templated (GO:0006355)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCGAATCTCCCCCTGGCTGTT	0.542																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(3625-3627)Ccc>Tcc		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							112.0	75.0	87.0					17																	7412422		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|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|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7412422C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.3625C>T	17.37:g.7412422C>T	ENSP00000314949:p.Pro1209Ser						p.P1209S	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			21	4024	+		Prostate(122;0.173)	1209					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.3625C>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910766	0.92178	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.67171	-0.25	5.51	5.51	0.81932	RNA polymerase Rpb1, domain 5 (1);RNA polymerase Rpb1, domain 7 (1);	0.000000	0.85682	D	0.000000	T	0.75845	0.3905	M	0.72894	2.215	0.80722	D	1	P	0.45634	0.863	P	0.50049	0.629	T	0.78884	-0.2028	10	0.87932	D	0	-12.4593	18.2528	0.90009	0.0:1.0:0.0:0.0	.	1209	P24928	RPB1_HUMAN	S	1165;108;1209	ENSP00000314949:P1209S	ENSP00000314949:P1209S	P	+	1	0	SLC35G6	7353146	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.163000	0.77524	2.611000	0.88343	0.449000	0.29647	CCC		0.542	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		17	60	0	0	0	1	0	17	60				
EHD3	30845	broad.mit.edu	37	2	31489200	31489200	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:31489200C>T	ENST00000322054.5	+	6	1523	c.1238C>T	c.(1237-1239)gCg>gTg	p.A413V	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	413					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AAGGGCGGAGCGTTCGAGGGC	0.637																																						ENST00000322054.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(1237-1239)gCg>gTg		EH-domain containing 3							68.0	65.0	66.0					2																	31489200		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31489200C>T	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1238C>T	2.37:g.31489200C>T	ENSP00000327116:p.Ala413Val					EHD3_ENST00000541626.1_3'UTR	p.A413V	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN			6	1523	+	Acute lymphoblastic leukemia(172;0.155)		413					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.1238C>T	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317980	0.60524	.	.	ENSG00000013016	ENST00000322054	T	0.19669	2.13	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.29158	0.0725	M	0.87269	2.87	0.80722	D	1	D	0.56746	0.977	B	0.30572	0.117	T	0.51084	-0.8750	10	0.59425	D	0.04	-18.9526	20.1432	0.98067	0.0:1.0:0.0:0.0	.	413	Q9NZN3	EHD3_HUMAN	V	413	ENSP00000327116:A413V	ENSP00000327116:A413V	A	+	2	0	EHD3	31342704	1.000000	0.71417	0.914000	0.36105	0.302000	0.27658	5.975000	0.70475	2.769000	0.95229	0.561000	0.74099	GCG		0.637	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		16	45	0	0	0	1	0	16	45				
PCDHB8	56128	broad.mit.edu	37	5	140559068	140559068	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140559068G>A	ENST00000239444.2	+	1	1698	c.1453G>A	c.(1453-1455)Gcc>Acc	p.A485T	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	485	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCACCAACGCCCAGGTCAC	0.652																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1453-1455)Gcc>Acc									85.0	131.0	115.0					5																	140559068		2203	4297	6500	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559068G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1453G>A	5.37:g.140559068G>A	ENSP00000239444:p.Ala485Thr						p.A485T	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1698	+			485			Cadherin 5.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1453G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394226	0.83011	.	.	ENSG00000120322	ENST00000239444	T	0.52295	0.67	4.0	4.0	0.46444	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.76176	0.3951	H	0.94847	3.59	0.44469	D	0.997408	D	0.76494	0.999	D	0.71870	0.975	D	0.84864	0.0821	9	0.87932	D	0	.	15.8007	0.78453	0.0:0.0:1.0:0.0	.	485	Q9UN66	PCDB8_HUMAN	T	485	ENSP00000239444:A485T	ENSP00000239444:A485T	A	+	1	0	PCDHB8	140539252	0.930000	0.31532	0.998000	0.56505	0.759000	0.43091	4.425000	0.59875	1.798000	0.52647	0.298000	0.19748	GCC		0.652	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		81	1744	0	0	0	1	0	81	1744				
CEACAM18	729767	broad.mit.edu	37	19	51983803	51983803	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:51983803G>A	ENST00000396477.4	+	2	290	c.269G>A	c.(268-270)gGc>gAc	p.G90D	CEACAM18_ENST00000451626.1_Missense_Mutation_p.G151D	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	90										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATGTACACTGGCAGGGAGAGA	0.552																																						ENST00000396477.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17						c.(268-270)gGc>gAc		carcinoembryonic antigen-related cell adhesion molecule 18							61.0	63.0	62.0					19																	51983803		1988	4169	6157	SO:0001583	missense	729767					integral to membrane		g.chr19:51983803G>A			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.269G>A	19.37:g.51983803G>A	ENSP00000379738:p.Gly90Asp					CEACAM18_ENST00000451626.1_Missense_Mutation_p.G151D	p.G90D	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	290	+		all_neural(266;0.0529)	151					C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.269G>A		.	.	.	.	.	.	.	.	.	.	.	14.13	2.442281	0.43326	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.70282	-0.47	2.92	0.691	0.18045	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75627	0.3875	M	0.81614	2.55	0.09310	N	1	P	0.37370	0.592	P	0.48488	0.579	T	0.66658	-0.5868	9	0.56958	D	0.05	-12.5967	5.3041	0.15793	0.2815:0.0:0.7185:0.0	.	151	A8MTB9	CEA18_HUMAN	D	151;90;90	ENSP00000402203:G151D	ENSP00000379738:G90D	G	+	2	0	CEACAM18	56675615	0.032000	0.19561	0.000000	0.03702	0.064000	0.16182	1.556000	0.36288	0.303000	0.22785	0.650000	0.86243	GGC		0.552	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			24	72	0	0	0	1	0	24	72				
UAP1L1	91373	broad.mit.edu	37	9	139972841	139972841	+	Intron	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:139972841C>T	ENST00000409858.3	+	3	526				UAP1L1_ENST00000476184.1_Intron|UAP1L1_ENST00000360271.3_Missense_Mutation_p.P5S	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1								uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GGGGCCTGGCCCCAGCCCCAA	0.726																																						ENST00000360271.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(13-15)Ccc>Tcc		UDP-N-acteylglucosamine pyrophosphorylase 1-like 1							11.0	14.0	13.0					9																	139972841		2182	4274	6456	SO:0001627	intron_variant	91373						nucleotidyltransferase activity	g.chr9:139972841C>T	AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.495-113C>T	9.37:g.139972841C>T						UAP1L1_ENST00000476184.1_Intron|UAP1L1_ENST00000409858.3_Intron	p.P5S			Q3KQV9	UAP1L_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	1	249	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	0					A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Missense_Mutation	SNP	ENST00000409858.3	37	c.13C>T	CCDS7028.2	.	.	.	.	.	.	.	.	.	.	C	5.583	0.292304	0.10567	.	.	ENSG00000197355	ENST00000360271	T	0.25085	1.82	2.41	-4.81	0.03180	.	1.269160	0.05883	U	0.626743	T	0.14614	0.0353	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27365	-1.0076	9	0.66056	D	0.02	.	1.0544	0.01587	0.1573:0.1787:0.1754:0.4885	.	5	Q3KQV9-2	.	S	5	ENSP00000353409:P5S	ENSP00000353409:P5S	P	+	1	0	UAP1L1	139092662	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.225000	0.09151	-1.528000	0.01756	-0.266000	0.10368	CCC		0.726	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063		3	31	0	0	0	1	0	3	31				
ABCG8	64241	broad.mit.edu	37	2	44073331	44073331	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:44073331T>C	ENST00000272286.2	+	3	293	c.203T>C	c.(202-204)cTg>cCg	p.L68P		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	68	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TTTGAGCAGCTGGCTCAGTTC	0.532																																						ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(202-204)cTg>cCg		ATP-binding cassette, sub-family G (WHITE), member 8							67.0	67.0	67.0					2																	44073331		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44073331T>C	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.203T>C	2.37:g.44073331T>C	ENSP00000272286:p.Leu68Pro						p.L68P	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			3	293	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	68			ABC transporter.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.203T>C	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.544739	0.65198	.	.	ENSG00000143921	ENST00000272286	D	0.88896	-2.44	5.69	5.69	0.88448	ABC transporter-like (1);	0.000000	0.64402	D	0.000001	D	0.90521	0.7030	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90183	0.4244	10	0.36615	T	0.2	.	15.9604	0.79926	0.0:0.0:0.0:1.0	.	68;68	Q9H221-2;Q9H221	.;ABCG8_HUMAN	P	68	ENSP00000272286:L68P	ENSP00000272286:L68P	L	+	2	0	ABCG8	43926835	0.998000	0.40836	0.993000	0.49108	0.414000	0.31173	7.401000	0.79962	2.168000	0.68352	0.528000	0.53228	CTG		0.532	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		33	82	0	0	0	1	0	33	82				
TNIK	23043	broad.mit.edu	37	3	170802065	170802065	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:170802065T>C	ENST00000436636.2	-	26	3392	c.3048A>G	c.(3046-3048)gaA>gaG	p.E1016E	TNIK_ENST00000460047.1_Silent_p.E953E|TNIK_ENST00000357327.5_Silent_p.E987E|TNIK_ENST00000369326.5_Silent_p.E994E|TNIK_ENST00000488470.1_Silent_p.E961E|TNIK_ENST00000475336.1_Silent_p.E924E|TNIK_ENST00000470834.1_Silent_p.E979E|TNIK_ENST00000538048.1_Silent_p.E968E|TNIK_ENST00000284483.8_Silent_p.E1008E|TNIK_ENST00000341852.6_Silent_p.E932E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1016	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCTTTCTTGCTTCATTGAGTT	0.378																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(3046-3048)gaA>gaG		TRAF2 and NCK interacting kinase							150.0	145.0	146.0					3																	170802065		1852	4102	5954	SO:0001819	synonymous_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170802065T>C	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3048A>G	3.37:g.170802065T>C						TNIK_ENST00000538048.1_Silent_p.E968E|TNIK_ENST00000341852.6_Silent_p.E932E|TNIK_ENST00000470834.1_Silent_p.E979E|TNIK_ENST00000369326.5_Silent_p.E994E|TNIK_ENST00000460047.1_Silent_p.E953E|TNIK_ENST00000488470.1_Silent_p.E961E|TNIK_ENST00000357327.5_Silent_p.E987E|TNIK_ENST00000284483.8_Silent_p.E1008E|TNIK_ENST00000475336.1_Silent_p.E924E	p.E1016E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		26	3392	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1016			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	c.3048A>G	CCDS46956.1																																																																																				0.378	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		40	99	0	0	0	1	0	40	99				
CNGA3	1261	broad.mit.edu	37	2	99013682	99013682	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:99013682C>T	ENST00000272602.2	+	7	2088	c.2049C>T	c.(2047-2049)ccC>ccT	p.P683P	CNGA3_ENST00000409937.1_Silent_p.P687P|CNGA3_ENST00000393504.1_Silent_p.P683P|CNGA3_ENST00000436404.2_Silent_p.P665P			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	683					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGGAAGTTCCCGGGGATGCTA	0.557																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(2047-2049)ccC>ccT		cyclic nucleotide gated channel alpha 3																																				SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013682C>T	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.2049C>T	2.37:g.99013682C>T						CNGA3_ENST00000272602.2_Silent_p.P683P|CNGA3_ENST00000409937.1_Silent_p.P687P|CNGA3_ENST00000436404.2_Silent_p.P665P	p.P683P	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	2466	+			683					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.2049C>T	CCDS2034.1																																																																																				0.557	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		19	46	0	0	0	1	0	19	46				
ITGB8	3696	broad.mit.edu	37	7	20441436	20441436	+	Silent	SNP	C	C	T	rs199631894		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:20441436C>T	ENST00000222573.4	+	10	2058	c.1374C>T	c.(1372-1374)acC>acT	p.T458T	ITGB8_ENST00000537992.1_Silent_p.T323T	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	458					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TTAATGAAACCGCTAAAATTC	0.338													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17349	0.0		0.0	False		,,,				2504	0.0					ENST00000222573.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(1372-1374)acC>acT		integrin, beta 8							99.0	101.0	100.0					7																	20441436		2203	4300	6503	SO:0001819	synonymous_variant	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20441436C>T		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.1374C>T	7.37:g.20441436C>T						ITGB8_ENST00000537992.1_Silent_p.T323T	p.T458T	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN			10	2058	+			458					A4D133|B4DHD4	Silent	SNP	ENST00000222573.4	37	c.1374C>T	CCDS5370.1																																																																																				0.338	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		22	101	0	0	0	1	0	22	101				
ADRA2C	152	broad.mit.edu	37	4	3768770	3768770	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:3768770G>A	ENST00000330055.5	+	1	646	c.437G>A	c.(436-438)aGc>aAc	p.S146N	ADRA2C_ENST00000509482.1_Missense_Mutation_p.S146N	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	146					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGTGCCATCAGCCTGGACCGC	0.627																																					Esophageal Squamous(12;454 628 4517 14479)	ENST00000330055.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(436-438)aGc>aAc		adrenoceptor alpha 2C	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						75.0	73.0	74.0					4																	3768770		2202	4300	6502	SO:0001583	missense	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3768770G>A	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.437G>A	4.37:g.3768770G>A	ENSP00000386069:p.Ser146Asn					ADRA2C_ENST00000509482.1_Missense_Mutation_p.S146N	p.S146N	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	646	+			146					P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.437G>A	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078381	0.76528	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.81330	-1.48;-1.48	3.34	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.93729	0.7996	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95872	0.8892	9	0.87932	D	0	.	13.8323	0.63389	0.0:0.0:1.0:0.0	.	146;146	D6RGL0;P18825	.;ADA2C_HUMAN	N	146	ENSP00000426268:S146N;ENSP00000386069:S146N	ENSP00000386069:S146N	S	+	2	0	ADRA2C	3738568	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	8.284000	0.89912	1.700000	0.51204	0.561000	0.74099	AGC		0.627	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		5	62	0	0	0	1	0	5	62				
ERBB3	2065	broad.mit.edu	37	12	56480409	56480409	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56480409T>C	ENST00000267101.3	+	4	956	c.516T>C	c.(514-516)gcT>gcC	p.A172A	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Silent_p.A113A	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	172					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACCGAGATGCTGAGATAGTGG	0.493																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(514-516)gcT>gcC		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							283.0	225.0	244.0					12																	56480409		2203	4300	6503	SO:0001819	synonymous_variant	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56480409T>C	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.516T>C	12.37:g.56480409T>C						ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Silent_p.A113A	p.A172A	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		4	956	+			172					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	ENST00000267101.3	37	c.516T>C	CCDS31833.1																																																																																				0.493	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			5	198	0	0	0	1	0	5	198				
SIRT4	23409	broad.mit.edu	37	12	120750423	120750423	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:120750423T>C	ENST00000202967.4	+	3	721	c.662T>C	c.(661-663)gTt>gCt	p.V221A	RNU6-1088P_ENST00000516850.1_RNA|SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAACCTGCGTTCAATGTGGA	0.542																																						ENST00000202967.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9						c.(661-663)gTt>gCt		sirtuin 4							69.0	63.0	65.0					12																	120750423		2203	4300	6503	SO:0001583	missense	23409				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	g.chr12:120750423T>C	AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.662T>C	12.37:g.120750423T>C	ENSP00000202967:p.Val221Ala					SIRT4_ENST00000537892.1_3'UTR	p.V221A	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN			3	721	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		221			Deacetylase sirtuin-type.			Missense_Mutation	SNP	ENST00000202967.4	37	c.662T>C	CCDS9194.1	.	.	.	.	.	.	.	.	.	.	T	0.045	-1.271254	0.01421	.	.	ENSG00000089163	ENST00000202967	T	0.15952	2.38	4.5	-2.21	0.06973	.	1.014420	0.07849	N	0.964368	T	0.04318	0.0119	N	0.01202	-0.96	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41088	-0.9528	10	0.18276	T	0.48	0.0442	2.937	0.05817	0.2194:0.4917:0.1683:0.1206	.	221	Q9Y6E7	SIRT4_HUMAN	A	221	ENSP00000202967:V221A	ENSP00000202967:V221A	V	+	2	0	SIRT4	119234806	0.000000	0.05858	0.014000	0.15608	0.331000	0.28603	0.150000	0.16263	-0.151000	0.11176	-0.361000	0.07541	GTT		0.542	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240		7	84	0	0	0	1	0	7	84				
CD200R1	131450	broad.mit.edu	37	3	112648055	112648055	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:112648055A>G	ENST00000471858.1	-	3	665	c.433T>C	c.(433-435)Tat>Cat	p.Y145H	CD200R1_ENST00000295863.4_Missense_Mutation_p.Y123H|CD200R1_ENST00000490004.1_Missense_Mutation_p.Y145H|CD200R1_ENST00000440122.2_Missense_Mutation_p.Y168H|CD200R1_ENST00000308611.3_Missense_Mutation_p.Y168H	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	145	Ig-like C2-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TGGAGGTGATATCCACGATGG	0.418																																						ENST00000471858.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						c.(433-435)Tat>Cat		CD200 receptor 1							122.0	116.0	118.0					3																	112648055		2203	4300	6503	SO:0001583	missense	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112648055A>G	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.433T>C	3.37:g.112648055A>G	ENSP00000418928:p.Tyr145His					CD200R1_ENST00000490004.1_Missense_Mutation_p.Y145H|CD200R1_ENST00000295863.4_Missense_Mutation_p.Y123H|CD200R1_ENST00000308611.3_Missense_Mutation_p.Y168H|CD200R1_ENST00000440122.2_Missense_Mutation_p.Y168H	p.Y145H	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN			3	665	-			145			Ig-like C2-type.		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	ENST00000471858.1	37	c.433T>C	CCDS2970.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329346	0.41197	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	T;T;T;T;T	0.65178	1.55;1.55;1.55;-0.14;-0.14	5.47	1.7	0.24286	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.744172	0.12820	N	0.436501	T	0.55862	0.1947	L	0.52905	1.665	0.19775	N	0.999951	P;P;P;B;P	0.44816	0.516;0.703;0.844;0.266;0.559	B;B;B;B;B	0.42319	0.349;0.276;0.383;0.077;0.383	T	0.45659	-0.9246	10	0.51188	T	0.08	.	8.0496	0.30570	0.7553:0.0:0.2447:0.0	.	123;145;168;145;168	B4E2U2;Q8TD46-3;Q8TD46-2;Q8TD46;Q8TD46-4	.;.;.;MO2R1_HUMAN;.	H	145;168;123;168;145	ENSP00000418928:Y145H;ENSP00000311035:Y168H;ENSP00000295863:Y123H;ENSP00000405733:Y168H;ENSP00000418801:Y145H	ENSP00000295863:Y123H	Y	-	1	0	CD200R1	114130745	0.004000	0.15560	0.270000	0.24601	0.654000	0.38779	1.037000	0.30241	0.371000	0.24564	0.455000	0.32223	TAT		0.418	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		41	100	0	0	0	1	0	41	100				
TRIM72	493829	broad.mit.edu	37	16	31235598	31235598	+	Missense_Mutation	SNP	C	C	T	rs571127764		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:31235598C>T	ENST00000322122.3	+	7	1240	c.956C>T	c.(955-957)cCg>cTg	p.P319L	RP11-388M20.9_ENST00000576745.1_lincRNA	NM_001008274.3	NP_001008275.2			tripartite motif containing 72, E3 ubiquitin protein ligase											breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						CAGAAGGCGCCGCCGGCCGGG	0.706													C|||	1	0.000199681	0.0	0.0	5008	,	,		10866	0.001		0.0	False		,,,				2504	0.0					ENST00000322122.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						c.(955-957)cCg>cTg		tripartite motif containing 72							15.0	17.0	16.0					16																	31235598		2191	4284	6475	SO:0001583	missense	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31235598C>T	AK090695	CCDS32437.1	16p11.2	2014-02-10	2014-02-10					"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32671	protein-coding gene	gene with protein product	"""mitsugumin 53"""	613288	"""tripartite motif-containing 72"", ""tripartite motif containing 72"""			20399744, 23354051	Standard	NM_001008274		Approved	MG53	uc002ebn.2	Q6ZMU5		ENST00000322122.3:c.956C>T	16.37:g.31235598C>T	ENSP00000312675:p.Pro319Leu						p.P319L	NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN			7	1240	+			319			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000322122.3	37	c.956C>T	CCDS32437.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835235	0.71373	.	.	ENSG00000177238	ENST00000322122	T	0.11385	2.78	5.44	4.47	0.54385	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.084546	0.50627	D	0.000102	T	0.18676	0.0448	L	0.31294	0.92	0.47994	D	0.999564	D	0.89917	1.0	P	0.62382	0.901	T	0.02484	-1.1152	10	0.30078	T	0.28	.	14.9494	0.71060	0.0:0.8558:0.1442:0.0	.	319	Q6ZMU5	TRI72_HUMAN	L	319	ENSP00000312675:P319L	ENSP00000312675:P319L	P	+	2	0	TRIM72	31143099	0.005000	0.15991	0.976000	0.42696	0.717000	0.41224	0.824000	0.27379	1.270000	0.44297	0.491000	0.48974	CCG		0.706	TRIM72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433567.1	NM_001008274		7	31	0	0	0	1	0	7	31				
INSRR	3645	broad.mit.edu	37	1	156815812	156815812	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:156815812T>C	ENST00000368195.3	-	9	2306	c.1910A>G	c.(1909-1911)tAc>tGc	p.Y637C	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	637	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CACCAGGTAGTAGGTGAGGTT	0.677																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1909-1911)tAc>tGc		insulin receptor-related receptor							78.0	71.0	74.0					1																	156815812		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156815812T>C	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1910A>G	1.37:g.156815812T>C	ENSP00000357178:p.Tyr637Cys					NTRK1_ENST00000392302.2_Intron	p.Y637C	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			9	2306	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		637			Fibronectin type-III 2.		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.1910A>G	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.462456	0.63513	.	.	ENSG00000027644	ENST00000368195	T	0.77358	-1.09	4.84	4.84	0.62591	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.42548	D	0.000691	D	0.83677	0.5306	.	.	.	0.44719	D	0.997713	D	0.76494	0.999	D	0.65573	0.936	D	0.86311	0.1686	9	0.87932	D	0	.	12.6847	0.56942	0.0:0.0:0.0:1.0	.	637	P14616	INSRR_HUMAN	C	637	ENSP00000357178:Y637C	ENSP00000357178:Y637C	Y	-	2	0	INSRR	155082436	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.778000	0.68940	2.169000	0.68431	0.459000	0.35465	TAC		0.677	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		15	45	0	0	0	1	0	15	45				
OR52N4	390072	broad.mit.edu	37	11	5776763	5776763	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:5776763C>T	ENST00000317254.3	+	1	841	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	265						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(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTTTTCCCACCGCTTTGGGGA	0.473																																						ENST00000317254.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(793-795)Cgc>Tgc		olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)							200.0	188.0	192.0					11																	5776763		1983	4195	6178	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776763C>T	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.793C>T	11.37:g.5776763C>T	ENSP00000323224:p.Arg265Cys					TRIM5_ENST00000380027.1_Intron	p.R265C	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	841	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	265					B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.793C>T	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665422	0.47677	.	.	ENSG00000181074	ENST00000317254	T	0.37411	1.2	5.72	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39475	N	0.001355	T	0.40222	0.1108	M	0.85462	2.755	0.23975	N	0.996297	B	0.26708	0.157	B	0.33196	0.159	T	0.46176	-0.9210	10	0.87932	D	0	.	4.4116	0.11436	0.2522:0.5219:0.0:0.2259	.	265	Q8NGI2	O52N4_HUMAN	C	265	ENSP00000323224:R265C	ENSP00000323224:R265C	R	+	1	0	OR52N4	5733339	0.000000	0.05858	0.390000	0.26220	0.984000	0.73092	0.081000	0.14823	0.367000	0.24454	0.644000	0.83932	CGC		0.473	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		34	143	0	0	0	1	0	34	143				
EPHB3	2049	broad.mit.edu	37	3	184297495	184297495	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:184297495C>T	ENST00000330394.2	+	11	2397	c.1945C>T	c.(1945-1947)Cgt>Tgt	p.R649C	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	649	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGAAGTGTGCCGTGGTCGACT	0.612																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1945-1947)Cgt>Tgt		EPH receptor B3							59.0	59.0	59.0					3																	184297495		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184297495C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1945C>T	3.37:g.184297495C>T	ENSP00000332118:p.Arg649Cys					EIF2B5_ENST00000444495.1_Intron	p.R649C	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		11	2397	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		649			Protein kinase.		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.1945C>T	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038283	0.75617	.	.	ENSG00000182580	ENST00000330394	T	0.64085	-0.08	4.6	3.58	0.41010	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.119212	0.56097	D	0.000024	T	0.75997	0.3926	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77477	-0.2573	10	0.49607	T	0.09	.	13.3852	0.60791	0.2009:0.7991:0.0:0.0	.	649	P54753	EPHB3_HUMAN	C	649	ENSP00000332118:R649C	ENSP00000332118:R649C	R	+	1	0	EPHB3	185780189	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.887000	0.56197	2.271000	0.75665	0.551000	0.68910	CGT		0.612	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		16	56	0	0	0	1	0	16	56				
IPO11	51194	broad.mit.edu	37	5	61923013	61923013	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:61923013A>G	ENST00000325324.6	+	30	2965	c.2796A>G	c.(2794-2796)tcA>tcG	p.S932S	IPO11_ENST00000409296.3_Silent_p.S972S|IPO11_ENST00000512177.1_3'UTR|IPO11_ENST00000409534.1_Silent_p.S51S	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	932					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		ATACAGTGTCACTGCAGCAGT	0.483																																						ENST00000325324.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30						c.(2794-2796)tcA>tcG		importin 11							100.0	96.0	98.0					5																	61923013		2203	4300	6503	SO:0001819	synonymous_variant	51194					cytoplasm|nucleus	protein binding	g.chr5:61923013A>G	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.2796A>G	5.37:g.61923013A>G						IPO11_ENST00000409534.1_Silent_p.S51S|IPO11_ENST00000409296.3_Silent_p.S972S|IPO11_ENST00000512177.1_3'UTR	p.S932S	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	30	2965	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	932					A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Silent	SNP	ENST00000325324.6	37	c.2796A>G	CCDS34167.1																																																																																				0.483	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		8	58	0	0	0	1	0	8	58				
NUP210L	91181	broad.mit.edu	37	1	154072543	154072543	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:154072543T>C	ENST00000368559.3	-	14	1967	c.1896A>G	c.(1894-1896)acA>acG	p.T632T	NUP210L_ENST00000271854.3_Silent_p.T632T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	632					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCACACTTACTGTTACCAGAG	0.398																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(1894-1896)acA>acG		nucleoporin 210kDa-like							210.0	201.0	204.0					1																	154072543		1958	4157	6115	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:154072543T>C	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1896A>G	1.37:g.154072543T>C						NUP210L_ENST00000271854.3_Silent_p.T632T	p.T632T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		14	1967	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		632					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.1896A>G	CCDS41399.1																																																																																				0.398	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		63	159	0	0	0	1	0	63	159				
ERBB2IP	55914	broad.mit.edu	37	5	65349638	65349638	+	Missense_Mutation	SNP	A	A	G	rs143804809		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:65349638A>G	ENST00000284037.5	+	21	2881	c.2492A>G	c.(2491-2493)cAg>cGg	p.Q831R	ERBB2IP_ENST00000508515.1_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.Q827R|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.Q831R	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	831					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GAAACTTCCCAGTCTCCTAAT	0.388																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(2491-2493)cAg>cGg		erbb2 interacting protein							67.0	68.0	68.0					5																	65349638		2203	4300	6503	SO:0001583	missense	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65349638A>G		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2492A>G	5.37:g.65349638A>G	ENSP00000284037:p.Gln831Arg					ERBB2IP_ENST00000380936.1_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.Q827R|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.Q831R|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.Q831R	p.Q831R	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	2881	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	831					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	c.2492A>G	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	A	4.955	0.177453	0.09443	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.37058	1.41;1.41;1.41;1.61;1.22;1.48;1.41;1.44;1.22	5.62	3.19	0.36642	.	0.828968	0.11499	N	0.557877	T	0.20577	0.0495	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.08055	0.002;0.001;0.001;0.001;0.0;0.002;0.003	T	0.28332	-1.0047	10	0.13853	T	0.58	.	2.2287	0.03991	0.5265:0.1381:0.0735:0.2619	.	831;831;831;827;831;831;831	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	R	831;831;831;831;831;831;827;831;831	ENSP00000284037:Q831R;ENSP00000370330:Q831R;ENSP00000370326:Q831R;ENSP00000370323:Q831R;ENSP00000370322:Q831R;ENSP00000370325:Q831R;ENSP00000422766:Q827R;ENSP00000426632:Q831R;ENSP00000422015:Q831R	ENSP00000284037:Q831R	Q	+	2	0	ERBB2IP	65385394	0.932000	0.31603	0.992000	0.48379	0.974000	0.67602	1.646000	0.37249	0.911000	0.36747	0.421000	0.28195	CAG		0.388	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		10	29	0	0	0	1	0	10	29				
TRMT1L	81627	broad.mit.edu	37	1	185125810	185125810	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:185125810A>G	ENST00000367506.5	-	1	303	c.35T>C	c.(34-36)cTg>cCg	p.L12P	SWT1_ENST00000367501.3_5'Flank|SWT1_ENST00000367500.4_5'Flank|TRMT1L_ENST00000367504.3_5'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	12					adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTCCTTCTCCAGGGGCAGCAG	0.716																																						ENST00000367506.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(34-36)cTg>cCg		tRNA methyltransferase 1 homolog (S. cerevisiae)-like							15.0	20.0	18.0					1																	185125810		2130	4204	6334	SO:0001583	missense	81627					intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr1:185125810A>G	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.35T>C	1.37:g.185125810A>G	ENSP00000356476:p.Leu12Pro					TRMT1L_ENST00000367504.3_5'UTR	p.L12P	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN			1	303	-			12					Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	c.35T>C	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	A	15.63	2.889694	0.52014	.	.	ENSG00000121486	ENST00000367506	.	.	.	4.15	-6.6	0.01824	.	0.697047	0.11484	N	0.559459	T	0.24928	0.0605	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.02512	-1.1148	9	0.48119	T	0.1	4.9565	3.0922	0.06297	0.1771:0.1121:0.0989:0.612	.	12	Q7Z2T5	TRM1L_HUMAN	P	12	.	ENSP00000356476:L12P	L	-	2	0	TRMT1L	183392433	0.824000	0.29247	0.976000	0.42696	0.987000	0.75469	-0.788000	0.04614	-0.859000	0.04105	0.379000	0.24179	CTG		0.716	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		16	58	0	0	0	1	0	16	58				
FAM86EP	348926	broad.mit.edu	37	4	3948355	3948355	+	RNA	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:3948355G>A	ENST00000313946.8	-	0	1232				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		CTGCTCACCGGCCTCTGCCCG	0.642																																						ENST00000313946.8																			0																																																			348926							g.chr4:3948355G>A			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3948355G>A														0	1232	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.642	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			4	17	0	0	0	1	0	4	17				
TTN	7273	broad.mit.edu	37	2	179586855	179586855	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179586855T>C	ENST00000591111.1	-	76	21808	c.21584A>G	c.(21583-21585)aAg>aGg	p.K7195R	TTN_ENST00000342992.6_Missense_Mutation_p.K6268R|TTN_ENST00000589042.1_Missense_Mutation_p.K7512R|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12764					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)			GGGAGATTTCTTGGGTTCTGG	0.388																																						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.(22534-22536)aAg>aGg		titin							161.0	154.0	156.0					2																	179586855		1905	4112	6017	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179586855T>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.21584A>G	2.37:g.179586855T>C	ENSP00000465570:p.Lys7195Arg					TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K6268R|TTN_ENST00000591111.1_Missense_Mutation_p.K7195R|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	p.K7512R	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)		78	22759	-			7195			Ig-like 57.		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.22535A>G		.	.	.	.	.	.	.	.	.	.	T	10.93	1.490979	0.26774	.	.	ENSG00000155657	ENST00000342992	T	0.63096	-0.02	6.16	6.16	0.99307	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53126	0.1777	N	0.25485	0.75	0.80722	D	1	B	0.15930	0.015	B	0.15052	0.012	T	0.49969	-0.8882	9	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	7195	Q8WZ42	TITIN_HUMAN	R	6268	ENSP00000343764:K6268R	ENSP00000343764:K6268R	K	-	2	0	TTN	179295100	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.630000	0.54273	2.367000	0.80283	0.528000	0.53228	AAG		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	232	0	0	0	1	0	8	232				
BMPR2	659	broad.mit.edu	37	2	203383606	203383606	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:203383606C>T	ENST00000374580.4	+	6	1222	c.683C>T	c.(682-684)gCt>gTt	p.A228V	BMPR2_ENST00000374574.2_Missense_Mutation_p.A228V	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	228	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CGTCCAGTTGCTGTAAAAGTG	0.398																																						ENST00000374580.4																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						c.(682-684)gCt>gTt		bone morphogenetic protein receptor, type II (serine/threonine kinase)							107.0	100.0	102.0					2																	203383606		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203383606C>T	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.683C>T	2.37:g.203383606C>T	ENSP00000363708:p.Ala228Val					BMPR2_ENST00000374574.2_Missense_Mutation_p.A228V	p.A228V	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN			6	1222	+			228			Protein kinase.		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.683C>T	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521835	0.85600	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.97976	-4.64;-4.64	5.86	5.86	0.93980	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045964	0.85682	D	0.000000	D	0.98454	0.9485	M	0.89840	3.065	0.80722	D	1	P;D	0.62365	0.858;0.991	B;P	0.50231	0.124;0.635	D	0.99360	1.0917	10	0.87932	D	0	.	20.1996	0.98256	0.0:1.0:0.0:0.0	.	228;228	Q13161;Q13873	.;BMPR2_HUMAN	V	228	ENSP00000363708:A228V;ENSP00000363702:A228V	ENSP00000363702:A228V	A	+	2	0	BMPR2	203091851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.757000	0.85209	2.776000	0.95493	0.650000	0.86243	GCT		0.398	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204		30	70	0	0	0	1	0	30	70				
MED16	10025	broad.mit.edu	37	19	868422	868422	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:868422T>C	ENST00000589119.1	-	14	2476	c.2477A>G	c.(2476-2478)aAc>aGc	p.N826S	MED16_ENST00000395808.3_Missense_Mutation_p.N826S|MED16_ENST00000269814.4_3'UTR|MED16_ENST00000312090.6_Missense_Mutation_p.N845S|MED16_ENST00000325464.1_Missense_Mutation_p.N826S			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	826					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACAGGCAGTTCTTGATCCA	0.667																																						ENST00000312090.6																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(2533-2535)aAc>aGc		mediator complex subunit 16							37.0	35.0	36.0					19																	868422		2201	4296	6497	SO:0001583	missense	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:868422T>C	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.2477A>G	19.37:g.868422T>C	ENSP00000464810:p.Asn826Ser					MED16_ENST00000325464.1_Missense_Mutation_p.N826S|MED16_ENST00000269814.4_3'UTR|MED16_ENST00000589119.1_Missense_Mutation_p.N826S|MED16_ENST00000395808.3_Missense_Mutation_p.N826S	p.N845S			Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	16	2684	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	826					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.2534A>G	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.101646	0.37048	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808	T;T;T	0.39787	1.06;1.06;1.06	4.27	4.27	0.50696	.	0.000000	0.64402	D	0.000001	T	0.20251	0.0487	N	0.01874	-0.695	0.80722	D	1	P;P	0.36412	0.496;0.552	B;B	0.42462	0.269;0.388	T	0.10543	-1.0625	10	0.20519	T	0.43	-57.8277	9.0232	0.36213	0.0:0.0:0.1862:0.8138	.	845;826	Q9Y2X0-3;Q9Y2X0	.;MED16_HUMAN	S	826;845;826	ENSP00000325612:N826S;ENSP00000308528:N845S;ENSP00000379153:N826S	ENSP00000308528:N845S	N	-	2	0	MED16	819422	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.577000	0.60922	1.581000	0.49865	0.418000	0.28097	AAC		0.667	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		5	27	0	0	0	1	0	5	27				
TSHZ3	57616	broad.mit.edu	37	19	31770175	31770175	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:31770175G>A	ENST00000240587.4	-	2	851	c.524C>T	c.(523-525)aCg>aTg	p.T175M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	175					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTGCTGCAGCGTCTTAGCCAT	0.627																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(523-525)aCg>aTg		teashirt zinc finger homeobox 3							41.0	41.0	41.0					19																	31770175		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770175G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.524C>T	19.37:g.31770175G>A	ENSP00000240587:p.Thr175Met						p.T175M	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	851	-	Esophageal squamous(110;0.226)		175					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.524C>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978546	0.74360	.	.	ENSG00000121297	ENST00000240587	T	0.15017	2.46	5.44	5.44	0.79542	.	0.000000	0.85682	U	0.000000	T	0.39784	0.1091	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.13899	-1.0492	10	0.87932	D	0	-27.6023	19.2705	0.94008	0.0:0.0:1.0:0.0	.	175	Q63HK5	TSH3_HUMAN	M	175	ENSP00000240587:T175M	ENSP00000240587:T175M	T	-	2	0	TSHZ3	36462015	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.544000	0.82117	2.543000	0.85770	0.655000	0.94253	ACG		0.627	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		16	33	0	0	0	1	0	16	33				
CBX2	84733	broad.mit.edu	37	17	77757830	77757830	+	Silent	SNP	G	G	A	rs548352686	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:77757830G>A	ENST00000310942.4	+	5	692	c.588G>A	c.(586-588)ccG>ccA	p.P196P		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	196					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGGGGGCCCCGGCCAGCAAGC	0.701													G|||	2	0.000399361	0.0	0.0	5008	,	,		14385	0.0		0.0	False		,,,				2504	0.002					ENST00000310942.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16						c.(586-588)ccG>ccA		chromobox homolog 2							20.0	27.0	24.0					17																	77757830		2192	4295	6487	SO:0001819	synonymous_variant	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77757830G>A	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.588G>A	17.37:g.77757830G>A							p.P196P	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	692	+			196					Q0VDA5|Q9BTB1	Silent	SNP	ENST00000310942.4	37	c.588G>A	CCDS32757.1																																																																																				0.701	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		22	45	0	0	0	1	0	22	45				
C11orf30	56946	broad.mit.edu	37	11	76261120	76261120	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:76261120A>G	ENST00000529032.1	+	20	3899	c.3899A>G	c.(3898-3900)cAg>cGg	p.Q1300R	C11orf30_ENST00000524490.1_Missense_Mutation_p.Q1202R|C11orf30_ENST00000525919.1_Missense_Mutation_p.Q1301R|C11orf30_ENST00000524767.1_Missense_Mutation_p.Q1315R|C11orf30_ENST00000343878.3_Missense_Mutation_p.Q1133R|C11orf30_ENST00000525038.1_Missense_Mutation_p.Q1301R|C11orf30_ENST00000533248.1_Missense_Mutation_p.Q1209R|C11orf30_ENST00000334736.3_Missense_Mutation_p.Q1300R			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1300					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCAATGGAGCAGGACATAGAC	0.507																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(3898-3900)cAg>cGg		chromosome 11 open reading frame 30							109.0	103.0	105.0					11																	76261120		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76261120A>G	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3899A>G	11.37:g.76261120A>G	ENSP00000432327:p.Gln1300Arg					C11orf30_ENST00000343878.3_Missense_Mutation_p.Q1133R|C11orf30_ENST00000525919.1_Missense_Mutation_p.Q1301R|C11orf30_ENST00000533248.1_Missense_Mutation_p.Q1209R|C11orf30_ENST00000524490.1_Missense_Mutation_p.Q1202R|C11orf30_ENST00000524767.1_Missense_Mutation_p.Q1315R|C11orf30_ENST00000334736.3_Missense_Mutation_p.Q1300R|C11orf30_ENST00000525038.1_Missense_Mutation_p.Q1301R	p.Q1300R			Q7Z589	EMSY_HUMAN			20	3899	+			1300					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.3899A>G	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.891697	0.72524	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032;ENST00000532719	.	.	.	5.18	5.18	0.71444	.	0.056492	0.64402	D	0.000001	T	0.44138	0.1279	N	0.24115	0.695	0.36781	D	0.884356	P;B;B;B;B;B	0.48764	0.915;0.421;0.421;0.189;0.421;0.189	B;B;B;B;B;B	0.43990	0.438;0.118;0.118;0.024;0.118;0.024	T	0.57969	-0.7719	9	0.66056	D	0.02	-3.6908	15.1973	0.73104	1.0:0.0:0.0:0.0	.	1209;1301;1315;1301;1202;1300	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	R	1202;1300;1133;982;1315;1209;1301;1301;1300;273	.	ENSP00000334130:Q1300R	Q	+	2	0	C11orf30	75938768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.584000	0.74057	2.185000	0.69588	0.528000	0.53228	CAG		0.507	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		19	49	0	0	0	1	0	19	49				
SLC6A18	348932	broad.mit.edu	37	5	1232472	1232472	+	Missense_Mutation	SNP	T	T	C	rs372902218		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:1232472T>C	ENST00000324642.3	+	2	422	c.299T>C	c.(298-300)gTa>gCa	p.V100A	SLC6A18_ENST00000296821.4_Missense_Mutation_p.V100A	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	100					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTCAGTGGAGTAGGTAGGCCA	0.687																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(298-300)gTa>gCa		solute carrier family 6 (neutral amino acid transporter), member 18		T	ALA/VAL	0,4404		0,0,2202	30.0	30.0	30.0		299	4.3	0.0	5		30	1,8597		0,1,4298	no	missense	SLC6A18	NM_182632.2	64	0,1,6500	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	100/629	1232472	1,13001	2202	4299	6501	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1232472T>C	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.299T>C	5.37:g.1232472T>C	ENSP00000323549:p.Val100Ala					SLC6A18_ENST00000296821.4_Missense_Mutation_p.V100A	p.V100A	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	422	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		100						Missense_Mutation	SNP	ENST00000324642.3	37	c.299T>C	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081521	0.55753	0.0	1.16E-4	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.76968	-1.06;-1.06	5.45	4.28	0.50868	.	0.338596	0.26959	N	0.021640	T	0.79592	0.4472	M	0.65975	2.015	0.39422	D	0.966939	P	0.50066	0.931	P	0.49252	0.604	T	0.81106	-0.1083	10	0.87932	D	0	.	10.3289	0.43809	0.1467:0.0:0.0:0.8533	.	100	Q96N87	S6A18_HUMAN	A	100	ENSP00000323549:V100A;ENSP00000296821:V100A	ENSP00000296821:V100A	V	+	2	0	SLC6A18	1285472	0.997000	0.39634	0.004000	0.12327	0.045000	0.14185	3.477000	0.53151	0.889000	0.36185	0.402000	0.26972	GTA		0.687	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		3	23	0	0	0	1	0	3	23				
METTL6	131965	broad.mit.edu	37	3	15467981	15467981	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:15467981A>G	ENST00000443029.1	-	2	278	c.38T>C	c.(37-39)aTt>aCt	p.I13T	EAF1_ENST00000432764.2_5'Flank|EAF1_ENST00000396842.2_5'Flank|METTL6_ENST00000450816.2_Missense_Mutation_p.I13T|METTL6_ENST00000383790.3_Missense_Mutation_p.I13T|METTL6_ENST00000383789.5_Missense_Mutation_p.I13T			Q8TCB7	METL6_HUMAN	methyltransferase like 6	13							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						AGAGGTGAGAATCCTTGCCTG	0.408																																						ENST00000443029.1																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						c.(37-39)aTt>aCt		methyltransferase like 6							118.0	108.0	111.0					3																	15467981		1852	4108	5960	SO:0001583	missense	131965						methyltransferase activity	g.chr3:15467981A>G	AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562			28343	protein-coding gene	gene with protein product						12477932	Standard	NM_152396		Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000443029.1:c.38T>C	3.37:g.15467981A>G	ENSP00000407613:p.Ile13Thr					METTL6_ENST00000383789.5_Missense_Mutation_p.I13T|METTL6_ENST00000383790.3_Missense_Mutation_p.I13T|METTL6_ENST00000450816.2_Missense_Mutation_p.I13T	p.I13T			Q8TCB7	METL6_HUMAN			2	278	-			13					Q96LU4	Missense_Mutation	SNP	ENST00000443029.1	37	c.38T>C	CCDS43056.1	.	.	.	.	.	.	.	.	.	.	A	0.071	-1.202280	0.01581	.	.	ENSG00000206562	ENST00000383790;ENST00000450816;ENST00000383789	T;T;T	0.28895	1.99;1.59;1.99	5.39	-3.12	0.05282	.	0.921092	0.09340	N	0.815643	T	0.11965	0.0291	N	0.11870	0.19	0.09310	N	1	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.14023	0.001;0.01;0.001	T	0.34179	-0.9839	10	0.12430	T	0.62	-4.7922	3.242	0.06784	0.4764:0.1062:0.314:0.1034	.	13;13;13	B4DDX3;Q8TCB7-2;Q8TCB7	.;.;METL6_HUMAN	T	13	ENSP00000373300:I13T;ENSP00000410726:I13T;ENSP00000373299:I13T	ENSP00000373299:I13T	I	-	2	0	METTL6	15442985	0.021000	0.18746	0.001000	0.08648	0.021000	0.10359	0.462000	0.21956	-0.420000	0.07427	-0.451000	0.05528	ATT		0.408	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	NM_152396		5	123	0	0	0	1	0	5	123				
ZNF684	127396	broad.mit.edu	37	1	41012480	41012480	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:41012480G>A	ENST00000372699.3	+	5	736	c.485G>A	c.(484-486)aGt>aAt	p.S162N	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	162					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(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			TATGAATGCAGTGAATGCGGG	0.308																																						ENST00000372699.3																			0				breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(484-486)aGt>aAt		zinc finger protein 684							39.0	42.0	41.0					1																	41012480		2202	4299	6501	SO:0001583	missense	127396				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:41012480G>A		CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"""Zinc fingers, C2H2-type"", ""-"""	28418	protein-coding gene	gene with protein product	"""hypothetical protein MGC27466"""					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.485G>A	1.37:g.41012480G>A	ENSP00000361784:p.Ser162Asn					ZNF684_ENST00000493756.1_3'UTR	p.S162N	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)		5	736	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	162					Q2NKY4	Missense_Mutation	SNP	ENST00000372699.3	37	c.485G>A	CCDS454.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.648581	0.00111	.	.	ENSG00000117010	ENST00000372699	T	0.07567	3.18	4.05	-8.1	0.01086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	2.403570	0.01851	N	0.035912	T	0.03827	0.0108	N	0.11255	0.115	0.19300	N	0.999976	B	0.02656	0.0	B	0.04013	0.001	T	0.33240	-0.9876	10	0.11794	T	0.64	.	8.1582	0.31183	0.5481:0.3001:0.1518:0.0	.	162	Q5T5D7	ZN684_HUMAN	N	162	ENSP00000361784:S162N	ENSP00000361784:S162N	S	+	2	0	ZNF684	40785067	0.000000	0.05858	0.002000	0.10522	0.091000	0.18340	-5.534000	0.00115	-2.317000	0.00644	-0.195000	0.12781	AGT		0.308	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019260.3	NM_152373		15	46	0	0	0	1	0	15	46				
SLC12A6	9990	broad.mit.edu	37	15	34529731	34529731	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:34529731T>C	ENST00000354181.3	-	22	3315	c.2823A>G	c.(2821-2823)atA>atG	p.I941M	SLC12A6_ENST00000558589.1_Missense_Mutation_p.I932M|SLC12A6_ENST00000558667.1_Missense_Mutation_p.I941M|SLC12A6_ENST00000560164.1_Missense_Mutation_p.I753M|SLC12A6_ENST00000451844.2_Missense_Mutation_p.I753M|SLC12A6_ENST00000290209.5_Missense_Mutation_p.I890M|SLC12A6_ENST00000397702.2_Missense_Mutation_p.I882M|SLC12A6_ENST00000458406.2_Missense_Mutation_p.I882M|SLC12A6_ENST00000560611.1_Missense_Mutation_p.I941M|SLC12A6_ENST00000397707.2_Missense_Mutation_p.I926M			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	941					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TGAAGATCCGTATGCTGCACT	0.433																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(2821-2823)atA>atG		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						282.0	217.0	239.0					15																	34529731		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34529731T>C	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2823A>G	15.37:g.34529731T>C	ENSP00000346112:p.Ile941Met					SLC12A6_ENST00000397702.2_Missense_Mutation_p.I882M|SLC12A6_ENST00000458406.2_Missense_Mutation_p.I882M|SLC12A6_ENST00000290209.5_Missense_Mutation_p.I890M|SLC12A6_ENST00000397707.2_Missense_Mutation_p.I926M|SLC12A6_ENST00000558589.1_Missense_Mutation_p.I932M|SLC12A6_ENST00000451844.2_Missense_Mutation_p.I753M|SLC12A6_ENST00000560611.1_Missense_Mutation_p.I941M|SLC12A6_ENST00000560164.1_Missense_Mutation_p.I753M|SLC12A6_ENST00000558667.1_Missense_Mutation_p.I941M	p.I941M			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	22	3315	-		all_lung(180;2.78e-08)	941					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.2823A>G	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	T	3.402	-0.121983	0.06795	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39	5.12	-0.393	0.12438	.	0.043309	0.85682	D	0.000000	T	0.51856	0.1699	N	0.00260	-1.75	0.38713	D	0.95325	B;B;B;B	0.15473	0.007;0.013;0.005;0.0	B;B;B;B	0.12156	0.003;0.007;0.002;0.005	T	0.56226	-0.8014	10	0.02654	T	1	.	1.8959	0.03257	0.2402:0.0877:0.4:0.2721	.	926;941;890;753	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	M	890;926;932;882;882;753	ENSP00000290209:I890M;ENSP00000380819:I926M;ENSP00000380814:I882M;ENSP00000387725:I882M;ENSP00000390199:I753M	ENSP00000290209:I890M	I	-	3	3	SLC12A6	32317023	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.817000	0.27281	0.045000	0.15804	0.460000	0.39030	ATA		0.433	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		10	75	0	0	0	1	0	10	75				
KDM2A	22992	broad.mit.edu	37	11	66986772	66986772	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:66986772T>C	ENST00000529006.2	+	10	1301	c.855T>C	c.(853-855)gcT>gcC	p.A285A	snoU13_ENST00000459034.1_RNA|KDM2A_ENST00000398645.2_Silent_p.A285A|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	285	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GGATTCATGCTGTGTATACTC	0.428																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(853-855)gcT>gcC		lysine (K)-specific demethylase 2A							63.0	65.0	64.0					11																	66986772		1957	4144	6101	SO:0001819	synonymous_variant	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66986772T>C	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.855T>C	11.37:g.66986772T>C						KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Silent_p.A285A	p.A285A	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			10	1301	+			285			JmjC.		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	ENST00000529006.2	37	c.855T>C	CCDS44657.1																																																																																				0.428	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		8	28	0	0	0	1	0	8	28				
GABARAPL2	11345	broad.mit.edu	37	16	75602095	75602095	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:75602095T>C	ENST00000037243.2	+	3	387	c.251T>C	c.(250-252)gTc>gCc	p.V84A	RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000565057.1_Missense_Mutation_p.V84A|GABARAPL2_ENST00000563744.1_Intron|GABARAPL2_ENST00000568455.1_Missense_Mutation_p.V24A	NM_007285.6	NP_009216.1	P60520	GBRL2_HUMAN	GABA(A) receptor-associated protein-like 2	84					autophagy (GO:0006914)|intra-Golgi vesicle-mediated transport (GO:0006891)|negative regulation of proteasomal protein catabolic process (GO:1901799)|positive regulation of ATPase activity (GO:0032781)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular (GO:0005622)	ATPase binding (GO:0051117)|beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)|microtubule binding (GO:0008017)|SNARE binding (GO:0000149)			lung(1)|ovary(1)	2						GATAAGACAGTCCCACAGTCC	0.463																																						ENST00000037243.2																			0				lung(1)|ovary(1)	2						c.(250-252)gTc>gCc		GABA(A) receptor-associated protein-like 2							156.0	137.0	143.0					16																	75602095		2198	4300	6498	SO:0001583	missense	11345				autophagy|intra-Golgi vesicle-mediated transport|positive regulation of ATPase activity|protein transport	autophagic vacuole membrane|cytosol|Golgi membrane|membrane fraction	ATPase binding|beta-tubulin binding|GABA receptor binding|microtubule binding|SNARE binding	g.chr16:75602095T>C	AF087848	CCDS10921.1	16q22.1	2014-02-12			ENSG00000034713	ENSG00000034713			13291	protein-coding gene	gene with protein product		607452				11414770	Standard	NM_007285		Approved	GEF2, ATG8, GATE16, GATE-16, ATG8C	uc002fen.3	P60520	OTTHUMG00000137613	ENST00000037243.2:c.251T>C	16.37:g.75602095T>C	ENSP00000037243:p.Val84Ala					GABARAPL2_ENST00000565057.1_Missense_Mutation_p.V84A|RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000568455.1_Missense_Mutation_p.V24A|GABARAPL2_ENST00000563744.1_Intron	p.V84A	NM_007285.6	NP_009216.1	P60520	GBRL2_HUMAN			3	387	+			84					O08765|Q6FG91|Q9DCP8|Q9UQF7	Missense_Mutation	SNP	ENST00000037243.2	37	c.251T>C	CCDS10921.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923719	0.73213	.	.	ENSG00000034713	ENST00000037243	T	0.47528	0.84	5.56	5.56	0.83823	.	0.055987	0.64402	D	0.000001	T	0.49201	0.1543	L	0.48642	1.525	0.80722	D	1	B	0.15719	0.014	B	0.34138	0.176	T	0.50541	-0.8816	10	0.87932	D	0	-19.6613	14.5503	0.68061	0.0:0.0:0.0:1.0	.	84	P60520	GBRL2_HUMAN	A	84	ENSP00000037243:V84A	ENSP00000037243:V84A	V	+	2	0	GABARAPL2	74159596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.015000	0.88690	2.127000	0.65507	0.533000	0.62120	GTC		0.463	GABARAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269029.1	NM_007285		40	113	0	0	0	1	0	40	113				
ATP10A	57194	broad.mit.edu	37	15	25981276	25981276	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:25981276T>C	ENST00000356865.6	-	3	778	c.667A>G	c.(667-669)Aat>Gat	p.N223D	RNA5SP390_ENST00000410191.1_RNA	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	223					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTCAAAGGATTGAATTCGGAG	0.527																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(667-669)Aat>Gat		ATPase, class V, type 10A							122.0	86.0	98.0					15																	25981276		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25981276T>C	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.667A>G	15.37:g.25981276T>C	ENSP00000349325:p.Asn223Asp						p.N223D	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	3	778	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	223					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.667A>G	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	T	3.101	-0.184764	0.06340	.	.	ENSG00000206190	ENST00000356865	T	0.74526	-0.85	6.07	3.79	0.43588	ATPase, P-type, ATPase-associated domain (1);	0.147058	0.64402	N	0.000016	T	0.35335	0.0928	N	0.00661	-1.28	0.32199	N	0.578113	B	0.02656	0.0	B	0.06405	0.002	T	0.43196	-0.9406	10	0.02654	T	1	-20.2119	7.5685	0.27894	0.0:0.3052:0.0:0.6948	.	223	O60312	AT10A_HUMAN	D	223	ENSP00000349325:N223D	ENSP00000349325:N223D	N	-	1	0	ATP10A	23532369	1.000000	0.71417	0.981000	0.43875	0.586000	0.36452	4.705000	0.61838	0.547000	0.28938	0.533000	0.62120	AAT		0.527	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		5	26	0	0	0	1	0	5	26				
EGLN2	112398	broad.mit.edu	37	19	41307039	41307039	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41307039T>C	ENST00000593726.1	+	1	1590	c.562T>C	c.(562-564)Tac>Cac	p.Y188H	EGLN2_ENST00000594140.1_5'Flank|EGLN2_ENST00000303961.4_Missense_Mutation_p.Y188H|CTC-490E21.12_ENST00000601627.1_5'Flank|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Missense_Mutation_p.Y188H			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	188					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	CTGCATGCGGTACTACGGCAT	0.687																																						ENST00000593726.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(562-564)Tac>Cac		egl-9 family hypoxia-inducible factor 2	Vitamin C(DB00126)						80.0	86.0	84.0					19																	41307039		2203	4299	6502	SO:0001583	missense	112398				cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity	g.chr19:41307039T>C	AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 1"""	606424	"""EGL nine (C.elegans) homolog 2"", ""egl nine homolog 2 (C. elegans)"""				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.562T>C	19.37:g.41307039T>C	ENSP00000469686:p.Tyr188His					EGLN2_ENST00000406058.2_Missense_Mutation_p.Y188H|EGLN2_ENST00000303961.4_Missense_Mutation_p.Y188H|RAB4B-EGLN2_ENST00000594136.1_3'UTR	p.Y188H			Q96KS0	EGLN2_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	1590	+			188					A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	ENST00000593726.1	37	c.562T>C	CCDS12567.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.992197	0.54041	.	.	ENSG00000171570	ENST00000303961;ENST00000406058	T;T	0.25749	1.78;1.78	4.16	4.16	0.48862	.	0.158171	0.43747	D	0.000535	T	0.21145	0.0509	L	0.36672	1.1	0.35679	D	0.813899	B	0.16802	0.019	B	0.17098	0.017	T	0.16129	-1.0413	10	0.39692	T	0.17	-4.5123	12.6189	0.56592	0.0:0.0:0.0:1.0	.	188	Q96KS0	EGLN2_HUMAN	H	188	ENSP00000307080:Y188H;ENSP00000385253:Y188H	ENSP00000307080:Y188H	Y	+	1	0	EGLN2	45998879	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	1.178000	0.31981	1.882000	0.54519	0.482000	0.46254	TAC		0.687	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			57	216	0	0	0	1	0	57	216				
IRX1	79192	broad.mit.edu	37	5	3601144	3601144	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:3601144C>T	ENST00000302006.3	+	4	1485	c.1433C>T	c.(1432-1434)cCg>cTg	p.P478L	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	478					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCAGCCCTCCCGTCCGCCTGA	0.587																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1432-1434)cCg>cTg		iroquois homeobox 1																																				SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3601144C>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1433C>T	5.37:g.3601144C>T	ENSP00000305244:p.Pro478Leu						p.P478L	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			4	1485	+			478					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.1433C>T	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631400	0.28978	.	.	ENSG00000170549	ENST00000302006	T	0.58797	0.31	4.9	4.03	0.46877	.	0.134719	0.50627	U	0.000101	T	0.51890	0.1701	L	0.51422	1.61	0.52501	D	0.99995	B	0.09022	0.002	B	0.08055	0.003	T	0.51748	-0.8666	10	0.62326	D	0.03	.	13.1268	0.59360	0.0:0.9221:0.0:0.0779	.	478	P78414	IRX1_HUMAN	L	478	ENSP00000305244:P478L	ENSP00000305244:P478L	P	+	2	0	IRX1	3654144	1.000000	0.71417	0.997000	0.53966	0.846000	0.48090	6.137000	0.71710	1.058000	0.40530	-0.136000	0.14681	CCG		0.587	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		18	56	0	0	0	1	0	18	56				
PARD3B	117583	broad.mit.edu	37	2	205978293	205978293	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:205978293G>A	ENST00000406610.2	+	6	879	c.672G>A	c.(670-672)ctG>ctA	p.L224L	PARD3B_ENST00000351153.1_Silent_p.L224L|PARD3B_ENST00000358768.2_Silent_p.L224L|PARD3B_ENST00000462231.1_Silent_p.L224L|PARD3B_ENST00000349953.3_Silent_p.L224L	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	224	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTTCATCTCTGAGTGGAAGGT	0.408																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(670-672)ctG>ctA		par-3 family cell polarity regulator beta							116.0	107.0	110.0					2																	205978293		1848	4085	5933	SO:0001819	synonymous_variant	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205978293G>A	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.672G>A	2.37:g.205978293G>A						PARD3B_ENST00000358768.2_Silent_p.L224L|PARD3B_ENST00000462231.1_Silent_p.L224L|PARD3B_ENST00000349953.3_Silent_p.L224L|PARD3B_ENST00000351153.1_Silent_p.L224L	p.L224L	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	6	879	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	224			PDZ 1.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37	c.672G>A																																																																																					0.408	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		8	20	0	0	0	1	0	8	20				
TENM2	57451	broad.mit.edu	37	5	167379617	167379617	+	Missense_Mutation	SNP	C	C	T	rs535674876		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:167379617C>T	ENST00000518659.1	+	4	776	c.737C>T	c.(736-738)tCg>tTg	p.S246L	TENM2_ENST00000519204.1_Missense_Mutation_p.S125L|TENM2_ENST00000520394.1_Missense_Mutation_p.S55L|TENM2_ENST00000403607.2_Missense_Mutation_p.S79L|CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000520393.1_3'UTR|TENM2_ENST00000545108.1_Missense_Mutation_p.S246L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	246	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CACAGCCAGTCGACTCTGAGG	0.567																																						ENST00000519204.1																			0											c.(373-375)tCg>tTg		teneurin transmembrane protein 2							73.0	84.0	80.0					5																	167379617		2133	4242	6375	SO:0001583	missense	57451							g.chr5:167379617C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.737C>T	5.37:g.167379617C>T	ENSP00000429430:p.Ser246Leu					TENM2_ENST00000520394.1_Missense_Mutation_p.S55L|CTC-353G13.1_ENST00000523050.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.S79L|TENM2_ENST00000520393.1_3'UTR|TENM2_ENST00000518659.1_Missense_Mutation_p.S246L|TENM2_ENST00000545108.1_Missense_Mutation_p.S246L	p.S125L							3	492	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.374C>T		.	.	.	.	.	.	.	.	.	.	C	19.31	3.803444	0.70682	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	5.33	5.33	0.75918	Teneurin intracellular, N-terminal (2);	0.142961	0.48767	D	0.000168	T	0.49660	0.1570	L	0.29908	0.895	0.54753	D	0.999988	B;B;D	0.71674	0.344;0.296;0.998	B;B;D	0.72982	0.09;0.054;0.979	T	0.44667	-0.9313	10	0.41790	T	0.15	.	19.0113	0.92874	0.0:1.0:0.0:0.0	.	246;55;125	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	L	246;246;125;55;79	ENSP00000429430:S246L;ENSP00000438635:S246L;ENSP00000428964:S125L;ENSP00000427874:S55L;ENSP00000384905:S79L	ENSP00000384905:S79L	S	+	2	0	ODZ2	167312195	1.000000	0.71417	0.999000	0.59377	0.758000	0.43043	7.487000	0.81328	2.497000	0.84241	0.563000	0.77884	TCG		0.567	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		5	30	0	0	0	1	0	5	30				
PPP1R7	5510	broad.mit.edu	37	2	242105761	242105761	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:242105761C>T	ENST00000234038.6	+	8	1198	c.724C>T	c.(724-726)Ctg>Ttg	p.L242L	PPP1R7_ENST00000272983.8_Silent_p.L199L|PPP1R7_ENST00000402734.1_Silent_p.L183L|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000401987.1_Silent_p.L199L|PPP1R7_ENST00000407025.1_Silent_p.L242L|PPP1R7_ENST00000404405.3_Silent_p.L236L|PPP1R7_ENST00000406106.3_Silent_p.L242L	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	242					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		GAGCAACCGGCTGACCAAGAT	0.498																																					NSCLC(62;446 1299 5417 11238 27640)	ENST00000234038.6																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23						c.(724-726)Ctg>Ttg		protein phosphatase 1, regulatory subunit 7							79.0	66.0	71.0					2																	242105761		2203	4300	6503	SO:0001819	synonymous_variant	5510					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	g.chr2:242105761C>T	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.724C>T	2.37:g.242105761C>T						PPP1R7_ENST00000407025.1_Silent_p.L242L|PPP1R7_ENST00000272983.8_Silent_p.L199L|PPP1R7_ENST00000406106.3_Silent_p.L242L|PPP1R7_ENST00000404405.3_Silent_p.L236L|PPP1R7_ENST00000402734.1_Silent_p.L183L|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000401987.1_Silent_p.L199L	p.L242L	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	8	1198	+		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	242					B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Silent	SNP	ENST00000234038.6	37	c.724C>T	CCDS2546.1																																																																																				0.498	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		9	31	0	0	0	1	0	9	31				
CEP250	11190	broad.mit.edu	37	20	34096009	34096009	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:34096009C>T	ENST00000397527.1	+	32	7616	c.6896C>T	c.(6895-6897)aCc>aTc	p.T2299I	CEP250_ENST00000342580.4_Missense_Mutation_p.T2243I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2299					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTGCGGAGTACCTTGGAGCAG	0.572																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(6895-6897)aCc>aTc		centrosomal protein 250kDa							114.0	112.0	113.0					20																	34096009		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34096009C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6896C>T	20.37:g.34096009C>T	ENSP00000380661:p.Thr2299Ile					CEP250_ENST00000342580.4_Missense_Mutation_p.T2243I	p.T2299I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		32	7616	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2299					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.6896C>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.597036	0.46318	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.50001	2.7;2.63;0.76	4.37	4.37	0.52481	.	0.118609	0.37715	N	0.001980	T	0.63450	0.2512	M	0.77103	2.36	0.28284	N	0.923863	D	0.55800	0.973	P	0.54270	0.747	T	0.64322	-0.6435	10	0.72032	D	0.01	.	16.7132	0.85391	0.0:1.0:0.0:0.0	.	2299	Q9BV73	CP250_HUMAN	I	2299;2243;787	ENSP00000380661:T2299I;ENSP00000341541:T2243I;ENSP00000395992:T787I	ENSP00000341541:T2243I	T	+	2	0	CEP250	33559423	0.567000	0.26626	0.997000	0.53966	0.064000	0.16182	4.749000	0.62155	2.275000	0.75901	0.455000	0.32223	ACC		0.572	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		46	138	0	0	0	1	0	46	138				
KIF27	55582	broad.mit.edu	37	9	86474116	86474116	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:86474116G>C	ENST00000297814.2	-	14	3248	c.3105C>G	c.(3103-3105)caC>caG	p.H1035Q	RP11-575L7.4_ENST00000590417.1_RNA|RP11-575L7.4_ENST00000608866.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.H938Q|RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.H969Q|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000592283.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1035					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CATCCACATTGTGTCTGCGTT	0.413																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(3103-3105)caC>caG		kinesin family member 27							228.0	196.0	207.0					9																	86474116		2202	4300	6502	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86474116G>C	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3105C>G	9.37:g.86474116G>C	ENSP00000297814:p.His1035Gln					RP11-575L7.4_ENST00000592283.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000590417.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.H938Q|KIF27_ENST00000413982.1_Missense_Mutation_p.H969Q|RP11-575L7.4_ENST00000586211.1_RNA	p.H1035Q	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			14	3248	-			1035					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.3105C>G	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	G	2.705	-0.270087	0.05716	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.40756	1.02;1.02;1.02	4.5	1.41	0.22369	.	0.314901	0.26116	N	0.026247	T	0.17109	0.0411	N	0.08118	0	0.22156	N	0.999325	B;B;B	0.21520	0.019;0.024;0.057	B;B;B	0.25291	0.043;0.059;0.019	T	0.18147	-1.0346	10	0.13470	T	0.59	.	4.0278	0.09695	0.3536:0.0:0.4786:0.1678	.	938;969;1035	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	Q	1035;969;938	ENSP00000297814:H1035Q;ENSP00000401688:H969Q;ENSP00000333928:H938Q	ENSP00000297814:H1035Q	H	-	3	2	KIF27	85663936	0.041000	0.20044	0.951000	0.38953	0.023000	0.10783	-0.353000	0.07691	0.522000	0.28464	0.491000	0.48974	CAC		0.413	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		28	128	0	0	0	1	0	28	128				
MTHFD1	4522	broad.mit.edu	37	14	64906957	64906957	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:64906957A>G	ENST00000545908.1	+	18	2185	c.1956A>G	c.(1954-1956)aaA>aaG	p.K652K	CTD-2555O16.2_ENST00000556640.1_RNA|CTD-2555O16.4_ENST00000609125.1_RNA|MTHFD1_ENST00000216605.8_Silent_p.K596K			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	596	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	CCAGTAAGAAAGGAGAGCCCG	0.512																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	ENST00000555709.1																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(1786-1788)aaA>aaG		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						63.0	56.0	58.0					14																	64906957		2203	4300	6503	SO:0001819	synonymous_variant	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64906957A>G	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.1956A>G	14.37:g.64906957A>G						MTHFD1_ENST00000545908.1_Silent_p.K652K|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000555252.1_Silent_p.K576K|MTHFD1_ENST00000216605.7_Silent_p.K652K	p.K596K	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	18	2175	+			596			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Silent	SNP	ENST00000545908.1	37	c.1788A>G																																																																																					0.512	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			17	47	0	0	0	1	0	17	47				
GPR98	84059	broad.mit.edu	37	5	89979645	89979645	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:89979645T>C	ENST00000405460.2	+	28	6003	c.5907T>C	c.(5905-5907)gtT>gtC	p.V1969V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1969	Calx-beta 14. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CGTTAACAGTTTTGGCTAGTG	0.408																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(5905-5907)gtT>gtC		G protein-coupled receptor 98							122.0	112.0	115.0					5																	89979645		1886	4115	6001	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89979645T>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5907T>C	5.37:g.89979645T>C							p.V1969V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	28	6003	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1969					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.5907T>C	CCDS47246.1																																																																																				0.408	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		13	18	0	0	0	1	0	13	18				
MUC5AC	4586	broad.mit.edu	37	11	1156656	1156656	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1156656T>A	ENST00000356191.2	+	10	665	c.665T>A	c.(664-666)cTc>cAc	p.L222H				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	223	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CGAGCTCCTCTCCCACAGTAA	0.617																																						ENST00000356191.2																			0				NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203						c.(664-666)cTc>cAc		mucin 5AC, oligomeric mucus/gel-forming							92.0	87.0	88.0					11																	1156656		875	1990	2865	SO:0001583	missense	4586							g.chr11:1156656T>A	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.665T>A	11.37:g.1156656T>A	ENSP00000348519:p.Leu222His						p.L222H						BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)	10	665	+		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.665T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	7.098|7.098	0.573607|0.573607	0.13623|0.13623	.|.	.|.	ENSG00000215182|ENSG00000215182	ENST00000356191|ENST00000534821	T|T	0.20598|0.18502	2.06|2.21	3.28|3.28	2.09|2.09	0.27110|0.27110	.|.	.|.	.|.	.|.	.|.	T|T	0.21062|0.21062	0.0507|0.0507	L|L	0.39633|0.39633	1.23|1.23	.|.	.|.	.|.	.|D	.|0.56287	.|0.975	.|P	.|0.57371	.|0.819	T|T	0.21415|0.21415	-1.0246|-1.0246	6|8	0.37606|0.25751	T|T	0.19|0.34	.|.	5.6214|5.6214	0.17459|0.17459	0.1701:0.0:0.1768:0.6531|0.1701:0.0:0.1768:0.6531	.|.	.|225	.|A7Y9J9	.|.	H|T	222|225	ENSP00000348519:L222H|ENSP00000435591:S225T	ENSP00000348519:L222H|ENSP00000435591:S225T	L|S	+|+	2|1	0|0	MUC5AC|MUC5AC	1146656|1146656	0.001000|0.001000	0.12720|0.12720	0.952000|0.952000	0.39060|0.39060	0.275000|0.275000	0.26752|0.26752	0.540000|0.540000	0.23191|0.23191	0.439000|0.439000	0.26476|0.26476	0.364000|0.364000	0.22116|0.22116	CTC|TCC		0.617	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		30	69	0	0	0	1	0	30	69				
LDHA	3939	broad.mit.edu	37	11	18428863	18428863	+	3'UTR	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18428863C>T	ENST00000422447.3	+	0	1307				LDHA_ENST00000227157.4_3'UTR|LDHA_ENST00000540430.1_3'UTR|AC084117.3_ENST00000496975.2_RNA|LDHA_ENST00000396222.2_Silent_p.G255G|LDHA_ENST00000379412.5_3'UTR|LDHA_ENST00000430553.2_3'UTR	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A						cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						ACTGTCTAGGCTACAACAGGA	0.398																																						ENST00000396222.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						c.(763-765)ggC>ggT		lactate dehydrogenase A	NADH(DB00157)						68.0	63.0	65.0					11																	18428863		2195	4290	6485	SO:0001624	3_prime_UTR_variant	3939				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding	g.chr11:18428863C>T	X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.*35C>T	11.37:g.18428863C>T						LDHA_ENST00000379412.5_3'UTR|LDHA_ENST00000540430.1_3'UTR|LDHA_ENST00000430553.2_3'UTR|LDHA_ENST00000422447.3_3'UTR|LDHA_ENST00000227157.4_3'UTR	p.G255G	NM_001165415.1	NP_001158887.1	P00338	LDHA_HUMAN			7	864	+			0					B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Silent	SNP	ENST00000422447.3	37	c.765C>T	CCDS7839.1																																																																																				0.398	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566		10	48	0	0	0	1	0	10	48				
ATAD3C	219293	broad.mit.edu	37	1	1403878	1403878	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:1403878C>T	ENST00000378785.2	+	12	2199	c.1204C>T	c.(1204-1206)Cct>Tct	p.P402S		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	402							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGGGAGAGGCCTGGGCCCGA	0.672																																						ENST00000378785.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7						c.(1204-1206)Cct>Tct		ATPase family, AAA domain containing 3C							26.0	29.0	28.0					1																	1403878		2203	4295	6498	SO:0001583	missense	219293						ATP binding|nucleoside-triphosphatase activity	g.chr1:1403878C>T	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"""ATPases / AAA-type"""	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.1204C>T	1.37:g.1403878C>T	ENSP00000368062:p.Pro402Ser						p.P402S	NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	12	2199	+	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	402					Q8N1Z5	Missense_Mutation	SNP	ENST00000378785.2	37	c.1204C>T	CCDS44039.1	.	.	.	.	.	.	.	.	.	.	.	0.113	-1.135187	0.01742	.	.	ENSG00000215915	ENST00000378785	D	0.93953	-3.32	1.29	-1.19	0.09585	.	.	.	.	.	D	0.84047	0.5386	L	0.29908	0.895	0.09310	N	1	B	0.15719	0.014	B	0.09377	0.004	T	0.68345	-0.5433	9	0.27082	T	0.32	.	0.4789	0.00544	0.2444:0.3231:0.2424:0.1901	.	402	Q5T2N8	ATD3C_HUMAN	S	402	ENSP00000368062:P402S	ENSP00000368062:P402S	P	+	1	0	ATAD3C	1393741	0.172000	0.23043	0.000000	0.03702	0.026000	0.11368	0.878000	0.28126	-0.349000	0.08274	0.194000	0.17425	CCT		0.672	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211		8	34	0	0	0	1	0	8	34				
HIPK1	204851	broad.mit.edu	37	1	114484037	114484037	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:114484037T>C	ENST00000369558.1	+	2	1264	c.1032T>C	c.(1030-1032)gtT>gtC	p.V344V	HIPK1_ENST00000369559.4_Silent_p.V344V|HIPK1_ENST00000369554.2_Silent_p.V344V|HIPK1_ENST00000369561.4_Silent_p.V344V|HIPK1_ENST00000369555.2_Silent_p.V344V|HIPK1_ENST00000426820.2_Silent_p.V344V			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	344	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTAGTCACGTTTCCAAAGCTG	0.453																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(1030-1032)gtT>gtC		homeodomain interacting protein kinase 1							157.0	149.0	151.0					1																	114484037		2203	4300	6503	SO:0001819	synonymous_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114484037T>C	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.1032T>C	1.37:g.114484037T>C						HIPK1_ENST00000369554.2_Silent_p.V344V|HIPK1_ENST00000369555.2_Silent_p.V344V|HIPK1_ENST00000369561.4_Silent_p.V344V|HIPK1_ENST00000369559.4_Silent_p.V344V|HIPK1_ENST00000426820.2_Silent_p.V344V	p.V344V			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	1264	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	344			Protein kinase.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	c.1032T>C	CCDS867.1																																																																																				0.453	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		54	161	0	0	0	1	0	54	161				
BEST3	144453	broad.mit.edu	37	12	70049492	70049492	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:70049492G>A	ENST00000330891.5	-	10	1428	c.1202C>T	c.(1201-1203)gCc>gTc	p.A401V	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.A188V|BEST3_ENST00000553096.1_Missense_Mutation_p.A295V	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	401					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.A188V(1)|p.A401V(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTGTTCGTGGGCACTCAGGAA	0.562																																						ENST00000330891.5																			2	Substitution - Missense(2)	p.A188V(1)|p.A401V(1)	lung(2)	cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1201-1203)gCc>gTc		bestrophin 3							110.0	118.0	116.0					12																	70049492		2109	4223	6332	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049492G>A	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1202C>T	12.37:g.70049492G>A	ENSP00000332413:p.Ala401Val					BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.A295V|BEST3_ENST00000488961.1_Missense_Mutation_p.A188V	p.A401V	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1428	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		401					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.1202C>T	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	6.608	0.480639	0.12581	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97505	-3.93;-4.41;-4.33	5.63	4.63	0.57726	.	0.817584	0.11265	N	0.582116	D	0.88941	0.6574	N	0.05230	-0.09	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.82032	-0.0658	10	0.07813	T	0.8	-4.0135	4.625	0.12474	0.2314:0.0:0.7686:0.0	.	401;188	Q8N1M1;B5MDI8	BEST3_HUMAN;.	V	188;401;295	ENSP00000433213:A188V;ENSP00000332413:A401V;ENSP00000449548:A295V	ENSP00000332413:A401V	A	-	2	0	BEST3	68335759	1.000000	0.71417	0.864000	0.33941	0.836000	0.47400	4.280000	0.58959	2.636000	0.89361	0.655000	0.94253	GCC		0.562	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		45	212	0	0	0	1	0	45	212				
GNAT3	346562	broad.mit.edu	37	7	80091946	80091946	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:80091946T>C	ENST00000398291.3	-	6	685	c.592A>G	c.(592-594)Atg>Gtg	p.M198V	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	198					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						ACATCAAACATCCTTTAAGAA	0.358																																						ENST00000398291.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.e6-1		guanine nucleotide binding protein, alpha transducing 3							82.0	77.0	79.0					7																	80091946		1984	4216	6200	SO:0001630	splice_region_variant	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80091946T>C		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.591-1A>G	7.37:g.80091946T>C						CD36_ENST00000435819.1_Intron	p.M198_splice	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN			6	685	-			198					A4D1B2|A4D1B3|B9EJG5	Splice_Site	SNP	ENST00000398291.3	37	c.590_splice	CCDS47625.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.302436	0.81136	.	.	ENSG00000214415	ENST00000398291	D	0.87809	-2.3	5.3	5.3	0.74995	.	0.000000	0.85682	U	0.000000	D	0.91626	0.7354	M	0.75150	2.29	0.80722	D	1	D	0.62365	0.991	P	0.58266	0.836	D	0.91752	0.5413	9	.	.	.	.	15.5471	0.76112	0.0:0.0:0.0:1.0	.	198	A8MTJ3	GNAT3_HUMAN	V	198	ENSP00000381339:M198V	.	M	-	1	0	GNAT3	79929882	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.040000	0.89188	2.123000	0.65237	0.533000	0.62120	ATG		0.358	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370	Missense_Mutation	10	40	0	0	0	1	0	10	40				
MUC13	56667	broad.mit.edu	37	3	124646509	124646509	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:124646509A>G	ENST00000311075.3	-	2	419	c.381T>C	c.(379-381)gaT>gaC	p.D127D	MUC13_ENST00000497378.1_5'Flank	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	128	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TGATTAATCCATCATTTGGAG	0.438																																						ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(379-381)gaT>gaC		mucin 13, cell surface associated							247.0	232.0	237.0					3																	124646509		2203	4300	6503	SO:0001819	synonymous_variant	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124646509A>G	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.381T>C	3.37:g.124646509A>G							p.D127D	NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN			2	419	-			127			Thr-rich.		Q6UWD9|Q9NXT5	Silent	SNP	ENST00000311075.3	37	c.381T>C																																																																																					0.438	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		75	222	0	0	0	1	0	75	222				
TTN	7273	broad.mit.edu	37	2	179605944	179605944	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179605944T>C	ENST00000591111.1	-	46	11289	c.11065A>G	c.(11065-11067)Agt>Ggt	p.S3689G	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S4006G|TTN_ENST00000359218.5_Missense_Mutation_p.S3768G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S3835G|TTN_ENST00000460472.2_Missense_Mutation_p.S3643G|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13991	Ig-like 22.				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)			TAGAGGCCACTGTCTTCCCTC	0.453																																						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.(12016-12018)Agt>Ggt		titin							69.0	70.0	70.0					2																	179605944		1917	4131	6048	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605944T>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.11065A>G	2.37:g.179605944T>C	ENSP00000465570:p.Ser3689Gly					TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S3643G|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S3689G|TTN_ENST00000359218.5_Missense_Mutation_p.S3768G|TTN_ENST00000342175.6_Missense_Mutation_p.S3835G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA	p.S4006G	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)		48	12240	-			3689					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.12016A>G		.	.	.	.	.	.	.	.	.	.	T	3.886	-0.024879	0.07589	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.69175	-0.38;-0.38;-0.38	5.87	0.855	0.19013	.	.	.	.	.	T	0.55146	0.1902	L	0.50919	1.6	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.51537	-0.8693	9	0.87932	D	0	.	3.7877	0.08707	0.3424:0.2563:0.0:0.4012	.	3643;3768;3835	D3DPF9;E7EQE6;E7ET18	.;.;.	G	3643;3835;3768;3643	ENSP00000434586:S3643G;ENSP00000340554:S3835G;ENSP00000352154:S3768G	ENSP00000340554:S3835G	S	-	1	0	TTN	179314189	0.762000	0.28451	0.317000	0.25265	0.126000	0.20510	0.758000	0.26447	0.191000	0.20236	0.533000	0.62120	AGT		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	93	0	0	0	1	0	38	93				
KCNK16	83795	broad.mit.edu	37	6	39284104	39284104	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:39284104T>C	ENST00000373229.5	-	5	789	c.776A>G	c.(775-777)cAc>cGc	p.H259R	KCNK17_ENST00000453413.2_5'Flank|KCNK16_ENST00000425054.2_Intron|KCNK17_ENST00000373231.4_5'Flank|KCNK16_ENST00000437525.2_Missense_Mutation_p.H259R|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000373227.4_Intron	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	259					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GCAGCATCTGTGCAGAAGCAG	0.637																																						ENST00000373229.5																			0				large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						c.(775-777)cAc>cGc		potassium channel, subfamily K, member 16							18.0	20.0	20.0					6																	39284104		2201	4299	6500	SO:0001583	missense	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39284104T>C	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.776A>G	6.37:g.39284104T>C	ENSP00000362326:p.His259Arg					KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000373227.4_Intron|KCNK16_ENST00000437525.2_Missense_Mutation_p.H259R|KCNK16_ENST00000425054.2_Intron	p.H259R	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN			5	789	-			259					B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	c.776A>G	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336569	0.60963	.	.	ENSG00000095981	ENST00000373229;ENST00000437525	T;T	0.16743	2.62;2.32	4.87	1.12	0.20585	.	.	.	.	.	T	0.02610	0.0079	L	0.32530	0.975	0.27205	N	0.960079	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47169	-0.9138	9	0.02654	T	1	.	8.3446	0.32266	0.0:0.2359:0.0:0.7641	.	259;259	B5TJL9;Q96T55	.;KCNKG_HUMAN	R	259	ENSP00000362326:H259R;ENSP00000415375:H259R	ENSP00000362326:H259R	H	-	2	0	KCNK16	39392082	0.900000	0.30661	0.998000	0.56505	0.967000	0.64934	0.685000	0.25378	0.022000	0.15160	0.379000	0.24179	CAC		0.637	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		7	23	0	0	0	1	0	7	23				
PDGFRL	5157	broad.mit.edu	37	8	17447030	17447030	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:17447030A>G	ENST00000541323.1	+	3	554	c.109A>G	c.(109-111)Aga>Gga	p.R37G	PDGFRL_ENST00000251630.6_Missense_Mutation_p.R37G|PDGFRL_ENST00000398074.3_Missense_Mutation_p.R37G	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	37					G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)	extracellular region (GO:0005576)	platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AGGAGAGAATAGAATCAAACC	0.433																																						ENST00000541323.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9						c.(109-111)Aga>Gga		platelet-derived growth factor receptor-like							143.0	143.0	143.0					8																	17447030		2203	4300	6503	SO:0001583	missense	5157					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity	g.chr8:17447030A>G	D37965	CCDS6003.1	8p22-p21.3	2013-01-29			ENSG00000104213	ENSG00000104213		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8805	protein-coding gene	gene with protein product		604584					Standard	NM_006207		Approved	PRLTS	uc003wxr.3	Q15198	OTTHUMG00000130818	ENST00000541323.1:c.109A>G	8.37:g.17447030A>G	ENSP00000444211:p.Arg37Gly					PDGFRL_ENST00000398074.3_Missense_Mutation_p.R37G|PDGFRL_ENST00000251630.6_Missense_Mutation_p.R37G	p.R37G	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN		Colorectal(111;0.0752)	3	554	+			37					A8K085|Q6FH04	Missense_Mutation	SNP	ENST00000541323.1	37	c.109A>G	CCDS6003.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.724129	0.48728	.	.	ENSG00000104213	ENST00000251630;ENST00000541323;ENST00000398074	T;T;T	0.36699	1.24;1.24;1.24	4.52	4.52	0.55395	.	0.240945	0.43416	D	0.000563	T	0.35998	0.0951	L	0.56769	1.78	0.41474	D	0.988124	B	0.31383	0.321	B	0.29267	0.1	T	0.36768	-0.9734	10	0.59425	D	0.04	4.5825	14.3118	0.66422	1.0:0.0:0.0:0.0	.	37	Q15198	PGFRL_HUMAN	G	37	ENSP00000251630:R37G;ENSP00000444211:R37G;ENSP00000381149:R37G	ENSP00000251630:R37G	R	+	1	2	PDGFRL	17491290	1.000000	0.71417	0.979000	0.43373	0.885000	0.51271	4.121000	0.57904	2.026000	0.59711	0.482000	0.46254	AGA		0.433	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253366.3	NM_006207		64	233	0	0	0	1	0	64	233				
PRG4	10216	broad.mit.edu	37	1	186277353	186277353	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:186277353T>C	ENST00000445192.2	+	7	2547	c.2502T>C	c.(2500-2502)ccT>ccC	p.P834P	PRG4_ENST00000367486.3_Silent_p.P791P|PRG4_ENST00000367485.4_Silent_p.P741P|PRG4_ENST00000367484.3_Silent_p.P363P|PRG4_ENST00000367483.4_Silent_p.P793P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	834	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCAAGGAGCCTGCACCCACTA	0.577																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2500-2502)ccT>ccC		proteoglycan 4							203.0	238.0	226.0					1																	186277353		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277353T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2502T>C	1.37:g.186277353T>C						PRG4_ENST00000367484.3_Silent_p.P363P|PRG4_ENST00000367483.4_Silent_p.P793P|PRG4_ENST00000367486.3_Silent_p.P791P|PRG4_ENST00000367485.4_Silent_p.P741P	p.P834P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2547	+			834			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2502T>C	CCDS1369.1																																																																																				0.577	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		90	302	0	0	0	1	0	90	302				
MLH1	4292	broad.mit.edu	37	3	37042542	37042542	+	Nonsense_Mutation	SNP	G	G	T	rs63750453		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:37042542G>T	ENST00000231790.2	+	3	520	c.304G>T	c.(304-306)Gag>Tag	p.E102*	MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000435176.1_Intron|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000458205.2_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	102			E -> K (in HNPCC2; unknown pathological significance). {ECO:0000269|PubMed:17510385}.		ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CTTTCGAGGTGAGGTAAGCTA	0.348		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000231790.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	"""D, Mis, N, F, S"""	E.coli MutL homolog gene			"""E, O"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		0				NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127	GRCh37	CM011409	MLH1	M		c.(304-306)Gag>Tag	Mismatch excision repair (MMR)	mutL homolog 1							122.0	121.0	122.0					3																	37042542		2203	4300	6503	SO:0001587	stop_gained	4292	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37042542G>T	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.304G>T	3.37:g.37042542G>T	ENSP00000231790:p.Glu102*					MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000435176.1_Intron|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000539477.1_5'UTR	p.E102*	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN			3	520	+			102		E -> K (in HNPCC2; uncertain pathogenicity).			B4DI13|B4DQ11|E9PCU2	Nonsense_Mutation	SNP	ENST00000231790.2	37	c.304G>T	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	G	35	5.419292	0.96092	.	.	ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.0814	19.0698	0.93127	0.0:0.0:1.0:0.0	.	.	.	.	X	102;68;68	.	ENSP00000231790:E102X	E	+	1	0	MLH1	37017546	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	8.827000	0.92041	2.802000	0.96397	0.655000	0.94253	GAG		0.348	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		35	28	1	0	6.53348e-20	1	6.88128e-20	35	28				
SAMD9L	219285	broad.mit.edu	37	7	92760603	92760603	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:92760603T>C	ENST00000318238.4	-	5	5898	c.4682A>G	c.(4681-4683)aAc>aGc	p.N1561S	SAMD9L_ENST00000437805.1_Missense_Mutation_p.N1561S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.N1561S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1561					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTTTCTATGTTCCTACCACT	0.363																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(4681-4683)aAc>aGc		sterile alpha motif domain containing 9-like							83.0	83.0	83.0					7																	92760603		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92760603T>C	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4682A>G	7.37:g.92760603T>C	ENSP00000326247:p.Asn1561Ser					SAMD9L_ENST00000411955.1_Missense_Mutation_p.N1561S|SAMD9L_ENST00000437805.1_Missense_Mutation_p.N1561S	p.N1561S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5898	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1561					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.4682A>G	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	T	9.814	1.184039	0.21870	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	T;T;T	0.17370	2.28;2.28;2.28	4.9	1.26	0.21427	.	0.321834	0.28135	N	0.016478	T	0.08802	0.0218	L	0.29908	0.895	0.32160	N	0.583112	B	0.12630	0.006	B	0.10450	0.005	T	0.39742	-0.9599	10	0.02654	T	1	-7.9561	7.6672	0.28439	0.0:0.4326:0.0:0.5674	.	1561	Q8IVG5	SAM9L_HUMAN	S	1561;1561;1561;383	ENSP00000326247:N1561S;ENSP00000405760:N1561S;ENSP00000408796:N1561S	ENSP00000326247:N1561S	N	-	2	0	SAMD9L	92598539	0.996000	0.38824	0.749000	0.31150	0.907000	0.53573	1.289000	0.33307	0.376000	0.24707	0.383000	0.25322	AAC		0.363	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		16	45	0	0	0	1	0	16	45				
TCEB3C	162699	broad.mit.edu	37	18	44555185	44555185	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:44555185C>T	ENST00000330682.2	-	1	1264	c.1029G>A	c.(1027-1029)cgG>cgA	p.R343R	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	343	Activation domain. {ECO:0000250}.|Interaction with elongin BC. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TCCTAGGCACCCGGAGGCACT	0.652																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(1027-1029)cgG>cgA		transcription elongation factor B polypeptide 3C (elongin A3)							39.0	39.0	39.0					18																	44555185		1648	3312	4960	SO:0001819	synonymous_variant	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555185C>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1029G>A	18.37:g.44555185C>T						KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.R343R	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN			1	1264	-			343			Activation domain (By similarity).|Interaction with elongin BC (By similarity).			Silent	SNP	ENST00000330682.2	37	c.1029G>A	CCDS11931.1																																																																																				0.652	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		25	783	0	0	0	1	0	25	783				
FERMT2	10979	broad.mit.edu	37	14	53348085	53348085	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:53348085T>C	ENST00000395631.2	-	5	845	c.629A>G	c.(628-630)gAc>gGc	p.D210G	FERMT2_ENST00000553373.1_Missense_Mutation_p.D210G|FERMT2_ENST00000399304.3_Missense_Mutation_p.D210G|FERMT2_ENST00000341590.3_Missense_Mutation_p.D210G|FERMT2_ENST00000343279.4_Missense_Mutation_p.D210G			Q96AC1	FERM2_HUMAN	fermitin family member 2	210	FERM.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CAAAGCACTGTCACCAAACCA	0.438																																						ENST00000395631.2																		ERO1L/FERMT2(2)	0				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(628-630)gAc>gGc		fermitin family member 2							178.0	171.0	173.0					14																	53348085		2203	4300	6503	SO:0001583	missense	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53348085T>C	Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.629A>G	14.37:g.53348085T>C	ENSP00000378993:p.Asp210Gly					FERMT2_ENST00000399304.3_Missense_Mutation_p.D210G|FERMT2_ENST00000553373.1_Missense_Mutation_p.D210G|FERMT2_ENST00000343279.4_Missense_Mutation_p.D210G|FERMT2_ENST00000341590.3_Missense_Mutation_p.D210G	p.D210G			Q96AC1	FERM2_HUMAN			5	845	-	Breast(41;0.0342)		210			FERM.		B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	ENST00000395631.2	37	c.629A>G	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.702068	0.68501	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304;ENST00000554288	T;T;T;T;T;T;T	0.51325	0.71;0.71;0.72;0.71;0.71;0.71;1.11	5.92	5.92	0.95590	FERM, N-terminal (1);Band 4.1 domain (1);	0.000000	0.85682	D	0.000000	T	0.50034	0.1592	L	0.47190	1.495	0.80722	D	1	B;B;B	0.28470	0.05;0.213;0.132	B;B;B	0.37943	0.099;0.261;0.159	T	0.48115	-0.9063	10	0.48119	T	0.1	.	16.3495	0.83197	0.0:0.0:0.0:1.0	.	210;210;210	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	G	210;210;163;210;210;210;105	ENSP00000378993:D210G;ENSP00000340391:D210G;ENSP00000450741:D163G;ENSP00000342858:D210G;ENSP00000451084:D210G;ENSP00000382243:D210G;ENSP00000451268:D105G	ENSP00000340391:D210G	D	-	2	0	FERMT2	52417835	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.261000	0.74972	0.482000	0.46254	GAC		0.438	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		4	213	0	0	0	1	0	4	213				
FJX1	24147	broad.mit.edu	37	11	35640687	35640687	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:35640687T>C	ENST00000317811.4	+	1	953	c.503T>C	c.(502-504)cTg>cCg	p.L168P		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	168					retina layer formation (GO:0010842)	extracellular space (GO:0005615)				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				TCCAACCGACTGGCCCGTTTT	0.726																																					Melanoma(161;10 2587 27165 47356)	ENST00000317811.4																			0				lung(1)|urinary_tract(1)	2						c.(502-504)cTg>cCg		four jointed box 1 (Drosophila)							6.0	7.0	6.0					11																	35640687		1592	3588	5180	SO:0001583	missense	24147					extracellular space		g.chr11:35640687T>C	AJ245599	CCDS44570.1	11p13	2012-05-18				ENSG00000179431			17166	protein-coding gene	gene with protein product	"""putative secreted ligand homologous to fjx1"""	612206				7647465, 10072791	Standard	NM_014344		Approved	FLJ22416, FLJ25593	uc001mwh.3	Q86VR8		ENST00000317811.4:c.503T>C	11.37:g.35640687T>C	ENSP00000400223:p.Leu168Pro						p.L168P	NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN			1	953	+	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)	168					B2RCA9|Q9UGK6	Missense_Mutation	SNP	ENST00000317811.4	37	c.503T>C	CCDS44570.1	.	.	.	.	.	.	.	.	.	.	T	19.44	3.828476	0.71258	.	.	ENSG00000179431	ENST00000317811	T	0.38240	1.15	4.24	4.24	0.50183	.	.	.	.	.	T	0.55986	0.1955	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.60434	-0.7264	9	0.87932	D	0	-4.7239	11.2995	0.49298	0.0:0.0:0.0:1.0	.	168	Q86VR8	FJX1_HUMAN	P	168	ENSP00000400223:L168P	ENSP00000400223:L168P	L	+	2	0	FJX1	35597263	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	4.301000	0.59086	1.546000	0.49388	0.379000	0.24179	CTG		0.726	FJX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389078.1	NM_014344		7	16	0	0	0	1	0	7	16				
EHMT1	79813	broad.mit.edu	37	9	140706049	140706049	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:140706049A>G	ENST00000460843.1	+	19	2876	c.2849A>G	c.(2848-2850)aAc>aGc	p.N950S		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	950					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCCCGGGAGAACCGCTACGAC	0.647																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2848-2850)aAc>aGc		euchromatic histone-lysine N-methyltransferase 1							67.0	56.0	60.0					9																	140706049		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140706049A>G	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2849A>G	9.37:g.140706049A>G	ENSP00000417980:p.Asn950Ser						p.N950S	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	19	2876	+	all_cancers(76;0.164)		950					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.2849A>G	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	A	12.43	1.934596	0.34189	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	T	0.65732	-0.17	5.06	5.06	0.68205	Ankyrin repeat-containing domain (4);	0.039937	0.85682	D	0.000000	T	0.48187	0.1486	L	0.28504	0.86	0.80722	D	1	B	0.18610	0.029	B	0.25759	0.063	T	0.41752	-0.9491	10	0.05959	T	0.93	.	15.1107	0.72355	1.0:0.0:0.0:0.0	.	950	Q9H9B1	EHMT1_HUMAN	S	919;950	ENSP00000417980:N950S	ENSP00000360453:N919S	N	+	2	0	EHMT1	139825870	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.401000	0.79962	2.016000	0.59253	0.533000	0.62120	AAC		0.647	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		17	66	0	0	0	1	0	17	66				
SYNPO2	171024	broad.mit.edu	37	4	119951959	119951959	+	Missense_Mutation	SNP	C	C	T	rs200716335		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:119951959C>T	ENST00000429713.2	+	4	2211	c.2029C>T	c.(2029-2031)Cca>Tca	p.P677S	SYNPO2_ENST00000434046.2_Missense_Mutation_p.P677S|SYNPO2_ENST00000307142.4_Missense_Mutation_p.P677S|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	677						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GATCTCAGTGCCAGCAAAAAG	0.517																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2029-2031)Cca>Tca		synaptopodin 2							79.0	86.0	84.0					4																	119951959		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119951959C>T	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2029C>T	4.37:g.119951959C>T	ENSP00000395143:p.Pro677Ser					SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P677S|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P677S	p.P677S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			4	2225	+			677					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.2029C>T	CCDS47129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.21|18.21	3.573830|3.573830	0.65765|0.65765	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000504178|ENST00000307142;ENST00000429713;ENST00000434046	.|T;T;T	.|0.21932	.|1.98;2.01;2.03	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	.|0.000000	.|0.64402	.|D	.|0.000008	T|T	0.47783|0.47783	0.1464|0.1464	M|M	0.71581|0.71581	2.175|2.175	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;0.999;0.997	T|T	0.40701|0.40701	-0.9549|-0.9549	5|9	.|.	.|.	.|.	-13.0755|-13.0755	18.6838|18.6838	0.91557|0.91557	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|677;677;677;677	.|B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.|.;.;.;SYNP2_HUMAN	V|S	628|677	.|ENSP00000306015:P677S;ENSP00000395143:P677S;ENSP00000390965:P677S	.|.	A|P	+|+	2|1	0|0	SYNPO2|SYNPO2	120171407|120171407	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.492000|0.492000	0.33523|0.33523	7.807000|7.807000	0.86032|0.86032	2.413000|2.413000	0.81919|0.81919	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.517	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			12	70	0	0	0	1	0	12	70				
RBM10	8241	broad.mit.edu	37	X	47034443	47034443	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:47034443C>T	ENST00000377604.3	+	6	1270	c.528C>T	c.(526-528)gtC>gtT	p.V176V	RBM10_ENST00000345781.6_Silent_p.V99V|RBM10_ENST00000329236.7_Silent_p.V99V	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	176	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TCGCCTTCGTCGAGTTTAGTC	0.552																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(526-528)gtC>gtT		RNA binding motif protein 10							92.0	77.0	82.0					X																	47034443		2203	4300	6503	SO:0001819	synonymous_variant	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47034443C>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.528C>T	X.37:g.47034443C>T						RBM10_ENST00000329236.7_Silent_p.V99V|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Silent_p.V99V	p.V176V	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			6	1270	+			176			RRM 1.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Silent	SNP	ENST00000377604.3	37	c.528C>T	CCDS14274.1																																																																																				0.552	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		30	39	0	0	0	1	0	30	39				
SSPO	23145	broad.mit.edu	37	7	149505380	149505380	+	RNA	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:149505380G>A	ENST00000378016.2	+	0	8938							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATGCACCTCGGAGCGCTGCCC	0.602																																						ENST00000378016.2																			0													SCO-spondin							104.0	110.0	108.0					7																	149505380		2022	4164	6186			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149505380G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149505380G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	8938	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.602	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				36	140	0	0	0	1	0	36	140				
ITGA11	22801	broad.mit.edu	37	15	68695275	68695275	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:68695275T>C	ENST00000315757.7	-	2	232	c.146A>G	c.(145-147)gAc>gGc	p.D49G	ITGA11_ENST00000423218.2_Missense_Mutation_p.D49G	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	49					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GCCACTGATGTCGTGCTGCTG	0.627																																						ENST00000423218.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(145-147)gAc>gGc		integrin, alpha 11	Tirofiban(DB00775)						47.0	53.0	51.0					15																	68695275		2091	4214	6305	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68695275T>C	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.146A>G	15.37:g.68695275T>C	ENSP00000327290:p.Asp49Gly					ITGA11_ENST00000315757.7_Missense_Mutation_p.D49G	p.D49G			Q9UKX5	ITA11_HUMAN			2	241	-			49					J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.146A>G	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.920607	0.33908	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	D;D	0.87491	-2.26;-2.26	5.11	5.11	0.69529	.	0.456004	0.23319	N	0.049464	T	0.79106	0.4390	N	0.19112	0.55	0.41247	D	0.986686	B;B	0.22683	0.073;0.054	B;B	0.23150	0.044;0.013	T	0.76231	-0.3035	10	0.48119	T	0.1	.	13.1507	0.59488	0.0:0.0:0.0:1.0	.	49;49	A8K8T0;Q9UKX5	.;ITA11_HUMAN	G	49	ENSP00000327290:D49G;ENSP00000403392:D49G	ENSP00000327290:D49G	D	-	2	0	ITGA11	66482329	0.983000	0.35010	0.976000	0.42696	0.491000	0.33493	3.544000	0.53640	2.043000	0.60533	0.383000	0.25322	GAC		0.627	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		10	15	0	0	0	1	0	10	15				
CCDC93	54520	broad.mit.edu	37	2	118698771	118698771	+	Missense_Mutation	SNP	G	G	A	rs148434878		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:118698771G>A	ENST00000376300.2	-	19	1653	c.1516C>T	c.(1516-1518)Cgc>Tgc	p.R506C	CCDC93_ENST00000319432.5_Missense_Mutation_p.R505C	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	506										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTACTCTGGCGGTAGAGTTCA	0.498																																						ENST00000376300.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(1516-1518)Cgc>Tgc		coiled-coil domain containing 93		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	118.0	107.0	111.0		1516	3.6	1.0	2	dbSNP_134	111	0,8600		0,0,4300	no	missense	CCDC93	NM_019044.4	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	506/632	118698771	2,13004	2203	4300	6503	SO:0001583	missense	54520							g.chr2:118698771G>A	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1516C>T	2.37:g.118698771G>A	ENSP00000365477:p.Arg506Cys					CCDC93_ENST00000319432.5_Missense_Mutation_p.R505C	p.R506C	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN			19	1653	-			506					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.1516C>T	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850550	0.71719	4.54E-4	0.0	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.64991	-0.13;-0.13	5.55	3.57	0.40892	.	0.187491	0.56097	D	0.000030	T	0.42988	0.1227	N	0.08118	0	0.44388	D	0.997297	D	0.61080	0.989	P	0.46452	0.517	T	0.46373	-0.9196	10	0.59425	D	0.04	-1.4672	7.8424	0.29406	0.0:0.2603:0.5112:0.2284	.	506	Q567U6	CCD93_HUMAN	C	506;505	ENSP00000365477:R506C;ENSP00000324135:R505C	ENSP00000324135:R505C	R	-	1	0	CCDC93	118415241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.849000	0.39318	1.545000	0.49373	0.655000	0.94253	CGC		0.498	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		17	55	0	0	0	1	0	17	55				
RNF148	378925	broad.mit.edu	37	7	122342612	122342612	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:122342612G>A	ENST00000434824.1	-	1	409	c.193C>T	c.(193-195)Cat>Tat	p.H65Y	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	65	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						AGAGGAGAATGATTCCCGAAC	0.473																																						ENST00000434824.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						c.(193-195)Cat>Tat		ring finger protein 148							128.0	117.0	120.0					7																	122342612		1961	4155	6116	SO:0001583	missense	378925					integral to membrane	zinc ion binding	g.chr7:122342612G>A	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.193C>T	7.37:g.122342612G>A	ENSP00000388207:p.His65Tyr					CADPS2_ENST00000449022.2_Intron|RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron	p.H65Y	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN			1	409	-			65			PA.		A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	c.193C>T	CCDS47692.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023481	0.35701	.	.	ENSG00000235631	ENST00000434824	T	0.04275	3.66	5.4	4.5	0.54988	.	.	.	.	.	T	0.07369	0.0186	L	0.58810	1.83	0.80722	D	1	P	0.46578	0.88	B	0.43575	0.424	T	0.25641	-1.0126	9	0.39692	T	0.17	.	9.0957	0.36638	0.0:0.1235:0.5939:0.2826	.	65	Q8N7C7	RN148_HUMAN	Y	65	ENSP00000388207:H65Y	ENSP00000388207:H65Y	H	-	1	0	RNF148	122129848	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.515000	0.53429	1.244000	0.43870	0.555000	0.69702	CAT		0.473	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		4	77	0	0	0	1	0	4	77				
SPEN	23013	broad.mit.edu	37	1	16256223	16256223	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:16256223T>A	ENST00000375759.3	+	11	3692	c.3488T>A	c.(3487-3489)aTc>aAc	p.I1163N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1163					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGCATTGACATCGATCACACG	0.398																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(3487-3489)aTc>aAc		spen family transcriptional repressor							50.0	45.0	47.0					1																	16256223		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16256223T>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3488T>A	1.37:g.16256223T>A	ENSP00000364912:p.Ile1163Asn						p.I1163N	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	3692	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1163					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.3488T>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.529418	0.44969	.	.	ENSG00000065526	ENST00000375759	T	0.10573	2.86	5.2	5.2	0.72013	.	.	.	.	.	T	0.31702	0.0805	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01940	-1.1243	9	0.56958	D	0.05	-28.0217	15.2199	0.73303	0.0:0.0:0.0:1.0	.	1163	Q96T58	MINT_HUMAN	N	1163	ENSP00000364912:I1163N	ENSP00000364912:I1163N	I	+	2	0	SPEN	16128810	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.666000	0.68059	2.184000	0.69523	0.528000	0.53228	ATC		0.398	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		7	47	0	0	0	1	0	7	47				
SHB	6461	broad.mit.edu	37	9	38016099	38016099	+	Silent	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:38016099G>T	ENST00000377707.3	-	2	1312	c.747C>A	c.(745-747)ccC>ccA	p.P249P	RP11-613M10.9_ENST00000540557.1_Silent_p.P249P|SHB_ENST00000377700.4_Silent_p.P249P	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	249	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TGGCATCAAAGGGATCTGAGT	0.507																																						ENST00000377707.3																			0				central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11						c.(745-747)ccC>ccA		Src homology 2 domain containing adaptor protein B							143.0	140.0	141.0					9																	38016099		1995	4181	6176	SO:0001819	synonymous_variant	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:38016099G>T		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.747C>A	9.37:g.38016099G>T						SHB_ENST00000377700.4_Silent_p.P249P|RP11-613M10.9_ENST00000540557.1_Silent_p.P249P	p.P249P	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	2	1312	-		all_epithelial(88;0.122)	249			Mediates interaction with LAT, FAK1, JAK1 and JAK3.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Silent	SNP	ENST00000377707.3	37	c.747C>A	CCDS43806.1																																																																																				0.507	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			42	109	1	0	1.59361e-14	1	1.66677e-14	42	109				
B3GALNT2	148789	broad.mit.edu	37	1	235618984	235618984	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:235618984T>C	ENST00000366600.3	-	9	1266	c.1038A>G	c.(1036-1038)acA>acG	p.T346T		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	346					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			TGAAGCTCGTTGTTTCCACAG	0.403																																						ENST00000366600.3																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1036-1038)acA>acG		beta-1,3-N-acetylgalactosaminyltransferase 2							97.0	84.0	88.0					1																	235618984		2203	4300	6503	SO:0001819	synonymous_variant	148789				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr1:235618984T>C	BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"""Beta 3-glycosyltransferases"""	28596	protein-coding gene	gene with protein product		610194	"""UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"""			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.1038A>G	1.37:g.235618984T>C							p.T346T	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000117)		9	1266	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	346					Q59GR3|Q5TCI3|Q96AL7	Silent	SNP	ENST00000366600.3	37	c.1038A>G	CCDS1606.1																																																																																				0.403	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490		12	39	0	0	0	1	0	12	39				
PGLYRP2	114770	broad.mit.edu	37	19	15586853	15586853	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:15586853A>G	ENST00000340880.4	-	2	1108	c.628T>C	c.(628-630)Tcc>Ccc	p.S210P	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.S210P	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	210					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GTCGGTGGGGACTTGGCTTTG	0.577																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(628-630)Tcc>Ccc		peptidoglycan recognition protein 2							153.0	135.0	141.0					19																	15586853		2203	4300	6503	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15586853A>G	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.628T>C	19.37:g.15586853A>G	ENSP00000345968:p.Ser210Pro					PGLYRP2_ENST00000340880.4_Missense_Mutation_p.S210P	p.S210P			Q96PD5	PGRP2_HUMAN			2	757	-			210					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.628T>C	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	A	9.899	1.206242	0.22205	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.05447	3.47;3.44	5.09	-1.42	0.08913	.	0.805115	0.10803	N	0.632461	T	0.06872	0.0175	M	0.66939	2.045	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.14023	0.01;0.002	T	0.41520	-0.9504	10	0.56958	D	0.05	-18.4503	0.9935	0.01462	0.4479:0.1112:0.1541:0.2868	.	210;210	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	P	210	ENSP00000345968:S210P;ENSP00000292609:S210P	ENSP00000292609:S210P	S	-	1	0	PGLYRP2	15447853	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.066000	0.14489	-1.371000	0.02141	-2.680000	0.00142	TCC		0.577	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		64	151	0	0	0	1	0	64	151				
CREBBP	1387	broad.mit.edu	37	16	3788663	3788663	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3788663T>C	ENST00000262367.5	-	26	5100	c.4291A>G	c.(4291-4293)Att>Gtt	p.I1431V	CREBBP_ENST00000382070.3_Missense_Mutation_p.I1393V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1431	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGATAAGAAATGTACACACGC	0.418			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4291-4293)Att>Gtt		CREB binding protein							61.0	52.0	55.0					16																	3788663		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3788663T>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4291A>G	16.37:g.3788663T>C	ENSP00000262367:p.Ile1431Val					CREBBP_ENST00000382070.3_Missense_Mutation_p.I1393V	p.I1431V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	26	5100	-		Ovarian(90;0.0266)	1431			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4291A>G	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	t	18.48	3.632546	0.67015	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.89939	-2.59;-2.59	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.91935	0.7446	L	0.41573	1.285	0.80722	D	1	P;P	0.41313	0.745;0.745	D;D	0.66196	0.942;0.942	D	0.91462	0.5190	10	0.42905	T	0.14	-29.4921	15.4904	0.75602	0.0:0.0:0.0:1.0	.	1461;1431	Q4LE28;Q92793	.;CBP_HUMAN	V	1431;1461;1393;20	ENSP00000262367:I1431V;ENSP00000371502:I1393V	ENSP00000262367:I1431V	I	-	1	0	CREBBP	3728664	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.975000	0.88055	2.131000	0.65755	0.459000	0.35465	ATT		0.418	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		12	25	0	0	0	1	0	12	25				
CCDC185	164127	broad.mit.edu	37	1	223568079	223568079	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:223568079A>G	ENST00000366875.3	+	1	1365	c.1262A>G	c.(1261-1263)gAc>gGc	p.D421G		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		421										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AAGGTCCAGGACACCAACCTG	0.612																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(1261-1263)gAc>gGc		chromosome 1 open reading frame 65							40.0	33.0	36.0					1																	223568079		2202	4298	6500	SO:0001583	missense	164127							g.chr1:223568079A>G																												ENST00000366875.3:c.1262A>G	1.37:g.223568079A>G	ENSP00000355840:p.Asp421Gly						p.D421G	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	1365	+			421					Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.1262A>G	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	A	8.595	0.885522	0.17540	.	.	ENSG00000178395	ENST00000366875	T	0.21543	2.0	5.41	2.93	0.34026	.	.	.	.	.	T	0.11452	0.0279	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32455	-0.9906	9	0.30854	T	0.27	.	6.7245	0.23348	0.7645:0.1529:0.0825:0.0	.	421	Q8N715	CA065_HUMAN	G	421	ENSP00000355840:D421G	ENSP00000355840:D421G	D	+	2	0	C1orf65	221634702	0.017000	0.18338	0.001000	0.08648	0.705000	0.40729	1.572000	0.36461	0.288000	0.22398	0.533000	0.62120	GAC		0.612	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			10	54	0	0	0	1	0	10	54				
SLC25A20	788	broad.mit.edu	37	3	48921521	48921521	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:48921521T>C	ENST00000319017.4	-	3	433	c.235A>G	c.(235-237)Atc>Gtc	p.I79V	SLC25A20_ENST00000430379.1_Intron|SLC25A20_ENST00000544097.1_Missense_Mutation_p.I29V	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	79					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	ACCCCGATGATAGGGGCAGCC	0.493																																						ENST00000319017.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13						c.(235-237)Atc>Gtc		solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	L-Carnitine(DB00583)						91.0	77.0	82.0					3																	48921521		2203	4300	6503	SO:0001583	missense	788				carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity	g.chr3:48921521T>C	Y10319	CCDS2779.1	3p21.31	2013-05-22			ENSG00000178537	ENSG00000178537		"""Solute carriers"""	1421	protein-coding gene	gene with protein product	"""carnitine-acylcarnitine carrier"", ""carnitine/acylcarnitine translocase"""	613698		CACT		9399886, 9533014	Standard	NM_000387		Approved	CAC	uc003cva.4	O43772	OTTHUMG00000133538	ENST00000319017.4:c.235A>G	3.37:g.48921521T>C	ENSP00000326305:p.Ile79Val					SLC25A20_ENST00000430379.1_Intron|SLC25A20_ENST00000544097.1_Missense_Mutation_p.I29V	p.I79V	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	433	-			79					B2R7F4|Q9UIQ2	Missense_Mutation	SNP	ENST00000319017.4	37	c.235A>G	CCDS2779.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.842008	0.51057	.	.	ENSG00000178537	ENST00000319017;ENST00000544097	T;T	0.78707	-1.2;-1.2	5.01	3.81	0.43845	Mitochondrial carrier domain (2);	0.090242	0.64402	D	0.000008	T	0.64046	0.2563	N	0.16368	0.405	0.58432	D	0.999999	B	0.22480	0.07	B	0.28553	0.091	T	0.60378	-0.7275	10	0.59425	D	0.04	-7.9314	10.278	0.43521	0.1484:0.0:0.0:0.8516	.	79	O43772	MCAT_HUMAN	V	79;29	ENSP00000326305:I79V;ENSP00000438731:I29V	ENSP00000326305:I79V	I	-	1	0	SLC25A20	48896525	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	1.854000	0.39368	0.817000	0.34445	0.477000	0.44152	ATC		0.493	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257516.2	NM_000387		15	60	0	0	0	1	0	15	60				
TRPM7	54822	broad.mit.edu	37	15	50868071	50868071	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:50868071T>C	ENST00000313478.7	-	32	4945	c.4664A>G	c.(4663-4665)tAt>tGt	p.Y1555C	TRPM7_ENST00000561443.1_5'UTR|TRPM7_ENST00000560955.1_Missense_Mutation_p.Y1554C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1555					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CTGACCTGAATAATAGTAATT	0.294																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(4663-4665)tAt>tGt		transient receptor potential cation channel, subfamily M, member 7							55.0	53.0	53.0					15																	50868071		1795	4054	5849	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50868071T>C	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.4664A>G	15.37:g.50868071T>C	ENSP00000320239:p.Tyr1555Cys					TRPM7_ENST00000560955.1_Missense_Mutation_p.Y1554C|TRPM7_ENST00000561443.1_5'UTR	p.Y1555C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	32	4945	-			1555					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.4664A>G	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227197	0.79576	.	.	ENSG00000092439	ENST00000313478	T	0.07021	3.23	5.9	5.9	0.94986	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.29556	0.0737	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.01048	-1.1469	10	0.87932	D	0	-11.3227	16.3245	0.82970	0.0:0.0:0.0:1.0	.	1555	Q96QT4	TRPM7_HUMAN	C	1555	ENSP00000320239:Y1555C	ENSP00000320239:Y1555C	Y	-	2	0	TRPM7	48655363	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.229000	0.65316	2.254000	0.74563	0.460000	0.39030	TAT		0.294	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		4	46	0	0	0	1	0	4	46				
GSK3B	2932	broad.mit.edu	37	3	119631553	119631553	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:119631553A>G	ENST00000264235.8	-	6	1695	c.713T>C	c.(712-714)aTa>aCa	p.I238T	GSK3B_ENST00000316626.5_Missense_Mutation_p.I238T	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	238	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)	p.I238T(2)		endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	GTACTTACCTATACTAGAGGT	0.358																																						ENST00000264235.8																			2	Substitution - Missense(2)	p.I238T(2)	large_intestine(2)	endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18						c.(712-714)aTa>aCa		glycogen synthase kinase 3 beta	Lithium(DB01356)						59.0	60.0	60.0					3																	119631553		2203	4299	6502	SO:0001583	missense	2932				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	g.chr3:119631553A>G	BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.713T>C	3.37:g.119631553A>G	ENSP00000264235:p.Ile238Thr					GSK3B_ENST00000316626.5_Missense_Mutation_p.I238T	p.I238T	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN		GBM - Glioblastoma multiforme(114;0.24)	6	1695	-			238			Protein kinase.		D3DN89|Q9BWH3|Q9UL47	Missense_Mutation	SNP	ENST00000264235.8	37	c.713T>C	CCDS54628.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.461375	0.84317	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	T;T	0.42513	0.97;0.97	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61324	0.2338	M	0.68593	2.085	0.80722	D	1	P;P	0.50943	0.94;0.926	D;P	0.63283	0.913;0.859	T	0.65047	-0.6263	10	0.87932	D	0	-11.6424	15.347	0.74346	1.0:0.0:0.0:0.0	.	238;238	P49841;P49841-2	GSK3B_HUMAN;.	T	238	ENSP00000264235:I238T;ENSP00000324806:I238T	ENSP00000264235:I238T	I	-	2	0	GSK3B	121114243	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.722000	0.91452	2.212000	0.71576	0.460000	0.39030	ATA		0.358	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2			8	24	0	0	0	1	0	8	24				
ZNF2	7549	broad.mit.edu	37	2	95847832	95847832	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:95847832A>G	ENST00000340539.5	+	5	1721	c.1259A>G	c.(1258-1260)tAc>tGc	p.Y420C	ZNF2_ENST00000425369.1_Missense_Mutation_p.Y340C|ZNF2_ENST00000453539.2_Missense_Mutation_p.Y433C|ZNF2_ENST00000295210.6_Missense_Mutation_p.Y382C|ZNF2_ENST00000398107.2_Missense_Mutation_p.Y378C	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	420					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CAACGGCGTTACGCCAAACAG	0.453																																						ENST00000398107.2																			0				endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12						c.(1132-1134)tAc>tGc		zinc finger protein 2							65.0	64.0	65.0					2																	95847832		1969	4181	6150	SO:0001583	missense	7549				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95847832A>G	X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.1259A>G	2.37:g.95847832A>G	ENSP00000345392:p.Tyr420Cys					ZNF2_ENST00000295210.6_Missense_Mutation_p.Y382C|ZNF2_ENST00000425369.1_Missense_Mutation_p.Y340C|ZNF2_ENST00000340539.5_Missense_Mutation_p.Y420C|ZNF2_ENST00000453539.2_Missense_Mutation_p.Y433C	p.Y378C	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN		READ - Rectum adenocarcinoma(193;0.0222)	4	1655	+		Ovarian(717;0.00768)	419					A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	ENST00000340539.5	37	c.1133A>G	CCDS42712.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.212161	0.39102	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	T;T;T;T;T	0.05996	3.36;3.52;3.4;3.49;3.49	5.06	5.06	0.68205	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40222	N	0.001150	T	0.12390	0.0301	N	0.19112	0.55	0.40532	D	0.98094	D;D;D	0.89917	0.999;0.998;1.0	D;P;D	0.78314	0.97;0.87;0.991	T	0.07328	-1.0778	10	0.87932	D	0	-26.1911	11.129	0.48336	1.0:0.0:0.0:0.0	.	382;378;419	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	C	378;420;340;382;433	ENSP00000381178:Y378C;ENSP00000345392:Y420C;ENSP00000406017:Y340C;ENSP00000295210:Y382C;ENSP00000411051:Y433C	ENSP00000295210:Y382C	Y	+	2	0	ZNF2	95211559	0.905000	0.30787	0.979000	0.43373	0.157000	0.22087	4.300000	0.59079	2.134000	0.65973	0.460000	0.39030	TAC		0.453	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088		27	85	0	0	0	1	0	27	85				
PCDHB10	56126	broad.mit.edu	37	5	140573811	140573811	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140573811G>A	ENST00000239446.4	+	1	1870	c.1686G>A	c.(1684-1686)ctG>ctA	p.L562L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	562					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTTCGTGCTGTACCCGCTGC	0.731																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1684-1686)ctG>ctA									11.0	16.0	14.0					5																	140573811		1810	3808	5618	SO:0001819	synonymous_variant	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573811G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1686G>A	5.37:g.140573811G>A							p.L562L	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1870	+			562					Q96T99	Silent	SNP	ENST00000239446.4	37	c.1686G>A	CCDS4252.1																																																																																				0.731	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		24	129	0	0	0	1	0	24	129				
TTN	7273	broad.mit.edu	37	2	179463272	179463272	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179463272G>A	ENST00000591111.1	-	242	52373	c.52149C>T	c.(52147-52149)atC>atT	p.I17383I	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.I16456I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.I19024I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.I10084I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.I10151I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.I9959I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17383	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATATTCAACGATGTATCCAG	0.378																																						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.(57070-57072)atC>atT		titin							95.0	90.0	91.0					2																	179463272		1828	4089	5917	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179463272G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52149C>T	2.37:g.179463272G>A						TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.I9959I|TTN_ENST00000342992.6_Silent_p.I16456I|TTN_ENST00000591111.1_Silent_p.I17383I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.I10084I|TTN_ENST00000342175.6_Silent_p.I10151I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.I19024I	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)		292	57296	-			17383					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	Silent	SNP	ENST00000591111.1	37	c.57072C>T																																																																																					0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	32	0	0	0	1	0	11	32				
INTS12	57117	broad.mit.edu	37	4	106604001	106604001	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:106604001G>A	ENST00000451321.2	-	7	1757	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	INTS12_ENST00000340139.5_Silent_p.S426S|INTS12_ENST00000394735.1_Silent_p.S426S	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	426	Ser-rich.				snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		CTGAGGGAGAGCTGCTGGATT	0.458																																						ENST00000451321.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(1276-1278)agC>agT		integrator complex subunit 12							221.0	216.0	217.0					4																	106604001		2203	4300	6503	SO:0001819	synonymous_variant	57117				snRNA processing	integrator complex	protein binding|zinc ion binding	g.chr4:106604001G>A		CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.1278C>T	4.37:g.106604001G>A						INTS12_ENST00000394735.1_Silent_p.S426S|INTS12_ENST00000340139.5_Silent_p.S426S	p.S426S	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	7	1757	-			426			Ser-rich.		B2RC48|Q3B6Z3|Q9HD71	Silent	SNP	ENST00000451321.2	37	c.1278C>T	CCDS3671.1																																																																																				0.458	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1	NM_020395		46	179	0	0	0	1	0	46	179				
TCERG1	10915	broad.mit.edu	37	5	145838686	145838686	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:145838686G>A	ENST00000296702.5	+	4	716	c.678G>A	c.(676-678)caG>caA	p.Q226Q	TCERG1_ENST00000394421.2_Silent_p.Q226Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	226	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			cccaagcccaggcccaggctc	0.701																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(676-678)caG>caA		transcription elongation regulator 1							18.0	23.0	21.0					5																	145838686		2202	4300	6502	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145838686G>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.678G>A	5.37:g.145838686G>A						TCERG1_ENST00000394421.2_Silent_p.Q226Q	p.Q226Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	716	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	226			Ala/Gln-rich.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.678G>A	CCDS4282.1																																																																																				0.701	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		17	41	0	0	0	1	0	17	41				
TGFBR3	7049	broad.mit.edu	37	1	92187562	92187562	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:92187562T>C	ENST00000525962.1	-	7	1086	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C	TGFBR3_ENST00000212355.4_Missense_Mutation_p.Y342C|TGFBR3_ENST00000370399.2_Missense_Mutation_p.Y342C			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	342					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGCCATTGTGTATGAAGTTAT	0.373																																						ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1024-1026)tAc>tGc		transforming growth factor, beta receptor III							119.0	105.0	110.0					1																	92187562		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92187562T>C	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1025A>G	1.37:g.92187562T>C	ENSP00000436127:p.Tyr342Cys					TGFBR3_ENST00000525962.1_Missense_Mutation_p.Y342C|TGFBR3_ENST00000370399.2_Missense_Mutation_p.Y342C	p.Y342C	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	8	1490	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	342					A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.1025A>G	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196142	0.78902	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.66046	0.2750	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.71321	-0.4628	10	0.87932	D	0	-18.221	15.6221	0.76813	0.0:0.0:0.0:1.0	.	342;342;342	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	C	342	ENSP00000212355:Y342C;ENSP00000359426:Y342C;ENSP00000436127:Y342C;ENSP00000432638:Y342C	ENSP00000212355:Y342C	Y	-	2	0	TGFBR3	91960150	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.913000	0.75759	2.166000	0.68216	0.459000	0.35465	TAC		0.373	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		13	43	0	0	0	1	0	13	43				
COPS3	8533	broad.mit.edu	37	17	17150805	17150805	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:17150805A>G	ENST00000268717.5	-	11	1313	c.1207T>C	c.(1207-1209)Ttt>Ctt	p.F403L	COPS3_ENST00000439936.2_Missense_Mutation_p.F325L|COPS3_ENST00000539941.2_Missense_Mutation_p.F383L	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	403					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TTTTGTACAAACTGAGGGTTC	0.493																																						ENST00000539941.2																			0				NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(1147-1149)Ttt>Ctt		COP9 signalosome subunit 3							213.0	204.0	207.0					17																	17150805		2203	4300	6503	SO:0001583	missense	8533				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding	g.chr17:17150805A>G	AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3"", ""COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"""			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.1207T>C	17.37:g.17150805A>G	ENSP00000268717:p.Phe403Leu					COPS3_ENST00000439936.2_Missense_Mutation_p.F325L|COPS3_ENST00000268717.5_Missense_Mutation_p.F403L	p.F383L	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN			11	1355	-			403					B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000268717.5	37	c.1147T>C	CCDS11183.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.981335	0.53827	.	.	ENSG00000141030	ENST00000268717;ENST00000539941	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	L	0.43152	1.355	0.48975	D	0.999731	P	0.38420	0.63	P	0.45660	0.489	T	0.58025	-0.7709	9	0.39692	T	0.17	-21.5069	14.8515	0.70300	1.0:0.0:0.0:0.0	.	403	Q9UNS2	CSN3_HUMAN	L	403;383	.	ENSP00000268717:F403L	F	-	1	0	COPS3	17091530	1.000000	0.71417	0.998000	0.56505	0.855000	0.48748	9.097000	0.94193	2.090000	0.63153	0.533000	0.62120	TTT		0.493	COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131603.2			68	233	0	0	0	1	0	68	233				
PRKX	5613	broad.mit.edu	37	X	3592653	3592653	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:3592653C>T	ENST00000262848.5	-	2	675	c.321G>A	c.(319-321)ccG>ccA	p.P107P		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	107	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				TGATGAGGAACGGGTGGCTGA	0.562																																						ENST00000262848.5																			0				kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12						c.(319-321)ccG>ccA		protein kinase, X-linked							230.0	147.0	175.0					X																	3592653		2203	4300	6503	SO:0001819	synonymous_variant	5613						ATP binding|cAMP-dependent protein kinase activity	g.chrX:3592653C>T		CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.321G>A	X.37:g.3592653C>T							p.P107P	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN			2	675	-		all_lung(23;0.000396)|Lung NSC(23;0.00123)	107			Protein kinase.			Silent	SNP	ENST00000262848.5	37	c.321G>A	CCDS14125.1																																																																																				0.562	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1	NM_005044		30	36	0	0	0	1	0	30	36				
HMHA1	23526	broad.mit.edu	37	19	1080085	1080085	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1080085C>T	ENST00000313093.2	+	13	1902	c.1671C>T	c.(1669-1671)taC>taT	p.Y557Y	HMHA1_ENST00000590214.1_Silent_p.Y584Y|HMHA1_ENST00000539243.2_Silent_p.Y573Y|HMHA1_ENST00000543365.1_Silent_p.Y440Y|HMHA1_ENST00000536472.1_Silent_p.Y397Y|HMHA1_ENST00000586866.1_Silent_p.Y561Y|HMHA1_ENST00000590577.1_Silent_p.Y192Y	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	557					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTGCACTACGACTTTGAGC	0.672																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(1669-1671)taC>taT		histocompatibility (minor) HA-1							48.0	47.0	47.0					19																	1080085		2203	4300	6503	SO:0001819	synonymous_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1080085C>T	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1671C>T	19.37:g.1080085C>T						HMHA1_ENST00000590577.1_Silent_p.Y192Y|HMHA1_ENST00000539243.2_Silent_p.Y573Y|HMHA1_ENST00000590214.1_Silent_p.Y584Y|HMHA1_ENST00000536472.1_Silent_p.Y397Y|HMHA1_ENST00000586866.1_Silent_p.Y561Y|HMHA1_ENST00000543365.1_Silent_p.Y440Y	p.Y557Y	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1902	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	557					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	c.1671C>T	CCDS32863.1																																																																																				0.672	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			29	75	0	0	0	1	0	29	75				
LSG1	55341	broad.mit.edu	37	3	194373792	194373792	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:194373792T>C	ENST00000265245.5	-	8	1153	c.839A>G	c.(838-840)cAc>cGc	p.H280R		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	280	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		GGATTCACTGTGGGAAATTTC	0.448																																						ENST00000265245.5																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16						c.(838-840)cAc>cGc		large 60S subunit nuclear export GTPase 1							120.0	99.0	106.0					3																	194373792		2203	4300	6503	SO:0001583	missense	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194373792T>C		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.839A>G	3.37:g.194373792T>C	ENSP00000265245:p.His280Arg						p.H280R	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	8	1153	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		280					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	ENST00000265245.5	37	c.839A>G	CCDS33922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.394|4.394	0.072683|0.072683	0.08436|0.08436	.|.	.|.	ENSG00000041802|ENSG00000041802	ENST00000265245|ENST00000437613	T|.	0.39997|.	1.05|.	4.07|4.07	0.139|0.139	0.14798|0.14798	.|.	2.189830|.	0.01638|.	N|.	0.023870|.	T|T	0.22781|0.22781	0.0550|0.0550	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.23583|0.23583	-1.0184|-1.0184	10|5	0.25751|.	T|.	0.34|.	.|.	1.2043|1.2043	0.01891|0.01891	0.1838:0.1036:0.1909:0.5217|0.1838:0.1036:0.1909:0.5217	.|.	280|.	Q9H089|.	LSG1_HUMAN|.	R|A	280|14	ENSP00000265245:H280R|.	ENSP00000265245:H280R|.	H|T	-|-	2|1	0|0	LSG1|LSG1	195855081|195855081	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-1.444000|-1.444000	0.02403|0.02403	0.026000|0.026000	0.15269|0.15269	-0.316000|-0.316000	0.08728|0.08728	CAC|ACA		0.448	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		37	100	0	0	0	1	0	37	100				
PRDM2	7799	broad.mit.edu	37	1	14105907	14105907	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:14105907A>G	ENST00000235372.7	+	8	2473	c.1617A>G	c.(1615-1617)gtA>gtG	p.V539V	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Silent_p.V338V|PRDM2_ENST00000343137.4_Silent_p.V338V|PRDM2_ENST00000311066.5_Silent_p.V539V|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	539				TQNVYVPSTEPEEEGEA -> PRTCMYQAQSRRGRGSR (in Ref. 6; AAA87023). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACGTGTATGTACCAAGCACAG	0.488																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(1615-1617)gtA>gtG		PR domain containing 2, with ZNF domain							70.0	75.0	74.0					1																	14105907		2203	4300	6503	SO:0001819	synonymous_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14105907A>G	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1617A>G	1.37:g.14105907A>G						PRDM2_ENST00000311066.5_Silent_p.V539V|PRDM2_ENST00000343137.4_Silent_p.V338V|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Silent_p.V338V	p.V539V	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	2473	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	539	TQNVYVPSTEPEEEGEA -> PRTCMYQAQSRRGRGSR (in Ref. 4; AAA87023).				B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	c.1617A>G	CCDS150.1																																																																																				0.488	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		11	70	0	0	0	1	0	11	70				
CEP164	22897	broad.mit.edu	37	11	117280429	117280429	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:117280429C>A	ENST00000278935.3	+	30	3991	c.3844C>A	c.(3844-3846)Ctg>Atg	p.L1282M	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1282					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CCTCAGCATCCTGGACAGCCT	0.657																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(3844-3846)Ctg>Atg		centrosomal protein 164kDa							99.0	110.0	106.0					11																	117280429		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117280429C>A	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3844C>A	11.37:g.117280429C>A	ENSP00000278935:p.Leu1282Met					CEP164_ENST00000533706.1_3'UTR	p.L1282M	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	30	3991	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1282					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.3844C>A	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714309	0.48622	.	.	ENSG00000110274	ENST00000278935	T	0.35789	1.29	4.33	1.28	0.21552	.	0.224693	0.22460	N	0.059774	T	0.46718	0.1407	M	0.65498	2.005	0.34409	D	0.696103	P;P	0.44946	0.846;0.846	P;P	0.54460	0.753;0.753	T	0.59364	-0.7468	10	0.72032	D	0.01	-4.2977	8.5228	0.33287	0.0:0.6255:0.2897:0.0848	.	1282;1277	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	M	1282	ENSP00000278935:L1282M	ENSP00000278935:L1282M	L	+	1	2	CEP164	116785639	0.781000	0.28676	0.744000	0.31058	0.015000	0.08874	0.630000	0.24553	0.382000	0.24878	-0.440000	0.05779	CTG		0.657	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		104	266	1	0	7.73176e-47	1	8.20465e-47	104	266				
KLK3	354	broad.mit.edu	37	19	51363282	51363282	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:51363282T>C	ENST00000326003.2	+	5	726	c.685T>C	c.(685-687)Tgg>Cgg	p.W229R	KLK3_ENST00000360617.3_3'UTR|KLK3_ENST00000595952.1_Missense_Mutation_p.W186R	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	229	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		TATCACGTCATGGGGCAGTGA	0.547																																					Colon(185;1767 2023 13025 30120 37630)	ENST00000326003.2																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(685-687)Tgg>Cgg		kallikrein-related peptidase 3							208.0	165.0	180.0					19																	51363282		2203	4300	6503	SO:0001583	missense	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51363282T>C	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.685T>C	19.37:g.51363282T>C	ENSP00000314151:p.Trp229Arg					KLK3_ENST00000595952.1_Missense_Mutation_p.W186R|KLK3_ENST00000360617.3_3'UTR	p.W229R	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	5	726	+		all_neural(266;0.057)	229			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	c.685T>C	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.676917	0.47886	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000326052	D	0.90444	-2.67	3.41	1.07	0.20283	.	0.000000	0.36167	N	0.002758	D	0.93546	0.7940	M	0.82630	2.6	0.80722	D	1	D;P	0.53619	0.961;0.935	P;B	0.61328	0.887;0.44	D	0.91760	0.5419	10	0.87932	D	0	.	8.7511	0.34616	0.0:0.0:0.3532:0.6468	.	188;186	Q8NCW4;G3V0H4	.;.	R	229;186;188	ENSP00000314151:W229R	ENSP00000314151:W229R	W	+	1	0	KLK3	56055094	0.991000	0.36638	0.001000	0.08648	0.149000	0.21700	2.464000	0.45067	0.015000	0.14971	0.329000	0.21502	TGG		0.547	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		39	105	0	0	0	1	0	39	105				
OR2AG2	338755	broad.mit.edu	37	11	6790040	6790040	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:6790040G>T	ENST00000338569.2	-	1	246	c.149C>A	c.(148-150)aCc>aAc	p.T50N		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCTTCTATGGTGATGGCCAG	0.527																																						ENST00000338569.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28						c.(148-150)aCc>aAc		olfactory receptor, family 2, subfamily AG, member 2							146.0	133.0	137.0					11																	6790040		2201	4296	6497	SO:0001583	missense	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6790040G>T	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.149C>A	11.37:g.6790040G>T	ENSP00000342697:p.Thr50Asn						p.T50N	NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	246	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	50						Missense_Mutation	SNP	ENST00000338569.2	37	c.149C>A	CCDS31413.1	.	.	.	.	.	.	.	.	.	.	G	1.268	-0.613818	0.03690	.	.	ENSG00000188124	ENST00000338569	T	0.03065	4.06	4.28	2.42	0.29668	GPCR, rhodopsin-like superfamily (1);	0.127905	0.35772	N	0.002993	T	0.03178	0.0093	L	0.31476	0.935	0.28185	N	0.927983	B	0.24043	0.096	B	0.25614	0.062	T	0.36335	-0.9752	10	0.30854	T	0.27	.	8.9308	0.35668	0.1867:0.0:0.8133:0.0	.	50	A6NM03	O2AG2_HUMAN	N	50	ENSP00000342697:T50N	ENSP00000342697:T50N	T	-	2	0	OR2AG2	6746616	0.000000	0.05858	0.709000	0.30452	0.041000	0.13682	-0.643000	0.05421	0.758000	0.33059	-0.140000	0.14226	ACC		0.527	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		28	114	1	0	2.41591e-17	1	2.54096e-17	28	114				
UBE3B	89910	broad.mit.edu	37	12	109948151	109948151	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:109948151A>G	ENST00000342494.3	+	17	2339	c.1744A>G	c.(1744-1746)Aac>Gac	p.N582D	UBE3B_ENST00000280774.5_Missense_Mutation_p.N582D|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000434735.2_Missense_Mutation_p.N582D	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	582					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TCCCACAGAGAACGCCAAGGG	0.582																																						ENST00000342494.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(1744-1746)Aac>Gac		ubiquitin protein ligase E3B							49.0	39.0	43.0					12																	109948151		2203	4299	6502	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109948151A>G	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1744A>G	12.37:g.109948151A>G	ENSP00000340596:p.Asn582Asp					UBE3B_ENST00000434735.2_Missense_Mutation_p.N582D|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.N582D	p.N582D	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN			17	2339	+			582					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.1744A>G	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	A	11.82	1.753600	0.31046	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494;ENST00000539584	T;T;T;T	0.44881	1.29;0.91;1.53;1.29	4.98	4.98	0.66077	.	0.197115	0.49916	D	0.000121	T	0.29684	0.0741	L	0.29908	0.895	0.58432	D	0.999996	B	0.11235	0.004	B	0.06405	0.002	T	0.08932	-1.0698	10	0.12430	T	0.62	-3.8705	13.4833	0.61351	1.0:0.0:0.0:0.0	.	582	Q7Z3V4	UBE3B_HUMAN	D	582;582;582;582;9	ENSP00000391529:N582D;ENSP00000280774:N582D;ENSP00000443131:N582D;ENSP00000340596:N582D	ENSP00000280774:N582D	N	+	1	0	UBE3B	108432534	1.000000	0.71417	0.987000	0.45799	0.759000	0.43091	8.645000	0.91049	1.862000	0.54008	0.379000	0.24179	AAC		0.582	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		7	16	0	0	0	1	0	7	16				
CNGA3	1261	broad.mit.edu	37	2	99012708	99012708	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:99012708T>C	ENST00000272602.2	+	7	1114	c.1075T>C	c.(1075-1077)Tcc>Ccc	p.S359P	CNGA3_ENST00000409937.1_Missense_Mutation_p.S363P|CNGA3_ENST00000393504.1_Missense_Mutation_p.S359P|CNGA3_ENST00000436404.2_Missense_Mutation_p.S341P			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	359					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TCTCTACTGGTCCACCTTGAC	0.502																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(1075-1077)Tcc>Ccc		cyclic nucleotide gated channel alpha 3							83.0	83.0	83.0					2																	99012708		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99012708T>C	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1075T>C	2.37:g.99012708T>C	ENSP00000272602:p.Ser359Pro					CNGA3_ENST00000272602.2_Missense_Mutation_p.S359P|CNGA3_ENST00000409937.1_Missense_Mutation_p.S363P|CNGA3_ENST00000436404.2_Missense_Mutation_p.S341P	p.S359P	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	1492	+			359					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.1075T>C	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.003720	0.74932	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84	5.15	5.15	0.70609	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	M	0.93978	3.48	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.87578	0.998;0.942;0.998	D	0.99271	1.0893	10	0.87932	D	0	.	14.1071	0.65099	0.0:0.0:0.0:1.0	.	363;341;359	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	P	359;341;359;363	ENSP00000377140:S359P;ENSP00000410070:S341P;ENSP00000272602:S359P;ENSP00000386761:S363P	ENSP00000272602:S359P	S	+	1	0	CNGA3	98379140	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.525000	0.81892	2.163000	0.67991	0.460000	0.39030	TCC		0.502	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		29	97	0	0	0	1	0	29	97				
WDYHV1	55093	broad.mit.edu	37	8	124448756	124448756	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:124448756A>G	ENST00000287387.2	+	4	423	c.298A>G	c.(298-300)Act>Gct	p.T100A	WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523984.1_Missense_Mutation_p.T40A|WDYHV1_ENST00000518125.1_Intron|WDYHV1_ENST00000523356.1_Missense_Mutation_p.T100A	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	100					cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						TGATCTCGATACTGTCTTGCC	0.388																																						ENST00000523984.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						c.(118-120)Act>Gct		WDYHV motif containing 1							230.0	192.0	205.0					8																	124448756		2203	4300	6503	SO:0001583	missense	55093				protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	g.chr8:124448756A>G	AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 32"""	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.298A>G	8.37:g.124448756A>G	ENSP00000287387:p.Thr100Ala					WDYHV1_ENST00000523356.1_Missense_Mutation_p.T100A|WDYHV1_ENST00000518125.1_Intron|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000287387.2_Missense_Mutation_p.T100A	p.T40A			Q96HA8	NTAQ1_HUMAN			4	346	+			100					B4DE68|Q9NW95	Missense_Mutation	SNP	ENST00000287387.2	37	c.118A>G	CCDS6344.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.946189	0.53079	.	.	ENSG00000156795	ENST00000287387;ENST00000523984;ENST00000523356	T;T;T	0.18657	2.2;2.2;2.2	5.78	5.78	0.91487	Protein N-terminal glutamine amidohydrolase, alpha beta roll (1);Protein N-terminal glutamine amidohydrolase (1);	0.055261	0.64402	D	0.000001	T	0.39809	0.1092	M	0.83118	2.625	0.80722	D	1	P	0.47545	0.897	P	0.49226	0.603	T	0.42531	-0.9446	10	0.72032	D	0.01	-23.7021	15.0823	0.72125	1.0:0.0:0.0:0.0	.	100	Q96HA8	NTAQ1_HUMAN	A	100;40;100	ENSP00000287387:T100A;ENSP00000430427:T40A;ENSP00000428615:T100A	ENSP00000287387:T100A	T	+	1	0	WDYHV1	124517937	0.999000	0.42202	0.448000	0.26945	0.389000	0.30415	4.094000	0.57721	2.199000	0.70637	0.533000	0.62120	ACT		0.388	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381772.1	NM_018024		19	92	0	0	0	1	0	19	92				
AKR1C1	1645	broad.mit.edu	37	10	5014490	5014490	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:5014490G>A	ENST00000380872.4	+	6	860	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	AKR1C1_ENST00000434459.2_Missense_Mutation_p.R223Q|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	223					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	GGATCCCACCGAGAAGAACCA	0.408																																					Colon(130;2054 2316 13360 15380)	ENST00000380872.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						c.(667-669)cGa>cAa		aldo-keto reductase family 1, member C1							85.0	83.0	83.0					10																	5014490		2203	4300	6503	SO:0001583	missense	1645							g.chr10:5014490G>A	D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"""Aldo-keto reductases"""	384	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"""	600449	"""aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"""	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.668G>A	10.37:g.5014490G>A	ENSP00000370254:p.Arg223Gln					AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.R223Q	p.R223Q	NM_001353.5	NP_001344.2					6	860	+								P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	ENST00000380872.4	37	c.668G>A	CCDS7061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.72|11.72	1.722431|1.722431	0.30503|0.30503	.|.	.|.	ENSG00000187134|ENSG00000187134	ENST00000442997|ENST00000434459;ENST00000380872	.|T;T	.|0.22539	.|1.95;1.95	1.8|1.8	-0.294|-0.294	0.12831|0.12831	.|NADP-dependent oxidoreductase domain (3);	.|0.000000	.|0.51477	.|D	.|0.000085	T|T	0.19525|0.19525	0.0469|0.0469	N|N	0.17312|0.17312	0.475|0.475	0.09310|0.09310	N|N	1|1	.|D	.|0.69078	.|0.997	.|P	.|0.62885	.|0.908	T|T	0.08554|0.08554	-1.0716|-1.0716	5|10	.|0.72032	.|D	.|0.01	.|.	3.804|3.804	0.08770|0.08770	0.1575:0.0:0.6068:0.2357|0.1575:0.0:0.6068:0.2357	.|.	.|223	.|Q04828	.|AK1C1_HUMAN	K|Q	190|223	.|ENSP00000412248:R223Q;ENSP00000370254:R223Q	.|ENSP00000370254:R223Q	E|R	+|+	1|2	0|0	AKR1C1|AKR1C1	5004490|5004490	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.029000|0.029000	0.11900|0.11900	0.672000|0.672000	0.25187|0.25187	-0.078000|-0.078000	0.12730|0.12730	0.305000|0.305000	0.20034|0.20034	GAG|CGA		0.408	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353		15	39	0	0	0	1	0	15	39				
P2RY8	286530	broad.mit.edu	37	X	1584920	1584920	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:1584920C>T	ENST00000381297.4	-	2	742	c.532G>A	c.(532-534)Gtc>Atc	p.V178I	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACTTGAGGACGTCGAAGCAG	0.642			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	ENST00000381297.4				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		"""B-ALL, Downs associated ALL"""		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(532-534)Gtc>Atc		purinergic receptor P2Y, G-protein coupled, 8							122.0	75.0	91.0					X																	1584920		2203	4296	6499	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584920C>T	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.532G>A	X.37:g.1584920C>T	ENSP00000370697:p.Val178Ile						p.V178I	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN			2	742	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	178						Missense_Mutation	SNP	ENST00000381297.4	37	c.532G>A	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	c	15.32	2.797720	0.50208	.	.	ENSG00000182162	ENST00000381297	T	0.37584	1.19	2.41	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000006	T	0.49847	0.1581	M	0.66378	2.025	0.09310	N	1	D	0.71674	0.998	P	0.57283	0.817	T	0.44982	-0.9292	10	0.54805	T	0.06	.	12.9335	0.58301	0.0:1.0:0.0:0.0	.	178	Q86VZ1	P2RY8_HUMAN	I	178	ENSP00000370697:V178I	ENSP00000370697:V178I	V	-	1	0	P2RY8	1544920	1.000000	0.71417	0.971000	0.41717	0.006000	0.05464	4.197000	0.58413	0.838000	0.34948	0.279000	0.19357	GTC		0.642	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		4	61	0	0	0	1	0	4	61				
ZNF114	163071	broad.mit.edu	37	19	48789363	48789363	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:48789363A>G	ENST00000595607.1	+	6	976	c.482A>G	c.(481-483)aAt>aGt	p.N161S	ZNF114_ENST00000315849.1_Missense_Mutation_p.N161S|ZNF114_ENST00000597695.1_Missense_Mutation_p.N127S|ZNF114_ENST00000600687.1_Missense_Mutation_p.N161S			Q8NC26	ZN114_HUMAN	zinc finger protein 114	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TTCAAGTATAATCCTGTCTTA	0.428																																						ENST00000595607.1																			0				endometrium(1)|large_intestine(6)|lung(11)	18						c.(481-483)aAt>aGt		zinc finger protein 114							71.0	66.0	67.0					19																	48789363		2203	4300	6503	SO:0001583	missense	163071				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:48789363A>G	BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.482A>G	19.37:g.48789363A>G	ENSP00000469998:p.Asn161Ser					ZNF114_ENST00000315849.1_Missense_Mutation_p.N161S|ZNF114_ENST00000597695.1_Missense_Mutation_p.N127S|ZNF114_ENST00000600687.1_Missense_Mutation_p.N161S	p.N161S			Q8NC26	ZN114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)	6	976	+		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	161					A8K6B0|Q08AQ6	Missense_Mutation	SNP	ENST00000595607.1	37	c.482A>G	CCDS12713.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.404793	0.25378	.	.	ENSG00000178150	ENST00000315849	T	0.05513	3.43	2.12	-3.53	0.04667	.	.	.	.	.	T	0.03053	0.0090	N	0.24115	0.695	0.09310	N	1	B	0.22346	0.068	B	0.18263	0.021	T	0.47484	-0.9114	9	0.10636	T	0.68	.	3.426	0.07410	0.2852:0.0:0.4401:0.2747	.	161	Q8NC26	ZN114_HUMAN	S	161	ENSP00000318898:N161S	ENSP00000318898:N161S	N	+	2	0	ZNF114	53481175	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-1.033000	0.03571	-1.170000	0.02769	0.338000	0.21704	AAT		0.428	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465601.1	NM_153608		31	58	0	0	0	1	0	31	58				
SPEN	23013	broad.mit.edu	37	1	16245473	16245473	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:16245473A>G	ENST00000375759.3	+	7	1652	c.1448A>G	c.(1447-1449)tAc>tGc	p.Y483C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	483	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTTCTGCAATACTGTGATATT	0.328																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(1447-1449)tAc>tGc		spen family transcriptional repressor							117.0	116.0	116.0					1																	16245473		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16245473A>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1448A>G	1.37:g.16245473A>G	ENSP00000364912:p.Tyr483Cys						p.Y483C	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	7	1652	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	483			RRM 3.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.1448A>G	CCDS164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.3|21.3	4.123590|4.123590	0.77436|0.77436	.|.	.|.	ENSG00000065526|ENSG00000065526	ENST00000442985|ENST00000375759	.|T	.|0.21191	.|2.02	5.85|5.85	5.85|5.85	0.93711|0.93711	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.|.	.|.	.|.	.|.	T|T	0.60573|0.60573	0.2279|0.2279	H|H	0.95539|0.95539	3.685|3.685	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.73726|0.73726	-0.3892|-0.3892	5|9	.|0.87932	.|D	.|0	-9.5307|-9.5307	16.2995|16.2995	0.82801|0.82801	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|483	.|Q96T58	.|MINT_HUMAN	A|C	223|483	.|ENSP00000364912:Y483C	.|ENSP00000364912:Y483C	T|Y	+|+	1|2	0|0	SPEN|SPEN	16118060|16118060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	7.248000|7.248000	0.78268|0.78268	2.241000|2.241000	0.73720|0.73720	0.451000|0.451000	0.29950|0.29950	ACT|TAC		0.328	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		15	42	0	0	0	1	0	15	42				
CHD9	80205	broad.mit.edu	37	16	53330939	53330939	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:53330939G>C	ENST00000398510.3	+	29	5669	c.5582G>C	c.(5581-5583)aGa>aCa	p.R1861T	CHD9_ENST00000564845.1_Missense_Mutation_p.R1861T|CHD9_ENST00000566029.1_Missense_Mutation_p.R1861T|CHD9_ENST00000447540.1_Missense_Mutation_p.R1861T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1861					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GACCCTGACAGAGGCCAATTT	0.353																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(5581-5583)aGa>aCa		chromodomain helicase DNA binding protein 9							135.0	132.0	133.0					16																	53330939		1825	4087	5912	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53330939G>C	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5582G>C	16.37:g.53330939G>C	ENSP00000381522:p.Arg1861Thr					CHD9_ENST00000564845.1_Missense_Mutation_p.R1861T|CHD9_ENST00000447540.1_Missense_Mutation_p.R1861T|CHD9_ENST00000398510.3_Missense_Mutation_p.R1861T	p.R1861T			Q3L8U1	CHD9_HUMAN			30	5791	+		all_cancers(37;0.0212)	1861					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.5582G>C		.	.	.	.	.	.	.	.	.	.	G	13.75	2.330999	0.41297	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	T;T	0.79247	-1.25;-1.25	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000008	T	0.72653	0.3487	L	0.27053	0.805	0.37191	D	0.903946	P;B;P;P	0.46512	0.808;0.057;0.808;0.879	B;B;B;P	0.46076	0.307;0.113;0.307;0.503	T	0.75238	-0.3388	10	0.31617	T	0.26	-16.1469	18.6896	0.91578	0.0:0.0:1.0:0.0	.	229;1861;1861;1861	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	T	1861;1861;229	ENSP00000396345:R1861T;ENSP00000381522:R1861T	ENSP00000381522:R1861T	R	+	2	0	CHD9	51888440	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.298000	0.59067	2.421000	0.82119	0.484000	0.47621	AGA		0.353	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		35	113	0	0	0	1	0	35	113				
DPF1	8193	broad.mit.edu	37	19	38713318	38713318	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:38713318G>C	ENST00000420980.2	-	2	167	c.141C>G	c.(139-141)atC>atG	p.I47M	DPF1_ENST00000412732.1_De_novo_Start_InFrame|DPF1_ENST00000416611.1_Missense_Mutation_p.I21M|DPF1_ENST00000456296.1_Missense_Mutation_p.I21M|DPF1_ENST00000355526.4_Missense_Mutation_p.I47M|DPF1_ENST00000414789.1_De_novo_Start_InFrame	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	47					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCAGTGCTCGATGGCCTCGC	0.692																																						ENST00000416611.1																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(61-63)atC>atG		D4, zinc and double PHD fingers family 1							24.0	25.0	25.0					19																	38713318		2199	4296	6495	SO:0001583	missense	8193				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38713318G>C	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.141C>G	19.37:g.38713318G>C	ENSP00000397354:p.Ile47Met					DPF1_ENST00000355526.4_Missense_Mutation_p.I47M|DPF1_ENST00000420980.2_Missense_Mutation_p.I47M|DPF1_ENST00000412732.1_De_novo_Start_InFrame|DPF1_ENST00000456296.1_Missense_Mutation_p.I21M|DPF1_ENST00000414789.1_De_novo_Start_InFrame	p.I21M			Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		2	186	-	all_cancers(60;1.24e-06)		47					B3KSY8|Q08AJ0	Missense_Mutation	SNP	ENST00000420980.2	37	c.63C>G	CCDS33008.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	7.609|7.609	0.674325|0.674325	0.14841|0.14841	.|.	.|.	ENSG00000011332|ENSG00000011332	ENST00000420980;ENST00000437720;ENST00000416611;ENST00000456296;ENST00000434076|ENST00000355526	D;D;D|.	0.90444|.	-2.27;-2.2;-2.67|.	3.36|3.36	-1.27|-1.27	0.09347|0.09347	.|.	0.000000|.	0.64402|.	U|.	0.000010|.	T|T	0.34513|0.34513	0.0900|0.0900	N|N	0.21617|0.21617	0.685|0.685	0.80722|0.80722	D|D	1|1	D;D;D;D;P|.	0.89917|.	0.988;0.988;1.0;0.984;0.787|.	P;P;D;D;P|.	0.97110|.	0.758;0.846;1.0;0.964;0.604|.	T|T	0.09015|0.09015	-1.0694|-1.0694	10|5	0.10377|.	T|.	0.69|.	-8.6503|-8.6503	4.2096|4.2096	0.10505|0.10505	0.5179:0.0:0.3167:0.1654|0.5179:0.0:0.3167:0.1654	.|.	21;21;20;47;47|.	B4DMQ8;E9PDV3;C8C3P2;Q92782-2;Q92782|.	.;.;.;.;DPF1_HUMAN|.	M|G	47;47;21;21;21|40	ENSP00000397354:I47M;ENSP00000390223:I21M;ENSP00000411569:I21M|.	ENSP00000390223:I21M|.	I|R	-|-	3|1	3|2	DPF1|DPF1	43405158|43405158	0.000000|0.000000	0.05858|0.05858	0.997000|0.997000	0.53966|0.53966	0.993000|0.993000	0.82548|0.82548	-2.030000|-2.030000	0.01429|0.01429	-0.234000|-0.234000	0.09782|0.09782	0.394000|0.394000	0.25966|0.25966	ATC|CGA		0.692	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			7	21	0	0	0	1	0	7	21				
GSS	2937	broad.mit.edu	37	20	33517351	33517351	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:33517351T>C	ENST00000216951.2	-	12	1252	c.1154A>G	c.(1153-1155)cAg>cGg	p.Q385R	GSS_ENST00000451957.2_Missense_Mutation_p.Q274R|GSS_ENST00000541098.1_Missense_Mutation_p.Q257R	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	385					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GTCCTTCAGCTGTTTCAGGGC	0.562																																						ENST00000216951.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(1153-1155)cAg>cGg		glutathione synthetase	Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)						257.0	225.0	236.0					20																	33517351		2203	4300	6503	SO:0001583	missense	2937				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity	g.chr20:33517351T>C		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.1154A>G	20.37:g.33517351T>C	ENSP00000216951:p.Gln385Arg					GSS_ENST00000451957.2_Missense_Mutation_p.Q274R|GSS_ENST00000541098.1_Missense_Mutation_p.Q257R	p.Q385R	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)		12	1252	-			385					B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	ENST00000216951.2	37	c.1154A>G	CCDS13245.1	.	.	.	.	.	.	.	.	.	.	T	4.455	0.084288	0.08583	.	.	ENSG00000100983	ENST00000216951;ENST00000541098;ENST00000451957	D;D;D	0.90385	-2.66;-2.66;-2.66	5.13	-3.23	0.05109	ATP-grasp fold, subdomain 2 (1);	0.764575	0.12914	N	0.428675	T	0.76033	0.3931	N	0.04355	-0.22	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.59380	-0.7465	10	0.18276	T	0.48	-0.8285	13.7627	0.62977	0.0:0.3197:0.0:0.6803	.	274;385	B6F210;P48637	.;GSHB_HUMAN	R	385;257;274	ENSP00000216951:Q385R;ENSP00000439744:Q257R;ENSP00000407517:Q274R	ENSP00000216951:Q385R	Q	-	2	0	GSS	32981012	0.000000	0.05858	0.352000	0.25734	0.979000	0.70002	-0.575000	0.05861	-0.466000	0.06943	0.402000	0.26972	CAG		0.562	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			8	361	0	0	0	1	0	8	361				
DNAJB12	54788	broad.mit.edu	37	10	74104736	74104736	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:74104736T>C	ENST00000444643.2	-	2	615	c.283A>G	c.(283-285)Act>Gct	p.T95A	DNAJB12_ENST00000394903.2_Missense_Mutation_p.T129A|DNAJB12_ENST00000461919.1_Intron|DNAJB12_ENST00000338820.3_Missense_Mutation_p.T129A			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	95						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						TGTTCTGCAGTGTAGCCTTTG	0.607																																						ENST00000338820.3																			0				endometrium(1)|large_intestine(2)|skin(1)	4						c.(385-387)Act>Gct		DnaJ (Hsp40) homolog, subfamily B, member 12							238.0	237.0	237.0					10																	74104736		2203	4300	6503	SO:0001583	missense	54788				protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr10:74104736T>C	AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"""Heat shock proteins / DNAJ (HSP40)"""	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.283A>G	10.37:g.74104736T>C	ENSP00000403313:p.Thr95Ala					DNAJB12_ENST00000461919.1_Intron|DNAJB12_ENST00000444643.2_Missense_Mutation_p.T95A|DNAJB12_ENST00000394903.2_Missense_Mutation_p.T129A	p.T129A	NM_001002762.2	NP_001002762.2	Q9NXW2	DJB12_HUMAN			2	534	-			95			J.		B7Z7I3|Q9H6H0	Missense_Mutation	SNP	ENST00000444643.2	37	c.385A>G		.	.	.	.	.	.	.	.	.	.	T	17.51	3.408651	0.62399	.	.	ENSG00000148719	ENST00000338820;ENST00000394903;ENST00000444643	T;T;T	0.70399	-0.48;-0.48;-0.42	5.2	4.07	0.47477	Heat shock protein DnaJ, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72795	0.3505	M	0.81942	2.565	0.58432	D	0.999998	B;B	0.32188	0.359;0.245	B;B	0.36845	0.234;0.118	T	0.72893	-0.4154	10	0.66056	D	0.02	-23.9215	10.8289	0.46649	0.0:0.0745:0.0:0.9255	.	95;95	Q9NXW2-2;Q9NXW2	.;DJB12_HUMAN	A	129;129;95	ENSP00000345575:T129A;ENSP00000378363:T129A;ENSP00000403313:T95A	ENSP00000345575:T129A	T	-	1	0	DNAJB12	73774742	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	6.696000	0.74598	0.845000	0.35118	0.477000	0.44152	ACT		0.607	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048581.2			126	411	0	0	0	1	0	126	411				
PYCR2	29920	broad.mit.edu	37	1	226109591	226109591	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:226109591G>A	ENST00000343818.6	-	4	655	c.507C>T	c.(505-507)gcC>gcT	p.A169A	RP4-559A3.7_ENST00000432920.2_Intron|PYCR2_ENST00000478402.1_5'UTR	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	169					L-proline biosynthetic process (GO:0055129)	cytoplasm (GO:0005737)	pyrroline-5-carboxylate reductase activity (GO:0004735)			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)	GCCCCGTGACGGCATCGATGA	0.647																																						ENST00000343818.6																			0				kidney(1)|lung(3)	4						c.(505-507)gcC>gcT		pyrroline-5-carboxylate reductase family, member 2	L-Proline(DB00172)|NADH(DB00157)						47.0	38.0	41.0					1																	226109591		2203	4300	6503	SO:0001819	synonymous_variant	29920				proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity	g.chr1:226109591G>A	AF151351	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			ENSG00000143811	ENSG00000143811			30262	protein-coding gene	gene with protein product						12477932	Standard	NM_013328		Approved	P5CR2	uc001hpq.4	Q96C36	OTTHUMG00000037506	ENST00000343818.6:c.507C>T	1.37:g.226109591G>A						RP4-559A3.7_ENST00000432920.2_Intron|PYCR2_ENST00000478402.1_5'UTR	p.A169A	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN			4	655	-	Breast(184;0.197)		169					A8K798|Q7Z515|Q9Y5J4	Silent	SNP	ENST00000343818.6	37	c.507C>T	CCDS31043.1																																																																																				0.647	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091314.1	NM_013328		8	21	0	0	0	1	0	8	21				
GMEB2	26205	broad.mit.edu	37	20	62224425	62224425	+	Silent	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:62224425A>T	ENST00000266068.1	-	6	1108	c.630T>A	c.(628-630)tcT>tcA	p.S210S	GMEB2_ENST00000370077.1_Silent_p.S210S|GMEB2_ENST00000370069.1_Silent_p.S159S			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	210					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			TGGTCGCAGGAGACCCATTCA	0.597																																						ENST00000266068.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18						c.(628-630)tcT>tcA		glucocorticoid modulatory element binding protein 2							64.0	50.0	55.0					20																	62224425		2203	4300	6503	SO:0001819	synonymous_variant	26205				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62224425A>T	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.630T>A	20.37:g.62224425A>T						GMEB2_ENST00000370069.1_Silent_p.S159S|GMEB2_ENST00000370077.1_Silent_p.S210S	p.S210S			Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		6	1108	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		210					E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Silent	SNP	ENST00000266068.1	37	c.630T>A	CCDS13528.1																																																																																				0.597	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1	NM_012384		3	19	0	0	0	1	0	3	19				
HNRNPA3	220988	broad.mit.edu	37	2	178080345	178080345	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:178080345T>A	ENST00000392524.2	+	2	388	c.151T>A	c.(151-153)Tta>Ata	p.L51I	AC079305.8_ENST00000455416.1_RNA|MIR4444-1_ENST00000581696.1_RNA|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.L51I|HNRNPA3_ENST00000411529.2_Missense_Mutation_p.L29I			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	51	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						AGATGATAGTTTACGAGAACA	0.438																																						ENST00000411529.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						c.(85-87)Tta>Ata		heterogeneous nuclear ribonucleoprotein A3							66.0	66.0	66.0					2																	178080345		2203	4295	6498	SO:0001583	missense	220988					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:178080345T>A	AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"""RNA binding motif (RRM) containing"""	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.151T>A	2.37:g.178080345T>A	ENSP00000376309:p.Leu51Ile					HNRNPA3_ENST00000392524.2_Missense_Mutation_p.L51I|HNRNPA3_ENST00000435711.1_Missense_Mutation_p.L51I	p.L29I	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN			2	136	+			51					D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP	ENST00000392524.2	37	c.85T>A	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.677309	0.68042	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711	T;T;T	0.10960	2.82;2.82;2.82	4.22	4.22	0.49857	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.35262	U	0.003323	T	0.35364	0.0929	M	0.83223	2.63	0.53688	D	0.999979	D;D	0.76494	0.998;0.999	D;D	0.85130	0.997;0.996	T	0.31833	-0.9929	10	0.87932	D	0	.	13.6392	0.62239	0.0:0.0:0.0:1.0	.	29;51	B4DDB6;P51991	.;ROA3_HUMAN	I	51;29;29;29;51	ENSP00000376309:L51I;ENSP00000408487:L29I;ENSP00000416340:L51I	ENSP00000376309:L51I	L	+	1	2	HNRNPA3	177788591	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.138000	0.42140	1.696000	0.51158	0.260000	0.18958	TTA		0.438	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247		18	118	0	0	0	1	0	18	118				
CHRNA9	55584	broad.mit.edu	37	4	40339350	40339350	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:40339350G>A	ENST00000310169.2	+	3	473	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	CHRNA9_ENST00000502377.1_3'UTR	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	112					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	CAGTGACCTCGTGTGGAGGCC	0.468																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(334-336)Gtg>Atg		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						76.0	65.0	69.0					4																	40339350		2203	4300	6503	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40339350G>A	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.334G>A	4.37:g.40339350G>A	ENSP00000312663:p.Val112Met					CHRNA9_ENST00000502377.1_3'UTR	p.V112M	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			3	473	+			112					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.334G>A	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591120	0.66219	.	.	ENSG00000174343	ENST00000310169	D	0.81821	-1.54	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.113194	0.64402	D	0.000013	D	0.90971	0.7161	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91372	0.5120	10	0.87932	D	0	.	20.1174	0.97942	0.0:0.0:1.0:0.0	.	112	Q9UGM1	ACHA9_HUMAN	M	112	ENSP00000312663:V112M	ENSP00000312663:V112M	V	+	1	0	CHRNA9	40034107	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	9.476000	0.97823	2.771000	0.95319	0.591000	0.81541	GTG		0.468	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			15	55	0	0	0	1	0	15	55				
POP1	10940	broad.mit.edu	37	8	99146774	99146774	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:99146774T>C	ENST00000401707.2	+	7	979	c.898T>C	c.(898-900)Tat>Cat	p.Y300H	POP1_ENST00000349693.3_Missense_Mutation_p.Y300H	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	300					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GGTGAATAAATATCCCAGAGA	0.517																																						ENST00000401707.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(898-900)Tat>Cat		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)							123.0	123.0	123.0					8																	99146774		2203	4300	6503	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99146774T>C	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.898T>C	8.37:g.99146774T>C	ENSP00000385787:p.Tyr300His					POP1_ENST00000349693.3_Missense_Mutation_p.Y300H	p.Y300H	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		7	979	+	Breast(36;1.78e-06)		300					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.898T>C	CCDS6277.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.250368	0.80024	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.40756	1.02;1.02	6.06	4.88	0.63580	.	0.142496	0.49305	D	0.000159	T	0.63698	0.2533	M	0.85197	2.74	0.58432	D	0.999999	D	0.76494	0.999	D	0.77557	0.99	T	0.64245	-0.6453	10	0.18710	T	0.47	-1.0299	11.2699	0.49133	0.1361:0.0:0.0:0.8639	.	300	Q99575	POP1_HUMAN	H	300	ENSP00000385787:Y300H;ENSP00000339529:Y300H	ENSP00000339529:Y300H	Y	+	1	0	POP1	99215950	1.000000	0.71417	0.112000	0.21494	0.880000	0.50808	6.258000	0.72487	1.073000	0.40885	0.528000	0.53228	TAT		0.517	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		34	104	0	0	0	1	0	34	104				
PMS1	5378	broad.mit.edu	37	2	190660580	190660580	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:190660580A>T	ENST00000441310.2	+	3	451	c.218A>T	c.(217-219)tAc>tTc	p.Y73F	PMS1_ENST00000374826.4_Missense_Mutation_p.Y73F|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000409823.3_Missense_Mutation_p.Y73F|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Missense_Mutation_p.Y73F|PMS1_ENST00000409985.1_Missense_Mutation_p.Y73F|PMS1_ENST00000432292.3_Intron	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	73					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GCAATGAAGTACTACACCTCA	0.383			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000441310.2			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"""Mis, N"""	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian"""			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(217-219)tAc>tTc	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)							104.0	102.0	103.0					2																	190660580		2203	4300	6503	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190660580A>T		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.218A>T	2.37:g.190660580A>T	ENSP00000406490:p.Tyr73Phe					PMS1_ENST00000409823.3_Missense_Mutation_p.Y73F|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409985.1_Missense_Mutation_p.Y73F|PMS1_ENST00000374826.4_Missense_Mutation_p.Y73F|PMS1_ENST00000447232.2_Missense_Mutation_p.Y73F	p.Y73F	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		3	451	+			73					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.218A>T	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	A	33	5.232520	0.95207	.	.	ENSG00000064933	ENST00000441310;ENST00000409985;ENST00000409823;ENST00000374826;ENST00000424766;ENST00000447232;ENST00000420421	T;T;T;T;T;T;D	0.90788	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-2.73	5.78	5.78	0.91487	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	0.092014	0.85682	D	0.000000	D	0.86260	0.5890	N	0.11000	0.08	0.80722	D	1	P;P;P;P;P;P;P	0.42203	0.773;0.645;0.645;0.645;0.773;0.773;0.773	P;B;B;P;P;P;P	0.46885	0.53;0.425;0.348;0.53;0.53;0.53;0.53	D	0.88826	0.3302	10	0.66056	D	0.02	-2.2116	16.1121	0.81271	1.0:0.0:0.0:0.0	.	73;73;73;73;73;73;73	B4DMF4;E9PC40;Q5FBZ4;Q5FBZ9;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	F	73	ENSP00000406490:Y73F;ENSP00000386623:Y73F;ENSP00000387125:Y73F;ENSP00000363959:Y73F;ENSP00000410082:Y73F;ENSP00000401064:Y73F;ENSP00000391136:Y73F	ENSP00000343888:Y73F	Y	+	2	0	PMS1	190368825	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.288000	0.96055	2.213000	0.71641	0.519000	0.50382	TAC		0.383	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			24	76	0	0	0	1	0	24	76				
TRPV4	59341	broad.mit.edu	37	12	110240845	110240845	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:110240845G>A	ENST00000418703.2	-	3	757	c.663C>T	c.(661-663)ggC>ggT	p.G221G	TRPV4_ENST00000536838.1_Silent_p.G187G|TRPV4_ENST00000541794.1_Silent_p.G221G|TRPV4_ENST00000544971.1_Silent_p.G221G|TRPV4_ENST00000392719.2_Silent_p.G221G|TRPV4_ENST00000261740.2_Silent_p.G221G|TRPV4_ENST00000346520.2_Silent_p.G221G|TRPV4_ENST00000537083.1_Silent_p.G221G	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	221					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCCTCATGTTGCCGGTGCGCT	0.632																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(661-663)ggC>ggT		transient receptor potential cation channel, subfamily V, member 4							114.0	92.0	100.0					12																	110240845		2203	4300	6503	SO:0001819	synonymous_variant	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110240845G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.663C>T	12.37:g.110240845G>A						TRPV4_ENST00000541794.1_Silent_p.G221G|TRPV4_ENST00000392719.2_Silent_p.G221G|TRPV4_ENST00000346520.2_Silent_p.G221G|TRPV4_ENST00000261740.2_Silent_p.G221G|TRPV4_ENST00000537083.1_Silent_p.G221G|TRPV4_ENST00000536838.1_Silent_p.G187G|TRPV4_ENST00000544971.1_Silent_p.G221G	p.G221G	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			3	757	-			221					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	c.663C>T	CCDS9134.1																																																																																				0.632	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		16	63	0	0	0	1	0	16	63				
KDM4B	23030	broad.mit.edu	37	19	5039883	5039883	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:5039883T>C	ENST00000159111.4	+	4	396	c.178T>C	c.(178-180)Tat>Cat	p.Y60H	KDM4B_ENST00000536461.1_Missense_Mutation_p.Y60H|KDM4B_ENST00000381759.4_Missense_Mutation_p.Y60H	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	60					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCGGCAGACGTATGATGACAT	0.612																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(178-180)Tat>Cat		lysine (K)-specific demethylase 4B							74.0	72.0	73.0					19																	5039883		2203	4300	6503	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5039883T>C	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.178T>C	19.37:g.5039883T>C	ENSP00000159111:p.Tyr60His					KDM4B_ENST00000536461.1_Missense_Mutation_p.Y60H|KDM4B_ENST00000381759.4_Missense_Mutation_p.Y60H	p.Y60H	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			4	396	+			60					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.178T>C	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.053769	0.75960	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.50277	0.75;0.75;0.75	4.04	4.04	0.47022	.	0.000000	0.64402	D	0.000001	T	0.72542	0.3473	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.85130	0.977;0.997;0.978	T	0.76416	-0.2967	10	0.34782	T	0.22	-27.5968	13.4363	0.61086	0.0:0.0:0.0:1.0	.	60;60;60	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	H	60	ENSP00000159111:Y60H;ENSP00000371178:Y60H;ENSP00000440495:Y60H	ENSP00000159111:Y60H	Y	+	1	0	KDM4B	4990883	1.000000	0.71417	0.997000	0.53966	0.638000	0.38207	7.779000	0.85648	1.817000	0.53016	0.379000	0.24179	TAT		0.612	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		22	121	0	0	0	1	0	22	121				
SAP30L	79685	broad.mit.edu	37	5	153832994	153832994	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:153832994A>G	ENST00000297109.6	+	3	1005	c.357A>G	c.(355-357)ctA>ctG	p.L119L	SAP30L_ENST00000440364.2_Silent_p.L78L|SAP30L_ENST00000523198.1_3'UTR|SAP30L_ENST00000426761.2_Silent_p.L73L	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	SAP30-like	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGAACACCCTACGACGTTATA	0.483																																						ENST00000297109.6																			0				breast(1)|lung(3)	4						c.(355-357)ctA>ctG		SAP30-like							151.0	128.0	136.0					5																	153832994		2203	4300	6503	SO:0001819	synonymous_variant	79685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding	g.chr5:153832994A>G	AY341060	CCDS4326.1, CCDS47321.1, CCDS47322.1	5q33.2	2008-02-05			ENSG00000164576	ENSG00000164576			25663	protein-coding gene	gene with protein product		610398				14680513	Standard	NM_001131062		Approved	FLJ11526, NS4ATP2	uc003lvk.3	Q9HAJ7	OTTHUMG00000130146	ENST00000297109.6:c.357A>G	5.37:g.153832994A>G						SAP30L_ENST00000523198.1_3'UTR|SAP30L_ENST00000440364.2_Silent_p.L78L|SAP30L_ENST00000426761.2_Silent_p.L73L	p.L119L	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		3	1005	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	119					E9PAU7|E9PAY2	Silent	SNP	ENST00000297109.6	37	c.357A>G	CCDS4326.1																																																																																				0.483	SAP30L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252454.3	NM_024632		21	78	0	0	0	1	0	21	78				
CCDC67	159989	broad.mit.edu	37	11	93088587	93088587	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:93088587T>C	ENST00000298050.3	+	3	180	c.80T>C	c.(79-81)aTc>aCc	p.I27T	CCDC67_ENST00000530053.1_3'UTR|CCDC67_ENST00000527307.1_Missense_Mutation_p.I27T	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	27					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CAAATTGACATCATGGTAAGC	0.388																																						ENST00000298050.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(79-81)aTc>aCc		coiled-coil domain containing 67							111.0	110.0	111.0					11																	93088587		1864	4096	5960	SO:0001583	missense	159989							g.chr11:93088587T>C	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.80T>C	11.37:g.93088587T>C	ENSP00000298050:p.Ile27Thr					CCDC67_ENST00000530053.1_3'UTR|CCDC67_ENST00000527307.1_Missense_Mutation_p.I27T	p.I27T	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN			3	180	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	27					Q8NEF1|Q96LL7	Missense_Mutation	SNP	ENST00000298050.3	37	c.80T>C	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.249865	0.80024	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819;ENST00000527307	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	T	0.50769	0.1635	M	0.72353	2.195	0.43426	D	0.99558	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.50039	-0.8874	10	0.46703	T	0.11	.	15.6626	0.77199	0.0:0.0:0.0:1.0	.	27;27;19	Q05D60;E9PJR5;Q6ZRU6	CCD67_HUMAN;.;.	T	27	ENSP00000432111:I27T;ENSP00000298050:I27T;ENSP00000434635:I27T;ENSP00000433002:I27T	ENSP00000298050:I27T	I	+	2	0	CCDC67	92728235	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.440000	0.66563	2.114000	0.64651	0.402000	0.26972	ATC		0.388	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		5	108	0	0	0	1	0	5	108				
MRE11A	4361	broad.mit.edu	37	11	94179035	94179035	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:94179035G>A	ENST00000323929.3	-	16	2030	c.1808C>T	c.(1807-1809)aCc>aTc	p.T603I	MRE11A_ENST00000323977.3_Intron|MRE11A_ENST00000407439.3_Missense_Mutation_p.T606I|MRE11A_ENST00000393241.4_Missense_Mutation_p.T602I	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	603					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CCTGCTACGGGTAGAAGTCTC	0.363								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													ENST00000323929.3																			0				breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29						c.(1807-1809)aCc>aTc	Homologous recombination	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)							100.0	104.0	102.0					11																	94179035		2201	4298	6499	SO:0001583	missense	4361	Ataxia-Telangiectasia-Like Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94179035G>A	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1808C>T	11.37:g.94179035G>A	ENSP00000325863:p.Thr603Ile					MRE11A_ENST00000407439.3_Missense_Mutation_p.T606I|MRE11A_ENST00000323977.3_Intron|MRE11A_ENST00000393241.4_Missense_Mutation_p.T602I	p.T603I	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN			16	2030	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	603					O43475	Missense_Mutation	SNP	ENST00000323929.3	37	c.1808C>T	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	G	6.522	0.464587	0.12402	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000393241	T;T;T	0.75154	-0.91;-0.91;-0.9	5.11	3.1	0.35709	.	0.536720	0.21872	N	0.067865	T	0.63616	0.2526	L	0.47716	1.5	0.09310	N	0.999998	B;B	0.17268	0.021;0.017	B;B	0.17433	0.018;0.013	T	0.53373	-0.8448	10	0.45353	T	0.12	-17.9264	7.2521	0.26156	0.0918:0.0:0.7363:0.1719	.	606;603	B3KTC7;P49959	.;MRE11_HUMAN	I	603;606;602	ENSP00000325863:T603I;ENSP00000385614:T606I;ENSP00000376933:T602I	ENSP00000325863:T603I	T	-	2	0	MRE11A	93818683	0.003000	0.15002	0.248000	0.24265	0.008000	0.06430	0.878000	0.28126	2.560000	0.86352	0.650000	0.86243	ACC		0.363	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		6	124	0	0	0	1	0	6	124				
ZFYVE26	23503	broad.mit.edu	37	14	68219108	68219108	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:68219108T>C	ENST00000347230.4	-	40	7462	c.7324A>G	c.(7324-7326)Acc>Gcc	p.T2442A	RN7SL213P_ENST00000463482.2_RNA|ZFYVE26_ENST00000557306.1_Missense_Mutation_p.T288A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2442					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGGAGGATGGTGTCCCCGTCA	0.537																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(7324-7326)Acc>Gcc		zinc finger, FYVE domain containing 26							109.0	69.0	83.0					14																	68219108		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68219108T>C	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.7324A>G	14.37:g.68219108T>C	ENSP00000251119:p.Thr2442Ala					ZFYVE26_ENST00000557306.1_Missense_Mutation_p.T288A	p.T2442A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	40	7462	-			2442					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.7324A>G	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.259568	0.39995	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000557306	T;T	0.40476	1.89;1.03	6.04	3.7	0.42460	.	0.183998	0.47093	D	0.000253	T	0.13072	0.0317	N	0.01705	-0.755	0.80722	D	1	B;B	0.26483	0.001;0.15	B;B	0.15052	0.001;0.012	T	0.08166	-1.0735	10	0.08381	T	0.77	-10.9166	6.4374	0.21831	0.0:0.1336:0.1317:0.7348	.	288;2442	Q96H43;Q68DK2	.;ZFY26_HUMAN	A	2442;2421;288	ENSP00000251119:T2442A;ENSP00000452142:T288A	ENSP00000251119:T2442A	T	-	1	0	ZFYVE26	67288861	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.541000	0.36126	0.538000	0.28769	0.459000	0.35465	ACC		0.537	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		4	21	0	0	0	1	0	4	21				
MICA	100507436	broad.mit.edu	37	6	31379009	31379009	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:31379009C>T	ENST00000449934.2	+	3	540	c.486C>T	c.(484-486)gcC>gcT	p.A162A	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				AGACCTTGGCCATGAACGTCA	0.522																																						ENST00000449934.2																			0				breast(1)|endometrium(3)|kidney(1)	5						c.(484-486)gcC>gcT		MHC class I polypeptide-related sequence A							102.0	88.0	92.0					6																	31379009		692	1591	2283	SO:0001819	synonymous_variant	100507436				antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31379009C>T	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"""Immunoglobulin superfamily / C1-set domain containing"""	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.486C>T	6.37:g.31379009C>T						HCP5_ENST00000414046.2_RNA	p.A162A	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN			3	540	+		Ovarian(999;0.0253)	162						Silent	SNP	ENST00000449934.2	37	c.486C>T	CCDS56412.1																																																																																				0.522	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		5	24	0	0	0	1	0	5	24				
CRHR1	1394	broad.mit.edu	37	17	43912149	43912149	+	3'UTR	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:43912149A>G	ENST00000398285.3	+	0	1354				CRHR1_ENST00000314537.5_3'UTR|CRHR1_ENST00000339069.5_Silent_p.A276A	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1						activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GTCATGGAGCAGCCCCCAAAG	0.642																																					Ovarian(110;57 1568 10207 38216 49865)	ENST00000339069.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(826-828)gcA>gcG		corticotropin releasing hormone receptor 1							44.0	51.0	48.0					17																	43912149		2157	4257	6414	SO:0001624	3_prime_UTR_variant	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43912149A>G	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.*19A>G	17.37:g.43912149A>G						CRHR1_ENST00000314537.5_3'UTR|CRHR1_ENST00000398285.3_3'UTR	p.A276A			P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	13	1459	+	Colorectal(2;0.0416)		0					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Silent	SNP	ENST00000398285.3	37	c.828A>G	CCDS45712.1																																																																																				0.642	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			16	55	0	0	0	1	0	16	55				
BRCC3	79184	broad.mit.edu	37	X	154305515	154305515	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:154305515G>A	ENST00000369462.1	+	4	291	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	BRCC3_ENST00000330045.7_Missense_Mutation_p.R89Q|BRCC3_ENST00000340647.4_Missense_Mutation_p.R90Q|BRCC3_ENST00000369459.2_Missense_Mutation_p.R89Q|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000399042.1_Missense_Mutation_p.R89Q	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	89	MPN.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGGAAGGACCGAGTAGAAATT	0.443																																						ENST00000369462.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22						c.(265-267)cGa>cAa		BRCA1/BRCA2-containing complex, subunit 3							103.0	91.0	95.0					X																	154305515		1877	4099	5976	SO:0001583	missense	79184				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:154305515G>A	X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"""Lys-63-specific deubiquitinase"""	300617	"""chromosome X open reading frame 53"""	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.266G>A	X.37:g.154305515G>A	ENSP00000358474:p.Arg89Gln					BRCC3_ENST00000369459.2_Missense_Mutation_p.R89Q|BRCC3_ENST00000340647.4_Missense_Mutation_p.R90Q|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000330045.7_Missense_Mutation_p.R89Q|BRCC3_ENST00000399042.1_Missense_Mutation_p.R89Q	p.R89Q	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN			4	291	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		89					A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	ENST00000369462.1	37	c.266G>A	CCDS56611.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379790	0.82682	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369459;ENST00000369462;ENST00000411985;ENST00000399042;ENST00000457026;ENST00000399026	T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.53514	0.1801	M	0.84511	2.7	0.80722	D	1	P;B;P	0.38711	0.535;0.392;0.643	B;B;B	0.27715	0.071;0.027;0.082	T	0.62296	-0.6884	10	0.42905	T	0.14	-9.1109	15.2839	0.73814	0.0:0.0:1.0:0.0	.	90;89;89	P46736-3;P46736-2;P46736	.;.;BRCC3_HUMAN	Q	90;89;89;89;65;89;89;31	ENSP00000344103:R90Q;ENSP00000328641:R89Q;ENSP00000358471:R89Q;ENSP00000358474:R89Q;ENSP00000413170:R65Q;ENSP00000381998:R89Q;ENSP00000381988:R31Q	ENSP00000328641:R89Q	R	+	2	0	BRCC3	153958709	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.025000	0.93694	2.287000	0.76781	0.523000	0.50628	CGA		0.443	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332		23	31	0	0	0	1	0	23	31				
NEK1	4750	broad.mit.edu	37	4	170322898	170322898	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:170322898T>C	ENST00000439128.2	-	31	4044	c.3404A>G	c.(3403-3405)aAc>aGc	p.N1135S	NEK1_ENST00000510533.1_Missense_Mutation_p.N1091S|NEK1_ENST00000512193.1_Missense_Mutation_p.N1066S|NEK1_ENST00000511633.1_Missense_Mutation_p.N1119S|NEK1_ENST00000507142.1_Missense_Mutation_p.N1163S	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1135					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CACATCACTGTTCTTCAAGAC	0.473																																						ENST00000439128.2																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45						c.(3403-3405)aAc>aGc		NIMA-related kinase 1							304.0	295.0	298.0					4																	170322898		2073	4221	6294	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170322898T>C	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.3404A>G	4.37:g.170322898T>C	ENSP00000408020:p.Asn1135Ser					NEK1_ENST00000510533.1_Missense_Mutation_p.N1091S|NEK1_ENST00000507142.1_Missense_Mutation_p.N1163S|NEK1_ENST00000512193.1_Missense_Mutation_p.N1066S|NEK1_ENST00000511633.1_Missense_Mutation_p.N1119S	p.N1135S	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	31	4044	-		Prostate(90;0.00601)|Renal(120;0.0183)	1135					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.3404A>G	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.891796	0.00522	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.65	1.35	0.21983	.	0.601453	0.16637	N	0.205801	T	0.12135	0.0295	N	0.01109	-1.01	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.002;0.001;0.002;0.0	B;B;B;B;B	0.08055	0.003;0.003;0.003;0.003;0.001	T	0.34800	-0.9814	10	0.02654	T	1	.	9.7191	0.40291	0.0:0.1843:0.6138:0.2019	.	1066;1119;1163;1091;1135	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	S	1135;1119;1091;1163;1066	ENSP00000408020:N1135S;ENSP00000423332:N1119S;ENSP00000427653:N1091S;ENSP00000424757:N1163S;ENSP00000424938:N1066S	ENSP00000408020:N1135S	N	-	2	0	NEK1	170559473	1.000000	0.71417	0.242000	0.24170	0.011000	0.07611	0.899000	0.28417	-0.070000	0.12908	-0.256000	0.11100	AAC		0.473	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			7	258	0	0	0	1	0	7	258				
DNAH1	25981	broad.mit.edu	37	3	52417479	52417479	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52417479C>T	ENST00000420323.2	+	51	8280	c.8019C>T	c.(8017-8019)gaC>gaT	p.D2673D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2673	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATACTGCGGACGAGCAGGACC	0.557																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(8017-8019)gaC>gaT		dynein, axonemal, heavy chain 1							79.0	79.0	79.0					3																	52417479		2029	4185	6214	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52417479C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8019C>T	3.37:g.52417479C>T							p.D2673D	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	51	8280	+			2673			AAA 4 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.8019C>T	CCDS46842.1																																																																																				0.557	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		16	38	0	0	0	1	0	16	38				
SH3BP4	23677	broad.mit.edu	37	2	235951562	235951562	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:235951562A>G	ENST00000409212.1	+	4	2656	c.2149A>G	c.(2149-2151)Aag>Gag	p.K717E	SH3BP4_ENST00000392011.2_Missense_Mutation_p.K717E|SH3BP4_ENST00000344528.4_Missense_Mutation_p.K717E			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	717					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CGTGCACACCAAGAACGTGCT	0.687																																						ENST00000409212.1																			0				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.(2149-2151)Aag>Gag		SH3-domain binding protein 4							40.0	39.0	40.0					2																	235951562		2203	4299	6502	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235951562A>G	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.2149A>G	2.37:g.235951562A>G	ENSP00000386862:p.Lys717Glu					SH3BP4_ENST00000392011.2_Missense_Mutation_p.K717E|SH3BP4_ENST00000344528.4_Missense_Mutation_p.K717E	p.K717E			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	2656	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	717					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.2149A>G	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	A	18.34	3.602282	0.66445	.	.	ENSG00000130147	ENST00000392011;ENST00000409212;ENST00000344528	T;T;T	0.07216	3.21;3.21;3.21	5.26	5.26	0.73747	Variant SH3 (1);	0.047698	0.85682	D	0.000000	T	0.29914	0.0748	M	0.77103	2.36	0.53005	D	0.99996	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.03043	-1.1079	10	0.72032	D	0.01	-30.8026	14.008	0.64478	1.0:0.0:0.0:0.0	.	717;717	A8K594;Q9P0V3	.;SH3B4_HUMAN	E	717	ENSP00000375867:K717E;ENSP00000386862:K717E;ENSP00000340237:K717E	ENSP00000340237:K717E	K	+	1	0	SH3BP4	235616301	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.937000	0.75898	1.989000	0.58080	0.533000	0.62120	AAG		0.687	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			25	86	0	0	0	1	0	25	86				
ECT2L	345930	broad.mit.edu	37	6	139222228	139222228	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:139222228T>C	ENST00000423192.1	+	20	2719	c.2558T>C	c.(2557-2559)tTa>tCa	p.L853S	ECT2L_ENST00000541398.1_Missense_Mutation_p.L707S|ECT2L_ENST00000367682.2_Missense_Mutation_p.L853S			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	853							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CTTCATCGGTTACTCATAGAA	0.403			"""N, Splice, Mis"""		ETP ALL																																	ENST00000423192.1				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2557-2559)tTa>tCa		epithelial cell transforming sequence 2 oncogene-like							160.0	146.0	151.0					6																	139222228		1841	4103	5944	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139222228T>C		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2558T>C	6.37:g.139222228T>C	ENSP00000387388:p.Leu853Ser					ECT2L_ENST00000541398.1_Missense_Mutation_p.L707S|ECT2L_ENST00000367682.2_Missense_Mutation_p.L853S	p.L853S			Q008S8	ECT2L_HUMAN			20	2719	+			853					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.2558T>C	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	T	12.27	1.888989	0.33348	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.79141	-1.24;-1.24;-1.24	5.5	5.5	0.81552	Pleckstrin homology-type (1);	0.000000	0.30483	U	0.009538	T	0.79281	0.4419	M	0.74881	2.28	0.09310	N	1	D;P	0.57899	0.981;0.943	P;P	0.56700	0.804;0.642	T	0.75207	-0.3399	10	0.62326	D	0.03	-3.9011	13.1254	0.59351	0.0:0.0:0.0:1.0	.	707;853	F5H7S9;Q008S8	.;ECT2L_HUMAN	S	853;853;707	ENSP00000387388:L853S;ENSP00000356655:L853S;ENSP00000442307:L707S	ENSP00000356655:L853S	L	+	2	0	ECT2L	139263921	0.292000	0.24362	0.009000	0.14445	0.048000	0.14542	5.047000	0.64232	2.088000	0.63022	0.477000	0.44152	TTA		0.403	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		6	121	0	0	0	1	0	6	121				
ADAM12	8038	broad.mit.edu	37	10	127731634	127731634	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:127731634T>C	ENST00000368679.4	-	18	2397	c.2088A>G	c.(2086-2088)acA>acG	p.T696T	ADAM12_ENST00000368676.4_Silent_p.T696T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	696					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GGCCGCTGTCTGTGCTTCCTC	0.637																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2086-2088)acA>acG		ADAM metallopeptidase domain 12							78.0	64.0	69.0					10																	127731634		2203	4300	6503	SO:0001819	synonymous_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127731634T>C	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2088A>G	10.37:g.127731634T>C						ADAM12_ENST00000368676.4_Silent_p.T696T	p.T696T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	18	2397	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	696					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	c.2088A>G	CCDS7653.1																																																																																				0.637	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			11	45	0	0	0	1	0	11	45				
CHRNA2	1135	broad.mit.edu	37	8	27321457	27321457	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:27321457G>A	ENST00000520933.2	-	5	656	c.503C>T	c.(502-504)aCg>aTg	p.T168M	CHRNA2_ENST00000407991.1_Missense_Mutation_p.T168M|CHRNA2_ENST00000240132.2_Missense_Mutation_p.T153M			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	168					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	CACAGTGCCCGTGGAGAAGAG	0.597																																						ENST00000407991.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(502-504)aCg>aTg		cholinergic receptor, nicotinic, alpha 2 (neuronal)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)						84.0	79.0	81.0					8																	27321457		2203	4300	6503	SO:0001583	missense	1135					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:27321457G>A	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.503C>T	8.37:g.27321457G>A	ENSP00000429616:p.Thr168Met					CHRNA2_ENST00000520933.2_Missense_Mutation_p.T168M|CHRNA2_ENST00000240132.2_Missense_Mutation_p.T153M	p.T168M	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	6	1111	-		Ovarian(32;2.61e-05)	168					A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	c.503C>T	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129595	0.56721	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	T;T;T	0.79141	-1.24;-1.24;-1.24	4.66	4.66	0.58398	Neurotransmitter-gated ion-channel ligand-binding (3);	0.325141	0.31566	N	0.007422	D	0.85195	0.5641	M	0.74881	2.28	0.38169	D	0.939286	D;D	0.65815	0.995;0.995	D;D	0.66497	0.944;0.944	D	0.87626	0.2513	10	0.87932	D	0	.	10.1743	0.42929	0.0:0.0:0.8012:0.1987	.	153;168	B4DK19;Q15822	.;ACHA2_HUMAN	M	168;168;153	ENSP00000385026:T168M;ENSP00000429616:T168M;ENSP00000240132:T153M	ENSP00000240132:T153M	T	-	2	0	CHRNA2	27377374	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	2.157000	0.42320	2.424000	0.82194	0.491000	0.48974	ACG		0.597	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			34	119	0	0	0	1	0	34	119				
ARHGEF3	50650	broad.mit.edu	37	3	56771216	56771216	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:56771216G>A	ENST00000296315.3	-	8	1206	c.1038C>T	c.(1036-1038)ggC>ggT	p.G346G	ARHGEF3_ENST00000496106.1_Silent_p.G352G|ARHGEF3_ENST00000495373.1_Silent_p.G346G|ARHGEF3_ENST00000413728.2_Silent_p.G352G|ARHGEF3_ENST00000497267.1_Silent_p.G317G|ARHGEF3_ENST00000338458.4_Silent_p.G378G	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	346	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TACTTACCACGCCCCGATTGT	0.473																																						ENST00000413728.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25						c.(1054-1056)ggC>ggT		Rho guanine nucleotide exchange factor (GEF) 3							118.0	110.0	113.0					3																	56771216		2203	4300	6503	SO:0001819	synonymous_variant	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56771216G>A	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.1038C>T	3.37:g.56771216G>A						ARHGEF3_ENST00000496106.1_Silent_p.G352G|ARHGEF3_ENST00000338458.4_Silent_p.G378G|ARHGEF3_ENST00000296315.3_Silent_p.G346G|ARHGEF3_ENST00000497267.1_Silent_p.G317G|ARHGEF3_ENST00000495373.1_Silent_p.G346G	p.G352G	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	8	1599	-			346			PH.		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Silent	SNP	ENST00000296315.3	37	c.1056C>T	CCDS2878.1																																																																																				0.473	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		34	112	0	0	0	1	0	34	112				
SULF2	55959	broad.mit.edu	37	20	46292235	46292235	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:46292235T>C	ENST00000359930.4	-	16	3040	c.2189A>G	c.(2188-2190)cAc>cGc	p.H730R	SULF2_ENST00000484875.1_Missense_Mutation_p.H730R|SULF2_ENST00000361612.4_Missense_Mutation_p.H730R|SULF2_ENST00000467815.1_Missense_Mutation_p.H730R	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	730					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CTGGTTGTCGTGGGTGAAGCA	0.612											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2188-2190)cAc>cGc		sulfatase 2							121.0	109.0	113.0					20																	46292235		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46292235T>C	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.2189A>G	20.37:g.46292235T>C	ENSP00000353007:p.His730Arg		OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	938	SULF2_ENST00000361612.4_Missense_Mutation_p.H730R|SULF2_ENST00000467815.1_Missense_Mutation_p.H730R|SULF2_ENST00000484875.1_Missense_Mutation_p.H730R	p.H730R	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			16	3040	-			730					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.2189A>G	CCDS13408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.2|29.2	4.982067|4.982067	0.93044|0.93044	.|.	.|.	ENSG00000196562|ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000467815|ENST00000495544	T;T;T;T|.	0.24151|.	1.87;1.87;1.87;1.87|.	5.94|5.94	5.94|5.94	0.96194|0.96194	Alkaline-phosphatase-like, core domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80444|0.80444	0.4624|0.4624	M|M	0.87381|0.87381	2.88|2.88	0.58432|0.58432	D|D	0.999999|0.999999	P;D|.	0.76494|.	0.918;0.999|.	P;D|.	0.80764|.	0.857;0.994|.	T|T	0.83111|0.83111	-0.0123|-0.0123	10|5	0.87932|.	D|.	0|.	-31.7281|-31.7281	16.3979|16.3979	0.83621|0.83621	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	730;730|.	Q8IWU5-2;Q8IWU5|.	.;SULF2_HUMAN|.	R|A	730;730;730;149;730|85	ENSP00000353007:H730R;ENSP00000418290:H730R;ENSP00000354662:H730R;ENSP00000418442:H730R|.	ENSP00000353007:H730R|.	H|T	-|-	2|1	0|0	SULF2|SULF2	45725642|45725642	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	8.040000|8.040000	0.89188|0.89188	2.279000|2.279000	0.76181|0.76181	0.459000|0.459000	0.35465|0.35465	CAC|ACG		0.612	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		50	122	0	0	0	1	0	50	122				
DAG1	1605	broad.mit.edu	37	3	49569252	49569252	+	Silent	SNP	G	G	A	rs143763229	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:49569252G>A	ENST00000539901.1	+	3	1866	c.1308G>A	c.(1306-1308)acG>acA	p.T436T	DAG1_ENST00000515359.2_Silent_p.T436T|DAG1_ENST00000541308.1_Silent_p.T436T|DAG1_ENST00000545947.1_Silent_p.T436T|DAG1_ENST00000538711.1_Silent_p.T436T|DAG1_ENST00000308775.2_Silent_p.T436T	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	436	Mucin-like domain.|Thr-rich.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACCAGCAACGCCTTCAACTG	0.577													G|||	2	0.000399361	0.0	0.0	5008	,	,		17597	0.0		0.0	False		,,,				2504	0.002					ENST00000545947.1																			0				NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23						c.(1306-1308)acG>acA		dystroglycan 1 (dystrophin-associated glycoprotein 1)		G	,,,,,,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	188.0	180.0	183.0		1308,1308,1308,1308,1308,1308,1308,1308,1308,1308,1308,1308,1308	0.2	1.0	3	dbSNP_134	183	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DAG1	NM_001165928.2,NM_001177634.1,NM_001177635.1,NM_001177636.1,NM_001177637.1,NM_001177638.1,NM_001177639.1,NM_001177640.1,NM_001177641.1,NM_001177642.1,NM_001177643.1,NM_001177644.1,NM_004393.4	,,,,,,,,,,,,	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	,,,,,,,,,,,,	436/896,436/896,436/896,436/896,436/896,436/896,436/896,436/896,436/896,436/896,436/896,436/896,436/896	49569252	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49569252G>A	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.1308G>A	3.37:g.49569252G>A						DAG1_ENST00000538711.1_Silent_p.T436T|DAG1_ENST00000515359.2_Silent_p.T436T|DAG1_ENST00000541308.1_Silent_p.T436T|DAG1_ENST00000539901.1_Silent_p.T436T|DAG1_ENST00000308775.2_Silent_p.T436T	p.T436T	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	6	2030	+			436			Mucin-like domain.|Thr-rich.		A8K6M7|Q969J9	Silent	SNP	ENST00000539901.1	37	c.1308G>A	CCDS2799.1																																																																																				0.577	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			27	121	0	0	0	1	0	27	121				
TOMM70A	9868	broad.mit.edu	37	3	100087929	100087929	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:100087929T>C	ENST00000284320.5	-	10	1951	c.1503A>G	c.(1501-1503)aaA>aaG	p.K501K		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	501					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						AATCAATACATTTATCATACA	0.313																																						ENST00000284320.5																			0				endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						c.(1501-1503)aaA>aaG		translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)							198.0	186.0	191.0					3																	100087929		2202	4297	6499	SO:0001819	synonymous_variant	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100087929T>C	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.1503A>G	3.37:g.100087929T>C							p.K501K	NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN			10	1951	-			501					D3DN48	Silent	SNP	ENST00000284320.5	37	c.1503A>G	CCDS33807.1																																																																																				0.313	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			20	74	0	0	0	1	0	20	74				
OR7A5	26659	broad.mit.edu	37	19	14938707	14938707	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:14938707G>A	ENST00000322301.3	-	2	434	c.347C>T	c.(346-348)tCc>tTc	p.S116F	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.S116F			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	116					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GGCCATCACGGACAGGAGGAA	0.478																																						ENST00000322301.3																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(346-348)tCc>tTc		olfactory receptor, family 7, subfamily A, member 5							121.0	110.0	114.0					19																	14938707		2203	4300	6503	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938707G>A	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.347C>T	19.37:g.14938707G>A	ENSP00000316955:p.Ser116Phe					OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.S116F	p.S116F			Q15622	OR7A5_HUMAN			2	434	-			116					B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.347C>T	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	g	10.18	1.279913	0.23392	.	.	ENSG00000188269	ENST00000322301	T	0.00406	7.55	3.13	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	0.616301	0.12043	U	0.504883	T	0.00608	0.0020	M	0.83312	2.635	0.09310	N	1	B	0.25609	0.13	B	0.33890	0.172	T	0.28396	-1.0045	10	0.87932	D	0	.	8.4718	0.32991	0.1226:0.0:0.8774:0.0	.	116	Q15622	OR7A5_HUMAN	F	116	ENSP00000316955:S116F	ENSP00000316955:S116F	S	-	2	0	OR7A5	14799707	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	0.857000	0.27831	0.687000	0.31509	0.134000	0.15878	TCC		0.478	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		41	91	0	0	0	1	0	41	91				
LRP1B	53353	broad.mit.edu	37	2	141643877	141643877	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:141643877G>T	ENST00000389484.3	-	24	4765	c.3794C>A	c.(3793-3795)tCt>tAt	p.S1265Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1265					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGACGAATAGAAAAGATGAT	0.308										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(3793-3795)tCt>tAt		low density lipoprotein receptor-related protein 1B							63.0	63.0	63.0					2																	141643877		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141643877G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3794C>A	2.37:g.141643877G>T	ENSP00000374135:p.Ser1265Tyr	TSP Lung(27;0.18)					p.S1265Y	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	24	4765	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1265					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3794C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869506	0.91587	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.92348	-3.02;-3.02	5.78	5.78	0.91487	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97536	0.9193	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.993;0.996	D	0.97787	1.0236	10	0.59425	D	0.04	.	20.0175	0.97485	0.0:0.0:1.0:0.0	.	448;1265	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	Y	1265;1203;410	ENSP00000374135:S1265Y;ENSP00000413239:S410Y	ENSP00000374135:S1265Y	S	-	2	0	LRP1B	141360347	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.797000	0.85911	2.730000	0.93505	0.650000	0.86243	TCT		0.308	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		14	34	1	0	0.000219431	1	0.000222589	14	34				
OR5D13	390142	broad.mit.edu	37	11	55541197	55541197	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:55541197C>G	ENST00000361760.1	+	1	284	c.284C>G	c.(283-285)tCt>tGt	p.S95C		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				AGAACCATCTCTTTCTCTGGT	0.403																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(283-285)tCt>tGt		olfactory receptor, family 5, subfamily D, member 13							187.0	180.0	182.0					11																	55541197		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541197C>G	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.284C>G	11.37:g.55541197C>G	ENSP00000354800:p.Ser95Cys						p.S95C	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	284	+		all_epithelial(135;0.196)	95					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.284C>G	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	9.228	1.035185	0.19590	.	.	ENSG00000198877	ENST00000361760	T	0.00745	5.75	3.52	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33382	U	0.004971	T	0.01940	0.0061	M	0.89658	3.05	0.21527	N	0.99966	B	0.24533	0.105	B	0.32762	0.152	T	0.25984	-1.0116	10	0.72032	D	0.01	-17.7497	6.275	0.20975	0.1833:0.713:0.0:0.1037	.	95	Q8NGL4	OR5DD_HUMAN	C	95	ENSP00000354800:S95C	ENSP00000354800:S95C	S	+	2	0	OR5D13	55297773	0.361000	0.24972	0.004000	0.12327	0.008000	0.06430	2.750000	0.47500	0.265000	0.21872	0.486000	0.48141	TCT		0.403	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		54	145	0	0	0	1	0	54	145				
PLCL1	5334	broad.mit.edu	37	2	198953648	198953648	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:198953648T>C	ENST00000428675.1	+	3	3180	c.2782T>C	c.(2782-2784)Tta>Cta	p.L928L	PLCL1_ENST00000437704.2_Silent_p.L830L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	928					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GCAGTGCCTGTTAACTCTGTC	0.463																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2782-2784)Tta>Cta		phospholipase C-like 1	Quinacrine(DB01103)						360.0	349.0	353.0					2																	198953648		2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198953648T>C	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2782T>C	2.37:g.198953648T>C						PLCL1_ENST00000437704.2_Silent_p.L830L	p.L928L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			3	3180	+			928					Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.2782T>C	CCDS2326.2																																																																																				0.463	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		148	415	0	0	0	1	0	148	415				
ANKHD1	54882	broad.mit.edu	37	5	139918959	139918959	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:139918959T>C	ENST00000360839.2	+	34	7739	c.7585T>C	c.(7585-7587)Tgg>Cgg	p.W2529R	ANKHD1-EIF4EBP3_ENST00000532219.1_Intron|ANKHD1_ENST00000297183.6_Intron|ANKHD1_ENST00000544120.1_Missense_Mutation_p.W853R	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2529						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGGCACGTGGGCACCTCA	0.363																																						ENST00000360839.2																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(7585-7587)Tgg>Cgg		ankyrin repeat and KH domain containing 1							153.0	155.0	155.0					5																	139918959		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139918959T>C	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.7585T>C	5.37:g.139918959T>C	ENSP00000354085:p.Trp2529Arg					ANKHD1_ENST00000297183.6_Intron|ANKHD1-EIF4EBP3_ENST00000532219.1_Intron|ANKHD1_ENST00000544120.1_Missense_Mutation_p.W853R	p.W2529R	NM_017747.2	NP_060217.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		34	7739	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.7585T>C	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.05|17.05	3.289900|3.289900	0.59976|0.59976	.|.	.|.	ENSG00000131503|ENSG00000131503	ENST00000435794;ENST00000432301|ENST00000360839;ENST00000431508;ENST00000433049;ENST00000544120	.|D;T;T;T	.|0.83837	.|-1.77;0.41;0.38;-0.15	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|.	.|.	.|.	.|.	D|D	0.89227|0.89227	0.6655|0.6655	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.996	.|D;D	.|0.87578	.|0.998;0.995	D|D	0.90230|0.90230	0.4278|0.4278	5|9	.|0.87932	.|D	.|0	.|.	16.0204|16.0204	0.80478|0.80478	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|976;2529	.|Q9H059;Q8IWZ3	.|.;ANKH1_HUMAN	A|R	1010;920|2529;1202;1059;853	.|ENSP00000354085:W2529R;ENSP00000393204:W1202R;ENSP00000390034:W1059R;ENSP00000437687:W853R	.|ENSP00000354085:W2529R	V|W	+|+	2|1	0|0	ANKHD1|ANKHD1	139899143|139899143	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.342000|7.342000	0.79310|0.79310	2.174000|2.174000	0.68829|0.68829	0.533000|0.533000	0.62120|0.62120	GTG|TGG		0.363	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		48	147	0	0	0	1	0	48	147				
GJB4	127534	broad.mit.edu	37	1	35226920	35226920	+	Missense_Mutation	SNP	G	G	A	rs80358212		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:35226920G>A	ENST00000339480.1	+	2	435	c.65G>A	c.(64-66)cGc>cAc	p.R22H	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	22					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.R22L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GTGCTGAGCCGCATCTGGCTG	0.577																																						ENST00000339480.1																			1	Substitution - Missense(1)	p.R22L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16	GRCh37	CM035047	GJB4	M	rs80358212	c.(64-66)cGc>cAc		gap junction protein, beta 4, 30.3kDa							207.0	147.0	167.0					1																	35226920		2203	4300	6503	SO:0001583	missense	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35226920G>A		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.65G>A	1.37:g.35226920G>A	ENSP00000345868:p.Arg22His						p.R22H	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN			2	435	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	22					B3KQ82	Missense_Mutation	SNP	ENST00000339480.1	37	c.65G>A	CCDS383.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825201	0.90955	.	.	ENSG00000189433	ENST00000339480	D	0.99252	-5.63	5.5	5.5	0.81552	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99447	0.9804	M	0.83384	2.64	0.43793	A	0.996335	D	0.89917	1.0	D	0.87578	0.998	D	0.98977	1.0803	9	0.87932	D	0	.	18.9965	0.92815	0.0:0.0:1.0:0.0	.	22	Q9NTQ9	CXB4_HUMAN	H	22	ENSP00000345868:R22H	ENSP00000345868:R22H	R	+	2	0	GJB4	34999507	0.873000	0.30073	1.000000	0.80357	0.953000	0.61014	2.882000	0.48546	2.604000	0.88044	0.655000	0.94253	CGC		0.577	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		14	40	0	0	0	1	0	14	40				
SMDT1	91689	broad.mit.edu	37	22	42477930	42477930	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:42477930T>C	ENST00000331479.3	+	2	262	c.188T>C	c.(187-189)aTg>aCg	p.M63T		NM_033318.4	NP_201575.3	Q9H4I9	EMRE_HUMAN	single-pass membrane protein with aspartate-rich tail 1	63					calcium ion transmembrane import into mitochondrion (GO:0036444)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	integral component of mitochondrial inner membrane (GO:0031305)|uniplex complex (GO:1990246)											CCTCTGCAGATGTCCTTCGGC	0.532																																						ENST00000331479.3																			0											c.e2-1		single-pass membrane protein with aspartate-rich tail 1							161.0	150.0	154.0					22																	42477930		2203	4300	6503	SO:0001630	splice_region_variant	91689							g.chr22:42477930T>C	BC024237	CCDS14031.1	22q13.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000183172	ENSG00000183172			25055	protein-coding gene	gene with protein product		615588	"""chromosome 22 open reading frame 32"""	C22orf32		12477932	Standard	NM_033318		Approved	dJ186O1.1, DDDD	uc003bca.3	Q9H4I9	OTTHUMG00000151286	ENST00000331479.3:c.187-1T>C	22.37:g.42477930T>C						SMDT1_ENST00000547929.1_Intron	p.M63_splice	NM_033318.4	NP_201575.3					2	262	+								B2R5D1|Q8TAB9	Splice_Site	SNP	ENST00000331479.3	37	c.186_splice	CCDS14031.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.777605	0.49786	.	.	ENSG00000183172	ENST00000331479	T	0.41065	1.01	5.82	5.82	0.92795	.	0.134719	0.64402	D	0.000001	T	0.22166	0.0534	N	0.13003	0.285	0.37996	D	0.934062	B	0.25007	0.116	B	0.23574	0.047	T	0.13710	-1.0499	10	0.02654	T	1	-18.2268	10.8019	0.46493	0.0:0.0789:0.0:0.9211	.	63	Q9H4I9	CV032_HUMAN	T	63	ENSP00000327467:M63T	ENSP00000327467:M63T	M	+	2	0	C22orf32	40807876	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.702000	0.61817	2.225000	0.72522	0.459000	0.35465	ATG		0.532	SMDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322086.1	NM_033318	Missense_Mutation	14	63	0	0	0	1	0	14	63				
KNTC1	9735	broad.mit.edu	37	12	123089166	123089166	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:123089166A>G	ENST00000333479.7	+	49	5334	c.5157A>G	c.(5155-5157)ctA>ctG	p.L1719L	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Silent_p.L144L	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1719					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGAGATGGCTACAGAATATCC	0.343																																						ENST00000333479.7																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72						c.(5155-5157)ctA>ctG		kinetochore associated 1							79.0	71.0	74.0					12																	123089166		1815	4072	5887	SO:0001819	synonymous_variant	9735				cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	g.chr12:123089166A>G		CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.5157A>G	12.37:g.123089166A>G						KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Silent_p.L144L|KNTC1_ENST00000450485.2_Intron	p.L1719L	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)	49	5334	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1719					A7E2C4|B3KSG2	Silent	SNP	ENST00000333479.7	37	c.5157A>G	CCDS45002.1																																																																																				0.343	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2			14	49	0	0	0	1	0	14	49				
SCN2A	6326	broad.mit.edu	37	2	166164384	166164384	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:166164384C>T	ENST00000375437.2	+	4	703	c.413C>T	c.(412-414)aCg>aTg	p.T138M	SCN2A_ENST00000357398.3_Missense_Mutation_p.T138M|SCN2A_ENST00000283256.6_Missense_Mutation_p.T138M|SCN2A_ENST00000375427.2_Missense_Mutation_p.T138M	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	138					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTATGTGCACGATTCTTACC	0.353																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(412-414)aCg>aTg		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						186.0	191.0	189.0					2																	166164384		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166164384C>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.413C>T	2.37:g.166164384C>T	ENSP00000364586:p.Thr138Met					SCN2A_ENST00000283256.6_Missense_Mutation_p.T138M|SCN2A_ENST00000375427.2_Missense_Mutation_p.T138M|SCN2A_ENST00000357398.3_Missense_Mutation_p.T138M	p.T138M	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			4	703	+			138					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.413C>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835625	0.91117	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45	5.44	5.44	0.79542	.	0.169265	0.41938	D	0.000797	D	0.99102	0.9691	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99116	1.0848	10	0.87932	D	0	.	19.6212	0.95656	0.0:1.0:0.0:0.0	.	138;138	Q99250-2;Q99250	.;SCN2A_HUMAN	M	138	ENSP00000406454:T138M;ENSP00000364586:T138M;ENSP00000349973:T138M;ENSP00000283256:T138M;ENSP00000364576:T138M	ENSP00000283256:T138M	T	+	2	0	SCN2A	165872630	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.723000	0.93209	0.655000	0.94253	ACG		0.353	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		39	169	0	0	0	1	0	39	169				
TMPPE	643853	broad.mit.edu	37	3	33135624	33135624	+	Missense_Mutation	SNP	C	C	T	rs149442180		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:33135624C>T	ENST00000342462.4	-	2	254	c.64G>A	c.(64-66)Gtg>Atg	p.V22M	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000399402.3_Intron|TMPPE_ENST00000416695.2_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	22						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						ATCATGGACACGAAGACAGTG	0.597																																						ENST00000342462.4																			0				breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						c.(64-66)Gtg>Atg		transmembrane protein with metallophosphoesterase domain		C	,,,,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	67.0	63.0	64.0		,,,,64	-3.5	1.0	3	dbSNP_134	64	0,8600		0,0,4300	no	intron,intron,intron,intron,missense	GLB1,TMPPE	NM_000404.2,NM_001079811.1,NM_001135602.1,NM_001136238.1,NM_001039770.2	,,,,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,benign	,,,,22/454	33135624	1,13005	2203	4300	6503	SO:0001583	missense	643853					integral to membrane	metal ion binding	g.chr3:33135624C>T	AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.64G>A	3.37:g.33135624C>T	ENSP00000343398:p.Val22Met					GLB1_ENST00000307377.8_Intron|TMPPE_ENST00000416695.2_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000445488.2_Intron	p.V22M	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN			2	254	-			22					B2RNG5|Q6ZRG1	Missense_Mutation	SNP	ENST00000342462.4	37	c.64G>A	CCDS33732.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834079	0.32421	2.27E-4	0.0	ENSG00000188167	ENST00000342462	.	.	.	5.66	-3.54	0.04653	.	0.415449	0.16854	N	0.196807	T	0.14960	0.0361	N	0.19112	0.55	0.23260	N	0.99802	B	0.20164	0.042	B	0.09377	0.004	T	0.08617	-1.0713	9	0.48119	T	0.1	-0.885	0.3536	0.00353	0.1951:0.2572:0.2005:0.3471	.	22	Q6ZT21	TMPPE_HUMAN	M	22	.	ENSP00000343398:V22M	V	-	1	0	TMPPE	33110628	0.969000	0.33509	0.966000	0.40874	0.986000	0.74619	0.063000	0.14410	-0.490000	0.06707	0.561000	0.74099	GTG		0.597	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341566.1	NM_001039770		20	101	0	0	0	1	0	20	101				
IGSF22	283284	broad.mit.edu	37	11	18735645	18735645	+	Missense_Mutation	SNP	T	T	C	rs572679444		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18735645T>C	ENST00000513874.1	-	14	1988	c.1849A>G	c.(1849-1851)Atc>Gtc	p.I617V	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	617	Ig-like 4.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTCACAGTGATGGCGTGCGCA	0.612													t|||	1	0.000199681	0.0	0.0	5008	,	,		20471	0.001		0.0	False		,,,				2504	0.0					ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(1849-1851)Atc>Gtc		immunoglobulin superfamily, member 22							66.0	71.0	69.0					11																	18735645		2144	4234	6378	SO:0001583	missense	283284							g.chr11:18735645T>C	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1849A>G	11.37:g.18735645T>C	ENSP00000421191:p.Ile617Val					RP11-1081L13.4_ENST00000527285.1_RNA	p.I617V	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			14	1988	-			617			Ig-like 4.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.1849A>G	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	T	0	-2.677712	0.00102	.	.	ENSG00000179057	ENST00000513874	T	0.63096	-0.02	3.9	2.97	0.34412	.	0.605379	0.12414	N	0.471045	T	0.34978	0.0916	N	0.05534	-0.03	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19418	-1.0306	10	0.02654	T	1	.	9.1358	0.36872	0.0:0.8944:0.0:0.1056	.	617	D6RGV7	.	V	617	ENSP00000421191:I617V	ENSP00000322422:I617V	I	-	1	0	IGSF22	18692221	0.008000	0.16893	0.247000	0.24249	0.001000	0.01503	0.163000	0.16520	0.838000	0.34948	-0.490000	0.04691	ATC		0.612	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		35	101	0	0	0	1	0	35	101				
DOCK7	85440	broad.mit.edu	37	1	62962079	62962079	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:62962079A>G	ENST00000340370.5	-	37	4778	c.4761T>C	c.(4759-4761)cgT>cgC	p.R1587R	DOCK7_ENST00000251157.5_Silent_p.R1609R	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1618					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TCTTTAGAGAACGTCTTAAGA	0.373																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(4825-4827)cgT>cgC		dedicator of cytokinesis 7							94.0	94.0	94.0					1																	62962079		2203	4300	6503	SO:0001819	synonymous_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62962079A>G		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4761T>C	1.37:g.62962079A>G						DOCK7_ENST00000340370.5_Silent_p.R1587R	p.R1609R	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			38	4860	-			1618			DHR-2.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	c.4827T>C	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	A	9.827	1.187287	0.21870	.	.	ENSG00000116641	ENST00000454575	.	.	.	5.79	-2.33	0.06724	.	.	.	.	.	T	0.50905	0.1643	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44667	-0.9313	4	.	.	.	.	7.218	0.25971	0.3785:0.2259:0.3956:0.0	.	.	.	.	L	781	.	.	F	-	1	0	DOCK7	62734667	0.972000	0.33761	0.991000	0.47740	0.931000	0.56810	0.131000	0.15870	-0.344000	0.08338	0.477000	0.44152	TTC		0.373	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		13	51	0	0	0	1	0	13	51				
DENND4B	9909	broad.mit.edu	37	1	153909067	153909067	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:153909067T>C	ENST00000361217.4	-	16	2808	c.2390A>G	c.(2389-2391)tAc>tGc	p.Y797C		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	797					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)			CAGCACATGGTAGGCTGTGTG	0.627																																						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.(2389-2391)tAc>tGc		DENN/MADD domain containing 4B							52.0	54.0	53.0					1																	153909067		2106	4229	6335	SO:0001583	missense	9909							g.chr1:153909067T>C	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.2390A>G	1.37:g.153909067T>C	ENSP00000354597:p.Tyr797Cys						p.Y797C	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		16	2808	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		797					Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.2390A>G	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	t	14.47	2.545957	0.45280	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.09073	3.02;3.02	4.77	3.49	0.39957	.	0.069317	0.64402	N	0.000013	T	0.16896	0.0406	M	0.80332	2.49	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.00862	-1.1536	10	0.72032	D	0.01	-3.9674	9.2594	0.37603	0.0:0.096:0.0:0.904	.	797	O75064	DEN4B_HUMAN	C	797;808	ENSP00000354597:Y797C;ENSP00000357635:Y808C	ENSP00000354597:Y797C	Y	-	2	0	DENND4B	152175691	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	4.069000	0.57541	0.721000	0.32231	0.379000	0.24179	TAC		0.627	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		11	25	0	0	0	1	0	11	25				
MYT1L	23040	broad.mit.edu	37	2	1926967	1926967	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:1926967C>T	ENST00000399161.2	-	10	1321	c.574G>A	c.(574-576)Gac>Aac	p.D192N	MYT1L_ENST00000428368.2_Missense_Mutation_p.D192N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	192					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCATATTCGTCATTATTGTTA	0.383																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(574-576)Gac>Aac		myelin transcription factor 1-like							83.0	78.0	79.0					2																	1926967		1927	4139	6066	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926967C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.574G>A	2.37:g.1926967C>T	ENSP00000382114:p.Asp192Asn					MYT1L_ENST00000428368.2_Missense_Mutation_p.D192N	p.D192N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1321	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	192					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.574G>A		.	.	.	.	.	.	.	.	.	.	C	16.89	3.248690	0.59103	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.51325	0.71;0.71	5.93	5.93	0.95920	.	0.314863	0.37095	N	0.002247	T	0.44519	0.1297	L	0.27053	0.805	0.80722	D	1	B;B	0.30584	0.189;0.286	B;B	0.36289	0.11;0.221	T	0.35176	-0.9799	10	0.52906	T	0.07	-18.6057	20.3312	0.98718	0.0:1.0:0.0:0.0	.	192;192	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	N	192;140;192	ENSP00000382114:D192N;ENSP00000396103:D192N	ENSP00000295067:D140N	D	-	1	0	MYT1L	1905974	1.000000	0.71417	0.147000	0.22382	0.267000	0.26476	7.744000	0.85034	2.797000	0.96272	0.655000	0.94253	GAC		0.383	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		6	19	0	0	0	1	0	6	19				
HERC2	8924	broad.mit.edu	37	15	28420789	28420789	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:28420789A>G	ENST00000261609.7	-	64	9808	c.9700T>C	c.(9700-9702)Tac>Cac	p.Y3234H		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AATCTGAAGTAATCCCCCTTT	0.532																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(9700-9702)Tac>Cac		HECT and RLD domain containing E3 ubiquitin protein ligase 2							84.0	72.0	76.0					15																	28420789		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28420789A>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.9700T>C	15.37:g.28420789A>G	ENSP00000261609:p.Tyr3234His						p.Y3234H	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	64	9808	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3234						Missense_Mutation	SNP	ENST00000261609.7	37	c.9700T>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780478	0.49891	.	.	ENSG00000128731	ENST00000261609	D	0.85339	-1.97	4.87	3.72	0.42706	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.135964	0.50627	D	0.000106	T	0.80778	0.4688	L	0.52206	1.635	0.80722	D	1	B	0.12013	0.005	B	0.18263	0.021	T	0.75728	-0.3216	10	0.56958	D	0.05	.	11.0111	0.47663	0.8601:0.0:0.0:0.1399	.	3234	O95714	HERC2_HUMAN	H	3234	ENSP00000261609:Y3234H	ENSP00000261609:Y3234H	Y	-	1	0	HERC2	26094384	1.000000	0.71417	0.618000	0.29105	0.873000	0.50193	9.038000	0.93771	0.773000	0.33404	0.459000	0.35465	TAC		0.532	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		19	41	0	0	0	1	0	19	41				
GRID1	2894	broad.mit.edu	37	10	87379725	87379725	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:87379725A>G	ENST00000327946.7	-	14	2344	c.2259T>C	c.(2257-2259)gaT>gaC	p.D753D	GRID1_ENST00000536331.1_Silent_p.D324D	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	753					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						AGCAGTCGTCATCCGTCAGGG	0.562										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2257-2259)gaT>gaC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						139.0	99.0	112.0					10																	87379725		2203	4300	6503	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87379725A>G	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2259T>C	10.37:g.87379725A>G		Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Silent_p.D324D	p.D753D	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			14	2344	-			753					B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.2259T>C	CCDS31236.1																																																																																				0.562	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		20	59	0	0	0	1	0	20	59				
MTG2	26164	broad.mit.edu	37	20	60774252	60774252	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:60774252G>A	ENST00000370823.3	+	6	783	c.765G>A	c.(763-765)ccG>ccA	p.P255P	MTG2_ENST00000536470.1_Silent_p.P27P|MTG2_ENST00000436421.2_Intron	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	255	Localized in the mitochondria.|Not localized in the mitochondria.|OBG-type G.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										CTTCCTACCCGTTCACCACCC	0.562																																						ENST00000370823.3																			0											c.(763-765)ccG>ccA		mitochondrial ribosome-associated GTPase 2							55.0	56.0	56.0					20																	60774252		2203	4300	6503	SO:0001819	synonymous_variant	26164							g.chr20:60774252G>A	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.765G>A	20.37:g.60774252G>A						MTG2_ENST00000436421.2_Intron|MTG2_ENST00000536470.1_Silent_p.P27P	p.P255P	NM_015666.3	NP_056481.1					6	783	+								A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Silent	SNP	ENST00000370823.3	37	c.765G>A	CCDS13492.1																																																																																				0.562	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		19	39	0	0	0	1	0	19	39				
NRIP1	8204	broad.mit.edu	37	21	16338609	16338609	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:16338609T>C	ENST00000400202.1	-	3	2617	c.1905A>G	c.(1903-1905)gcA>gcG	p.A635A	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Silent_p.A635A|NRIP1_ENST00000318948.4_Silent_p.A635A			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	635	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTCCACATTGTGCTAAATTTT	0.428																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(1903-1905)gcA>gcG		nuclear receptor interacting protein 1							164.0	165.0	165.0					21																	16338609		2203	4300	6503	SO:0001819	synonymous_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16338609T>C	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1905A>G	21.37:g.16338609T>C						NRIP1_ENST00000400199.1_Silent_p.A635A|NRIP1_ENST00000318948.4_Silent_p.A635A	p.A635A			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	2617	-			635			Repression domain 2.		Q8IWE8	Silent	SNP	ENST00000400202.1	37	c.1905A>G	CCDS13568.1																																																																																				0.428	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		33	95	0	0	0	1	0	33	95				
OPRL1	4987	broad.mit.edu	37	20	62729402	62729402	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:62729402G>A	ENST00000349451.3	+	5	893	c.481G>A	c.(481-483)Gtc>Atc	p.V161I	OPRL1_ENST00000336866.2_Missense_Mutation_p.V161I|OPRL1_ENST00000355631.4_Missense_Mutation_p.V161I	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	161					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGCCCTCGACGTCCGCACGTC	0.587																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(481-483)Gtc>Atc		opiate receptor-like 1							145.0	125.0	131.0					20																	62729402		2203	4300	6503	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729402G>A		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.481G>A	20.37:g.62729402G>A	ENSP00000336764:p.Val161Ile					OPRL1_ENST00000336866.2_Missense_Mutation_p.V161I|OPRL1_ENST00000355631.4_Missense_Mutation_p.V161I	p.V161I	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			5	893	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		161					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.481G>A	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	G	9.514	1.106541	0.20714	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.71698	-0.59;-0.59;-0.59	5.05	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.100100	0.64402	D	0.000003	T	0.44371	0.1290	N	0.05487	-0.04	0.33206	D	0.552794	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.45026	-0.9289	10	0.45353	T	0.12	.	4.2182	0.10545	0.52:0.0:0.48:0.0	.	156;161	P41146-2;P41146	.;OPRX_HUMAN	I	161	ENSP00000336843:V161I;ENSP00000347848:V161I;ENSP00000336764:V161I	ENSP00000336843:V161I	V	+	1	0	OPRL1	62199846	0.974000	0.33945	0.820000	0.32676	0.077000	0.17291	2.060000	0.41394	1.140000	0.42260	0.551000	0.68910	GTC		0.587	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		33	94	0	0	0	1	0	33	94				
GGA1	26088	broad.mit.edu	37	22	38026098	38026098	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:38026098A>G	ENST00000343632.4	+	13	1638	c.1252A>G	c.(1252-1254)Agc>Ggc	p.S418G	GGA1_ENST00000381756.5_Missense_Mutation_p.S435G|GGA1_ENST00000325180.8_Missense_Mutation_p.S331G|GGA1_ENST00000337437.4_Missense_Mutation_p.S385G|GGA1_ENST00000406772.1_Missense_Mutation_p.S345G	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	418	Unstructured hinge.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GCCAGCAAGCAGCGGTCTGGA	0.682																																						ENST00000406772.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(1033-1035)Agc>Ggc		golgi-associated, gamma adaptin ear containing, ARF binding protein 1							56.0	59.0	58.0					22																	38026098		2203	4300	6503	SO:0001583	missense	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38026098A>G	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.1252A>G	22.37:g.38026098A>G	ENSP00000341344:p.Ser418Gly					GGA1_ENST00000343632.4_Missense_Mutation_p.S418G|GGA1_ENST00000337437.4_Missense_Mutation_p.S385G|GGA1_ENST00000325180.8_Missense_Mutation_p.S331G|GGA1_ENST00000381756.5_Missense_Mutation_p.S435G	p.S345G	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN			14	1685	+	Melanoma(58;0.0574)		418			Unstructured hinge.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	c.1033A>G	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.379983	0.42207	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000325180;ENST00000337437;ENST00000406772	T;T;T;T;T	0.33865	2.44;2.16;2.39;1.39;1.45	5.85	5.85	0.93711	.	1.175080	0.05943	N	0.637301	T	0.46521	0.1397	M	0.75447	2.3	0.80722	D	1	B;B;B	0.14012	0.009;0.003;0.005	B;B;B	0.13407	0.009;0.004;0.006	T	0.30268	-0.9984	10	0.24483	T	0.36	-12.6318	16.2285	0.82315	1.0:0.0:0.0:0.0	.	435;331;418	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	G	418;435;331;385;345	ENSP00000341344:S418G;ENSP00000371175:S435G;ENSP00000321288:S331G;ENSP00000338647:S385G;ENSP00000385287:S345G	ENSP00000321288:S331G	S	+	1	0	GGA1	36356044	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	4.313000	0.59160	2.236000	0.73375	0.533000	0.62120	AGC		0.682	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		32	108	0	0	0	1	0	32	108				
GTF3C3	9330	broad.mit.edu	37	2	197639891	197639891	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:197639891C>G	ENST00000263956.3	-	13	1869	c.1780G>C	c.(1780-1782)Gac>Cac	p.D594H		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	594					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GATATTTTGTCTCTCGATACT	0.338																																						ENST00000263956.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1780-1782)Gac>Cac		general transcription factor IIIC, polypeptide 3, 102kDa							113.0	108.0	110.0					2																	197639891		2203	4300	6503	SO:0001583	missense	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197639891C>G	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1780G>C	2.37:g.197639891C>G	ENSP00000263956:p.Asp594His						p.D594H	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			13	1869	-			594					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	c.1780G>C	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495043	0.64186	.	.	ENSG00000119041	ENST00000263956;ENST00000435252	T	0.46451	0.87	5.2	5.2	0.72013	.	0.200300	0.44688	D	0.000440	T	0.30696	0.0773	N	0.14661	0.345	0.80722	D	1	B	0.25169	0.119	B	0.32465	0.146	T	0.10660	-1.0620	10	0.37606	T	0.19	-19.8187	14.2415	0.65959	0.0:0.9264:0.0:0.0736	.	594	Q9Y5Q9	TF3C3_HUMAN	H	594;117	ENSP00000263956:D594H	ENSP00000263956:D594H	D	-	1	0	GTF3C3	197348136	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.194000	0.51005	2.699000	0.92147	0.655000	0.94253	GAC		0.338	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			12	48	0	0	0	1	0	12	48				
GPATCH1	55094	broad.mit.edu	37	19	33604771	33604771	+	Missense_Mutation	SNP	C	C	T	rs139888183		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:33604771C>T	ENST00000170564.2	+	14	2305	c.1991C>T	c.(1990-1992)gCa>gTa	p.A664V		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	664					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					ACCACTCAAGCATCAAGTGAA	0.527																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(1990-1992)gCa>gTa		G patch domain containing 1							75.0	70.0	72.0					19																	33604771		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33604771C>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1991C>T	19.37:g.33604771C>T	ENSP00000170564:p.Ala664Val						p.A664V	NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			14	2305	+	Esophageal squamous(110;0.137)		664					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.1991C>T	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	C	2.025	-0.423744	0.04734	.	.	ENSG00000076650	ENST00000170564	T	0.24151	1.87	5.86	-0.575	0.11734	.	0.828718	0.11391	N	0.568804	T	0.07007	0.0178	N	0.02011	-0.69	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.003	T	0.32241	-0.9914	10	0.24483	T	0.36	-0.6345	0.8916	0.01255	0.3321:0.3057:0.1111:0.2511	.	664;664	B2RDX4;Q9BRR8	.;GPTC1_HUMAN	V	664	ENSP00000170564:A664V	ENSP00000170564:A664V	A	+	2	0	GPATCH1	38296611	0.455000	0.25736	0.000000	0.03702	0.009000	0.06853	0.014000	0.13333	0.082000	0.17018	0.591000	0.81541	GCA		0.527	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		9	43	0	0	0	1	0	9	43				
PRKCD	5580	broad.mit.edu	37	3	53213631	53213631	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:53213631T>C	ENST00000394729.2	+	3	482	c.154T>C	c.(154-156)Tat>Cat	p.Y52H	PRKCD_ENST00000330452.3_Missense_Mutation_p.Y52H	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	52	C2.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GCCGACCATGTATCCTGAGTG	0.582																																						ENST00000394729.2																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(154-156)Tat>Cat		protein kinase C, delta							90.0	78.0	82.0					3																	53213631		2203	4300	6503	SO:0001583	missense	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53213631T>C		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.154T>C	3.37:g.53213631T>C	ENSP00000378217:p.Tyr52His					PRKCD_ENST00000330452.3_Missense_Mutation_p.Y52H	p.Y52H	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	3	482	+		Ovarian(412;0.0728)	52			C2.		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	c.154T>C	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.066645	0.76301	.	.	ENSG00000163932	ENST00000478843;ENST00000394729;ENST00000330452;ENST00000487897;ENST00000464818	T;T;D	0.83335	-0.42;-0.42;-1.71	4.97	4.97	0.65823	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.87657	0.6232	M	0.67953	2.075	0.80722	D	1	D;B	0.69078	0.997;0.175	D;B	0.64042	0.921;0.077	D	0.84982	0.0889	10	0.17369	T	0.5	.	13.7736	0.63039	0.0:0.0:0.0:1.0	.	52;52	C9K0E3;Q05655	.;KPCD_HUMAN	H	52	ENSP00000378217:Y52H;ENSP00000331602:Y52H;ENSP00000419629:Y52H	ENSP00000331602:Y52H	Y	+	1	0	PRKCD	53188671	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	6.127000	0.71642	2.085000	0.62840	0.533000	0.62120	TAT		0.582	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			11	20	0	0	0	1	0	11	20				
DHX37	57647	broad.mit.edu	37	12	125434989	125434989	+	Missense_Mutation	SNP	G	G	A	rs376946837		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:125434989G>A	ENST00000308736.2	-	23	3189	c.3091C>T	c.(3091-3093)Cgg>Tgg	p.R1031W	DHX37_ENST00000544745.1_Missense_Mutation_p.R818W	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1031							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CACAGCACCCGCCCCCGCTCG	0.657																																						ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(3091-3093)Cgg>Tgg		DEAH (Asp-Glu-Ala-His) box polypeptide 37		G	TRP/ARG	0,4400		0,0,2200	23.0	24.0	24.0		3091	5.1	0.5	12		24	1,8597		0,1,4298	no	missense	DHX37	NM_032656.3	101	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1031/1158	125434989	1,12997	2200	4299	6499	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125434989G>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.3091C>T	12.37:g.125434989G>A	ENSP00000311135:p.Arg1031Trp					DHX37_ENST00000544745.1_Missense_Mutation_p.R818W	p.R1031W	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	23	3189	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1031					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.3091C>T	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866819	0.51588	0.0	1.16E-4	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03413	4.01;3.94	5.07	5.07	0.68467	.	0.149951	0.53938	D	0.000059	T	0.17789	0.0427	M	0.85299	2.745	0.47245	D	0.999366	D;D	0.71674	0.998;0.998	P;P	0.56916	0.809;0.623	T	0.01367	-1.1373	10	0.51188	T	0.08	12.7338	18.4511	0.90704	0.0:0.0:1.0:0.0	.	818;1031	F5H3Y4;Q8IY37	.;DHX37_HUMAN	W	1031;818	ENSP00000311135:R1031W;ENSP00000439009:R818W	ENSP00000311135:R1031W	R	-	1	2	DHX37	124000942	1.000000	0.71417	0.533000	0.28001	0.017000	0.09413	1.670000	0.37502	2.360000	0.80028	0.555000	0.69702	CGG		0.657	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		8	50	0	0	0	1	0	8	50				
RIMBP3	85376	broad.mit.edu	37	22	20457913	20457913	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:20457913G>A	ENST00000426804.1	-	1	3873	c.3389C>T	c.(3388-3390)gCa>gTa	p.A1130V	SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA17_ENST00000516762.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1130	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AAGCCCATCTGCATACACAGC	0.582																																						ENST00000426804.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(3388-3390)gCa>gTa		RIMS binding protein 3							21.0	28.0	26.0					22																	20457913		1615	3522	5137	SO:0001583	missense	85376							g.chr22:20457913G>A	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3389C>T	22.37:g.20457913G>A	ENSP00000391564:p.Ala1130Val						p.A1130V	NM_015672.1	NP_056487.1			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	3873	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.3389C>T	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088538	0.36855	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.52526	0.66	3.42	1.27	0.21489	Fibronectin, type III (2);	0.145890	0.44902	N	0.000416	T	0.51856	0.1699	M	0.87682	2.9	0.41325	D	0.987207	D	0.58268	0.982	P	0.46543	0.52	T	0.55405	-0.8146	10	0.44086	T	0.13	-2.6419	6.7771	0.23626	0.2673:0.0:0.7327:0.0	.	1036	Q9UFD9	RIM3A_HUMAN	V	1036;1130	ENSP00000391564:A1130V	ENSP00000347318:A1036V	A	-	2	0	RIMBP3	18837913	0.999000	0.42202	0.943000	0.38184	0.832000	0.47134	2.874000	0.48483	0.752000	0.32923	0.184000	0.17185	GCA		0.582	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		5	32	0	0	0	1	0	5	32				
CENPV	201161	broad.mit.edu	37	17	16256481	16256481	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:16256481C>T	ENST00000299736.4	-	1	332	c.270G>A	c.(268-270)ccG>ccA	p.P90P	CENPV_ENST00000476243.1_5'UTR	NM_181716.2	NP_859067.2	Q7Z7K6	CENPV_HUMAN	centromere protein V	93	Pro-rich.				ameboidal cell migration (GO:0001667)|centromere complex assembly (GO:0034508)|mitotic nuclear division (GO:0007067)|pericentric heterochromatin assembly (GO:0031508)|positive regulation of cytokinesis (GO:0032467)|regulation of chromosome organization (GO:0033044)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	carbon-sulfur lyase activity (GO:0016846)			endometrium(1)|large_intestine(2)	3						gcggcggcggcggcggtggcg	0.776																																						ENST00000299736.4																			0				endometrium(1)|large_intestine(2)	3						c.(268-270)ccG>ccA		centromere protein V							4.0	5.0	5.0					17																	16256481		1951	3810	5761	SO:0001819	synonymous_variant	201161				cell division|centromeric heterochromatin formation|mitosis|positive regulation of cytokinesis|regulation of chromosome organization	condensed chromosome kinetochore|cytoplasm|nucleus|spindle midzone	carbon-sulfur lyase activity	g.chr17:16256481C>T	AF514992	CCDS32575.1	17p11.2	2013-11-05	2008-10-29	2008-10-29	ENSG00000166582	ENSG00000166582			29920	protein-coding gene	gene with protein product		608139	"""proline rich 6"""	PRR6		12196509, 18772885	Standard	NM_181716		Approved	p30, CENP-V	uc002gpw.3	Q7Z7K6	OTTHUMG00000059345	ENST00000299736.4:c.270G>A	17.37:g.16256481C>T						CENPV_ENST00000476243.1_5'UTR	p.P90P	NM_181716.2	NP_859067.2	Q7Z7K6	CENPV_HUMAN			1	332	-			93			Pro-rich.		B2RPK2|Q3L8N5|Q8NFH6	Silent	SNP	ENST00000299736.4	37	c.270G>A	CCDS32575.1																																																																																				0.776	CENPV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131877.1	NM_181716		5	12	0	0	0	1	0	5	12				
HK3	3101	broad.mit.edu	37	5	176316708	176316708	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:176316708G>A	ENST00000292432.5	-	7	759	c.668C>T	c.(667-669)aCa>aTa	p.T223I		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	223	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGCCCACTGTGTCGTTCAC	0.592																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(667-669)aCa>aTa		hexokinase 3 (white cell)							189.0	154.0	166.0					5																	176316708		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176316708G>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.668C>T	5.37:g.176316708G>A	ENSP00000292432:p.Thr223Ile						p.T223I	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	759	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	223			Regulatory.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.668C>T	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053701	0.93793	.	.	ENSG00000160883	ENST00000292432	D	0.99532	-6.1	5.56	5.56	0.83823	Hexokinase, N-terminal (1);	0.110120	0.41097	D	0.000952	D	0.99746	0.9899	M	0.93507	3.425	0.45704	D	0.998617	D	0.89917	1.0	D	0.97110	1.0	D	0.97453	1.0029	10	0.87932	D	0	-10.3196	19.1303	0.93402	0.0:0.0:1.0:0.0	.	223	P52790	HXK3_HUMAN	I	223	ENSP00000292432:T223I	ENSP00000292432:T223I	T	-	2	0	HK3	176249314	1.000000	0.71417	0.982000	0.44146	0.931000	0.56810	9.209000	0.95087	2.624000	0.88883	0.462000	0.41574	ACA		0.592	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			5	97	0	0	0	1	0	5	97				
TPCN2	219931	broad.mit.edu	37	11	68822243	68822243	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:68822243T>C	ENST00000294309.3	+	3	330	c.229T>C	c.(229-231)Tat>Cat	p.Y77H	TPCN2_ENST00000542467.1_Missense_Mutation_p.Y77H	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	77					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTACCGACGGTATTACTCGAA	0.592																																						ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(229-231)Tat>Cat		two pore segment channel 2							135.0	87.0	103.0					11																	68822243		2200	4294	6494	SO:0001583	missense	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68822243T>C	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.229T>C	11.37:g.68822243T>C	ENSP00000294309:p.Tyr77His					TPCN2_ENST00000542467.1_Missense_Mutation_p.Y77H	p.Y77H	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	330	+			77					Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	c.229T>C	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.522574	0.64747	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000542467	D;D	0.97529	-4.37;-4.42	4.65	3.49	0.39957	.	0.000000	0.85682	D	0.000000	D	0.97642	0.9227	M	0.72894	2.215	0.53005	D	0.999968	D;D	0.89917	1.0;0.994	D;P	0.83275	0.996;0.845	D	0.96665	0.9492	10	0.37606	T	0.19	-18.0121	10.57	0.45194	0.0:0.0832:0.0:0.9168	.	77;77	E7ETX0;Q8NHX9	.;TPC2_HUMAN	H	7;77;77	ENSP00000294309:Y77H;ENSP00000445551:Y77H	ENSP00000294309:Y77H	Y	+	1	0	TPCN2	68578819	1.000000	0.71417	0.964000	0.40570	0.557000	0.35523	4.745000	0.62125	1.863000	0.54032	0.379000	0.24179	TAT		0.592	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		8	28	0	0	0	1	0	8	28				
USH2A	7399	broad.mit.edu	37	1	216498739	216498739	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:216498739C>A	ENST00000307340.3	-	6	1437	c.1051G>T	c.(1051-1053)Ggt>Tgt	p.G351C	USH2A_ENST00000366942.3_Missense_Mutation_p.G351C|USH2A_ENST00000366943.2_Missense_Mutation_p.G351C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	351	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATGAAGTACCAACATCATTA	0.388										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(1051-1053)Ggt>Tgt		Usher syndrome 2A (autosomal recessive, mild)							121.0	109.0	113.0					1																	216498739		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216498739C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1051G>T	1.37:g.216498739C>A	ENSP00000305941:p.Gly351Cys	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.G351C|USH2A_ENST00000366942.3_Missense_Mutation_p.G351C	p.G351C			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	6	1437	-			351			Laminin N-terminal.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1051G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.540838	0.27563	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.81163	-1.46;-1.46;-1.46	5.36	2.5	0.30297	Laminin, N-terminal (3);	0.324438	0.21762	N	0.069484	D	0.87533	0.6201	M	0.78916	2.43	0.09310	N	0.999991	D;D	0.76494	0.999;0.997	D;D	0.68353	0.957;0.911	T	0.79349	-0.1840	10	0.72032	D	0.01	.	10.662	0.45708	0.0:0.7919:0.0:0.2081	.	351;351	O75445-2;O75445	.;USH2A_HUMAN	C	351	ENSP00000305941:G351C;ENSP00000355910:G351C;ENSP00000355909:G351C	ENSP00000305941:G351C	G	-	1	0	USH2A	214565362	1.000000	0.71417	0.000000	0.03702	0.106000	0.19336	3.139000	0.50577	0.262000	0.21774	-0.157000	0.13467	GGT		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		16	76	1	0	1.02788e-11	1	1.06863e-11	16	76				
LYRM4	57128	broad.mit.edu	37	6	5109669	5109669	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:5109669C>T	ENST00000330636.4	-	3	469	c.264G>A	c.(262-264)atG>atA	p.M88I	LYRM4_ENST00000464010.1_3'UTR|LYRM4_ENST00000606472.1_5'Flank|LYRM4_ENST00000468929.1_3'UTR	NM_020408.4	NP_065141.3	Q9HD34	LYRM4_HUMAN	LYR motif containing 4	88					small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)				endometrium(1)	1	Ovarian(93;0.11)	all_hematologic(90;0.0901)				AGGTCCTGGGCATGTCTCGAT	0.552																																					NSCLC(130;1006 2426 17608 36797)	ENST00000330636.4																			0				endometrium(1)	1						c.(262-264)atG>atA		LYR motif containing 4							133.0	126.0	129.0					6																	5109669		2203	4300	6503	SO:0001583	missense	57128					mitochondrion|nucleus		g.chr6:5109669C>T	AF258559	CCDS4493.1, CCDS54961.1	6p25.1	2008-02-05	2006-09-19	2006-09-19	ENSG00000214113	ENSG00000214113		"""LYR motif containing"""	21365	protein-coding gene	gene with protein product		613311	"""chromosome 6 open reading frame 149"""	C6orf149			Standard	XM_005249239		Approved	CGI-203, ISD11	uc021ykw.1	Q9HD34	OTTHUMG00000014173	ENST00000330636.4:c.264G>A	6.37:g.5109669C>T	ENSP00000418787:p.Met88Ile					LYRM4_ENST00000464010.1_3'UTR|LYRM4_ENST00000468929.1_3'UTR	p.M88I	NM_020408.4	NP_065141.3	Q9HD34	LYRM4_HUMAN			3	469	-	Ovarian(93;0.11)	all_hematologic(90;0.0901)	88					A8K543|Q5XKP1	Missense_Mutation	SNP	ENST00000330636.4	37	c.264G>A	CCDS4493.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129679	0.37630	.	.	ENSG00000214113	ENST00000330636	T	0.40756	1.02	5.42	2.66	0.31614	.	.	.	.	.	T	0.13586	0.0329	.	.	.	0.58432	D	0.999999	B	0.14012	0.009	B	0.10450	0.005	T	0.05649	-1.0872	8	0.39692	T	0.17	.	5.1765	0.15137	0.1633:0.663:0.0:0.1736	.	88	Q9HD34	LYRM4_HUMAN	I	88	ENSP00000418787:M88I	ENSP00000418787:M88I	M	-	3	0	LYRM4	5054668	0.693000	0.27728	0.950000	0.38849	0.919000	0.55068	0.082000	0.14847	0.252000	0.21531	0.655000	0.94253	ATG		0.552	LYRM4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353461.3	NM_020408		7	198	0	0	0	1	0	7	198				
ZFHX3	463	broad.mit.edu	37	16	72829090	72829090	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:72829090C>T	ENST00000268489.5	-	9	8163	c.7491G>A	c.(7489-7491)tcG>tcA	p.S2497S	ZFHX3_ENST00000397992.5_Silent_p.S1583S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2497					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GACTGGGGCTCGACTGGGGTA	0.632																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(7489-7491)tcG>tcA		zinc finger homeobox 3							62.0	64.0	63.0					16																	72829090		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72829090C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7491G>A	16.37:g.72829090C>T						ZFHX3_ENST00000397992.5_Silent_p.S1583S	p.S2497S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	8163	-		Ovarian(137;0.13)	2497					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.7491G>A	CCDS10908.1																																																																																				0.632	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		25	73	0	0	0	1	0	25	73				
EPS8L1	54869	broad.mit.edu	37	19	55593505	55593505	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:55593505A>G	ENST00000201647.6	+	10	1003	c.947A>G	c.(946-948)tAc>tGc	p.Y316C	EPS8L1_ENST00000586329.1_Missense_Mutation_p.Y298C|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_Missense_Mutation_p.Y252C|EPS8L1_ENST00000245618.5_Missense_Mutation_p.Y189C|EPS8L1_ENST00000588359.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	316					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GAGGCCGAGTACACCGACGTG	0.731																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(946-948)tAc>tGc		EPS8-like 1							14.0	16.0	15.0					19																	55593505		2192	4287	6479	SO:0001583	missense	54869					cytoplasm		g.chr19:55593505A>G	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.947A>G	19.37:g.55593505A>G	ENSP00000201647:p.Tyr316Cys					EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000245618.5_Missense_Mutation_p.Y189C|EPS8L1_ENST00000586329.1_Missense_Mutation_p.Y298C|EPS8L1_ENST00000540810.1_Missense_Mutation_p.Y252C|EPS8L1_ENST00000592824.1_3'UTR	p.Y316C	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	10	1003	+			316					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.947A>G	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.381028	0.61845	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618	T;T;T	0.54479	0.57;0.57;0.57	3.42	2.38	0.29361	.	0.225451	0.38663	N	0.001605	T	0.67692	0.2920	M	0.78456	2.415	0.42985	D	0.994474	P;D;D;D;D	0.89917	0.947;1.0;1.0;0.999;0.999	P;D;D;D;D	0.76071	0.541;0.987;0.973;0.982;0.924	T	0.67492	-0.5657	10	0.87932	D	0	-11.945	7.4102	0.27014	0.806:0.0:0.0:0.194	.	252;298;63;189;316	B4DKV7;Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68	.;.;.;.;ES8L1_HUMAN	C	298;316;252;189	ENSP00000201647:Y316C;ENSP00000437541:Y252C;ENSP00000245618:Y189C	ENSP00000201647:Y316C	Y	+	2	0	EPS8L1	60285317	0.995000	0.38212	0.990000	0.47175	0.842000	0.47809	2.823000	0.48081	0.499000	0.27970	0.402000	0.26972	TAC		0.731	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		6	18	0	0	0	1	0	6	18				
CHST3	9469	broad.mit.edu	37	10	73767557	73767557	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:73767557C>T	ENST00000373115.4	+	3	1205	c.768C>T	c.(766-768)aaC>aaT	p.N256N		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	256					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						GCCCCCTCAACGTGACGCTGG	0.682																																						ENST00000373115.4																			0				endometrium(1)|lung(5)	6						c.(766-768)aaC>aaT		carbohydrate (chondroitin 6) sulfotransferase 3							11.0	12.0	12.0					10																	73767557		1991	3941	5932	SO:0001819	synonymous_variant	9469				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	g.chr10:73767557C>T	AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.768C>T	10.37:g.73767557C>T							p.N256N	NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN			3	1205	+			256					O75099|Q52M30	Silent	SNP	ENST00000373115.4	37	c.768C>T	CCDS7312.1																																																																																				0.682	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048563.1	NM_004273		8	18	0	0	0	1	0	8	18				
ELMO1	9844	broad.mit.edu	37	7	36934500	36934500	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:36934500G>A	ENST00000310758.4	-	17	2207	c.1560C>T	c.(1558-1560)tcC>tcT	p.S520S	ELMO1_ENST00000442504.1_Silent_p.S520S|ELMO1_ENST00000341056.3_Silent_p.S222S|ELMO1_ENST00000396045.3_Silent_p.S40S|ELMO1_ENST00000396040.2_Silent_p.S40S|ELMO1_ENST00000448602.1_Silent_p.S520S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	520					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.S520S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCATCCTCTCGGACTGGCGGA	0.463																																						ENST00000310758.4																			1	Substitution - coding silent(1)	p.S520S(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1558-1560)tcC>tcT		engulfment and cell motility 1							168.0	152.0	157.0					7																	36934500		2203	4300	6503	SO:0001819	synonymous_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36934500G>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1560C>T	7.37:g.36934500G>A						ELMO1_ENST00000341056.3_Silent_p.S222S|ELMO1_ENST00000396045.3_Silent_p.S40S|ELMO1_ENST00000448602.1_Silent_p.S520S|ELMO1_ENST00000396040.2_Silent_p.S40S|ELMO1_ENST00000442504.1_Silent_p.S520S	p.S520S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			17	2207	-			520					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	c.1560C>T	CCDS5449.1																																																																																				0.463	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		24	64	0	0	0	1	0	24	64				
PCDHA7	56141	broad.mit.edu	37	5	140214061	140214061	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140214061C>T	ENST00000525929.1	+	1	93	c.93C>T	c.(91-93)ctC>ctT	p.L31L	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.L31L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	31	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGCCAGCTCCACTACTCGG	0.597																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(91-93)ctC>ctT									53.0	66.0	61.0					5																	140214061		2203	4300	6503	SO:0001819	synonymous_variant	56141							g.chr5:140214061C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.93C>T	5.37:g.140214061C>T						PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.L31L|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.L31L	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	93	+								O75282	Silent	SNP	ENST00000525929.1	37	c.93C>T	CCDS54918.1																																																																																				0.597	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		40	125	0	0	0	1	0	40	125				
LETM1	3954	broad.mit.edu	37	4	1818499	1818499	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:1818499T>C	ENST00000302787.2	-	12	2182	c.1886A>G	c.(1885-1887)gAc>gGc	p.D629G		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	629					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			AGCCTGCTGGTCCATCTCCAG	0.592																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1885-1887)gAc>gGc		leucine zipper-EF-hand containing transmembrane protein 1							104.0	85.0	92.0					4																	1818499		2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1818499T>C	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1886A>G	4.37:g.1818499T>C	ENSP00000305653:p.Asp629Gly						p.D629G	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		12	2182	-			629					B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.1886A>G	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	t	12.85	2.060202	0.36373	.	.	ENSG00000168924	ENST00000302787	.	.	.	5.04	-7.64	0.01286	.	0.490245	0.22961	N	0.053555	T	0.32436	0.0829	L	0.59436	1.845	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.08806	-1.0704	9	0.44086	T	0.13	-0.0133	6.7427	0.23445	0.0:0.3144:0.2177:0.4679	.	629	O95202	LETM1_HUMAN	G	629	.	ENSP00000305653:D629G	D	-	2	0	LETM1	1788297	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	0.293000	0.19029	-1.554000	0.01700	-0.899000	0.02877	GAC		0.592	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			30	82	0	0	0	1	0	30	82				
HSPA2	3306	broad.mit.edu	37	14	65007834	65007834	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:65007834A>G	ENST00000394709.1	+	2	343	c.267A>G	c.(265-267)aaA>aaG	p.K89K	HSPA2_ENST00000247207.6_Silent_p.K89K|HSPA2_ENST00000554883.1_Intron|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	89					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CGGATATGAAACACTGGCCGT	0.557																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(265-267)aaA>aaG		heat shock 70kDa protein 2							97.0	81.0	87.0					14																	65007834		2203	4300	6503	SO:0001819	synonymous_variant	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65007834A>G	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.267A>G	14.37:g.65007834A>G						HSPA2_ENST00000554883.1_Intron|HSPA2_ENST00000394709.1_Silent_p.K89K	p.K89K	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	649	+			89					Q15508|Q53XM3|Q9UE78	Silent	SNP	ENST00000394709.1	37	c.267A>G	CCDS9766.1																																																																																				0.557	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			18	55	0	0	0	1	0	18	55				
FAM89A	375061	broad.mit.edu	37	1	231155818	231155818	+	Missense_Mutation	SNP	C	C	T	rs201780778	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:231155818C>T	ENST00000366654.4	-	2	380	c.346G>A	c.(346-348)Gag>Aag	p.E116K	MIR1182_ENST00000408363.1_RNA|FAM89A_ENST00000494111.1_5'UTR	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A	116										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TGAATCGACTCGTAGAGGCTG	0.547																																						ENST00000366654.4																			0				endometrium(1)|upper_aerodigestive_tract(1)	2						c.(346-348)Gag>Aag		family with sequence similarity 89, member A							68.0	64.0	66.0					1																	231155818		2203	4300	6503	SO:0001583	missense	375061							g.chr1:231155818C>T	BC009447	CCDS1590.1	1q42.2	2008-02-05	2005-09-13	2005-09-13	ENSG00000182118	ENSG00000182118			25057	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 153"""	C1orf153		12477932	Standard	NM_198552		Approved	MGC15887	uc001hui.2	Q96GI7	OTTHUMG00000037960	ENST00000366654.4:c.346G>A	1.37:g.231155818C>T	ENSP00000355614:p.Glu116Lys					FAM89A_ENST00000494111.1_5'UTR	p.E116K	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN			2	380	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	116						Missense_Mutation	SNP	ENST00000366654.4	37	c.346G>A	CCDS1590.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389180	0.95988	.	.	ENSG00000182118	ENST00000366654	.	.	.	5.76	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.78991	0.4371	M	0.79123	2.44	0.80722	D	1	D	0.76494	0.999	D	0.65773	0.938	T	0.82829	-0.0264	9	0.87932	D	0	-13.654	17.2042	0.86914	0.0:0.8739:0.126:0.0	.	116	Q96GI7	FA89A_HUMAN	K	116	.	ENSP00000355614:E116K	E	-	1	0	FAM89A	229222441	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.017000	0.70805	1.551000	0.49450	0.650000	0.86243	GAG		0.547	FAM89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092652.1	NM_198552		22	55	0	0	0	1	0	22	55				
TIAM1	7074	broad.mit.edu	37	21	32595759	32595759	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:32595759C>T	ENST00000286827.3	-	9	2429	c.1958G>A	c.(1957-1959)cGc>cAc	p.R653H	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.R653H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	653					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R653H(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GATTCCAAGGCGGCCCATGGC	0.483																																						ENST00000286827.3																			2	Substitution - Missense(2)	p.R653H(2)	large_intestine(2)	autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(1957-1959)cGc>cAc		T-cell lymphoma invasion and metastasis 1							85.0	88.0	87.0					21																	32595759		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32595759C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1958G>A	21.37:g.32595759C>T	ENSP00000286827:p.Arg653His					TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.R653H	p.R653H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			9	2429	-			653					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.1958G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	35	5.506908	0.96386	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.59502	0.26;0.32	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.72078	0.3416	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	P;P;P;P	0.60886	0.88;0.761;0.856;0.761	T	0.76547	-0.2919	10	0.87932	D	0	.	17.7573	0.88453	0.0:1.0:0.0:0.0	.	653;653;494;653	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	H	653;494;653	ENSP00000286827:R653H;ENSP00000441570:R653H	ENSP00000286827:R653H	R	-	2	0	TIAM1	31517630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.551000	0.82182	2.496000	0.84212	0.655000	0.94253	CGC		0.483	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		12	128	0	0	0	1	0	12	128				
UCP3	7352	broad.mit.edu	37	11	73716870	73716870	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:73716870T>C	ENST00000314032.4	-	4	998	c.446A>G	c.(445-447)cAc>cGc	p.H149R	UCP3_ENST00000426995.2_Missense_Mutation_p.H149R|UCP3_ENST00000348534.4_Intron	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	149					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TGGCCCGAGGTGTATGCTGGC	0.602																																						ENST00000314032.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(445-447)cAc>cGc		uncoupling protein 3 (mitochondrial, proton carrier)							96.0	85.0	89.0					11																	73716870		2200	4293	6493	SO:0001583	missense	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73716870T>C	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.446A>G	11.37:g.73716870T>C	ENSP00000323740:p.His149Arg					UCP3_ENST00000348534.4_Intron|UCP3_ENST00000426995.2_Missense_Mutation_p.H149R	p.H149R	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN			4	998	-	Breast(11;2.08e-05)		149					O60475|Q96HL3	Missense_Mutation	SNP	ENST00000314032.4	37	c.446A>G	CCDS8229.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.278644	0.00254	.	.	ENSG00000175564	ENST00000314032;ENST00000426995	T;T	0.77229	-1.08;-1.08	5.94	2.02	0.26589	Mitochondrial carrier domain (2);	0.790842	0.13125	N	0.411937	T	0.40670	0.1126	N	0.00985	-1.075	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42699	-0.9436	10	0.02654	T	1	-1.1234	5.0558	0.14531	0.0:0.2519:0.2787:0.4694	.	149	P55916	UCP3_HUMAN	R	149	ENSP00000323740:H149R;ENSP00000392143:H149R	ENSP00000323740:H149R	H	-	2	0	UCP3	73394518	0.001000	0.12720	0.003000	0.11579	0.006000	0.05464	0.641000	0.24720	0.543000	0.28864	-0.488000	0.04728	CAC		0.602	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		9	96	0	0	0	1	0	9	96				
OR12D3	81797	broad.mit.edu	37	6	29342617	29342617	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:29342617T>C	ENST00000396806.3	-	1	451	c.448A>G	c.(448-450)Agc>Ggc	p.S150G	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TAAAAGAAGCTGATGAGCCAG	0.493																																						ENST00000396806.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						c.(448-450)Agc>Ggc		olfactory receptor, family 12, subfamily D, member 3							57.0	58.0	58.0					6																	29342617		1509	2709	4218	SO:0001583	missense	81797				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29342617T>C		CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.448A>G	6.37:g.29342617T>C	ENSP00000380023:p.Ser150Gly					OR5V1_ENST00000377154.1_Intron	p.S150G	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN			1	451	-			150					A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	c.448A>G	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.283681	0.00251	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.40476	1.03	4.18	1.75	0.24633	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02571	0.0078	N	0.00666	-1.275	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.47142	-0.9140	9	0.02654	T	1	-11.0118	4.8222	0.13396	0.0:0.5048:0.0:0.4952	.	150	Q9UGF7	O12D3_HUMAN	G	150	ENSP00000380023:S150G	ENSP00000366348:S150G	S	-	1	0	OR12D3	29450596	0.001000	0.12720	0.023000	0.16930	0.233000	0.25261	0.623000	0.24447	0.647000	0.30713	0.164000	0.16699	AGC		0.493	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3			21	64	0	0	0	1	0	21	64				
CDON	50937	broad.mit.edu	37	11	125853841	125853841	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:125853841C>T	ENST00000392693.3	-	16	3048	c.2921G>A	c.(2920-2922)gGc>gAc	p.G974D	CDON_ENST00000263577.7_Missense_Mutation_p.G974D|CDON_ENST00000531738.1_Missense_Mutation_p.G351D	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	974					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GACCATGACGCCCAGCACACA	0.478																																						ENST00000392693.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(2920-2922)gGc>gAc		cell adhesion associated, oncogene regulated							97.0	84.0	88.0					11																	125853841		2201	4299	6500	SO:0001583	missense	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125853841C>T	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2921G>A	11.37:g.125853841C>T	ENSP00000376458:p.Gly974Asp					CDON_ENST00000263577.7_Missense_Mutation_p.G974D|CDON_ENST00000531738.1_Missense_Mutation_p.G351D	p.G974D	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	16	3048	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	974					O14631	Missense_Mutation	SNP	ENST00000392693.3	37	c.2921G>A	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980486	0.92982	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.78364	-1.13;-0.43;-1.17	5.78	5.78	0.91487	.	0.000000	0.53938	D	0.000060	D	0.89350	0.6690	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.996	D	0.89845	0.4005	10	0.87932	D	0	-23.8315	20.001	0.97408	0.0:1.0:0.0:0.0	.	974;974;351	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	D	974;351;974	ENSP00000376458:G974D;ENSP00000432901:G351D;ENSP00000263577:G974D	ENSP00000263577:G974D	G	-	2	0	CDON	125359051	1.000000	0.71417	0.654000	0.29608	0.951000	0.60555	5.708000	0.68377	2.727000	0.93392	0.643000	0.83706	GGC		0.478	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		14	47	0	0	0	1	0	14	47				
PDXDC2P	283970	broad.mit.edu	37	16	70011921	70011921	+	RNA	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:70011921A>G	ENST00000531894.1	-	0	2555				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										AGGGAGAAAAATGTATCCATG	0.502																																						ENST00000325845.7																			0				breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						c.(604-606)Ttt>Ctt																																								283970							g.chr16:70011921A>G			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70011921A>G						PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000532298.1_Intron|RP11-419C5.2_ENST00000525562.1_5'UTR	p.F202L							26	2673	-								A8K9Z5	Missense_Mutation	SNP	ENST00000531894.1	37	c.604T>C		.	.	.	.	.	.	.	.	.	.	.	10.38	1.335174	0.24253	.	.	ENSG00000226232	ENST00000325845	T	0.32023	1.47	0.659	-0.71	0.11234	.	.	.	.	.	T	0.22513	0.0543	.	.	.	.	.	.	.	.	.	.	.	.	T	0.35351	-0.9792	4	0.27785	T	0.31	.	.	.	.	.	.	.	.	L	202	ENSP00000449128:F202L	ENSP00000449128:F202L	F	-	1	0	RP11-419C5.2	68569422	0.431000	0.25546	0.013000	0.15412	0.008000	0.06430	0.001000	0.13038	-0.250000	0.09555	0.310000	0.20435	TTT		0.502	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			20	67	0	0	0	1	0	20	67				
ZNF641	121274	broad.mit.edu	37	12	48737161	48737161	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:48737161T>C	ENST00000544117.2	-	6	1620	c.912A>G	c.(910-912)agA>agG	p.R304R	ZNF641_ENST00000301042.3_Silent_p.R304R|ZNF641_ENST00000448928.3_Silent_p.R281R|ZNF641_ENST00000547026.1_Silent_p.R290R			Q96N77	ZN641_HUMAN	zinc finger protein 641	304					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TGAGGTGATGTCTTCGCCCAA	0.527																																						ENST00000544117.2																			0				breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						c.(910-912)agA>agG		zinc finger protein 641							178.0	160.0	166.0					12																	48737161		2203	4300	6503	SO:0001819	synonymous_variant	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48737161T>C	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.912A>G	12.37:g.48737161T>C						ZNF641_ENST00000301042.3_Silent_p.R304R|ZNF641_ENST00000547026.1_Silent_p.R290R|ZNF641_ENST00000448928.3_Silent_p.R281R	p.R304R			Q96N77	ZN641_HUMAN			6	1620	-			304					B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Silent	SNP	ENST00000544117.2	37	c.912A>G	CCDS8763.1																																																																																				0.527	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		4	174	0	0	0	1	0	4	174				
DLGAP3	58512	broad.mit.edu	37	1	35365747	35365747	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:35365747C>T	ENST00000373347.1	-	4	1503	c.1235G>A	c.(1234-1236)aGc>aAc	p.S412N	DLGAP3_ENST00000235180.4_Missense_Mutation_p.S412N			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	412					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TGTCTTGGGGCTGCCGTCTGA	0.657																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(1234-1236)aGc>aAc		discs, large (Drosophila) homolog-associated protein 3							119.0	109.0	113.0					1																	35365747		2203	4300	6503	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35365747C>T	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1235G>A	1.37:g.35365747C>T	ENSP00000362444:p.Ser412Asn					DLGAP3_ENST00000235180.4_Missense_Mutation_p.S412N	p.S412N			O95886	DLGP3_HUMAN			4	1503	-		Myeloproliferative disorder(586;0.0393)	412					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.1235G>A	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918964	0.92249	.	.	ENSG00000116544	ENST00000373347;ENST00000235180;ENST00000542913	D;D	0.91740	-2.9;-2.9	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	D	0.95924	0.8673	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	D	0.96701	0.9518	10	0.87932	D	0	-13.159	17.2399	0.87010	0.0:1.0:0.0:0.0	.	412	O95886	DLGP3_HUMAN	N	412;412;95	ENSP00000362444:S412N;ENSP00000235180:S412N	ENSP00000235180:S412N	S	-	2	0	DLGAP3	35138334	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.540000	0.82074	2.296000	0.77279	0.313000	0.20887	AGC		0.657	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		11	175	0	0	0	1	0	11	175				
ABHD8	79575	broad.mit.edu	37	19	17405647	17405647	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17405647A>G	ENST00000247706.3	-	3	1008	c.769T>C	c.(769-771)Ttc>Ctc	p.F257L	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	257							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						AATGTGCAGAAAGAGACACTG	0.527																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(769-771)Ttc>Ctc		abhydrolase domain containing 8							64.0	53.0	56.0					19																	17405647		2203	4300	6503	SO:0001583	missense	79575						hydrolase activity	g.chr19:17405647A>G	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.769T>C	19.37:g.17405647A>G	ENSP00000247706:p.Phe257Leu					MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	p.F257L	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			3	1008	-			257					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.769T>C	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506662	0.44558	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.62941	-0.01	4.87	4.87	0.63330	Alpha/beta hydrolase fold-1 (1);	0.114518	0.64402	D	0.000014	T	0.40979	0.1139	N	0.08118	0	0.52501	D	0.999952	B	0.18013	0.025	B	0.12156	0.007	T	0.28267	-1.0049	10	0.31617	T	0.26	-23.9452	12.4063	0.55441	1.0:0.0:0.0:0.0	.	257	Q96I13	ABHD8_HUMAN	L	257;203	ENSP00000247706:F257L	ENSP00000247706:F257L	F	-	1	0	ABHD8	17266647	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	7.024000	0.76443	1.829000	0.53265	0.459000	0.35465	TTC		0.527	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		12	44	0	0	0	1	0	12	44				
BTBD9	114781	broad.mit.edu	37	6	38548147	38548147	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:38548147G>A	ENST00000481247.1	-	5	1032	c.881C>T	c.(880-882)gCc>gTc	p.A294V	BTBD9_ENST00000408958.1_Missense_Mutation_p.A226V|BTBD9_ENST00000314100.6_Missense_Mutation_p.A226V|BTBD9_ENST00000419706.2_Missense_Mutation_p.A235V|BTBD9_ENST00000403056.1_Missense_Mutation_p.A294V	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	294					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						ATCTAATAAGGCTGATTTCAG	0.388																																						ENST00000481247.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						c.(880-882)gCc>gTc		BTB (POZ) domain containing 9							160.0	155.0	156.0					6																	38548147		1870	4103	5973	SO:0001583	missense	114781				cell adhesion			g.chr6:38548147G>A		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.881C>T	6.37:g.38548147G>A	ENSP00000418751:p.Ala294Val					BTBD9_ENST00000403056.1_Missense_Mutation_p.A294V|BTBD9_ENST00000314100.6_Missense_Mutation_p.A226V|BTBD9_ENST00000419706.2_Missense_Mutation_p.A235V|BTBD9_ENST00000408958.1_Missense_Mutation_p.A226V	p.A294V	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN			5	1032	-			294					Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	ENST00000481247.1	37	c.881C>T	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583073	0.86748	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	D;D;T;D;D	0.98585	-5.01;-5.01;-1.09;-5.01;-5.01	5.84	5.84	0.93424	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.046969	0.85682	D	0.000000	D	0.98419	0.9474	L	0.51422	1.61	0.80722	D	1	P;D	0.69078	0.673;0.997	P;D	0.80764	0.459;0.994	D	0.98329	1.0532	10	0.44086	T	0.13	.	20.1392	0.98050	0.0:0.0:1.0:0.0	.	235;294	Q494V9;Q96Q07	.;BTBD9_HUMAN	V	226;294;235;294;226	ENSP00000323408:A226V;ENSP00000418751:A294V;ENSP00000415365:A235V;ENSP00000386121:A294V;ENSP00000386211:A226V	ENSP00000323408:A226V	A	-	2	0	BTBD9	38656125	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.807000	0.99171	2.775000	0.95449	0.655000	0.94253	GCC		0.388	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733		36	121	0	0	0	1	0	36	121				
RGL1	23179	broad.mit.edu	37	1	183885723	183885723	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:183885723C>T	ENST00000360851.3	+	16	2070	c.1892C>T	c.(1891-1893)aCg>aTg	p.T631M	RGL1_ENST00000539189.1_Missense_Mutation_p.T602M|RGL1_ENST00000304685.4_Missense_Mutation_p.T666M|RGL1_ENST00000536277.1_Missense_Mutation_p.T629M			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	631					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.T666M(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GTCTCGGTGACGTCCATTACC	0.502																																						ENST00000304685.3																			1	Substitution - Missense(1)	p.T666M(1)	prostate(1)	breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(1996-1998)aCg>aTg		ral guanine nucleotide dissociation stimulator-like 1							198.0	181.0	187.0					1																	183885723		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183885723C>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1892C>T	1.37:g.183885723C>T	ENSP00000354097:p.Thr631Met					RGL1_ENST00000536277.1_Missense_Mutation_p.T629M|RGL1_ENST00000539189.1_Missense_Mutation_p.T602M|RGL1_ENST00000360851.3_Missense_Mutation_p.T631M|RGL1_ENST00000367531.1_Missense_Mutation_p.T666M	p.T666M	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			17	2458	+			631			Ras-associating.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.1997C>T		.	.	.	.	.	.	.	.	.	.	C	18.73	3.687268	0.68157	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.49432	0.8;0.8;0.81;0.81;0.78	5.43	5.43	0.79202	.	0.272634	0.40302	N	0.001123	T	0.48502	0.1503	L	0.43152	1.355	0.42876	D	0.994156	D;D;D;D	0.60575	0.98;0.988;0.967;0.967	P;P;P;P	0.51833	0.681;0.62;0.482;0.482	T	0.40421	-0.9564	10	0.34782	T	0.22	.	11.325	0.49444	0.0:0.9165:0.0:0.0835	.	602;629;631;666	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	M	666;666;629;631;602	ENSP00000303192:T666M;ENSP00000356501:T666M;ENSP00000438662:T629M;ENSP00000354097:T631M;ENSP00000437355:T602M	ENSP00000303192:T666M	T	+	2	0	RGL1	182152346	0.995000	0.38212	0.872000	0.34217	0.957000	0.61999	3.293000	0.51779	2.555000	0.86185	0.650000	0.86243	ACG		0.502	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		54	114	0	0	0	1	0	54	114				
IL17RA	23765	broad.mit.edu	37	22	17589322	17589322	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:17589322G>A	ENST00000319363.6	+	13	1346	c.1213G>A	c.(1213-1215)Gcc>Acc	p.A405T		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	405	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCTGCTCACCGCCTGCGGCAC	0.637																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(1213-1215)Gcc>Acc		interleukin 17 receptor A							68.0	60.0	63.0					22																	17589322		2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17589322G>A	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1213G>A	22.37:g.17589322G>A	ENSP00000320936:p.Ala405Thr						p.A405T	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	13	1346	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	405			SEFIR.		O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.1213G>A	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818961	0.32145	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.31510	1.49	5.81	2.64	0.31445	SEFIR (1);	0.512416	0.19227	N	0.119507	T	0.20536	0.0494	L	0.36672	1.1	0.09310	N	1	B;B	0.30439	0.279;0.054	B;B	0.19946	0.027;0.013	T	0.12066	-1.0562	10	0.22109	T	0.4	-14.6394	11.115	0.48256	0.1889:0.0:0.8111:0.0	.	353;405	D3YTB4;Q96F46	.;I17RA_HUMAN	T	353;405	ENSP00000320936:A405T	ENSP00000320936:A405T	A	+	1	0	IL17RA	15969322	0.965000	0.33210	0.026000	0.17262	0.897000	0.52465	3.034000	0.49751	0.394000	0.25230	0.555000	0.69702	GCC		0.637	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		22	59	0	0	0	1	0	22	59				
UQCRC2	7385	broad.mit.edu	37	16	21994469	21994469	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:21994469A>G	ENST00000268379.4	+	14	2103	c.1339A>G	c.(1339-1341)Aca>Gca	p.T447A	UQCRC2_ENST00000561553.1_Missense_Mutation_p.I395M	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	447					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		TTTGGGACATACACCTTTTGT	0.393																																					Colon(123;450 1645 12841 25393 45623)	ENST00000268379.4																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						c.(1339-1341)Aca>Gca		ubiquinol-cytochrome c reductase core protein II							126.0	106.0	113.0					16																	21994469		2198	4300	6498	SO:0001583	missense	7385				aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding	g.chr16:21994469A>G	J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.1339A>G	16.37:g.21994469A>G	ENSP00000268379:p.Thr447Ala					UQCRC2_ENST00000561553.1_Missense_Mutation_p.I395M	p.T447A	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0264)	14	2103	+			447					B3KSN4|Q9BQ05	Missense_Mutation	SNP	ENST00000268379.4	37	c.1339A>G	CCDS10601.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.905179	0.52333	.	.	ENSG00000140740	ENST00000268379	T	0.43294	0.95	5.13	5.13	0.70059	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.093145	0.64402	D	0.000001	T	0.47619	0.1455	M	0.74258	2.255	0.24829	N	0.992538	P	0.52692	0.955	P	0.45474	0.482	T	0.50575	-0.8812	10	0.38643	T	0.18	-3.9798	12.9139	0.58195	1.0:0.0:0.0:0.0	.	447	P22695	QCR2_HUMAN	A	447	ENSP00000268379:T447A	ENSP00000268379:T447A	T	+	1	0	UQCRC2	21901970	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.755000	0.85180	1.927000	0.55829	0.533000	0.62120	ACA		0.393	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366		4	77	0	0	0	1	0	4	77				
GNAS	2778	broad.mit.edu	37	20	57485765	57485765	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:57485765C>T	ENST00000371085.3	+	13	1490	c.1066C>T	c.(1066-1068)Cgt>Tgt	p.R356C	GNAS_ENST00000265620.7_Missense_Mutation_p.R341C|GNAS_ENST00000371095.3_Missense_Mutation_p.R342C|GNAS_ENST00000371102.4_Missense_Mutation_p.R985C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R357C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.R999C|GNAS_ENST00000306090.10_Missense_Mutation_p.R342C	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	356					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGGAGATGGGCGTCACTACTG	0.577			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2995-2997)Cgt>Tgt		GNAS complex locus							160.0	108.0	126.0					20																	57485765		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57485765C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.1066C>T	20.37:g.57485765C>T	ENSP00000360126:p.Arg356Cys	TSP Lung(22;0.16)				GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.R356C|GNAS_ENST00000354359.7_Missense_Mutation_p.R357C|GNAS_ENST00000371102.4_Missense_Mutation_p.R985C|GNAS_ENST00000371095.3_Missense_Mutation_p.R342C|GNAS_ENST00000265620.7_Missense_Mutation_p.R341C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R342C	p.R999C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		13	3547	+	all_lung(29;0.0104)		356					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2995C>T	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681814	0.68042	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090;ENST00000371082	D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.17	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.91168	0.7218	M	0.87900	2.915	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.997;1.0	P;P;P;D	0.79784	0.866;0.908;0.794;0.993	D	0.92169	0.5742	10	0.87932	D	0	.	12.829	0.57736	0.245:0.755:0.0:0.0	.	356;357;341;999	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	C	999;985;342;356;357;341;342;122	ENSP00000360141:R999C;ENSP00000360143:R985C;ENSP00000360136:R342C;ENSP00000360126:R356C;ENSP00000346328:R357C;ENSP00000265620:R341C;ENSP00000304472:R342C	ENSP00000265620:R341C	R	+	1	0	GNAS	56919160	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.496000	0.45346	2.567000	0.86603	0.467000	0.42956	CGT		0.577	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		15	48	0	0	0	1	0	15	48				
AGTRAP	57085	broad.mit.edu	37	1	11808623	11808623	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:11808623A>G	ENST00000314340.5	+	4	374	c.320A>G	c.(319-321)tAc>tGc	p.Y107C	AGTRAP_ENST00000376629.4_Missense_Mutation_p.Y107C|AGTRAP_ENST00000452018.2_Silent_p.L139L|AGTRAP_ENST00000376637.3_Silent_p.L95L|AGTRAP_ENST00000510878.1_Missense_Mutation_p.T72A|AGTRAP_ENST00000376627.2_Silent_p.L151L|AGTRAP_ENST00000400895.2_Silent_p.L139L|AGTRAP_ENST00000491346.1_3'UTR	NM_020350.4	NP_065083.3	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	107					regulation of blood pressure (GO:0008217)|response to hypoxia (GO:0001666)	cell cortex (GO:0005938)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTTCGTCTACCACATGTAC	0.657																																						ENST00000314340.5																		AGTRAP/BRAF(2)	0				endometrium(1)|lung(3)|prostate(1)	5						c.(319-321)tAc>tGc		angiotensin II receptor-associated protein							66.0	56.0	59.0					1																	11808623		2203	4300	6503	SO:0001583	missense	57085					cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding	g.chr1:11808623A>G	AF165187	CCDS136.1, CCDS30585.1, CCDS30586.1, CCDS41248.1, CCDS44056.1	1p36.22	2008-02-05			ENSG00000177674	ENSG00000177674			13539	protein-coding gene	gene with protein product		608729				11733189	Standard	NM_001040194		Approved	ATRAP	uc001asv.3	Q6RW13	OTTHUMG00000002230	ENST00000314340.5:c.320A>G	1.37:g.11808623A>G	ENSP00000319713:p.Tyr107Cys					AGTRAP_ENST00000452018.2_Silent_p.L139L|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000376629.4_Missense_Mutation_p.Y107C|AGTRAP_ENST00000400895.2_Silent_p.L139L|AGTRAP_ENST00000376627.2_Silent_p.L151L|AGTRAP_ENST00000510878.1_Missense_Mutation_p.T72A|AGTRAP_ENST00000376637.3_Silent_p.L95L	p.Y107C	NM_020350.4	NP_065083.3	Q6RW13	ATRAP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	4	374	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	107					A8MVQ5|Q5SNV4|Q5SNV5|Q96AC0|Q96PL4|Q9NRW9	Missense_Mutation	SNP	ENST00000314340.5	37	c.320A>G	CCDS136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.70|13.70	2.315503|2.315503	0.40996|0.40996	.|.	.|.	ENSG00000177674|ENSG00000177674	ENST00000510878|ENST00000376629;ENST00000314340	.|T;T	.|0.54479	.|0.57;0.57	3.93|3.93	3.93|3.93	0.45458|0.45458	.|.	.|0.178473	.|0.37623	.|U	.|0.002001	T|T	0.67674|0.67674	0.2918|0.2918	.|.	.|.	.|.	0.26095|0.26095	N|N	0.980896|0.980896	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.69479	.|0.934;0.964	T|T	0.60727|0.60727	-0.7206|-0.7206	5|9	0.30854|0.87932	T|D	0.27|0	-1.3067|-1.3067	11.0704|11.0704	0.47999|0.47999	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|107;107	.|Q6RW13-2;Q6RW13	.|.;ATRAP_HUMAN	A|C	72|107	.|ENSP00000365816:Y107C;ENSP00000319713:Y107C	ENSP00000422647:T72A|ENSP00000319713:Y107C	T|Y	+|+	1|2	0|0	AGTRAP|AGTRAP	11731210|11731210	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.858000|0.858000	0.48976|0.48976	7.884000|7.884000	0.87274|0.87274	1.793000|1.793000	0.52555|0.52555	0.379000|0.379000	0.24179|0.24179	ACC|TAC		0.657	AGTRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006335.1	NM_020350		10	63	0	0	0	1	0	10	63				
EML1	2009	broad.mit.edu	37	14	100363565	100363565	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:100363565T>C	ENST00000262233.6	+	7	900	c.761T>C	c.(760-762)gTg>gCg	p.V254A	EML1_ENST00000334192.4_Missense_Mutation_p.V273A|EML1_ENST00000327921.9_Missense_Mutation_p.V242A	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	254	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GCATCCGTGGTGGTGTTATAC	0.527																																						ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(760-762)gTg>gCg		echinoderm microtubule associated protein like 1							151.0	122.0	132.0					14																	100363565		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100363565T>C	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.761T>C	14.37:g.100363565T>C	ENSP00000262233:p.Val254Ala					EML1_ENST00000334192.4_Missense_Mutation_p.V273A|EML1_ENST00000327921.9_Missense_Mutation_p.V242A	p.V254A	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			7	900	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	254					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.761T>C	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.398821	0.62177	.	.	ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138;ENST00000556714	T;T;T;T;T	0.54675	1.48;0.56;0.56;0.56;1.48	5.3	5.3	0.74995	HELP (1);WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.055622	0.64402	D	0.000001	T	0.61924	0.2386	L	0.33293	1	0.80722	D	1	D;D;B;D;D	0.76494	0.997;0.998;0.195;0.999;0.998	D;D;B;D;D	0.81914	0.991;0.995;0.085;0.995;0.995	T	0.61227	-0.7105	10	0.38643	T	0.18	-19.1801	15.2628	0.73637	0.0:0.0:0.0:1.0	.	242;242;254;273;273	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	A	241;242;254;273;273;223	ENSP00000451346:V241A;ENSP00000327384:V242A;ENSP00000262233:V254A;ENSP00000334314:V273A;ENSP00000452089:V223A	ENSP00000262233:V254A	V	+	2	0	EML1	99433318	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	5.903000	0.69877	2.012000	0.59069	0.533000	0.62120	GTG		0.527	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		33	72	0	0	0	1	0	33	72				
RDM1	201299	broad.mit.edu	37	17	34249575	34249575	+	Intron	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:34249575T>C	ENST00000293273.6	-	5	713				RDM1_ENST00000419453.2_Intron|RDM1_ENST00000430160.2_Missense_Mutation_p.T202A|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000394528.3_Missense_Mutation_p.T225A|RDM1_ENST00000394527.1_3'UTR|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000394529.3_Intron|RDM1_ENST00000431884.2_Intron	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1						DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATCAAGACAGTCTTACCTAGA	0.328								Other identified genes with known or suspected DNA repair function																														ENST00000430160.2																			0				breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9						c.(604-606)Act>Gct	Other identified genes with known or suspected DNA repair function	RAD52 motif 1							144.0	141.0	142.0					17																	34249575		2203	4300	6503	SO:0001627	intron_variant	201299				DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding	g.chr17:34249575T>C	AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"""RNA binding motif (RRM) containing"""	19950	protein-coding gene	gene with protein product		612896	"""RAD52 homolog B (S. cerevisiae)"", ""RAD52 motif 1"""	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.667+5A>G	17.37:g.34249575T>C						RDM1_ENST00000293273.6_Intron|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000431884.2_Intron|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000419453.2_Intron|RDM1_ENST00000394527.1_3'UTR|RDM1_ENST00000394528.3_Missense_Mutation_p.T225A|RDM1_ENST00000394529.3_Intron	p.T202A			Q8NG50	RDM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	4	1074	-		Ovarian(249;0.17)	0					A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Missense_Mutation	SNP	ENST00000293273.6	37	c.604A>G	CCDS11301.1	.	.	.	.	.	.	.	.	.	.	T	5.684	0.310843	0.10733	.	.	ENSG00000187456	ENST00000430160;ENST00000394528	T;T	0.29917	1.55;1.55	3.42	3.42	0.39159	.	.	.	.	.	T	0.14657	0.0354	N	0.08118	0	0.80722	D	1	P;P	0.35033	0.481;0.481	B;B	0.28916	0.096;0.096	T	0.10474	-1.0628	9	0.62326	D	0.03	.	10.1461	0.42764	0.0:0.0:0.0:1.0	.	202;225	B4DZ74;A8MY68	.;.	A	202;225	ENSP00000413421:T202A;ENSP00000378036:T225A	ENSP00000378036:T225A	T	-	1	0	RDM1	31273688	0.995000	0.38212	0.994000	0.49952	0.268000	0.26511	0.515000	0.22801	1.548000	0.49413	0.477000	0.44152	ACT		0.328	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2	NM_145654		28	127	0	0	0	1	0	28	127				
R3HDM1	23518	broad.mit.edu	37	2	136379096	136379096	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:136379096T>C	ENST00000264160.4	+	6	706	c.336T>C	c.(334-336)ttT>ttC	p.F112F	R3HDM1_ENST00000329971.3_Silent_p.F68F|R3HDM1_ENST00000409606.1_Silent_p.F112F|R3HDM1_ENST00000409478.1_Silent_p.F68F|R3HDM1_ENST00000410054.1_Silent_p.F56F	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	112							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CACAATCATTTGAGAAAGAAG	0.328																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(334-336)ttT>ttC		R3H domain containing 1							60.0	66.0	64.0					2																	136379096		2203	4299	6502	SO:0001819	synonymous_variant	23518						nucleic acid binding	g.chr2:136379096T>C	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.336T>C	2.37:g.136379096T>C						R3HDM1_ENST00000409606.1_Silent_p.F112F|R3HDM1_ENST00000410054.1_Silent_p.F56F|R3HDM1_ENST00000409478.1_Silent_p.F68F|R3HDM1_ENST00000329971.3_Silent_p.F68F	p.F112F	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	6	706	+			112					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent	SNP	ENST00000264160.4	37	c.336T>C	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.289334	0.23478	.	.	ENSG00000048991	ENST00000456040	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	T	0.61286	0.2335	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60434	-0.7264	4	.	.	.	-7.9407	9.9578	0.41678	0.0:0.076:0.0:0.924	.	.	.	.	S	95	.	.	L	+	2	0	R3HDM1	136095566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.957000	0.40392	2.057000	0.61298	0.528000	0.53228	TTG		0.328	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		3	21	0	0	0	1	0	3	21				
OGFOD1	55239	broad.mit.edu	37	16	56500103	56500103	+	Missense_Mutation	SNP	G	G	A	rs200026611		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:56500103G>A	ENST00000566157.1	+	5	611	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	OGFOD1_ENST00000568397.1_Missense_Mutation_p.R163Q	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	163	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	GAAGGGCGCCGGATTGCCTTC	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		19122	0.0		0.0	False		,,,				2504	0.001					ENST00000566157.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(487-489)cGg>cAg		2-oxoglutarate and iron-dependent oxygenase domain containing 1	Vitamin C(DB00126)						176.0	129.0	145.0					16																	56500103		2198	4300	6498	SO:0001583	missense	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56500103G>A	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.488G>A	16.37:g.56500103G>A	ENSP00000457258:p.Arg163Gln					OGFOD1_ENST00000568397.1_Missense_Mutation_p.R163Q	p.R163Q	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN			5	611	+			163			Fe2OG dioxygenase.		H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	ENST00000566157.1	37	c.488G>A	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	G	36	5.722306	0.96839	.	.	ENSG00000087263	ENST00000336111	.	.	.	5.64	5.64	0.86602	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.83326	0.5230	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.83410	0.0027	9	0.49607	T	0.09	-11.8243	19.702	0.96059	0.0:0.0:1.0:0.0	.	163	Q8N543	OGFD1_HUMAN	Q	163	.	ENSP00000337196:R163Q	R	+	2	0	OGFOD1	55057604	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	9.675000	0.98638	2.669000	0.90835	0.561000	0.74099	CGG		0.522	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		6	73	0	0	0	1	0	6	73				
PPFIBP1	8496	broad.mit.edu	37	12	27844717	27844717	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:27844717G>T	ENST00000318304.8	+	27	3022	c.2739G>T	c.(2737-2739)ttG>ttT	p.L913F	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.L882F|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.L760F|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.L907F	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	913					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TTGGGAATTTGAGAAAGAAGA	0.353																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(2737-2739)ttG>ttT		PTPRF interacting protein, binding protein 1 (liprin beta 1)							109.0	109.0	109.0					12																	27844717		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27844717G>T	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2739G>T	12.37:g.27844717G>T	ENSP00000314724:p.Leu913Phe					PPFIBP1_ENST00000542629.1_Missense_Mutation_p.L882F|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.L907F|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.L760F	p.L913F	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			27	3022	+	Lung SC(9;0.0873)		913					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.2739G>T	CCDS55812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.00|19.00	3.742676|3.742676	0.69418|0.69418	.|.	.|.	ENSG00000110841|ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425|ENST00000539326	T;T;T;T;T|.	0.46819|.	0.86;1.35;1.77;1.77;1.77|.	5.5|5.5	4.41|4.41	0.53225|0.53225	.|.	0.000000|.	0.27861|.	U|.	0.017543|.	T|.	0.72811|.	0.3507|.	M|M	0.76170|0.76170	2.325|2.325	0.53688|0.53688	D|D	0.999979|0.999979	D;D;D;P;D|.	0.89917|.	0.997;1.0;1.0;0.84;0.999|.	D;D;D;P;D|.	0.91635|.	0.986;0.999;0.98;0.655;0.991|.	T|.	0.73319|.	-0.4020|.	10|.	0.37606|.	T|.	0.19|.	-11.9901|-11.9901	12.6936|12.6936	0.56990|0.56990	0.1365:0.0:0.8635:0.0|0.1365:0.0:0.8635:0.0	.|.	760;744;913;907;882|.	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4|.	.;.;LIPB1_HUMAN;.;.|.	F|L	744;760;913;882;907|144	ENSP00000444304:L744F;ENSP00000445425:L760F;ENSP00000314724:L913F;ENSP00000443442:L882F;ENSP00000228425:L907F|.	ENSP00000228425:L907F|.	L|X	+|+	3|2	2|2	PPFIBP1|PPFIBP1	27735984|27735984	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.932000|0.932000	0.56968|0.56968	3.133000|3.133000	0.50531|0.50531	2.577000|2.577000	0.86979|0.86979	0.655000|0.655000	0.94253|0.94253	TTG|TGA		0.353	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		25	148	1	0	4.22769e-11	1	4.39123e-11	25	148				
PSMD1	5707	broad.mit.edu	37	2	231943377	231943377	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:231943377C>T	ENST00000308696.6	+	10	1238	c.1076C>T	c.(1075-1077)gCa>gTa	p.A359V	PSMD1_ENST00000373635.4_Missense_Mutation_p.A359V|PSMD1_ENST00000409643.1_Missense_Mutation_p.A359V	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	359					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TTGCAGGATGCAGTACGGAAT	0.398																																						ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(1075-1077)gCa>gTa		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						121.0	112.0	115.0					2																	231943377		2203	4300	6503	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231943377C>T	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1076C>T	2.37:g.231943377C>T	ENSP00000309474:p.Ala359Val					PSMD1_ENST00000409643.1_Missense_Mutation_p.A359V|PSMD1_ENST00000373635.4_Missense_Mutation_p.A359V	p.A359V	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	10	1238	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	359					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.1076C>T	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408143	0.83340	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.68	5.68	0.88126	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64294	0.2585	M	0.67700	2.07	0.80722	D	1	B;P	0.40619	0.255;0.724	B;B	0.37833	0.067;0.259	T	0.67860	-0.5561	9	0.52906	T	0.07	-14.8049	19.7837	0.96428	0.0:1.0:0.0:0.0	.	359;359	Q99460;Q99460-2	PSMD1_HUMAN;.	V	359	.	ENSP00000309474:A359V	A	+	2	0	PSMD1	231651621	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.754000	0.85163	2.670000	0.90874	0.585000	0.79938	GCA		0.398	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			10	23	0	0	0	1	0	10	23				
CDH1	999	broad.mit.edu	37	16	68867195	68867195	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:68867195T>C	ENST00000261769.5	+	16	2633	c.2442T>C	c.(2440-2442)aaT>aaC	p.N814N	CDH1_ENST00000422392.2_Silent_p.N753N|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	814	Required for binding alpha, beta and gamma catenins.				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)			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)		TTCTTTAGAATCTGAAAGCGG	0.488			"""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"""		0				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.(2440-2442)aaT>aaC		cadherin 1, type 1, E-cadherin (epithelial)							70.0	71.0	71.0					16																	68867195		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.chr16:68867195T>C	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.2442T>C	16.37:g.68867195T>C						CDH1_ENST00000422392.2_Silent_p.N753N|CDH1_ENST00000562836.1_3'UTR	p.N814N	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)	16	2633	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	814			Required for binding alpha, beta and gamma catenins.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Silent	SNP	ENST00000261769.5	37	c.2442T>C	CCDS10869.1																																																																																				0.488	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		4	80	0	0	0	1	0	4	80				
INPP4A	3631	broad.mit.edu	37	2	99149904	99149904	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:99149904C>T	ENST00000523221.1	+	3	216	c.216C>T	c.(214-216)gtC>gtT	p.V72V	INPP4A_ENST00000409463.1_Silent_p.V72V|INPP4A_ENST00000545415.1_Silent_p.V72V|INPP4A_ENST00000074304.5_Silent_p.V72V|INPP4A_ENST00000409016.4_Silent_p.V72V|INPP4A_ENST00000409540.3_Silent_p.V72V|INPP4A_ENST00000409851.3_Silent_p.V72V			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	72	C2.				inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CGGTGAGTGTCACCACCCCTC	0.507																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(214-216)gtC>gtT		inositol polyphosphate-4-phosphatase, type I, 107kDa							133.0	129.0	131.0					2																	99149904		2061	4219	6280	SO:0001819	synonymous_variant	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99149904C>T	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.216C>T	2.37:g.99149904C>T						INPP4A_ENST00000409016.3_Silent_p.V72V|INPP4A_ENST00000409540.3_Silent_p.V72V|INPP4A_ENST00000545415.1_Silent_p.V72V|INPP4A_ENST00000523221.1_Silent_p.V72V|INPP4A_ENST00000409463.1_Silent_p.V72V|INPP4A_ENST00000409851.3_Silent_p.V72V	p.V72V	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			5	609	+			72			C2.		O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	ENST00000523221.1	37	c.216C>T	CCDS46369.1																																																																																				0.507	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		30	105	0	0	0	1	0	30	105				
KNDC1	85442	broad.mit.edu	37	10	135038191	135038191	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:135038191C>T	ENST00000304613.3	+	30	5068	c.5047C>T	c.(5047-5049)Cac>Tac	p.H1683Y	KNDC1_ENST00000368572.2_Missense_Mutation_p.H1685Y			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1683	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGCCAGGTGCACGCGTTCCA	0.607																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(5047-5049)Cac>Tac		kinase non-catalytic C-lobe domain (KIND) containing 1							88.0	71.0	77.0					10																	135038191		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135038191C>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.5047C>T	10.37:g.135038191C>T	ENSP00000304437:p.His1683Tyr					KNDC1_ENST00000368572.2_Missense_Mutation_p.H1685Y	p.H1683Y			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	30	5068	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1683			Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.5047C>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005604	0.74932	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.29397	1.57;1.57	4.42	4.42	0.53409	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.254848	0.39146	N	0.001444	T	0.36853	0.0982	L	0.29908	0.895	0.45822	D	0.998694	D	0.54601	0.967	P	0.55667	0.781	T	0.19418	-1.0306	10	0.56958	D	0.05	-29.5124	14.8796	0.70522	0.0:1.0:0.0:0.0	.	1683	Q76NI1	VKIND_HUMAN	Y	1683;1685	ENSP00000304437:H1683Y;ENSP00000357561:H1685Y	ENSP00000304437:H1683Y	H	+	1	0	KNDC1	134888181	0.998000	0.40836	0.966000	0.40874	0.932000	0.56968	4.481000	0.60250	2.171000	0.68590	0.655000	0.94253	CAC		0.607	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		10	51	0	0	0	1	0	10	51				
ITGA4	3676	broad.mit.edu	37	2	182347144	182347144	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:182347144A>G	ENST00000397033.2	+	8	1328	c.898A>G	c.(898-900)Aaa>Gaa	p.K300E		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	300					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	AATGAAAGGTAAAAAGGTAAT	0.333																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(898-900)Aaa>Gaa		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						126.0	122.0	123.0					2																	182347144		1840	4096	5936	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182347144A>G		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.898A>G	2.37:g.182347144A>G	ENSP00000380227:p.Lys300Glu						p.K300E	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		8	1328	+			300					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.898A>G	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.876688	0.51801	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.11169	2.8;2.8	5.92	5.92	0.95590	.	0.047136	0.85682	D	0.000000	T	0.08447	0.0210	N	0.11201	0.11	0.52099	D	0.999948	P;D	0.53885	0.768;0.963	B;P	0.47118	0.418;0.538	T	0.40646	-0.9552	10	0.09338	T	0.73	.	16.3678	0.83341	1.0:0.0:0.0:0.0	.	300;300	E7EP60;P13612	.;ITA4_HUMAN	E	300	ENSP00000380227:K300E;ENSP00000233573:K300E	ENSP00000233573:K300E	K	+	1	0	ITGA4	182055389	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.513000	0.73742	2.254000	0.74563	0.528000	0.53228	AAA		0.333	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			21	87	0	0	0	1	0	21	87				
NR2E1	7101	broad.mit.edu	37	6	108496088	108496088	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:108496088C>T	ENST00000368986.4	+	3	928	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	NR2E1_ENST00000368983.3_Missense_Mutation_p.R111W	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	74					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CAGGGCGTGTCGGCTGAAGAA	0.498																																						ENST00000368986.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30						c.(220-222)Cgg>Tgg		nuclear receptor subfamily 2, group E, member 1							123.0	107.0	112.0					6																	108496088		2203	4300	6503	SO:0001583	missense	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108496088C>T	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.220C>T	6.37:g.108496088C>T	ENSP00000357982:p.Arg74Trp					NR2E1_ENST00000368983.3_Missense_Mutation_p.R111W	p.R74W	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	3	928	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	74					Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	37	c.220C>T	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	C	33	5.272779	0.95429	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.98633	-5.04;-5.04	5.11	5.11	0.69529	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.107870	0.64402	D	0.000004	D	0.99701	0.9886	H	0.99906	4.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96987	0.9719	10	0.87932	D	0	.	18.3087	0.90192	0.0:1.0:0.0:0.0	.	74	Q9Y466	NR2E1_HUMAN	W	74;111	ENSP00000357982:R74W;ENSP00000357979:R111W	ENSP00000357979:R111W	R	+	1	2	NR2E1	108602781	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.205000	0.58466	2.647000	0.89833	0.655000	0.94253	CGG		0.498	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			23	37	0	0	0	1	0	23	37				
ACIN1	22985	broad.mit.edu	37	14	23549361	23549361	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23549361A>C	ENST00000262710.1	-	6	1684	c.1357T>G	c.(1357-1359)Tct>Gct	p.S453A	ACIN1_ENST00000555053.1_Missense_Mutation_p.S453A|ACIN1_ENST00000457657.1_Missense_Mutation_p.S413A|ACIN1_ENST00000605057.1_Missense_Mutation_p.S395A|ACIN1_ENST00000555352.1_5'Flank	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	453					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTAGGAGGAGATAACTGAATG	0.502																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1357-1359)Tct>Gct		apoptotic chromatin condensation inducer 1							68.0	71.0	70.0					14																	23549361		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23549361A>C	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1357T>G	14.37:g.23549361A>C	ENSP00000262710:p.Ser453Ala					ACIN1_ENST00000555053.1_Missense_Mutation_p.S453A|ACIN1_ENST00000605057.1_Missense_Mutation_p.S395A|ACIN1_ENST00000457657.1_Missense_Mutation_p.S413A	p.S453A	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	1684	-	all_cancers(95;1.36e-05)		453					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.1357T>G	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	A	10.07	1.249467	0.22880	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.22539	1.95;1.95;1.95	5.42	4.27	0.50696	.	0.000000	0.38959	N	0.001517	T	0.14270	0.0345	L	0.27053	0.805	0.24179	N	0.995593	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.09377	0.004;0.002;0.003	T	0.16988	-1.0384	10	0.37606	T	0.19	-3.6048	9.4723	0.38851	0.8222:0.1778:0.0:0.0	.	453;453;413	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	A	453;413;453	ENSP00000262710:S453A;ENSP00000405677:S413A;ENSP00000451328:S453A	ENSP00000262710:S453A	S	-	1	0	ACIN1	22619201	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	2.551000	0.45820	1.058000	0.40530	0.528000	0.53228	TCT		0.502	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		4	125	0	0	0	1	0	4	125				
PTPN7	5778	broad.mit.edu	37	1	202128645	202128645	+	Intron	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:202128645C>T	ENST00000308986.5	-	2	79				PTPN7_ENST00000309017.3_Intron|PTPN7_ENST00000492977.1_5'Flank|PTPN7_ENST00000367279.4_Start_Codon_SNP_p.M1I|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000543735.1_Intron			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						AGGAGGCTCCCATGCCAGGCC	0.587																																						ENST00000367279.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						c.(1-3)atG>atA		protein tyrosine phosphatase, non-receptor type 7							38.0	39.0	39.0					1																	202128645		2203	4300	6503	SO:0001627	intron_variant	5778					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr1:202128645C>T	BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.52-63G>A	1.37:g.202128645C>T						PTPN7_ENST00000309017.3_Intron|PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000308986.5_Intron	p.M1I	NM_080588.2	NP_542155.1	P35236	PTN7_HUMAN			1	474	-			0					B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Translation_Start_Site	SNP	ENST00000308986.5	37	c.3G>A		.	.	.	.	.	.	.	.	.	.	C	8.358	0.832405	0.16820	.	.	ENSG00000143851	ENST00000367279	T	0.03717	3.83	4.69	0.46	0.16684	.	.	.	.	.	T	0.02380	0.0073	.	.	.	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.48779	-0.9005	8	0.20046	T	0.44	.	7.2793	0.26302	0.0:0.587:0.0:0.413	.	1	P35236-2	.	I	1	ENSP00000356248:M1I	ENSP00000356248:M1I	M	-	3	0	PTPN7	200395268	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	0.449000	0.21744	0.062000	0.16340	-0.350000	0.07774	ATG		0.587	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002832		19	59	0	0	0	1	0	19	59				
UTP20	27340	broad.mit.edu	37	12	101679591	101679591	+	Silent	SNP	C	C	T	rs553438921		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:101679591C>T	ENST00000261637.4	+	4	432	c.258C>T	c.(256-258)aaC>aaT	p.N86N		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	86					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATCACCAAAACGAGATAGTTC	0.363																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(256-258)aaC>aaT		UTP20, small subunit (SSU) processome component, homolog (yeast)							108.0	108.0	108.0					12																	101679591		2203	4300	6503	SO:0001819	synonymous_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101679591C>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.258C>T	12.37:g.101679591C>T							p.N86N	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			4	432	+			86					Q9H3H4	Silent	SNP	ENST00000261637.4	37	c.258C>T	CCDS9081.1																																																																																				0.363	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		27	106	0	0	0	1	0	27	106				
NCOA2	10499	broad.mit.edu	37	8	71069425	71069425	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:71069425C>T	ENST00000452400.2	-	11	1356	c.1175G>A	c.(1174-1176)gGg>gAg	p.G392E	NCOA2_ENST00000524223.1_5'Flank	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	392					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CAGTGGCTTCCCCATCGTTTG	0.433			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(1174-1176)gGg>gAg		nuclear receptor coactivator 2							63.0	61.0	61.0					8																	71069425		1933	4148	6081	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71069425C>T	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1175G>A	8.37:g.71069425C>T	ENSP00000399968:p.Gly392Glu						p.G392E	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	1356	-	Breast(64;0.201)		392					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.1175G>A	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479898	0.44044	.	.	ENSG00000140396	ENST00000452400	T	0.01572	4.76	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.03178	0.0093	L	0.36672	1.1	0.80722	D	1	D	0.54601	0.967	P	0.49953	0.627	T	0.53578	-0.8419	10	0.02654	T	1	.	19.6505	0.95798	0.0:1.0:0.0:0.0	.	392	Q15596	NCOA2_HUMAN	E	392	ENSP00000399968:G392E	ENSP00000399968:G392E	G	-	2	0	NCOA2	71231979	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.294000	0.78760	2.635000	0.89317	0.563000	0.77884	GGG		0.433	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			12	48	0	0	0	1	0	12	48				
DNM1P47	100216544	broad.mit.edu	37	15	102305099	102305099	+	RNA	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:102305099C>G	ENST00000561463.1	+	0	13145									DNM1 pseudogene 47																		ACCATCAGCACAGCTACGGGG	0.637																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102305099C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102305099C>G														0	13145	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.637	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		7	24	0	0	0	1	0	7	24				
ATAD2B	54454	broad.mit.edu	37	2	24021108	24021108	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:24021108A>G	ENST00000238789.5	-	19	2883	c.2540T>C	c.(2539-2541)gTg>gCg	p.V847A	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	847						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTGCTCTCACAGTTTCACT	0.383																																						ENST00000238789.5																			0				central_nervous_system(1)	1						c.(2539-2541)gTg>gCg		ATPase family, AAA domain containing 2B							71.0	67.0	69.0					2																	24021108		1864	4110	5974	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24021108A>G	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2540T>C	2.37:g.24021108A>G	ENSP00000238789:p.Val847Ala					ATAD2B_ENST00000474583.1_5'UTR	p.V847A	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN			19	2883	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		847					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.2540T>C	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.61|19.61	3.859101|3.859101	0.71834|0.71834	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789;ENST00000546030|ENST00000381024	D|.	0.95205|.	-3.64|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.350135|.	0.23226|.	N|.	0.050510|.	T|.	0.54447|.	0.1859|.	L|L	0.28274|0.28274	0.84|0.84	0.80722|0.80722	D|D	1|1	P;P|.	0.40302|.	0.589;0.712|.	B;B|.	0.42738|.	0.223;0.396|.	T|.	0.51220|.	-0.8733|.	10|.	0.22109|.	T|.	0.4|.	.|.	15.8115|15.8115	0.78568|0.78568	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	847;847|.	Q9ULI0;Q9ULI0-2|.	ATD2B_HUMAN;.|.	A|R	847;15|128	ENSP00000238789:V847A|.	ENSP00000238789:V847A|.	V|X	-|-	2|1	0|0	ATAD2B|ATAD2B	23874612|23874612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.136000|9.136000	0.94489|0.94489	2.198000|2.198000	0.70561|0.70561	0.533000|0.533000	0.62120|0.62120	GTG|TGA		0.383	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		10	22	0	0	0	1	0	10	22				
CD2BP2	10421	broad.mit.edu	37	16	30364596	30364596	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30364596C>T	ENST00000305596.3	-	6	996	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	CD2BP2_ENST00000569466.1_Missense_Mutation_p.R274Q|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	274					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						ACCATCTCCCCGCGACTCTGC	0.572																																						ENST00000305596.3																			0				breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						c.(820-822)cGg>cAg		CD2 (cytoplasmic tail) binding protein 2							126.0	114.0	118.0					16																	30364596		2197	4300	6497	SO:0001583	missense	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30364596C>T	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.821G>A	16.37:g.30364596C>T	ENSP00000304903:p.Arg274Gln					CD2BP2_ENST00000569466.1_Missense_Mutation_p.R274Q	p.R274Q	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN			6	996	-			274					B2RDX2|Q9ULP2	Missense_Mutation	SNP	ENST00000305596.3	37	c.821G>A	CCDS10675.1	.	.	.	.	.	.	.	.	.	.	c	0.168	-1.074544	0.01903	.	.	ENSG00000169217	ENST00000305596	T	0.29397	1.57	4.81	-0.963	0.10330	.	0.896444	0.09737	N	0.762414	T	0.11537	0.0281	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34054	-0.9844	10	0.13470	T	0.59	-6.2341	3.2443	0.06792	0.1532:0.2481:0.4726:0.1261	.	274	O95400	CD2B2_HUMAN	Q	274	ENSP00000304903:R274Q	ENSP00000304903:R274Q	R	-	2	0	CD2BP2	30272097	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	0.081000	0.14823	-0.069000	0.12931	-0.128000	0.14901	CGG		0.572	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		40	122	0	0	0	1	0	40	122				
CUX1	1523	broad.mit.edu	37	7	101833102	101833102	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:101833102G>A	ENST00000292535.7	+	12	1065	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	CUX1_ENST00000546411.2_Missense_Mutation_p.E343K|CUX1_ENST00000292538.4_Missense_Mutation_p.E354K|CUX1_ENST00000437600.4_Missense_Mutation_p.E352K|CUX1_ENST00000556210.1_Missense_Mutation_p.E343K|CUX1_ENST00000360264.3_Missense_Mutation_p.E354K|CUX1_ENST00000547394.2_Missense_Mutation_p.E338K|CUX1_ENST00000425244.2_Missense_Mutation_p.E308K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000549414.2_Missense_Mutation_p.E343K|CUX1_ENST00000550008.2_Missense_Mutation_p.E343K|CUX1_ENST00000393824.3_Missense_Mutation_p.E315K	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	343					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCAACTGGAAGAAAAACTCAA	0.537																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(1060-1062)Gaa>Aaa		cut-like homeobox 1							101.0	99.0	100.0					7																	101833102		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101833102G>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1027G>A	7.37:g.101833102G>A	ENSP00000292535:p.Glu343Lys					CUX1_ENST00000556210.1_Missense_Mutation_p.E343K|CUX1_ENST00000549414.2_Missense_Mutation_p.E343K|CUX1_ENST00000437600.4_Missense_Mutation_p.E352K|CUX1_ENST00000550008.2_Missense_Mutation_p.E343K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.E308K|CUX1_ENST00000546411.2_Missense_Mutation_p.E343K|CUX1_ENST00000393824.3_Missense_Mutation_p.E315K|CUX1_ENST00000547394.2_Missense_Mutation_p.E338K|CUX1_ENST00000292538.4_Missense_Mutation_p.E354K|CUX1_ENST00000292535.7_Missense_Mutation_p.E343K	p.E354K	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			12	1080	+			343					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.1060G>A	CCDS5721.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.99|15.99	2.996793|2.996793	0.54147|0.54147	.|.	.|.	ENSG00000257923|ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210|ENST00000393824	T;T;T;T;T;T;T;T;T;T|.	0.61040|.	1.51;1.51;0.14;1.53;1.5;0.16;0.16;0.18;0.24;0.24|.	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	0.117279|.	0.56097|.	D|.	0.000023|.	T|T	0.46073|0.46073	0.1374|0.1374	N|N	0.11154|0.11154	0.105|0.105	0.58432|0.58432	D|D	0.999999|0.999999	B;D;P;B;B;B;D|.	0.58268|.	0.349;0.97;0.953;0.04;0.42;0.349;0.982|.	B;P;P;B;B;B;P|.	0.55615|.	0.038;0.607;0.551;0.041;0.061;0.041;0.78|.	T|T	0.41538|0.41538	-0.9503|-0.9503	10|5	0.36615|.	T|.	0.2|.	-26.8634|-26.8634	16.7159|16.7159	0.85397|0.85397	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	315;343;308;338;352;354;354|.	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3|.	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.|.	K|K	354;338;354;308;352;343;343;343;343;343|149	ENSP00000292538:E354K;ENSP00000449371:E338K;ENSP00000353401:E354K;ENSP00000409745:E308K;ENSP00000414091:E352K;ENSP00000292535:E343K;ENSP00000446630:E343K;ENSP00000447373:E343K;ENSP00000450125:E343K;ENSP00000451558:E343K|.	ENSP00000292535:E343K|.	E|R	+|+	1|2	0|0	CUX1|CUX1	101619822|101619822	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.297000|9.297000	0.96120|0.96120	2.429000|2.429000	0.82318|0.82318	0.561000|0.561000	0.74099|0.74099	GAA|AGA		0.537	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		12	40	0	0	0	1	0	12	40				
ZKSCAN7	55888	broad.mit.edu	37	3	44611629	44611629	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:44611629G>A	ENST00000273320.3	+	6	1456	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N	ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.D343N|RP11-944L7.4_ENST00000457331.1_RNA|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000431636.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	343					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)										GGAAATAACAGATGAAGATAA	0.383																																						ENST00000273320.3																			0											c.(1027-1029)Gat>Aat		zinc finger with KRAB and SCAN domains 7							86.0	91.0	90.0					3																	44611629		2203	4300	6503	SO:0001583	missense	55888							g.chr3:44611629G>A	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1027G>A	3.37:g.44611629G>A	ENSP00000273320:p.Asp343Asn					RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.D343N|ZKSCAN7_ENST00000341840.3_Intron	p.D343N	NM_018651.2	NP_061121.2					6	1456	+								A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	c.1027G>A	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	13.64	2.297051	0.40694	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000447279	T;T;T	0.05513	3.43;3.43;3.44	4.4	-2.02	0.07388	.	.	.	.	.	T	0.02267	0.0070	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.46624	-0.9178	9	0.15952	T	0.53	.	0.5682	0.00690	0.4128:0.155:0.1905:0.2417	.	213;343	A7MAY2;Q9P0L1	.;ZN167_HUMAN	N	343;343;192	ENSP00000395524:D343N;ENSP00000273320:D343N;ENSP00000405034:D192N	ENSP00000273320:D343N	D	+	1	0	ZNF167	44586633	0.007000	0.16637	0.000000	0.03702	0.085000	0.17905	0.752000	0.26362	-0.749000	0.04747	0.650000	0.86243	GAT		0.383	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		44	102	0	0	0	1	0	44	102				
DDX60	55601	broad.mit.edu	37	4	169173745	169173745	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:169173745T>C	ENST00000393743.3	-	27	3911	c.3620A>G	c.(3619-3621)cAt>cGt	p.H1207R	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1207					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TAGATTATCATGTTCAGCTTC	0.358																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(3619-3621)cAt>cGt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							278.0	264.0	269.0					4																	169173745		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169173745T>C	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3620A>G	4.37:g.169173745T>C	ENSP00000377344:p.His1207Arg					DDX60_ENST00000505393.1_5'UTR	p.H1207R	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	27	3911	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1207					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.3620A>G	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	T	1.683	-0.505980	0.04261	.	.	ENSG00000137628	ENST00000393743	T	0.40225	1.04	5.18	4.0	0.46444	.	0.342351	0.24991	N	0.033998	T	0.26738	0.0654	L	0.40543	1.245	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.18587	-1.0332	10	0.08599	T	0.76	.	6.3406	0.21321	0.1425:0.079:0.0:0.7785	.	1207	Q8IY21	DDX60_HUMAN	R	1207	ENSP00000377344:H1207R	ENSP00000377344:H1207R	H	-	2	0	DDX60	169410320	0.000000	0.05858	0.207000	0.23584	0.008000	0.06430	0.276000	0.18716	2.070000	0.61991	0.460000	0.39030	CAT		0.358	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		60	179	0	0	0	1	0	60	179				
VPS13B	157680	broad.mit.edu	37	8	100514039	100514039	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:100514039A>G	ENST00000358544.2	+	26	4106	c.3995A>G	c.(3994-3996)aAa>aGa	p.K1332R	VPS13B_ENST00000357162.2_Missense_Mutation_p.K1332R|VPS13B_ENST00000395996.1_Missense_Mutation_p.K1332R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1332					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTGCTTCCCAAAATTACTATA	0.453																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(3994-3996)aAa>aGa		vacuolar protein sorting 13 homolog B (yeast)							150.0	151.0	151.0					8																	100514039		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100514039A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3995A>G	8.37:g.100514039A>G	ENSP00000351346:p.Lys1332Arg					VPS13B_ENST00000358544.2_Missense_Mutation_p.K1332R|VPS13B_ENST00000357162.2_Missense_Mutation_p.K1332R	p.K1332R			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		26	4106	+	Breast(36;3.73e-07)		1332					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.3995A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880198	0.72294	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.49720	0.77;0.77;0.77	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	L	0.61218	1.895	0.51767	D	0.999935	D;D;D;D	0.89917	0.999;0.997;0.997;1.0	D;D;D;D	0.81914	0.995;0.986;0.985;0.994	T	0.64605	-0.6368	10	0.39692	T	0.17	.	15.385	0.74691	1.0:0.0:0.0:0.0	.	1331;1332;1332;1332	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	R	1332	ENSP00000349685:K1332R;ENSP00000351346:K1332R;ENSP00000379318:K1332R	ENSP00000349685:K1332R	K	+	2	0	VPS13B	100583215	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	8.988000	0.93501	2.093000	0.63338	0.455000	0.32223	AAA		0.453	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		91	147	0	0	0	1	0	91	147				
DRC1	92749	broad.mit.edu	37	2	26667099	26667099	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:26667099T>C	ENST00000288710.2	+	9	1112	c.1038T>C	c.(1036-1038)gaT>gaC	p.D346D	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	346					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											GCCTGCATGATATACTTAACA	0.413																																						ENST00000288710.2																			0											c.(1036-1038)gaT>gaC		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							107.0	99.0	102.0					2																	26667099		2203	4300	6503	SO:0001819	synonymous_variant	92749							g.chr2:26667099T>C	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1038T>C	2.37:g.26667099T>C						DRC1_ENST00000483675.1_3'UTR	p.D346D	NM_145038.2	NP_659475.2					9	1112	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	ENST00000288710.2	37	c.1038T>C	CCDS1723.1																																																																																				0.413	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		22	58	0	0	0	1	0	22	58				
TNFAIP3	7128	broad.mit.edu	37	6	138200106	138200106	+	Silent	SNP	C	C	T	rs368271377		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:138200106C>T	ENST00000237289.4	+	7	1590	c.1524C>T	c.(1522-1524)caC>caT	p.H508H		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	508	Interaction with TNIP1. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.A506fs*21(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		ACGCCAGCCACGCCCCAGACC	0.562			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4				Rec	yes		6	6q23	7128	"""D, N, F"""	"""tumor necrosis factor, alpha-induced protein 3"""			L			"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""		26	Whole gene deletion(25)|Deletion - Frameshift(1)	p.0?(25)|p.A506fs*21(1)	haematopoietic_and_lymphoid_tissue(26)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225						c.(1522-1524)caC>caT		tumor necrosis factor, alpha-induced protein 3		C		0,4406		0,0,2203	51.0	55.0	54.0		1524	1.3	0.0	6		54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TNFAIP3	NM_006290.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		508/791	138200106	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138200106C>T	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1524C>T	6.37:g.138200106C>T							p.H508H	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	7	1590	+	Breast(32;0.135)|Colorectal(23;0.24)		508			Interaction with NAF1 (By similarity).		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Silent	SNP	ENST00000237289.4	37	c.1524C>T	CCDS5187.1																																																																																				0.562	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			23	55	0	0	0	1	0	23	55				
CHRNA2	1135	broad.mit.edu	37	8	27327319	27327319	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:27327319T>A	ENST00000520933.2	-	2	406	c.253A>T	c.(253-255)Att>Ttt	p.I85F	CHRNA2_ENST00000407991.1_Missense_Mutation_p.I85F|CHRNA2_ENST00000240132.2_Intron			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	85					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	AAGCGCACAATCACCACGTCT	0.627																																						ENST00000407991.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(253-255)Att>Ttt		cholinergic receptor, nicotinic, alpha 2 (neuronal)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)						141.0	123.0	129.0					8																	27327319		2203	4300	6503	SO:0001583	missense	1135					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:27327319T>A	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.253A>T	8.37:g.27327319T>A	ENSP00000429616:p.Ile85Phe					CHRNA2_ENST00000520933.2_Missense_Mutation_p.I85F|CHRNA2_ENST00000240132.2_Intron	p.I85F	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	3	861	-		Ovarian(32;2.61e-05)	85					A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	c.253A>T	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	T	32	5.133181	0.94517	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000524096	T;T;T	0.78924	-1.22;-1.22;-1.22	4.77	4.77	0.60923	Neurotransmitter-gated ion-channel ligand-binding (3);	0.096182	0.64402	D	0.000001	T	0.79167	0.4400	L	0.48642	1.525	0.80722	D	1	P	0.51240	0.943	P	0.52672	0.706	T	0.81215	-0.1034	10	0.66056	D	0.02	.	12.557	0.56258	0.0:0.0:0.0:1.0	.	85	Q15822	ACHA2_HUMAN	F	85	ENSP00000385026:I85F;ENSP00000429616:I85F;ENSP00000430422:I85F	ENSP00000385026:I85F	I	-	1	0	CHRNA2	27383236	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.990000	0.56965	2.143000	0.66587	0.459000	0.35465	ATT		0.627	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			53	264	0	0	0	1	0	53	264				
OBSCN	84033	broad.mit.edu	37	1	228494170	228494170	+	Silent	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:228494170A>T	ENST00000422127.1	+	44	11801	c.11757A>T	c.(11755-11757)acA>acT	p.T3919T	OBSCN_ENST00000366707.4_Silent_p.T1553T|OBSCN_ENST00000284548.11_Silent_p.T3919T|OBSCN_ENST00000570156.2_Silent_p.T4876T|OBSCN_ENST00000366709.4_Silent_p.T1038T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3919	Ig-like 40.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACTGCTACAGTGGTCTGGA	0.672																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(14626-14628)acA>acT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							22.0	25.0	24.0					1																	228494170		1921	4113	6034	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228494170A>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11757A>T	1.37:g.228494170A>T						OBSCN_ENST00000366707.4_Silent_p.T1553T|OBSCN_ENST00000284548.11_Silent_p.T3919T|OBSCN_ENST00000422127.1_Silent_p.T3919T|OBSCN_ENST00000366709.4_Silent_p.T1038T	p.T4876T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			55	14702	+		Prostate(94;0.0405)	3919			IQ.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.14628A>T	CCDS58065.1																																																																																				0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		5	59	0	0	0	1	0	5	59				
SOX5	6660	broad.mit.edu	37	12	23696242	23696242	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:23696242A>G	ENST00000451604.2	-	13	1775	c.1674T>C	c.(1672-1674)cgT>cgC	p.R558R	SOX5_ENST00000309359.1_Silent_p.R545R|SOX5_ENST00000546136.1_Silent_p.R545R|SOX5_ENST00000541536.1_Silent_p.R437R|SOX5_ENST00000545921.1_Silent_p.R548R|SOX5_ENST00000396007.2_Silent_p.R172R|SOX5_ENST00000381381.2_Silent_p.R437R|SOX5_ENST00000537393.1_Silent_p.R523R			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	558					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CATTCATTGGACGCTTTATGT	0.463																																						ENST00000546136.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						c.(1633-1635)cgT>cgC		SRY (sex determining region Y)-box 5							207.0	180.0	189.0					12																	23696242		2203	4300	6503	SO:0001819	synonymous_variant	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23696242A>G	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1674T>C	12.37:g.23696242A>G						SOX5_ENST00000545921.1_Silent_p.R548R|SOX5_ENST00000396007.2_Silent_p.R172R|SOX5_ENST00000451604.2_Silent_p.R558R|SOX5_ENST00000537393.1_Silent_p.R523R|SOX5_ENST00000381381.2_Silent_p.R437R|SOX5_ENST00000309359.1_Silent_p.R545R|SOX5_ENST00000541536.1_Silent_p.R437R	p.R545R			P35711	SOX5_HUMAN			12	1637	-			558	E -> G (in Ref. 2; BAB85048).				B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Silent	SNP	ENST00000451604.2	37	c.1635T>C	CCDS8699.1																																																																																				0.463	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		7	165	0	0	0	1	0	7	165				
RAD54B	25788	broad.mit.edu	37	8	95470494	95470494	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:95470494A>G	ENST00000336148.5	-	3	429		c.e3+1		RAD54B_ENST00000297592.5_Splice_Site	NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)						ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AAGCAGTCTTACCTGTATGAG	0.299								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.e3+1	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							149.0	142.0	144.0					8																	95470494		2203	4299	6502	SO:0001630	splice_region_variant	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95470494A>G	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.304+1T>C	8.37:g.95470494A>G						RAD54B_ENST00000297592.5_Splice_Site		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		3	429	-	Breast(36;4.5e-05)							F6WBS8	Splice_Site	SNP	ENST00000336148.5	37		CCDS6262.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.702518	0.68501	.	.	ENSG00000197275	ENST00000336148;ENST00000523839;ENST00000297592	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1315	0.53946	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAD54B	95539670	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.379000	0.59575	2.288000	0.76882	0.528000	0.53228	.		0.299	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415	Intron	25	129	0	0	0	1	0	25	129				
SH3BP4	23677	broad.mit.edu	37	2	235950891	235950891	+	Missense_Mutation	SNP	C	C	T	rs199703796		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:235950891C>T	ENST00000409212.1	+	4	1985	c.1478C>T	c.(1477-1479)aCc>aTc	p.T493I	SH3BP4_ENST00000392011.2_Missense_Mutation_p.T493I|SH3BP4_ENST00000344528.4_Missense_Mutation_p.T493I			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	493					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		ACGGTAGTGACCATTTTTGGG	0.572																																						ENST00000409212.1																			0				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.(1477-1479)aCc>aTc		SH3-domain binding protein 4							76.0	80.0	78.0					2																	235950891		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235950891C>T	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.1478C>T	2.37:g.235950891C>T	ENSP00000386862:p.Thr493Ile					SH3BP4_ENST00000392011.2_Missense_Mutation_p.T493I|SH3BP4_ENST00000344528.4_Missense_Mutation_p.T493I	p.T493I			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	1985	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	493					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.1478C>T	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786921	0.31593	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528	T;T;T	0.10288	2.89;2.89;2.89	5.18	5.18	0.71444	.	0.107465	0.64402	D	0.000007	T	0.12518	0.0304	L	0.45137	1.4	0.40778	D	0.983149	B;B	0.24533	0.105;0.062	B;B	0.20955	0.032;0.032	T	0.04413	-1.0953	10	0.45353	T	0.12	2.5089	17.259	0.87064	0.0:1.0:0.0:0.0	.	493;493	A8K594;Q9P0V3	.;SH3B4_HUMAN	I	493	ENSP00000375867:T493I;ENSP00000386862:T493I;ENSP00000340237:T493I	ENSP00000340237:T493I	T	+	2	0	SH3BP4	235615630	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.740000	0.68629	2.411000	0.81874	0.655000	0.94253	ACC		0.572	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			27	71	0	0	0	1	0	27	71				
CC2D2B	387707	broad.mit.edu	37	10	97779080	97779080	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:97779080T>C	ENST00000344386.3	+	7	807	c.643T>C	c.(643-645)Ttt>Ctt	p.F215L	ENTPD1-AS1_ENST00000449197.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.F215L|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	215										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		AGATTGTTTGTTTGATGATAG	0.358																																						ENST00000344386.3																			0				large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10						c.(643-645)Ttt>Ctt		coiled-coil and C2 domain containing 2B							121.0	119.0	119.0					10																	97779080		1827	4079	5906	SO:0001583	missense	387707							g.chr10:97779080T>C	BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.643T>C	10.37:g.97779080T>C	ENSP00000343747:p.Phe215Leu					ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.F215L|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000371198.2_Intron|RP11-690P14.4_ENST00000475252.2_Intron	p.F215L	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	7	807	+		Colorectal(252;0.158)	215					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Missense_Mutation	SNP	ENST00000344386.3	37	c.643T>C	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	T	17.35	3.368230	0.61513	.	.	ENSG00000188649	ENST00000451649;ENST00000410012;ENST00000344386	T;T	0.70045	-0.45;-0.45	6.13	4.94	0.65067	.	.	.	.	.	T	0.67031	0.2850	M	0.71581	2.175	0.32127	N	0.587203	P;P	0.43287	0.802;0.562	B;B	0.44044	0.231;0.439	T	0.74106	-0.3772	9	0.44086	T	0.13	.	8.8464	0.35172	0.2405:0.0:0.0:0.7595	.	215;215	E9PCC3;Q6DHV5	.;C2D2B_HUMAN	L	215	ENSP00000386988:F215L;ENSP00000343747:F215L	ENSP00000343747:F215L	F	+	1	0	CC2D2B	97769070	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.163000	0.42377	2.364000	0.80123	0.524000	0.50904	TTT		0.358	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732		21	49	0	0	0	1	0	21	49				
EPHA8	2046	broad.mit.edu	37	1	22920126	22920126	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:22920126C>G	ENST00000166244.3	+	7	1622	c.1550C>G	c.(1549-1551)tCa>tGa	p.S517*		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	517	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCCGCACCTCAGCAGGCTGT	0.697																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(1549-1551)tCa>tGa		EPH receptor A8							20.0	22.0	21.0					1																	22920126		2192	4298	6490	SO:0001587	stop_gained	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22920126C>G	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1550C>G	1.37:g.22920126C>G	ENSP00000166244:p.Ser517*						p.S517*	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	7	1622	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	517			Fibronectin type-III 2.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Nonsense_Mutation	SNP	ENST00000166244.3	37	c.1550C>G	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	37	6.302121	0.97458	.	.	ENSG00000070886	ENST00000166244	.	.	.	3.85	3.85	0.44370	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	14.8477	0.70272	0.0:1.0:0.0:0.0	.	.	.	.	X	517	.	ENSP00000166244:S517X	S	+	2	0	EPHA8	22792713	0.997000	0.39634	0.929000	0.37066	0.572000	0.35998	5.863000	0.69568	2.138000	0.66242	0.655000	0.94253	TCA		0.697	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		5	13	0	0	0	1	0	5	13				
USP10	9100	broad.mit.edu	37	16	84806196	84806196	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:84806196T>C	ENST00000219473.7	+	12	2161	c.2048T>C	c.(2047-2049)gTg>gCg	p.V683A	USP10_ENST00000570191.1_Missense_Mutation_p.V687A	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	683	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CCTGTCCTCGTGCTGCACCTG	0.443																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(2047-2049)gTg>gCg		ubiquitin specific peptidase 10							190.0	187.0	188.0					16																	84806196		1987	4162	6149	SO:0001583	missense	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84806196T>C	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.2048T>C	16.37:g.84806196T>C	ENSP00000219473:p.Val683Ala					USP10_ENST00000570191.1_Missense_Mutation_p.V687A	p.V683A	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			12	2161	+			683					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.2048T>C	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.984339	0.53934	.	.	ENSG00000103194	ENST00000219473	T	0.31510	1.49	4.38	4.38	0.52667	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.070568	0.56097	D	0.000025	T	0.46073	0.1374	L	0.43701	1.375	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.74023	0.982;0.977	T	0.46721	-0.9171	10	0.87932	D	0	-15.1772	13.0793	0.59104	0.0:0.0:0.0:1.0	.	687;683	Q14694-3;Q14694	.;UBP10_HUMAN	A	683	ENSP00000219473:V683A	ENSP00000219473:V683A	V	+	2	0	USP10	83363697	1.000000	0.71417	0.474000	0.27266	0.199000	0.23934	7.462000	0.80851	1.752000	0.51891	0.460000	0.39030	GTG		0.443	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			22	243	0	0	0	1	0	22	243				
MTHFD1	4522	broad.mit.edu	37	14	64892912	64892912	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:64892912T>C	ENST00000545908.1	+	11	1524		c.e11+2		CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Splice_Site			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase						folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GGTGACTGGGTATGCTTTTTA	0.438																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	ENST00000555709.1																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.e11+2		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						99.0	84.0	89.0					14																	64892912		2203	4300	6503	SO:0001630	splice_region_variant	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64892912T>C	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.1295+2T>C	14.37:g.64892912T>C						MTHFD1_ENST00000545908.1_Splice_Site|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000555252.1_Splice_Site|MTHFD1_ENST00000216605.7_Splice_Site		NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	11	1514	+								B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Splice_Site	SNP	ENST00000545908.1	37			.	.	.	.	.	.	.	.	.	.	T	17.68	3.448552	0.63178	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8615	0.79026	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTHFD1	63962665	1.000000	0.71417	0.996000	0.52242	0.642000	0.38348	7.756000	0.85195	2.333000	0.79357	0.533000	0.62120	.		0.438	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1		Intron	13	100	0	0	0	1	0	13	100				
SSH1	54434	broad.mit.edu	37	12	109196115	109196115	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:109196115C>A	ENST00000326495.5	-	11	1077	c.984G>T	c.(982-984)gaG>gaT	p.E328D	SSH1_ENST00000551165.1_Missense_Mutation_p.E328D|SSH1_ENST00000326470.5_Missense_Mutation_p.E339D|SSH1_ENST00000360239.3_Intron	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	328	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTGCAGTTCCTCCAGATTGG	0.572																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(982-984)gaG>gaT		slingshot protein phosphatase 1							103.0	90.0	95.0					12																	109196115		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109196115C>A	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.984G>T	12.37:g.109196115C>A	ENSP00000315713:p.Glu328Asp					SSH1_ENST00000360239.3_Intron|SSH1_ENST00000326470.5_Missense_Mutation_p.E339D|SSH1_ENST00000551165.1_Missense_Mutation_p.E328D	p.E328D	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			11	1077	-			328			Tyrosine-protein phosphatase.		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.984G>T	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.014239	0.54468	.	.	ENSG00000084112	ENST00000326495;ENST00000551165;ENST00000326470	T;T;T	0.39229	1.09;1.09;1.09	6.07	4.27	0.50696	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.28699	0.0711	L	0.28274	0.84	0.80722	D	1	B;B;B	0.30824	0.019;0.296;0.025	B;B;B	0.25140	0.014;0.058;0.031	T	0.04053	-1.0981	10	0.33141	T	0.24	-41.3222	12.6472	0.56742	0.0:0.8656:0.0:0.1344	.	339;328;328	Q8WYL5-5;Q8WYL5-2;Q8WYL5	.;.;SSH1_HUMAN	D	328;328;339	ENSP00000315713:E328D;ENSP00000448824:E328D;ENSP00000326107:E339D	ENSP00000326107:E339D	E	-	3	2	SSH1	107720244	0.971000	0.33674	1.000000	0.80357	0.995000	0.86356	0.173000	0.16724	0.911000	0.36747	-0.140000	0.14226	GAG		0.572	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		24	33	1	0	1.85244e-09	1	1.91616e-09	24	33				
ATP2A3	489	broad.mit.edu	37	17	3828691	3828691	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:3828691G>A	ENST00000352011.3	-	22	3167	c.3113C>T	c.(3112-3114)cCg>cTg	p.P1038L	ATP2A3_ENST00000397041.3_3'UTR|ATP2A3_ENST00000397039.1_Splice_Site_p.P212L|ATP2A3_ENST00000397043.3_3'UTR|ATP2A3_ENST00000309890.7_3'UTR|ATP2A3_ENST00000397035.3_3'UTR|ATP2A3_ENST00000359983.3_3'UTR			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	1038					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGTACACACCGGAGACTCCAC	0.572																																					GBM(32;29 774 15719 37967)	ENST00000352011.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(3112-3114)cCg>cTg		ATPase, Ca++ transporting, ubiquitous							140.0	130.0	133.0					17																	3828691		2203	4300	6503	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3828691G>A		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.3113C>T	17.37:g.3828691G>A	ENSP00000301387:p.Pro1038Leu					ATP2A3_ENST00000397041.3_3'UTR|ATP2A3_ENST00000397039.1_Splice_Site_p.P212_splice|ATP2A3_ENST00000397035.3_3'UTR|ATP2A3_ENST00000359983.3_3'UTR|ATP2A3_ENST00000309890.7_3'UTR|ATP2A3_ENST00000397043.3_3'UTR	p.P1038L			Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	22	3167	-			1038					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.3113C>T	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941904	0.34283	.	.	ENSG00000074370	ENST00000397039;ENST00000352011	T;D	0.94280	-0.29;-3.39	3.65	2.68	0.31781	.	.	.	.	.	D	0.85605	0.5735	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.0	B;B	0.06405	0.002;0.0	T	0.79057	-0.1959	9	0.33940	T	0.23	.	7.1628	0.25672	0.1224:0.0:0.8776:0.0	.	137;1038	Q6JHX1;Q93084	.;AT2A3_HUMAN	L	212;1038	ENSP00000380232:P212L;ENSP00000301387:P1038L	ENSP00000301387:P1038L	P	-	2	0	ATP2A3	3775440	0.954000	0.32549	0.512000	0.27736	0.135000	0.20990	2.392000	0.44433	1.132000	0.42129	0.491000	0.48974	CCG		0.572	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		6	30	0	0	0	1	0	6	30				
SPCS1	28972	broad.mit.edu	37	3	52740853	52740853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52740853G>A	ENST00000602728.1	+	3	310	c.141G>A	c.(139-141)tgG>tgA	p.W47*	GLT8D1_ENST00000407584.3_5'Flank|GLT8D1_ENST00000266014.5_5'Flank|SPCS1_ENST00000233025.7_Nonsense_Mutation_p.W114*|GLT8D1_ENST00000491606.1_5'Flank|SPCS1_ENST00000423431.1_Nonsense_Mutation_p.W25*|GLT8D1_ENST00000478968.2_5'Flank			Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	47					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		AGTTCGGGTGGACTGTCTATA	0.438																																						ENST00000233025.7																			0				kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6						c.(340-342)tgG>tgA		signal peptidase complex subunit 1 homolog (S. cerevisiae)							321.0	320.0	320.0					3																	52740853		2203	4300	6503	SO:0001587	stop_gained	28972				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity	g.chr3:52740853G>A	AF092138	CCDS33769.2	3p21.31	2005-01-05			ENSG00000114902	ENSG00000114902			23401	protein-coding gene	gene with protein product		610358				8632014	Standard	NM_014041		Approved	SPC12, HSPC033, YJR010C-A, SPC1	uc011bei.2	Q9Y6A9	OTTHUMG00000154930	ENST00000602728.1:c.141G>A	3.37:g.52740853G>A	ENSP00000473265:p.Trp47*					SPCS1_ENST00000423431.1_Nonsense_Mutation_p.W25*|SPCS1_ENST00000602728.1_Nonsense_Mutation_p.W47*	p.W114*	NM_014041.3	NP_054760.3	Q9Y6A9	SPCS1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)	3	752	+			114					B3KNF8|Q9BVW1	Nonsense_Mutation	SNP	ENST00000602728.1	37	c.342G>A		.	.	.	.	.	.	.	.	.	.	G	39	7.780674	0.98486	.	.	ENSG00000114902	ENST00000423431;ENST00000233025	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5256	19.7622	0.96325	0.0:0.0:1.0:0.0	.	.	.	.	X	25;114	.	ENSP00000233025:W114X	W	+	3	0	SPCS1	52715893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.958000	0.93099	2.732000	0.93576	0.650000	0.86243	TGG		0.438	SPCS1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467759.1	NM_014041		52	200	0	0	0	1	0	52	200				
ARHGAP27	201176	broad.mit.edu	37	17	43474094	43474094	+	Missense_Mutation	SNP	G	G	A	rs531423719		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:43474094G>A	ENST00000428638.1	-	12	2013	c.2014C>T	c.(2014-2016)Cgc>Tgc	p.R672C	CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000532038.1_Missense_Mutation_p.R450C|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R645C|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R331C|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R331C|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R650C|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R304C			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	672					positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					AGGAACTTGCGGAGCTTGTGC	0.711													G|||	1	0.000199681	0.0	0.0	5008	,	,		13463	0.0		0.0	False		,,,				2504	0.001					ENST00000532038.1																			0				endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17						c.(1348-1350)Cgc>Tgc		Rho GTPase activating protein 27							28.0	36.0	33.0					17																	43474094		2201	4295	6496	SO:0001583	missense	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43474094G>A	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.2014C>T	17.37:g.43474094G>A	ENSP00000403323:p.Arg672Cys					ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R672C|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R650C|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R645C|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R331C|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R304C|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R331C	p.R450C			Q6ZUM4	RHG27_HUMAN			11	1483	-	Renal(3;0.0405)		672					A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Missense_Mutation	SNP	ENST00000428638.1	37	c.1348C>T		.	.	.	.	.	.	.	.	.	.	G	21.4	4.138894	0.77775	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881	T;T;T;T;T;T;T	0.09911	2.93;2.97;2.98;2.96;2.98;2.98;2.97	4.26	3.28	0.37604	.	0.352416	0.23949	N	0.042976	T	0.19406	0.0466	M	0.70275	2.135	0.80722	D	1	D;D	0.69078	0.993;0.997	P;P	0.50896	0.653;0.549	T	0.01390	-1.1367	10	0.87932	D	0	.	9.3572	0.38173	0.0:0.0:0.6113:0.3887	.	645;672	F8WBX1;Q6ZUM4	.;RHG27_HUMAN	C	450;331;304;650;672;645;331	ENSP00000432762:R450C;ENSP00000366121:R331C;ENSP00000431591:R304C;ENSP00000433942:R650C;ENSP00000403323:R672C;ENSP00000409330:R645C;ENSP00000408235:R331C	ENSP00000366121:R331C	R	-	1	0	ARHGAP27	40829877	0.970000	0.33590	0.585000	0.28666	0.935000	0.57460	4.646000	0.61411	0.991000	0.38814	0.455000	0.32223	CGC		0.711	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		7	48	0	0	0	1	0	7	48				
SLC4A8	9498	broad.mit.edu	37	12	51879581	51879581	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:51879581T>C	ENST00000453097.2	+	17	2400	c.2183T>C	c.(2182-2184)aTg>aCg	p.M728T	SLC4A8_ENST00000358657.3_Missense_Mutation_p.M755T	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GTACGCTCCATGGTGAGTGAC	0.398																																						ENST00000453097.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55						c.(2182-2184)aTg>aCg		solute carrier family 4, sodium bicarbonate cotransporter, member 8							203.0	150.0	168.0					12																	51879581		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51879581T>C	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2183T>C	12.37:g.51879581T>C	ENSP00000405812:p.Met728Thr					SLC4A8_ENST00000358657.3_Missense_Mutation_p.M755T	p.M728T	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	17	2400	+			728						Missense_Mutation	SNP	ENST00000453097.2	37	c.2183T>C	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	T	7.693	0.691443	0.15039	.	.	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000319957;ENST00000551071	T;T	0.78126	-1.15;-1.15	5.42	1.65	0.23941	Bicarbonate transporter, C-terminal (1);	0.196109	0.64402	N	0.000011	T	0.51160	0.1658	N	0.03209	-0.39	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.19647	-1.0299	10	0.22109	T	0.4	.	9.3747	0.38275	0.0:0.2057:0.0:0.7943	.	755;728;728	Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;S4A8_HUMAN;.	T	755;728;728;675	ENSP00000351483:M755T;ENSP00000405812:M728T	ENSP00000315789:M728T	M	+	2	0	SLC4A8	50165848	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.134000	0.31442	0.096000	0.17463	0.482000	0.46254	ATG		0.398	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		15	96	0	0	0	1	0	15	96				
PROZ	8858	broad.mit.edu	37	13	113826404	113826404	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:113826404A>G	ENST00000375547.2	+	8	1195	c.1188A>G	c.(1186-1188)aaA>aaG	p.K396K	PROZ_ENST00000342783.4_Silent_p.K418K	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	396	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TCTGGTTTAAACAGATCATGA	0.547																																						ENST00000342783.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16						c.(1252-1254)aaA>aaG		protein Z, vitamin K-dependent plasma glycoprotein	Menadione(DB00170)						26.0	22.0	23.0					13																	113826404		2161	4231	6392	SO:0001819	synonymous_variant	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113826404A>G	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.1188A>G	13.37:g.113826404A>G						PROZ_ENST00000375547.2_Silent_p.K396K	p.K418K	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	all cancers(43;0.104)		9	1261	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	396					A6NMB4|Q15213|Q5JVF5|Q5JVF6	Silent	SNP	ENST00000375547.2	37	c.1254A>G	CCDS9531.1																																																																																				0.547	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		4	30	0	0	0	1	0	4	30				
MUC6	4588	broad.mit.edu	37	11	1017584	1017584	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1017584T>C	ENST00000421673.2	-	31	5267	c.5217A>G	c.(5215-5217)tcA>tcG	p.S1739S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1739	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGTGCTAAATGAGCTTCGGG	0.542																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(5215-5217)tcA>tcG		mucin 6, oligomeric mucus/gel-forming							643.0	632.0	636.0					11																	1017584		2184	4280	6464	SO:0001819	synonymous_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017584T>C	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5217A>G	11.37:g.1017584T>C							p.S1739S	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5267	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1739			Approximate repeats.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	c.5217A>G	CCDS44513.1																																																																																				0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		116	799	0	0	0	1	0	116	799				
EIF4A1	1973	broad.mit.edu	37	17	7476073	7476073	+	5'Flank	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:7476073C>T	ENST00000293831.8	+	0	0				EIF4A1_ENST00000577269.1_5'Flank|EIF4A1_ENST00000582746.1_5'Flank|SNORA48_ENST00000386847.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000380512.5_5'Flank	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1						cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						GGGGCCGGGGCGGCCAAACCA	0.627																																					Melanoma(120;278 1668 15796 27423 46368)	ENST00000579777.1																			0																				24.0	30.0	28.0					17																	7476073		692	1591	2283	SO:0001631	upstream_gene_variant	100533955							g.chr17:7476073C>T	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149		17.37:g.7476073C>T	Exception_encountered							NR_037926.1						0	1984	+								B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	RNA	SNP	ENST00000293831.8	37		CCDS11113.1																																																																																				0.627	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226952.6	NM_001416		6	37	0	0	0	1	0	6	37				
FBXO34	55030	broad.mit.edu	37	14	55817973	55817973	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:55817973G>A	ENST00000313833.4	+	2	1110	c.865G>A	c.(865-867)Gag>Aag	p.E289K	FBXO34_ENST00000440021.1_Missense_Mutation_p.E289K	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	289										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GTTGGAGTCTGAGTGCCTGAA	0.532																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(865-867)Gag>Aag		F-box protein 34							107.0	108.0	108.0					14																	55817973		2203	4300	6503	SO:0001583	missense	55030							g.chr14:55817973G>A	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.865G>A	14.37:g.55817973G>A	ENSP00000313159:p.Glu289Lys					FBXO34_ENST00000440021.1_Missense_Mutation_p.E289K	p.E289K	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	1110	+			289					Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.865G>A	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472371	0.63737	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.51325	0.71;0.71	5.48	3.65	0.41850	.	0.145664	0.45126	D	0.000386	T	0.45316	0.1336	M	0.69823	2.125	0.49687	D	0.999813	P	0.40211	0.707	B	0.36244	0.22	T	0.49360	-0.8948	10	0.62326	D	0.03	-17.3581	11.3683	0.49686	0.068:0.1266:0.8054:0.0	.	289	Q9NWN3	FBX34_HUMAN	K	289	ENSP00000313159:E289K;ENSP00000394117:E289K	ENSP00000313159:E289K	E	+	1	0	FBXO34	54887726	1.000000	0.71417	0.746000	0.31095	0.640000	0.38277	4.837000	0.62796	0.864000	0.35578	0.650000	0.86243	GAG		0.532	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			47	193	0	0	0	1	0	47	193				
TAF6	6878	broad.mit.edu	37	7	99705144	99705144	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:99705144T>C	ENST00000344095.4	-	15	2284	c.1759A>G	c.(1759-1761)Acc>Gcc	p.T587A	TAF6_ENST00000453269.2_Missense_Mutation_p.T587A|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000452041.1_Missense_Mutation_p.T587A|TAF6_ENST00000472509.1_Missense_Mutation_p.T644A|TAF6_ENST00000418432.2_Missense_Mutation_p.T511A|TAF6_ENST00000437822.2_Missense_Mutation_p.T624A	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	587					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTGGTGGCGGTGGAGACCAAC	0.662																																						ENST00000344095.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26						c.(1759-1761)Acc>Gcc		TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa							104.0	103.0	104.0					7																	99705144		2203	4300	6503	SO:0001583	missense	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99705144T>C		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1759A>G	7.37:g.99705144T>C	ENSP00000344537:p.Thr587Ala					TAF6_ENST00000453269.2_Missense_Mutation_p.T587A|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000452041.1_Missense_Mutation_p.T587A|TAF6_ENST00000472509.1_Missense_Mutation_p.T644A|TAF6_ENST00000437822.2_Missense_Mutation_p.T624A|TAF6_ENST00000418432.2_Missense_Mutation_p.T511A	p.T587A	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN			15	2284	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		587					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	c.1759A>G	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.607405	0.46527	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822	T;T;T;T;T	0.45276	0.93;0.9;0.93;0.93;0.91	5.92	5.92	0.95590	.	0.402359	0.23654	N	0.045898	T	0.23210	0.0561	N	0.14661	0.345	0.27576	N	0.949738	P;P;P;P;P	0.41929	0.765;0.759;0.646;0.646;0.646	B;B;B;B;B	0.37239	0.209;0.244;0.074;0.074;0.124	T	0.11991	-1.0565	10	0.09338	T	0.73	-8.3089	12.7504	0.57306	0.0:0.0:0.0:1.0	.	624;577;577;587;511	B4DT11;P49848-2;A4D299;P49848;B3KUR4	.;.;.;TAF6_HUMAN;.	A	587;644;587;587;511;624	ENSP00000389575:T587A;ENSP00000419760:T644A;ENSP00000416396:T587A;ENSP00000344537:T587A;ENSP00000399982:T624A	ENSP00000344537:T587A	T	-	1	0	TAF6	99543080	1.000000	0.71417	0.991000	0.47740	0.973000	0.67179	2.240000	0.43088	2.267000	0.75376	0.520000	0.50463	ACC		0.662	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		45	127	0	0	0	1	0	45	127				
F2R	2149	broad.mit.edu	37	5	76028487	76028487	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:76028487C>T	ENST00000319211.4	+	2	702	c.437C>T	c.(436-438)aCg>aTg	p.T146M		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	146					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|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 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CACCTGGCCACGGCAGATGTG	0.498																																						ENST00000319211.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16						c.(436-438)aCg>aTg		coagulation factor II (thrombin) receptor	Streptokinase(DB00086)						155.0	158.0	157.0					5																	76028487		2203	4300	6503	SO:0001583	missense	2149				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	g.chr5:76028487C>T	M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.437C>T	5.37:g.76028487C>T	ENSP00000321326:p.Thr146Met						p.T146M	NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN		all cancers(79;4.43e-43)	2	702	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)	146					Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	ENST00000319211.4	37	c.437C>T	CCDS4032.1	.	.	.	.	.	.	.	.	.	.	C	6.934	0.541990	0.13250	.	.	ENSG00000181104	ENST00000319211	T	0.37235	1.21	4.89	-2.97	0.05530	GPCR, rhodopsin-like superfamily (1);	0.857432	0.10825	N	0.629971	T	0.16854	0.0405	N	0.03608	-0.345	0.09310	N	1	B	0.19817	0.039	B	0.16722	0.016	T	0.16070	-1.0415	10	0.39692	T	0.17	-1.1059	13.8851	0.63704	0.0:0.2405:0.0:0.7595	.	146	P25116	PAR1_HUMAN	M	146	ENSP00000321326:T146M	ENSP00000321326:T146M	T	+	2	0	F2R	76064243	0.001000	0.12720	0.018000	0.16275	0.759000	0.43091	-0.438000	0.06905	-0.789000	0.04498	0.561000	0.74099	ACG		0.498	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254068.2			55	196	0	0	0	1	0	55	196				
ZNF629	23361	broad.mit.edu	37	16	30794696	30794696	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30794696T>C	ENST00000262525.4	-	3	1160	c.953A>G	c.(952-954)tAc>tGc	p.Y318C		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGTGCAGCGGTATGGCTTCTC	0.627																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(952-954)tAc>tGc		zinc finger protein 629							62.0	72.0	69.0					16																	30794696		2193	4299	6492	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794696T>C	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.953A>G	16.37:g.30794696T>C	ENSP00000262525:p.Tyr318Cys						p.Y318C	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	1160	-			318					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.953A>G	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.422311	0.43020	.	.	ENSG00000102870	ENST00000262525	T	0.25414	1.8	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000920	T	0.53126	0.1777	M	0.85041	2.73	0.34243	D	0.677827	D	0.89917	1.0	D	0.87578	0.998	T	0.70575	-0.4834	10	0.72032	D	0.01	-49.5347	10.4846	0.44713	0.1455:0.0:0.0:0.8545	.	318	Q9UEG4	ZN629_HUMAN	C	318	ENSP00000262525:Y318C	ENSP00000262525:Y318C	Y	-	2	0	ZNF629	30702197	0.020000	0.18652	0.990000	0.47175	0.995000	0.86356	0.271000	0.18626	2.125000	0.65367	0.459000	0.35465	TAC		0.627	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		37	108	0	0	0	1	0	37	108				
OGFOD1	55239	broad.mit.edu	37	16	56509460	56509460	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:56509460A>G	ENST00000566157.1	+	12	1573	c.1450A>G	c.(1450-1452)Aaa>Gaa	p.K484E	OGFOD1_ENST00000568397.1_Missense_Mutation_p.K441E	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	484					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	TTACATTGCCAAAGGTGAAGA	0.368																																						ENST00000566157.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(1450-1452)Aaa>Gaa		2-oxoglutarate and iron-dependent oxygenase domain containing 1	Vitamin C(DB00126)						151.0	145.0	147.0					16																	56509460		2198	4300	6498	SO:0001583	missense	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56509460A>G	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.1450A>G	16.37:g.56509460A>G	ENSP00000457258:p.Lys484Glu					OGFOD1_ENST00000568397.1_Missense_Mutation_p.K441E	p.K484E	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN			12	1573	+			484					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	ENST00000566157.1	37	c.1450A>G	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	A	18.09	3.545632	0.65198	.	.	ENSG00000087263	ENST00000336111;ENST00000540727	.	.	.	5.98	5.98	0.97165	Oxoglutarate/iron-dependent oxygenase, C-terminal degradation domain (1);	0.124685	0.64402	D	0.000001	T	0.59985	0.2234	L	0.55481	1.735	0.80722	D	1	P	0.41008	0.735	P	0.46510	0.519	T	0.54774	-0.8243	9	0.13108	T	0.6	-10.7713	16.4781	0.84144	1.0:0.0:0.0:0.0	.	484	Q8N543	OGFD1_HUMAN	E	484;328	.	ENSP00000337196:K484E	K	+	1	0	OGFOD1	55066961	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.235000	0.72332	2.288000	0.76882	0.528000	0.53228	AAA		0.368	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		19	80	0	0	0	1	0	19	80				
SEMG1	6406	broad.mit.edu	37	20	43837051	43837051	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:43837051A>G	ENST00000372781.3	+	2	1170	c.1113A>G	c.(1111-1113)caA>caG	p.Q371Q	SEMG1_ENST00000244069.6_Silent_p.Q311Q	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	371	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATGTATCCCAACGCAGTATTT	0.413																																						ENST00000372781.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32						c.(1111-1113)caA>caG		semenogelin I							77.0	71.0	73.0					20																	43837051		2203	4300	6503	SO:0001819	synonymous_variant	6406							g.chr20:43837051A>G		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1113A>G	20.37:g.43837051A>G						SEMG1_ENST00000244069.6_Silent_p.Q311Q	p.Q371Q	NM_003007.3	NP_002998.1					2	1170	+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Silent	SNP	ENST00000372781.3	37	c.1113A>G	CCDS13345.1																																																																																				0.413	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		24	78	0	0	0	1	0	24	78				
SIK3	23387	broad.mit.edu	37	11	116767008	116767008	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:116767008G>T	ENST00000292055.4	-	6	687	c.652C>A	c.(652-654)Ctg>Atg	p.L218M	SIK3_ENST00000542607.1_Missense_Mutation_p.L218M|SIK3_ENST00000446921.2_Missense_Mutation_p.L276M|SIK3_ENST00000434315.2_Missense_Mutation_p.L117M|SIK3_ENST00000375300.1_Missense_Mutation_p.L276M|SIK3_ENST00000375288.1_De_novo_Start_OutOfFrame	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	218	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TTTCCACTCAGCACGCGGGCC	0.517																																						ENST00000375288.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57								SIK family kinase 3							115.0	111.0	112.0					11																	116767008		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116767008G>T	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.652C>A	11.37:g.116767008G>T	ENSP00000292055:p.Leu218Met					SIK3_ENST00000542607.1_Missense_Mutation_p.L218M|SIK3_ENST00000375300.1_Missense_Mutation_p.L276M|SIK3_ENST00000446921.2_Missense_Mutation_p.L276M|SIK3_ENST00000292055.4_Missense_Mutation_p.L218M|SIK3_ENST00000434315.2_Missense_Mutation_p.L117M				Q9Y2K2	SIK3_HUMAN			0	687	-								A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Translation_Start_Site	SNP	ENST00000292055.4	37		CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.212406|4.212406	0.79240|0.79240	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921;ENST00000413553|ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	.|T;T;T;T	.|0.68765	.|-0.35;-0.35;-0.35;-0.35	5.49|5.49	3.53|3.53	0.40419|0.40419	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.33364	.|U	.|0.004988	T|T	0.72334|0.72334	0.3447|0.3447	L|L	0.39245|0.39245	1.2|1.2	0.80722|0.80722	D|D	1|1	.|D;P;D	.|0.59767	.|0.986;0.657;0.97	.|D;P;P	.|0.64144	.|0.922;0.489;0.893	T|T	0.73633|0.73633	-0.3921|-0.3921	5|10	.|0.87932	.|D	.|0	.|.	13.0684|13.0684	0.59046|0.59046	0.0983:0.0:0.9017:0.0|0.0983:0.0:0.9017:0.0	.|.	.|218;117;218	.|A1A5A8;A1A5A9;Q9Y2K2	.|.;.;SIK3_HUMAN	D|M	269;240;178|276;218;218;117	.|ENSP00000364449:L276M;ENSP00000292055:L218M;ENSP00000438108:L218M;ENSP00000415873:L117M	.|ENSP00000292055:L218M	A|L	-|-	2|1	0|2	SIK3|SIK3	116272218|116272218	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	5.379000|5.379000	0.66196|0.66196	0.576000|0.576000	0.29452|0.29452	0.563000|0.563000	0.77884|0.77884	GCT|CTG		0.517	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		52	122	1	0	1.32667e-27	1	1.40583e-27	52	122				
ARHGAP6	395	broad.mit.edu	37	X	11682447	11682447	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:11682447C>T	ENST00000337414.4	-	1	1374	c.502G>A	c.(502-504)Gct>Act	p.A168T	ARHGAP6_ENST00000380718.1_Missense_Mutation_p.A168T|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.A168T	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	168					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTAGGAGAAGCGAAGATGCCA	0.647																																						ENST00000337414.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(502-504)Gct>Act		Rho GTPase activating protein 6							30.0	31.0	31.0					X																	11682447		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11682447C>T	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.502G>A	X.37:g.11682447C>T	ENSP00000338967:p.Ala168Thr					ARHGAP6_ENST00000380718.1_Missense_Mutation_p.A168T|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.A168T	p.A168T	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN			1	1374	-			168					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.502G>A	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	C	3.650	-0.071694	0.07228	.	.	ENSG00000047648	ENST00000337414;ENST00000380718;ENST00000380732	T;T;T	0.21191	2.11;2.03;2.02	4.63	-9.26	0.00662	.	.	.	.	.	T	0.06280	0.0162	N	0.08118	0	0.43703	D	0.996167	B;B	0.10296	0.003;0.001	B;B	0.04013	0.001;0.0	T	0.30851	-0.9964	9	0.07990	T	0.79	.	7.3263	0.26557	0.207:0.5073:0.0:0.2857	.	168;168	O43182-2;O43182	.;RHG06_HUMAN	T	168	ENSP00000338967:A168T;ENSP00000370094:A168T;ENSP00000370108:A168T	ENSP00000338967:A168T	A	-	1	0	ARHGAP6	11592368	0.887000	0.30362	0.261000	0.24466	0.904000	0.53231	-0.182000	0.09726	-2.078000	0.00872	-1.079000	0.02226	GCT		0.647	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		17	19	0	0	0	1	0	17	19				
CENPE	1062	broad.mit.edu	37	4	104041313	104041313	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:104041313C>T	ENST00000265148.3	-	44	7410	c.7321G>A	c.(7321-7323)Gta>Ata	p.V2441I	CENPE_ENST00000380026.3_Missense_Mutation_p.V2320I	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2441	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACCTGAAGTACTTGAATTGTC	0.313																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(7321-7323)Gta>Ata		centromere protein E, 312kDa							124.0	109.0	114.0					4																	104041313		2201	4299	6500	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104041313C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7321G>A	4.37:g.104041313C>T	ENSP00000265148:p.Val2441Ile					CENPE_ENST00000380026.3_Missense_Mutation_p.V2320I	p.V2441I	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	44	7410	-			2441			Kinetochore-binding domain.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.7321G>A	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	C	0.056	-1.235136	0.01505	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.66099	-0.19;-0.19	4.2	-0.801	0.10893	.	.	.	.	.	T	0.36468	0.0968	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.22068	-1.0227	9	0.07325	T	0.83	.	3.4123	0.07363	0.1791:0.4042:0.0:0.4168	.	2320;2441	Q02224-3;Q02224	.;CENPE_HUMAN	I	2441;2320	ENSP00000265148:V2441I;ENSP00000369365:V2320I	ENSP00000265148:V2441I	V	-	1	0	CENPE	104260762	0.002000	0.14202	0.010000	0.14722	0.489000	0.33432	0.007000	0.13174	-0.116000	0.11893	0.655000	0.94253	GTA		0.313	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	11	0	0	0	1	0	6	11				
KRTAP10-11	386678	broad.mit.edu	37	21	46066709	46066709	+	Missense_Mutation	SNP	C	C	A	rs375504051		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:46066709C>A	ENST00000334670.8	+	1	379	c.334C>A	c.(334-336)Cct>Act	p.P112T	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	112	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						ctgctgcaagcctgtgtgctg	0.647																																						ENST00000334670.8																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						c.(334-336)Cct>Act		keratin associated protein 10-11		C	THR/PRO,	0,4406		0,0,2203	125.0	128.0	127.0		334,	2.4	0.0	21		127	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	TSPEAR,KRTAP10-11	NM_198692.2,NM_144991.2	38,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging,	112/299,	46066709	1,13005	2203	4300	6503	SO:0001583	missense	386678					keratin filament		g.chr21:46066709C>A	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"""Keratin associated proteins"""	20528	protein-coding gene	gene with protein product			"""keratin associated protein 10-11"""	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.334C>A	21.37:g.46066709C>A	ENSP00000334197:p.Pro112Thr					TSPEAR_ENST00000323084.4_Intron	p.P112T	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN			1	379	+			107			25 X 5 AA repeats of C-C-X(3).		A2RRF9	Missense_Mutation	SNP	ENST00000334670.8	37	c.334C>A	CCDS42962.1	.	.	.	.	.	.	.	.	.	.	c	5.699	0.313441	0.10789	0.0	1.16E-4	ENSG00000243489	ENST00000334670	T	0.01313	5.02	2.39	2.39	0.29439	.	.	.	.	.	T	0.08935	0.0221	M	0.86864	2.845	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.03278	-1.1053	9	0.87932	D	0	.	10.5201	0.44914	0.0:1.0:0.0:0.0	.	112	P60412	KR10B_HUMAN	T	112	ENSP00000334197:P112T	ENSP00000334197:P112T	P	+	1	0	KRTAP10-11	44891137	0.551000	0.26497	0.011000	0.14972	0.025000	0.11179	2.466000	0.45084	1.064000	0.40671	0.456000	0.33151	CCT		0.647	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692		20	252	1	0	3.86903e-22	1	4.0874e-22	20	252				
SLCO1B7	338821	broad.mit.edu	37	12	21207556	21207556	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:21207556C>T	ENST00000421593.2	+	10	1527	c.1527C>T	c.(1525-1527)tcC>tcT	p.S509S	SLCO1B3_ENST00000553473.1_Intron|RP11-125O5.2_ENST00000590779.1_Missense_Mutation_p.P10L|SLCO1B7_ENST00000554957.1_Silent_p.S556S|LST3_ENST00000381541.3_Silent_p.S556S|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	509						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CCTCATATTCCGTGCTGGTGA	0.328																																						ENST00000590779.1																			0											c.(28-30)cCg>cTg									77.0	83.0	81.0					12																	21207556		2154	4278	6432	SO:0001819	synonymous_variant	0							g.chr12:21207556C>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1527C>T	12.37:g.21207556C>T						LST3_ENST00000381541.3_Silent_p.S556S|SLCO1B7_ENST00000421593.2_Silent_p.S509S|SLCO1B7_ENST00000554957.1_Silent_p.S556S|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron	p.P10L							1	29	+								Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.29C>T	CCDS44843.1																																																																																				0.328	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		16	28	0	0	0	1	0	16	28				
DIP2C	22982	broad.mit.edu	37	10	532416	532416	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:532416T>C	ENST00000280886.6	-	2	227	c.140A>G	c.(139-141)tAc>tGc	p.Y47C	DIP2C_ENST00000381496.3_5'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	47	DMAP-interaction.					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)		CTGCGGAAGGTAGGCTCCAAT	0.473																																						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.(139-141)tAc>tGc		DIP2 disco-interacting protein 2 homolog C (Drosophila)							273.0	214.0	234.0					10																	532416		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:532416T>C	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.140A>G	10.37:g.532416T>C	ENSP00000280886:p.Tyr47Cys					DIP2C_ENST00000381496.3_5'UTR	p.Y47C	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)	2	227	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	47					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.140A>G	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.479938	0.26598	.	.	ENSG00000151240	ENST00000280886;ENST00000423550	T;T	0.56776	0.44;0.44	5.89	5.89	0.94794	DMAP1-binding (1);	0.071602	0.56097	N	0.000024	T	0.57873	0.2083	M	0.69358	2.11	0.80722	D	1	B	0.27700	0.186	B	0.35688	0.208	T	0.59958	-0.7356	10	0.72032	D	0.01	-17.4754	14.9345	0.70944	0.0:0.0:0.0:1.0	.	47	Q9Y2E4	DIP2C_HUMAN	C	47	ENSP00000280886:Y47C;ENSP00000408786:Y47C	ENSP00000280886:Y47C	Y	-	2	0	DIP2C	522416	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	4.916000	0.63362	2.267000	0.75376	0.529000	0.55759	TAC		0.473	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		31	92	0	0	0	1	0	31	92				
NEFM	4741	broad.mit.edu	37	8	24771438	24771438	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:24771438G>A	ENST00000221166.5	+	1	914	c.132G>A	c.(130-132)tcG>tcA	p.S44S	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Silent_p.S44S|RP11-624C23.1_ENST00000519689.1_RNA|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000437366.2_Silent_p.S44S			P07197	NFM_HUMAN	neurofilament, medium polypeptide	44	Head.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCCGCGGCTCGCCCAGCACCG	0.692																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(130-132)tcG>tcA		neurofilament, medium polypeptide							22.0	24.0	23.0					8																	24771438		2162	4223	6385	SO:0001819	synonymous_variant	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24771438G>A	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.132G>A	8.37:g.24771438G>A						GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Silent_p.S44S|NEFM_ENST00000518131.1_Silent_p.S44S	p.S44S			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	914	+		Prostate(55;0.157)	44			Head.		B4DGN2|E9PBF7|Q4QRK6	Silent	SNP	ENST00000221166.5	37	c.132G>A	CCDS6046.1																																																																																				0.692	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		28	75	0	0	0	1	0	28	75				
RNF145	153830	broad.mit.edu	37	5	158603773	158603773	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:158603773A>G	ENST00000424310.2	-	5	847	c.488T>C	c.(487-489)gTt>gCt	p.V163A	RNF145_ENST00000521606.2_Missense_Mutation_p.V180A|RNF145_ENST00000519865.1_Missense_Mutation_p.V163A|RNF145_ENST00000520638.1_Missense_Mutation_p.V177A|RNF145_ENST00000518802.1_Missense_Mutation_p.V193A|RNF145_ENST00000274542.2_Missense_Mutation_p.V191A	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	163						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCAAAGGAACAAGGCAGAG	0.388																																						ENST00000424310.2																			0				endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(487-489)gTt>gCt		ring finger protein 145							54.0	52.0	53.0					5																	158603773		2202	4300	6502	SO:0001583	missense	153830					integral to membrane	zinc ion binding	g.chr5:158603773A>G	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.488T>C	5.37:g.158603773A>G	ENSP00000409064:p.Val163Ala					RNF145_ENST00000518802.1_Missense_Mutation_p.V193A|RNF145_ENST00000519865.1_Missense_Mutation_p.V163A|RNF145_ENST00000520638.1_Missense_Mutation_p.V177A|RNF145_ENST00000274542.2_Missense_Mutation_p.V191A|RNF145_ENST00000521606.2_Missense_Mutation_p.V180A	p.V163A	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	847	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	163					B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	c.488T>C	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.299488	0.60195	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.78595	-1.19;-1.17;-1.17;-1.18;-1.18;-1.19;-1.18	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.71779	0.3380	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B;B	0.18461	0.028;0.028;0.028;0.028;0.016;0.023	B;B;B;B;B;B	0.21917	0.023;0.023;0.023;0.023;0.037;0.013	T	0.69617	-0.5097	10	0.72032	D	0.01	-20.5213	15.8333	0.78778	1.0:0.0:0.0:0.0	.	179;180;177;193;163;191	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;.;RN145_HUMAN;.	A	191;163;163;179;180;193;163;177	ENSP00000274542:V191A;ENSP00000430397:V163A;ENSP00000409064:V163A;ENSP00000430753:V179A;ENSP00000445115:V180A;ENSP00000430955:V193A;ENSP00000429071:V177A	ENSP00000274542:V191A	V	-	2	0	RNF145	158536351	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.200000	0.70718	0.377000	0.23210	GTT		0.388	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		10	25	0	0	0	1	0	10	25				
RIPK2	8767	broad.mit.edu	37	8	90802310	90802310	+	Missense_Mutation	SNP	G	G	A	rs201741198		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:90802310G>A	ENST00000220751.4	+	11	1603	c.1289G>A	c.(1288-1290)cGt>cAt	p.R430H	RIPK2_ENST00000540020.1_Missense_Mutation_p.R293H	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	430					activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|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 peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TTTTCAGAACGTCTGCAGCCT	0.383																																						ENST00000220751.4																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10						c.(1288-1290)cGt>cAt		receptor-interacting serine-threonine kinase 2							55.0	60.0	58.0					8																	90802310		2203	4300	6503	SO:0001583	missense	8767				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	g.chr8:90802310G>A	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.1289G>A	8.37:g.90802310G>A	ENSP00000220751:p.Arg430His					RIPK2_ENST00000540020.1_Missense_Mutation_p.R293H	p.R430H	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0474)		11	1603	+			430					B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	c.1289G>A	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.333361	0.24167	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.81078	-1.22;-1.45	5.83	-0.587	0.11690	.	0.369998	0.19814	N	0.105462	T	0.58595	0.2133	N	0.24115	0.695	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.33574	-0.9863	10	0.22706	T	0.39	8.0E-4	1.8303	0.03129	0.3951:0.1796:0.3131:0.1122	.	430	O43353	RIPK2_HUMAN	H	430;293	ENSP00000220751:R430H;ENSP00000441623:R293H	ENSP00000220751:R430H	R	+	2	0	RIPK2	90871451	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.501000	0.22578	-0.110000	0.12022	-0.218000	0.12543	CGT		0.383	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			30	50	0	0	0	1	0	30	50				
NR2F6	2063	broad.mit.edu	37	19	17343360	17343360	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17343360A>G	ENST00000291442.3	-	4	1735	c.1016T>C	c.(1015-1017)gTg>gCg	p.V339A		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	339	Important for dimerization. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|entrainment of circadian clock by photoperiod (GO:0043153)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						CTGCGCCCGCACATACTCGGT	0.697																																						ENST00000291442.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						c.(1015-1017)gTg>gCg		nuclear receptor subfamily 2, group F, member 6							22.0	23.0	23.0					19																	17343360		2202	4298	6500	SO:0001583	missense	2063				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr19:17343360A>G	X12794	CCDS12352.1	19p13.11	2013-09-20			ENSG00000160113	ENSG00000160113		"""Nuclear hormone receptors"""	7977	protein-coding gene	gene with protein product		132880		ERBAL2		2905047	Standard	NM_005234		Approved	EAR-2	uc002nfq.3	P10588	OTTHUMG00000182728	ENST00000291442.3:c.1016T>C	19.37:g.17343360A>G	ENSP00000291442:p.Val339Ala						p.V339A	NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN			4	1735	-			339			Important for dimerization (By similarity).|Ligand-binding (By similarity).		B2RC68|Q5XGA0|Q6P586|Q9BUE8	Missense_Mutation	SNP	ENST00000291442.3	37	c.1016T>C	CCDS12352.1	.	.	.	.	.	.	.	.	.	.	A	19.14	3.769003	0.69992	.	.	ENSG00000160113	ENST00000291442;ENST00000536940	D	0.96992	-4.2	4.71	4.71	0.59529	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.064020	0.64402	D	0.000011	D	0.95201	0.8444	M	0.69523	2.12	0.41349	D	0.987354	B	0.33000	0.393	B	0.35182	0.197	D	0.95016	0.8156	10	0.66056	D	0.02	.	12.1576	0.54085	1.0:0.0:0.0:0.0	.	339	P10588	NR2F6_HUMAN	A	339;312	ENSP00000291442:V339A	ENSP00000291442:V339A	V	-	2	0	NR2F6	17204360	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	3.527000	0.53517	1.761000	0.52028	0.454000	0.30748	GTG		0.697	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463325.1			12	34	0	0	0	1	0	12	34				
PREPL	9581	broad.mit.edu	37	2	44586917	44586917	+	De_novo_Start_OutOfFrame	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:44586917T>C	ENST00000409936.1	-	0	375				PREPL_ENST00000541738.1_Intron|CAMKMT_ENST00000403853.3_5'Flank|CAMKMT_ENST00000407131.1_5'Flank|PREPL_ENST00000410081.1_Intron|PREPL_ENST00000409272.1_Intron|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000260648.6_De_novo_Start_OutOfFrame|PREPL_ENST00000378511.3_5'Flank|PREPL_ENST00000409957.1_Intron|PREPL_ENST00000540817.1_Intron|CAMKMT_ENST00000378494.3_5'Flank|PREPL_ENST00000378520.3_5'Flank|CAMKMT_ENST00000402247.1_5'Flank	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like							cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATTTTATAGGTATGATTACAG	0.428																																						ENST00000409936.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33								prolyl endopeptidase-like																																						9581				proteolysis	cytosol	serine-type endopeptidase activity	g.chr2:44586917T>C	AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.-63A>G	2.37:g.44586917T>C						PREPL_ENST00000410081.1_Intron|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000409957.1_Intron|PREPL_ENST00000409272.1_Intron|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000260648.6_De_novo_Start_OutOfFrame|PREPL_ENST00000541738.1_Intron		NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN			0	375	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Translation_Start_Site	SNP	ENST00000409936.1	37		CCDS33190.1																																																																																				0.428	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		5	25	0	0	0	1	0	5	25				
NAPSA	9476	broad.mit.edu	37	19	50864944	50864944	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:50864944T>C	ENST00000253719.2	-	4	652	c.444A>G	c.(442-444)ggA>ggG	p.G148G	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	148					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CGCTCAGGATTCCATCTACCC	0.512																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(442-444)ggA>ggG		napsin A aspartic peptidase							123.0	107.0	112.0					19																	50864944		2203	4300	6503	SO:0001819	synonymous_variant	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50864944T>C	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.444A>G	19.37:g.50864944T>C						NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.G148G	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	4	652	-		all_neural(266;0.057)	148					Q8WWD9	Silent	SNP	ENST00000253719.2	37	c.444A>G	CCDS12794.1																																																																																				0.512	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		10	179	0	0	0	1	0	10	179				
DPY19L2	283417	broad.mit.edu	37	12	64061862	64061862	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:64061862G>C	ENST00000324472.4	-	1	495	c.312C>G	c.(310-312)ttC>ttG	p.F104L	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	104					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TTCTGCTGGAGAACCGCCGCG	0.592																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(310-312)ttC>ttG		dpy-19-like 2 (C. elegans)							48.0	52.0	51.0					12																	64061862		2202	4299	6501	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64061862G>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.312C>G	12.37:g.64061862G>C	ENSP00000315988:p.Phe104Leu					RP11-415I12.3_ENST00000509615.2_RNA	p.F104L	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	1	495	-			104					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.312C>G	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	9.602	1.129053	0.21041	.	.	ENSG00000177990	ENST00000324472	T	0.40756	1.02	1.75	1.75	0.24633	.	5.564530	0.00875	U	0.002067	T	0.33585	0.0868	L	0.32530	0.975	0.21499	N	0.999667	B	0.17667	0.023	B	0.11329	0.006	T	0.15009	-1.0452	9	.	.	.	.	6.9703	0.24644	0.0:0.0:1.0:0.0	.	104	Q6NUT2	D19L2_HUMAN	L	104	ENSP00000315988:F104L	.	F	-	3	2	DPY19L2	62348129	0.004000	0.15560	0.004000	0.12327	0.087000	0.18053	0.782000	0.26788	1.269000	0.44280	0.195000	0.17529	TTC		0.592	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		54	115	0	0	0	1	0	54	115				
IRX5	10265	broad.mit.edu	37	16	54967744	54967744	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:54967744G>A	ENST00000394636.4	+	3	1748	c.1411G>A	c.(1411-1413)Gac>Aac	p.D471N	IRX5_ENST00000560154.1_Missense_Mutation_p.D251N|IRX5_ENST00000558597.1_Missense_Mutation_p.D405N|IRX5_ENST00000320990.5_Missense_Mutation_p.D470N|CTD-3032H12.2_ENST00000560487.1_lincRNA			P78411	IRX5_HUMAN	iroquois homeobox 5	471					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						CCTGTGCAAAGACTCTCCCTA	0.468																																						ENST00000394636.4																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(1411-1413)Gac>Aac		iroquois homeobox 5							57.0	62.0	60.0					16																	54967744		2198	4300	6498	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.chr16:54967744G>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.1411G>A	16.37:g.54967744G>A	ENSP00000378132:p.Asp471Asn					IRX5_ENST00000560154.1_Missense_Mutation_p.D251N|IRX5_ENST00000320990.5_Missense_Mutation_p.D470N|IRX5_ENST00000558597.1_Missense_Mutation_p.D405N	p.D471N			P78411	IRX5_HUMAN			3	1748	+			471					H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	ENST00000394636.4	37	c.1411G>A	CCDS10751.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658940	0.67586	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	T;T	0.61742	0.08;0.09	4.92	4.92	0.64577	.	0.098202	0.64402	D	0.000002	T	0.67822	0.2934	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.65569	-0.6136	10	0.35671	T	0.21	-23.4443	18.295	0.90143	0.0:0.0:1.0:0.0	.	471	P78411	IRX5_HUMAN	N	471;470	ENSP00000378132:D471N;ENSP00000316250:D470N	ENSP00000316250:D470N	D	+	1	0	IRX5	53525245	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.111000	0.77077	2.536000	0.85505	0.650000	0.86243	GAC		0.468	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			31	119	0	0	0	1	0	31	119				
CNOT2	4848	broad.mit.edu	37	12	70723272	70723272	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:70723272G>A	ENST00000418359.3	+	6	759	c.308G>A	c.(307-309)gGc>gAc	p.G103D	CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000229195.3_Missense_Mutation_p.G103D	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	103					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 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)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)	p.G103D(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TTATCACAAGGCACTCAGTTA	0.458																																						ENST00000229195.3																			1	Substitution - Missense(1)	p.G103D(1)	lung(1)	cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(307-309)gGc>gAc		CCR4-NOT transcription complex, subunit 2							138.0	119.0	125.0					12																	70723272		2203	4300	6503	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70723272G>A	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.308G>A	12.37:g.70723272G>A	ENSP00000412091:p.Gly103Asp					CNOT2_ENST00000418359.3_Missense_Mutation_p.G103D|CNOT2_ENST00000548230.1_3'UTR	p.G103D	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		5	887	+	Renal(347;0.236)		103					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.308G>A	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440173	0.63067	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000552915;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000551873;ENST00000550194	T;T;T;T	0.48522	0.81;0.81;0.83;0.81	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	N	0.19112	0.55	0.80722	D	1	P	0.38195	0.622	B	0.30029	0.11	T	0.15378	-1.0439	10	0.39692	T	0.17	-4.7085	17.5881	0.87988	0.0:0.0:1.0:0.0	.	103	Q9NZN8	CNOT2_HUMAN	D	103;103;103;103;83;94;103;103;18;103	ENSP00000229195:G103D;ENSP00000412091:G103D;ENSP00000449659:G94D;ENSP00000449260:G103D	ENSP00000229195:G103D	G	+	2	0	CNOT2	69009539	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.586000	0.87340	0.460000	0.39030	GGC		0.458	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			17	78	0	0	0	1	0	17	78				
GTSE1	51512	broad.mit.edu	37	22	46704755	46704755	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:46704755C>T	ENST00000454366.1	+	4	889	c.677C>T	c.(676-678)gCg>gTg	p.A226V		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	207					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGTCAGGCAGCGACTCAGAGG	0.632																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(676-678)gCg>gTg		G-2 and S-phase expressed 1							53.0	62.0	59.0					22																	46704755		2201	4297	6498	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46704755C>T	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.677C>T	22.37:g.46704755C>T	ENSP00000415430:p.Ala226Val						p.A226V	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	4	889	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	207					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.677C>T	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799473	0.31869	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.06687	3.27	5.03	-10.1	0.00402	.	1.055610	0.07239	N	0.863845	T	0.04952	0.0133	N	0.14661	0.345	0.09310	N	1	B	0.16396	0.017	B	0.06405	0.002	T	0.40440	-0.9563	10	0.46703	T	0.11	0.1207	16.0081	0.80377	0.0:0.0882:0.7725:0.1393	.	207	Q9NYZ3	GTSE1_HUMAN	V	226;186	ENSP00000415430:A226V	ENSP00000354634:A186V	A	+	2	0	GTSE1	45083419	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.922000	0.04004	-1.843000	0.01179	-0.345000	0.07892	GCG		0.632	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		50	165	0	0	0	1	0	50	165				
EGLN2	112398	broad.mit.edu	37	19	41312467	41312467	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41312467T>C	ENST00000593726.1	+	2	1879	c.851T>C	c.(850-852)gTg>gCg	p.V284A	EGLN2_ENST00000594140.1_Missense_Mutation_p.V2A|EGLN2_ENST00000303961.4_Missense_Mutation_p.V284A|CTC-490E21.12_ENST00000601627.1_Intron|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Missense_Mutation_p.V284A			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	284	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	CAGGCCATGGTGGCGTGTTAC	0.557											OREG0025478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000593726.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(850-852)gTg>gCg		egl-9 family hypoxia-inducible factor 2	Vitamin C(DB00126)						106.0	82.0	90.0					19																	41312467		2203	4300	6503	SO:0001583	missense	112398				cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity	g.chr19:41312467T>C	AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 1"""	606424	"""EGL nine (C.elegans) homolog 2"", ""egl nine homolog 2 (C. elegans)"""				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.851T>C	19.37:g.41312467T>C	ENSP00000469686:p.Val284Ala		OREG0025478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	900	EGLN2_ENST00000594140.1_Missense_Mutation_p.V2A|CTC-490E21.12_ENST00000601627.1_Intron|EGLN2_ENST00000406058.2_Missense_Mutation_p.V284A|EGLN2_ENST00000303961.4_Missense_Mutation_p.V284A|RAB4B-EGLN2_ENST00000594136.1_3'UTR	p.V284A			Q96KS0	EGLN2_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		2	1879	+			284			Fe2OG dioxygenase.		A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	ENST00000593726.1	37	c.851T>C	CCDS12567.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.911603	0.92178	.	.	ENSG00000171570	ENST00000303961;ENST00000406058	T;T	0.60920	0.15;0.15	5.0	5.0	0.66597	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.80847	2.515	0.80722	D	1	D	0.55385	0.971	D	0.70227	0.968	T	0.79878	-0.1617	10	0.87932	D	0	-16.2853	13.8298	0.63373	0.0:0.0:0.0:1.0	.	284	Q96KS0	EGLN2_HUMAN	A	284	ENSP00000307080:V284A;ENSP00000385253:V284A	ENSP00000307080:V284A	V	+	2	0	EGLN2	46004307	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.508000	0.81686	2.091000	0.63221	0.533000	0.62120	GTG		0.557	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			7	132	0	0	0	1	0	7	132				
PRKAB1	5564	broad.mit.edu	37	12	120112203	120112203	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:120112203A>G	ENST00000229328.5	+	4	968	c.476A>G	c.(475-477)gAc>gGc	p.D159G	PRKAB1_ENST00000541640.1_Missense_Mutation_p.D159G|PRKAB1_ENST00000540121.1_5'UTR	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	159	Glycogen-binding domain. {ECO:0000250}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase activity (GO:0004672)			endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	AAGAAAACTGACTTTGAAGTA	0.443																																						ENST00000229328.5																			0				endometrium(2)|large_intestine(3)|lung(5)	10						c.(475-477)gAc>gGc		protein kinase, AMP-activated, beta 1 non-catalytic subunit	Adenosine monophosphate(DB00131)|Metformin(DB00331)						156.0	138.0	144.0					12																	120112203		2203	4300	6503	SO:0001583	missense	5564				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		g.chr12:120112203A>G	BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725			9378	protein-coding gene	gene with protein product	"""AMPK beta 1"""	602740				8557660	Standard	NM_006253		Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000229328.5:c.476A>G	12.37:g.120112203A>G	ENSP00000229328:p.Asp159Gly					PRKAB1_ENST00000541640.1_Missense_Mutation_p.D159G|PRKAB1_ENST00000540121.1_5'UTR	p.D159G	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.166)	4	968	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		159					Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	Missense_Mutation	SNP	ENST00000229328.5	37	c.476A>G	CCDS9191.1	.	.	.	.	.	.	.	.	.	.	A	31	5.073492	0.94000	.	.	ENSG00000111725	ENST00000229328;ENST00000541640;ENST00000539596	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.83700	0.5311	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82896	-0.0230	9	0.28530	T	0.3	-21.4095	16.8222	0.85835	1.0:0.0:0.0:0.0	.	159	Q9Y478	AAKB1_HUMAN	G	159;159;122	.	ENSP00000229328:D159G	D	+	2	0	PRKAB1	118596586	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	GAC		0.443	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401731.2	NM_006253		21	96	0	0	0	1	0	21	96				
B3GNT3	10331	broad.mit.edu	37	19	17922448	17922448	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17922448C>T	ENST00000318683.6	+	3	783	c.636C>T	c.(634-636)gaC>gaT	p.D212D	B3GNT3_ENST00000595387.1_Silent_p.D212D	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	212					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GGGATGATGACGTCTTTGCAC	0.587																																						ENST00000318683.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(634-636)gaC>gaT		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3							108.0	79.0	89.0					19																	17922448		2203	4300	6503	SO:0001819	synonymous_variant	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17922448C>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.636C>T	19.37:g.17922448C>T						B3GNT3_ENST00000595387.1_Silent_p.D212D	p.D212D	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN			3	783	+			212					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Silent	SNP	ENST00000318683.6	37	c.636C>T	CCDS12364.1																																																																																				0.587	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		19	56	0	0	0	1	0	19	56				
NCOR2	9612	broad.mit.edu	37	12	124820112	124820112	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124820112A>G	ENST00000405201.1	-	39	6182	c.6182T>C	c.(6181-6183)cTg>cCg	p.L2061P	NCOR2_ENST00000356219.3_Missense_Mutation_p.L2068P|NCOR2_ENST00000429285.2_Missense_Mutation_p.L2051P|NCOR2_ENST00000404621.1_Missense_Mutation_p.L2051P|NCOR2_ENST00000397355.1_Missense_Mutation_p.L2052P|NCOR2_ENST00000404121.2_Missense_Mutation_p.L1622P			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2072					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTCGTGGGTCAGACTGGGTGA	0.677																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(6202-6204)cTg>cCg		nuclear receptor corepressor 2							29.0	38.0	35.0					12																	124820112		1919	4123	6042	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124820112A>G	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.6182T>C	12.37:g.124820112A>G	ENSP00000384018:p.Leu2061Pro					NCOR2_ENST00000429285.2_Missense_Mutation_p.L2051P|NCOR2_ENST00000405201.1_Missense_Mutation_p.L2061P|NCOR2_ENST00000404121.2_Missense_Mutation_p.L1622P|NCOR2_ENST00000404621.1_Missense_Mutation_p.L2051P|NCOR2_ENST00000397355.1_Missense_Mutation_p.L2052P	p.L2068P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	40	6358	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2072					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.6203T>C	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	A	8.447	0.852099	0.17034	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285	T;T;T;T;T;T	0.18657	2.2;2.47;2.21;2.47;2.2;2.47	3.56	3.56	0.40772	.	0.245692	0.34338	N	0.004055	T	0.33059	0.0850	L	0.35723	1.085	0.58432	D	0.99999	D;D;D	0.76494	0.998;0.999;0.998	P;D;D	0.69654	0.896;0.965;0.923	T	0.05435	-1.0885	10	0.49607	T	0.09	-21.7328	12.8214	0.57696	1.0:0.0:0.0:0.0	.	2052;2061;2072	C9J239;C9JFD3;Q9Y618	.;.;NCOR2_HUMAN	P	2061;2051;2068;2052;2060;1622;153;2051	ENSP00000384018:L2061P;ENSP00000384202:L2051P;ENSP00000348551:L2068P;ENSP00000380513:L2052P;ENSP00000385618:L1622P;ENSP00000400281:L2051P	ENSP00000348551:L2068P	L	-	2	0	NCOR2	123386065	0.999000	0.42202	0.990000	0.47175	0.095000	0.18619	3.561000	0.53770	1.568000	0.49683	0.413000	0.27773	CTG		0.677	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		15	51	0	0	0	1	0	15	51				
GARNL3	84253	broad.mit.edu	37	9	130151298	130151298	+	Silent	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:130151298C>A	ENST00000373387.4	+	26	2995	c.2643C>A	c.(2641-2643)ccC>ccA	p.P881P	GARNL3_ENST00000435213.2_Silent_p.P859P|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	881					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CACCCACTCCCATCAGTGTGG	0.527																																						ENST00000373387.4																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						c.(2641-2643)ccC>ccA		GTPase activating Rap/RanGAP domain-like 3							103.0	82.0	89.0					9																	130151298		2203	4300	6503	SO:0001819	synonymous_variant	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130151298C>A	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.2643C>A	9.37:g.130151298C>A						GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000435213.2_Silent_p.P859P	p.P881P	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN			26	2995	+			881					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Silent	SNP	ENST00000373387.4	37	c.2643C>A	CCDS6869.2																																																																																				0.527	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		30	76	1	0	2.65835e-16	1	2.79074e-16	30	76				
SCYL2	55681	broad.mit.edu	37	12	100709378	100709378	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:100709378T>C	ENST00000360820.2	+	9	1575	c.1138T>C	c.(1138-1140)Ttt>Ctt	p.F380L		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	380					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GACTTCAGAATTTGTAAACCC	0.308																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(1138-1140)Ttt>Ctt		SCY1-like 2 (S. cerevisiae)							111.0	105.0	107.0					12																	100709378		2203	4300	6503	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100709378T>C	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1138T>C	12.37:g.100709378T>C	ENSP00000354061:p.Phe380Leu						p.F380L	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			9	1575	+			380					A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.1138T>C	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	T	18.95	3.732681	0.69189	.	.	ENSG00000136021	ENST00000549687;ENST00000258506;ENST00000360820	T;T	0.25085	1.82;1.82	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.14527	0.0351	N	0.11201	0.11	0.80722	D	1	B	0.24258	0.1	B	0.30251	0.113	T	0.05194	-1.0900	10	0.02654	T	1	.	15.9461	0.79796	0.0:0.0:0.0:1.0	.	380	Q6P3W7	SCYL2_HUMAN	L	380;207;380	ENSP00000448366:F380L;ENSP00000354061:F380L	ENSP00000258506:F207L	F	+	1	0	SCYL2	99233509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.229000	0.72834	0.482000	0.46254	TTT		0.308	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		28	120	0	0	0	1	0	28	120				
ZNF791	163049	broad.mit.edu	37	19	12738816	12738816	+	Missense_Mutation	SNP	A	A	G	rs200738829		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:12738816A>G	ENST00000343325.4	+	4	635	c.473A>G	c.(472-474)aAa>aGa	p.K158R	ZNF490_ENST00000465656.1_Intron|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000540038.1_Missense_Mutation_p.K49R|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000458122.3_Missense_Mutation_p.K126R	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ACTGGAGAAAAACCCTATAAA	0.373																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(472-474)aAa>aGa		zinc finger protein 791							62.0	62.0	62.0					19																	12738816		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12738816A>G	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.473A>G	19.37:g.12738816A>G	ENSP00000342974:p.Lys158Arg					ZNF791_ENST00000458122.3_Missense_Mutation_p.K126R|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.K49R|ZNF791_ENST00000446165.1_3'UTR	p.K158R	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			4	635	+			158					B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.473A>G	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	A	10.96	1.499449	0.26861	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.24908	1.83;1.83;1.83	1.83	1.83	0.25207	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19406	0.0466	L	0.37507	1.11	0.24433	N	0.994565	B	0.09022	0.002	B	0.12837	0.008	T	0.20273	-1.0280	9	0.54805	T	0.06	.	7.2856	0.26337	1.0:0.0:0.0:0.0	.	158	Q3KP31	ZN791_HUMAN	R	158;140;126;49	ENSP00000342974:K158R;ENSP00000441761:K126R;ENSP00000441038:K49R	ENSP00000342974:K158R	K	+	2	0	ZNF791	12599816	0.978000	0.34361	0.993000	0.49108	0.943000	0.58893	0.981000	0.29526	0.834000	0.34852	0.402000	0.26972	AAA		0.373	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		12	83	0	0	0	1	0	12	83				
TRPC5	7224	broad.mit.edu	37	X	111155911	111155911	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:111155911G>C	ENST00000262839.2	-	3	1426	c.508C>G	c.(508-510)Cgg>Ggg	p.R170G		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	170					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGTGGGGCCGTGGGATAGTG	0.527																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(508-510)Cgg>Ggg		transient receptor potential cation channel, subfamily C, member 5							111.0	97.0	101.0					X																	111155911		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111155911G>C	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.508C>G	X.37:g.111155911G>C	ENSP00000262839:p.Arg170Gly						p.R170G	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			3	1426	-			170					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.508C>G	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690600	0.68271	.	.	ENSG00000072315	ENST00000262839	T	0.70986	-0.53	5.43	2.44	0.29823	.	0.000000	0.85682	D	0.000000	T	0.74030	0.3663	L	0.43923	1.385	0.51767	D	0.999934	P;D	0.61080	0.884;0.989	P;P	0.57846	0.588;0.828	T	0.75028	-0.3462	10	0.62326	D	0.03	-14.7195	13.8139	0.63278	0.0:0.0:0.604:0.396	.	171;170	Q59G51;Q9UL62	.;TRPC5_HUMAN	G	170	ENSP00000262839:R170G	ENSP00000262839:R170G	R	-	1	2	TRPC5	111042567	0.998000	0.40836	0.998000	0.56505	0.998000	0.95712	2.743000	0.47442	0.423000	0.26033	0.529000	0.55759	CGG		0.527	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		3	69	0	0	0	1	0	3	69				
GIPC1	10755	broad.mit.edu	37	19	14589555	14589555	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:14589555G>T	ENST00000393033.4	-	8	1060	c.791C>A	c.(790-792)gCc>gAc	p.A264D	GIPC1_ENST00000591349.1_Missense_Mutation_p.A167D|GIPC1_ENST00000345425.2_Missense_Mutation_p.A264D|GIPC1_ENST00000393029.3_Missense_Mutation_p.A167D|GIPC1_ENST00000393028.1_Missense_Mutation_p.A167D|GIPC1_ENST00000586027.1_Missense_Mutation_p.A264D	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	264					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CTTCTCAATGGCCTTCTCTTC	0.557																																					Pancreas(33;78 923 2910 41023 52850)	ENST00000393033.4																			0				endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(790-792)gCc>gAc		GIPC PDZ domain containing family, member 1							150.0	147.0	148.0					19																	14589555		2203	4300	6503	SO:0001583	missense	10755				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	g.chr19:14589555G>T	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.791C>A	19.37:g.14589555G>T	ENSP00000376753:p.Ala264Asp					GIPC1_ENST00000586027.1_Missense_Mutation_p.A264D|GIPC1_ENST00000393028.1_Missense_Mutation_p.A167D|GIPC1_ENST00000345425.2_Missense_Mutation_p.A264D|GIPC1_ENST00000393029.3_Missense_Mutation_p.A167D|GIPC1_ENST00000591349.1_Missense_Mutation_p.A167D	p.A264D	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN			8	1060	-			264					A8K4I3|A8MZG3|Q9BTC9	Missense_Mutation	SNP	ENST00000393033.4	37	c.791C>A	CCDS12310.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495014	0.85069	.	.	ENSG00000123159	ENST00000393033;ENST00000345425;ENST00000393029;ENST00000393028;ENST00000351277	D;D;D;D	0.87256	-1.69;-1.69;-2.23;-2.23	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	D	0.93638	0.7968	M	0.88842	2.985	0.80722	D	1	D	0.63046	0.992	D	0.66351	0.943	D	0.94855	0.8017	10	0.87932	D	0	-16.3392	14.2382	0.65941	0.0:0.0:1.0:0.0	.	264	O14908	GIPC1_HUMAN	D	264;264;167;167;264	ENSP00000376753:A264D;ENSP00000340698:A264D;ENSP00000376749:A167D;ENSP00000376748:A167D	ENSP00000340698:A264D	A	-	2	0	GIPC1	14450555	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	9.249000	0.95470	1.951000	0.56629	0.561000	0.74099	GCC		0.557	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			91	227	1	0	6.07207e-39	1	6.43891e-39	91	227				
MRPL2	51069	broad.mit.edu	37	6	43022195	43022195	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:43022195G>A	ENST00000388752.3	-	7	1159	c.735C>T	c.(733-735)ggC>ggT	p.G245G	CUL7_ENST00000265348.3_5'Flank|CUL7_ENST00000535468.1_5'Flank|MRPL2_ENST00000489623.1_Missense_Mutation_p.P99S|MRPL2_ENST00000230413.5_Missense_Mutation_p.P221S	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	245					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		TGGATACTCGGCCTACTGTTG	0.547																																						ENST00000230413.5																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9						c.(661-663)Ccg>Tcg		mitochondrial ribosomal protein L2							77.0	60.0	66.0					6																	43022195		2203	4300	6503	SO:0001819	synonymous_variant	51069				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr6:43022195G>A	AB051617	CCDS34454.1, CCDS75458.1	6p21.3	2012-09-13			ENSG00000112651	ENSG00000112651		"""Mitochondrial ribosomal proteins / large subunits"""	14056	protein-coding gene	gene with protein product		611822					Standard	XM_005249161		Approved	MRP-L14, RPML14, CGI-22	uc003ots.1	Q5T653	OTTHUMG00000014719	ENST00000388752.3:c.735C>T	6.37:g.43022195G>A						MRPL2_ENST00000489623.1_Missense_Mutation_p.P99S|MRPL2_ENST00000388752.3_Silent_p.G245G	p.P221S			Q5T653	RM02_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)	6	673	-		Ovarian(999;0.0014)	0					B2RC56|Q8WUL1|Q96Q56|Q9Y311	Missense_Mutation	SNP	ENST00000388752.3	37	c.661C>T	CCDS34454.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501385	0.44455	.	.	ENSG00000112651	ENST00000230413;ENST00000489623	.	.	.	5.59	2.84	0.33178	.	.	.	.	.	T	0.40094	0.1103	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21759	-1.0236	5	0.30078	T	0.28	-16.6188	7.7784	0.29051	0.1432:0.1326:0.7242:0.0	.	.	.	.	S	221;99	.	ENSP00000230413:P221S	P	-	1	0	MRPL2	43130173	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.633000	0.24598	0.304000	0.22809	-0.244000	0.11960	CCG		0.547	MRPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040577.2			22	74	0	0	0	1	0	22	74				
VCPIP1	80124	broad.mit.edu	37	8	67578197	67578197	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:67578197T>C	ENST00000310421.4	-	1	1255	c.997A>G	c.(997-999)Act>Gct	p.T333A	C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	333	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCTTTCCCAGTGCACTTCTCT	0.463																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(997-999)Act>Gct		valosin containing protein (p97)/p47 complex interacting protein 1							74.0	77.0	76.0					8																	67578197		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578197T>C	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.997A>G	8.37:g.67578197T>C	ENSP00000309031:p.Thr333Ala						p.T333A	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1255	-		Lung NSC(129;0.142)|all_lung(136;0.227)	333			OTU.		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.997A>G	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	T	9.862	1.196527	0.22037	.	.	ENSG00000175073	ENST00000310421	T	0.29917	1.55	5.75	5.75	0.90469	Ovarian tumour, otubain (2);	0.108034	0.64402	D	0.000012	T	0.20333	0.0489	N	0.08118	0	0.30845	N	0.73526	B	0.22003	0.063	B	0.25614	0.062	T	0.14337	-1.0476	10	0.52906	T	0.07	-13.3027	16.0623	0.80847	0.0:0.0:0.0:1.0	.	333	Q96JH7	VCIP1_HUMAN	A	333	ENSP00000309031:T333A	ENSP00000309031:T333A	T	-	1	0	VCPIP1	67740751	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.299000	0.51826	2.195000	0.70347	0.533000	0.62120	ACT		0.463	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			34	144	0	0	0	1	0	34	144				
EPS8L1	54869	broad.mit.edu	37	19	55592177	55592177	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:55592177A>G	ENST00000201647.6	+	7	523	c.467A>G	c.(466-468)cAc>cGc	p.H156R	EPS8L1_ENST00000586329.1_Missense_Mutation_p.H138R|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_Missense_Mutation_p.H92R|EPS8L1_ENST00000245618.5_Missense_Mutation_p.H29R|EPS8L1_ENST00000588359.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	156					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGGGCTCTGCACAATTACCGC	0.687																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(466-468)cAc>cGc		EPS8-like 1							19.0	24.0	22.0					19																	55592177		2195	4297	6492	SO:0001583	missense	54869					cytoplasm		g.chr19:55592177A>G	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.467A>G	19.37:g.55592177A>G	ENSP00000201647:p.His156Arg					EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000245618.5_Missense_Mutation_p.H29R|EPS8L1_ENST00000586329.1_Missense_Mutation_p.H138R|EPS8L1_ENST00000540810.1_Missense_Mutation_p.H92R|EPS8L1_ENST00000592824.1_3'UTR	p.H156R	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	7	523	+			156					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.467A>G	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.165743	0.38217	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618	T;T;T	0.28666	1.6;1.6;3.49	3.91	3.91	0.45181	Tensin phosphotyrosine-binding domain (1);	0.452649	0.19208	U	0.120011	T	0.19927	0.0479	L	0.29908	0.895	0.45250	D	0.998255	B;B;B;B	0.32829	0.01;0.386;0.131;0.025	B;B;B;B	0.31101	0.018;0.124;0.017;0.029	T	0.04855	-1.0922	10	0.23891	T	0.37	-15.2886	9.4431	0.38681	1.0:0.0:0.0:0.0	.	92;138;29;156	B4DKV7;Q8TE68-3;Q8TE68-2;Q8TE68	.;.;.;ES8L1_HUMAN	R	138;156;92;29	ENSP00000201647:H156R;ENSP00000437541:H92R;ENSP00000245618:H29R	ENSP00000201647:H156R	H	+	2	0	EPS8L1	60283989	0.519000	0.26242	0.989000	0.46669	0.952000	0.60782	0.557000	0.23454	1.542000	0.49330	0.402000	0.26972	CAC		0.687	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		10	28	0	0	0	1	0	10	28				
PLXND1	23129	broad.mit.edu	37	3	129291683	129291683	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:129291683A>G	ENST00000324093.4	-	14	3116		c.e14+1		PLXND1_ENST00000393239.1_Splice_Site	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCCCCCCCTTACCACGTAGGA	0.687																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.e14+1		plexin D1							51.0	48.0	49.0					3																	129291683		2203	4300	6503	SO:0001630	splice_region_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129291683A>G	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2937+1T>C	3.37:g.129291683A>G						PLXND1_ENST00000324093.4_Splice_Site				Q9Y4D7	PLXD1_HUMAN			14	3116	-								A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Splice_Site	SNP	ENST00000324093.4	37		CCDS33854.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.660012	0.67586	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4772	0.61316	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLXND1	130774373	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	6.623000	0.74238	1.916000	0.55485	0.533000	0.62120	.		0.687	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	Intron	9	42	0	0	0	1	0	9	42				
ARX	170302	broad.mit.edu	37	X	25033816	25033816	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:25033816C>T	ENST00000379044.4	-	1	249	c.39G>A	c.(37-39)agG>agA	p.R13R		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	13					axon guidance (GO:0007411)|cell proliferation in forebrain (GO:0021846)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex tangential migration (GO:0021800)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|epithelial cell fate commitment (GO:0072148)|globus pallidus development (GO:0021759)|lipid digestion (GO:0044241)|positive regulation of organ growth (GO:0046622)|regulation of cell proliferation (GO:0042127)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			kidney(1)|large_intestine(2)|lung(1)	4						TGCACTCGGGCCTCTCGGAGC	0.627																																						ENST00000379044.4																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(37-39)agG>agA		aristaless related homeobox							44.0	37.0	39.0					X																	25033816		2202	4299	6501	SO:0001819	synonymous_variant	170302					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:25033816C>T	AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848		"""Homeoboxes / PRD class"""	18060	protein-coding gene	gene with protein product	"""cancer/testis antigen 121"""	300382	"""mental retardation, X-linked 54"", ""mental retardation, X-linked 43"", ""mental retardation, X-linked 36"", ""mental retardation, X-linked 29"", ""mental retardation, X-linked 32"", ""mental retardation, X-linked 33"", ""mental retardation, X-linked 38"", ""mental retardation, X-linked 87"", ""mental retardation, X-linked 76"""	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87		11889467, 15850492, 17480217	Standard	NM_139058		Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.39G>A	X.37:g.25033816C>T							p.R13R	NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN			1	249	-			13						Silent	SNP	ENST00000379044.4	37	c.39G>A	CCDS14215.1																																																																																				0.627	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056109.1			3	3	0	0	0	1	0	3	3				
HERC2P3	283755	broad.mit.edu	37	15	20645883	20645883	+	RNA	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:20645883C>T	ENST00000428453.1	-	0	2882							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GGTGTTGCTCCCTGTACACCA	0.537																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															42.0	32.0	36.0					15																	20645883		2172	4209	6381			283755							g.chr15:20645883C>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20645883C>T														0	2882	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.537	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		13	69	0	0	0	1	0	13	69				
HDAC9	9734	broad.mit.edu	37	7	18767277	18767277	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:18767277A>G	ENST00000432645.2	+	12	1797	c.1797A>G	c.(1795-1797)ggA>ggG	p.G599G	HDAC9_ENST00000401921.1_Silent_p.G558G|HDAC9_ENST00000406451.4_Silent_p.G599G|HDAC9_ENST00000441542.2_Silent_p.G602G	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	599					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCATGGATGGATTAGAGAAAC	0.587																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(1795-1797)ggA>ggG		histone deacetylase 9	Valproic Acid(DB00313)						48.0	54.0	52.0					7																	18767277		2029	4194	6223	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18767277A>G	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1797A>G	7.37:g.18767277A>G						HDAC9_ENST00000441542.2_Silent_p.G602G|HDAC9_ENST00000432645.2_Silent_p.G599G|HDAC9_ENST00000401921.1_Silent_p.G558G	p.G599G	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			13	1947	+	all_lung(11;0.187)		599					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	c.1797A>G	CCDS47555.1																																																																																				0.587	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			6	32	0	0	0	1	0	6	32				
TLE1	7088	broad.mit.edu	37	9	84205764	84205764	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:84205764G>A	ENST00000376499.3	-	16	2849	c.1785C>T	c.(1783-1785)gaC>gaT	p.D595D		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	595					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CGATGTTGCCGTCGCTGCAGC	0.607																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1783-1785)gaC>gaT		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							94.0	88.0	90.0					9																	84205764		2203	4300	6503	SO:0001819	synonymous_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84205764G>A		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1785C>T	9.37:g.84205764G>A							p.D595D	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			16	2849	-			595					A8K495|Q5T3G4|Q969V9	Silent	SNP	ENST00000376499.3	37	c.1785C>T	CCDS6661.1																																																																																				0.607	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		33	97	0	0	0	1	0	33	97				
HOXC9	3225	broad.mit.edu	37	12	54394074	54394074	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:54394074T>C	ENST00000303450.4	+	1	172	c.102T>C	c.(100-102)caT>caC	p.H34H	RP11-834C11.12_ENST00000513209.1_Intron|HOXC-AS1_ENST00000505700.1_RNA|HOXC9_ENST00000508190.1_Silent_p.H34H|HOXC-AS1_ENST00000512427.1_RNA|HOXC9_ENST00000504557.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	34					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CCGGGGCTCATCCCGCCGCCG	0.632																																						ENST00000303450.4																			0				large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(100-102)caT>caC		homeobox C9							41.0	43.0	42.0					12																	54394074		2203	4300	6503	SO:0001819	synonymous_variant	3225				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54394074T>C		CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"""Homeoboxes / ANTP class : HOXL subclass"""	5130	protein-coding gene	gene with protein product		142971	"""homeo box C9"""	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.102T>C	12.37:g.54394074T>C						HOXC9_ENST00000504557.1_Intron|HOXC9_ENST00000508190.1_Silent_p.H34H	p.H34H	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN			1	172	+			34					B2RCN7|Q9H1I0	Silent	SNP	ENST00000303450.4	37	c.102T>C	CCDS8869.1																																																																																				0.632	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1			19	109	0	0	0	1	0	19	109				
CREB3L3	84699	broad.mit.edu	37	19	4171733	4171733	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:4171733C>T	ENST00000078445.2	+	10	1300	c.1153C>T	c.(1153-1155)Cga>Tga	p.R385*	CREB3L3_ENST00000252587.3_Silent_p.P273P|CREB3L3_ENST00000602257.1_Nonsense_Mutation_p.R383*|CREB3L3_ENST00000595923.1_Nonsense_Mutation_p.R384*|CREB3L3_ENST00000602147.1_3'UTR	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	385					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGGACCCCGACCCGAGGC	0.642																																						ENST00000078445.2																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(1153-1155)Cga>Tga		cAMP responsive element binding protein 3-like 3							52.0	63.0	59.0					19																	4171733		2203	4293	6496	SO:0001587	stop_gained	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4171733C>T		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.1153C>T	19.37:g.4171733C>T	ENSP00000078445:p.Arg385*					CREB3L3_ENST00000602257.1_Nonsense_Mutation_p.R383*|CREB3L3_ENST00000252587.3_Silent_p.P273P|CREB3L3_ENST00000595923.1_Nonsense_Mutation_p.R384*|CREB3L3_ENST00000602147.1_3'UTR	p.R385*	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1300	+			385					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Nonsense_Mutation	SNP	ENST00000078445.2	37	c.1153C>T	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056172	0.76074	.	.	ENSG00000060566	ENST00000078445;ENST00000381943	.	.	.	3.74	1.53	0.23141	.	4.393040	0.00738	N	0.000989	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-10.9861	4.9803	0.14162	0.0:0.6399:0.235:0.1252	.	.	.	.	X	385;343	.	ENSP00000078445:R385X	R	+	1	2	CREB3L3	4122733	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.242000	0.08928	0.351000	0.24027	0.561000	0.74099	CGA		0.642	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		49	157	0	0	0	1	0	49	157				
ZNF527	84503	broad.mit.edu	37	19	37871240	37871240	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:37871240G>T	ENST00000436120.2	+	4	329	c.222G>T	c.(220-222)atG>atT	p.M74I	ZNF527_ENST00000483919.1_Missense_Mutation_p.M74I|ZNF527_ENST00000587349.1_Missense_Mutation_p.M74I	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACCGTGGATGGTGGAGAGAA	0.478																																						ENST00000436120.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33						c.(220-222)atG>atT		zinc finger protein 527							108.0	113.0	111.0					19																	37871240		2030	4191	6221	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37871240G>T	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.222G>T	19.37:g.37871240G>T	ENSP00000390179:p.Met74Ile					ZNF527_ENST00000587349.1_Missense_Mutation_p.M74I|ZNF527_ENST00000483919.1_Missense_Mutation_p.M74I	p.M74I	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	329	+			74			KRAB.		B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.222G>T	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	G	6.805	0.517567	0.13005	.	.	ENSG00000189164	ENST00000356178;ENST00000436120	.	.	.	4.45	-4.56	0.03431	Krueppel-associated box (2);	.	.	.	.	T	0.13884	0.0336	N	0.12569	0.235	0.09310	N	1	B;B	0.14805	0.0;0.011	B;B	0.12156	0.0;0.007	T	0.27297	-1.0078	8	0.19590	T	0.45	.	1.8703	0.03207	0.3512:0.3489:0.1776:0.1223	.	74;74	Q8NB42;Q0P6G1	ZN527_HUMAN;.	I	74;22	.	ENSP00000348501:M74I	M	+	3	0	ZNF527	42563080	0.000000	0.05858	0.000000	0.03702	0.884000	0.51177	-0.524000	0.06222	-0.334000	0.08463	0.558000	0.71614	ATG		0.478	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		10	45	1	0	3.86212e-05	1	3.93362e-05	10	45				
PRAMEF2	65122	broad.mit.edu	37	1	12921350	12921350	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:12921350A>G	ENST00000240189.2	+	4	1228	c.1141A>G	c.(1141-1143)Acc>Gcc	p.T381A		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	381					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCTCACCACCTTCTACTT	0.577																																						ENST00000240189.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(1141-1143)Acc>Gcc		PRAME family member 2							112.0	117.0	115.0					1																	12921350		2202	4296	6498	SO:0001583	missense	65122							g.chr1:12921350A>G		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1141A>G	1.37:g.12921350A>G	ENSP00000240189:p.Thr381Ala						p.T381A	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1228	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	381						Missense_Mutation	SNP	ENST00000240189.2	37	c.1141A>G	CCDS149.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.506573	0.26949	.	.	ENSG00000120952	ENST00000240189	T	0.09538	2.97	0.824	0.824	0.18818	.	0.587057	0.17444	N	0.174028	T	0.15869	0.0382	M	0.62266	1.93	0.09310	N	1	P	0.49358	0.923	P	0.54026	0.74	T	0.09122	-1.0689	10	0.27785	T	0.31	.	3.9396	0.09321	1.0:0.0:0.0:0.0	.	381	O60811	PRAM2_HUMAN	A	381	ENSP00000240189:T381A	ENSP00000240189:T381A	T	+	1	0	PRAMEF2	12843937	0.000000	0.05858	0.180000	0.23079	0.064000	0.16182	-0.486000	0.06513	0.624000	0.30286	0.145000	0.16022	ACC		0.577	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		18	279	0	0	0	1	0	18	279				
SOD3	6649	broad.mit.edu	37	4	24801537	24801537	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:24801537T>C	ENST00000382120.3	+	2	599	c.394T>C	c.(394-396)Tac>Cac	p.Y132H		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	132					removal of superoxide radicals (GO:0019430)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	copper ion binding (GO:0005507)|heparin binding (GO:0008201)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				CGGGCCCCACTACAACCCGCT	0.736																																						ENST00000382120.3																			0				prostate(1)|urinary_tract(1)	2						c.(394-396)Tac>Cac		superoxide dismutase 3, extracellular							9.0	10.0	10.0					4																	24801537		1834	3794	5628	SO:0001583	missense	6649				removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding	g.chr4:24801537T>C		CCDS3430.1	4p15.2	2012-09-20			ENSG00000109610	ENSG00000109610	1.15.1.1		11181	protein-coding gene	gene with protein product		185490					Standard	NM_003102		Approved	EC-SOD	uc003gqz.3	P08294	OTTHUMG00000128565	ENST00000382120.3:c.394T>C	4.37:g.24801537T>C	ENSP00000371554:p.Tyr132His						p.Y132H	NM_003102.2	NP_003093.2	P08294	SODE_HUMAN			2	599	+		Breast(46;0.0503)	132					Q5U781|Q6FHA2	Missense_Mutation	SNP	ENST00000382120.3	37	c.394T>C	CCDS3430.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.529774	0.85706	.	.	ENSG00000109610	ENST00000382120	D	0.99760	-6.66	4.75	4.75	0.60458	Superoxide dismutase, copper/zinc binding domain (4);	0.000000	0.64402	D	0.000001	D	0.99840	0.9927	H	0.95780	3.72	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	D	0.96629	0.9465	10	0.87932	D	0	-13.3627	14.2456	0.65986	0.0:0.0:0.0:1.0	.	132	P08294	SODE_HUMAN	H	132	ENSP00000371554:Y132H	ENSP00000371554:Y132H	Y	+	1	0	SOD3	24410635	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.308000	0.78929	1.761000	0.52028	0.454000	0.30748	TAC		0.736	SOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250416.1			3	22	0	0	0	1	0	3	22				
TTYH3	80727	broad.mit.edu	37	7	2687628	2687628	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:2687628T>C	ENST00000258796.7	+	5	867	c.662T>C	c.(661-663)gTc>gCc	p.V221A	TTYH3_ENST00000407643.1_Intron|TTYH3_ENST00000403167.1_Missense_Mutation_p.V50A|TTYH3_ENST00000477439.1_3'UTR	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	221					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CTGCTGGACGTCATCATCTGC	0.706																																						ENST00000258796.7																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(661-663)gTc>gCc		tweety family member 3							108.0	92.0	98.0					7																	2687628		2203	4300	6503	SO:0001583	missense	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2687628T>C		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.662T>C	7.37:g.2687628T>C	ENSP00000258796:p.Val221Ala					TTYH3_ENST00000403167.1_Missense_Mutation_p.V50A|TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000407643.1_Intron	p.V221A	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	5	867	+		Ovarian(82;0.0112)	221					A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	c.662T>C	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.179627	0.57800	.	.	ENSG00000136295	ENST00000258796;ENST00000403167	T;T	0.14516	2.5;2.5	4.34	4.34	0.51931	.	0.062767	0.64402	D	0.000006	T	0.36276	0.0961	M	0.73962	2.25	0.58432	D	0.999992	D;D	0.89917	0.99;1.0	P;D	0.91635	0.819;0.999	T	0.12477	-1.0546	10	0.44086	T	0.13	.	13.8102	0.63260	0.0:0.0:0.0:1.0	.	50;221	Q9C0H2-3;Q9C0H2	.;TTYH3_HUMAN	A	221;50	ENSP00000258796:V221A;ENSP00000385015:V50A	ENSP00000258796:V221A	V	+	2	0	TTYH3	2654154	1.000000	0.71417	0.108000	0.21378	0.271000	0.26615	7.399000	0.79935	1.723000	0.51488	0.459000	0.35465	GTC		0.706	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		21	90	0	0	0	1	0	21	90				
C2orf16	84226	broad.mit.edu	37	2	27800372	27800372	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:27800372C>T	ENST00000408964.2	+	1	984	c.933C>T	c.(931-933)ctC>ctT	p.L311L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	311						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCCAAGGCTCTGTCCTCAAA	0.463																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(931-933)ctC>ctT		chromosome 2 open reading frame 16							103.0	102.0	102.0					2																	27800372		1899	4130	6029	SO:0001819	synonymous_variant	84226							g.chr2:27800372C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.933C>T	2.37:g.27800372C>T							p.L311L	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	984	+	Acute lymphoblastic leukemia(172;0.155)		311					B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.933C>T	CCDS42666.1																																																																																				0.463	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		33	96	0	0	0	1	0	33	96				
PCDHB16	57717	broad.mit.edu	37	5	140563444	140563444	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140563444T>A	ENST00000361016.2	+	1	2465	c.1310T>A	c.(1309-1311)aTa>aAa	p.I437K		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	437	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCACAACATAACAGTGCAG	0.512																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1309-1311)aTa>aAa									127.0	121.0	123.0					5																	140563444		2203	4300	6503	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563444T>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1310T>A	5.37:g.140563444T>A	ENSP00000354293:p.Ile437Lys						p.I437K	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2465	+			437			Cadherin 4.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1310T>A	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	T	10.44	1.350934	0.24512	.	.	ENSG00000196963	ENST00000361016	T	0.44482	0.92	4.3	4.3	0.51218	Cadherin (4);Cadherin-like (1);	0.204155	0.24141	N	0.041176	T	0.68311	0.2987	H	0.98918	4.37	0.09310	N	0.999998	P;B	0.36959	0.575;0.421	P;P	0.48227	0.534;0.571	T	0.68603	-0.5365	10	0.87932	D	0	.	6.3494	0.21367	0.154:0.0:0.1594:0.6866	.	127;437	O15199;Q9NRJ7	.;PCDBG_HUMAN	K	437	ENSP00000354293:I437K	ENSP00000354293:I437K	I	+	2	0	PCDHB16	140543628	.	.	0.007000	0.13788	0.006000	0.05464	.	.	1.577000	0.49804	0.477000	0.44152	ATA		0.512	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		5	194	0	0	0	1	0	5	194				
AHNAK2	113146	broad.mit.edu	37	14	105418137	105418137	+	Silent	SNP	G	G	A	rs556068061	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:105418137G>A	ENST00000333244.5	-	7	3770	c.3651C>T	c.(3649-3651)tcC>tcT	p.S1217S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1217						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCAGGTCAGCGGAAGGGGGCT	0.647													.|||	3	0.000599042	0.0015	0.0	5008	,	,		14741	0.001		0.0	False		,,,				2504	0.0					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3649-3651)tcC>tcT		AHNAK nucleoprotein 2							92.0	66.0	74.0					14																	105418137		1922	3840	5762	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418137G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3651C>T	14.37:g.105418137G>A						AHNAK2_ENST00000557457.1_Intron	p.S1217S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3770	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1217					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.3651C>T	CCDS45177.1																																																																																				0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		108	76	0	0	0	1	0	108	76				
PRPF8	10594	broad.mit.edu	37	17	1554577	1554577	+	Silent	SNP	C	C	A	rs368425914		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:1554577C>A	ENST00000572621.1	-	41	6943	c.6678G>T	c.(6676-6678)acG>acT	p.T2226T	PRPF8_ENST00000304992.6_Silent_p.T2226T|PRPF8_ENST00000575116.1_5'Flank|RILP_ENST00000301336.6_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2226	MPN.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCTTGTAGGCCGTCAGTGTAC	0.617																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(6676-6678)acG>acT		pre-mRNA processing factor 8							41.0	36.0	38.0					17																	1554577		2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1554577C>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6678G>T	17.37:g.1554577C>A						PRPF8_ENST00000304992.6_Silent_p.T2226T	p.T2226T			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	41	6943	-			2226			MPN.		O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.6678G>T	CCDS11010.1																																																																																				0.617	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			8	53	1	0	1	1	1	8	53				
RNF4	6047	broad.mit.edu	37	4	2515440	2515440	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:2515440A>G	ENST00000511600.1	+	8	1982	c.467A>G	c.(466-468)cAt>cGt	p.H156R	RNF4_ENST00000314289.8_Missense_Mutation_p.H156R|RNF4_ENST00000511859.1_Missense_Mutation_p.M103V|RNF4_ENST00000541204.1_Missense_Mutation_p.H156R|RNF4_ENST00000506706.1_Missense_Mutation_p.H156R			P78317	RNF4_HUMAN	ring finger protein 4	156					androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SUMO polymer binding (GO:0032184)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				GAATGCGGCCATGTCTTCTGT	0.483																																						ENST00000511600.1																			0				endometrium(2)|kidney(2)|lung(1)	5						c.(466-468)cAt>cGt		ring finger protein 4							106.0	103.0	104.0					4																	2515440		1950	4157	6107	SO:0001583	missense	6047				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:2515440A>G	U95140	CCDS47001.1, CCDS54713.1	4p16.3	2013-01-09				ENSG00000063978		"""RING-type (C3HC4) zinc fingers"""	10067	protein-coding gene	gene with protein product		602850				9479498	Standard	NM_001185009		Approved	RES4-26, SNURF, SLX5	uc003gfb.3	P78317		ENST00000511600.1:c.467A>G	4.37:g.2515440A>G	ENSP00000426503:p.His156Arg					RNF4_ENST00000541204.1_Missense_Mutation_p.H156R|RNF4_ENST00000506706.1_Missense_Mutation_p.H156R|RNF4_ENST00000511859.1_Missense_Mutation_p.M103V|RNF4_ENST00000314289.8_Missense_Mutation_p.H156R	p.H156R			P78317	RNF4_HUMAN			8	1982	+		all_epithelial(65;0.241)	156					B2R6D6|D6RF58|Q49AR8	Missense_Mutation	SNP	ENST00000511600.1	37	c.467A>G	CCDS47001.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.5|27.5	4.838873|4.838873	0.91117|0.91117	.|.	.|.	ENSG00000063978|ENSG00000063978	ENST00000314289;ENST00000541204;ENST00000502316;ENST00000506706;ENST00000511600|ENST00000536449;ENST00000511859	T;T;T;T;T|.	0.65364|.	-0.15;-0.15;-0.15;-0.15;-0.15|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79329|0.79329	0.4427|0.4427	H|H	0.95816|0.95816	3.725|3.725	0.80722|0.80722	D|D	1|1	D|B	0.89917|0.16396	1.0|0.017	D|B	0.91635|0.13407	0.999|0.009	T|T	0.78692|0.78692	-0.2105|-0.2105	10|7	0.87932|.	D|.	0|.	-12.4285|-12.4285	14.4483|14.4483	0.67367|0.67367	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	156|103	P78317|D6RF58	RNF4_HUMAN|.	R|V	156|104;103	ENSP00000315212:H156R;ENSP00000446369:H156R;ENSP00000423100:H156R;ENSP00000424076:H156R;ENSP00000426503:H156R|.	ENSP00000315212:H156R|.	H|M	+|+	2|1	0|0	RNF4|RNF4	2485238|2485238	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.950000|0.950000	0.60333|0.60333	6.588000|6.588000	0.74076|0.74076	2.014000|2.014000	0.59158|0.59158	0.533000|0.533000	0.62120|0.62120	CAT|ATG		0.483	RNF4-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360920.1	NM_002938		36	104	0	0	0	1	0	36	104				
SPRR3	6707	broad.mit.edu	37	1	152975621	152975621	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:152975621A>G	ENST00000295367.4	+	2	167	c.125A>G	c.(124-126)cAc>cGc	p.H42R	SPRR3_ENST00000542696.1_Missense_Mutation_p.H42R|SPRR3_ENST00000331860.3_Missense_Mutation_p.H42R	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	42					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCCATGCCACTCAAAGGTT	0.547																																						ENST00000331860.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11						c.(124-126)cAc>cGc		small proline-rich protein 3							82.0	71.0	75.0					1																	152975621		2203	4300	6503	SO:0001583	missense	6707				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	g.chr1:152975621A>G	AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.125A>G	1.37:g.152975621A>G	ENSP00000295367:p.His42Arg					SPRR3_ENST00000295367.4_Missense_Mutation_p.H42R|SPRR3_ENST00000542696.1_Missense_Mutation_p.H42R	p.H42R	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	275	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		42					A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	Missense_Mutation	SNP	ENST00000295367.4	37	c.125A>G	CCDS1033.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806625	0.50421	.	.	ENSG00000163209	ENST00000331860;ENST00000443178;ENST00000295367;ENST00000542696	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.02	1.19	0.21007	.	.	.	.	.	T	0.06142	0.0159	M	0.67397	2.05	0.09310	N	1	P;B	0.48640	0.913;0.019	P;B	0.47528	0.549;0.038	T	0.26608	-1.0098	9	0.15066	T	0.55	.	4.743	0.13024	0.6263:0.0:0.0832:0.2905	.	42;42	F5GZ12;Q9UBC9	.;SPRR3_HUMAN	R	42	ENSP00000330391:H42R;ENSP00000402016:H42R;ENSP00000295367:H42R;ENSP00000441477:H42R	ENSP00000295367:H42R	H	+	2	0	SPRR3	151242245	0.000000	0.05858	0.000000	0.03702	0.641000	0.38312	0.031000	0.13710	-0.004000	0.14419	0.460000	0.39030	CAC		0.547	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416		8	58	0	0	0	1	0	8	58				
MAN2C1	4123	broad.mit.edu	37	15	75658881	75658881	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:75658881C>A	ENST00000267978.5	-	4	450	c.404G>T	c.(403-405)gGg>gTg	p.G135V	MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000569482.1_Missense_Mutation_p.G135V|RP11-817O13.8_ENST00000563278.1_lincRNA|MAN2C1_ENST00000565683.1_Missense_Mutation_p.G135V|MAN2C1_ENST00000563622.1_Missense_Mutation_p.G135V	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	135					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GTCTCTTTCCCCCAGCCTGTC	0.572																																						ENST00000565683.1																			0				central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(403-405)gGg>gTg		mannosidase, alpha, class 2C, member 1							61.0	47.0	51.0					15																	75658881		2197	4294	6491	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75658881C>A	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.404G>T	15.37:g.75658881C>A	ENSP00000267978:p.Gly135Val					MAN2C1_ENST00000267978.5_Missense_Mutation_p.G135V|MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000563622.1_Missense_Mutation_p.G135V|MAN2C1_ENST00000569482.1_Missense_Mutation_p.G135V	p.G135V	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN			4	415	-			135					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.404G>T	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	3.213	-0.161209	0.06502	.	.	ENSG00000140400	ENST00000267978;ENST00000421803	T	0.17854	2.25	4.49	-2.24	0.06909	.	1.176470	0.06233	N	0.689013	T	0.08044	0.0201	N	0.08118	0	0.09310	N	1	B;B;B	0.16603	0.006;0.018;0.018	B;B;B	0.18263	0.012;0.021;0.021	T	0.37478	-0.9704	10	0.40728	T	0.16	-0.1447	4.8436	0.13503	0.1456:0.3683:0.0:0.4861	.	135;135;135	B4DH23;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	V	135	ENSP00000267978:G135V	ENSP00000267978:G135V	G	-	2	0	MAN2C1	73445934	0.000000	0.05858	0.003000	0.11579	0.264000	0.26372	0.030000	0.13688	-0.299000	0.08909	-0.515000	0.04445	GGG		0.572	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			6	28	1	0	3.59834e-05	1	3.66827e-05	6	28				
TBC1D17	79735	broad.mit.edu	37	19	50384596	50384596	+	Missense_Mutation	SNP	C	C	T	rs547479893		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:50384596C>T	ENST00000221543.5	+	5	690	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	TBC1D17_ENST00000598789.1_3'UTR|AKT1S1_ENST00000482622.1_5'Flank|TBC1D17_ENST00000535102.2_Missense_Mutation_p.R98C	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	131					autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GTCCATCCGCCGCTCCAAGCC	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		15991	0.0		0.0	False		,,,				2504	0.001					ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(391-393)Cgc>Tgc		TBC1 domain family, member 17							31.0	31.0	31.0					19																	50384596		2203	4299	6502	SO:0001583	missense	79735					intracellular	Rab GTPase activator activity	g.chr19:50384596C>T	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.391C>T	19.37:g.50384596C>T	ENSP00000221543:p.Arg131Cys					TBC1D17_ENST00000535102.2_Missense_Mutation_p.R98C|TBC1D17_ENST00000598789.1_3'UTR	p.R131C	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	5	690	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	131					B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.391C>T	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462305	0.43736	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.34072	1.38;1.38	5.56	4.5	0.54988	Domain of unknown function DUF3548 (1);	0.126192	0.49916	D	0.000128	T	0.47414	0.1444	L	0.42245	1.32	0.45718	D	0.99862	D;P	0.89917	1.0;0.589	D;B	0.65010	0.931;0.063	T	0.40117	-0.9580	10	0.46703	T	0.11	-21.0361	11.1746	0.48593	0.3464:0.6536:0.0:0.0	.	98;131	F5H1W7;Q9HA65	.;TBC17_HUMAN	C	131;98	ENSP00000221543:R131C;ENSP00000446323:R98C	ENSP00000221543:R131C	R	+	1	0	TBC1D17	55076408	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	1.422000	0.34826	1.282000	0.44496	0.561000	0.74099	CGC		0.682	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		16	24	0	0	0	1	0	16	24				
DNMT3L	29947	broad.mit.edu	37	21	45668930	45668930	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:45668930C>T	ENST00000418993.1	-	11	1457	c.974G>A	c.(973-975)aGc>aAc	p.S325N	DNMT3L_ENST00000270172.3_Missense_Mutation_p.S325N|AP001059.5_ENST00000442785.1_RNA	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	325					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TGGGATGTTGCTCCACACGCG	0.612																																						ENST00000270172.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11						c.(973-975)aGc>aAc		DNA (cytosine-5-)-methyltransferase 3-like							61.0	48.0	52.0					21																	45668930		2203	4300	6503	SO:0001583	missense	29947				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	g.chr21:45668930C>T	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.974G>A	21.37:g.45668930C>T	ENSP00000412862:p.Ser325Asn					DNMT3L_ENST00000418993.1_Missense_Mutation_p.S325N	p.S325N	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN		Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)	11	1457	-			325					E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	c.974G>A	CCDS46650.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.78|12.78	2.040218|2.040218	0.35989|0.35989	.|.	.|.	ENSG00000142182|ENSG00000142182	ENST00000436357|ENST00000270172;ENST00000418993	.|T;T	.|0.33216	.|1.42;1.42	3.02|3.02	3.02|3.02	0.34903|0.34903	.|.	.|0.061339	.|0.64402	.|D	.|0.000003	T|T	0.45478|0.45478	0.1344|0.1344	L|L	0.55103|0.55103	1.725|1.725	0.28589|0.28589	N|N	0.909733|0.909733	.|D;D	.|0.61080	.|0.989;0.989	.|D;D	.|0.71656	.|0.974;0.974	T|T	0.22312|0.22312	-1.0220|-1.0220	5|10	.|0.66056	.|D	.|0.02	-30.1889|-30.1889	9.7642|9.7642	0.40550|0.40550	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|325;325	.|Q9UJW3-2;Q9UJW3	.|.;DNM3L_HUMAN	T|N	120|325	.|ENSP00000270172:S325N;ENSP00000412862:S325N	.|ENSP00000270172:S325N	A|S	-|-	1|2	0|0	DNMT3L|DNMT3L	44493358|44493358	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.021000|0.021000	0.10359|0.10359	1.889000|1.889000	0.39718|0.39718	2.003000|2.003000	0.58678|0.58678	0.557000|0.557000	0.71058|0.71058	GCA|AGC		0.612	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369		5	19	0	0	0	1	0	5	19				
SF1	7536	broad.mit.edu	37	11	64537511	64537511	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:64537511C>T	ENST00000377390.3	-	5	741	c.404G>A	c.(403-405)cGt>cAt	p.R135H	SF1_ENST00000422298.2_Missense_Mutation_p.R20H|SF1_ENST00000377387.1_Missense_Mutation_p.R260H|SF1_ENST00000227503.9_Missense_Mutation_p.R135H|SF1_ENST00000433274.2_Missense_Mutation_p.R109H|SF1_ENST00000377394.3_Missense_Mutation_p.R135H|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000334944.5_Missense_Mutation_p.R135H	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	135					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						ATCACTCACACGTGTTGCTGG	0.463																																						ENST00000377390.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(403-405)cGt>cAt		splicing factor 1							95.0	82.0	86.0					11																	64537511		2201	4297	6498	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64537511C>T	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.404G>A	11.37:g.64537511C>T	ENSP00000366607:p.Arg135His					SF1_ENST00000422298.2_Missense_Mutation_p.R20H|SF1_ENST00000227503.9_Missense_Mutation_p.R135H|SF1_ENST00000377387.1_Missense_Mutation_p.R260H|SF1_ENST00000377394.3_Missense_Mutation_p.R135H|SF1_ENST00000433274.2_Missense_Mutation_p.R109H|SF1_ENST00000334944.5_Missense_Mutation_p.R135H	p.R135H	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN			5	741	-			135					B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.404G>A	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808309	0.90707	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	6.04	6.04	0.98038	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	L	0.56396	1.775	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.70935	0.952;0.954;0.971;0.931;0.969;0.969	T	0.61978	-0.6951	10	0.87932	D	0	.	18.0887	0.89466	0.0:1.0:0.0:0.0	.	20;135;135;135;135;260	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	H	260;135;135;135;135;20;109	ENSP00000366604:R260H;ENSP00000366607:R135H;ENSP00000227503:R135H;ENSP00000366611:R135H;ENSP00000334414:R135H;ENSP00000413084:R20H;ENSP00000396793:R109H	ENSP00000227503:R135H	R	-	2	0	SF1	64294087	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.731000	0.68554	2.873000	0.98535	0.563000	0.77884	CGT		0.463	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		7	37	0	0	0	1	0	7	37				
COL6A3	1293	broad.mit.edu	37	2	238244938	238244938	+	Silent	SNP	C	C	T	rs200111289		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:238244938C>T	ENST00000295550.4	-	40	9257	c.8805G>A	c.(8803-8805)gcG>gcA	p.A2935A	COL6A3_ENST00000409809.1_Silent_p.A2729A|COL6A3_ENST00000353578.4_Silent_p.A2729A|COL6A3_ENST00000472056.1_Silent_p.A2328A|COL6A3_ENST00000347401.3_Silent_p.A2734A|COL6A3_ENST00000346358.4_Silent_p.A2735A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2935	Ala-rich.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGGCTTCACCGCCACTGGGG	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17765	0.0		0.0	False		,,,				2504	0.0					ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(8803-8805)gcG>gcA		collagen, type VI, alpha 3							50.0	61.0	57.0					2																	238244938		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238244938C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8805G>A	2.37:g.238244938C>T						COL6A3_ENST00000472056.1_Silent_p.A2328A|COL6A3_ENST00000353578.4_Silent_p.A2729A|COL6A3_ENST00000346358.4_Silent_p.A2735A|COL6A3_ENST00000409809.1_Silent_p.A2729A|COL6A3_ENST00000347401.3_Silent_p.A2734A	p.A2935A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	40	9257	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2935			Ala-rich.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.8805G>A	CCDS33412.1																																																																																				0.627	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		42	133	0	0	0	1	0	42	133				
EPS15L1	58513	broad.mit.edu	37	19	16547765	16547765	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:16547765C>T	ENST00000248070.6	-	6	494	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	EPS15L1_ENST00000455140.2_Missense_Mutation_p.A119T|EPS15L1_ENST00000594975.1_Missense_Mutation_p.A119T|EPS15L1_ENST00000602009.1_5'Flank|EPS15L1_ENST00000535753.2_Missense_Mutation_p.A119T|EPS15L1_ENST00000597937.1_Missense_Mutation_p.A119T	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	119	Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GCCCAGTGGGCCTCTGCAGAG	0.502																																						ENST00000597937.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(355-357)Gcc>Acc		epidermal growth factor receptor pathway substrate 15-like 1							109.0	103.0	105.0					19																	16547765		2203	4300	6503	SO:0001583	missense	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16547765C>T	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.355G>A	19.37:g.16547765C>T	ENSP00000248070:p.Ala119Thr					EPS15L1_ENST00000594975.1_Missense_Mutation_p.A119T|EPS15L1_ENST00000535753.2_Missense_Mutation_p.A119T|EPS15L1_ENST00000455140.2_Missense_Mutation_p.A119T|EPS15L1_ENST00000248070.6_Missense_Mutation_p.A119T	p.A119T	NM_001258376.1	NP_001245305.1	Q9UBC2	EP15R_HUMAN			6	359	-			119					A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.355G>A	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	C	5.719	0.317237	0.10845	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.29142	1.58;1.58;1.58	5.02	2.59	0.31030	EF-hand-like domain (1);	0.692728	0.13829	N	0.359890	T	0.11196	0.0273	N	0.03253	-0.375	0.24914	N	0.99202	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.001;0.001;0.002	T	0.32428	-0.9907	10	0.08837	T	0.75	.	7.2037	0.25895	0.151:0.6689:0.0:0.1801	.	119;119;119;119;119	A8K5P4;A5PL29;A2RRF3;Q9UBC2;G3V0H2	.;.;.;EP15R_HUMAN;.	T	119	ENSP00000393313:A119T;ENSP00000248070:A119T;ENSP00000440103:A119T	ENSP00000248070:A119T	A	-	1	0	EPS15L1	16408765	0.754000	0.28360	1.000000	0.80357	0.921000	0.55340	0.126000	0.15769	1.086000	0.41228	0.561000	0.74099	GCC		0.502	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		12	100	0	0	0	1	0	12	100				
CLDN16	10686	broad.mit.edu	37	3	190106202	190106202	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:190106202T>C	ENST00000264734.2	+	1	542	c.294T>C	c.(292-294)tgT>tgC	p.C98C	CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Silent_p.C98C	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	98					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GGACTGACTGTTGGATGGTGA	0.473																																						ENST00000264734.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19						c.(292-294)tgT>tgC		claudin 16							262.0	245.0	251.0					3																	190106202		2203	4300	6503	SO:0001819	synonymous_variant	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190106202T>C	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.294T>C	3.37:g.190106202T>C						CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Silent_p.C98C	p.C98C	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	1	542	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		98						Silent	SNP	ENST00000264734.2	37	c.294T>C	CCDS3296.1																																																																																				0.473	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		74	241	0	0	0	1	0	74	241				
FAM46A	55603	broad.mit.edu	37	6	82459576	82459576	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:82459576A>G	ENST00000320172.6	-	3	1479	c.1165T>C	c.(1165-1167)Tta>Cta	p.L389L	FAM46A_ENST00000369756.3_Silent_p.L470L|FAM46A_ENST00000369754.3_Silent_p.L408L	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	389					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TGGTCAGCTAACACCCGGATA	0.453																																						ENST00000369754.3																			0				endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12						c.(1222-1224)Tta>Cta		family with sequence similarity 46, member A							217.0	189.0	199.0					6																	82459576		2203	4300	6503	SO:0001819	synonymous_variant	55603							g.chr6:82459576A>G	AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"""chromosome 6 open reading frame 37"""	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.1165T>C	6.37:g.82459576A>G						FAM46A_ENST00000369756.3_Silent_p.L470L|FAM46A_ENST00000320172.6_Silent_p.L389L	p.L408L			Q96IP4	FA46A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0428)	3	1534	-		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)	389					A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Silent	SNP	ENST00000320172.6	37	c.1222T>C	CCDS34489.1																																																																																				0.453	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1			38	82	0	0	0	1	0	38	82				
SFT2D2	375035	broad.mit.edu	37	1	168215989	168215989	+	3'UTR	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:168215989T>C	ENST00000271375.4	+	0	4766				ANKRD36BP1_ENST00000358576.4_RNA	NM_199344.2	NP_955376.1			SFT2 domain containing 2											lung(3)|skin(1)	4	all_hematologic(923;0.215)					TTCTCCAGTTTAGAACGGAGC	0.403																																						ENST00000358576.4																			0				lung(1)	1																																												SO:0001624	3_prime_UTR_variant	84832							g.chr1:168215989T>C	AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.*4211T>C	1.37:g.168215989T>C								NR_026844.1						0	592	-									RNA	SNP	ENST00000271375.4	37		CCDS1271.1	.	.	.	.	.	.	.	.	.	.	T	8.291	0.817755	0.16607	.	.	ENSG00000214262	ENST00000358576	.	.	.	0.827	0.827	0.18835	.	.	.	.	.	T	0.09686	0.0238	.	.	.	.	.	.	.	.	.	.	.	.	T	0.26677	-1.0096	4	0.14252	T	0.57	.	5.8276	0.18562	0.0:0.0:0.0:1.0	.	.	.	.	E	99	.	ENSP00000351384:K99E	K	-	1	0	ANKRD36BP1	166482613	1.000000	0.71417	0.264000	0.24511	0.475000	0.33008	1.752000	0.38349	0.609000	0.30018	0.172000	0.16884	AAA		0.403	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083827.2	NM_199344		3	15	0	0	0	1	0	3	15				
SLC8A3	6547	broad.mit.edu	37	14	70634742	70634742	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:70634742A>G	ENST00000381269.2	-	2	1151	c.398T>C	c.(397-399)gTc>gCc	p.V133A	SLC8A3_ENST00000357887.3_Missense_Mutation_p.V133A|SLC8A3_ENST00000356921.2_Missense_Mutation_p.V133A|SLC8A3_ENST00000528359.1_Missense_Mutation_p.V133A|SLC8A3_ENST00000534137.1_Missense_Mutation_p.V133A	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	133					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CAGGTTGGAGACAGTTTCATT	0.483																																						ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(397-399)gTc>gCc		solute carrier family 8 (sodium/calcium exchanger), member 3							116.0	104.0	108.0					14																	70634742		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634742A>G	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.398T>C	14.37:g.70634742A>G	ENSP00000370669:p.Val133Ala					SLC8A3_ENST00000534137.1_Missense_Mutation_p.V133A|SLC8A3_ENST00000357887.3_Missense_Mutation_p.V133A|SLC8A3_ENST00000356921.2_Missense_Mutation_p.V133A|SLC8A3_ENST00000528359.1_Missense_Mutation_p.V133A	p.V133A	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	1151	-			133					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.398T>C	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.158550	0.57368	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.48	5.48	0.80851	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.88912	0.6566	H	0.98407	4.225	0.80722	D	1	P;P;D;D	0.62365	0.47;0.526;0.991;0.991	B;P;D;D	0.78314	0.421;0.557;0.991;0.991	D	0.93171	0.6566	10	0.87932	D	0	.	15.5805	0.76432	1.0:0.0:0.0:0.0	.	133;133;133;133	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	A	133	ENSP00000349392:V133A;ENSP00000370669:V133A;ENSP00000350560:V133A;ENSP00000436688:V133A;ENSP00000433531:V133A	ENSP00000349392:V133A	V	-	2	0	SLC8A3	69704495	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.332000	0.96446	2.081000	0.62600	0.528000	0.53228	GTC		0.483	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			18	53	0	0	0	1	0	18	53				
MATN2	4147	broad.mit.edu	37	8	98943520	98943520	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:98943520T>C	ENST00000520016.1	+	2	606	c.482T>C	c.(481-483)gTg>gCg	p.V161A	MATN2_ENST00000524308.1_Missense_Mutation_p.V161A|MATN2_ENST00000521689.1_Missense_Mutation_p.V161A|MATN2_ENST00000254898.5_Missense_Mutation_p.V161A|MATN2_ENST00000522025.2_Intron			O00339	MATN2_HUMAN	matrilin 2	161	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AGGGAGAATGTGCCACGGGTC	0.602																																						ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(481-483)gTg>gCg		matrilin 2							37.0	42.0	40.0					8																	98943520		2057	4218	6275	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98943520T>C	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.482T>C	8.37:g.98943520T>C	ENSP00000430487:p.Val161Ala					MATN2_ENST00000524308.1_Missense_Mutation_p.V161A|MATN2_ENST00000521689.1_Missense_Mutation_p.V161A|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.V161A	p.V161A	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		3	713	+	Breast(36;1.43e-06)		161			VWFA 1.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.482T>C	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	T	31	5.066882	0.93898	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.97	5.97	0.96955	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000031	D	0.85478	0.5706	L	0.48986	1.54	0.49915	D	0.999834	D;D;D;D	0.89917	0.999;0.997;1.0;1.0	D;D;D;D	0.85130	0.992;0.978;0.997;0.997	D	0.86544	0.1830	10	0.72032	D	0.01	-22.4947	16.4608	0.84044	0.0:0.0:0.0:1.0	.	161;161;161;161	E9PF03;O00339-2;O00339;Q8N2G3	.;.;MATN2_HUMAN;.	A	161	ENSP00000429977:V161A;ENSP00000254898:V161A;ENSP00000430221:V161A;ENSP00000430487:V161A	ENSP00000254898:V161A	V	+	2	0	MATN2	99012696	1.000000	0.71417	0.918000	0.36340	0.992000	0.81027	7.991000	0.88244	2.288000	0.76882	0.533000	0.62120	GTG		0.602	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			4	64	0	0	0	1	0	4	64				
FAM212B	55924	broad.mit.edu	37	1	112269753	112269753	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:112269753C>T	ENST00000357260.5	-	2	912	c.731G>A	c.(730-732)cGc>cAc	p.R244H	FAM212B_ENST00000444059.2_Missense_Mutation_p.R229H|FAM212B_ENST00000534365.1_Intron	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	244										cervix(1)|endometrium(1)	2						CTTCTGTGAGCGGCCGGTTCG	0.617																																						ENST00000357260.5																			0				cervix(1)|endometrium(1)	2						c.(730-732)cGc>cAc		family with sequence similarity 212, member B							61.0	66.0	64.0					1																	112269753		2203	4300	6503	SO:0001583	missense	55924							g.chr1:112269753C>T	AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 183"""	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.731G>A	1.37:g.112269753C>T	ENSP00000349805:p.Arg244His					FAM212B_ENST00000444059.2_Missense_Mutation_p.R229H|FAM212B_ENST00000534365.1_Intron	p.R244H	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN			2	912	-			244					B3KP38|B4DF94|Q9NTI6	Missense_Mutation	SNP	ENST00000357260.5	37	c.731G>A	CCDS841.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696087	0.48202	.	.	ENSG00000197852	ENST00000357260;ENST00000444059	.	.	.	4.93	4.93	0.64822	.	0.061291	0.64402	D	0.000012	T	0.51092	0.1654	L	0.32530	0.975	0.34183	D	0.671209	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	T	0.56823	-0.7915	9	0.51188	T	0.08	-18.9743	13.6697	0.62418	0.0:1.0:0.0:0.0	.	229;244	Q9NTI7-2;Q9NTI7	.;CA183_HUMAN	H	244;229	.	ENSP00000349805:R244H	R	-	2	0	C1orf183	112071276	1.000000	0.71417	0.569000	0.28460	0.039000	0.13416	6.056000	0.71111	2.287000	0.76781	0.555000	0.69702	CGC		0.617	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033060.2	NM_019099		35	119	0	0	0	1	0	35	119				
DST	667	broad.mit.edu	37	6	56471259	56471259	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:56471259T>C	ENST00000361203.3	-	36	7541	c.7534A>G	c.(7534-7536)Act>Gct	p.T2512A	DST_ENST00000370754.5_Missense_Mutation_p.T2690A|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.T2512A|DST_ENST00000446842.2_Missense_Mutation_p.T2186A|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.T2512A			Q03001	DYST_HUMAN	dystonin	2512					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTGATCCAGTTTCCAGTGAC	0.378																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(8068-8070)Act>Gct		dystonin							102.0	92.0	95.0					6																	56471259		1915	4133	6048	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56471259T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.7534A>G	6.37:g.56471259T>C	ENSP00000354508:p.Thr2512Ala					DST_ENST00000370769.4_Missense_Mutation_p.T2512A|DST_ENST00000312431.6_Missense_Mutation_p.T2512A|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.T2186A|DST_ENST00000361203.3_Missense_Mutation_p.T2512A|DST_ENST00000244364.6_Intron	p.T2690A			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	8067	-	Lung NSC(77;0.103)		2512					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.8068A>G		.	.	.	.	.	.	.	.	.	.	T	12.46	1.943708	0.34283	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.82255	-0.09;-0.1;0.84;-1.59;-0.14;-0.38	4.48	-4.74	0.03249	.	0.545964	0.16293	N	0.220827	T	0.53094	0.1775	.	.	.	0.26163	N	0.979979	P	0.35348	0.496	B	0.38264	0.269	T	0.50083	-0.8869	8	0.72032	D	0.01	.	0.3345	0.00324	0.2547:0.1559:0.263:0.3264	.	2186	Q03001-9	.	A	2690;2512;2186;2512;2512;2186	ENSP00000359790:T2690A;ENSP00000359805:T2512A;ENSP00000393645:T2186A;ENSP00000307959:T2512A;ENSP00000354508:T2512A;ENSP00000404924:T2186A	ENSP00000307959:T2512A	T	-	1	0	DST	56579218	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	0.087000	0.14958	-0.965000	0.03591	0.374000	0.22700	ACT		0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		12	45	0	0	0	1	0	12	45				
MTNR1B	4544	broad.mit.edu	37	11	92714938	92714938	+	Silent	SNP	C	C	T	rs200424852		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:92714938C>T	ENST00000257068.2	+	2	555	c.549C>T	c.(547-549)taC>taT	p.Y183Y		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	183					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.Y183Y(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CCCTGGAGTACGACCCACGCA	0.607																																						ENST00000257068.2																			1	Substitution - coding silent(1)	p.Y183Y(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(547-549)taC>taT		melatonin receptor 1B	Ramelteon(DB00980)						102.0	97.0	99.0					11																	92714938		2201	4298	6499	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92714938C>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.549C>T	11.37:g.92714938C>T							p.Y183Y	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			2	555	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	183						Silent	SNP	ENST00000257068.2	37	c.549C>T	CCDS8290.1																																																																																				0.607	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			15	58	0	0	0	1	0	15	58				
INTS3	65123	broad.mit.edu	37	1	153744404	153744404	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:153744404C>T	ENST00000318967.2	+	26	3253	c.2685C>T	c.(2683-2685)ctC>ctT	p.L895L	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000456435.1_Silent_p.L689L|SLC27A3_ENST00000271857.2_5'Flank|INTS3_ENST00000512605.1_Silent_p.L689L|INTS3_ENST00000435409.2_Silent_p.L895L	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	896					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGTCCCTGCTCATCAAGAACA	0.612											OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000456435.1																			0				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(2065-2067)ctC>ctT		integrator complex subunit 3							83.0	62.0	69.0					1																	153744404		2203	4300	6503	SO:0001819	synonymous_variant	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153744404C>T	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.2685C>T	1.37:g.153744404C>T			OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1757	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000318967.2_Silent_p.L895L|INTS3_ENST00000435409.2_Silent_p.L895L|INTS3_ENST00000512605.1_Silent_p.L689L	p.L689L			Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		26	3253	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		896					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	ENST00000318967.2	37	c.2067C>T	CCDS1052.1																																																																																				0.612	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		12	37	0	0	0	1	0	12	37				
XPR1	9213	broad.mit.edu	37	1	180832973	180832973	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:180832973A>G	ENST00000367590.4	+	12	1829	c.1631A>G	c.(1630-1632)aAc>aGc	p.N544S	XPR1_ENST00000367589.3_Missense_Mutation_p.N479S	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	544	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GCTGGAGAGAACACTTTCCTC	0.398																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(1630-1632)aAc>aGc		xenotropic and polytropic retrovirus receptor 1							122.0	120.0	121.0					1																	180832973		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180832973A>G	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1631A>G	1.37:g.180832973A>G	ENSP00000356562:p.Asn544Ser					XPR1_ENST00000367589.3_Missense_Mutation_p.N479S	p.N544S	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			12	1829	+			544			EXS.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.1631A>G	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.608912	0.87258	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.45668	0.89;0.89	5.49	5.49	0.81192	EXS, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	M	0.76328	2.33	0.44619	D	0.997592	P;P	0.51240	0.843;0.943	P;P	0.53722	0.697;0.733	T	0.62618	-0.6816	10	0.59425	D	0.04	-13.6689	15.2526	0.73559	1.0:0.0:0.0:0.0	.	479;544	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	S	544;479	ENSP00000356562:N544S;ENSP00000356561:N479S	ENSP00000356561:N479S	N	+	2	0	XPR1	179099596	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.210000	0.95106	2.084000	0.62774	0.533000	0.62120	AAC		0.398	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		30	76	0	0	0	1	0	30	76				
LRRC4B	94030	broad.mit.edu	37	19	51022098	51022098	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:51022098G>A	ENST00000599957.1	-	3	1069	c.872C>T	c.(871-873)tCg>tTg	p.S291L	LRRC4B_ENST00000389201.3_Missense_Mutation_p.S291L			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	291					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTGGGGCAGCGACATCAGGTT	0.637																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(871-873)tCg>tTg		leucine rich repeat containing 4B							96.0	113.0	107.0					19																	51022098		2180	4269	6449	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51022098G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.872C>T	19.37:g.51022098G>A	ENSP00000471502:p.Ser291Leu					LRRC4B_ENST00000389201.3_Missense_Mutation_p.S291L	p.S291L			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1069	-		all_neural(266;0.131)	291					Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.872C>T	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567552	0.28003	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	T	0.59224	0.28	4.05	4.05	0.47172	.	0.000000	0.64402	U	0.000001	T	0.49355	0.1552	L	0.59436	1.845	0.58432	D	0.999996	P	0.36483	0.555	B	0.29077	0.098	T	0.53027	-0.8496	10	0.32370	T	0.25	.	14.1137	0.65139	0.0:0.0:1.0:0.0	.	291	Q9NT99	LRC4B_HUMAN	L	291	ENSP00000373853:S291L	ENSP00000373853:S291L	S	-	2	0	LRRC4B	55713910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.401000	0.73256	2.274000	0.75844	0.561000	0.74099	TCG		0.637	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		23	111	0	0	0	1	0	23	111				
PODXL	5420	broad.mit.edu	37	7	131193775	131193775	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:131193775C>A	ENST00000378555.3	-	5	1283	c.1036G>T	c.(1036-1038)Gat>Tat	p.D346Y	PODXL_ENST00000541194.1_Missense_Mutation_p.D348Y|PODXL_ENST00000322985.9_Missense_Mutation_p.D314Y|PODXL_ENST00000465001.1_5'Flank|PODXL_ENST00000537928.1_Intron			O00592	PODXL_HUMAN	podocalyxin-like	346					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GTCTCAAGATCCTCACACTTT	0.507																																						ENST00000541194.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1042-1044)Gat>Tat		podocalyxin-like							177.0	131.0	146.0					7																	131193775		2203	4300	6503	SO:0001583	missense	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131193775C>A		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1036G>T	7.37:g.131193775C>A	ENSP00000367817:p.Asp346Tyr					PODXL_ENST00000378555.3_Missense_Mutation_p.D346Y|PODXL_ENST00000537928.1_Intron|PODXL_ENST00000322985.9_Missense_Mutation_p.D314Y	p.D348Y	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			5	1299	-	Melanoma(18;0.162)		346					A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	c.1042G>T	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	C	7.516	0.655757	0.14580	.	.	ENSG00000128567	ENST00000541194;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T	0.15256	2.64;2.66;2.44	3.85	-7.7	0.01259	.	1.989550	0.02252	N	0.066694	T	0.07143	0.0181	N	0.08118	0	0.09310	N	1	B;B	0.23490	0.086;0.021	B;B	0.23150	0.044;0.02	T	0.20907	-1.0261	10	0.59425	D	0.04	0.2457	1.5583	0.02589	0.4444:0.2292:0.1527:0.1736	.	314;346	O00592-2;O00592	.;PODXL_HUMAN	Y	348;304;346;314	ENSP00000440518:D348Y;ENSP00000367817:D346Y;ENSP00000319782:D314Y	ENSP00000319782:D314Y	D	-	1	0	PODXL	130844315	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.383000	0.02544	-2.425000	0.00561	-1.193000	0.01689	GAT		0.507	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		5	119	1	0	1.23904e-05	1	1.26627e-05	5	119				
KIF6	221458	broad.mit.edu	37	6	39313554	39313554	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:39313554G>C	ENST00000287152.7	-	21	2337	c.2243C>G	c.(2242-2244)gCc>gGc	p.A748G	KIF6_ENST00000538893.1_Missense_Mutation_p.A692G|KIF6_ENST00000541946.1_Missense_Mutation_p.A199G|KIF6_ENST00000229913.5_Missense_Mutation_p.A199G|KIF6_ENST00000373213.4_Missense_Mutation_p.A587G|KIF6_ENST00000394362.1_Missense_Mutation_p.A182G|KIF6_ENST00000373215.3_Missense_Mutation_p.A731G|KIF6_ENST00000373216.3_Missense_Mutation_p.A731G	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	748					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GATTTTCCTGGCATTCACATC	0.473																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(2242-2244)gCc>gGc		kinesin family member 6							109.0	96.0	100.0					6																	39313554		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39313554G>C	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.2243C>G	6.37:g.39313554G>C	ENSP00000287152:p.Ala748Gly					KIF6_ENST00000541946.1_Missense_Mutation_p.A199G|KIF6_ENST00000373216.3_Missense_Mutation_p.A731G|KIF6_ENST00000373213.4_Missense_Mutation_p.A587G|KIF6_ENST00000229913.5_Missense_Mutation_p.A199G|KIF6_ENST00000373215.3_Missense_Mutation_p.A731G|KIF6_ENST00000394362.1_Missense_Mutation_p.A182G|KIF6_ENST00000538893.1_Missense_Mutation_p.A692G	p.A748G	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			21	2337	-			748					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.2243C>G	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.32|12.32	1.903959|1.903959	0.33628|0.33628	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000373215;ENST00000538893;ENST00000541946|ENST00000458470	T;T;T;T;T;T;T;T|.	0.72282|.	-0.57;1.47;-0.61;-0.39;1.51;-0.58;-0.64;1.48|.	3.97|3.97	2.05|2.05	0.26809|0.26809	.|.	.|.	.|.	.|.	.|.	T|T	0.16896|0.16896	0.0406|0.0406	L|L	0.40543|0.40543	1.245|1.245	0.23314|0.23314	N|N	0.997924|0.997924	B;B;P;B|.	0.36535|.	0.11;0.11;0.557;0.118|.	B;B;B;B|.	0.27500|.	0.04;0.04;0.08;0.018|.	T|T	0.22765|0.22765	-1.0207|-1.0207	9|5	0.22109|.	T|.	0.4|.	.|.	6.5397|6.5397	0.22372|0.22372	0.0:0.202:0.5893:0.2087|0.0:0.202:0.5893:0.2087	.|.	731;692;731;748|.	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9|.	.;.;.;KIF6_HUMAN|.	G|A	748;182;731;587;199;731;692;199|623	ENSP00000287152:A748G;ENSP00000377889:A182G;ENSP00000362312:A731G;ENSP00000362309:A587G;ENSP00000229913:A199G;ENSP00000362311:A731G;ENSP00000441435:A692G;ENSP00000439064:A199G|.	ENSP00000229913:A199G|.	A|P	-|-	2|1	0|0	KIF6|KIF6	39421532|39421532	0.825000|0.825000	0.29262|0.29262	0.353000|0.353000	0.25747|0.25747	0.903000|0.903000	0.53119|0.53119	1.053000|1.053000	0.30442|0.30442	0.382000|0.382000	0.24878|0.24878	0.563000|0.563000	0.77884|0.77884	GCC|CCA		0.473	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		13	38	0	0	0	1	0	13	38				
NUP160	23279	broad.mit.edu	37	11	47861552	47861552	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:47861552A>T	ENST00000378460.2	-	4	637	c.591T>A	c.(589-591)gaT>gaA	p.D197E	NUP160_ENST00000528071.1_Missense_Mutation_p.D83E|NUP160_ENST00000530326.1_Missense_Mutation_p.D83E|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000526870.1_3'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	197					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AGTTGCAAGGATCTGTGAAAT	0.418																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(589-591)gaT>gaA		nucleoporin 160kDa							103.0	97.0	99.0					11																	47861552		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47861552A>T	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.591T>A	11.37:g.47861552A>T	ENSP00000367721:p.Asp197Glu					NUP160_ENST00000530326.1_Missense_Mutation_p.D83E|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000526870.1_3'UTR|NUP160_ENST00000528071.1_Missense_Mutation_p.D83E	p.D197E	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			4	637	-			197					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.591T>A	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.039966	0.55003	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.50813	0.73;0.73;0.73	5.44	3.14	0.36123	.	0.160135	0.53938	D	0.000053	T	0.40570	0.1122	L	0.55103	1.725	0.80722	D	1	B	0.20164	0.042	B	0.22386	0.039	T	0.14896	-1.0456	10	0.30078	T	0.28	.	9.3291	0.38010	0.8549:0.0:0.1451:0.0	.	197	Q12769	NU160_HUMAN	E	197;83;83	ENSP00000367721:D197E;ENSP00000433590:D83E;ENSP00000432367:D83E	ENSP00000367721:D197E	D	-	3	2	NUP160	47818128	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	0.584000	0.23864	0.385000	0.24970	0.533000	0.62120	GAT		0.418	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		12	107	0	0	0	1	0	12	107				
VWA8	23078	broad.mit.edu	37	13	42457576	42457576	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:42457576A>G	ENST00000379310.3	-	9	1095	c.1027T>C	c.(1027-1029)Tat>Cat	p.Y343H	VWA8_ENST00000281496.6_Missense_Mutation_p.Y343H	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	343						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										AAAATACTATATGGATAAAGC	0.373																																						ENST00000379310.3																			0											c.(1027-1029)Tat>Cat		von Willebrand factor A domain containing 8							160.0	138.0	145.0					13																	42457576		2203	4300	6503	SO:0001583	missense	23078							g.chr13:42457576A>G	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1027T>C	13.37:g.42457576A>G	ENSP00000368612:p.Tyr343His					VWA8_ENST00000281496.6_Missense_Mutation_p.Y343H	p.Y343H	NM_015058.1	NP_055873.1					9	1095	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.1027T>C	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.388002	0.61956	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.13420	2.78;2.59	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000003	T	0.39733	0.1089	M	0.83953	2.67	0.58432	D	0.999999	D	0.56287	0.975	D	0.64687	0.928	T	0.27706	-1.0066	10	0.46703	T	0.11	.	15.6901	0.77442	1.0:0.0:0.0:0.0	.	343	A3KMH1	K0564_HUMAN	H	247;343;343;343	ENSP00000368612:Y343H;ENSP00000281496:Y343H	ENSP00000251030:Y247H	Y	-	1	0	KIAA0564	41355576	1.000000	0.71417	0.077000	0.20336	0.415000	0.31203	8.360000	0.90095	2.098000	0.63641	0.379000	0.24179	TAT		0.373	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		15	60	0	0	0	1	0	15	60				
LAD1	3898	broad.mit.edu	37	1	201356220	201356220	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:201356220C>T	ENST00000391967.2	-	3	570	c.269G>A	c.(268-270)aGa>aAa	p.R90K	LAD1_ENST00000367313.3_Missense_Mutation_p.R104K	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	90						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CTGCCGTGTTCTGAGGATGCT	0.622																																						ENST00000391967.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						c.(268-270)aGa>aAa		ladinin 1							39.0	38.0	38.0					1																	201356220		2203	4300	6503	SO:0001583	missense	3898					basement membrane	structural molecule activity	g.chr1:201356220C>T	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.269G>A	1.37:g.201356220C>T	ENSP00000375829:p.Arg90Lys					LAD1_ENST00000367313.3_Missense_Mutation_p.R104K	p.R90K	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN			3	570	-			90					O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	c.269G>A	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374704	0.61735	.	.	ENSG00000159166	ENST00000391967;ENST00000367313	T;T	0.19394	2.22;2.15	4.96	4.04	0.47022	.	0.119448	0.53938	N	0.000044	T	0.37433	0.1003	M	0.65975	2.015	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.71184	0.958;0.972	T	0.09907	-1.0653	10	0.30078	T	0.28	-16.1224	8.266	0.31815	0.0:0.8931:0.0:0.1069	.	104;90	E9PDI4;O00515	.;LAD1_HUMAN	K	90;104	ENSP00000375829:R90K;ENSP00000356282:R104K	ENSP00000356282:R104K	R	-	2	0	LAD1	199622843	0.018000	0.18449	0.122000	0.21767	0.609000	0.37215	2.681000	0.46926	2.293000	0.77203	0.563000	0.77884	AGA		0.622	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		19	31	0	0	0	1	0	19	31				
CLDN11	5010	broad.mit.edu	37	3	170150423	170150423	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:170150423G>A	ENST00000064724.3	+	3	705	c.503G>A	c.(502-504)tGc>tAc	p.C168Y	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000489485.1_3'UTR	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	168					axon ensheathment (GO:0008366)|calcium-independent cell-cell adhesion (GO:0016338)|spermatogenesis (GO:0007283)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GCTGTGCTGTGCCTCGTGGGT	0.587																																						ENST00000064724.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12						c.(502-504)tGc>tAc		claudin 11							186.0	168.0	174.0					3																	170150423		2203	4300	6503	SO:0001583	missense	5010				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:170150423G>A	AF068863	CCDS3213.1	3q26.2-q26.3	2008-08-01	2008-08-01		ENSG00000013297	ENSG00000013297		"""Claudins"""	8514	protein-coding gene	gene with protein product		601326	"""oligodendrocyte transmembrane protein"""	OTM		8661061, 8797478	Standard	NM_005602		Approved	OSP	uc003fgx.3	O75508	OTTHUMG00000158940	ENST00000064724.3:c.503G>A	3.37:g.170150423G>A	ENSP00000064724:p.Cys168Tyr					CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000486975.1_Intron	p.C168Y	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		3	705	+	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		168					B2R7C1|D3DNQ5|Q5U0P3	Missense_Mutation	SNP	ENST00000064724.3	37	c.503G>A	CCDS3213.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347908	0.82022	.	.	ENSG00000013297	ENST00000064724	D	0.88975	-2.45	5.83	5.83	0.93111	.	0.045277	0.85682	D	0.000000	D	0.93552	0.7942	M	0.84683	2.71	0.80722	D	1	P	0.51791	0.948	P	0.54815	0.761	D	0.94075	0.7339	10	0.72032	D	0.01	.	16.3852	0.83502	0.0:0.1315:0.8685:0.0	.	168	O75508	CLD11_HUMAN	Y	168	ENSP00000064724:C168Y	ENSP00000064724:C168Y	C	+	2	0	CLDN11	171633117	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.989000	0.70587	2.770000	0.95276	0.655000	0.94253	TGC		0.587	CLDN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352403.1	NM_005602		37	111	0	0	0	1	0	37	111				
FLT1	2321	broad.mit.edu	37	13	28877396	28877396	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:28877396A>G	ENST00000282397.4	-	30	4176	c.3925T>C	c.(3925-3927)Tac>Cac	p.Y1309H	FLT1_ENST00000543394.1_Missense_Mutation_p.Y332H|FLT1_ENST00000540678.1_Missense_Mutation_p.Y527H	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1309					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCGTGGTCGTAGGTGAACCTG	0.577																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(3925-3927)Tac>Cac		fms-related tyrosine kinase 1	Sunitinib(DB01268)						99.0	85.0	90.0					13																	28877396		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28877396A>G	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3925T>C	13.37:g.28877396A>G	ENSP00000282397:p.Tyr1309His					FLT1_ENST00000540678.1_Missense_Mutation_p.Y527H|FLT1_ENST00000543394.1_Missense_Mutation_p.Y332H	p.Y1309H	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	30	4176	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1309					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.3925T>C	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	2.868	-0.234599	0.05983	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.76968	-0.83;-1.04;-1.06	4.84	2.24	0.28232	.	0.599517	0.16981	N	0.191720	T	0.59418	0.2192	L	0.27053	0.805	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.38308	-0.9667	10	0.15952	T	0.53	.	5.9195	0.19073	0.6626:0.1664:0.0:0.1711	.	1309	P17948	VGFR1_HUMAN	H	1309;332;527	ENSP00000282397:Y1309H;ENSP00000437841:Y332H;ENSP00000443311:Y527H	ENSP00000282397:Y1309H	Y	-	1	0	FLT1	27775396	0.325000	0.24660	0.001000	0.08648	0.001000	0.01503	3.307000	0.51888	0.170000	0.19704	-0.472000	0.04984	TAC		0.577	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			11	98	0	0	0	1	0	11	98				
PTBP2	58155	broad.mit.edu	37	1	97272452	97272452	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:97272452T>A	ENST00000426398.2	+	11	1152	c.1109T>A	c.(1108-1110)aTt>aAt	p.I370N	PTBP2_ENST00000370197.1_Missense_Mutation_p.I375N|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Missense_Mutation_p.I375N|PTBP2_ENST00000609116.1_Missense_Mutation_p.I370N|PTBP2_ENST00000394184.3_Missense_Mutation_p.I386N|PTBP2_ENST00000541987.1_3'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	370	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CGTGTGAAGATTTTATACAAT	0.343																																						ENST00000236228.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26						c.(1108-1110)aTt>aAt		polypyrimidine tract binding protein 2							135.0	133.0	133.0					1																	97272452		2203	4300	6503	SO:0001583	missense	58155						nucleotide binding	g.chr1:97272452T>A	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.1109T>A	1.37:g.97272452T>A	ENSP00000412788:p.Ile370Asn					PTBP2_ENST00000394184.3_Missense_Mutation_p.I386N|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Missense_Mutation_p.I375N|PTBP2_ENST00000426398.2_Missense_Mutation_p.I370N|PTBP2_ENST00000370197.1_Missense_Mutation_p.I375N|PTBP2_ENST00000541987.1_3'UTR	p.I370N	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	11	1191	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	370			RRM 3.		Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	c.1109T>A	CCDS754.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.157090	0.57259	.	.	ENSG00000117569	ENST00000236228;ENST00000543738;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184	T;T;T;T;T	0.56103	0.53;0.48;0.51;0.51;0.49	5.53	5.53	0.82687	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.79684	0.4488	H	0.97611	4.04	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.994;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.995;0.999;0.997;0.999	D	0.87427	0.2386	10	0.87932	D	0	-5.1381	15.6554	0.77129	0.0:0.0:0.0:1.0	.	378;386;375;370;370;375	B4DSU5;B4DSS8;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3	.;.;.;PTBP2_HUMAN;.;.	N	370;42;375;375;370;386	ENSP00000236228:I370N;ENSP00000359217:I375N;ENSP00000359216:I375N;ENSP00000412788:I370N;ENSP00000377738:I386N	ENSP00000236228:I370N	I	+	2	0	PTBP2	97045040	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.095000	0.63458	0.460000	0.39030	ATT		0.343	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			16	59	0	0	0	1	0	16	59				
MAP3K4	4216	broad.mit.edu	37	6	161507695	161507695	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:161507695T>G	ENST00000392142.4	+	9	2700	c.2552T>G	c.(2551-2553)gTc>gGc	p.V851G	MAP3K4_ENST00000366919.2_Missense_Mutation_p.V851G|MAP3K4_ENST00000366920.2_Missense_Mutation_p.V851G|MAP3K4_ENST00000348824.7_Missense_Mutation_p.V851G	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	851					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAACAGTATGTCAAGGTAAGT	0.378																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(2551-2553)gTc>gGc		mitogen-activated protein kinase kinase kinase 4							67.0	65.0	66.0					6																	161507695		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161507695T>G	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2552T>G	6.37:g.161507695T>G	ENSP00000375986:p.Val851Gly					MAP3K4_ENST00000348824.7_Missense_Mutation_p.V851G|MAP3K4_ENST00000366920.2_Missense_Mutation_p.V851G|MAP3K4_ENST00000366919.2_Missense_Mutation_p.V851G	p.V851G	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	9	2700	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	851					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.2552T>G	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.813966	0.70912	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.73469	-0.75;-0.74;-0.74;-0.75	5.29	5.29	0.74685	.	0.081305	0.49305	D	0.000150	T	0.65647	0.2711	L	0.60455	1.87	0.58432	D	0.999995	P;B;B	0.41232	0.743;0.383;0.44	P;B;B	0.45232	0.474;0.231;0.169	T	0.72966	-0.4131	10	0.72032	D	0.01	-29.9902	9.9714	0.41757	0.0:0.0763:0.0:0.9237	.	851;851;851	F5H538;Q9Y6R4-2;Q9Y6R4	.;.;M3K4_HUMAN	G	851	ENSP00000355886:V851G;ENSP00000375986:V851G;ENSP00000355887:V851G;ENSP00000297332:V851G	ENSP00000297332:V851G	V	+	2	0	MAP3K4	161427685	0.999000	0.42202	0.362000	0.25862	0.948000	0.59901	3.168000	0.50801	2.124000	0.65301	0.533000	0.62120	GTC		0.378	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			3	46	0	0	0	1	0	3	46				
KIF18B	146909	broad.mit.edu	37	17	43003861	43003861	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:43003861T>C	ENST00000593135.1	-	15	2470	c.2373A>G	c.(2371-2373)tcA>tcG	p.S791S	KIF18B_ENST00000339151.4_Silent_p.S794S|KIF18B_ENST00000438933.2_Silent_p.S803S|KIF18B_ENST00000587309.1_Silent_p.S803S|KIF18B_ENST00000590129.1_Silent_p.S812S	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	803					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CATGGGAGACTGAGGAACTGA	0.587																																						ENST00000587309.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(2407-2409)tcA>tcG		kinesin family member 18B							39.0	46.0	43.0					17																	43003861		2046	4187	6233	SO:0001819	synonymous_variant	146909							g.chr17:43003861T>C		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.2373A>G	17.37:g.43003861T>C						KIF18B_ENST00000339151.4_Silent_p.S794S|KIF18B_ENST00000438933.2_Silent_p.S803S|KIF18B_ENST00000593135.1_Silent_p.S791S|KIF18B_ENST00000590129.1_Silent_p.S812S	p.S803S	NM_001264573.1	NP_001251503.1					15	2432	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Silent	SNP	ENST00000593135.1	37	c.2409A>G	CCDS45709.2																																																																																				0.587	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		3	12	0	0	0	1	0	3	12				
STXBP6	29091	broad.mit.edu	37	14	25288463	25288463	+	Intron	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:25288463G>A	ENST00000323944.5	-	5	903				STXBP6_ENST00000396700.1_Intron|STXBP6_ENST00000548369.1_Missense_Mutation_p.P28L|STXBP6_ENST00000548724.1_Intron|STXBP6_ENST00000358326.2_Intron|STXBP6_ENST00000546511.1_Intron|STXBP6_ENST00000419632.2_Intron|STXBP6_ENST00000550887.1_Intron			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)						negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		ACCAGACTCCGGCAGGGTGAG	0.532																																						ENST00000548369.1																			0				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7						c.(82-84)cCg>cTg		syntaxin binding protein 6 (amisyn)																																				SO:0001627	intron_variant	29091				vesicle-mediated transport	cytoplasm|integral to membrane		g.chr14:25288463G>A	AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952			19666	protein-coding gene	gene with protein product		607958				12145319	Standard	NM_014178		Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.452-63C>T	14.37:g.25288463G>A						STXBP6_ENST00000358326.2_Intron|STXBP6_ENST00000396700.1_Intron|STXBP6_ENST00000550887.1_Intron|STXBP6_ENST00000419632.2_Intron|STXBP6_ENST00000323944.5_Intron|STXBP6_ENST00000546511.1_Intron|STXBP6_ENST00000548724.1_Intron	p.P28L			Q8NFX7	STXB6_HUMAN		GBM - Glioblastoma multiforme(265;0.0296)	1	220	-			0					D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Missense_Mutation	SNP	ENST00000323944.5	37	c.83C>T	CCDS9634.1	.	.	.	.	.	.	.	.	.	.	g	5.865	0.343818	0.11126	.	.	ENSG00000168952	ENST00000548369	.	.	.	2.82	-5.39	0.02664	.	.	.	.	.	T	0.21590	0.0520	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.24977	-1.0145	6	.	.	.	.	8.0018	0.30301	0.0:0.111:0.6497:0.2393	.	28	Q8NFX7-3	.	L	28	.	.	P	-	2	0	STXBP6	24358303	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.750000	0.04808	-1.158000	0.02811	-1.589000	0.00846	CCG		0.532	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409166.1			17	42	0	0	0	1	0	17	42				
PRIMA1	145270	broad.mit.edu	37	14	94245529	94245529	+	Silent	SNP	G	G	A	rs145840548	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:94245529G>A	ENST00000393140.1	-	3	324	c.222C>T	c.(220-222)tcC>tcT	p.S74S	PRIMA1_ENST00000316227.3_Silent_p.S74S|PRIMA1_ENST00000393143.1_Silent_p.S74S	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	74					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		TACCTggggcggagaggagtc	0.652													g|||	4	0.000798722	0.0	0.0014	5008	,	,		4266	0.001		0.002	False		,,,				2504	0.0					ENST00000393140.1																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7						c.(220-222)tcC>tcT		proline rich membrane anchor 1				2,4334		0,2,2166	11.0	12.0	11.0		222	-9.3	0.6	14	dbSNP_134	11	41,8439		0,41,4199	no	coding-synonymous	PRIMA1	NM_178013.3		0,43,6365	AA,AG,GG		0.4835,0.0461,0.3355		74/154	94245529	43,12773	2168	4240	6408	SO:0001819	synonymous_variant	145270				neurotransmitter catabolic process	cell junction|integral to membrane|synapse		g.chr14:94245529G>A		CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"""membrane anchor of acetylcholinesterase"""	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.222C>T	14.37:g.94245529G>A						PRIMA1_ENST00000316227.3_Silent_p.S74S|PRIMA1_ENST00000393143.1_Silent_p.S74S	p.S74S	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)	3	324	-		all_cancers(154;0.127)	74					Q86XR6	Silent	SNP	ENST00000393140.1	37	c.222C>T	CCDS9912.1																																																																																				0.652	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	NM_178013		7	20	0	0	0	1	0	7	20				
DHDH	27294	broad.mit.edu	37	19	49439398	49439398	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:49439398G>A	ENST00000221403.2	+	3	352	c.312G>A	c.(310-312)gcG>gcA	p.A104A	DHDH_ENST00000523250.1_Intron|DHDH_ENST00000522614.1_Silent_p.A104A	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	104					carbohydrate metabolic process (GO:0005975)|D-xylose catabolic process (GO:0042843)		D-xylose 1-dehydrogenase (NADP+) activity (GO:0047837)|electron carrier activity (GO:0009055)|NAD(P)+ transhydrogenase activity (GO:0008746)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		TGAACGCGGCGGAAGTTCGCG	0.642																																						ENST00000221403.2																			0				central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9						c.(310-312)gcG>gcA		dihydrodiol dehydrogenase (dimeric)							22.0	24.0	23.0					19																	49439398		2200	4298	6498	SO:0001819	synonymous_variant	27294				carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr19:49439398G>A	AB021933	CCDS12741.1	19q13.3	2008-02-05			ENSG00000104808	ENSG00000104808	1.3.1.20		17887	protein-coding gene	gene with protein product		606377				10477285	Standard	NM_014475		Approved	HUM2DD	uc002ple.1	Q9UQ10	OTTHUMG00000165029	ENST00000221403.2:c.312G>A	19.37:g.49439398G>A						DHDH_ENST00000523250.1_Intron|DHDH_ENST00000522614.1_Silent_p.A104A	p.A104A	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)	3	352	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	104						Silent	SNP	ENST00000221403.2	37	c.312G>A	CCDS12741.1																																																																																				0.642	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1	NM_014475		8	19	0	0	0	1	0	8	19				
LRRN1	57633	broad.mit.edu	37	3	3887524	3887524	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:3887524C>T	ENST00000319331.3	+	2	1960	c.1199C>T	c.(1198-1200)gCc>gTc	p.A400V	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	400	LRRCT.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ATGTTCTGTGCCATGCCGCCC	0.488																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(1198-1200)gCc>gTc		leucine rich repeat neuronal 1							87.0	90.0	89.0					3																	3887524		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3887524C>T	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1199C>T	3.37:g.3887524C>T	ENSP00000314901:p.Ala400Val					SUMF1_ENST00000534863.1_Intron	p.A400V	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1960	+			400			LRRCT.		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.1199C>T	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	C	9.899	1.206360	0.22205	.	.	ENSG00000175928	ENST00000319331	T	0.59502	0.26	5.65	5.65	0.86999	Cysteine-rich flanking region, C-terminal (1);	0.152035	0.64402	D	0.000014	T	0.50752	0.1634	L	0.39085	1.19	0.48830	D	0.999719	B	0.24132	0.098	B	0.20767	0.031	T	0.39461	-0.9613	10	0.28530	T	0.3	.	19.7243	0.96157	0.0:1.0:0.0:0.0	.	400	Q6UXK5	LRRN1_HUMAN	V	400	ENSP00000314901:A400V	ENSP00000314901:A400V	A	+	2	0	LRRN1	3862524	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.861000	0.62969	2.665000	0.90641	0.650000	0.86243	GCC		0.488	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		29	101	0	0	0	1	0	29	101				
ASAP2	8853	broad.mit.edu	37	2	9347300	9347300	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:9347300G>A	ENST00000281419.3	+	1	407	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	ASAP2_ENST00000315273.4_Missense_Mutation_p.A23T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	23					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GGCGCCCACGGCCTCCAGCTT	0.716																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(67-69)Gcc>Acc		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							28.0	30.0	29.0					2																	9347300		2203	4299	6502	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9347300G>A	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.67G>A	2.37:g.9347300G>A	ENSP00000281419:p.Ala23Thr					ASAP2_ENST00000315273.4_Missense_Mutation_p.A23T	p.A23T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			1	407	+			23					D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.67G>A	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	g	12.81	2.050925	0.36181	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.54279	0.65;0.58	2.75	1.85	0.25348	.	0.149925	0.42821	U	0.000645	T	0.37571	0.1008	N	0.02802	-0.49	0.44042	D	0.996778	B;D	0.63880	0.041;0.993	B;D	0.72338	0.022;0.977	T	0.40117	-0.9580	10	0.02654	T	1	.	8.5366	0.33366	0.1248:0.0:0.8752:0.0	.	23;23	O43150-2;O43150	.;ASAP2_HUMAN	T	23	ENSP00000281419:A23T;ENSP00000316404:A23T	ENSP00000281419:A23T	A	+	1	0	ASAP2	9264751	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	1.646000	0.37249	0.480000	0.27534	0.457000	0.33378	GCC		0.716	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		14	32	0	0	0	1	0	14	32				
FRMD4A	55691	broad.mit.edu	37	10	13701455	13701455	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:13701455G>A	ENST00000357447.2	-	21	2302	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V	FRMD4A_ENST00000358621.4_Missense_Mutation_p.A630V|FRMD4A_ENST00000378503.1_Missense_Mutation_p.A645V	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	645	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.A645V(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCCGGCTTCCGCACAGCTTCC	0.657																																						ENST00000357447.2																			1	Substitution - Missense(1)	p.A645V(1)	pancreas(1)	breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1933-1935)gCg>gTg		FERM domain containing 4A							38.0	40.0	39.0					10																	13701455		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13701455G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1934C>T	10.37:g.13701455G>A	ENSP00000350032:p.Ala645Val					FRMD4A_ENST00000378503.1_Missense_Mutation_p.A645V|FRMD4A_ENST00000358621.4_Missense_Mutation_p.A630V	p.A645V	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			21	2302	-			645			Ser-rich.		A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.1934C>T	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987650	0.53934	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.83075	-1.68;-1.68;-1.68	5.52	5.52	0.82312	.	0.188607	0.44688	D	0.000421	T	0.68641	0.3023	N	0.14661	0.345	0.33841	D	0.631388	P	0.41131	0.739	B	0.25614	0.062	T	0.78685	-0.2108	10	0.52906	T	0.07	-11.4806	19.4415	0.94823	0.0:0.0:1.0:0.0	.	645	Q9P2Q2	FRM4A_HUMAN	V	630;645;645	ENSP00000351438:A630V;ENSP00000350032:A645V;ENSP00000367764:A645V	ENSP00000350032:A645V	A	-	2	0	FRMD4A	13741461	1.000000	0.71417	0.053000	0.19242	0.598000	0.36846	6.399000	0.73248	2.592000	0.87571	0.561000	0.74099	GCG		0.657	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		23	91	0	0	0	1	0	23	91				
ACER3	55331	broad.mit.edu	37	11	76687369	76687369	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:76687369A>G	ENST00000532485.1	+	4	408	c.304A>G	c.(304-306)Ata>Gta	p.I102V	ACER3_ENST00000530182.1_3'UTR|ACER3_ENST00000526597.1_Missense_Mutation_p.I7V|CTD-2547H18.1_ENST00000530190.1_RNA|ACER3_ENST00000533873.1_Missense_Mutation_p.I65V|ACER3_ENST00000538157.1_Missense_Mutation_p.I60V	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3	102					ceramide metabolic process (GO:0006672)|phytosphingosine biosynthetic process (GO:0071602)|positive regulation of cell proliferation (GO:0008284)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of Golgi membrane (GO:0030173)	phytoceramidase activity (GO:0070774)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						CAGCTGTTGCATATTTGTGTA	0.279																																						ENST00000532485.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						c.(304-306)Ata>Gta		alkaline ceramidase 3							147.0	135.0	139.0					11																	76687369		2200	4292	6492	SO:0001583	missense	55331				ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity	g.chr11:76687369A>G	AF214454	CCDS8247.1, CCDS73352.1	11q13.5	2013-01-25	2008-12-19	2008-12-19	ENSG00000078124	ENSG00000078124	3.5.1.23	"""Alkaline ceramidase"""	16066	protein-coding gene	gene with protein product	"""alkaline phytoceramidase"""		"""phytoceramidase, alkaline"""	PHCA		11356846, 18619555	Standard	XM_005274090		Approved	FLJ11238, APHC	uc009yum.1	Q9NUN7	OTTHUMG00000165225	ENST00000532485.1:c.304A>G	11.37:g.76687369A>G	ENSP00000434480:p.Ile102Val					ACER3_ENST00000526597.1_Missense_Mutation_p.I7V|ACER3_ENST00000533873.1_Missense_Mutation_p.I65V|CTD-2547H18.1_ENST00000530190.1_RNA|ACER3_ENST00000538157.1_Missense_Mutation_p.I60V|ACER3_ENST00000530182.1_3'UTR	p.I102V	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN			4	408	+			102					B2RC99	Missense_Mutation	SNP	ENST00000532485.1	37	c.304A>G	CCDS8247.1	.	.	.	.	.	.	.	.	.	.	A	3.685	-0.064715	0.07273	.	.	ENSG00000078124	ENST00000534206;ENST00000532485;ENST00000526597;ENST00000533873;ENST00000538157;ENST00000530243	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.93	3.81	0.43845	.	0.127279	0.51477	N	0.000095	T	0.21590	0.0520	N	0.13140	0.3	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.05616	-1.0874	10	0.15066	T	0.55	-12.4505	7.3358	0.26609	0.902:0.0:0.098:0.0	.	65;102	B7Z2Q2;Q9NUN7	.;ACER3_HUMAN	V	60;102;7;65;60;60	ENSP00000435733:I60V;ENSP00000434480:I102V;ENSP00000431149:I7V;ENSP00000436252:I65V;ENSP00000440916:I60V	ENSP00000431149:I7V	I	+	1	0	ACER3	76365017	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.893000	0.39758	1.031000	0.39867	0.455000	0.32223	ATA		0.279	ACER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382770.2	NM_018367		8	30	0	0	0	1	0	8	30				
MAML2	84441	broad.mit.edu	37	11	95718778	95718778	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:95718778T>C	ENST00000524717.1	-	4	3656	c.2372A>G	c.(2371-2373)aAc>aGc	p.N791S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	791					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CAAATGTCGGTTTATCTGATC	0.348			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"""MECT1, CRTC3"""		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2371-2373)aAc>aGc		mastermind-like 2 (Drosophila)							144.0	127.0	132.0					11																	95718778		1827	4090	5917	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95718778T>C	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2372A>G	11.37:g.95718778T>C	ENSP00000434552:p.Asn791Ser						p.N791S	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			4	3656	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	791					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.2372A>G	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.776358	0.49786	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.42900	0.96;0.96	5.17	4.04	0.47022	.	0.074218	0.56097	D	0.000039	T	0.26593	0.0650	N	0.19112	0.55	0.32281	N	0.567529	P	0.36909	0.573	B	0.40982	0.345	T	0.26018	-1.0115	10	0.10902	T	0.67	-19.5981	8.0784	0.30731	0.0:0.1558:0.0:0.8442	.	791	Q8IZL2	MAML2_HUMAN	S	791	ENSP00000434552:N791S;ENSP00000412394:N791S	ENSP00000412394:N791S	N	-	2	0	MAML2	95358426	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.207000	0.42788	0.936000	0.37367	0.459000	0.35465	AAC		0.348	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			4	23	0	0	0	1	0	4	23				
ZNF334	55713	broad.mit.edu	37	20	45130425	45130425	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:45130425T>G	ENST00000347606.4	-	5	1735	c.1553A>C	c.(1552-1554)gAg>gCg	p.E518A	ZNF334_ENST00000457685.2_Missense_Mutation_p.E480A|ZNF334_ENST00000593880.1_Missense_Mutation_p.E541A	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	518					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTCACTACACTCATAAAGATT	0.403																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1438-1440)gAg>gCg		zinc finger protein 334							211.0	196.0	201.0					20																	45130425		2203	4300	6503	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130425T>G	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1553A>C	20.37:g.45130425T>G	ENSP00000255129:p.Glu518Ala					ZNF334_ENST00000347606.4_Missense_Mutation_p.E518A|ZNF334_ENST00000593880.1_Missense_Mutation_p.E541A	p.E480A			Q9HCZ1	ZN334_HUMAN			6	2762	-		Myeloproliferative disorder(115;0.0122)	518					Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.1439A>C	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	T	6.497	0.459873	0.12342	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.42131	0.98;0.98	3.45	2.31	0.28768	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29491	0.0735	L	0.39467	1.215	0.09310	N	1	B;B;B	0.25667	0.131;0.131;0.131	B;B;B	0.19666	0.026;0.026;0.026	T	0.21586	-1.0241	9	0.44086	T	0.13	.	4.1722	0.10334	0.207:0.0:0.2142:0.5788	.	480;518;541	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	A	480;518	ENSP00000402582:E480A;ENSP00000255129:E518A	ENSP00000255129:E518A	E	-	2	0	ZNF334	44563832	0.000000	0.05858	0.004000	0.12327	0.011000	0.07611	-0.444000	0.06854	0.489000	0.27749	0.482000	0.46254	GAG		0.403	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			11	237	0	0	0	1	0	11	237				
SLFN11	91607	broad.mit.edu	37	17	33679526	33679526	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:33679526T>C	ENST00000394566.1	-	7	2827	c.2555A>G	c.(2554-2556)gAc>gGc	p.D852G	SLFN11_ENST00000308377.4_Missense_Mutation_p.D852G	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	852					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCGAACACTGTCCAACACAAT	0.478																																						ENST00000394566.1																			0				autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(2554-2556)gAc>gGc		schlafen family member 11							276.0	238.0	251.0					17																	33679526		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33679526T>C	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2555A>G	17.37:g.33679526T>C	ENSP00000378067:p.Asp852Gly					SLFN11_ENST00000308377.4_Missense_Mutation_p.D852G	p.D852G	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	2827	-		Ovarian(249;0.17)	852					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.2555A>G	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	t	15.52	2.858402	0.51376	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.80393	-1.37;-1.37	4.0	4.0	0.46444	.	0.134588	0.33875	N	0.004466	D	0.83519	0.5272	M	0.83118	2.625	0.29658	N	0.843461	P	0.49862	0.929	P	0.48598	0.583	T	0.82564	-0.0394	10	0.87932	D	0	.	9.4902	0.38955	0.0:0.0:0.0:1.0	.	852	Q7Z7L1	SLN11_HUMAN	G	852	ENSP00000312402:D852G;ENSP00000378067:D852G	ENSP00000312402:D852G	D	-	2	0	SLFN11	30703639	1.000000	0.71417	0.850000	0.33497	0.434000	0.31775	4.891000	0.63185	1.799000	0.52666	0.533000	0.62120	GAC		0.478	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		54	184	0	0	0	1	0	54	184				
NRXN3	9369	broad.mit.edu	37	14	80163993	80163993	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:80163993A>G	ENST00000557594.1	+	4	1575	c.622A>G	c.(622-624)Aac>Gac	p.N208D	NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000554719.1_Missense_Mutation_p.N840D|NRXN3_ENST00000281127.7_Missense_Mutation_p.N208D|NRXN3_ENST00000428277.2_Missense_Mutation_p.N238D|NRXN3_ENST00000335750.5_Missense_Mutation_p.N840D|RP11-242P2.1_ENST00000553322.1_RNA	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	208	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AACCATCTTCAACACTCAGGC	0.468																																						ENST00000281127.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(622-624)Aac>Gac		neurexin 3							70.0	67.0	68.0					14																	80163993		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:80163993A>G	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.622A>G	14.37:g.80163993A>G	ENSP00000451672:p.Asn208Asp					NRXN3_ENST00000428277.2_Missense_Mutation_p.N238D|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000335750.5_Missense_Mutation_p.N840D|NRXN3_ENST00000554719.1_Missense_Mutation_p.N840D|NRXN3_ENST00000557594.1_Missense_Mutation_p.N208D|RP11-242P2.1_ENST00000553322.1_RNA	p.N208D	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	1501	+		Renal(4;0.00876)	208			Laminin G-like.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.622A>G		.	.	.	.	.	.	.	.	.	.	A	23.6	4.430534	0.83776	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.78481	-1.18;-1.18;1.04;1.04;1.04	5.61	5.61	0.85477	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.89058	0.6607	M	0.86028	2.79	0.58432	D	0.999997	D;D;D;P	0.76494	0.999;0.994;0.995;0.83	D;D;D;P	0.83275	0.996;0.973;0.995;0.71	D	0.90172	0.4236	9	.	.	.	.	15.7963	0.78412	1.0:0.0:0.0:0.0	.	238;208;208;840	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	D	1213;1232;840;840;208;208;238	ENSP00000451648:N840D;ENSP00000338349:N840D;ENSP00000451672:N208D;ENSP00000281127:N208D;ENSP00000394426:N238D	.	N	+	1	0	NRXN3	79233746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.137000	0.66172	0.460000	0.39030	AAC		0.468	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		8	81	0	0	0	1	0	8	81				
SEMA7A	8482	broad.mit.edu	37	15	74704350	74704350	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:74704350C>A	ENST00000261918.4	-	11	1846	c.1298G>T	c.(1297-1299)aGg>aTg	p.R433M	SEMA7A_ENST00000543145.2_Missense_Mutation_p.R419M|SEMA7A_ENST00000542748.1_Missense_Mutation_p.R268M	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	433	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GATAGTGCCCCTGTCTGTGTA	0.637																																						ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(1297-1299)aGg>aTg		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)							83.0	57.0	66.0					15																	74704350		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74704350C>A	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1298G>T	15.37:g.74704350C>A	ENSP00000261918:p.Arg433Met					SEMA7A_ENST00000543145.2_Missense_Mutation_p.R419M|SEMA7A_ENST00000542748.1_Missense_Mutation_p.R268M	p.R433M	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			11	1846	-			433			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.1298G>T	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470034	0.43839	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.11604	2.76;2.76;2.76	4.5	-2.08	0.07254	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.620414	0.16143	N	0.227632	T	0.10895	0.0266	L	0.27053	0.805	0.39395	D	0.966483	P;P	0.41366	0.702;0.747	P;P	0.49361	0.473;0.608	T	0.14811	-1.0459	10	0.45353	T	0.12	-14.5238	9.7774	0.40628	0.0:0.3406:0.0:0.6594	.	419;433	F5H1S0;O75326	.;SEM7A_HUMAN	M	433;419;268	ENSP00000261918:R433M;ENSP00000438966:R419M;ENSP00000441493:R268M	ENSP00000261918:R433M	R	-	2	0	SEMA7A	72491403	0.980000	0.34600	0.994000	0.49952	0.452000	0.32318	-0.035000	0.12205	-0.271000	0.09272	-0.424000	0.05967	AGG		0.637	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		13	73	1	0	4.36969e-10	1	4.52622e-10	13	73				
MSANTD2	79684	broad.mit.edu	37	11	124637523	124637523	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:124637523T>C	ENST00000374979.3	-	4	1237	c.1229A>G	c.(1228-1230)tAt>tGt	p.Y410C	MSANTD2_ENST00000524950.1_3'UTR|MSANTD2_ENST00000526629.1_Missense_Mutation_p.Y180C|RP11-677M14.3_ENST00000532579.1_RNA|MSANTD2_ENST00000239614.4_Missense_Mutation_p.Y358C|RP11-677M14.3_ENST00000504932.2_RNA			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2	410																	AGGCAATAAATATTGAACAAC	0.473																																						ENST00000526629.1																			0											c.(538-540)tAt>tGt		Myb/SANT-like DNA-binding domain containing 2							55.0	57.0	57.0					11																	124637523		2201	4299	6500	SO:0001583	missense	79684							g.chr11:124637523T>C	AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 61"""	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931	ENST00000374979.3:c.1229A>G	11.37:g.124637523T>C	ENSP00000364118:p.Tyr410Cys					MSANTD2_ENST00000374979.3_Missense_Mutation_p.Y410C|MSANTD2_ENST00000239614.4_Missense_Mutation_p.Y358C|MSANTD2_ENST00000524950.1_3'UTR	p.Y180C			Q6P1R3	CK061_HUMAN			3	1986	-			410					B3KRY6|Q9H042|Q9H5K8	Missense_Mutation	SNP	ENST00000374979.3	37	c.539A>G		.	.	.	.	.	.	.	.	.	.	T	18.53	3.644700	0.67358	.	.	ENSG00000120458	ENST00000239614;ENST00000374979;ENST00000526629	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.68247	0.2980	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.71217	-0.4658	9	0.87932	D	0	-8.837	16.6512	0.85203	0.0:0.0:0.0:1.0	.	410;358	Q6P1R3;Q6P1R3-3	CK061_HUMAN;.	C	358;410;180	.	ENSP00000239614:Y358C	Y	-	2	0	C11orf61	124142733	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.608000	0.82898	2.333000	0.79357	0.482000	0.46254	TAT		0.473	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000387084.1	NM_024631		5	98	0	0	0	1	0	5	98				
SLC5A2	6524	broad.mit.edu	37	16	31501677	31501677	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:31501677T>C	ENST00000330498.3	+	14	1859	c.1840T>C	c.(1840-1842)Ttt>Ctt	p.F614L	C16orf58_ENST00000567994.1_3'UTR|C16orf58_ENST00000327237.2_3'UTR|SLC5A2_ENST00000564197.1_Intron|AC026471.6_ENST00000565137.1_RNA|C16orf58_ENST00000570164.1_3'UTR	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	614					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CCTGCTCTGGTTTTGTGGAAT	0.652																																						ENST00000330498.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(1840-1842)Ttt>Ctt		solute carrier family 5 (sodium/glucose cotransporter), member 2							21.0	24.0	23.0					16																	31501677		2197	4300	6497	SO:0001583	missense	6524				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	g.chr16:31501677T>C		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1840T>C	16.37:g.31501677T>C	ENSP00000327943:p.Phe614Leu					C16orf58_ENST00000327237.2_3'UTR|C16orf58_ENST00000567994.1_3'UTR|C16orf58_ENST00000570164.1_3'UTR|SLC5A2_ENST00000564197.1_Intron	p.F614L	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN			14	1859	+			614					A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	c.1840T>C	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326101	0.41197	.	.	ENSG00000140675	ENST00000330498	D	0.91843	-2.92	5.22	5.22	0.72569	.	0.069762	0.64402	D	0.000012	D	0.87297	0.6142	L	0.39633	1.23	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.82550	-0.0401	10	0.20046	T	0.44	.	13.0545	0.58971	0.0:0.0:0.0:1.0	.	614	P31639	SC5A2_HUMAN	L	614	ENSP00000327943:F614L	ENSP00000327943:F614L	F	+	1	0	SLC5A2	31409178	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.771000	0.38542	1.971000	0.57363	0.459000	0.35465	TTT		0.652	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			3	22	0	0	0	1	0	3	22				
PDXDC2P	283970	broad.mit.edu	37	16	70010595	70010595	+	RNA	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:70010595A>G	ENST00000531894.1	-	0	3788				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										CCAGTAGGGCAATCCTGAAGA	0.483																																						ENST00000532298.1																			0				breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						c.(682-684)tTg>tCg																																								283970							g.chr16:70010595A>G			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70010595A>G						PDXDC2P_ENST00000531894.1_RNA	p.L228S							7	682	-								A8K9Z5	Missense_Mutation	SNP	ENST00000531894.1	37	c.683T>C		.	.	.	.	.	.	.	.	.	.	.	7.858	0.725398	0.15439	.	.	ENSG00000226232	ENST00000532298	T	0.61274	0.12	.	.	.	.	.	.	.	.	T	0.54615	0.1869	.	.	.	.	.	.	.	.	.	.	.	.	T	0.59789	-0.7388	3	0.87932	D	0	.	.	.	.	.	.	.	.	S	228	ENSP00000448651:L228S	ENSP00000448651:L228S	L	-	2	0	RP11-419C5.2	68568096	0.003000	0.15002	0.002000	0.10522	0.019000	0.09904	-0.144000	0.10280	-0.455000	0.07054	0.092000	0.15492	TTG		0.483	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			15	66	0	0	0	1	0	15	66				
SLC29A1	2030	broad.mit.edu	37	6	44197128	44197128	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:44197128T>C	ENST00000393841.1	+	4	522	c.31T>C	c.(31-33)Tac>Cac	p.Y11H	SLC29A1_ENST00000313248.7_Splice_Site_p.Y90H|SLC29A1_ENST00000371755.3_Splice_Site_p.Y11H|SLC29A1_ENST00000371731.1_Splice_Site_p.Y11H|SLC29A1_ENST00000427851.2_Splice_Site_p.Y11H|SLC29A1_ENST00000371740.5_Splice_Site_p.Y11H|SLC29A1_ENST00000393844.1_Splice_Site_p.Y11H|SLC29A1_ENST00000371724.1_Splice_Site_p.Y11H|SLC29A1_ENST00000371708.1_Splice_Site_p.Y11H|SLC29A1_ENST00000371713.1_Splice_Site_p.Y11H	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	11					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	CCATTGCAGATACAAAGCTGT	0.557																																						ENST00000393841.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17						c.e4-1		solute carrier family 29 (equilibrative nucleoside transporter), member 1	Troglitazone(DB00197)						232.0	208.0	216.0					6																	44197128		2203	4300	6503	SO:0001630	splice_region_variant	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44197128T>C	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.30-1T>C	6.37:g.44197128T>C						SLC29A1_ENST00000371755.3_Splice_Site_p.Y11_splice|SLC29A1_ENST00000393844.1_Splice_Site_p.Y11_splice|SLC29A1_ENST00000371724.1_Splice_Site_p.Y11_splice|SLC29A1_ENST00000371740.5_Splice_Site_p.Y11_splice|SLC29A1_ENST00000371713.1_Splice_Site_p.Y11_splice|SLC29A1_ENST00000371731.1_Splice_Site_p.Y11_splice|SLC29A1_ENST00000371708.1_Splice_Site_p.Y11_splice|SLC29A1_ENST00000313248.7_Splice_Site_p.Y90_splice|SLC29A1_ENST00000427851.2_Splice_Site_p.Y11_splice	p.Y11_splice	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	522	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		11					B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Splice_Site	SNP	ENST00000393841.1	37	c.29_splice	CCDS4908.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.142209	0.77775	.	.	ENSG00000112759	ENST00000544345;ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.80304	-0.03;-1.36;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.90954	0.7156	H	0.94222	3.51	0.49299	D	0.999771	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	D	0.93163	0.6559	10	0.66056	D	0.02	-2.918	13.8802	0.63678	0.0:0.0:0.0:1.0	.	11;30;90;11	B7Z1J8;B7Z914;B3KQV7;Q99808	.;.;.;S29A1_HUMAN	H	30;11;90;11;11;11;11;11;11;11;11	ENSP00000377427:Y11H;ENSP00000319152:Y90H;ENSP00000392668:Y11H;ENSP00000360820:Y11H;ENSP00000360805:Y11H;ENSP00000360796:Y11H;ENSP00000377424:Y11H;ENSP00000360789:Y11H;ENSP00000360778:Y11H;ENSP00000360773:Y11H	ENSP00000319152:Y90H	Y	+	1	0	SLC29A1	44305106	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	5.535000	0.67173	2.031000	0.59945	0.379000	0.24179	TAC		0.557	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1		Missense_Mutation	26	81	0	0	0	1	0	26	81				
ZNF845	91664	broad.mit.edu	37	19	53855647	53855647	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:53855647T>C	ENST00000595091.1	+	5	1938	c.1719T>C	c.(1717-1719)caT>caC	p.H573H	ZNF845_ENST00000458035.1_Silent_p.H573H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	573					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(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAGCAATCCATGGTATAGGGA	0.398																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1717-1719)caT>caC		zinc finger protein 845							82.0	71.0	74.0					19																	53855647		692	1591	2283	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855647T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1719T>C	19.37:g.53855647T>C						ZNF845_ENST00000595091.1_Silent_p.H573H	p.H573H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1836	+			573						Silent	SNP	ENST00000595091.1	37	c.1719T>C	CCDS46170.1																																																																																				0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		18	66	0	0	0	1	0	18	66				
CLDND1	56650	broad.mit.edu	37	3	98240028	98240028	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:98240028A>G	ENST00000503004.1	-	2	1120	c.241T>C	c.(241-243)Tgt>Cgt	p.C81R	CLDND1_ENST00000341181.6_Missense_Mutation_p.C81R|CLDND1_ENST00000394181.2_Missense_Mutation_p.C81R|CLDND1_ENST00000513287.1_Missense_Mutation_p.C81R|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000394180.2_Missense_Mutation_p.C81R|CLDND1_ENST00000394185.2_Missense_Mutation_p.C81R|RP11-227H4.5_ENST00000502999.1_RNA|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000507874.1_Missense_Mutation_p.C81R|CLDND1_ENST00000510545.1_Missense_Mutation_p.C81R|CLDND1_ENST00000437922.1_Missense_Mutation_p.C104R|CLDND1_ENST00000511081.1_Intron			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	81						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						ATGGTGATACACCGTCTCCAC	0.383																																						ENST00000503004.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						c.(241-243)Tgt>Cgt		claudin domain containing 1							187.0	169.0	175.0					3																	98240028		2203	4300	6503	SO:0001583	missense	56650					integral to membrane		g.chr3:98240028A>G	AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 4"""	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.241T>C	3.37:g.98240028A>G	ENSP00000421226:p.Cys81Arg					CLDND1_ENST00000507874.1_Missense_Mutation_p.C81R|CLDND1_ENST00000510545.1_Missense_Mutation_p.C81R|CLDND1_ENST00000511081.1_Intron|CLDND1_ENST00000513287.1_Missense_Mutation_p.C81R|CLDND1_ENST00000394181.2_Missense_Mutation_p.C81R|CLDND1_ENST00000394185.2_Missense_Mutation_p.C81R|CLDND1_ENST00000394180.2_Missense_Mutation_p.C81R|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000437922.1_Missense_Mutation_p.C104R|CLDND1_ENST00000341181.6_Missense_Mutation_p.C81R	p.C81R			Q9NY35	CLDN1_HUMAN			2	1120	-			81					B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	ENST00000503004.1	37	c.241T>C	CCDS2930.1	.	.	.	.	.	.	.	.	.	.	A	19.76	3.887040	0.72410	.	.	ENSG00000080822	ENST00000507874;ENST00000341181;ENST00000437922;ENST00000394180;ENST00000506885;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000510545;ENST00000513287;ENST00000511667;ENST00000513452;ENST00000502299;ENST00000508902;ENST00000514537;ENST00000515620;ENST00000507944;ENST00000508659;ENST00000503621;ENST00000508071;ENST00000513130;ENST00000506575	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.85230	0.5649	M	0.77313	2.365	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.87578	0.998;0.998;0.994	D	0.87087	0.2170	10	0.87932	D	0	-15.319	12.4812	0.55844	1.0:0.0:0.0:0.0	.	81;81;81	D6RCR8;Q9NY35;Q9NY35-2	.;CLDN1_HUMAN;.	R	81;81;104;81;34;81;81;81;81;81;59;81;81;81;81;81;81;81;59;81;81;81	ENSP00000422428:C81R;ENSP00000340247:C81R;ENSP00000388457:C104R;ENSP00000377734:C81R;ENSP00000422116:C34R;ENSP00000421226:C81R;ENSP00000377739:C81R;ENSP00000377735:C81R;ENSP00000423590:C81R;ENSP00000426869:C81R;ENSP00000423732:C59R;ENSP00000425539:C81R;ENSP00000420913:C81R;ENSP00000421413:C81R;ENSP00000423151:C81R;ENSP00000423093:C81R;ENSP00000425204:C81R;ENSP00000427658:C81R	ENSP00000340247:C81R	C	-	1	0	CLDND1	99722718	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.316000	0.89985	1.831000	0.53308	0.533000	0.62120	TGT		0.383	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	NM_019895		6	145	0	0	0	1	0	6	145				
IFIT5	24138	broad.mit.edu	37	10	91178053	91178053	+	Missense_Mutation	SNP	G	G	A	rs575185602		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:91178053G>A	ENST00000371795.4	+	2	1310	c.1097G>A	c.(1096-1098)cGt>cAt	p.R366H	IFIT5_ENST00000416601.1_Missense_Mutation_p.R318H	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	366					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						AAAGCTCTTCGTCTGGAGAAC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		20672	0.0		0.0	False		,,,				2504	0.001					ENST00000371795.4																			0				endometrium(1)|large_intestine(4)|lung(4)	9						c.(1096-1098)cGt>cAt		interferon-induced protein with tetratricopeptide repeats 5							73.0	66.0	69.0					10																	91178053		2203	4300	6503	SO:0001583	missense	24138						binding	g.chr10:91178053G>A	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.1097G>A	10.37:g.91178053G>A	ENSP00000360860:p.Arg366His					IFIT5_ENST00000416601.1_Missense_Mutation_p.R318H	p.R366H	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN			2	1310	+			366					B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	ENST00000371795.4	37	c.1097G>A	CCDS7403.1	.	.	.	.	.	.	.	.	.	.	G	4.198	0.035467	0.08148	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	T;T	0.60920	0.15;0.15	5.8	-3.27	0.05048	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.971544	0.08553	N	0.928664	T	0.31136	0.0787	N	0.11560	0.145	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.13737	-1.0498	10	0.46703	T	0.11	1.8216	3.8995	0.09154	0.5326:0.107:0.252:0.1084	.	366;318	Q13325;B4DDV1	IFIT5_HUMAN;.	H	366;318	ENSP00000360860:R366H;ENSP00000414042:R318H	ENSP00000360860:R366H	R	+	2	0	IFIT5	91168033	0.000000	0.05858	0.038000	0.18304	0.130000	0.20726	-0.983000	0.03759	-0.617000	0.05664	0.655000	0.94253	CGT		0.453	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420		24	81	0	0	0	1	0	24	81				
CCND2	894	broad.mit.edu	37	12	4398026	4398026	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:4398026A>G	ENST00000261254.3	+	4	859	c.590A>G	c.(589-591)tAc>tGc	p.Y197C		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	197					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			TTTGCCATGTACCCACCGTCG	0.542			T	IGL@	"""NHL,CLL"""																																	ENST00000261254.3				Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		"""NHL,CLL"""		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(589-591)tAc>tGc		cyclin D2							187.0	167.0	173.0					12																	4398026		2203	4300	6503	SO:0001583	missense	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4398026A>G	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.590A>G	12.37:g.4398026A>G	ENSP00000261254:p.Tyr197Cys						p.Y197C	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		4	859	+			197					A8K531|Q13955|Q5U035	Missense_Mutation	SNP	ENST00000261254.3	37	c.590A>G	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981262	0.74474	.	.	ENSG00000118971	ENST00000261254	T	0.28454	1.61	5.4	5.4	0.78164	Cyclin, C-terminal (1);Cyclin-like (2);	0.053183	0.85682	D	0.000000	T	0.58352	0.2116	M	0.84948	2.725	0.80722	D	1	D	0.71674	0.998	D	0.65773	0.938	T	0.65134	-0.6242	10	0.62326	D	0.03	.	14.9121	0.70767	1.0:0.0:0.0:0.0	.	197	P30279	CCND2_HUMAN	C	197	ENSP00000261254:Y197C	ENSP00000261254:Y197C	Y	+	2	0	CCND2	4268287	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.910000	0.92685	2.179000	0.69175	0.533000	0.62120	TAC		0.542	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		50	201	0	0	0	1	0	50	201				
ALPK1	80216	broad.mit.edu	37	4	113348757	113348757	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:113348757A>T	ENST00000458497.1	+	9	1010	c.731A>T	c.(730-732)gAc>gTc	p.D244V	ALPK1_ENST00000177648.9_Missense_Mutation_p.D244V|ALPK1_ENST00000504176.2_Missense_Mutation_p.D166V	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	244							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		ATACTGGCAGACATCTTTGTT	0.398																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(730-732)gAc>gTc		alpha-kinase 1							114.0	110.0	111.0					4																	113348757		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113348757A>T	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.731A>T	4.37:g.113348757A>T	ENSP00000398048:p.Asp244Val					ALPK1_ENST00000504176.2_Missense_Mutation_p.D166V|ALPK1_ENST00000177648.9_Missense_Mutation_p.D244V	p.D244V	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	9	1010	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	244					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.731A>T	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535635	0.85812	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.30714	1.52;1.52;1.52	5.28	5.28	0.74379	.	0.054693	0.64402	D	0.000001	T	0.56202	0.1969	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.992;0.982	T	0.61598	-0.7030	10	0.87932	D	0	-26.7581	15.2145	0.73254	1.0:0.0:0.0:0.0	.	166;166;244	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	V	244;244;166	ENSP00000398048:D244V;ENSP00000177648:D244V;ENSP00000426044:D166V	ENSP00000177648:D244V	D	+	2	0	ALPK1	113568206	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.136000	0.71703	1.993000	0.58246	0.460000	0.39030	GAC		0.398	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		19	46	0	0	0	1	0	19	46				
C17orf53	78995	broad.mit.edu	37	17	42232288	42232288	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:42232288A>G	ENST00000319977.4	+	7	1866	c.1629A>G	c.(1627-1629)tcA>tcG	p.S543S	C17orf53_ENST00000585683.1_Silent_p.S542S|C17orf53_ENST00000245382.6_Silent_p.S467S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	543										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGCCTGGCTCAGTGCTGCTGC	0.597																																						ENST00000319977.4																			0				NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(1627-1629)tcA>tcG		chromosome 17 open reading frame 53							70.0	60.0	63.0					17																	42232288		2203	4300	6503	SO:0001819	synonymous_variant	78995							g.chr17:42232288A>G	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.1629A>G	17.37:g.42232288A>G						C17orf53_ENST00000585683.1_Silent_p.S542S|C17orf53_ENST00000245382.6_Silent_p.S467S	p.S543S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	7	1866	+		Breast(137;0.0364)|Prostate(33;0.0376)	543					A8K7A9|Q9BWM9|Q9HAI1	Silent	SNP	ENST00000319977.4	37	c.1629A>G	CCDS11477.1																																																																																				0.597	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		8	30	0	0	0	1	0	8	30				
MAGEE1	57692	broad.mit.edu	37	X	75649387	75649387	+	Missense_Mutation	SNP	C	C	T	rs370252414		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:75649387C>T	ENST00000361470.2	+	1	1342	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	355	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCAAGCACTTCCGTACTGCCA	0.692																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(1063-1065)tCc>tTc		melanoma antigen family E, 1							37.0	32.0	34.0					X																	75649387		2203	4299	6502	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649387C>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1064C>T	X.37:g.75649387C>T	ENSP00000354912:p.Ser355Phe						p.S355F	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	1342	+			355			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.1064C>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291756	0.40594	.	.	ENSG00000198934	ENST00000361470	T	0.16324	2.35	0.969	-0.16	0.13375	.	.	.	.	.	T	0.07548	0.0190	N	0.19112	0.55	0.09310	N	1	P	0.40144	0.704	B	0.23419	0.046	T	0.22800	-1.0206	9	0.87932	D	0	.	6.2276	0.20716	0.0:0.6857:0.3143:0.0	.	355	Q9HCI5	MAGE1_HUMAN	F	355	ENSP00000354912:S355F	ENSP00000354912:S355F	S	+	2	0	MAGEE1	75565791	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.536000	0.06135	-0.122000	0.11766	0.422000	0.28245	TCC		0.692	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		13	18	0	0	0	1	0	13	18				
KCNJ3	3760	broad.mit.edu	37	2	155711673	155711673	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:155711673G>A	ENST00000295101.2	+	3	1831	c.1354G>A	c.(1354-1356)Gta>Ata	p.V452I		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	452					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGAAAAACTGGTATCTAAAAC	0.453																																						ENST00000295101.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(1354-1356)Gta>Ata		potassium inwardly-rectifying channel, subfamily J, member 3	Halothane(DB01159)						52.0	55.0	54.0					2																	155711673		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711673G>A	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1354G>A	2.37:g.155711673G>A	ENSP00000295101:p.Val452Ile						p.V452I	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN			3	1831	+			452					B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.1354G>A	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581956	0.46006	.	.	ENSG00000162989	ENST00000295101	D	0.88431	-2.38	5.95	5.95	0.96441	.	0.485483	0.21745	N	0.069766	D	0.82568	0.5065	N	0.14661	0.345	0.80722	D	1	B	0.15141	0.012	B	0.12156	0.007	T	0.75682	-0.3233	10	0.45353	T	0.12	.	19.3906	0.94581	0.0:0.0:1.0:0.0	.	452	P48549	IRK3_HUMAN	I	452	ENSP00000295101:V452I	ENSP00000295101:V452I	V	+	1	0	KCNJ3	155419919	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.523000	0.67099	2.827000	0.97445	0.650000	0.86243	GTA		0.453	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		24	69	0	0	0	1	0	24	69				
KALRN	8997	broad.mit.edu	37	3	124053293	124053293	+	Missense_Mutation	SNP	G	G	A	rs559509346		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:124053293G>A	ENST00000240874.3	+	9	1749	c.1592G>A	c.(1591-1593)cGg>cAg	p.R531Q	KALRN_ENST00000460856.1_Missense_Mutation_p.R531Q|KALRN_ENST00000360013.3_Missense_Mutation_p.R531Q	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	531					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CGCAAGGTGCGGCTCCACCAG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		17707	0.0		0.0	False		,,,				2504	0.001					ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1591-1593)cGg>cAg		kalirin, RhoGEF kinase							32.0	35.0	34.0					3																	124053293		2203	4299	6502	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124053293G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1592G>A	3.37:g.124053293G>A	ENSP00000240874:p.Arg531Gln					KALRN_ENST00000460856.1_Missense_Mutation_p.R531Q|KALRN_ENST00000240874.3_Missense_Mutation_p.R531Q	p.R531Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			9	1719	+			531					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1592G>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.691119|5.691119	0.96793|0.96793	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013;ENST00000439170	.|T;T;T;T	.|0.43688	.|0.94;0.94;0.94;0.94	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.63082|0.63082	0.2481|0.2481	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.997;1.0	.|D;D;D	.|0.76071	.|0.97;0.968;0.987	T|T	0.62096|0.62096	-0.6926|-0.6926	5|10	.|0.48119	.|T	.|0.1	.|.	18.7978|18.7978	0.92003|0.92003	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|531;531;531	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	S|Q	509|531;531;531;7	.|ENSP00000418611:R531Q;ENSP00000240874:R531Q;ENSP00000353109:R531Q;ENSP00000402950:R7Q	.|ENSP00000240874:R531Q	G|R	+|+	1|2	0|0	KALRN|KALRN	125535983|125535983	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.657000|9.657000	0.98554|0.98554	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.607	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		20	68	0	0	0	1	0	20	68				
VAPB	9217	broad.mit.edu	37	20	56993282	56993282	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:56993282T>C	ENST00000475243.1	+	2	412	c.74T>C	c.(73-75)gTt>gCt	p.V25A	VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Missense_Mutation_p.V25A	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	25	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			TTCACCGATGTTGTCACCACC	0.463																																						ENST00000475243.1																			0				kidney(2)|lung(3)|prostate(1)	6						c.(73-75)gTt>gCt		VAMP (vesicle-associated membrane protein)-associated protein B and C							157.0	140.0	146.0					20																	56993282		2203	4300	6503	SO:0001583	missense	9217				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity	g.chr20:56993282T>C	AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.74T>C	20.37:g.56993282T>C	ENSP00000417175:p.Val25Ala					VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Missense_Mutation_p.V25A	p.V25A	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)		2	412	+	Lung NSC(12;0.000615)|all_lung(29;0.00186)		25			MSP.		A2A2F2|O95293|Q9P0H0	Missense_Mutation	SNP	ENST00000475243.1	37	c.74T>C	CCDS33498.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.468718	0.63625	.	.	ENSG00000124164	ENST00000475243;ENST00000395802	T;T	0.71461	-0.57;-0.57	6.16	6.16	0.99307	PapD-like (2);	0.000000	0.85682	D	0.000000	D	0.84406	0.5465	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.99;0.998	D	0.84328	0.0520	10	0.44086	T	0.13	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	25;25	O95292-2;O95292	.;VAPB_HUMAN	A	25	ENSP00000417175:V25A;ENSP00000379147:V25A	ENSP00000379147:V25A	V	+	2	0	VAPB	56426688	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	GTT		0.463	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079875.2			8	161	0	0	0	1	0	8	161				
ABCA13	154664	broad.mit.edu	37	7	48317939	48317939	+	Missense_Mutation	SNP	T	T	C	rs200243325	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:48317939T>C	ENST00000435803.1	+	18	7172	c.7148T>C	c.(7147-7149)aTa>aCa	p.I2383T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2383					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAAAATAATATAGACTTTTTC	0.348																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7147-7149)aTa>aCa		ATP-binding cassette, sub-family A (ABC1), member 13							33.0	33.0	33.0					7																	48317939		1810	4068	5878	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48317939T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7148T>C	7.37:g.48317939T>C	ENSP00000411096:p.Ile2383Thr						p.I2383T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	7172	+			2383					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7148T>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	8.309	0.821587	0.16678	.	.	ENSG00000179869	ENST00000435803	T	0.52983	0.64	4.57	-9.07	0.00724	.	1.942520	0.03129	N	0.164925	T	0.30417	0.0764	L	0.36672	1.1	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.20472	-1.0274	10	0.66056	D	0.02	.	2.2024	0.03927	0.2193:0.38:0.1118:0.2888	.	2383	Q86UQ4	ABCAD_HUMAN	T	2383	ENSP00000411096:I2383T	ENSP00000411096:I2383T	I	+	2	0	ABCA13	48288485	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.467000	0.02352	-1.802000	0.01244	-1.047000	0.02352	ATA		0.348	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		8	22	0	0	0	1	0	8	22				
TRRAP	8295	broad.mit.edu	37	7	98574264	98574264	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:98574264A>G	ENST00000359863.4	+	54	8306	c.8097A>G	c.(8095-8097)acA>acG	p.T2699T	TRRAP_ENST00000446306.3_Silent_p.T2681T|TRRAP_ENST00000355540.3_Silent_p.T2681T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2699					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGGGAAGACACACAACCTCT	0.557																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(8095-8097)acA>acG		transformation/transcription domain-associated protein							72.0	69.0	70.0					7																	98574264		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98574264A>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8097A>G	7.37:g.98574264A>G						TRRAP_ENST00000355540.3_Silent_p.T2681T|TRRAP_ENST00000446306.3_Silent_p.T2681T	p.T2699T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		54	8306	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2699					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.8097A>G	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	A	9.963	1.223313	0.22457	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.92	-11.8	0.00035	.	.	.	.	.	T	0.32734	0.0839	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44221	-0.9342	4	.	.	.	.	3.4615	0.07535	0.1162:0.3537:0.3139:0.2162	.	.	.	.	R	2421	.	.	H	+	2	0	TRRAP	98412200	0.000000	0.05858	0.764000	0.31436	0.952000	0.60782	-2.470000	0.00991	-1.534000	0.01743	0.459000	0.35465	CAC		0.557	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		7	100	0	0	0	1	0	7	100				
MYBPHL	343263	broad.mit.edu	37	1	109839460	109839460	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:109839460G>A	ENST00000357155.1	-	5	724	c.675C>T	c.(673-675)tgC>tgT	p.C225C	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	225	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		CACTGAGTCCGCACTGGTTTT	0.552																																						ENST00000357155.1																			0				central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14						c.(673-675)tgC>tgT		myosin binding protein H-like							157.0	121.0	133.0					1																	109839460		2203	4300	6503	SO:0001819	synonymous_variant	343263							g.chr1:109839460G>A	AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.675C>T	1.37:g.109839460G>A						MYBPHL_ENST00000477962.1_Intron	p.C225C	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)	5	724	-		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)	225			Fibronectin type-III.		B7ZME5|Q5T2Z7	Silent	SNP	ENST00000357155.1	37	c.675C>T	CCDS30793.1																																																																																				0.552	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985		22	75	0	0	0	1	0	22	75				
LTBP2	4053	broad.mit.edu	37	14	74999222	74999222	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:74999222A>G	ENST00000261978.4	-	10	2280	c.1894T>C	c.(1894-1896)Tgc>Cgc	p.C632R	LTBP2_ENST00000556690.1_Missense_Mutation_p.C632R	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	632	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCGTCCTTGCACAGGCCCAGG	0.622																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1894-1896)Tgc>Cgc		latent transforming growth factor beta binding protein 2							115.0	78.0	91.0					14																	74999222		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74999222A>G		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1894T>C	14.37:g.74999222A>G	ENSP00000261978:p.Cys632Arg					LTBP2_ENST00000556690.1_Missense_Mutation_p.C632R	p.C632R	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	10	2280	-			632			EGF-like 3; calcium-binding (Potential).		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.1894T>C	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.270215	0.80469	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.99445	-5.91;-5.91	5.35	5.35	0.76521	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.46145	D	0.000312	D	0.99778	0.9908	H	0.99464	4.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97235	0.9887	10	0.49607	T	0.09	.	14.3298	0.66548	1.0:0.0:0.0:0.0	.	632	Q14767	LTBP2_HUMAN	R	632	ENSP00000261978:C632R;ENSP00000451477:C632R	ENSP00000261978:C632R	C	-	1	0	LTBP2	74068975	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	8.722000	0.91452	2.020000	0.59435	0.379000	0.24179	TGC		0.622	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		12	38	0	0	0	1	0	12	38				
NDUFAF6	137682	broad.mit.edu	37	8	96057819	96057819	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:96057819A>G	ENST00000396124.4	+	5	547	c.524A>G	c.(523-525)gAa>gGa	p.E175G	NDUFAF6_ENST00000396111.2_Missense_Mutation_p.E83G|NDUFAF6_ENST00000396113.1_Missense_Mutation_p.E83G|NDUFAF6_ENST00000542894.1_Missense_Mutation_p.E123G|NDUFAF6_ENST00000286687.4_Missense_Mutation_p.E23G	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	175					biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										AAGGAACTGGAAAATTATGCT	0.289																																						ENST00000396113.1																			0											c.(247-249)gAa>gGa		NADH dehydrogenase (ubiquinone) complex I, assembly factor 6							162.0	153.0	156.0					8																	96057819		1814	4077	5891	SO:0001583	missense	137682				biosynthetic process	mitochondrion	transferase activity	g.chr8:96057819A>G	BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"""Mitochondrial respiratory chain complex assembly factors"""	28625	protein-coding gene	gene with protein product		612392	"""chromosome 8 open reading frame 38"""	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.524A>G	8.37:g.96057819A>G	ENSP00000379430:p.Glu175Gly					NDUFAF6_ENST00000542894.1_Missense_Mutation_p.E123G|NDUFAF6_ENST00000396124.4_Missense_Mutation_p.E175G|NDUFAF6_ENST00000286687.4_Missense_Mutation_p.E23G|NDUFAF6_ENST00000396111.2_Missense_Mutation_p.E83G	p.E83G			Q330K2	CH038_HUMAN			11	1298	+			175					A8MT28|A8MWF0|B4DQ45|Q8N6U6	Missense_Mutation	SNP	ENST00000396124.4	37	c.248A>G	CCDS6266.2	.	.	.	.	.	.	.	.	.	.	A	26.0	4.699103	0.88830	.	.	ENSG00000156170	ENST00000523378;ENST00000396113;ENST00000396111;ENST00000519136;ENST00000542894;ENST00000396124;ENST00000286687;ENST00000519804	D;D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.78	5.78	0.91487	Terpenoid synthase (2);	0.402255	0.28815	N	0.014047	D	0.94052	0.8094	M	0.92604	3.325	0.80722	D	1	D;P;P;D	0.89917	1.0;0.899;0.937;1.0	D;P;P;D	0.87578	0.998;0.837;0.661;0.998	D	0.95243	0.8353	10	0.87932	D	0	-26.277	15.0847	0.72142	1.0:0.0:0.0:0.0	.	23;175;123;143	B4DW83;Q330K2;Q330K2-2;B4DQ45	.;CH038_HUMAN;.;.	G	83;83;83;64;123;175;23;64	ENSP00000428034:E83G;ENSP00000379419:E83G;ENSP00000379417:E83G;ENSP00000429585:E64G;ENSP00000444515:E123G;ENSP00000379430:E175G;ENSP00000286687:E23G;ENSP00000430230:E64G	ENSP00000286687:E23G	E	+	2	0	C8orf38	96126995	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.873000	0.87193	2.210000	0.71456	0.533000	0.62120	GAA		0.289	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316700.2	NM_152416		18	106	0	0	0	1	0	18	106				
MUC5B	727897	broad.mit.edu	37	11	1261492	1261492	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1261492T>C	ENST00000529681.1	+	30	3915	c.3857T>C	c.(3856-3858)aTc>aCc	p.I1286T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.I1289T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1286					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCTGCTTGATCGCCATCTGC	0.612																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(3865-3867)aTc>aCc		mucin 5B, oligomeric mucus/gel-forming							70.0	80.0	77.0					11																	1261492		2162	4259	6421	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1261492T>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3857T>C	11.37:g.1261492T>C	ENSP00000436812:p.Ile1286Thr					MUC5B_ENST00000529681.1_Missense_Mutation_p.I1286T	p.I1289T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	30	3924	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1286					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.3866T>C	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	T	1.491	-0.554679	0.03996	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16324	2.35;2.53	4.77	1.06	0.20224	.	.	.	.	.	T	0.08358	0.0208	N	0.10664	0.02	0.09310	N	1	B;B	0.26744	0.158;0.158	B;B	0.23419	0.027;0.046	T	0.31392	-0.9945	9	0.87932	D	0	.	6.6636	0.23029	0.0:0.1346:0.3874:0.478	.	1979;1289	A7Y9J9;E9PBJ0	.;.	T	1286;1289;1287;1356	ENSP00000436812:I1286T;ENSP00000415793:I1289T	ENSP00000343037:I1287T	I	+	2	0	MUC5B	1218068	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.373000	0.07494	-0.062000	0.13088	-0.648000	0.03929	ATC		0.612	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		7	61	0	0	0	1	0	7	61				
TAZ	6901	broad.mit.edu	37	X	153648397	153648397	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:153648397C>T	ENST00000350743.4	+	7	809	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	TAZ_ENST00000369776.4_Missense_Mutation_p.H135Y|TAZ_ENST00000369790.4_Missense_Mutation_p.H160Y|TAZ_ENST00000475699.1_Missense_Mutation_p.H177Y|TAZ_ENST00000351413.4_Missense_Mutation_p.H190Y|TAZ_ENST00000299328.5_Missense_Mutation_p.H204Y|TAZ_ENST00000498029.1_3'UTR	NM_181311.2	NP_851828.1	Q9GZV5	WWTR1_HUMAN	tafazzin	0					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCTGAGTGTCATCTCAACCC	0.627																																						ENST00000299328.5																			0				lung(1)	1						c.(610-612)Cat>Tat		tafazzin							112.0	103.0	106.0					X																	153648397		2203	4300	6503	SO:0001583	missense	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153648397C>T	X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"""Barth syndrome"""	300394	"""endocardial fibroelastosis 2"", ""cardiomyopathy, dilated 3A (X-linked)"""	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000350743.4:c.520C>T	X.37:g.153648397C>T	ENSP00000338891:p.His174Tyr					TAZ_ENST00000350743.4_Missense_Mutation_p.H174Y|TAZ_ENST00000351413.4_Missense_Mutation_p.H190Y|TAZ_ENST00000369790.4_Missense_Mutation_p.H160Y|TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000369776.4_Missense_Mutation_p.H135Y	p.H204Y	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN			8	899	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		204					D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000350743.4	37	c.610C>T	CCDS14749.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584301	0.46110	.	.	ENSG00000102125	ENST00000369790;ENST00000299328;ENST00000350743;ENST00000454722;ENST00000351413;ENST00000369776;ENST00000439735;ENST00000475699	D;D;D;D;D;D;D;D	0.98400	-3.24;-3.19;-3.19;-4.27;-3.24;-4.91;-3.19;-3.19	5.3	5.3	0.74995	Phospholipid/glycerol acyltransferase (2);	0.260386	0.38492	N	0.001674	D	0.96595	0.8889	L	0.38531	1.155	0.27364	N	0.955892	B;P;B;B;B;P	0.50066	0.282;0.847;0.003;0.037;0.087;0.931	B;P;B;B;B;P	0.49887	0.296;0.625;0.014;0.053;0.142;0.575	D	0.93160	0.6557	10	0.66056	D	0.02	-1.5819	9.1288	0.36833	0.0:0.8991:0.0:0.1009	.	208;135;160;174;190;204	A6XNE1;Q96F92;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;.;TAZ_HUMAN	Y	160;204;174;192;190;135;173;177	ENSP00000358805:H160Y;ENSP00000299328:H204Y;ENSP00000338891:H174Y;ENSP00000397388:H192Y;ENSP00000218246:H190Y;ENSP00000358791:H135Y;ENSP00000398193:H173Y;ENSP00000419854:H177Y	ENSP00000299328:H204Y	H	+	1	0	TAZ	153301591	0.982000	0.34865	0.998000	0.56505	0.980000	0.70556	2.182000	0.42556	2.232000	0.73038	0.525000	0.51046	CAT		0.627	TAZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080939.1			6	146	0	0	0	1	0	6	146				
TRPM4	54795	broad.mit.edu	37	19	49671539	49671539	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:49671539T>C	ENST00000252826.5	+	5	597	c.471T>C	c.(469-471)ggT>ggC	p.G157G	TRPM4_ENST00000427978.2_Silent_p.G157G|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	157					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCACTGGGGGTCTGCACACGG	0.607																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(469-471)ggT>ggC		transient receptor potential cation channel, subfamily M, member 4							95.0	94.0	95.0					19																	49671539		2203	4300	6503	SO:0001819	synonymous_variant	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49671539T>C	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.471T>C	19.37:g.49671539T>C						TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Silent_p.G157G	p.G157G	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	5	597	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	157					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	ENST00000252826.5	37	c.471T>C	CCDS33073.1																																																																																				0.607	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		48	119	0	0	0	1	0	48	119				
ADAM18	8749	broad.mit.edu	37	8	39564395	39564395	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:39564395T>C	ENST00000265707.5	+	18	2034	c.1989T>C	c.(1987-1989)agT>agC	p.S663S	ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000379866.1_Silent_p.S639S|ADAM18_ENST00000541111.1_Silent_p.S77S	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	663					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CAGGGGGTAGTATTGATGATG	0.313																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(1987-1989)agT>agC		ADAM metallopeptidase domain 18							74.0	75.0	75.0					8																	39564395		2203	4299	6502	SO:0001819	synonymous_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39564395T>C	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1989T>C	8.37:g.39564395T>C						ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000379866.1_Silent_p.S639S|ADAM18_ENST00000541111.1_Silent_p.S77S	p.S663S	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		18	2034	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	663					B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Silent	SNP	ENST00000265707.5	37	c.1989T>C	CCDS6113.1																																																																																				0.313	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		9	51	0	0	0	1	0	9	51				
PNCK	139728	broad.mit.edu	37	X	152939660	152939660	+	5'Flank	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:152939660C>T	ENST00000370150.1	-	0	0				PNCK_ENST00000393831.2_De_novo_Start_InFrame|PNCK_ENST00000340888.3_5'Flank|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000370145.4_5'Flank|PNCK_ENST00000370142.1_Intron|PNCK_ENST00000447676.2_De_novo_Start_InFrame			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase							cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAACCCTGCACCACAGCTCTG	0.637																																						ENST00000393831.2																			0				breast(2)|lung(3)|skin(1)	6								pregnancy up-regulated nonubiquitous CaM kinase							32.0	31.0	32.0					X																	152939660		1567	3578	5145	SO:0001631	upstream_gene_variant	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152939660C>T	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216		X.37:g.152939660C>T	Exception_encountered					PNCK_ENST00000370142.1_Intron|PNCK_ENST00000447676.2_De_novo_Start_InFrame		NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN			0	156	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)							B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Translation_Start_Site	SNP	ENST00000370150.1	37																																																																																						0.637	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		12	17	0	0	0	1	0	12	17				
ZNF28	7576	broad.mit.edu	37	19	53302978	53302978	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:53302978A>G	ENST00000457749.2	-	4	2239	c.2120T>C	c.(2119-2121)gTa>gCa	p.V707A	ZNF28_ENST00000438150.2_Missense_Mutation_p.V654A|ZNF28_ENST00000414252.2_Missense_Mutation_p.V654A|ZNF28_ENST00000360272.4_Missense_Mutation_p.V654A	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	707					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATGATGGTATACAAGGTTTGA	0.418																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1960-1962)gTa>gCa		zinc finger protein 28							109.0	103.0	105.0					19																	53302978		2200	4296	6496	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53302978A>G	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.2120T>C	19.37:g.53302978A>G	ENSP00000397693:p.Val707Ala					ZNF28_ENST00000457749.2_Missense_Mutation_p.V707A|ZNF28_ENST00000360272.4_Missense_Mutation_p.V654A|ZNF28_ENST00000414252.2_Missense_Mutation_p.V654A	p.V654A			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	2854	-			707					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1961T>C	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	0.005	-2.233104	0.00277	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	1.65	-2.4	0.06583	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	N	0.24115	0.695	0.09310	N	1	B	0.17852	0.024	B	0.12837	0.008	T	0.46925	-0.9156	9	0.13853	T	0.58	.	3.7617	0.08606	0.4213:0.0:0.4009:0.1779	.	707	P17035	ZNF28_HUMAN	A	654;707;654;654	ENSP00000412143:V654A;ENSP00000397693:V707A;ENSP00000353410:V654A;ENSP00000444965:V654A	ENSP00000353410:V654A	V	-	2	0	ZNF28	57994790	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-7.832000	0.00029	-0.600000	0.05790	-0.779000	0.03376	GTA		0.418	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		47	131	0	0	0	1	0	47	131				
PDHB	5162	broad.mit.edu	37	3	58419401	58419401	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:58419401A>G	ENST00000302746.6	-	2	95	c.53T>C	c.(52-54)cTg>cCg	p.L18P	PDHB_ENST00000474765.1_Intron|PDHB_ENST00000485460.1_Missense_Mutation_p.L18P	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	18					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	Pyruvic acid(DB00119)	CCTCTTCAGCAGCCCGGAGAC	0.711																																						ENST00000302746.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9						c.(52-54)cTg>cCg		pyruvate dehydrogenase (lipoamide) beta	NADH(DB00157)|Pyruvic acid(DB00119)						18.0	24.0	22.0					3																	58419401		2198	4299	6497	SO:0001583	missense	5162				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr3:58419401A>G		CCDS2890.1, CCDS54602.1	3p21.1-p14.2	1995-12-20			ENSG00000168291	ENSG00000168291	1.2.4.1		8808	protein-coding gene	gene with protein product		179060					Standard	NR_033384		Approved		uc003dkf.4	P11177	OTTHUMG00000159157	ENST00000302746.6:c.53T>C	3.37:g.58419401A>G	ENSP00000307241:p.Leu18Pro					PDHB_ENST00000485460.1_Missense_Mutation_p.L18P|PDHB_ENST00000474765.1_Intron	p.L18P	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	2	95	-			18					B2R7L0|B4DDD7|Q6FH45|Q9BQ27|Q9UFK3	Missense_Mutation	SNP	ENST00000302746.6	37	c.53T>C	CCDS2890.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.610769	0.66558	.	.	ENSG00000168291	ENST00000302746;ENST00000485460	D;D	0.98060	-4.14;-4.69	5.37	5.37	0.77165	.	0.402809	0.25503	N	0.030233	D	0.93893	0.8046	N	0.08118	0	0.80722	D	1	B;P	0.40302	0.001;0.712	B;B	0.43728	0.005;0.429	D	0.93624	0.6950	10	0.28530	T	0.3	-4.8125	14.4905	0.67647	1.0:0.0:0.0:0.0	.	18;18	B4DDD7;P11177	.;ODPB_HUMAN	P	18	ENSP00000307241:L18P;ENSP00000417267:L18P	ENSP00000307241:L18P	L	-	2	0	PDHB	58394441	0.996000	0.38824	1.000000	0.80357	0.861000	0.49209	3.412000	0.52679	2.248000	0.74166	0.459000	0.35465	CTG		0.711	PDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353558.1			3	19	0	0	0	1	0	3	19				
KCNQ5	56479	broad.mit.edu	37	6	73904329	73904329	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:73904329A>G	ENST00000370398.1	+	14	2100	c.1991A>G	c.(1990-1992)aAa>aGa	p.K664R	KCNQ5_ENST00000403813.2_Missense_Mutation_p.K655R|KCNQ5_ENST00000355194.4_Missense_Mutation_p.K664R|KCNQ5_ENST00000402622.2_Missense_Mutation_p.K674R|KCNQ5_ENST00000355635.3_Missense_Mutation_p.K665R|KCNQ5_ENST00000414165.2_Missense_Mutation_p.K554R|KCNQ5_ENST00000342056.2_Missense_Mutation_p.K683R	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	664					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GTGGATAGCAAAGATCTTTCG	0.493																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(2047-2049)aAa>aGa		potassium voltage-gated channel, KQT-like subfamily, member 5							95.0	95.0	95.0					6																	73904329		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73904329A>G	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1991A>G	6.37:g.73904329A>G	ENSP00000359425:p.Lys664Arg					KCNQ5_ENST00000414165.2_Missense_Mutation_p.K554R|KCNQ5_ENST00000355194.4_Missense_Mutation_p.K664R|KCNQ5_ENST00000402622.2_Missense_Mutation_p.K674R|KCNQ5_ENST00000370398.1_Missense_Mutation_p.K664R|KCNQ5_ENST00000355635.3_Missense_Mutation_p.K665R|KCNQ5_ENST00000403813.2_Missense_Mutation_p.K655R	p.K683R	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	15	2446	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	664					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.2048A>G	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	A	9.438	1.087405	0.20390	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99394	-5.6;-5.63;-5.64;-5.61;-5.63;-5.66;-5.82	5.41	4.25	0.50352	.	0.107994	0.64402	N	0.000008	D	0.95652	0.8586	L	0.44542	1.39	0.25959	N	0.982652	P;B;B;B;B	0.35011	0.48;0.02;0.002;0.044;0.026	B;B;B;B;B	0.37692	0.256;0.03;0.013;0.049;0.013	D	0.91923	0.5549	10	0.15499	T	0.54	-7.5187	11.0065	0.47637	0.9267:0.0:0.0733:0.0	.	554;674;683;655;664	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	R	683;683;664;664;674;665;655;554	ENSP00000345055:K683R;ENSP00000347326:K664R;ENSP00000359425:K664R;ENSP00000385501:K674R;ENSP00000347853:K665R;ENSP00000384453:K655R;ENSP00000409861:K554R	ENSP00000345055:K683R	K	+	2	0	KCNQ5	73961050	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	3.489000	0.53237	0.895000	0.36342	0.459000	0.35465	AAA		0.493	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		7	135	0	0	0	1	0	7	135				
DCLRE1A	9937	broad.mit.edu	37	10	115595055	115595055	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:115595055T>C	ENST00000361384.2	-	9	3896	c.2979A>G	c.(2977-2979)gaA>gaG	p.E993E	DCLRE1A_ENST00000369305.1_Silent_p.E993E	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	993					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AGCTGCTGTGTTCACTGTAAG	0.353								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(2977-2979)gaA>gaG	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							84.0	79.0	81.0					10																	115595055		2203	4300	6503	SO:0001819	synonymous_variant	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115595055T>C		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2979A>G	10.37:g.115595055T>C						DCLRE1A_ENST00000369305.1_Silent_p.E993E	p.E993E	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	9	3896	-			993					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Silent	SNP	ENST00000361384.2	37	c.2979A>G	CCDS7584.1																																																																																				0.353	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		17	49	0	0	0	1	0	17	49				
C15orf57	90416	broad.mit.edu	37	15	40855200	40855200	+	Missense_Mutation	SNP	C	C	G	rs369168610		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:40855200C>G	ENST00000358005.3	-	2	288	c.15G>C	c.(13-15)gaG>gaC	p.E5D	C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000558113.1_Missense_Mutation_p.E5D|C15orf57_ENST00000558750.1_Missense_Mutation_p.E14D|C15orf57_ENST00000561011.1_Missense_Mutation_p.E5D|C15orf57_ENST00000416810.2_Missense_Mutation_p.E5D|C15orf57_ENST00000559911.1_Missense_Mutation_p.E5D|C15orf57_ENST00000560305.1_Missense_Mutation_p.E5D|C15orf57_ENST00000558871.1_Missense_Mutation_p.E5D	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	5										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						AGTCAGCGCTCTCAAACATTT	0.443																																						ENST00000358005.3																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						c.(13-15)gaG>gaC		chromosome 15 open reading frame 57		C	ASP/GLU,ASP/GLU,ASP/GLU	0,4406		0,0,2203	129.0	135.0	133.0		42,15,15	1.1	0.2	15		133	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	C15orf57	NM_001080791.1,NM_001080792.1,NM_052849.2	45,45,45	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	14/195,5/186,5/186	40855200	1,13005	2203	4300	6503	SO:0001583	missense	90416							g.chr15:40855200C>G	BC012189	CCDS10060.1, CCDS42022.1, CCDS73706.1	15q15.1	2008-05-30	2008-05-30	2008-05-30	ENSG00000128891	ENSG00000128891			28295	protein-coding gene	gene with protein product			"""coiled-coil domain containing 32"""	CCDC32		12477932	Standard	NM_001080791		Approved	MGC20481	uc001zma.1	Q9BV29	OTTHUMG00000129993	ENST00000358005.3:c.15G>C	15.37:g.40855200C>G	ENSP00000350695:p.Glu5Asp					C15orf57_ENST00000560305.1_Missense_Mutation_p.E5D|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000561011.1_Missense_Mutation_p.E5D|C15orf57_ENST00000559911.1_Missense_Mutation_p.E5D|C15orf57_ENST00000558871.1_Missense_Mutation_p.E5D|C15orf57_ENST00000558750.1_Missense_Mutation_p.E14D|C15orf57_ENST00000558113.1_Missense_Mutation_p.E5D|C15orf57_ENST00000416810.2_Missense_Mutation_p.E5D	p.E5D	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN			2	288	-			5					A8KAL4|Q86TC4|Q8N788|Q8NAR7	Missense_Mutation	SNP	ENST00000358005.3	37	c.15G>C	CCDS10060.1	.	.	.	.	.	.	.	.	.	.	C	8.539	0.872834	0.17322	0.0	1.16E-4	ENSG00000128891	ENST00000358005;ENST00000416810	T	0.45668	0.89	5.22	1.11	0.20524	.	0.125361	0.56097	D	0.000027	T	0.23014	0.0556	N	0.24115	0.695	0.37051	D	0.897582	B;B;B	0.23442	0.044;0.044;0.085	B;B;B	0.26864	0.041;0.041;0.074	T	0.10428	-1.0630	10	0.17369	T	0.5	-36.9785	5.7301	0.18034	0.0:0.5096:0.1271:0.3632	.	5;14;5	Q9BV29;Q9BV29-2;Q9BV29-3	CO057_HUMAN;.;.	D	5;14	ENSP00000350695:E5D	ENSP00000350695:E5D	E	-	3	2	C15orf57	38642492	0.994000	0.37717	0.162000	0.22713	0.002000	0.02628	0.540000	0.23191	-0.046000	0.13446	-0.474000	0.04947	GAG		0.443	C15orf57-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252259.2	NM_052849		51	175	0	0	0	1	0	51	175				
TYW1B	441250	broad.mit.edu	37	7	72267523	72267523	+	RNA	SNP	G	G	A	rs558760780	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:72267523G>A	ENST00000435769.2	-	0	860				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TGGAGCTCTCGAAGGGTTCTT	0.448													.|||	7	0.00139776	0.0	0.0	5008	,	,		18539	0.0		0.0	False		,,,				2504	0.0072					ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							174.0	138.0	149.0					7																	72267523		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72267523G>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72267523G>A										Q6NUM6	TYW1B_HUMAN			0	350	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.448	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		4	82	0	0	0	1	0	4	82				
GPR113	165082	broad.mit.edu	37	2	26534142	26534142	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:26534142G>A	ENST00000311519.1	-	11	2453	c.2454C>T	c.(2452-2454)tgC>tgT	p.C818C	GPR113_ENST00000541401.1_Silent_p.C421C|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Silent_p.C619C|GPR113_ENST00000421160.2_Silent_p.C749C	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	818					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGCCAGCAAGCAGAACACCA	0.612																																						ENST00000333478.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1855-1857)tgC>tgT		G protein-coupled receptor 113							51.0	38.0	42.0					2																	26534142		2203	4300	6503	SO:0001819	synonymous_variant	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26534142G>A	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2454C>T	2.37:g.26534142G>A						GPR113_ENST00000541401.1_Silent_p.C421C|GPR113_ENST00000421160.2_Silent_p.C749C|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Silent_p.C818C	p.C619C	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN			8	2439	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		818					B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	ENST00000311519.1	37	c.1857C>T	CCDS46239.1																																																																																				0.612	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		8	32	0	0	0	1	0	8	32				
KIAA0319L	79932	broad.mit.edu	37	1	35936545	35936545	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:35936545G>A	ENST00000325722.3	-	6	1266	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y	KIAA0319L_ENST00000485551.1_5'Flank	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	344	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCTGCCAGTCGTAGGTGTAGG	0.433																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(1030-1032)taC>taT		KIAA0319-like							134.0	124.0	128.0					1																	35936545		2203	4300	6503	SO:0001819	synonymous_variant	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35936545G>A	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1032C>T	1.37:g.35936545G>A							p.Y344Y	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN			6	1266	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	344			PKD 1.		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	c.1032C>T	CCDS390.1	.	.	.	.	.	.	.	.	.	.	G	6.240	0.412442	0.11812	.	.	ENSG00000142687	ENST00000431916	.	.	.	6.17	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2046	14.3567	0.66742	0.0709:0.0:0.9291:0.0	.	.	.	.	X	174	.	.	R	-	1	2	KIAA0319L	35709132	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.864000	0.48404	1.634000	0.50500	0.655000	0.94253	CGA		0.433	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		30	94	0	0	0	1	0	30	94				
ZNF827	152485	broad.mit.edu	37	4	146807025	146807025	+	Missense_Mutation	SNP	A	A	G	rs369098617		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:146807025A>G	ENST00000508784.1	-	4	1779	c.1552T>C	c.(1552-1554)Tcg>Ccg	p.S518P	ZNF827_ENST00000513320.1_Missense_Mutation_p.S168P|ZNF827_ENST00000379448.4_Missense_Mutation_p.S518P			Q17R98	ZN827_HUMAN	zinc finger protein 827	518					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AGCAAAGGCGAGACGCCAGCC	0.587																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1552-1554)Tcg>Ccg		zinc finger protein 827		A	PRO/SER	0,4406		0,0,2203	114.0	105.0	108.0		1552	1.9	1.0	4		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF827	NM_178835.3	74	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	518/1078	146807025	1,13005	2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146807025A>G	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1552T>C	4.37:g.146807025A>G	ENSP00000421863:p.Ser518Pro					ZNF827_ENST00000379448.4_Missense_Mutation_p.S518P|ZNF827_ENST00000513320.1_Missense_Mutation_p.S168P	p.S518P			Q17R98	ZN827_HUMAN			4	1779	-	all_hematologic(180;0.151)		518					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.1552T>C		.	.	.	.	.	.	.	.	.	.	A	11.30	1.597638	0.28445	0.0	1.16E-4	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.07021	3.29;3.23;3.32	5.62	1.92	0.25849	.	0.298816	0.36200	N	0.002734	T	0.02929	0.0087	N	0.04508	-0.205	0.37967	D	0.933174	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.44513	-0.9323	10	0.25106	T	0.35	-4.0066	2.9956	0.05997	0.3804:0.2754:0.3443:0.0	.	168;518;518	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	P	518;168;518;517;168	ENSP00000421863:S518P;ENSP00000423130:S168P;ENSP00000368761:S518P	ENSP00000281318:S517P	S	-	1	0	ZNF827	147026475	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	3.291000	0.51764	0.412000	0.25729	0.459000	0.35465	TCG		0.587	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		23	92	0	0	0	1	0	23	92				
COL6A3	1293	broad.mit.edu	37	2	238280912	238280912	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:238280912A>G	ENST00000295550.4	-	9	4200	c.3748T>C	c.(3748-3750)Tac>Cac	p.Y1250H	COL6A3_ENST00000409809.1_Missense_Mutation_p.Y1044H|COL6A3_ENST00000353578.4_Missense_Mutation_p.Y1044H|COL6A3_ENST00000392003.2_Missense_Mutation_p.Y843H|COL6A3_ENST00000472056.1_Missense_Mutation_p.Y643H|COL6A3_ENST00000347401.3_Missense_Mutation_p.Y1049H|COL6A3_ENST00000346358.4_Missense_Mutation_p.Y1050H|COL6A3_ENST00000392004.3_Missense_Mutation_p.Y1044H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1250	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTGCGAACGTACTGGAACTCA	0.567																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3748-3750)Tac>Cac		collagen, type VI, alpha 3							64.0	60.0	61.0					2																	238280912		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280912A>G	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3748T>C	2.37:g.238280912A>G	ENSP00000295550:p.Tyr1250His					COL6A3_ENST00000472056.1_Missense_Mutation_p.Y643H|COL6A3_ENST00000353578.4_Missense_Mutation_p.Y1044H|COL6A3_ENST00000346358.4_Missense_Mutation_p.Y1050H|COL6A3_ENST00000392003.2_Missense_Mutation_p.Y843H|COL6A3_ENST00000392004.3_Missense_Mutation_p.Y1044H|COL6A3_ENST00000409809.1_Missense_Mutation_p.Y1044H|COL6A3_ENST00000347401.3_Missense_Mutation_p.Y1049H	p.Y1250H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	9	4200	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1250			Nonhelical region.|VWFA 7.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3748T>C	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	2.568	-0.300371	0.05532	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.58	0.455	0.16649	von Willebrand factor, type A (3);	0.611104	0.14572	N	0.311418	T	0.74543	0.3730	L	0.41236	1.265	0.09310	N	1	B;B;B;B;B	0.20261	0.043;0.0;0.0;0.017;0.002	B;B;B;B;B	0.29440	0.102;0.008;0.012;0.091;0.005	T	0.57219	-0.7849	10	0.16896	T	0.51	.	10.7232	0.46052	0.6363:0.0:0.3637:0.0	.	643;843;1044;1044;1250	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	H	1250;1049;1044;643;1044;1050;1044;843	ENSP00000295550:Y1250H;ENSP00000315609:Y1049H;ENSP00000315873:Y1044H;ENSP00000418285:Y643H;ENSP00000386844:Y1044H;ENSP00000295546:Y1050H;ENSP00000375861:Y1044H;ENSP00000375860:Y843H	ENSP00000295550:Y1250H	Y	-	1	0	COL6A3	237945651	0.000000	0.05858	0.997000	0.53966	0.185000	0.23345	-0.209000	0.09358	-0.142000	0.11354	-1.122000	0.02009	TAC		0.567	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		5	88	0	0	0	1	0	5	88				
ZBTB26	57684	broad.mit.edu	37	9	125681684	125681684	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:125681684T>C	ENST00000373656.3	-	2	603	c.530A>G	c.(529-531)gAc>gGc	p.D177G	ZBTB26_ENST00000373654.1_Missense_Mutation_p.D177G	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						AATATCACTGTCCTCCATATC	0.433																																						ENST00000373656.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(529-531)gAc>gGc		zinc finger and BTB domain containing 26							122.0	114.0	117.0					9																	125681684		2203	4300	6503	SO:0001583	missense	57684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125681684T>C	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23383	protein-coding gene	gene with protein product			"""zinc finger protein 481"""	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.530A>G	9.37:g.125681684T>C	ENSP00000362760:p.Asp177Gly					ZBTB26_ENST00000373654.1_Missense_Mutation_p.D177G	p.D177G	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN			2	603	-			177					B3KQ53|Q8WTR1	Missense_Mutation	SNP	ENST00000373656.3	37	c.530A>G	CCDS6847.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.630807	0.28978	.	.	ENSG00000171448	ENST00000373656;ENST00000373654	T;T	0.10960	2.82;2.82	5.52	5.52	0.82312	.	0.129900	0.53938	D	0.000054	T	0.11324	0.0276	L	0.54323	1.7	0.58432	D	0.999999	P	0.49090	0.919	B	0.35039	0.194	T	0.06445	-1.0826	10	0.41790	T	0.15	.	15.6766	0.77332	0.0:0.0:0.0:1.0	.	177	Q9HCK0	ZBT26_HUMAN	G	177	ENSP00000362760:D177G;ENSP00000362758:D177G	ENSP00000362758:D177G	D	-	2	0	ZBTB26	124721505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.502000	0.81614	2.099000	0.63709	0.533000	0.62120	GAC		0.433	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924		27	89	0	0	0	1	0	27	89				
MFAP5	8076	broad.mit.edu	37	12	8807057	8807057	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:8807057T>A	ENST00000359478.2	-	6	380	c.193A>T	c.(193-195)Att>Ttt	p.I65F	MFAP5_ENST00000535336.1_Missense_Mutation_p.I65F|MFAP5_ENST00000540087.1_Missense_Mutation_p.I65F|MFAP5_ENST00000433590.2_Intron|MFAP5_ENST00000538107.1_5'UTR|MFAP5_ENST00000543369.1_Missense_Mutation_p.I53F|MFAP5_ENST00000396549.2_Missense_Mutation_p.I65F	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	65					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					GAAGGTGCAATATCAGCCAAA	0.493																																						ENST00000359478.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13						c.(193-195)Att>Ttt		microfibrillar associated protein 5							85.0	69.0	74.0					12																	8807057		2203	4300	6503	SO:0001583	missense	8076					microfibril	extracellular matrix structural constituent	g.chr12:8807057T>A	AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.193A>T	12.37:g.8807057T>A	ENSP00000352455:p.Ile65Phe					MFAP5_ENST00000396549.2_Missense_Mutation_p.I65F|MFAP5_ENST00000538107.1_5'UTR|MFAP5_ENST00000540087.1_Missense_Mutation_p.I65F|MFAP5_ENST00000535336.1_Missense_Mutation_p.I65F|MFAP5_ENST00000433590.2_Intron|MFAP5_ENST00000543369.1_Missense_Mutation_p.I53F	p.I65F	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN			6	380	-	Lung SC(5;0.184)		65					B0AZL6|D3DUV1|Q7Z490	Missense_Mutation	SNP	ENST00000359478.2	37	c.193A>T	CCDS8595.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.368503	0.42003	.	.	ENSG00000197614	ENST00000359478;ENST00000396549;ENST00000543369;ENST00000535336;ENST00000540087;ENST00000544889	.	.	.	4.87	-2.74	0.05932	.	0.751038	0.12538	N	0.460176	T	0.30262	0.0759	L	0.51422	1.61	0.27064	N	0.963486	P;P	0.46784	0.884;0.884	P;P	0.44860	0.462;0.462	T	0.23261	-1.0193	9	0.56958	D	0.05	-3.8516	5.8922	0.18919	0.0:0.4651:0.1625:0.3724	.	65;65	Q13361;Q7Z490	MFAP5_HUMAN;.	F	65;65;53;65;65;65	.	ENSP00000352455:I65F	I	-	1	0	MFAP5	8698324	0.973000	0.33851	0.426000	0.26672	0.351000	0.29236	0.175000	0.16762	-0.307000	0.08804	-0.242000	0.12053	ATT		0.493	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480		3	18	0	0	0	1	0	3	18				
CRIM1	51232	broad.mit.edu	37	2	36774272	36774272	+	Silent	SNP	A	A	G	rs148618747		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:36774272A>G	ENST00000280527.2	+	16	3259	c.2892A>G	c.(2890-2892)aaA>aaG	p.K964K	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	964					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				ATCAGAAGAAACAGTGGATAC	0.383													A|||	1	0.000199681	0.0	0.0	5008	,	,		18951	0.0		0.0	False		,,,				2504	0.001					ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(2890-2892)aaA>aaG		cysteine rich transmembrane BMP regulator 1 (chordin-like)		A		1,4405	2.1+/-5.4	0,1,2202	96.0	96.0	96.0		2892	-0.8	1.0	2	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	CRIM1	NM_016441.2		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		964/1037	36774272	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36774272A>G	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2892A>G	2.37:g.36774272A>G						AC007401.2_ENST00000406220.1_Intron	p.K964K	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			16	3259	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	964					Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	c.2892A>G	CCDS1783.1																																																																																				0.383	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		21	69	0	0	0	1	0	21	69				
DHX16	8449	broad.mit.edu	37	6	30639032	30639032	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:30639032A>G	ENST00000376442.3	-	2	422	c.227T>C	c.(226-228)gTa>gCa	p.V76A		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	76					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						TGGCTTTTCTACCACTGCCTT	0.537																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(226-228)gTa>gCa		DEAH (Asp-Glu-Ala-His) box polypeptide 16							211.0	260.0	242.0					6																	30639032		1510	2707	4217	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30639032A>G	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.227T>C	6.37:g.30639032A>G	ENSP00000365625:p.Val76Ala						p.V76A	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			2	422	-			76					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.227T>C	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	A	7.163	0.586146	0.13749	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.39787	4.3;1.06	5.27	1.69	0.24217	.	0.291489	0.32231	N	0.006382	T	0.03520	0.0101	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43972	-0.9358	10	0.07325	T	0.83	.	5.2126	0.15325	0.6243:0.1481:0.2277:0.0	.	16;76	B4DZ28;O60231	.;DHX16_HUMAN	A	76;16	ENSP00000365625:V76A;ENSP00000399101:V16A	ENSP00000365625:V76A	V	-	2	0	DHX16	30747011	0.000000	0.05858	0.104000	0.21259	0.695000	0.40330	0.112000	0.15479	0.848000	0.35191	0.455000	0.32223	GTA		0.537	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		108	306	0	0	0	1	0	108	306				
CELSR1	9620	broad.mit.edu	37	22	46795724	46795724	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:46795724G>A	ENST00000262738.3	-	10	5301	c.5302C>T	c.(5302-5304)Cgg>Tgg	p.R1768W		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1768	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCGGTCACCCGCAACCCGGAC	0.587																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(5302-5304)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 1							161.0	118.0	133.0					22																	46795724		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46795724G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5302C>T	22.37:g.46795724G>A	ENSP00000262738:p.Arg1768Trp						p.R1768W	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	10	5301	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1768			Laminin G-like 2.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.5302C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927255	0.52759	.	.	ENSG00000075275	ENST00000262738	T	0.79141	-1.24	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	U	0.000002	D	0.88392	0.6424	M	0.78049	2.395	0.80722	D	1	D;P	0.89917	1.0;0.869	D;B	0.79784	0.993;0.333	D	0.87128	0.2195	10	0.40728	T	0.16	.	19.2996	0.94138	0.0:0.0:1.0:0.0	.	89;1768	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	W	1768	ENSP00000262738:R1768W	ENSP00000262738:R1768W	R	-	1	2	CELSR1	45174388	0.994000	0.37717	0.123000	0.21794	0.099000	0.18886	3.950000	0.56676	2.664000	0.90586	0.563000	0.77884	CGG		0.587	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		18	75	0	0	0	1	0	18	75				
LRSAM1	90678	broad.mit.edu	37	9	130265101	130265101	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:130265101T>C	ENST00000323301.4	+	25	2699	c.2095T>C	c.(2095-2097)Tgc>Cgc	p.C699R	LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.C699R|LRSAM1_ENST00000373324.4_Missense_Mutation_p.C672R|LRSAM1_ENST00000300417.6_Missense_Mutation_p.C699R	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	699					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CTGCCAGCAGTGCTGCCAGCC	0.682																																						ENST00000323301.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						c.(2095-2097)Tgc>Cgc		leucine rich repeat and sterile alpha motif containing 1							21.0	19.0	20.0					9																	130265101		2192	4288	6480	SO:0001583	missense	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130265101T>C	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.2095T>C	9.37:g.130265101T>C	ENSP00000322937:p.Cys699Arg					LRSAM1_ENST00000300417.6_Missense_Mutation_p.C699R|LRSAM1_ENST00000373322.1_Missense_Mutation_p.C699R|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373324.4_Missense_Mutation_p.C672R	p.C699R	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN			25	2699	+			699					Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	c.2095T>C	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357177	0.82243	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	D;D;D;D	0.99701	-6.45;-6.45;-6.45;-6.45	5.37	5.37	0.77165	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	H	0.98936	4.375	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	D	0.96582	0.9431	10	0.87932	D	0	-16.2104	13.3251	0.60454	0.0:0.0:0.0:1.0	.	672;699	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	R	699;672;699;699	ENSP00000300417:C699R;ENSP00000362421:C672R;ENSP00000322937:C699R;ENSP00000362419:C699R	ENSP00000300417:C699R	C	+	1	0	LRSAM1	129304922	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.389000	0.66255	2.044000	0.60594	0.418000	0.28097	TGC		0.682	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		3	21	0	0	0	1	0	3	21				
C1orf198	84886	broad.mit.edu	37	1	230979560	230979560	+	Missense_Mutation	SNP	G	G	C	rs150666760		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:230979560G>C	ENST00000366663.5	-	3	607	c.467C>G	c.(466-468)tCc>tGc	p.S156C	C1orf198_ENST00000523410.1_Missense_Mutation_p.S26C|C1orf198_ENST00000427697.2_5'UTR|C1orf198_ENST00000470540.1_Missense_Mutation_p.S118C	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	156						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGAAGCTTTGGACAGTGGTCT	0.642																																						ENST00000366663.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(466-468)tCc>tGc		chromosome 1 open reading frame 198							94.0	106.0	102.0					1																	230979560		2203	4300	6503	SO:0001583	missense	84886							g.chr1:230979560G>C	BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.467C>G	1.37:g.230979560G>C	ENSP00000355623:p.Ser156Cys					C1orf198_ENST00000523410.1_Missense_Mutation_p.S26C|C1orf198_ENST00000470540.1_Missense_Mutation_p.S118C|C1orf198_ENST00000427697.2_5'UTR	p.S156C	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN			3	607	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	156					A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	ENST00000366663.5	37	c.467C>G	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	G	4.474	0.087882	0.08583	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000523410;ENST00000522201	T;T;T	0.32515	1.45;1.45;1.45	4.13	2.17	0.27698	.	0.590409	0.16780	N	0.199807	T	0.24774	0.0601	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18840	-1.0324	10	0.44086	T	0.13	-5.6666	6.3835	0.21548	0.1273:0.3858:0.4869:0.0	.	156	Q9H425	CA198_HUMAN	C	156;118;26;113	ENSP00000355623:S156C;ENSP00000428172:S118C;ENSP00000430967:S26C	ENSP00000355623:S156C	S	-	2	0	C1orf198	229046183	0.810000	0.29049	0.001000	0.08648	0.169000	0.22640	1.317000	0.33631	0.351000	0.24027	0.462000	0.41574	TCC		0.642	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2	NM_032800		10	287	0	0	0	1	0	10	287				
TRIP4	9325	broad.mit.edu	37	15	64710846	64710846	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:64710846A>G	ENST00000261884.3	+	9	1337	c.1277A>G	c.(1276-1278)gAa>gGa	p.E426G	RN7SL707P_ENST00000582206.1_RNA	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	426					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						CAGGATCAAGAATTTCAGGAA	0.468																																						ENST00000261884.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1276-1278)gAa>gGa		thyroid hormone receptor interactor 4							96.0	84.0	88.0					15																	64710846		2203	4300	6503	SO:0001583	missense	9325				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding	g.chr15:64710846A>G	L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"""-"""	12310	protein-coding gene	gene with protein product	"""zinc finger, C2HC5-type"""	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.1277A>G	15.37:g.64710846A>G	ENSP00000261884:p.Glu426Gly						p.E426G	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN			9	1337	+			426					B2RAS0|Q96ED7|Q9UKH0	Missense_Mutation	SNP	ENST00000261884.3	37	c.1277A>G	CCDS10194.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.677625	0.88445	.	.	ENSG00000103671	ENST00000261884	.	.	.	5.46	5.46	0.80206	.	0.043068	0.85682	D	0.000000	T	0.59321	0.2185	L	0.50333	1.59	0.80722	D	1	D	0.58620	0.983	P	0.47299	0.543	T	0.63932	-0.6525	9	0.59425	D	0.04	-14.0178	15.816	0.78599	1.0:0.0:0.0:0.0	.	426	Q15650	TRIP4_HUMAN	G	426	.	ENSP00000261884:E426G	E	+	2	0	TRIP4	62497899	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.674000	0.91191	2.194000	0.70268	0.528000	0.53228	GAA		0.468	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256635.2	NM_016213		19	49	0	0	0	1	0	19	49				
ZNF252P	286101	broad.mit.edu	37	8	146220894	146220894	+	RNA	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:146220894G>A	ENST00000426361.2	-	0	245				RP5-1047A19.4_ENST00000530223.1_RNA	NR_023392.1				zinc finger protein 252, pseudogene											endometrium(1)	1						TCTTCTACCTGTGATGCTTCT	0.473																																						ENST00000426361.2																			0				endometrium(1)	1																																														286101							g.chr8:146220894G>A	BC019922		8q24.3	2012-10-05	2012-04-19	2012-04-19	ENSG00000196922	ENSG00000196922			13046	pseudogene	pseudogene			"""zinc finger protein 252"""	ZNF252			Standard	NR_023392		Approved		uc011llo.2		OTTHUMG00000165201		8.37:g.146220894G>A								NR_023392.1						0	245	-									RNA	SNP	ENST00000426361.2	37																																																																																						0.473	ZNF252P-008	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000451422.1	NR_023392		5	54	0	0	0	1	0	5	54				
TBC1D1	23216	broad.mit.edu	37	4	38016236	38016236	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:38016236T>A	ENST00000261439.4	+	3	879	c.524T>A	c.(523-525)gTg>gAg	p.V175E	TBC1D1_ENST00000508802.1_Missense_Mutation_p.V175E	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	175					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AAGTTCGAGGTGCTCTTCTGC	0.637																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(523-525)gTg>gAg		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							101.0	104.0	103.0					4																	38016236		2203	4299	6502	SO:0001583	missense	23216					nucleus	Rab GTPase activator activity	g.chr4:38016236T>A	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.524T>A	4.37:g.38016236T>A	ENSP00000261439:p.Val175Glu					TBC1D1_ENST00000508802.1_Missense_Mutation_p.V175E	p.V175E	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			3	879	+			175					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.524T>A	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.845365	0.71603	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803	T;T;T	0.24723	1.84;1.84;1.84	5.46	5.46	0.80206	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.000000	0.45126	D	0.000398	T	0.49355	0.1552	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.51403	-0.8710	10	0.87932	D	0	-26.0745	15.5252	0.75898	0.0:0.0:0.0:1.0	.	175;175;175	B9A6J6;E9PGH8;Q86TI0	.;.;TBCD1_HUMAN	E	175;175;46	ENSP00000423651:V175E;ENSP00000261439:V175E;ENSP00000396877:V46E	ENSP00000261439:V175E	V	+	2	0	TBC1D1	37692631	1.000000	0.71417	1.000000	0.80357	0.159000	0.22180	7.698000	0.84413	2.074000	0.62210	0.459000	0.35465	GTG		0.637	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		52	177	0	0	0	1	0	52	177				
KRTAP12-1	353332	broad.mit.edu	37	21	46101779	46101779	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:46101779G>T	ENST00000391617.1	-	1	299	c.260C>A	c.(259-261)cCc>cAc	p.P87H	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	87	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						GCAGGAGATGGGTCTGCAGAG	0.642																																						ENST00000391617.1																			0				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						c.(259-261)cCc>cAc		keratin associated protein 12-1							61.0	68.0	66.0					21																	46101779		2135	4231	6366	SO:0001583	missense	353332					keratin filament		g.chr21:46101779G>T	AJ566388	CCDS42966.1	21q22.3	2006-03-13			ENSG00000187175	ENSG00000187175		"""Keratin associated proteins"""	20529	protein-coding gene	gene with protein product							Standard	NM_181686		Approved	KRTAP12.1, KAP12.1	uc002zfv.3	P59990	OTTHUMG00000057639	ENST00000391617.1:c.260C>A	21.37:g.46101779G>T	ENSP00000375475:p.Pro87His					TSPEAR_ENST00000323084.4_Intron	p.P87H	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN			1	299	-			87			14 X 5 AA approximate repeats.		Q0VAS3	Missense_Mutation	SNP	ENST00000391617.1	37	c.260C>A	CCDS42966.1	.	.	.	.	.	.	.	.	.	.	g	11.41	1.630099	0.28978	.	.	ENSG00000187175	ENST00000391617	T	0.21734	1.99	3.59	3.59	0.41128	.	0.000000	0.32430	U	0.006103	T	0.34279	0.0892	.	.	.	0.33119	D	0.541572	D	0.62365	0.991	P	0.54312	0.748	T	0.54111	-0.8342	9	0.87932	D	0	.	13.0557	0.58980	0.0:0.0:1.0:0.0	.	87	P59990	KR121_HUMAN	H	87	ENSP00000375475:P87H	ENSP00000375475:P87H	P	-	2	0	KRTAP12-1	44926207	0.465000	0.25815	0.492000	0.27490	0.003000	0.03518	2.656000	0.46716	1.977000	0.57605	0.407000	0.27541	CCC		0.642	KRTAP12-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128043.1	NM_181686		4	115	1	0	0.150653	1	0.150988	4	115				
SEC16A	9919	broad.mit.edu	37	9	139371345	139371345	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:139371345C>T	ENST00000371706.3	-	1	222	c.189G>A	c.(187-189)gtG>gtA	p.V63V	SEC16A_ENST00000431893.2_Silent_p.V63V|SEC16A_ENST00000313050.7_Silent_p.V241V|SEC16A_ENST00000290037.6_Silent_p.V63V			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	63					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TGGCACAGGGCACCCCGCTGG	0.657																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(721-723)gtG>gtA		SEC16 homolog A (S. cerevisiae)							25.0	29.0	28.0					9																	139371345		2109	4217	6326	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139371345C>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.189G>A	9.37:g.139371345C>T						SEC16A_ENST00000431893.2_Silent_p.V63V|SEC16A_ENST00000371706.3_Silent_p.V63V|SEC16A_ENST00000290037.6_Silent_p.V63V	p.V241V	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	796	-		Myeloproliferative disorder(178;0.0511)	63					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37	c.723G>A																																																																																					0.657	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		12	28	0	0	0	1	0	12	28				
LCOR	84458	broad.mit.edu	37	10	98715513	98715513	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:98715513A>G	ENST00000371097.4	+	8	1682	c.1136A>G	c.(1135-1137)cAc>cGc	p.H379R	LCOR_ENST00000498444.1_Intron|LCOR_ENST00000356016.3_Missense_Mutation_p.H379R|LCOR_ENST00000540664.1_Missense_Mutation_p.H379R|LCOR_ENST00000371103.3_Missense_Mutation_p.H379R			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	379	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		GGGATTCCCCACAGTACACTG	0.428																																						ENST00000540664.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13						c.(1135-1137)cAc>cGc		ligand dependent nuclear receptor corepressor							63.0	65.0	64.0					10																	98715513		2202	4299	6501	SO:0001583	missense	84458							g.chr10:98715513A>G		CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.1136A>G	10.37:g.98715513A>G	ENSP00000360138:p.His379Arg					LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371103.3_Missense_Mutation_p.H379R|LCOR_ENST00000356016.3_Missense_Mutation_p.H379R|LCOR_ENST00000371097.4_Missense_Mutation_p.H379R	p.H379R	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1				Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)	8	1679	+		Colorectal(252;0.162)						D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	ENST00000371097.4	37	c.1136A>G	CCDS7451.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884363	0.51908	.	.	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	5.52	5.52	0.82312	Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Helix-turn-helix, Psq (1);	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.991	T	0.70941	-0.4735	9	0.87932	D	0	-3.7067	15.9405	0.79750	1.0:0.0:0.0:0.0	.	379;379	Q96JN0;Q96JN0-2	LCOR_HUMAN;.	R	379	.	ENSP00000348298:H379R	H	+	2	0	LCOR	98705503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.227000	0.72691	0.454000	0.30748	CAC		0.428	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			4	89	0	0	0	1	0	4	89				
CNTRL	11064	broad.mit.edu	37	9	123912683	123912683	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:123912683G>A	ENST00000373855.1	+	25	4145	c.3885G>A	c.(3883-3885)ggG>ggA	p.G1295G	CNTRL_ENST00000238341.5_Silent_p.G1295G|CNTRL_ENST00000373850.1_Silent_p.G743G|CNTRL_ENST00000373847.1_Silent_p.G743G			Q7Z7A1	CNTRL_HUMAN	centriolin	1295	Pro-rich.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TGGTGTATGGGCCTCCACCCC	0.547																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(3883-3885)ggG>ggA		centriolin							92.0	83.0	86.0					9																	123912683		2203	4300	6503	SO:0001819	synonymous_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123912683G>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.3885G>A	9.37:g.123912683G>A						CNTRL_ENST00000238341.5_Silent_p.G1295G|CNTRL_ENST00000373847.1_Silent_p.G743G|CNTRL_ENST00000373850.1_Silent_p.G743G	p.G1295G			Q7Z7A1	CNTRL_HUMAN			25	4145	+			1295			Pro-rich.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	c.3885G>A	CCDS35118.1																																																																																				0.547	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		28	78	0	0	0	1	0	28	78				
PPP1R26	9858	broad.mit.edu	37	9	138378335	138378335	+	Missense_Mutation	SNP	G	G	A	rs562336070		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:138378335G>A	ENST00000356818.2	+	4	2528	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	PPP1R26_ENST00000401470.3_Missense_Mutation_p.R660H|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R660H|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R660H|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R660H	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	660					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GGCGACACTCGCATGTCACAG	0.642																																						ENST00000356818.2																			0											c.(1978-1980)cGc>cAc		protein phosphatase 1, regulatory subunit 26							43.0	45.0	44.0					9																	138378335		2203	4300	6503	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138378335G>A	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1979G>A	9.37:g.138378335G>A	ENSP00000349274:p.Arg660His					PPP1R26_ENST00000605660.1_Missense_Mutation_p.R660H|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R660H|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R660H|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R660H	p.R660H	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	2528	+			660					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.1979G>A	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.097756	0.37048	.	.	ENSG00000196422	ENST00000356818	T	0.23147	1.92	5.1	-8.91	0.00778	.	4.630140	0.00166	N	0.000001	T	0.07279	0.0184	N	0.00926	-1.1	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.22591	-1.0212	10	0.13853	T	0.58	.	8.7976	0.34890	0.1706:0.403:0.4264:0.0	.	660	Q5T8A7	PPR26_HUMAN	H	660	ENSP00000349274:R660H	ENSP00000349274:R660H	R	+	2	0	KIAA0649	137518156	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.111000	0.03303	-2.565000	0.00471	-1.633000	0.00780	CGC		0.642	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		10	72	0	0	0	1	0	10	72				
CILP2	148113	broad.mit.edu	37	19	19651094	19651094	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:19651094T>C	ENST00000291495.5	+	3	330	c.245T>C	c.(244-246)tTc>tCc	p.F82S	CILP2_ENST00000586018.1_Missense_Mutation_p.F88S	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	82						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCCATCCGCTTCTACTACGGG	0.731																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(262-264)tTc>tCc		cartilage intermediate layer protein 2							16.0	17.0	17.0					19																	19651094		2181	4291	6472	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19651094T>C	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.245T>C	19.37:g.19651094T>C	ENSP00000291495:p.Phe82Ser					CILP2_ENST00000291495.4_Missense_Mutation_p.F82S	p.F88S			Q8IUL8	CILP2_HUMAN			3	365	+			82					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.263T>C	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.472174	0.84533	.	.	ENSG00000160161	ENST00000291495	T	0.15952	2.38	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	L	0.41710	1.295	0.44871	D	0.997881	D;D	0.89917	1.0;0.982	D;P	0.81914	0.995;0.856	T	0.03364	-1.1044	10	0.87932	D	0	-0.3216	11.3897	0.49806	0.0:0.0:0.0:1.0	.	82;82	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	S	82	ENSP00000291495:F82S	ENSP00000291495:F82S	F	+	2	0	CILP2	19512094	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.803000	0.62546	1.576000	0.49790	0.254000	0.18369	TTC		0.731	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		6	19	0	0	0	1	0	6	19				
LRRFIP2	9209	broad.mit.edu	37	3	37107713	37107713	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:37107713A>G	ENST00000336686.4	-	22	1647		c.e22+1		LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000421307.1_Splice_Site			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2						Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ATGCTAACATACCTCTCCCGT	0.458																																						ENST00000421307.1																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.e23+1		leucine rich repeat (in FLII) interacting protein 2							179.0	159.0	166.0					3																	37107713		2203	4300	6503	SO:0001630	splice_region_variant	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37107713A>G	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1566+1T>C	3.37:g.37107713A>G						LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000336686.4_Splice_Site|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421276.2_Intron		NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN			23	1989	-								A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Splice_Site	SNP	ENST00000336686.4	37		CCDS2664.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435369	0.83885	.	.	ENSG00000093167	ENST00000421307;ENST00000336686;ENST00000440742	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRRFIP2	37082717	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	8.739000	0.91574	2.371000	0.80710	0.533000	0.62120	.		0.458	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309	Intron	39	109	0	0	0	1	0	39	109				
RHOA	387	broad.mit.edu	37	3	49400019	49400019	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:49400019G>C	ENST00000418115.1	-	4	702	c.318C>G	c.(316-318)ttC>ttG	p.F106L	RHOA_ENST00000454011.2_Missense_Mutation_p.S66C|RHOA_ENST00000422781.1_Missense_Mutation_p.F106L|RHOA-IT1_ENST00000428083.1_RNA	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	106					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.F106L(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGTTGGGACAGAAATGCTTGA	0.443																																						ENST00000418115.1																			1	Substitution - Missense(1)	p.F106L(1)	cervix(1)	cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(316-318)ttC>ttG		ras homolog family member A	Atorvastatin(DB01076)|Simvastatin(DB00641)						117.0	107.0	110.0					3																	49400019		2203	4300	6503	SO:0001583	missense	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49400019G>C	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.318C>G	3.37:g.49400019G>C	ENSP00000400175:p.Phe106Leu					RHOA_ENST00000422781.1_Missense_Mutation_p.F106L|RHOA_ENST00000454011.2_Missense_Mutation_p.S66C	p.F106L	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	4	702	-			106					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.318C>G	CCDS2795.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.317561|5.317561	0.95682|0.95682	.|.	.|.	ENSG00000067560|ENSG00000067560	ENST00000418115;ENST00000422781;ENST00000445425|ENST00000454011	T;T;T|T	0.75821|0.24538	-0.97;-0.97;-0.97|1.85	6.07|6.07	6.07|6.07	0.98685|0.98685	Small GTP-binding protein domain (1);|.	0.051069|.	0.85682|.	D|.	0.000000|.	T|T	0.39886|0.39886	0.1095|0.1095	L|L	0.41027|0.41027	1.25|1.25	0.80722|0.80722	D|D	1|1	B|.	0.28055|.	0.199|.	P|.	0.46659|.	0.523|.	T|T	0.03717|0.03717	-1.1010|-1.1010	10|7	0.72032|0.87932	D|D	0.01|0	.|.	19.222|19.222	0.93801|0.93801	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	106|.	P61586|.	RHOA_HUMAN|.	L|C	106|66	ENSP00000400175:F106L;ENSP00000413587:F106L;ENSP00000408402:F106L|ENSP00000394483:S66C	ENSP00000400175:F106L|ENSP00000394483:S66C	F|S	-|-	3|2	2|0	RHOA|RHOA	49375023|49375023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.686000|5.686000	0.68211|0.68211	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.443	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		22	115	0	0	0	1	0	22	115				
TSHZ1	10194	broad.mit.edu	37	18	72997953	72997953	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:72997953C>T	ENST00000580243.1	+	2	939	c.591C>T	c.(589-591)taC>taT	p.Y197Y	TSHZ1_ENST00000322038.5_Silent_p.Y152Y			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	197					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		gctccggGTACGACTGGCACC	0.662																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(454-456)taC>taT		teashirt zinc finger homeobox 1							31.0	24.0	26.0					18																	72997953		2202	4299	6501	SO:0001819	synonymous_variant	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72997953C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.591C>T	18.37:g.72997953C>T						TSHZ1_ENST00000580243.1_Silent_p.Y197Y	p.Y152Y	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	1040	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	197			Ser-rich.		O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37	c.456C>T																																																																																					0.662	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		6	17	0	0	0	1	0	6	17				
MYH3	4621	broad.mit.edu	37	17	10549118	10549118	+	Silent	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:10549118C>G	ENST00000583535.1	-	12	1134	c.1047G>C	c.(1045-1047)ggG>ggC	p.G349G	MYH3_ENST00000226209.7_Silent_p.G349G	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	349	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCTTGTAGAGCCCAGATTTCT	0.572																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(1045-1047)ggG>ggC		myosin, heavy chain 3, skeletal muscle, embryonic							112.0	98.0	103.0					17																	10549118		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10549118C>G		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1047G>C	17.37:g.10549118C>G						MYH3_ENST00000226209.7_Silent_p.G349G	p.G349G	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			12	1134	-			349			Myosin head-like.		Q15492	Silent	SNP	ENST00000583535.1	37	c.1047G>C	CCDS11157.1																																																																																				0.572	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		19	70	0	0	0	1	0	19	70				
ITPRIP	85450	broad.mit.edu	37	10	106074457	106074457	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:106074457C>T	ENST00000337478.1	-	2	1524	c.1353G>A	c.(1351-1353)gcG>gcA	p.A451A	ITPRIP_ENST00000358187.2_Silent_p.A451A|ITPRIP_ENST00000278071.2_Silent_p.A451A|RP11-127L20.5_ENST00000472915.2_RNA	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	451						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CCAGCTGCCCCGCCTTCCAGT	0.642																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(1351-1353)gcG>gcA		inositol 1,4,5-trisphosphate receptor interacting protein							40.0	44.0	43.0					10																	106074457		2203	4300	6503	SO:0001819	synonymous_variant	85450					plasma membrane		g.chr10:106074457C>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1353G>A	10.37:g.106074457C>T						ITPRIP_ENST00000358187.2_Silent_p.A451A|ITPRIP_ENST00000337478.1_Silent_p.A451A	p.A451A	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	1805	-			451					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Silent	SNP	ENST00000337478.1	37	c.1353G>A	CCDS7557.1																																																																																				0.642	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		5	103	0	0	0	1	0	5	103				
ZNF608	57507	broad.mit.edu	37	5	123984603	123984603	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:123984603C>T	ENST00000306315.5	-	4	1909	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T	ZNF608_ENST00000504926.1_Missense_Mutation_p.A65T	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	492							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GAAGGGCTGGCTTTGATATCC	0.557																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1474-1476)Gcc>Acc		zinc finger protein 608							106.0	106.0	106.0					5																	123984603		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123984603C>T	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1474G>A	5.37:g.123984603C>T	ENSP00000307746:p.Ala492Thr					ZNF608_ENST00000504926.1_Missense_Mutation_p.A65T	p.A492T	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	1909	-		all_cancers(142;0.186)|Prostate(80;0.081)	492					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.1474G>A	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421157	0.83559	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.52057	0.68;0.68	5.26	5.26	0.73747	.	0.057395	0.64402	D	0.000002	T	0.43144	0.1234	L	0.43152	1.355	0.44685	D	0.997673	B	0.34290	0.447	B	0.33690	0.168	T	0.26087	-1.0113	10	0.25106	T	0.35	-11.8311	18.87	0.92309	0.0:1.0:0.0:0.0	.	492	Q9ULD9	ZN608_HUMAN	T	65;492;492;492	ENSP00000427657:A65T;ENSP00000307746:A492T	ENSP00000307746:A492T	A	-	1	0	ZNF608	124012502	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.491000	0.60326	2.456000	0.83038	0.544000	0.68410	GCC		0.557	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		28	95	0	0	0	1	0	28	95				
GPR161	23432	broad.mit.edu	37	1	168066456	168066456	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:168066456A>G	ENST00000367838.1	-	5	702	c.389T>C	c.(388-390)cTg>cCg	p.L130P	GPR161_ENST00000539777.1_Missense_Mutation_p.L52P|GPR161_ENST00000367836.1_5'UTR|GPR161_ENST00000271357.5_Missense_Mutation_p.L130P|GPR161_ENST00000361697.2_Missense_Mutation_p.L130P|GPR161_ENST00000537209.1_Missense_Mutation_p.L150P|GPR161_ENST00000367835.1_Missense_Mutation_p.L130P|GPR161_ENST00000546300.1_Missense_Mutation_p.L16P	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	130					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CATGGGGTACAGGACAGCATA	0.572																																						ENST00000367838.1																			0				breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26						c.(388-390)cTg>cCg		G protein-coupled receptor 161							65.0	59.0	61.0					1																	168066456		2203	4299	6502	SO:0001583	missense	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168066456A>G	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.389T>C	1.37:g.168066456A>G	ENSP00000356812:p.Leu130Pro					GPR161_ENST00000271357.5_Missense_Mutation_p.L130P|GPR161_ENST00000361697.2_Missense_Mutation_p.L130P|GPR161_ENST00000537209.1_Missense_Mutation_p.L150P|GPR161_ENST00000367836.1_5'UTR|GPR161_ENST00000546300.1_Missense_Mutation_p.L16P|GPR161_ENST00000367835.1_Missense_Mutation_p.L130P|GPR161_ENST00000539777.1_Missense_Mutation_p.L52P	p.L130P	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN			5	702	-	all_hematologic(923;0.215)		130					B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	c.389T>C	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896455	0.72639	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13;1.13;1.13	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54532	0.1864	M	0.71581	2.175	0.52501	D	0.999951	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.998;0.999	D;D;D;D;D;D	0.91635	0.993;0.995;0.999;0.991;0.935;0.99	T	0.59547	-0.7434	9	0.48119	T	0.1	-17.0272	14.6274	0.68632	1.0:0.0:0.0:0.0	.	150;16;52;150;130;130	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	P	130;130;130;16;52;150;130	ENSP00000356812:L130P;ENSP00000271357:L130P;ENSP00000356809:L130P;ENSP00000444348:L16P;ENSP00000437576:L52P;ENSP00000441039:L150P;ENSP00000355194:L130P	ENSP00000271357:L130P	L	-	2	0	GPR161	166333080	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.118000	0.94355	2.015000	0.59207	0.459000	0.35465	CTG		0.572	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		29	83	0	0	0	1	0	29	83				
COL27A1	85301	broad.mit.edu	37	9	116931125	116931125	+	Silent	SNP	G	G	A	rs201849595		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:116931125G>A	ENST00000356083.3	+	3	1681	c.1290G>A	c.(1288-1290)ccG>ccA	p.P430P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	430	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.P430P(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AGAGGAACCCGGGAATGCCCA	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		13388	0.001		0.0	False		,,,				2504	0.0					ENST00000356083.3																			1	Substitution - coding silent(1)	p.P430P(1)	lung(1)	central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(1288-1290)ccG>ccA		collagen, type XXVII, alpha 1							102.0	127.0	118.0					9																	116931125		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116931125G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1290G>A	9.37:g.116931125G>A							p.P430P	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			3	1681	+			430			Pro-rich.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.1290G>A	CCDS6802.1																																																																																				0.617	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		124	290	0	0	0	1	0	124	290				
RPL31	6160	broad.mit.edu	37	2	101620626	101620626	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:101620626C>A	ENST00000264258.3	+	3	715	c.114C>A	c.(112-114)ttC>ttA	p.F38L	RPL31_ENST00000409038.1_Missense_Mutation_p.F38L|RPL31_ENST00000409028.4_Missense_Mutation_p.F38L|RPL31_ENST00000409733.1_Missense_Mutation_p.F38L|RPL31_ENST00000409711.1_Missense_Mutation_p.F38L|AC016738.4_ENST00000452364.1_RNA|RPL31_ENST00000409320.3_Missense_Mutation_p.F38L|RPL31_ENST00000409650.1_Missense_Mutation_p.F38L|RPL31_ENST00000409000.1_Missense_Mutation_p.F38L	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31	38					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)|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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						GTAGGGGCTTCAAGAAGCGTG	0.448																																						ENST00000409711.1																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						c.(112-114)ttC>ttA		ribosomal protein L31							69.0	68.0	68.0					2																	101620626		2203	4300	6503	SO:0001583	missense	6160				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr2:101620626C>A	X15940	CCDS2049.1, CCDS46373.1, CCDS46374.1	2q11.2	2011-04-06			ENSG00000071082	ENSG00000071082		"""L ribosomal proteins"""	10334	protein-coding gene	gene with protein product						2780320, 11875025	Standard	NM_000993		Approved	L31	uc010fiu.1	P62899	OTTHUMG00000130687	ENST00000264258.3:c.114C>A	2.37:g.101620626C>A	ENSP00000264258:p.Phe38Leu					RPL31_ENST00000409650.1_Missense_Mutation_p.F38L|RPL31_ENST00000409038.1_Missense_Mutation_p.F38L|RPL31_ENST00000409320.3_Missense_Mutation_p.F38L|RPL31_ENST00000409000.1_Missense_Mutation_p.F38L|RPL31_ENST00000409028.4_Missense_Mutation_p.F38L|RPL31_ENST00000409733.1_Missense_Mutation_p.F38L|RPL31_ENST00000264258.3_Missense_Mutation_p.F38L	p.F38L			P62899	RL31_HUMAN			2	125	+			38					B7Z4K2|D3DVJ4|P12947|Q53SQ5|Q6IRZ0|Q6LBJ6	Missense_Mutation	SNP	ENST00000264258.3	37	c.114C>A	CCDS2049.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.012634|4.012634	0.75161|0.75161	.|.	.|.	ENSG00000071082|ENSG00000071082	ENST00000264258;ENST00000409000;ENST00000409028;ENST00000409320;ENST00000409733;ENST00000409650;ENST00000409038;ENST00000456292;ENST00000409711|ENST00000441435	.|.	.|.	.|.	4.15|4.15	3.27|3.27	0.37495|0.37495	Ribosomal protein L31e domain (2);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|.	0.77618|.	0.4157|.	M|M	0.88105|0.88105	2.93|2.93	0.54753|0.54753	D|D	0.999985|0.999985	B;D;P;B;P;B|.	0.55605|.	0.143;0.972;0.704;0.14;0.704;0.143|.	B;P;B;B;B;B|.	0.58454|.	0.22;0.839;0.42;0.169;0.42;0.146|.	T|.	0.80677|.	-0.1276|.	9|.	0.59425|.	D|.	0.04|.	.|.	12.0776|12.0776	0.53653|0.53653	0.0:0.9158:0.0:0.0841|0.0:0.9158:0.0:0.0841	.|.	38;38;38;38;38;38|.	B7Z4E3;B7Z4C8;B7Z4K2;B8ZZK4;Q6IRZ0;P62899|.	.;.;.;.;.;RL31_HUMAN|.	L|X	38|26	.|.	ENSP00000264258:F38L|.	F|S	+|+	3|2	2|0	RPL31|RPL31	100987058|100987058	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.395000|1.395000	0.34520|0.34520	1.098000|1.098000	0.41479|0.41479	0.609000|0.609000	0.83330|0.83330	TTC|TCA		0.448	RPL31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253182.3	NM_001098577		11	35	1	0	6.42651e-13	1	6.69979e-13	11	35				
TSHZ1	10194	broad.mit.edu	37	18	72999677	72999677	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:72999677C>T	ENST00000580243.1	+	2	2663	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V	TSHZ1_ENST00000322038.5_Missense_Mutation_p.A727V			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	772					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GACCCGCTGGCGATGCTGTAC	0.587																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(2179-2181)gCg>gTg		teashirt zinc finger homeobox 1							54.0	52.0	52.0					18																	72999677		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999677C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2315C>T	18.37:g.72999677C>T	ENSP00000464391:p.Ala772Val					TSHZ1_ENST00000580243.1_Missense_Mutation_p.A772V	p.A727V	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2764	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	772					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.2180C>T		.	.	.	.	.	.	.	.	.	.	C	12.12	1.843012	0.32606	.	.	ENSG00000179981	ENST00000322038	T	0.44881	0.91	5.26	5.26	0.73747	.	0.058282	0.64402	D	0.000002	T	0.52677	0.1749	M	0.67953	2.075	0.35619	D	0.809255	D	0.62365	0.991	P	0.49953	0.627	T	0.56823	-0.7915	10	0.62326	D	0.03	-33.9456	14.4812	0.67585	0.0:0.8532:0.1468:0.0	.	772	Q6ZSZ6	TSH1_HUMAN	V	727	ENSP00000323584:A727V	ENSP00000323584:A727V	A	+	2	0	TSHZ1	71128665	1.000000	0.71417	0.966000	0.40874	0.765000	0.43378	7.426000	0.80270	-0.782000	0.04541	-1.133000	0.01973	GCG		0.587	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		5	41	0	0	0	1	0	5	41				
RAG1	5896	broad.mit.edu	37	11	36597916	36597916	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:36597916C>A	ENST00000299440.5	+	2	3174	c.3062C>A	c.(3061-3063)cCt>cAt	p.P1021H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	1021					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ACCATGAACCCTCAGGCAAGC	0.428									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(3061-3063)cCt>cAt		recombination activating gene 1							57.0	57.0	57.0					11																	36597916		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597916C>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.3062C>A	11.37:g.36597916C>A	ENSP00000299440:p.Pro1021His						p.P1021H	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	3174	+	all_lung(20;0.226)	all_hematologic(20;0.107)	1021					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.3062C>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420915	0.42918	.	.	ENSG00000166349	ENST00000299440	T	0.72051	-0.62	5.52	4.61	0.57282	.	0.204925	0.42053	D	0.000764	T	0.53594	0.1806	N	0.22421	0.69	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47071	-0.9145	9	.	.	.	.	10.7417	0.46158	0.0:0.854:0.0:0.146	.	1021	P15918	RAG1_HUMAN	H	1021	ENSP00000299440:P1021H	.	P	+	2	0	RAG1	36554492	0.986000	0.35501	0.096000	0.21009	0.010000	0.07245	2.728000	0.47319	1.471000	0.48121	0.650000	0.86243	CCT		0.428	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		4	94	1	0	0.150653	1	0.150988	4	94				
MPST	4357	broad.mit.edu	37	22	37420635	37420635	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:37420635C>A	ENST00000397225.2	+	2	1294	c.379C>A	c.(379-381)Ctg>Atg	p.L127M	MPST_ENST00000429360.2_Missense_Mutation_p.L127M|MPST_ENST00000397129.1_Missense_Mutation_p.L147M|MPST_ENST00000401419.3_Missense_Mutation_p.L127M|MPST_ENST00000404393.1_Missense_Mutation_p.L127M|MPST_ENST00000341116.3_Missense_Mutation_p.L127M|MPST_ENST00000404802.3_Missense_Mutation_p.L127M			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	127	Rhodanese 1. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cyanate catabolic process (GO:0009440)|hydrogen sulfide biosynthetic process (GO:0070814)|response to toxic substance (GO:0009636)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|neuron projection (GO:0043005)|synapse (GO:0045202)	3-mercaptopyruvate sulfurtransferase activity (GO:0016784)|thiosulfate sulfurtransferase activity (GO:0004792)			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						CGCCGTGTCACTGCTTGATGG	0.701																																						ENST00000397225.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						c.(379-381)Ctg>Atg		mercaptopyruvate sulfurtransferase							11.0	11.0	11.0					22																	37420635		2183	4266	6449	SO:0001583	missense	4357				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity	g.chr22:37420635C>A	X59434	CCDS13939.1	22q13.1	2010-04-27			ENSG00000128309	ENSG00000128309	2.8.1.2		7223	protein-coding gene	gene with protein product	"""human liver rhodanese"""	602496				1953758	Standard	NM_021126		Approved	MST, TST2	uc011amu.3	P25325	OTTHUMG00000150543	ENST00000397225.2:c.379C>A	22.37:g.37420635C>A	ENSP00000380402:p.Leu127Met					MPST_ENST00000429360.2_Missense_Mutation_p.L127M|MPST_ENST00000401419.3_Missense_Mutation_p.L127M|MPST_ENST00000404802.3_Missense_Mutation_p.L127M|MPST_ENST00000341116.3_Missense_Mutation_p.L127M|MPST_ENST00000397129.1_Missense_Mutation_p.L147M|MPST_ENST00000404393.1_Missense_Mutation_p.L127M	p.L127M			P25325	THTM_HUMAN			2	1294	+			127			Rhodanese 1.		A8MZ34|B3KP52|J3KPV7|O75750|Q6FHN9	Missense_Mutation	SNP	ENST00000397225.2	37	c.379C>A	CCDS13939.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.624073	0.46840	.	.	ENSG00000128309	ENST00000401419;ENST00000397129;ENST00000404802;ENST00000341116;ENST00000429360;ENST00000404393;ENST00000397225;ENST00000446076	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.67	-1.68	0.08212	Rhodanese-like (5);	0.128672	0.51477	N	0.000083	T	0.41650	0.1168	M	0.78344	2.41	0.34088	D	0.660348	B;B;P;B;P	0.46621	0.429;0.429;0.813;0.429;0.881	P;P;P;P;P	0.59825	0.578;0.578;0.818;0.578;0.864	T	0.50668	-0.8801	10	0.87932	D	0	-10.1487	1.5658	0.02604	0.1189:0.3798:0.2312:0.2701	.	127;127;127;127;147	Q6FHN9;B3KP52;B1AH49;P25325;Q59HD5	.;.;.;THTM_HUMAN;.	M	127;147;127;127;127;127;127;127	ENSP00000384812:L127M;ENSP00000380318:L147M;ENSP00000383950:L127M;ENSP00000342333:L127M;ENSP00000411719:L127M;ENSP00000385062:L127M;ENSP00000380402:L127M	ENSP00000342333:L127M	L	+	1	2	MPST	35750581	0.193000	0.23313	0.039000	0.18376	0.356000	0.29392	0.522000	0.22909	-0.165000	0.10908	0.561000	0.74099	CTG		0.701	MPST-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318832.1	NM_001013440		6	20	1	0	0.00198382	1	0.00200201	6	20				
SLIT3	6586	broad.mit.edu	37	5	168244337	168244337	+	Missense_Mutation	SNP	G	G	A	rs148711550	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:168244337G>A	ENST00000519560.1	-	8	1180	c.761C>T	c.(760-762)gCg>gTg	p.A254V	SLIT3_ENST00000404867.3_Missense_Mutation_p.A254V|SLIT3_ENST00000332966.8_Missense_Mutation_p.A254V	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	254	LRRCT 1.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGCACATCCGCCACGTTGAA	0.592													G|||	2	0.000399361	0.0	0.0	5008	,	,		16831	0.001		0.001	False		,,,				2504	0.0				Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(760-762)gCg>gTg		slit homolog 3 (Drosophila)		G	VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	93.0	83.0	87.0		761	5.2	0.9	5	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLIT3	NM_003062.2	64	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	possibly-damaging	254/1524	168244337	4,13002	2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168244337G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.761C>T	5.37:g.168244337G>A	ENSP00000430333:p.Ala254Val					SLIT3_ENST00000404867.3_Missense_Mutation_p.A254V|SLIT3_ENST00000332966.8_Missense_Mutation_p.A254V	p.A254V	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1180	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	254			LRRCT 1.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.761C>T	CCDS4369.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	33	5.209070	0.95069	6.81E-4	1.16E-4	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.76060	-0.99;-0.99;-0.97	5.25	5.25	0.73442	Cysteine-rich flanking region, C-terminal (2);	0.099682	0.64402	D	0.000002	D	0.84047	0.5386	L	0.55103	1.725	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	P;D;D	0.77557	0.766;0.972;0.99	D	0.84903	0.0843	10	0.59425	D	0.04	.	18.8657	0.92292	0.0:0.0:1.0:0.0	.	254;254;254	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	V	254	ENSP00000430333:A254V;ENSP00000332164:A254V;ENSP00000384890:A254V	ENSP00000332164:A254V	A	-	2	0	SLIT3	168176915	1.000000	0.71417	0.853000	0.33588	0.883000	0.51084	8.018000	0.88722	2.459000	0.83118	0.462000	0.41574	GCG		0.592	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		18	57	0	0	0	1	0	18	57				
OR2T2	401992	broad.mit.edu	37	1	248616454	248616454	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:248616454T>C	ENST00000342927.3	+	1	378	c.356T>C	c.(355-357)aTg>aCg	p.M119T		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGGGTCTCATGGCCTATGAC	0.547																																						ENST00000342927.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(355-357)aTg>aCg		olfactory receptor, family 2, subfamily T, member 2							113.0	129.0	124.0					1																	248616454		2203	4298	6501	SO:0001583	missense	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616454T>C	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.356T>C	1.37:g.248616454T>C	ENSP00000343062:p.Met119Thr						p.M119T	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	378	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		119					B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	c.356T>C	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	t	12.34	1.910051	0.33721	.	.	ENSG00000196240	ENST00000342927	T	0.01145	5.27	3.59	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000016	T	0.10078	0.0247	H	0.96365	3.81	0.45439	D	0.998416	D	0.61697	0.99	D	0.68353	0.957	T	0.00878	-1.1530	10	0.87932	D	0	.	11.3223	0.49430	0.0:0.0:0.0:1.0	.	119	Q6IF00	OR2T2_HUMAN	T	119	ENSP00000343062:M119T	ENSP00000343062:M119T	M	+	2	0	OR2T2	246683077	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	7.157000	0.77461	1.498000	0.48600	0.248000	0.18094	ATG		0.547	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		8	211	0	0	0	1	0	8	211				
TYK2	7297	broad.mit.edu	37	19	10475301	10475301	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10475301G>A	ENST00000525621.1	-	9	1837	c.1356C>T	c.(1354-1356)caC>caT	p.H452H	TYK2_ENST00000264818.6_Silent_p.H452H|TYK2_ENST00000524462.1_Silent_p.H267H|TYK2_ENST00000529370.1_Silent_p.H452H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	452	SH2; atypical.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCAGGGGTCCGTGGATCCCAT	0.667																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1354-1356)caC>caT		tyrosine kinase 2							39.0	46.0	44.0					19																	10475301		2202	4300	6502	SO:0001819	synonymous_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10475301G>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.1356C>T	19.37:g.10475301G>A						TYK2_ENST00000524462.1_Silent_p.H267H|TYK2_ENST00000529370.1_Silent_p.H452H|TYK2_ENST00000264818.6_Silent_p.H452H	p.H452H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		9	1837	-			452			SH2; atypical.		Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	c.1356C>T	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	G	2.402	-0.337406	0.05278	.	.	ENSG00000105397	ENST00000525220	.	.	.	5.0	-5.48	0.02592	.	.	.	.	.	T	0.55016	0.1894	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59096	-0.7518	4	.	.	.	-40.8093	12.3552	0.55171	0.6194:0.0:0.3806:0.0	.	.	.	.	M	165	.	.	T	-	2	0	TYK2	10336301	0.000000	0.05858	0.143000	0.22291	0.363000	0.29612	-3.310000	0.00517	-0.671000	0.05274	-1.790000	0.00627	ACG		0.667	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			40	117	0	0	0	1	0	40	117				
THEMIS	387357	broad.mit.edu	37	6	128150963	128150963	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:128150963T>C	ENST00000368248.2	-	3	515	c.367A>G	c.(367-369)Ata>Gta	p.I123V	THEMIS_ENST00000543064.1_Missense_Mutation_p.I123V|THEMIS_ENST00000368250.1_Missense_Mutation_p.I44V|THEMIS_ENST00000537166.1_Missense_Mutation_p.I88V	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	123	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCTAGTTTTATATCCTTCTGA	0.408																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(130-132)Ata>Gta		thymocyte selection associated							106.0	106.0	106.0					6																	128150963		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128150963T>C	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.367A>G	6.37:g.128150963T>C	ENSP00000357231:p.Ile123Val					THEMIS_ENST00000368248.2_Missense_Mutation_p.I123V|THEMIS_ENST00000543064.1_Missense_Mutation_p.I123V|THEMIS_ENST00000537166.1_Missense_Mutation_p.I88V	p.I44V			Q8N1K5	THMS1_HUMAN			4	628	-			123			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.130A>G	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	T	12.61	1.991014	0.35131	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	6.14	1.13	0.20643	.	0.322034	0.37483	N	0.002061	T	0.03651	0.0104	L	0.61387	1.9	0.23820	N	0.99675	B;B	0.15141	0.012;0.003	B;B	0.16289	0.015;0.009	T	0.40059	-0.9583	10	0.41790	T	0.15	-3.4525	0.806	0.01084	0.2234:0.1852:0.1177:0.4737	.	123;123	F5H1J9;Q8N1K5	.;THMS1_HUMAN	V	44;123;123;88	ENSP00000357233:I44V;ENSP00000439594:I123V;ENSP00000357231:I123V;ENSP00000439863:I88V	ENSP00000357231:I123V	I	-	1	0	THEMIS	128192656	0.943000	0.32029	0.996000	0.52242	0.994000	0.84299	0.430000	0.21428	-0.019000	0.14055	0.529000	0.55759	ATA		0.408	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		15	57	0	0	0	1	0	15	57				
CRYAA	1409	broad.mit.edu	37	21	44589244	44589244	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:44589244G>A	ENST00000291554.2	+	1	127	c.35G>A	c.(34-36)cGc>cAc	p.R12H	CRYAA_ENST00000398132.1_5'Flank|CRYAA_ENST00000482775.1_3'UTR|CRYAA_ENST00000398133.1_5'Flank	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	12			R -> C (in CTRCT9). {ECO:0000269|PubMed:23508780}.		negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TGGTTCAAGCGCACCCTGGGG	0.632																																						ENST00000291554.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(34-36)cGc>cAc		crystallin, alpha A							92.0	95.0	94.0					21																	44589244		2203	4300	6503	SO:0001583	missense	1409				anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding	g.chr21:44589244G>A		CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"""Heat shock proteins / HSPB"""	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.35G>A	21.37:g.44589244G>A	ENSP00000291554:p.Arg12His					CRYAA_ENST00000482775.1_3'UTR	p.R12H	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN			1	127	+			12					Q53X53	Missense_Mutation	SNP	ENST00000291554.2	37	c.35G>A	CCDS13695.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249779	0.59212	.	.	ENSG00000160202	ENST00000291554	D	0.93953	-3.32	4.88	4.88	0.63580	Alpha-crystallin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95472	0.8529	M	0.88377	2.95	0.80722	D	1	P	0.36144	0.539	B	0.42692	0.395	D	0.96301	0.9221	10	0.72032	D	0.01	-18.2	18.0021	0.89200	0.0:0.0:1.0:0.0	.	12	P02489	CRYAA_HUMAN	H	12	ENSP00000291554:R12H	ENSP00000291554:R12H	R	+	2	0	CRYAA	43462313	1.000000	0.71417	0.882000	0.34594	0.433000	0.31745	8.858000	0.92256	2.256000	0.74724	0.609000	0.83330	CGC		0.632	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195562.1			39	101	0	0	0	1	0	39	101				
KCND2	3751	broad.mit.edu	37	7	119915308	119915308	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:119915308C>T	ENST00000331113.4	+	1	1587	c.622C>T	c.(622-624)Ccg>Tcg	p.P208S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	208					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GGAAACAGTGCCGTGCGGATC	0.552																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(622-624)Ccg>Tcg		potassium voltage-gated channel, Shal-related subfamily, member 2							112.0	103.0	106.0					7																	119915308		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915308C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.622C>T	7.37:g.119915308C>T	ENSP00000333496:p.Pro208Ser						p.P208S	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1587	+	all_neural(327;0.117)		208					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.622C>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242357	0.39598	.	.	ENSG00000184408	ENST00000331113	D	0.97598	-4.45	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97324	0.9125	M	0.86502	2.82	0.80722	D	1	B	0.33826	0.427	B	0.37601	0.254	D	0.96937	0.9685	9	.	.	.	.	19.5831	0.95478	0.0:1.0:0.0:0.0	.	208	Q9NZV8	KCND2_HUMAN	S	208	ENSP00000333496:P208S	.	P	+	1	0	KCND2	119702544	1.000000	0.71417	0.992000	0.48379	0.331000	0.28603	7.818000	0.86416	2.641000	0.89580	0.563000	0.77884	CCG		0.552	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		31	59	0	0	0	1	0	31	59				
ZNF721	170960	broad.mit.edu	37	4	437625	437625	+	Missense_Mutation	SNP	A	A	G	rs201712232		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:437625A>G	ENST00000338977.5	-	2	643	c.595T>C	c.(595-597)Tat>Cat	p.Y199H	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.Y211H|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	199					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(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ATTTTCTTATATTCATTCAGG	0.373																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(595-597)Tat>Cat		zinc finger protein 721							80.0	83.0	82.0					4																	437625		2046	4221	6267	SO:0001583	missense	170960							g.chr4:437625A>G	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.595T>C	4.37:g.437625A>G	ENSP00000340524:p.Tyr199His					ZNF721_ENST00000511833.2_Missense_Mutation_p.Y211H|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA	p.Y199H							2	643	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.595T>C		.	.	.	.	.	.	.	.	.	.	A	0.006	-2.079123	0.00375	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.00542	6.69;6.69	1.29	-2.58	0.06228	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00178	0.0005	N	0.00003	-3.43	0.09310	N	1	D;B;B	0.69078	0.997;0.017;0.014	D;B;B	0.79108	0.992;0.026;0.015	T	0.56896	-0.7903	9	0.02654	T	1	.	8.2337	0.31614	0.1893:0.0:0.8107:0.0	.	199;211;211	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	H	199;211	ENSP00000340524:Y199H;ENSP00000428878:Y211H	ENSP00000340524:Y199H	Y	-	1	0	ZNF721	427625	0.990000	0.36364	0.000000	0.03702	0.017000	0.09413	2.640000	0.46579	-1.205000	0.02645	-1.224000	0.01588	TAT		0.373	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		17	47	0	0	0	1	0	17	47				
CCDC77	84318	broad.mit.edu	37	12	547673	547673	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:547673T>C	ENST00000239830.4	+	10	1173	c.994T>C	c.(994-996)Ttg>Ctg	p.L332L	CCDC77_ENST00000422000.1_Silent_p.L300L|CCDC77_ENST00000412006.2_Silent_p.L300L|CCDC77_ENST00000540180.1_Silent_p.L300L	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	332						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TGGAAAAGTGTTGCCCGTTAT	0.348																																						ENST00000239830.4																			0				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(994-996)Ttg>Ctg		coiled-coil domain containing 77							115.0	121.0	119.0					12																	547673		2203	4300	6503	SO:0001819	synonymous_variant	84318					centrosome		g.chr12:547673T>C	AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.994T>C	12.37:g.547673T>C						CCDC77_ENST00000540180.1_Silent_p.L300L|CCDC77_ENST00000422000.1_Silent_p.L300L|CCDC77_ENST00000412006.2_Silent_p.L300L	p.L332L	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)		10	1173	+	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		332					B4DDE8	Silent	SNP	ENST00000239830.4	37	c.994T>C	CCDS8503.1																																																																																				0.348	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1	NM_032358		21	105	0	0	0	1	0	21	105				
MUC17	140453	broad.mit.edu	37	7	100675253	100675253	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100675253A>G	ENST00000306151.4	+	3	620	c.556A>G	c.(556-558)Aca>Gca	p.T186A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	186	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGATATGAGCACACCTCTGAC	0.428																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(556-558)Aca>Gca		mucin 17, cell surface associated							200.0	191.0	194.0					7																	100675253		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675253A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.556A>G	7.37:g.100675253A>G	ENSP00000302716:p.Thr186Ala						p.T186A	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	620	+	Lung NSC(181;0.136)|all_lung(186;0.182)		186			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.556A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.028	-0.682626	0.03353	.	.	ENSG00000169876	ENST00000306151	T	0.02258	4.37	0.435	-0.869	0.10649	.	.	.	.	.	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.47799	-0.9089	8	0.07990	T	0.79	.	.	.	.	.	186	Q685J3	MUC17_HUMAN	A	186	ENSP00000302716:T186A	ENSP00000302716:T186A	T	+	1	0	MUC17	100461973	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	0.708000	0.25719	-0.721000	0.04929	0.165000	0.16767	ACA		0.428	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		83	264	0	0	0	1	0	83	264				
HCN1	348980	broad.mit.edu	37	5	45462020	45462020	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:45462020A>G	ENST00000303230.4	-	3	996	c.939T>C	c.(937-939)ggT>ggC	p.G313G		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	313					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACTGAAGACAACCATCCCAGT	0.423																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(937-939)ggT>ggC		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							81.0	80.0	80.0					5																	45462020		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45462020A>G	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.939T>C	5.37:g.45462020A>G							p.G313G	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			3	996	-			313						Silent	SNP	ENST00000303230.4	37	c.939T>C	CCDS3952.1																																																																																				0.423	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		12	26	0	0	0	1	0	12	26				
LPA	4018	broad.mit.edu	37	6	160968927	160968927	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:160968927G>A	ENST00000316300.5	-	32	5242	c.5198C>T	c.(5197-5199)gCa>gTa	p.A1733V	LPA_ENST00000447678.1_Missense_Mutation_p.A1733V			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4241	Kringle 16. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AACAGTGGTTGCCTTCTTGCC	0.483																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(5197-5199)gCa>gTa		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						102.0	108.0	106.0					6																	160968927		2202	4300	6502	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160968927G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5198C>T	6.37:g.160968927G>A	ENSP00000321334:p.Ala1733Val					LPA_ENST00000316300.5_Missense_Mutation_p.A1733V	p.A1733V	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	33	5318	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4241			Kringle 16.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.5198C>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	12.93	2.086758	0.36855	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.63580	-0.05;-0.05	2.5	2.5	0.30297	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.71264	0.3319	M	0.85710	2.77	0.26240	N	0.978886	D	0.65815	0.995	D	0.78314	0.991	T	0.59402	-0.7461	9	0.66056	D	0.02	.	10.2434	0.43326	0.0:0.0:1.0:0.0	.	4241	P08519	APOA_HUMAN	V	1733	ENSP00000321334:A1733V;ENSP00000395608:A1733V	ENSP00000321334:A1733V	A	-	2	0	LPA	160888917	0.960000	0.32886	0.758000	0.31321	0.142000	0.21351	5.203000	0.65174	1.417000	0.47077	0.194000	0.17425	GCA		0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		21	125	0	0	0	1	0	21	125				
CIITA	4261	broad.mit.edu	37	16	11001615	11001615	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:11001615C>T	ENST00000324288.8	+	11	2399	c.2266C>T	c.(2266-2268)Cgc>Tgc	p.R756C	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	756					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GGGCGTGCCACGCTTTCTGGC	0.632			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(2266-2268)Cgc>Tgc		class II, major histocompatibility complex, transactivator							60.0	66.0	64.0					16																	11001615		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11001615C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2266C>T	16.37:g.11001615C>T	ENSP00000316328:p.Arg756Cys					CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	p.R756C	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			11	2399	+			756					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.2266C>T	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	9.125	1.009892	0.19277	.	.	ENSG00000179583	ENST00000324288;ENST00000388910	T	0.76578	-1.03	5.15	4.08	0.47627	.	0.237275	0.29995	N	0.010664	T	0.71651	0.3365	M	0.67953	2.075	0.80722	D	1	B;B;B;B	0.34161	0.312;0.11;0.439;0.269	B;B;B;B	0.31016	0.058;0.032;0.123;0.038	T	0.71354	-0.4618	10	0.72032	D	0.01	.	7.2576	0.26185	0.1611:0.7451:0.0:0.0938	.	756;756;708;756	A0N0N9;P33076;F2Z2G8;Q96KL4	.;C2TA_HUMAN;.;.	C	756;708	ENSP00000316328:R756C	ENSP00000316328:R756C	R	+	1	0	CIITA	10909116	0.376000	0.25098	0.806000	0.32338	0.266000	0.26442	0.680000	0.25306	0.998000	0.38996	0.655000	0.94253	CGC		0.632	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		37	114	0	0	0	1	0	37	114				
SLC19A1	6573	broad.mit.edu	37	21	46951392	46951392	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:46951392T>C	ENST00000311124.4	-	3	1012	c.860A>G	c.(859-861)tAc>tGc	p.Y287C	SLC19A1_ENST00000485649.2_Missense_Mutation_p.Y247C|SLC19A1_ENST00000380010.4_Missense_Mutation_p.Y287C|SLC19A1_ENST00000567670.1_Missense_Mutation_p.Y287C	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	287					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	GATGTGCACGTAGTAGACCAC	0.667																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(859-861)tAc>tGc		solute carrier family 19 (folate transporter), member 1							60.0	70.0	66.0					21																	46951392		2203	4300	6503	SO:0001583	missense	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46951392T>C	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.860A>G	21.37:g.46951392T>C	ENSP00000308895:p.Tyr287Cys					SLC19A1_ENST00000567670.1_Missense_Mutation_p.Y287C|SLC19A1_ENST00000485649.2_Missense_Mutation_p.Y247C|SLC19A1_ENST00000380010.4_Missense_Mutation_p.Y287C	p.Y287C	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	1012	-			287					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.860A>G	CCDS13725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.064959|4.064959	0.76187|0.76187	.|.	.|.	ENSG00000173638|ENSG00000173638	ENST00000417954|ENST00000380014;ENST00000311124;ENST00000380010;ENST00000485649	.|D;D;D	.|0.94138	.|-3.36;-3.36;-3.36	4.33|4.33	4.33|4.33	0.51752|0.51752	.|Major facilitator superfamily domain, general substrate transporter (1);	.|0.129691	.|0.53938	.|D	.|0.000051	D|D	0.97049|0.97049	0.9036|0.9036	M|M	0.90922|0.90922	3.16|3.16	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	.|0.87578	.|0.998;0.998;0.997;0.998	D|D	0.97692|0.97692	1.0179|1.0179	5|10	.|0.87932	.|D	.|0	-16.3993|-16.3993	12.6333|12.6333	0.56669|0.56669	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|247;309;287;287	.|B7Z8C3;D3DSM6;E9PFY4;P41440	.|.;.;.;S19A1_HUMAN	A|C	22|34;287;287;247	.|ENSP00000308895:Y287C;ENSP00000369347:Y287C;ENSP00000441772:Y247C	.|ENSP00000308895:Y287C	T|Y	-|-	1|2	0|0	SLC19A1|SLC19A1	45775820|45775820	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.937000|0.937000	0.57800|0.57800	7.170000|7.170000	0.77587|0.77587	1.735000|1.735000	0.51646|0.51646	0.260000|0.260000	0.18958|0.18958	ACG|TAC		0.667	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			18	161	0	0	0	1	0	18	161				
KCNK12	56660	broad.mit.edu	37	2	47748557	47748557	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:47748557T>C	ENST00000327876.4	-	2	1389	c.782A>G	c.(781-783)gAc>gGc	p.D261G	MSH2_ENST00000461394.1_Intron	NM_022055.1	NP_071338.1	Q9HB15	KCNKC_HUMAN	potassium channel, subfamily K, member 12	261						integral component of membrane (GO:0016021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.0?(2)|p.?(2)		NS(1)|endometrium(1)|lung(3)|ovary(1)	6		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCTCACCAGGTCCCCGAAGCC	0.632																																						ENST00000327876.3																			4	Whole gene deletion(2)|Unknown(2)	p.0?(2)|p.?(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)	NS(1)|endometrium(1)|lung(3)|ovary(1)	6						c.(781-783)gAc>gGc		potassium channel, subfamily K, member 12							40.0	39.0	39.0					2																	47748557		2203	4299	6502	SO:0001583	missense	56660					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr2:47748557T>C	AF287302	CCDS1835.1	2p16.3	2012-03-07			ENSG00000184261	ENSG00000184261		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6274	protein-coding gene	gene with protein product		607366				11060316	Standard	NM_022055		Approved	THIK-2, THIK2, K2p12.1	uc002rwb.3	Q9HB15	OTTHUMG00000129131	ENST00000327876.4:c.782A>G	2.37:g.47748557T>C	ENSP00000327611:p.Asp261Gly					MSH2_ENST00000461394.1_Intron	p.D261G	NM_022055.1	NP_071338.1	Q9HB15	KCNKC_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		2	1389	-		all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175)	261						Missense_Mutation	SNP	ENST00000327876.4	37	c.782A>G	CCDS1835.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.932567	0.73442	.	.	ENSG00000184261	ENST00000327876	T	0.44482	0.92	4.1	4.1	0.47936	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84437	0.0580	10	0.87932	D	0	.	13.2728	0.60170	0.0:0.0:0.0:1.0	.	261	Q9HB15	KCNKC_HUMAN	G	261	ENSP00000327611:D261G	ENSP00000327611:D261G	D	-	2	0	KCNK12	47602061	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	7.855000	0.86950	1.718000	0.51419	0.254000	0.18369	GAC		0.632	KCNK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251182.2	NM_022055		3	24	0	0	0	1	0	3	24				
CPNE2	221184	broad.mit.edu	37	16	57153532	57153532	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:57153532G>A	ENST00000535318.2	+	8	1012	c.651G>A	c.(649-651)ctG>ctA	p.L217L	CPNE2_ENST00000565874.1_Silent_p.L217L|CPNE2_ENST00000290776.8_Silent_p.L217L|CPNE2_ENST00000537605.1_Silent_p.L115L			Q96FN4	CPNE2_HUMAN	copine II	217	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TGGTGTCCCTGTGTGATGGGG	0.627																																						ENST00000535318.2																			0				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21						c.(649-651)ctG>ctA		copine II							74.0	62.0	66.0					16																	57153532		2198	4300	6498	SO:0001819	synonymous_variant	221184							g.chr16:57153532G>A		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.651G>A	16.37:g.57153532G>A						CPNE2_ENST00000537605.1_Silent_p.L115L|CPNE2_ENST00000290776.8_Silent_p.L217L|CPNE2_ENST00000565874.1_Silent_p.L217L	p.L217L			Q96FN4	CPNE2_HUMAN			8	1012	+		all_neural(199;0.224)	217			C2 2.		Q68D19|Q719H8|Q86XP9	Silent	SNP	ENST00000535318.2	37	c.651G>A	CCDS10774.1																																																																																				0.627	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		3	26	0	0	0	1	0	3	26				
KITLG	4254	broad.mit.edu	37	12	88910239	88910239	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:88910239T>C	ENST00000228280.5	-	5	574	c.392A>G	c.(391-393)gAa>gGa	p.E131G	KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000347404.5_Missense_Mutation_p.E131G|KITLG_ENST00000357116.4_Intron	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	131					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						GAGCCTGGGTTCTGGGCTCTT	0.343									Testicular Cancer, Familial Clustering of																													ENST00000347404.5																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						c.(391-393)gAa>gGa		KIT ligand							36.0	40.0	39.0					12																	88910239		2196	4288	6484	SO:0001583	missense	4254	Testicular Cancer, Familial Clustering of	Familial Cancer Database		cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding	g.chr12:88910239T>C	M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"""mast cell growth factor"", ""stem cell factor"", ""steel factor"", ""familial progressive hyperpigmentation 2"""	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.392A>G	12.37:g.88910239T>C	ENSP00000228280:p.Glu131Gly					KITLG_ENST00000228280.5_Missense_Mutation_p.E131G|KITLG_ENST00000357116.4_Intron|KITLG_ENST00000378535.4_5'UTR	p.E131G	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN			5	964	-			131					A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	SNP	ENST00000228280.5	37	c.392A>G	CCDS31868.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.656251	0.67586	.	.	ENSG00000049130	ENST00000378535;ENST00000228280;ENST00000347404	T;T	0.71817	-0.6;-0.6	4.96	3.76	0.43208	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.490840	0.24407	N	0.038785	T	0.69396	0.3106	L	0.45581	1.43	0.09310	N	1	D;D	0.55800	0.973;0.957	P;P	0.51918	0.557;0.684	T	0.60571	-0.7237	10	0.37606	T	0.19	-9.4505	10.336	0.43850	0.0:0.0:0.1643:0.8357	.	131;131	P21583-2;P21583	.;SCF_HUMAN	G	96;131;131	ENSP00000228280:E131G;ENSP00000054216:E131G	ENSP00000228280:E131G	E	-	2	0	KITLG	87434370	0.949000	0.32298	0.112000	0.21494	0.905000	0.53344	1.557000	0.36299	1.851000	0.53745	0.482000	0.46254	GAA		0.343	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406424.2	NM_003994		19	55	0	0	0	1	0	19	55				
RBMXL1	494115	broad.mit.edu	37	1	89448713	89448713	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:89448713T>C	ENST00000321792.5	-	2	1224	c.797A>G	c.(796-798)tAt>tGt	p.Y266C	CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.Y266C	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	266					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										ATCACGACCATATCCATCTCT	0.448																																						ENST00000399794.2																			0											c.(796-798)tAt>tGt		RNA binding motif protein, X-linked-like 1							219.0	199.0	206.0					1																	89448713		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89448713T>C	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.797A>G	1.37:g.89448713T>C	ENSP00000318415:p.Tyr266Cys					CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.Y266C	p.Y266C	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN			3	1512	-			266						Missense_Mutation	SNP	ENST00000321792.5	37	c.797A>G	CCDS716.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.216996	0.39201	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	D;D	0.83335	-1.71;-1.71	1.59	0.355	0.16069	.	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	M	0.61703	1.905	0.32455	N	0.544948	D	0.89917	1.0	D	0.91635	0.999	T	0.76035	-0.3106	10	0.66056	D	0.02	.	4.476	0.11739	0.0:0.2062:0.0:0.7938	.	266	Q96E39	RBMXL_HUMAN	C	266	ENSP00000318415:Y266C;ENSP00000446099:Y266C	ENSP00000318415:Y266C	Y	-	2	0	RBMXL1	89221301	0.998000	0.40836	0.940000	0.37924	0.946000	0.59487	0.967000	0.29344	-0.058000	0.13177	0.254000	0.18369	TAT		0.448	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		22	241	0	0	0	1	0	22	241				
PTCH2	8643	broad.mit.edu	37	1	45295429	45295429	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:45295429C>G	ENST00000372192.3	-	8	1070	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	PTCH2_ENST00000447098.2_Missense_Mutation_p.E314Q	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	314					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGCAGGGCCTCTGCCCTGGTG	0.592									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(940-942)Gag>Cag		patched 2							35.0	37.0	36.0					1																	45295429		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45295429C>G	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.940G>C	1.37:g.45295429C>G	ENSP00000361266:p.Glu314Gln					PTCH2_ENST00000372192.3_Missense_Mutation_p.E314Q	p.E314Q	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			8	951	-	Acute lymphoblastic leukemia(166;0.155)		314					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.940G>C	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860579	0.51482	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.93076	-3.15;-3.16	5.07	5.07	0.68467	.	0.000000	0.52532	D	0.000061	D	0.89556	0.6749	L	0.35288	1.05	0.80722	D	1	B;B	0.32893	0.389;0.264	B;B	0.35413	0.202;0.109	D	0.87237	0.2264	10	0.19590	T	0.45	-17.8504	17.2094	0.86927	0.0:1.0:0.0:0.0	.	314;314	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	Q	314	ENSP00000389703:E314Q;ENSP00000361266:E314Q	ENSP00000361266:E314Q	E	-	1	0	PTCH2	45068016	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.631000	0.61304	2.363000	0.80096	0.561000	0.74099	GAG		0.592	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		16	47	0	0	0	1	0	16	47				
OVGP1	5016	broad.mit.edu	37	1	111965594	111965594	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:111965594A>G	ENST00000369732.3	-	6	618	c.563T>C	c.(562-564)gTc>gCc	p.V188A	OVGP1_ENST00000540696.1_Missense_Mutation_p.V128A|OVGP1_ENST00000481495.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	188					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GATGTGTGGGACCCCAGAAAC	0.542																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(562-564)gTc>gCc		oviductal glycoprotein 1, 120kDa							178.0	170.0	173.0					1																	111965594		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111965594A>G	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.563T>C	1.37:g.111965594A>G	ENSP00000358747:p.Val188Ala					OVGP1_ENST00000540696.1_Missense_Mutation_p.V128A|OVGP1_ENST00000481495.1_5'UTR	p.V188A	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	6	618	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	188					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.563T>C	CCDS834.1	.	.	.	.	.	.	.	.	.	.	A	6.387	0.439524	0.12104	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000540696	T;T	0.05025	3.51;3.51	4.22	-1.47	0.08772	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.449576	0.24213	N	0.040503	T	0.00906	0.0030	N	0.01800	-0.715	0.09310	N	1	B;P	0.44877	0.036;0.845	B;P	0.48524	0.105;0.58	T	0.44636	-0.9315	10	0.30078	T	0.28	-1.5044	3.3403	0.07116	0.3089:0.0:0.2538:0.4374	.	188;252	Q12889;Q59HH5	OVGP1_HUMAN;.	A	188;252;128	ENSP00000358747:V188A;ENSP00000438449:V128A	ENSP00000358743:V252A	V	-	2	0	OVGP1	111767117	0.000000	0.05858	0.129000	0.21949	0.246000	0.25737	-0.347000	0.07750	-0.092000	0.12417	0.482000	0.46254	GTC		0.542	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		24	334	0	0	0	1	0	24	334				
CES1	1066	broad.mit.edu	37	16	55846878	55846878	+	Silent	SNP	A	A	G	rs576295379	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:55846878A>G	ENST00000361503.4	-	9	1150	c.1020T>C	c.(1018-1020)aaT>aaC	p.N340N	CES1_ENST00000360526.3_Silent_p.N341N|CES1_ENST00000422046.2_Silent_p.N340N			P23141	EST1_HUMAN	carboxylesterase 1	340					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CAGTGTGGAAATTCCTTTCAG	0.512																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(1018-1020)aaT>aaC		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						141.0	131.0	134.0					16																	55846878		2198	4300	6498	SO:0001819	synonymous_variant	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55846878A>G	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.1020T>C	16.37:g.55846878A>G						CES1_ENST00000361503.4_Silent_p.N340N|CES1_ENST00000360526.3_Silent_p.N341N	p.N340N			P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	9	1301	-			340					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Silent	SNP	ENST00000361503.4	37	c.1020T>C	CCDS45488.1																																																																																				0.512	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		36	79	0	0	0	1	0	36	79				
CNKSR3	154043	broad.mit.edu	37	6	154763422	154763422	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:154763422A>G	ENST00000607772.1	-	3	763	c.219T>C	c.(217-219)aaT>aaC	p.N73N	CNKSR3_ENST00000479339.1_5'UTR	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	73					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CGAGGCCATAATTCTGTGGAA	0.423																																						ENST00000607772.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(217-219)aaT>aaC		CNKSR family member 3							62.0	68.0	66.0					6																	154763422		2203	4300	6503	SO:0001819	synonymous_variant	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154763422A>G	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.219T>C	6.37:g.154763422A>G						CNKSR3_ENST00000479339.1_5'UTR	p.N73N	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	3	763	-		Ovarian(120;0.196)	73					Q5SGD5|Q96N65	Silent	SNP	ENST00000607772.1	37	c.219T>C	CCDS5246.1																																																																																				0.423	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		33	85	0	0	0	1	0	33	85				
FAP	2191	broad.mit.edu	37	2	163057115	163057115	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:163057115T>C	ENST00000188790.4	-	15	1445	c.1238A>G	c.(1237-1239)aAt>aGt	p.N413S	FAP_ENST00000443424.1_Missense_Mutation_p.N388S	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TTCAAATTCATTGCTAGAATA	0.234																																						ENST00000188790.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(1237-1239)aAt>aGt		fibroblast activation protein, alpha							32.0	34.0	34.0					2																	163057115		2193	4269	6462	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163057115T>C	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1238A>G	2.37:g.163057115T>C	ENSP00000188790:p.Asn413Ser					FAP_ENST00000443424.1_Missense_Mutation_p.N388S	p.N413S	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			15	1445	-			413						Missense_Mutation	SNP	ENST00000188790.4	37	c.1238A>G	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	T	19.73	3.882814	0.72410	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.29142	1.58;1.58	5.1	5.1	0.69264	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	M	0.81239	2.535	0.52099	D	0.99994	B;P	0.44986	0.161;0.847	B;P	0.48425	0.314;0.577	T	0.43877	-0.9364	10	0.09084	T	0.74	23.8891	15.1719	0.72881	0.0:0.0:0.0:1.0	.	388;413	B4DLR2;Q12884	.;SEPR_HUMAN	S	413;388	ENSP00000188790:N413S;ENSP00000411391:N388S	ENSP00000188790:N413S	N	-	2	0	FAP	162765361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.131000	0.64751	2.043000	0.60533	0.528000	0.53228	AAT		0.234	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			9	18	0	0	0	1	0	9	18				
CARM1	10498	broad.mit.edu	37	19	11022950	11022950	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11022950A>G	ENST00000327064.4	+	5	839	c.649A>G	c.(649-651)Acc>Gcc	p.T217A	CARM1_ENST00000344150.4_Missense_Mutation_p.T217A	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	217	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GGAGGCCAGCACCATGGCCCA	0.632																																						ENST00000327064.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(649-651)Acc>Gcc		coactivator-associated arginine methyltransferase 1							178.0	151.0	160.0					19																	11022950		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022950A>G	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.649A>G	19.37:g.11022950A>G	ENSP00000325690:p.Thr217Ala					CARM1_ENST00000344150.4_Missense_Mutation_p.T217A	p.T217A	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			5	839	+			217					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.649A>G	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	A	17.78	3.474526	0.63737	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.20200	2.09;2.09	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	L	0.28344	0.845	0.58432	D	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.02743	-1.1116	10	0.46703	T	0.11	-7.1008	14.0459	0.64704	1.0:0.0:0.0:0.0	.	217	Q86X55	CARM1_HUMAN	A	217	ENSP00000325690:T217A;ENSP00000340934:T217A	ENSP00000325690:T217A	T	+	1	0	CARM1	10883950	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.846000	0.75399	1.961000	0.56991	0.533000	0.62120	ACC		0.632	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		7	275	0	0	0	1	0	7	275				
COPS4	51138	broad.mit.edu	37	4	83978433	83978433	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:83978433A>T	ENST00000264389.2	+	6	722	c.587A>T	c.(586-588)gAt>gTt	p.D196V	COPS4_ENST00000509093.1_Missense_Mutation_p.D196V|COPS4_ENST00000503682.1_Missense_Mutation_p.D196V|COPS4_ENST00000511653.1_Missense_Mutation_p.D196V	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	196					cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				CGTGTTCTTGATTATAGAAGA	0.348																																						ENST00000509093.1																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13						c.(586-588)gAt>gTt		COP9 signalosome subunit 4							71.0	69.0	70.0					4																	83978433		2203	4300	6503	SO:0001583	missense	51138				cullin deneddylation	cytoplasm|signalosome	protein binding	g.chr4:83978433A>T	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4"", ""COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"""			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.587A>T	4.37:g.83978433A>T	ENSP00000264389:p.Asp196Val					COPS4_ENST00000503682.1_Missense_Mutation_p.D196V|COPS4_ENST00000264389.2_Missense_Mutation_p.D196V|COPS4_ENST00000511653.1_Missense_Mutation_p.D196V	p.D196V	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN			6	1365	+		Hepatocellular(203;0.114)	196					B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Missense_Mutation	SNP	ENST00000264389.2	37	c.587A>T	CCDS3600.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.598388	0.87055	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000509317;ENST00000503682;ENST00000511653	T;T;T;T;T	0.57907	0.46;0.58;0.66;0.37;0.53	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.79545	0.4464	M	0.93150	3.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;0.998;0.999;1.0	D	0.84352	0.0533	10	0.52906	T	0.07	-16.1822	15.7338	0.77827	1.0:0.0:0.0:0.0	.	196;196;196;196	B3KST5;D6RFN0;D6RAX7;Q9BT78	.;.;.;CSN4_HUMAN	V	196;196;84;196;196	ENSP00000425976:D196V;ENSP00000264389:D196V;ENSP00000425486:D84V;ENSP00000424791:D196V;ENSP00000424655:D196V	ENSP00000264389:D196V	D	+	2	0	COPS4	84197457	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.869000	0.92326	2.120000	0.65058	0.383000	0.25322	GAT		0.348	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1			6	73	0	0	0	1	0	6	73				
SLC25A13	10165	broad.mit.edu	37	7	95799391	95799391	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:95799391A>G	ENST00000265631.5	-	13	1413	c.1277T>C	c.(1276-1278)gTc>gCc	p.V426A	SLC25A13_ENST00000542654.1_Missense_Mutation_p.V318A|SLC25A13_ENST00000416240.2_Missense_Mutation_p.V427A			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	426					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TGCAAGTGGGACCGAACCATC	0.353																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(1279-1281)gTc>gCc		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						117.0	121.0	120.0					7																	95799391		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95799391A>G	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1277T>C	7.37:g.95799391A>G	ENSP00000265631:p.Val426Ala					SLC25A13_ENST00000542654.1_Missense_Mutation_p.V318A|SLC25A13_ENST00000265631.5_Missense_Mutation_p.V426A	p.V427A	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		13	1470	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		426					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.1280T>C	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.462851	0.63513	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.78003	-1.14;-1.14;-1.14	4.92	4.92	0.64577	Mitochondrial carrier domain (2);	0.224693	0.36519	N	0.002558	T	0.70090	0.3184	N	0.21282	0.65	0.44531	D	0.997487	B;B;B	0.29955	0.222;0.263;0.263	B;B;B	0.36092	0.138;0.217;0.217	T	0.72659	-0.4226	10	0.72032	D	0.01	-10.0449	15.0347	0.71734	1.0:0.0:0.0:0.0	.	318;427;426	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	A	426;427;318	ENSP00000265631:V426A;ENSP00000400101:V427A;ENSP00000440484:V318A	ENSP00000265631:V426A	V	-	2	0	SLC25A13	95637327	1.000000	0.71417	0.982000	0.44146	0.988000	0.76386	7.781000	0.85668	2.204000	0.70986	0.383000	0.25322	GTC		0.353	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		35	139	0	0	0	1	0	35	139				
CSMD1	64478	broad.mit.edu	37	8	2813199	2813199	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:2813199G>A	ENST00000520002.1	-	65	10464	c.9909C>T	c.(9907-9909)tgC>tgT	p.C3303C	CSMD1_ENST00000537824.1_Silent_p.C3302C|CSMD1_ENST00000400186.3_Silent_p.C3126C|CSMD1_ENST00000602723.1_Silent_p.C3126C|CSMD1_ENST00000542608.1_Silent_p.C3125C|CSMD1_ENST00000602557.1_Silent_p.C3303C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3303	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGCCTGGATGGCAGGTGTACA	0.502																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(9907-9909)tgC>tgT		CUB and Sushi multiple domains 1							142.0	138.0	140.0					8																	2813199		1964	4166	6130	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2813199G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9909C>T	8.37:g.2813199G>A						CSMD1_ENST00000602557.1_Silent_p.C3303C|CSMD1_ENST00000602723.1_Silent_p.C3126C|CSMD1_ENST00000542608.1_Silent_p.C3125C|CSMD1_ENST00000537824.1_Silent_p.C3302C|CSMD1_ENST00000400186.3_Silent_p.C3126C	p.C3303C			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	65	10464	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3303			Sushi 28.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.9909C>T		.	.	.	.	.	.	.	.	.	.	G	4.882	0.163966	0.09287	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.64	3.58	0.41010	.	.	.	.	.	T	0.55673	0.1935	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52208	-0.8606	4	.	.	.	.	6.7623	0.23548	0.3539:0.0:0.6461:0.0	.	.	.	.	S	2720	.	.	P	-	1	0	CSMD1	2800606	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	1.107000	0.31110	1.355000	0.45865	0.460000	0.39030	CCA		0.502	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		53	113	0	0	0	1	0	53	113				
DIRAS3	9077	broad.mit.edu	37	1	68512579	68512579	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:68512579G>A	ENST00000370981.1	-	4	1038	c.402C>T	c.(400-402)atC>atT	p.I134I	GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.I134I			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	134					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGATCTTGCAGATCAGCTCAT	0.547																																						ENST00000370981.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(400-402)atC>atT		DIRAS family, GTP-binding RAS-like 3							116.0	119.0	118.0					1																	68512579		2203	4300	6503	SO:0001819	synonymous_variant	9077				regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:68512579G>A	U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.402C>T	1.37:g.68512579G>A						GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.I134I	p.I134I			O95661	DIRA3_HUMAN			4	1038	-			134					B3KMP3	Silent	SNP	ENST00000370981.1	37	c.402C>T	CCDS641.1																																																																																				0.547	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2	NM_004675		45	192	0	0	0	1	0	45	192				
ABCD2	225	broad.mit.edu	37	12	40012818	40012818	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:40012818A>G	ENST00000308666.3	-	1	735	c.600T>C	c.(598-600)gaT>gaC	p.D200D		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	200	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CCAGCCTCCCATCCATATTGA	0.413																																						ENST00000308666.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(598-600)gaT>gaC		ATP-binding cassette, sub-family D (ALD), member 2							110.0	105.0	107.0					12																	40012818		2203	4300	6503	SO:0001819	synonymous_variant	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40012818A>G	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.600T>C	12.37:g.40012818A>G							p.D200D	NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN			1	735	-			200			ABC transmembrane type-1.|Interaction with PEX19.		B2RAM3|Q13210|Q2M3H9	Silent	SNP	ENST00000308666.3	37	c.600T>C	CCDS8734.1																																																																																				0.413	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		18	138	0	0	0	1	0	18	138				
ASF1B	55723	broad.mit.edu	37	19	14231467	14231467	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:14231467T>C	ENST00000263382.3	-	4	912	c.413A>G	c.(412-414)aAc>aGc	p.N138S	PRKACA_ENST00000590853.1_5'Flank|PRKACA_ENST00000308677.4_5'Flank|CTB-55O6.10_ENST00000590715.1_RNA|ASF1B_ENST00000592798.1_Missense_Mutation_p.N79S	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	138	Interaction with CHAF1B.|Interaction with histone H3. {ECO:0000250}.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						GGCCAAGATGTTCCGCTGGAG	0.607																																						ENST00000263382.3																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(412-414)aAc>aGc		anti-silencing function 1B histone chaperone							63.0	54.0	57.0					19																	14231467		2203	4300	6503	SO:0001583	missense	55723				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus		g.chr19:14231467T>C	AF279307	CCDS12306.1	19p13.12	2013-05-01	2013-05-01		ENSG00000105011	ENSG00000105011			20996	protein-coding gene	gene with protein product		609190	"""ASF1 anti-silencing function 1 homolog B (S. cerevisiae)"""			11897662, 11470414	Standard	NM_018154		Approved	FLJ10604	uc002mye.3	Q9NVP2	OTTHUMG00000150401	ENST00000263382.3:c.413A>G	19.37:g.14231467T>C	ENSP00000263382:p.Asn138Ser					ASF1B_ENST00000592798.1_Missense_Mutation_p.N79S	p.N138S	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN			4	912	-			138			Interaction with CHAF1B.|Interaction with histone H3 (By similarity).		Q53G51|Q9NVZ0	Missense_Mutation	SNP	ENST00000263382.3	37	c.413A>G	CCDS12306.1	.	.	.	.	.	.	.	.	.	.	T	19.34	3.809381	0.70797	.	.	ENSG00000105011	ENST00000263382	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.78997	0.4372	M	0.79123	2.44	0.80722	D	1	D	0.57257	0.979	D	0.76071	0.987	T	0.80797	-0.1222	9	0.56958	D	0.05	.	14.107	0.65096	0.0:0.0:0.0:1.0	.	138	Q9NVP2	ASF1B_HUMAN	S	138	.	ENSP00000263382:N138S	N	-	2	0	ASF1B	14092467	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.680000	0.84062	2.209000	0.71365	0.533000	0.62120	AAC		0.607	ASF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317946.1	NM_018154		6	49	0	0	0	1	0	6	49				
HSPA8	3312	broad.mit.edu	37	11	122928453	122928453	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:122928453C>G	ENST00000532636.1	-	9	2049	c.1930G>C	c.(1930-1932)Gag>Cag	p.E644Q	HSPA8_ENST00000453788.2_Missense_Mutation_p.E491Q|HSPA8_ENST00000534624.1_Missense_Mutation_p.E644Q|HSPA8_ENST00000533540.1_Missense_Mutation_p.E498Q|HSPA8_ENST00000526110.1_Missense_Mutation_p.E625Q|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.E644Q|SNORD14C_ENST00000365382.1_RNA|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.E408Q			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	644					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TAATCAACCTCTTCAATGGTG	0.483																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1930-1932)Gag>Cag		heat shock 70kDa protein 8							65.0	68.0	67.0					11																	122928453		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122928453C>G	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1930G>C	11.37:g.122928453C>G	ENSP00000437125:p.Glu644Gln					HSPA8_ENST00000453788.2_Missense_Mutation_p.E491Q|HSPA8_ENST00000227378.3_Missense_Mutation_p.E644Q|HSPA8_ENST00000526110.1_Missense_Mutation_p.E625Q|HSPA8_ENST00000534319.1_Missense_Mutation_p.E408Q|HSPA8_ENST00000533540.1_Missense_Mutation_p.E498Q|HSPA8_ENST00000532636.1_Missense_Mutation_p.E644Q	p.E644Q	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	9	2206	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	644					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1930G>C	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092820	0.76756	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110	T;T;T;T;T;T;T	0.09445	5.04;4.42;5.04;2.98;5.04;3.99;5.08	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	H	0.96489	3.83	0.80722	D	1	P;P;P	0.42039	0.659;0.769;0.659	B;P;P	0.55391	0.403;0.607;0.775	T	0.61926	-0.6962	10	0.87932	D	0	-16.0469	17.8802	0.88838	0.0:1.0:0.0:0.0	.	644;491;644	Q53GZ6;P11142-2;P11142	.;.;HSP7C_HUMAN	Q	644;498;644;491;644;408;625	ENSP00000437125:E644Q;ENSP00000437189:E498Q;ENSP00000432083:E644Q;ENSP00000404372:E491Q;ENSP00000227378:E644Q;ENSP00000433316:E408Q;ENSP00000433584:E625Q	ENSP00000227378:E644Q	E	-	1	0	HSPA8	122433663	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.815000	0.86186	2.285000	0.76669	0.561000	0.74099	GAG		0.483	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			21	88	0	0	0	1	0	21	88				
FZD9	8326	broad.mit.edu	37	7	72849113	72849113	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:72849113G>A	ENST00000344575.3	+	1	1005	c.776G>A	c.(775-777)cGc>cAc	p.R259H		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	259					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GAGCCCCACCGCTTCCAGTAC	0.637																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(775-777)cGc>cAc		frizzled family receptor 9							120.0	122.0	121.0					7																	72849113		2203	4300	6503	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849113G>A	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.776G>A	7.37:g.72849113G>A	ENSP00000345785:p.Arg259His						p.R259H	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1005	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	259						Missense_Mutation	SNP	ENST00000344575.3	37	c.776G>A	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211149	0.79240	.	.	ENSG00000188763	ENST00000344575	D	0.84516	-1.86	3.89	3.89	0.44902	GPCR, family 2-like (1);	0.000000	0.85682	U	0.000000	D	0.94604	0.8261	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96412	0.9305	10	0.87932	D	0	.	15.2128	0.73238	0.0:0.0:1.0:0.0	.	259	O00144	FZD9_HUMAN	H	259	ENSP00000345785:R259H	ENSP00000345785:R259H	R	+	2	0	FZD9	72487049	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.806000	0.99153	1.891000	0.54761	0.411000	0.27672	CGC		0.637	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			5	234	0	0	0	1	0	5	234				
CNPY4	245812	broad.mit.edu	37	7	99722182	99722182	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:99722182T>C	ENST00000262932.3	+	5	643	c.511T>C	c.(511-513)Tac>Cac	p.Y171H	RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR|MBLAC1_ENST00000398075.2_5'Flank	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	171	Glu-rich.					extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGAGACTGGTACTTCCACCA	0.507																																						ENST00000262932.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(511-513)Tac>Cac		canopy FGF signaling regulator 4							104.0	103.0	104.0					7																	99722182		2203	4300	6503	SO:0001583	missense	245812					extracellular region		g.chr7:99722182T>C	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"""protein associated with TLR4"""	610047	"""canopy 4 homolog (zebrafish)"""			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.511T>C	7.37:g.99722182T>C	ENSP00000262932:p.Tyr171His					CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	p.Y171H	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN			5	643	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		171			Glu-rich.		Q8WUN9	Missense_Mutation	SNP	ENST00000262932.3	37	c.511T>C	CCDS34701.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.712243	0.89112	.	.	ENSG00000166997	ENST00000262932	T	0.39056	1.1	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.67524	0.2902	M	0.84683	2.71	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	T	0.73033	-0.4110	10	0.87932	D	0	-9.9545	12.7897	0.57526	0.0:0.0:0.0:1.0	.	171	Q8N129	CNPY4_HUMAN	H	171	ENSP00000262932:Y171H	ENSP00000262932:Y171H	Y	+	1	0	CNPY4	99560118	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.430000	0.73391	2.279000	0.76181	0.459000	0.35465	TAC		0.507	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		27	77	0	0	0	1	0	27	77				
GTF2F1	2962	broad.mit.edu	37	19	6380415	6380415	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:6380415G>A	ENST00000394456.5	-	13	1895	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	PSPN_ENST00000597721.1_5'Flank|GTF2F1_ENST00000429701.2_Silent_p.F392F	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	477					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|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)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						TCTTGGTCTGGAACTTTTTCA	0.577																																						ENST00000394456.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						c.(1429-1431)ttC>ttT		general transcription factor IIF, polypeptide 1, 74kDa							201.0	190.0	194.0					19																	6380415		2203	4300	6503	SO:0001819	synonymous_variant	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6380415G>A		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.1431C>T	19.37:g.6380415G>A						GTF2F1_ENST00000429701.2_Silent_p.F392F	p.F477F	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN			13	1895	-			477					B2RCS0|Q9BWN0	Silent	SNP	ENST00000394456.5	37	c.1431C>T	CCDS12165.1																																																																																				0.577	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		5	260	0	0	0	1	0	5	260				
DOPEY1	23033	broad.mit.edu	37	6	83810446	83810446	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:83810446A>G	ENST00000349129.2	+	4	421	c.161A>G	c.(160-162)tAc>tGc	p.Y54C	DOPEY1_ENST00000369739.3_Missense_Mutation_p.Y54C|DOPEY1_ENST00000536812.1_Missense_Mutation_p.Y54C|DOPEY1_ENST00000237163.5_Missense_Mutation_p.Y54C	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	54					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AATGCAAAGTACCAAGTAGTA	0.358																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(160-162)tAc>tGc		dopey family member 1							125.0	130.0	128.0					6																	83810446		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83810446A>G	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.161A>G	6.37:g.83810446A>G	ENSP00000195654:p.Tyr54Cys					DOPEY1_ENST00000237163.5_Missense_Mutation_p.Y54C|DOPEY1_ENST00000536812.1_Missense_Mutation_p.Y54C|DOPEY1_ENST00000369739.3_Missense_Mutation_p.Y54C	p.Y54C	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	4	421	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	54					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.161A>G	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	A	19.73	3.881286	0.72294	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000536812;ENST00000369739	T;T;T	0.26518	1.75;1.74;1.73	5.32	5.32	0.75619	Dopey, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.40196	0.1107	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.31081	-0.9956	10	0.59425	D	0.04	.	15.5609	0.76244	1.0:0.0:0.0:0.0	.	54;54;54	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	C	54	ENSP00000195654:Y54C;ENSP00000237163:Y54C;ENSP00000358754:Y54C	ENSP00000237163:Y54C	Y	+	2	0	DOPEY1	83867165	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.846000	0.92159	2.135000	0.66039	0.482000	0.46254	TAC		0.358	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		45	151	0	0	0	1	0	45	151				
NT5DC3	51559	broad.mit.edu	37	12	104186974	104186974	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:104186974A>G	ENST00000392876.3	-	9	1027	c.987T>C	c.(985-987)gcT>gcC	p.A329A		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	329						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TTGGCTTCTCAGCCTGAACAA	0.428																																						ENST00000392876.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						c.(985-987)gcT>gcC		5'-nucleotidase domain containing 3							184.0	193.0	190.0					12																	104186974		2203	4300	6503	SO:0001819	synonymous_variant	51559						hydrolase activity|metal ion binding	g.chr12:104186974A>G	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.987T>C	12.37:g.104186974A>G							p.A329A	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN			9	1027	-			329					Q9NUM7|Q9P2T2|Q9P2T3	Silent	SNP	ENST00000392876.3	37	c.987T>C	CCDS41824.1																																																																																				0.428	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575		109	187	0	0	0	1	0	109	187				
KIF1A	547	broad.mit.edu	37	2	241700726	241700726	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:241700726T>C	ENST00000320389.7	-	23	2316	c.2158A>G	c.(2158-2160)Acg>Gcg	p.T720A	KIF1A_ENST00000498729.2_Missense_Mutation_p.T729A	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	720					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGCAGAGACGTGAACTGGTAC	0.612																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(2185-2187)Acg>Gcg		kinesin family member 1A							106.0	118.0	114.0					2																	241700726		2101	4210	6311	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241700726T>C	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2158A>G	2.37:g.241700726T>C	ENSP00000322791:p.Thr720Ala					KIF1A_ENST00000320389.7_Missense_Mutation_p.T720A	p.T729A	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	24	2431	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	720					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.2185A>G	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.087893	0.55968	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.78003	-1.14;-1.14;-1.14	5.05	5.05	0.67936	.	0.000000	0.85682	U	0.000000	D	0.83778	0.5328	M	0.87038	2.855	0.80722	D	1	P;B;B	0.51057	0.941;0.231;0.033	P;B;B	0.47981	0.563;0.117;0.025	D	0.86530	0.1821	10	0.52906	T	0.07	.	14.7692	0.69662	0.0:0.0:0.0:1.0	.	729;729;720	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	A	720;729;729;729	ENSP00000322791:T720A;ENSP00000438388:T729A;ENSP00000384231:T729A	ENSP00000322791:T720A	T	-	1	0	KIF1A	241349399	1.000000	0.71417	0.982000	0.44146	0.590000	0.36582	7.369000	0.79578	1.913000	0.55393	0.481000	0.45027	ACG		0.612	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		5	115	0	0	0	1	0	5	115				
AKAP13	11214	broad.mit.edu	37	15	86265261	86265261	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:86265261G>A	ENST00000394518.2	+	24	6387	c.6292G>A	c.(6292-6294)Ggc>Agc	p.G2098S	AKAP13_ENST00000361243.2_Missense_Mutation_p.G2102S|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.G343S	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2098	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAAGACATATGGCAAGTTTTG	0.383																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(6292-6294)Ggc>Agc		A kinase (PRKA) anchor protein 13							121.0	116.0	118.0					15																	86265261		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86265261G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6292G>A	15.37:g.86265261G>A	ENSP00000378026:p.Gly2098Ser					AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.G2102S|AKAP13_ENST00000394510.2_Missense_Mutation_p.G343S	p.G2098S	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			24	6387	+			2098			DH.|Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.6292G>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740403	0.89573	.	.	ENSG00000170776	ENST00000426424;ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.61040	0.14;0.14;0.14	5.3	5.3	0.74995	Dbl homology (DH) domain (5);	.	.	.	.	T	0.70211	0.3198	L	0.42632	1.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	T	0.69702	-0.5074	9	0.45353	T	0.12	.	17.9431	0.89031	0.0:0.0:1.0:0.0	.	2078;2098;2102	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	S	178;2102;2098;2101;2077;343	ENSP00000354718:G2102S;ENSP00000378026:G2098S;ENSP00000378018:G343S	ENSP00000354718:G2102S	G	+	1	0	AKAP13	84066265	1.000000	0.71417	0.988000	0.46212	0.646000	0.38490	7.640000	0.83355	2.454000	0.82982	0.655000	0.94253	GGC		0.383	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		6	100	0	0	0	1	0	6	100				
TAF10	6881	broad.mit.edu	37	11	6636694	6636694	+	5'Flank	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:6636694C>T	ENST00000299424.4	-	0	0				TPP1_ENST00000299427.6_Silent_p.V415V|TPP1_ENST00000534644.1_5'Flank|TAF10_ENST00000531760.1_5'Flank|TPP1_ENST00000533371.1_Silent_p.V172V	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa						chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCGTGGGAACACATTGCTGA	0.527																																						ENST00000533371.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(514-516)gtG>gtA		tripeptidyl peptidase I							174.0	127.0	143.0					11																	6636694		2201	4296	6497	SO:0001631	upstream_gene_variant	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6636694C>T	U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"""	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402		11.37:g.6636694C>T	Exception_encountered					TPP1_ENST00000299427.6_Silent_p.V415V	p.V172V			O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	9	1314	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	415					O00703|Q13175|Q6FH13	Silent	SNP	ENST00000299424.4	37	c.516G>A	CCDS7769.1																																																																																				0.527	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257259.2	NM_006284		16	50	0	0	0	1	0	16	50				
EZR	7430	broad.mit.edu	37	6	159188024	159188024	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:159188024G>A	ENST00000367075.3	-	14	1851	c.1683C>T	c.(1681-1683)ggC>ggT	p.G561G	EZR_ENST00000392177.4_Silent_p.G529G|MIR3918_ENST00000581555.1_RNA|EZR_ENST00000337147.7_Silent_p.G561G	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	561	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		ACTTGTCCCGGCCTTGCCTCA	0.582			T	ROS1	NSCLC																																	ENST00000367075.3				Dom	yes		6	6q25.3	7430	T	ezrin			E	ROS1		NSCLC	EZR/ROS1(4)	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15						c.(1681-1683)ggC>ggT		ezrin							259.0	214.0	229.0					6																	159188024		2203	4300	6503	SO:0001819	synonymous_variant	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159188024G>A	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1683C>T	6.37:g.159188024G>A						EZR_ENST00000337147.7_Silent_p.G561G|EZR_ENST00000392177.4_Silent_p.G529G	p.G561G	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	14	1851	-		Breast(66;0.000776)|Ovarian(120;0.0303)	561			Interaction with SCYL3.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Silent	SNP	ENST00000367075.3	37	c.1683C>T	CCDS5258.1																																																																																				0.582	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		59	142	0	0	0	1	0	59	142				
LYST	1130	broad.mit.edu	37	1	235966293	235966293	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:235966293A>G	ENST00000389794.3	-	8	3801	c.3627T>C	c.(3625-3627)tgT>tgC	p.C1209C	LYST_ENST00000536965.1_Silent_p.C1209C|LYST_ENST00000389793.2_Silent_p.C1209C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1209					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TAAAACTACAACACTGAGAAT	0.373																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(3625-3627)tgT>tgC		lysosomal trafficking regulator							91.0	82.0	85.0					1																	235966293		2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235966293A>G	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3627T>C	1.37:g.235966293A>G						LYST_ENST00000536965.1_Silent_p.C1209C|LYST_ENST00000389793.2_Silent_p.C1209C	p.C1209C			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		8	3801	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1209					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.3627T>C	CCDS31062.1																																																																																				0.373	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			7	40	0	0	0	1	0	7	40				
EGR2	1959	broad.mit.edu	37	10	64573155	64573155	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:64573155G>A	ENST00000242480.3	-	2	1568	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	EGR2_ENST00000493899.2_5'Flank|EGR2_ENST00000411732.1_Missense_Mutation_p.R365C|EGR2_ENST00000439032.1_Missense_Mutation_p.R415C	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	415					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					TTGGTGTGGCGCTTCCTCTCA	0.612																																						ENST00000242480.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36						c.(1243-1245)Cgc>Tgc		early growth response 2							138.0	127.0	131.0					10																	64573155		2203	4300	6503	SO:0001583	missense	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573155G>A	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.1243C>T	10.37:g.64573155G>A	ENSP00000242480:p.Arg415Cys					EGR2_ENST00000439032.1_Missense_Mutation_p.R415C|EGR2_ENST00000411732.1_Missense_Mutation_p.R365C	p.R415C	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN			2	1568	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		415					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	c.1243C>T	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113067	0.56398	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732	T;T;T	0.07688	3.17;3.17;3.17	4.85	4.85	0.62838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.22898	0.0553	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.00127	-1.2019	10	0.87932	D	0	-19.0274	12.0446	0.53473	0.0:0.0:0.8273:0.1727	.	365;415	P11161-2;P11161	.;EGR2_HUMAN	C	415;415;365	ENSP00000242480:R415C;ENSP00000402040:R415C;ENSP00000387634:R365C	ENSP00000242480:R415C	R	-	1	0	EGR2	64243161	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.753000	0.38359	2.515000	0.84797	0.655000	0.94253	CGC		0.612	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		23	124	0	0	0	1	0	23	124				
ERBB2IP	55914	broad.mit.edu	37	5	65342330	65342330	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:65342330C>T	ENST00000284037.5	+	18	2141	c.1752C>T	c.(1750-1752)aaC>aaT	p.N584N	ERBB2IP_ENST00000508515.1_Silent_p.N584N|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000506030.1_Silent_p.N584N|ERBB2IP_ENST00000380943.2_Silent_p.N584N|ERBB2IP_ENST00000380935.1_Silent_p.N584N|ERBB2IP_ENST00000380939.2_Silent_p.N584N|ERBB2IP_ENST00000511297.1_Silent_p.N580N|ERBB2IP_ENST00000380936.1_Silent_p.N584N|ERBB2IP_ENST00000380938.2_Silent_p.N584N	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	584					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CCTCTGAGAACTTGAAGCATA	0.333																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(1750-1752)aaC>aaT		erbb2 interacting protein							152.0	163.0	159.0					5																	65342330		2203	4300	6503	SO:0001819	synonymous_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65342330C>T		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1752C>T	5.37:g.65342330C>T						ERBB2IP_ENST00000380936.1_Silent_p.N584N|ERBB2IP_ENST00000380939.2_Silent_p.N584N|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380938.2_Silent_p.N584N|ERBB2IP_ENST00000511297.1_Silent_p.N580N|ERBB2IP_ENST00000380943.2_Silent_p.N584N|ERBB2IP_ENST00000506030.1_Silent_p.N584N|ERBB2IP_ENST00000508515.1_Silent_p.N584N|ERBB2IP_ENST00000380935.1_Silent_p.N584N	p.N584N	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	18	2141	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	584					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Silent	SNP	ENST00000284037.5	37	c.1752C>T	CCDS58953.1																																																																																				0.333	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		8	226	0	0	0	1	0	8	226				
ZNF585A	199704	broad.mit.edu	37	19	37643959	37643959	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:37643959T>C	ENST00000356958.4	-	5	1100	c.842A>G	c.(841-843)cAg>cGg	p.Q281R	ZNF585A_ENST00000355533.2_Missense_Mutation_p.Q226R|ZNF585A_ENST00000392157.2_Missense_Mutation_p.Q226R|ZNF585A_ENST00000292841.5_Missense_Mutation_p.Q226R|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGGGTCTTCTGGATGAAGGC	0.433																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(841-843)cAg>cGg		zinc finger protein 585A							232.0	219.0	224.0					19																	37643959		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643959T>C	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.842A>G	19.37:g.37643959T>C	ENSP00000349440:p.Gln281Arg					ZNF585A_ENST00000355533.2_Missense_Mutation_p.Q226R|ZNF585A_ENST00000292841.5_Missense_Mutation_p.Q226R|ZNF585A_ENST00000392157.2_Missense_Mutation_p.Q226R|ZNF585A_ENST00000588723.1_Intron	p.Q281R			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1100	-			281					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.842A>G		.	.	.	.	.	.	.	.	.	.	T	7.558	0.664069	0.14710	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	3.18	2.03	0.26663	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35378	N	0.003244	T	0.05318	0.0141	N	0.04508	-0.205	0.22531	N	0.999015	P	0.36315	0.547	B	0.38296	0.27	T	0.39313	-0.9620	10	0.15952	T	0.53	.	6.7964	0.23727	0.2086:0.0:0.0:0.7914	.	281	Q6P3V2	Z585A_HUMAN	R	281;226;226;226	ENSP00000349440:Q281R;ENSP00000292841:Q226R;ENSP00000375998:Q226R;ENSP00000347724:Q226R	ENSP00000292841:Q226R	Q	-	2	0	ZNF585A	42335799	0.000000	0.05858	1.000000	0.80357	0.320000	0.28249	-0.003000	0.12901	1.444000	0.47605	0.459000	0.35465	CAG		0.433	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		6	229	0	0	0	1	0	6	229				
MTMR8	55613	broad.mit.edu	37	X	63548661	63548661	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:63548661T>C	ENST00000374852.3	-	12	1539	c.1472A>G	c.(1471-1473)tAc>tGc	p.Y491C	MTMR8_ENST00000453546.1_Intron|MTMR8_ENST00000478487.1_5'Flank	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	491	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CTGAATGTTGTAGGGCACAGT	0.463																																						ENST00000374852.3																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						c.(1471-1473)tAc>tGc		myotubularin related protein 8							142.0	122.0	129.0					X																	63548661		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63548661T>C	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1472A>G	X.37:g.63548661T>C	ENSP00000363985:p.Tyr491Cys					MTMR8_ENST00000453546.1_Intron	p.Y491C	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN			12	1539	-			491			Myotubularin phosphatase.		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.1472A>G	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	T	9.680	1.149157	0.21288	.	.	ENSG00000102043	ENST00000374852;ENST00000247400	D	0.90004	-2.6	2.93	0.143	0.14820	Myotubularin phosphatase domain (1);	0.437967	0.14867	U	0.293758	T	0.75657	0.3879	N	0.19112	0.55	0.80722	D	1	B	0.13594	0.008	B	0.15870	0.014	T	0.62334	-0.6876	10	0.36615	T	0.2	.	2.7017	0.05150	0.4453:0.1544:0.0:0.4003	.	491	Q96EF0	MTMR8_HUMAN	C	491;377	ENSP00000363985:Y491C	ENSP00000247400:Y377C	Y	-	2	0	MTMR8	63465386	1.000000	0.71417	0.988000	0.46212	0.969000	0.65631	0.435000	0.21510	0.239000	0.21243	0.412000	0.27726	TAC		0.463	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		20	21	0	0	0	1	0	20	21				
GREM1	26585	broad.mit.edu	37	15	33023168	33023168	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:33023168T>C	ENST00000300177.4	+	2	466	c.277T>C	c.(277-279)Tgg>Cgg	p.W93R	GREM1_ENST00000560830.1_Missense_Mutation_p.W52R|GREM1_ENST00000322805.4_Missense_Mutation_p.W52R|GREM1_ENST00000560677.1_3'UTR	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	93					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		GAAGCGAGACTGGTGCAAAAC	0.607																																						ENST00000300177.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10						c.(277-279)Tgg>Cgg		gremlin 1, DAN family BMP antagonist							57.0	47.0	50.0					15																	33023168		2201	4300	6501	SO:0001583	missense	26585				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity	g.chr15:33023168T>C		CCDS10029.1, CCDS53927.1	15q13.3	2014-02-07	2013-02-26	2004-05-07	ENSG00000166923	ENSG00000166923			2001	protein-coding gene	gene with protein product		603054	"""cysteine knot superfamily 1, BMP antagonist 1"", ""gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 1"", ""colorectal adenoma and carcinoma 1"""	CKTSF1B1, CRAC1		9660951, 10026205, 22561515	Standard	NM_013372		Approved	DRM, gremlin, DAND2, HMPS	uc001zhe.2	O60565	OTTHUMG00000129319	ENST00000300177.4:c.277T>C	15.37:g.33023168T>C	ENSP00000300177:p.Trp93Arg					GREM1_ENST00000322805.4_Missense_Mutation_p.W52R|GREM1_ENST00000560830.1_Missense_Mutation_p.W52R|GREM1_ENST00000560677.1_3'UTR	p.W93R	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)	2	466	+		all_lung(180;1.49e-09)	93					Q52LV3|Q8N914|Q8N936	Missense_Mutation	SNP	ENST00000300177.4	37	c.277T>C	CCDS10029.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.473591	0.84640	.	.	ENSG00000166923	ENST00000300177;ENST00000322805	T;T	0.29917	1.55;1.55	5.57	5.57	0.84162	DAN (1);	0.000000	0.85682	D	0.000000	T	0.57286	0.2043	M	0.78285	2.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.59107	-0.7516	10	0.45353	T	0.12	-3.2309	15.74	0.77887	0.0:0.0:0.0:1.0	.	52;93;23	O60565-2;O60565;B3KTR9	.;GREM1_HUMAN;.	R	93;52	ENSP00000300177:W93R;ENSP00000323101:W52R	ENSP00000300177:W93R	W	+	1	0	GREM1	30810460	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.133000	0.65898	0.533000	0.62120	TGG		0.607	GREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251455.2	NM_013372		15	52	0	0	0	1	0	15	52				
NBEAL2	23218	broad.mit.edu	37	3	47043455	47043455	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:47043455G>A	ENST00000450053.3	+	31	5007	c.4828G>A	c.(4828-4830)Gca>Aca	p.A1610T	NBEAL2_ENST00000292309.5_Missense_Mutation_p.A1426T|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1610					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCTACAGACTGCAGTGCCAGC	0.622																																						ENST00000450053.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4828-4830)Gca>Aca		neurobeachin-like 2							13.0	17.0	16.0					3																	47043455		2145	4243	6388	SO:0001583	missense	23218						binding	g.chr3:47043455G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4828G>A	3.37:g.47043455G>A	ENSP00000415034:p.Ala1610Thr					NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.A1426T	p.A1610T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	31	5007	+		Acute lymphoblastic leukemia(5;0.0534)	1610					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.4828G>A	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	4.071	0.010971	0.07912	.	.	ENSG00000160796	ENST00000292309;ENST00000450053	T;T	0.56611	0.47;0.45	4.66	-0.559	0.11792	.	0.739822	0.12480	N	0.465269	T	0.34366	0.0895	L	0.36672	1.1	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.17715	-1.0360	10	0.24483	T	0.36	.	4.06	0.09834	0.3053:0.0:0.4394:0.2552	.	1426;1610	Q6ZNJ1-2;Q6ZNJ1	.;NBEL2_HUMAN	T	1426;1610	ENSP00000292309:A1426T;ENSP00000415034:A1610T	ENSP00000292309:A1426T	A	+	1	0	NBEAL2	47018459	0.000000	0.05858	0.000000	0.03702	0.194000	0.23727	-0.124000	0.10595	-0.331000	0.08501	-0.150000	0.13652	GCA		0.622	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		13	35	0	0	0	1	0	13	35				
ALPK3	57538	broad.mit.edu	37	15	85400612	85400612	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:85400612G>A	ENST00000258888.5	+	6	3416	c.3249G>A	c.(3247-3249)gcG>gcA	p.A1083A		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1083					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCCAAAGGCGGGGCCGTGTA	0.617																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(3247-3249)gcG>gcA		alpha-kinase 3							63.0	50.0	55.0					15																	85400612		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85400612G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3249G>A	15.37:g.85400612G>A							p.A1083A	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	3416	+			1083					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.3249G>A	CCDS10333.1																																																																																				0.617	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		19	56	0	0	0	1	0	19	56				
ROBO1	6091	broad.mit.edu	37	3	78710237	78710237	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:78710237A>G	ENST00000464233.1	-	16	2376	c.2263T>C	c.(2263-2265)Ttt>Ctt	p.F755L	ROBO1_ENST00000495273.1_Missense_Mutation_p.F719L|ROBO1_ENST00000436010.2_Missense_Mutation_p.F716L|ROBO1_ENST00000467549.1_Missense_Mutation_p.F719L	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	755	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AATTCATTAAAAAAAGGGCGA	0.403																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(2146-2148)Ttt>Ctt		roundabout, axon guidance receptor, homolog 1 (Drosophila)							88.0	82.0	84.0					3																	78710237		1812	4078	5890	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78710237A>G	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2263T>C	3.37:g.78710237A>G	ENSP00000420321:p.Phe755Leu					ROBO1_ENST00000467549.1_Missense_Mutation_p.F719L|ROBO1_ENST00000464233.1_Missense_Mutation_p.F755L|ROBO1_ENST00000495273.1_Missense_Mutation_p.F719L	p.F716L			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	14	3143	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	755			Fibronectin type-III 2.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.2146T>C	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	A	33	5.272587	0.95429	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.24	5.24	0.73138	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	M	0.72894	2.215	0.80722	D	1	P;D;D;D;D;D	0.89917	0.954;0.993;1.0;1.0;1.0;0.997	D;D;D;D;D;D	0.87578	0.943;0.987;0.998;0.996;0.998;0.986	T	0.68930	-0.5279	9	.	.	.	.	15.1243	0.72469	1.0:0.0:0.0:0.0	.	719;719;755;719;719;716	Q9Y6N7-3;Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;.;ROBO1_HUMAN;.;.;.	L	716;719;755;719;719;759	ENSP00000406043:F716L;ENSP00000420321:F755L;ENSP00000420637:F719L;ENSP00000417992:F719L	.	F	-	1	0	ROBO1	78792927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.964000	0.57103	0.459000	0.35465	TTT		0.403	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		11	26	0	0	0	1	0	11	26				
LTBP2	4053	broad.mit.edu	37	14	75078569	75078569	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:75078569C>A	ENST00000261978.4	-	1	465	c.79G>T	c.(79-81)Gct>Tct	p.A27S	CTD-2207P18.2_ENST00000556652.1_lincRNA|LTBP2_ENST00000556690.1_Missense_Mutation_p.A27S|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	27					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ACGAAGAGAGCCAGGGTGAGC	0.721																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(79-81)Gct>Tct		latent transforming growth factor beta binding protein 2							9.0	12.0	11.0					14																	75078569		2150	4221	6371	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75078569C>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.79G>T	14.37:g.75078569C>A	ENSP00000261978:p.Ala27Ser					LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.A27S	p.A27S	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	1	465	-			27					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.79G>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281295	0.80692	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.79653	-1.27;-1.29	3.5	3.5	0.40072	.	0.000000	0.38436	N	0.001686	D	0.82651	0.5083	L	0.29908	0.895	0.26588	N	0.973246	D	0.69078	0.997	D	0.75020	0.985	T	0.75695	-0.3228	10	0.72032	D	0.01	.	13.3396	0.60537	0.0:1.0:0.0:0.0	.	27	Q14767	LTBP2_HUMAN	S	27	ENSP00000261978:A27S;ENSP00000451477:A27S	ENSP00000261978:A27S	A	-	1	0	LTBP2	74148322	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	3.725000	0.54970	1.964000	0.57103	0.462000	0.41574	GCT		0.721	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		7	23	1	0	8.12818e-05	1	8.26188e-05	7	23				
UEVLD	55293	broad.mit.edu	37	11	18587996	18587996	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18587996T>C	ENST00000396197.3	-	5	419	c.391A>G	c.(391-393)Atg>Gtg	p.M131V	UEVLD_ENST00000535484.1_Missense_Mutation_p.M93V|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000543987.1_Missense_Mutation_p.M131V|UEVLD_ENST00000379387.4_Missense_Mutation_p.M109V|UEVLD_ENST00000300038.7_Missense_Mutation_p.M131V|UEVLD_ENST00000320750.6_Missense_Mutation_p.M109V	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TTGGCAATCATTTCTTTAATT	0.353																																						ENST00000396197.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(391-393)Atg>Gtg		UEV and lactate/malate dehyrogenase domains							78.0	78.0	78.0					11																	18587996		2199	4293	6492	SO:0001583	missense	55293				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr11:18587996T>C	AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000396197.3:c.391A>G	11.37:g.18587996T>C	ENSP00000379500:p.Met131Val					UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000543987.1_Missense_Mutation_p.M131V|UEVLD_ENST00000535484.1_Missense_Mutation_p.M93V|UEVLD_ENST00000320750.6_Missense_Mutation_p.M109V|UEVLD_ENST00000379387.4_Missense_Mutation_p.M109V|UEVLD_ENST00000300038.7_Missense_Mutation_p.M131V	p.M131V	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN			5	419	-			131			UEV.			Missense_Mutation	SNP	ENST00000396197.3	37	c.391A>G	CCDS41624.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.297323	0.81025	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000300038	D;D;T;D;T	0.84800	-1.88;-1.84;-0.98;-1.9;-1.0	5.89	5.89	0.94794	Ubiquitin E2 variant, N-terminal (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.036498	0.85682	D	0.000000	D	0.92397	0.7587	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.995;0.99;0.984;0.985	D;D;D;P;D	0.83275	0.996;0.99;0.979;0.891;0.949	D	0.93274	0.6654	10	0.87932	D	0	-25.1958	14.8869	0.70575	0.0:0.0:0.0:1.0	.	131;109;109;131;131	Q8IX04-5;B4DL43;Q8IX04-3;Q8IX04-2;Q8IX04	.;.;.;.;UEVLD_HUMAN	V	131;93;131;109;109;131	ENSP00000442974:M131V;ENSP00000441092:M93V;ENSP00000379500:M131V;ENSP00000323353:M109V;ENSP00000368697:M109V	ENSP00000300038:M131V	M	-	1	0	UEVLD	18544572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.662000	0.74426	2.254000	0.74563	0.533000	0.62120	ATG		0.353	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395923.2	NM_018314		14	45	0	0	0	1	0	14	45				
AHDC1	27245	broad.mit.edu	37	1	27877191	27877191	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:27877191G>A	ENST00000247087.5	-	5	2032	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V	AHDC1_ENST00000374011.2_Missense_Mutation_p.A479V			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	479							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)		GGGGATCTTGGCCATCTTCAC	0.622																																						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.(1435-1437)gCc>gTc		AT hook, DNA binding motif, containing 1							27.0	27.0	27.0					1																	27877191		2202	4299	6501	SO:0001583	missense	27245						DNA binding	g.chr1:27877191G>A	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.1436C>T	1.37:g.27877191G>A	ENSP00000247087:p.Ala479Val					AHDC1_ENST00000247087.5_Missense_Mutation_p.A479V|AHDC1_ENST00000482400.2_Intron	p.A479V	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	2404	-		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)	479					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.1436C>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362909	0.82353	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.61742	0.08;0.08	5.54	5.54	0.83059	.	0.090208	0.40144	U	0.001161	T	0.64170	0.2574	N	0.19112	0.55	0.58432	D	0.999997	D	0.71674	0.998	D	0.68765	0.96	T	0.67738	-0.5593	10	0.72032	D	0.01	-10.9334	18.4191	0.90582	0.0:0.0:1.0:0.0	.	479	Q5TGY3	AHDC1_HUMAN	V	479	ENSP00000247087:A479V;ENSP00000363123:A479V	ENSP00000247087:A479V	A	-	2	0	AHDC1	27749778	1.000000	0.71417	0.995000	0.50966	0.812000	0.45895	8.774000	0.91767	2.884000	0.98904	0.655000	0.94253	GCC		0.622	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			9	27	0	0	0	1	0	9	27				
EPDR1	54749	broad.mit.edu	37	7	37989894	37989894	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:37989894T>C	ENST00000199448.4	+	3	950	c.571T>C	c.(571-573)Ttt>Ctt	p.F191L	EPDR1_ENST00000425345.1_Missense_Mutation_p.F130L|EPDR1_ENST00000559325.1_Missense_Mutation_p.F311L|EPDR1_ENST00000476620.1_Missense_Mutation_p.F89L	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	191					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GTCTACGCGGTTTTTTGACAT	0.468																																						ENST00000199448.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(571-573)Ttt>Ctt		ependymin related 1							64.0	63.0	63.0					7																	37989894		2203	4300	6503	SO:0001583	missense	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37989894T>C	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.571T>C	7.37:g.37989894T>C	ENSP00000199448:p.Phe191Leu					EPDR1_ENST00000559325.1_Missense_Mutation_p.F311L|EPDR1_ENST00000476620.1_Missense_Mutation_p.F89L|EPDR1_ENST00000425345.1_Missense_Mutation_p.F130L	p.F191L	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN			3	950	+			191					A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	37	c.571T>C	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	T	25.7	4.667218	0.88251	.	.	ENSG00000086289	ENST00000476620;ENST00000199448;ENST00000425345	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.79173	0.4401	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.988;0.998	T	0.82104	-0.0622	9	0.66056	D	0.02	-11.7411	13.7572	0.62943	0.0:0.0:0.0:1.0	.	130;311	C9JYS3;A4D1W8	.;.	L	89;311;130	.	ENSP00000199448:F311L	F	+	1	0	EPDR1	37956419	1.000000	0.71417	0.970000	0.41538	0.562000	0.35680	7.825000	0.86693	2.157000	0.67596	0.533000	0.62120	TTT		0.468	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		9	36	0	0	0	1	0	9	36				
OR13J1	392309	broad.mit.edu	37	9	35870045	35870045	+	Silent	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35870045C>A	ENST00000377981.2	-	1	416	c.354G>T	c.(352-354)acG>acT	p.T118T		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	118						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)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GGTCATAGGCCGTGATGGCCA	0.617																																						ENST00000377981.2																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(352-354)acG>acT		olfactory receptor, family 13, subfamily J, member 1							64.0	69.0	68.0					9																	35870045		2203	4300	6503	SO:0001819	synonymous_variant	392309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35870045C>A		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"""GPCR / Class A : Olfactory receptors"""	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.354G>T	9.37:g.35870045C>A							p.T118T	NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)		1	416	-	all_epithelial(49;0.169)		118					B2RN66|Q6IF20|Q96R40	Silent	SNP	ENST00000377981.2	37	c.354G>T	CCDS35011.1																																																																																				0.617	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052381.1			24	70	1	0	6.44725e-10	1	6.67513e-10	24	70				
NEB	4703	broad.mit.edu	37	2	152419202	152419202	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:152419202A>G	ENST00000172853.10	-	92	13858	c.13711T>C	c.(13711-13713)Tat>Cat	p.Y4571H	NEB_ENST00000397345.3_Missense_Mutation_p.Y6272H|NEB_ENST00000409198.1_Missense_Mutation_p.Y4571H|NEB_ENST00000427231.2_Missense_Mutation_p.Y6272H|NEB_ENST00000604864.1_Missense_Mutation_p.Y6272H|NEB_ENST00000603639.1_Missense_Mutation_p.Y6272H			P20929	NEBU_HUMAN	nebulin	4571					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGTGGAAATAGTGTCGATAC	0.473																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(18814-18816)Tat>Cat		nebulin							138.0	130.0	133.0					2																	152419202		2000	4157	6157	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152419202A>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13711T>C	2.37:g.152419202A>G	ENSP00000172853:p.Tyr4571His					NEB_ENST00000409198.1_Missense_Mutation_p.Y4571H|NEB_ENST00000172853.10_Missense_Mutation_p.Y4571H|NEB_ENST00000427231.2_Missense_Mutation_p.Y6272H|NEB_ENST00000603639.1_Missense_Mutation_p.Y6272H|NEB_ENST00000604864.1_Missense_Mutation_p.Y6272H	p.Y6272H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	120	19016	-			6281					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.18814T>C		.	.	.	.	.	.	.	.	.	.	A	19.61	3.860736	0.71834	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.74	3.36	0.38483	.	0.056934	0.64402	D	0.000001	T	0.31827	0.0809	L	0.50333	1.59	0.80722	D	1	B;P	0.48640	0.011;0.913	B;P	0.47470	0.035;0.548	T	0.02339	-1.1174	10	0.25106	T	0.35	.	10.4541	0.44539	0.8695:0.0:0.1305:0.0	.	4571;1002	P20929;Q14215	NEBU_HUMAN;.	H	4571;6272;6272;620;1002;4571	ENSP00000386259:Y4571H;ENSP00000380505:Y6272H;ENSP00000416578:Y6272H;ENSP00000410961:Y1002H;ENSP00000172853:Y4571H	ENSP00000172853:Y4571H	Y	-	1	0	NEB	152127448	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.067000	0.50010	0.526000	0.28541	0.460000	0.39030	TAT		0.473	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		8	22	0	0	0	1	0	8	22				
SCN9A	6335	broad.mit.edu	37	2	167055439	167055439	+	Missense_Mutation	SNP	G	G	A	rs372083483		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:167055439G>A	ENST00000409435.1	-	26	5709	c.5710C>T	c.(5710-5712)Cgc>Tgc	p.R1904C	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.R1905C|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1893C|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1905C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1904	IQ.				behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCCTTAAGCGGTAACGTCTA	0.353																																						ENST00000303354.6																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(5713-5715)Cgc>Tgc		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)	G	CYS/ARG	0,4306		0,0,2153	155.0	162.0	160.0		5677	4.3	0.9	2		160	1,8531		0,1,4265	no	missense	SCN9A	NM_002977.3	180	0,1,6418	AA,AG,GG		0.0117,0.0,0.0078	benign	1893/1978	167055439	1,12837	2153	4266	6419	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055439G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5710C>T	2.37:g.167055439G>A	ENSP00000386330:p.Arg1904Cys					SCN9A_ENST00000409672.1_Missense_Mutation_p.R1893C|SCN9A_ENST00000409435.1_Missense_Mutation_p.R1904C|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.R1905C	p.R1905C			Q15858	SCN9A_HUMAN			27	6053	-			1904			IQ.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.5713C>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732726	0.48939	0.0	1.17E-4	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96300	-3.94;-3.97;-3.97;-3.97	6.08	4.31	0.51392	.	0.088179	0.50627	N	0.000112	D	0.94827	0.8329	M	0.74881	2.28	0.51012	D	0.999901	B	0.30146	0.27	B	0.20184	0.028	D	0.92833	0.6282	10	0.87932	D	0	.	13.1704	0.59595	0.1185:0.0:0.8815:0.0	.	1893	E7EUN6	.	C	1893;1905;1905;1904	ENSP00000386306:R1893C;ENSP00000364536:R1905C;ENSP00000304748:R1905C;ENSP00000386330:R1904C	ENSP00000304748:R1905C	R	-	1	0	SCN9A	166763685	1.000000	0.71417	0.924000	0.36721	0.545000	0.35147	3.576000	0.53878	0.922000	0.37019	-0.469000	0.05056	CGC		0.353	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		30	135	0	0	0	1	0	30	135				
SPOCK1	6695	broad.mit.edu	37	5	136324330	136324330	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:136324330A>G	ENST00000394945.1	-	8	878	c.709T>C	c.(709-711)Ttt>Ctt	p.F237L	SPOCK1_ENST00000509978.1_5'UTR|SPOCK1_ENST00000282223.7_Missense_Mutation_p.F237L	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	237					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)			CTAGTGTCAAACCCTGCCAAA	0.532																																						ENST00000394945.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18						c.(709-711)Ttt>Ctt		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1							79.0	66.0	70.0					5																	136324330		2203	4300	6503	SO:0001583	missense	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136324330A>G	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.709T>C	5.37:g.136324330A>G	ENSP00000378401:p.Phe237Leu					SPOCK1_ENST00000282223.7_Missense_Mutation_p.F237L|SPOCK1_ENST00000509978.1_5'UTR	p.F237L	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		8	878	-			237					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	37	c.709T>C	CCDS4191.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920380	0.73098	.	.	ENSG00000152377	ENST00000394945;ENST00000282223	T;T	0.42131	0.98;0.98	5.93	5.93	0.95920	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	L	0.43646	1.37	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.48536	-0.9027	10	0.24483	T	0.36	.	15.5628	0.76262	1.0:0.0:0.0:0.0	.	237	Q08629	TICN1_HUMAN	L	237	ENSP00000378401:F237L;ENSP00000282223:F237L	ENSP00000282223:F237L	F	-	1	0	SPOCK1	136352229	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.335000	0.96500	2.261000	0.74972	0.460000	0.39030	TTT		0.532	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		12	32	0	0	0	1	0	12	32				
ADAM23	8745	broad.mit.edu	37	2	207460793	207460793	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:207460793A>G	ENST00000264377.3	+	24	2594	c.2266A>G	c.(2266-2268)Acc>Gcc	p.T756A	ADAM23_ENST00000374415.3_Missense_Mutation_p.T756A|ADAM23_ENST00000374416.1_Missense_Mutation_p.T756A	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	756	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TAATGAAGCCACCTGCATTTG	0.453																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(2266-2268)Acc>Gcc		ADAM metallopeptidase domain 23							89.0	79.0	82.0					2																	207460793		2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207460793A>G	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2266A>G	2.37:g.207460793A>G	ENSP00000264377:p.Thr756Ala					ADAM23_ENST00000374416.1_Missense_Mutation_p.T756A|ADAM23_ENST00000374415.3_Missense_Mutation_p.T756A	p.T756A	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	24	2594	+			756			EGF-like.		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.2266A>G	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.915859	0.52546	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000374415	T;T;T	0.01767	4.65;4.65;4.65	5.7	5.7	0.88788	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000007	T	0.04318	0.0119	M	0.74258	2.255	0.54753	D	0.999987	B	0.17852	0.024	B	0.16289	0.015	T	0.19063	-1.0317	10	0.62326	D	0.03	.	15.9774	0.80079	1.0:0.0:0.0:0.0	.	756	O75077	ADA23_HUMAN	A	756	ENSP00000264377:T756A;ENSP00000363537:T756A;ENSP00000363536:T756A	ENSP00000264377:T756A	T	+	1	0	ADAM23	207169038	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.115000	0.71566	2.179000	0.69175	0.533000	0.62120	ACC		0.453	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		7	28	0	0	0	1	0	7	28				
PTPRS	5802	broad.mit.edu	37	19	5208367	5208367	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:5208367G>A	ENST00000587303.1	-	35	5622	c.5523C>T	c.(5521-5523)ttC>ttT	p.F1841F	PTPRS_ENST00000588012.1_Silent_p.F1803F|PTPRS_ENST00000353284.2_Silent_p.F1394F|PTPRS_ENST00000262963.6_Silent_p.F1821F|PTPRS_ENST00000592099.1_Silent_p.F1394F|PTPRS_ENST00000372412.4_Silent_p.F1842F|PTPRS_ENST00000348075.2_Silent_p.F1803F|PTPRS_ENST00000357368.4_Silent_p.F1841F|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1841	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GCCAGTCTGTGAACTGGAACT	0.577																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(5524-5526)ttC>ttT		protein tyrosine phosphatase, receptor type, S							67.0	59.0	62.0					19																	5208367		2203	4300	6503	SO:0001819	synonymous_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5208367G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5523C>T	19.37:g.5208367G>A						PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Silent_p.F1394F|PTPRS_ENST00000588012.1_Silent_p.F1803F|PTPRS_ENST00000357368.4_Silent_p.F1841F|PTPRS_ENST00000587303.1_Silent_p.F1841F|PTPRS_ENST00000348075.2_Silent_p.F1803F|PTPRS_ENST00000262963.6_Silent_p.F1821F|PTPRS_ENST00000592099.1_Silent_p.F1394F	p.F1842F			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	36	5759	-			1841			Tyrosine-protein phosphatase 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	ENST00000587303.1	37	c.5526C>T	CCDS45930.1																																																																																				0.577	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			6	28	0	0	0	1	0	6	28				
CYP4F8	11283	broad.mit.edu	37	19	15740180	15740180	+	RNA	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:15740180A>G	ENST00000441682.2	+	0	1636							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GCCTGCAGTGACCCACCCACC	0.582																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8							52.0	56.0	54.0					19																	15740180		2194	4297	6491			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15740180A>G	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15740180A>G										P98187	CP4F8_HUMAN			0	1636	+									RNA	SNP	ENST00000441682.2	37																																																																																						0.582	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		3	21	0	0	0	1	0	3	21				
PCDHB8	56128	broad.mit.edu	37	5	140559417	140559417	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140559417C>T	ENST00000239444.2	+	1	2047	c.1802C>T	c.(1801-1803)gCc>gTc	p.A601V	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	601	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCAGAACGCCTGGCTGTCG	0.721																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1801-1803)gCc>gTc																																						SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559417C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1802C>T	5.37:g.140559417C>T	ENSP00000239444:p.Ala601Val						p.A601V	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2047	+			601			Cadherin 6.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1802C>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807597	0.90623	.	.	ENSG00000120322	ENST00000239444	T	0.53857	0.6	4.22	4.22	0.49857	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.79845	0.4516	H	0.94264	3.515	0.42774	D	0.99384	D	0.89917	1.0	D	0.80764	0.994	D	0.87067	0.2157	9	0.87932	D	0	.	16.2834	0.82708	0.0:1.0:0.0:0.0	.	601	Q9UN66	PCDB8_HUMAN	V	601	ENSP00000239444:A601V	ENSP00000239444:A601V	A	+	2	0	PCDHB8	140539601	0.113000	0.22115	1.000000	0.80357	0.942000	0.58702	3.465000	0.53064	1.915000	0.55452	0.298000	0.19748	GCC		0.721	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		6	285	0	0	0	1	0	6	285				
RHBDL2	54933	broad.mit.edu	37	1	39384785	39384785	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:39384785C>T	ENST00000289248.2	-	2	1108	c.100G>A	c.(100-102)Ggg>Agg	p.G34R	RHBDL2_ENST00000372985.3_Missense_Mutation_p.G114R|RHBDL2_ENST00000540558.1_Missense_Mutation_p.G34R|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000538156.1_Missense_Mutation_p.G101R|RHBDL2_ENST00000372990.1_Missense_Mutation_p.G34R			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TTACCTCCCCCATCCTCTCTC	0.473																																						ENST00000289248.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8						c.(100-102)Ggg>Agg		rhomboid, veinlet-like 2 (Drosophila)							239.0	218.0	225.0					1																	39384785		2203	4300	6503	SO:0001583	missense	54933				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr1:39384785C>T	AK000442	CCDS30680.1	1p35.1	2014-01-28	2001-11-28		ENSG00000158315	ENSG00000158315			16083	protein-coding gene	gene with protein product		608962	"""rhomboid (veinlet, Drosophila)-like 2"""				Standard	NM_017821		Approved	FLJ20435	uc001ccu.1	Q9NX52	OTTHUMG00000000487	ENST00000289248.2:c.100G>A	1.37:g.39384785C>T	ENSP00000289248:p.Gly34Arg					RHBDL2_ENST00000538156.1_Missense_Mutation_p.G101R|RHBDL2_ENST00000540558.1_Missense_Mutation_p.G34R|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Missense_Mutation_p.G114R|RHBDL2_ENST00000372990.1_Missense_Mutation_p.G34R	p.G34R			Q9NX52	RHBL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)		2	1108	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	34					B2RNT3|B9EH75|Q6P175|Q8NER8|Q96E02	Missense_Mutation	SNP	ENST00000289248.2	37	c.100G>A	CCDS30680.1	.	.	.	.	.	.	.	.	.	.	C	9.477	1.097147	0.20552	.	.	ENSG00000158315	ENST00000372990;ENST00000289248;ENST00000538156;ENST00000372985;ENST00000540558	T;T;T;T	0.32515	1.55;1.55;1.46;1.45	4.83	-3.87	0.04218	.	5.783350	0.00166	N	0.000004	T	0.15435	0.0372	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.08207	-1.0733	10	0.11794	T	0.64	-10.0855	0.706	0.00916	0.2257:0.3191:0.2225:0.2326	.	114;101;34	B7Z1Y9;B3KUN4;Q9NX52	.;.;RHBL2_HUMAN	R	34;34;101;114;34	ENSP00000362081:G34R;ENSP00000289248:G34R;ENSP00000439227:G101R;ENSP00000362076:G114R	ENSP00000289248:G34R	G	-	1	0	RHBDL2	39157372	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.264000	0.08658	-0.576000	0.05974	-0.314000	0.08810	GGG		0.473	RHBDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001216.1	NM_017821		37	130	0	0	0	1	0	37	130				
TLDC1	57707	broad.mit.edu	37	16	84529368	84529368	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:84529368T>C	ENST00000343629.6	-	3	487	c.305A>G	c.(304-306)aAc>aGc	p.N102S	TLDC1_ENST00000535580.1_Missense_Mutation_p.N75S|RP11-517C16.4_ENST00000568771.1_RNA|TLDC1_ENST00000561807.1_5'UTR	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	102						lysosomal membrane (GO:0005765)											CTCCTCGGAGTTTCCTTTCAA	0.547																																						ENST00000343629.6																			0											c.(304-306)aAc>aGc		TBC/LysM-associated domain containing 1							134.0	116.0	122.0					16																	84529368		2200	4300	6500	SO:0001583	missense	57707							g.chr16:84529368T>C	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.305A>G	16.37:g.84529368T>C	ENSP00000343635:p.Asn102Ser					RP11-517C16.4_ENST00000568771.1_RNA|TLDC1_ENST00000561807.1_5'UTR|TLDC1_ENST00000535580.1_Missense_Mutation_p.N75S	p.N102S	NM_020947.3	NP_065998.3					3	487	-								Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	c.305A>G	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	T	4.760	0.141393	0.09083	.	.	ENSG00000140950	ENST00000343629;ENST00000535580	T;T	0.15256	2.44;2.44	5.34	-4.7	0.03288	.	0.334836	0.33075	N	0.005316	T	0.05960	0.0155	N	0.12569	0.235	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36212	-0.9757	10	0.10377	T	0.69	-12.3991	7.9469	0.29991	0.0:0.4652:0.1248:0.41	.	75;102	F5GWS3;Q6P9B6	.;K1609_HUMAN	S	102;75	ENSP00000343635:N102S;ENSP00000441997:N75S	ENSP00000343635:N102S	N	-	2	0	KIAA1609	83086869	0.000000	0.05858	0.000000	0.03702	0.342000	0.28953	-1.040000	0.03546	-1.389000	0.02090	-0.400000	0.06385	AAC		0.547	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		35	111	0	0	0	1	0	35	111				
UPP1	7378	broad.mit.edu	37	7	48147071	48147071	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:48147071T>C	ENST00000331803.4	+	9	1383	c.760T>C	c.(760-762)Ttt>Ctt	p.F254L	UPP1_ENST00000341253.4_Missense_Mutation_p.F254L|UPP1_ENST00000429491.2_Missense_Mutation_p.F117L|UPP1_ENST00000395564.4_Missense_Mutation_p.F254L|UPP1_ENST00000482015.1_3'UTR			Q16831	UPP1_HUMAN	uridine phosphorylase 1	254					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	GTCCTCGGTGTTTGCCGCCAT	0.637																																						ENST00000331803.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(760-762)Ttt>Ctt		uridine phosphorylase 1							69.0	64.0	66.0					7																	48147071		2203	4300	6503	SO:0001583	missense	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48147071T>C	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.760T>C	7.37:g.48147071T>C	ENSP00000330032:p.Phe254Leu					UPP1_ENST00000341253.4_Missense_Mutation_p.F254L|UPP1_ENST00000429491.2_Missense_Mutation_p.F117L|UPP1_ENST00000395564.4_Missense_Mutation_p.F254L|UPP1_ENST00000482015.1_3'UTR	p.F254L			Q16831	UPP1_HUMAN			9	1383	+			254					D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	c.760T>C	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.959606	0.53400	.	.	ENSG00000183696	ENST00000331803;ENST00000341253;ENST00000395564;ENST00000429491	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.59	4.43	0.53597	Nucleoside phosphorylase domain (1);	0.046152	0.85682	N	0.000000	T	0.34948	0.0915	L	0.58969	1.84	0.80722	D	1	B;P	0.34662	0.271;0.462	B;B	0.40782	0.17;0.34	T	0.09400	-1.0676	10	0.46703	T	0.11	-15.0016	10.8351	0.46683	0.0:0.0742:0.0:0.9258	.	117;254	Q86Y75;Q16831	.;UPP1_HUMAN	L	254;254;254;117	ENSP00000330032:F254L;ENSP00000342878:F254L;ENSP00000378931:F254L;ENSP00000406224:F117L	ENSP00000330032:F254L	F	+	1	0	UPP1	48113596	1.000000	0.71417	0.607000	0.28956	0.140000	0.21249	4.845000	0.62853	0.929000	0.37192	0.528000	0.53228	TTT		0.637	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		19	87	0	0	0	1	0	19	87				
CCDC92	80212	broad.mit.edu	37	12	124427915	124427915	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124427915G>A	ENST00000238156.3	-	3	514	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	CCDC92_ENST00000545891.1_Missense_Mutation_p.R37W|CCDC92_ENST00000545135.1_Missense_Mutation_p.R37W|CCDC92_ENST00000544798.1_5'UTR	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	54						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TGCTGCAGCCGCCTGATCTCG	0.657																																						ENST00000545135.1																			0				large_intestine(5)|lung(2)	7						c.(109-111)Cgg>Tgg		coiled-coil domain containing 92							76.0	70.0	72.0					12																	124427915		2203	4300	6503	SO:0001583	missense	80212							g.chr12:124427915G>A	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.160C>T	12.37:g.124427915G>A	ENSP00000238156:p.Arg54Trp					CCDC92_ENST00000544798.1_5'UTR|CCDC92_ENST00000545891.1_Missense_Mutation_p.R37W|CCDC92_ENST00000238156.3_Missense_Mutation_p.R54W	p.R37W			Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	1	3405	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		54					B3KNQ0|Q9H697	Missense_Mutation	SNP	ENST00000238156.3	37	c.109C>T	CCDS9256.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002441	0.93227	.	.	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891;ENST00000539761;ENST00000535556;ENST00000539551	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.49	3.57	0.40892	.	0.000000	0.85682	D	0.000000	T	0.67730	0.2924	M	0.82517	2.595	0.54753	D	0.999985	D	0.89917	1.0	D	0.85130	0.997	T	0.71623	-0.4537	10	0.87932	D	0	-11.2134	9.9903	0.41868	0.0713:0.0:0.791:0.1377	.	54	Q53HC0	CCD92_HUMAN	W	54;37;37;54;37;54	ENSP00000238156:R54W;ENSP00000439526:R37W;ENSP00000440024:R37W;ENSP00000439441:R54W;ENSP00000438281:R37W;ENSP00000442369:R54W	ENSP00000238156:R54W	R	-	1	2	CCDC92	122993868	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.844000	0.48246	1.331000	0.45412	0.561000	0.74099	CGG		0.657	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		34	129	0	0	0	1	0	34	129				
AGL	178	broad.mit.edu	37	1	100343222	100343222	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:100343222A>G	ENST00000294724.4	+	12	1927	c.1449A>G	c.(1447-1449)gaA>gaG	p.E483E	AGL_ENST00000370165.3_Silent_p.E483E|AGL_ENST00000370161.2_Silent_p.E467E|AGL_ENST00000361302.3_Silent_p.E467E|AGL_ENST00000361915.3_Silent_p.E483E|AGL_ENST00000361522.4_Silent_p.E466E|AGL_ENST00000370163.3_Silent_p.E483E	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	483					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TAAGGAGAGAACTTATTTGCT	0.363																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(1447-1449)gaA>gaG		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							87.0	85.0	86.0					1																	100343222		2203	4300	6503	SO:0001819	synonymous_variant	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100343222A>G	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.1449A>G	1.37:g.100343222A>G						AGL_ENST00000361522.4_Silent_p.E466E|AGL_ENST00000361915.3_Silent_p.E483E|AGL_ENST00000361302.3_Silent_p.E467E|AGL_ENST00000370161.2_Silent_p.E467E|AGL_ENST00000370165.3_Silent_p.E483E|AGL_ENST00000370163.3_Silent_p.E483E	p.E483E	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	12	1927	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	483					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	ENST00000294724.4	37	c.1449A>G	CCDS759.1																																																																																				0.363	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		15	48	0	0	0	1	0	15	48				
TKTL2	84076	broad.mit.edu	37	4	164394269	164394269	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:164394269G>A	ENST00000280605.3	-	1	778	c.618C>T	c.(616-618)tgC>tgT	p.C206C		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	206						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGGCTTCACAGCAATTCTGGT	0.507																																						ENST00000280605.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(616-618)tgC>tgT		transketolase-like 2							74.0	74.0	74.0					4																	164394269		2203	4300	6503	SO:0001819	synonymous_variant	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394269G>A	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.618C>T	4.37:g.164394269G>A							p.C206C	NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN			1	778	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	206					A4FVB4|Q8NCT0|Q96M82	Silent	SNP	ENST00000280605.3	37	c.618C>T	CCDS3805.1																																																																																				0.507	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		24	75	0	0	0	1	0	24	75				
SNX25	83891	broad.mit.edu	37	4	186185657	186185657	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:186185657G>A	ENST00000504273.1	+	4	599	c.305G>A	c.(304-306)aGa>aAa	p.R102K	SNX25_ENST00000264694.8_Missense_Mutation_p.R102K			Q9H3E2	SNX25_HUMAN	sorting nexin 25	102	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GATGAAGTAAGATTTCTACAA	0.413																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(304-306)aGa>aAa		sorting nexin 25							180.0	165.0	170.0					4																	186185657		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186185657G>A	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.305G>A	4.37:g.186185657G>A	ENSP00000426255:p.Arg102Lys					SNX25_ENST00000264694.8_Missense_Mutation_p.R102K	p.R102K			Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	4	599	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	102			PXA.		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.305G>A	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165294	0.38217	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.09073	3.02;3.02	5.04	4.2	0.49525	Phox-associated domain (2);	0.183303	0.49916	N	0.000134	T	0.05364	0.0142	L	0.27053	0.805	0.34314	D	0.685835	B	0.06786	0.001	B	0.08055	0.003	T	0.20538	-1.0272	10	0.07482	T	0.82	-11.9698	9.661	0.39954	0.1578:0.0:0.8422:0.0	.	102	Q9H3E2	SNX25_HUMAN	K	102	ENSP00000426255:R102K;ENSP00000264694:R102K	ENSP00000264694:R102K	R	+	2	0	SNX25	186422651	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.311000	0.51919	1.357000	0.45904	0.491000	0.48974	AGA		0.413	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		6	98	0	0	0	1	0	6	98				
EPHB4	2050	broad.mit.edu	37	7	100410812	100410812	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100410812T>G	ENST00000358173.3	-	11	2243	c.1775A>C	c.(1774-1776)gAc>gCc	p.D592A	EPHB4_ENST00000477446.1_5'Flank|EPHB4_ENST00000360620.3_Missense_Mutation_p.D592A	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	592					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGTGAAGGGGTCGATGTAGAC	0.507																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(1774-1776)gAc>gCc		EPH receptor B4							115.0	101.0	106.0					7																	100410812		2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100410812T>G	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1775A>C	7.37:g.100410812T>G	ENSP00000350896:p.Asp592Ala					EPHB4_ENST00000360620.3_Missense_Mutation_p.D592A	p.D592A	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			11	2243	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		592					B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.1775A>C	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.749744	0.89753	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.30182	1.54;1.54	5.25	5.25	0.73442	Protein kinase-like domain (1);	0.000000	0.56097	D	0.000023	T	0.64068	0.2565	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.73572	-0.3940	10	0.87932	D	0	.	13.3877	0.60805	0.0:0.0:0.0:1.0	.	592;592	Q96L35;P54760	.;EPHB4_HUMAN	A	592	ENSP00000353833:D592A;ENSP00000350896:D592A	ENSP00000350896:D592A	D	-	2	0	EPHB4	100248748	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.908000	0.87438	2.107000	0.64212	0.528000	0.53228	GAC		0.507	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		9	65	0	0	0	1	0	9	65				
TBX5	6910	broad.mit.edu	37	12	114841573	114841573	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:114841573G>A	ENST00000310346.4	-	2	797	c.131C>T	c.(130-132)gCc>gTc	p.A44V	TBX5_ENST00000405440.2_Missense_Mutation_p.A44V|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000349716.5_Intron|TBX5_ENST00000526441.1_Missense_Mutation_p.A44V	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	44				GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGTGAAGGCGGCCTGCGGGGA	0.647																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(130-132)gCc>gTc		T-box 5							41.0	51.0	48.0					12																	114841573		2200	4298	6498	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114841573G>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.131C>T	12.37:g.114841573G>A	ENSP00000309913:p.Ala44Val					TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000405440.2_Missense_Mutation_p.A44V|TBX5_ENST00000349716.5_Intron|TBX5_ENST00000526441.1_Missense_Mutation_p.A44V	p.A44V	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	2	797	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		44	GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592).				A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.131C>T	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841229	0.71488	.	.	ENSG00000089225	ENST00000310346;ENST00000405440;ENST00000526441	D;D;D	0.87887	-2.31;-2.31;-2.25	5.41	5.41	0.78517	.	0.306880	0.35870	N	0.002922	T	0.81602	0.4857	N	0.24115	0.695	0.47476	D	0.999438	B;B	0.28584	0.216;0.183	B;B	0.31101	0.124;0.039	T	0.77606	-0.2525	10	0.32370	T	0.25	.	19.2039	0.93722	0.0:0.0:1.0:0.0	.	44;44	Q99593-2;Q99593	.;TBX5_HUMAN	V	44	ENSP00000309913:A44V;ENSP00000384152:A44V;ENSP00000433292:A44V	ENSP00000309913:A44V	A	-	2	0	TBX5	113325956	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.527000	0.73803	2.523000	0.85059	0.655000	0.94253	GCC		0.647	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		28	125	0	0	0	1	0	28	125				
DACH1	1602	broad.mit.edu	37	13	72440846	72440846	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:72440846G>C	ENST00000359684.2	-	1	61	c.62C>G	c.(61-63)tCc>tGc	p.S21C	DACH1_ENST00000313174.7_Missense_Mutation_p.S21C|DACH1_ENST00000354591.4_Missense_Mutation_p.S21C|DACH1_ENST00000305425.4_Missense_Mutation_p.S21C			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	21					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGCAGACGTGGAGATTGGGGG	0.632																																						ENST00000305425.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(61-63)tCc>tGc		dachshund homolog 1 (Drosophila)							25.0	33.0	30.0					13																	72440846		2016	4177	6193	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72440846G>C	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.62C>G	13.37:g.72440846G>C	ENSP00000352712:p.Ser21Cys					DACH1_ENST00000354591.4_Missense_Mutation_p.S21C|DACH1_ENST00000359684.2_Missense_Mutation_p.S21C|DACH1_ENST00000313174.7_Missense_Mutation_p.S21C	p.S21C	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	1	484	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	21					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.62C>G		.	.	.	.	.	.	.	.	.	.	G	14.39	2.521462	0.44866	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.44881	0.96;0.91;0.95;1.03	3.22	3.22	0.36961	.	0.000000	0.41097	U	0.000958	T	0.49287	0.1548	N	0.24115	0.695	0.42438	D	0.992705	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.79784	0.993;0.993;0.987	T	0.57808	-0.7747	10	0.87932	D	0	-3.6427	14.5579	0.68115	0.0:0.0:1.0:0.0	.	21;21;21	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	C	21	ENSP00000304994:S21C;ENSP00000318506:S21C;ENSP00000346604:S21C;ENSP00000352712:S21C	ENSP00000304994:S21C	S	-	2	0	DACH1	71338847	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.483000	0.90442	1.607000	0.50170	0.462000	0.41574	TCC		0.632	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		12	24	0	0	0	1	0	12	24				
MERTK	10461	broad.mit.edu	37	2	112779062	112779062	+	Silent	SNP	C	C	T	rs149178674		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:112779062C>T	ENST00000295408.4	+	17	2510	c.2253C>T	c.(2251-2253)ggC>ggT	p.G751G	MERTK_ENST00000421804.2_Silent_p.G751G|MERTK_ENST00000409780.1_Silent_p.G575G			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	751	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G751G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTTACAGTGGCGATTATTACC	0.478																																						ENST00000295408.4																			1	Substitution - coding silent(1)	p.G751G(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2251-2253)ggC>ggT		c-mer proto-oncogene tyrosine kinase		C		1,4405	2.1+/-5.4	0,1,2202	151.0	145.0	147.0		2253	-10.5	0.1	2	dbSNP_134	147	0,8600		0,0,4300	no	coding-synonymous	MERTK	NM_006343.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		751/1000	112779062	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112779062C>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2253C>T	2.37:g.112779062C>T						MERTK_ENST00000409780.1_Silent_p.G575G|MERTK_ENST00000421804.2_Silent_p.G751G	p.G751G			Q12866	MERTK_HUMAN			17	2510	+			751			Protein kinase.		Q9HBB4	Silent	SNP	ENST00000295408.4	37	c.2253C>T	CCDS2094.1																																																																																				0.478	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			40	100	0	0	0	1	0	40	100				
CCIN	881	broad.mit.edu	37	9	36169867	36169867	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:36169867T>C	ENST00000335119.2	+	1	479	c.368T>C	c.(367-369)tTc>tCc	p.F123S		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	123	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TGTAACGACTTCCTTATTAAG	0.502																																						ENST00000335119.2																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(367-369)tTc>tCc		calicin							134.0	117.0	123.0					9																	36169867		2203	4300	6503	SO:0001583	missense	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36169867T>C	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.368T>C	9.37:g.36169867T>C	ENSP00000334996:p.Phe123Ser						p.F123S	NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	479	+			123			BTB.		Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	c.368T>C	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.637742	0.47049	.	.	ENSG00000185972	ENST00000335119	T	0.73152	-0.72	5.54	5.54	0.83059	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.107759	0.41712	D	0.000838	T	0.76278	0.3965	M	0.87758	2.905	0.37870	D	0.930033	P	0.42456	0.78	B	0.42386	0.386	D	0.83439	0.0042	10	0.87932	D	0	.	12.3491	0.55139	0.0:0.0:0.0:1.0	.	123	Q13939	CALI_HUMAN	S	123	ENSP00000334996:F123S	ENSP00000334996:F123S	F	+	2	0	CCIN	36159867	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.167000	0.42415	2.235000	0.73313	0.460000	0.39030	TTC		0.502	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		8	120	0	0	0	1	0	8	120				
GSK3A	2931	broad.mit.edu	37	19	42744142	42744142	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:42744142C>T	ENST00000222330.3	-	2	563	c.436G>A	c.(436-438)Gcc>Acc	p.A146T	AC006486.1_ENST00000378108.1_5'Flank|GSK3A_ENST00000398249.4_Missense_Mutation_p.A64T|AC006486.9_ENST00000594664.1_Missense_Mutation_p.A59T	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	146	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.A146T(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				TTCTTGATGGCGACTAGTTCC	0.572																																						ENST00000398249.4																			1	Substitution - Missense(1)	p.A146T(1)	large_intestine(1)	endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(190-192)Gcc>Acc		glycogen synthase kinase 3 alpha							158.0	107.0	124.0					19																	42744142		2203	4300	6503	SO:0001583	missense	2931				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	g.chr19:42744142C>T		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.436G>A	19.37:g.42744142C>T	ENSP00000222330:p.Ala146Thr					GSK3A_ENST00000222330.3_Missense_Mutation_p.A146T|AC006486.9_ENST00000594664.1_Missense_Mutation_p.A59T	p.A64T			P49840	GSK3A_HUMAN			1	1903	-		Prostate(69;0.00682)	146			Gly-rich.		O14959	Missense_Mutation	SNP	ENST00000222330.3	37	c.190G>A	CCDS12599.1	.	.	.	.	.	.	.	.	.	.	C	35	5.565753	0.96540	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.74421	-0.84;-0.84	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89942	0.6861	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.92332	0.5874	10	0.87932	D	0	-3.3243	17.9284	0.88990	0.0:1.0:0.0:0.0	.	146;64	P49840;A8MT37	GSK3A_HUMAN;.	T	146;64;91	ENSP00000222330:A146T;ENSP00000381301:A64T	ENSP00000222330:A146T	A	-	1	0	GSK3A	47435982	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.273000	0.78527	2.622000	0.88805	0.555000	0.69702	GCC		0.572	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1			21	34	0	0	0	1	0	21	34				
NLRP1	22861	broad.mit.edu	37	17	5405138	5405138	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:5405138T>C	ENST00000262467.5	-	16	4697	c.4124A>G	c.(4123-4125)tAc>tGc	p.Y1375C		NM_001033053.2	NP_001028225.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	0	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGGGCACTAGTATCTCCTGGC	0.557																																						ENST00000262467.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4123-4125)tAc>tGc		NLR family, pyrin domain containing 1							128.0	107.0	114.0					17																	5405138		2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5405138T>C	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000262467.5:c.4124A>G	17.37:g.5405138T>C	ENSP00000262467:p.Tyr1375Cys						p.Y1375C	NM_001033053.2	NP_001028225.1	Q9C000	NALP1_HUMAN			16	4697	-		Colorectal(1115;3.48e-05)	0			CARD.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000262467.5	37	c.4124A>G	CCDS32537.1	.	.	.	.	.	.	.	.	.	.	C	4.783	0.145522	0.09134	.	.	ENSG00000091592	ENST00000544378;ENST00000262467	T;T	0.71934	-0.61;-0.61	3.23	-1.49	0.08718	.	.	.	.	.	T	0.44138	0.1279	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25502	-1.0130	9	0.72032	D	0.01	.	2.8171	0.05459	0.3755:0.2732:0.0:0.3513	.	1375	E9PE50	.	C	1375	ENSP00000442029:Y1375C;ENSP00000262467:Y1375C	ENSP00000262467:Y1375C	Y	-	2	0	NLRP1	5345862	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.991000	0.03728	-0.583000	0.05921	-1.023000	0.02433	TAC		0.557	NLRP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439513.1	NM_033004		4	62	0	0	0	1	0	4	62				
ZNF230	7773	broad.mit.edu	37	19	44513052	44513052	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:44513052G>A	ENST00000429154.2	+	3	354	c.126G>A	c.(124-126)acG>acA	p.T42T	ZNF230_ENST00000585632.1_Silent_p.T42T	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	42	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AGAACTTCACGAACCTGCTGT	0.517																																					GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(124-126)acG>acA		zinc finger protein 230							181.0	158.0	166.0					19																	44513052		2203	4300	6503	SO:0001819	synonymous_variant	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44513052G>A	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.126G>A	19.37:g.44513052G>A						ZNF230_ENST00000585632.1_Silent_p.T42T	p.T42T	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN			3	354	+		Prostate(69;0.0352)	42			KRAB.		O15322|Q504X7|Q86W84|Q9P1U6	Silent	SNP	ENST00000429154.2	37	c.126G>A	CCDS33044.1																																																																																				0.517	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			62	185	0	0	0	1	0	62	185				
HTR3C	170572	broad.mit.edu	37	3	183774697	183774697	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:183774697G>A	ENST00000318351.1	+	5	458	c.424G>A	c.(424-426)Gcc>Acc	p.A142T		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	142					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CGGTCTCACTGCCTATATCAG	0.493																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(424-426)Gcc>Acc		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic							176.0	152.0	160.0					3																	183774697		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183774697G>A	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.424G>A	3.37:g.183774697G>A	ENSP00000322617:p.Ala142Thr						p.A142T	NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		5	458	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		142					A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.424G>A	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	.	16.15	3.041706	0.55003	.	.	ENSG00000178084	ENST00000318351	T	0.79749	-1.3	4.79	2.83	0.33086	Neurotransmitter-gated ion-channel ligand-binding (3);	0.378656	0.26939	N	0.021721	T	0.80082	0.4558	M	0.82517	2.595	0.09310	N	1	B	0.24533	0.105	B	0.35413	0.202	T	0.73072	-0.4098	10	0.56958	D	0.05	-9.3378	2.7378	0.05245	0.2835:0.0:0.5013:0.2152	.	142	Q8WXA8	5HT3C_HUMAN	T	142	ENSP00000322617:A142T	ENSP00000322617:A142T	A	+	1	0	HTR3C	185257391	0.037000	0.19845	0.001000	0.08648	0.797000	0.45037	1.458000	0.35223	0.471000	0.27319	0.561000	0.74099	GCC		0.493	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		33	121	0	0	0	1	0	33	121				
NTPCR	84284	broad.mit.edu	37	1	233113938	233113938	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:233113938G>A	ENST00000366628.5	+	5	621	c.534G>A	c.(532-534)ctG>ctA	p.L178L	NTPCR_ENST00000490098.1_3'UTR	NM_032324.1	NP_115700.1	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	178						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|nucleoside-triphosphatase activity (GO:0017111)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(1)|ovary(1)	4						ACCACCTTCTGCCAGATATCG	0.517																																						ENST00000366628.4																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(532-534)ctG>ctA		nucleoside-triphosphatase, cancer-related							104.0	85.0	92.0					1																	233113938		2203	4300	6503	SO:0001819	synonymous_variant	84284						ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity	g.chr1:233113938G>A	BC005102	CCDS1597.1	1q42.2	2010-12-20	2010-12-20	2010-12-20	ENSG00000135778	ENSG00000135778	3.6.1.15		28204	protein-coding gene	gene with protein product	"""human cancer-related NTPase"""		"""chromosome 1 open reading frame 57"""	C1orf57		17291528	Standard	NM_032324		Approved	MGC13186, HCR-NTPase	uc001hvj.1	Q9BSD7	OTTHUMG00000037822	ENST00000366628.5:c.534G>A	1.37:g.233113938G>A						NTPCR_ENST00000490098.1_3'UTR	p.L178L	NM_032324.1	NP_115700.1	Q9BSD7	NTPCR_HUMAN			5	621	+			178						Silent	SNP	ENST00000366628.5	37	c.534G>A	CCDS1597.1																																																																																				0.517	NTPCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092324.2	NM_032324		6	36	0	0	0	1	0	6	36				
DYX1C1	161582	broad.mit.edu	37	15	55790030	55790030	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:55790030C>T	ENST00000321149.3	-	3	518	c.151G>A	c.(151-153)Gca>Aca	p.A51T	DYX1C1_ENST00000457155.2_Missense_Mutation_p.A51T|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Missense_Mutation_p.A51T|DYX1C1_ENST00000380679.1_Missense_Mutation_p.A51T|DYX1C1_ENST00000348518.3_Missense_Mutation_p.A51T	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	51	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.|Mediates interaction with ESR1 and STUB1.				cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TAAAGAAATGCCTCAAATAAA	0.393																																						ENST00000321149.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(151-153)Gca>Aca		dyslexia susceptibility 1 candidate 1							93.0	94.0	94.0					15																	55790030		2193	4292	6485	SO:0001583	missense	161582				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	g.chr15:55790030C>T		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.151G>A	15.37:g.55790030C>T	ENSP00000323275:p.Ala51Thr					DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000380679.1_Missense_Mutation_p.A51T|DYX1C1_ENST00000448430.2_Missense_Mutation_p.A51T|DYX1C1_ENST00000348518.3_Missense_Mutation_p.A51T|DYX1C1_ENST00000457155.2_Missense_Mutation_p.A51T	p.A51T	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)	3	518	-			51			CS.|Mediates interaction with ESR1 and STUB1.		Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	c.151G>A	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300092	0.60195	.	.	ENSG00000256061	ENST00000420792;ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	4.72	3.79	0.43588	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.436639	0.21358	U	0.075841	T	0.25531	0.0621	L	0.53249	1.67	0.22081	N	0.999377	P;P;P	0.47677	0.561;0.899;0.726	B;P;B	0.54210	0.406;0.745;0.294	T	0.03315	-1.1049	10	0.54805	T	0.06	.	13.9303	0.63991	0.0:0.8472:0.1528:0.0	.	51;51;51	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	T	51	ENSP00000403412:A51T;ENSP00000370054:A51T;ENSP00000402640:A51T;ENSP00000323275:A51T;ENSP00000299561:A51T	ENSP00000323275:A51T	A	-	1	0	DYX1C1	53577322	0.901000	0.30685	0.857000	0.33713	0.990000	0.78478	3.174000	0.50847	1.185000	0.42971	0.561000	0.74099	GCA		0.393	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		30	74	0	0	0	1	0	30	74				
FNDC3A	22862	broad.mit.edu	37	13	49775950	49775950	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:49775950A>G	ENST00000492622.2	+	24	3307	c.3002A>G	c.(3001-3003)tAc>tGc	p.Y1001C	FNDC3A_ENST00000541916.1_Missense_Mutation_p.Y1001C|FNDC3A_ENST00000398316.3_Missense_Mutation_p.Y945C	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1001	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GTATCCCTATACAGAGGACCA	0.328																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(3001-3003)tAc>tGc		fibronectin type III domain containing 3A							74.0	74.0	74.0					13																	49775950		2202	4300	6502	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49775950A>G	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3002A>G	13.37:g.49775950A>G	ENSP00000417257:p.Tyr1001Cys					FNDC3A_ENST00000398316.3_Missense_Mutation_p.Y945C|FNDC3A_ENST00000541916.1_Missense_Mutation_p.Y1001C	p.Y1001C	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	24	3307	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	1001			Fibronectin type-III 8.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.3002A>G	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735918	0.69189	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.56776	0.44;0.44;0.44	6.16	4.98	0.66077	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000011	T	0.74473	0.3721	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.77968	-0.2388	10	0.66056	D	0.02	-6.4661	11.6691	0.51391	0.9314:0.0:0.0686:0.0	.	945;1001	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	C	1001;937;1001;945	ENSP00000417257:Y1001C;ENSP00000441831:Y1001C;ENSP00000381362:Y945C	ENSP00000338579:Y937C	Y	+	2	0	FNDC3A	48673951	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.904000	0.92590	1.149000	0.42402	0.528000	0.53228	TAC		0.328	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		4	40	0	0	0	1	0	4	40				
COLGALT2	23127	broad.mit.edu	37	1	183909867	183909867	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:183909867A>T	ENST00000361927.4	-	11	1823	c.1452T>A	c.(1450-1452)aaT>aaA	p.N484K	COLGALT2_ENST00000367521.1_Missense_Mutation_p.N92K|COLGALT2_ENST00000486375.1_5'Flank|COLGALT2_ENST00000367520.3_Missense_Mutation_p.N221K|COLGALT2_ENST00000546159.1_Missense_Mutation_p.N484K	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	484					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										GGTTTGCCACATTGGGCACTG	0.483																																						ENST00000361927.4																			0											c.(1450-1452)aaT>aaA		collagen beta(1-O)galactosyltransferase 2							166.0	151.0	156.0					1																	183909867		2203	4300	6503	SO:0001583	missense	23127							g.chr1:183909867A>T	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1452T>A	1.37:g.183909867A>T	ENSP00000354960:p.Asn484Lys					COLGALT2_ENST00000367520.3_Missense_Mutation_p.N221K|COLGALT2_ENST00000546159.1_Missense_Mutation_p.N484K|COLGALT2_ENST00000367521.1_Missense_Mutation_p.N92K	p.N484K	NM_015101.2	NP_055916.1					11	1823	-								O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	c.1452T>A	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.446774	0.43429	.	.	ENSG00000198756	ENST00000546159;ENST00000361927;ENST00000367521;ENST00000367520	T;T	0.77098	-1.07;-1.07	5.54	-7.45	0.01374	.	0.353192	0.33854	N	0.004500	T	0.63616	0.2526	L	0.57536	1.79	0.37834	D	0.928835	P;B;B	0.43826	0.818;0.146;0.1	B;B;B	0.39935	0.228;0.314;0.098	T	0.64210	-0.6461	9	.	.	.	-25.5583	7.8005	0.29172	0.4061:0.2069:0.387:0.0	.	484;484;221	F5H3T5;Q8IYK4;Q5SXQ3	.;GT252_HUMAN;.	K	484;484;92;221	ENSP00000439112:N484K;ENSP00000354960:N484K	.	N	-	3	2	GLT25D2	182176490	0.000000	0.05858	0.231000	0.23993	0.759000	0.43091	-2.277000	0.01160	-1.423000	0.02002	0.533000	0.62120	AAT		0.483	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		28	80	0	0	0	1	0	28	80				
EEPD1	80820	broad.mit.edu	37	7	36338672	36338672	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:36338672T>C	ENST00000242108.4	+	8	2285	c.1567T>C	c.(1567-1569)Tct>Cct	p.S523P	EEPD1_ENST00000534978.1_Missense_Mutation_p.S523P	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	523					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GGATAACTGGTCTTGGGGCGG	0.592																																						ENST00000242108.4																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						c.(1567-1569)Tct>Cct		endonuclease/exonuclease/phosphatase family domain containing 1							94.0	87.0	89.0					7																	36338672		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36338672T>C	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1567T>C	7.37:g.36338672T>C	ENSP00000242108:p.Ser523Pro					EEPD1_ENST00000534978.1_Missense_Mutation_p.S523P	p.S523P	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN			8	2285	+			523					Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.1567T>C	CCDS34619.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.813409	0.90790	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	D;D	0.95482	-3.72;-3.72	5.17	5.17	0.71159	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.97059	0.9039	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97700	1.0184	10	0.72032	D	0.01	-28.3416	15.3376	0.74269	0.0:0.0:0.0:1.0	.	523	Q7L9B9	EEPD1_HUMAN	P	523	ENSP00000242108:S523P;ENSP00000442692:S523P	ENSP00000242108:S523P	S	+	1	0	EEPD1	36305197	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.689000	0.61723	2.077000	0.62373	0.379000	0.24179	TCT		0.592	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		7	130	0	0	0	1	0	7	130				
CRAT	1384	broad.mit.edu	37	9	131862173	131862173	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:131862173T>C	ENST00000318080.2	-	8	1351	c.1057A>G	c.(1057-1059)Acc>Gcc	p.T353A	CRAT_ENST00000464290.1_5'Flank|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	353					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TCCAGAAGGGTGACAATAGGG	0.562																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(1057-1059)Acc>Gcc		carnitine O-acetyltransferase	L-Carnitine(DB00583)						95.0	83.0	87.0					9																	131862173		2203	4300	6503	SO:0001583	missense	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131862173T>C	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.1057A>G	9.37:g.131862173T>C	ENSP00000315013:p.Thr353Ala					RP11-247A12.1_ENST00000434250.1_RNA	p.T353A	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	8	1351	-			353					Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	37	c.1057A>G	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	T	1.156	-0.645121	0.03531	.	.	ENSG00000095321	ENST00000318080	D	0.88124	-2.34	5.04	-8.17	0.01057	.	0.807059	0.11720	N	0.535995	T	0.59582	0.2204	N	0.02192	-0.645	0.22185	N	0.999305	B	0.02656	0.0	B	0.04013	0.001	T	0.58171	-0.7683	10	0.08381	T	0.77	-6.0978	8.5522	0.33458	0.2913:0.6043:0.0:0.1043	.	353	P43155	CACP_HUMAN	A	353	ENSP00000315013:T353A	ENSP00000315013:T353A	T	-	1	0	CRAT	130901994	0.027000	0.19231	0.000000	0.03702	0.074000	0.17049	0.153000	0.16323	-2.083000	0.00867	-0.516000	0.04426	ACC		0.562	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			4	120	0	0	0	1	0	4	120				
ATP6V1E1	529	broad.mit.edu	37	22	18111367	18111367	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:18111367A>G	ENST00000253413.5	-	1	216		c.e1+1		ATP6V1E1_ENST00000399798.2_Splice_Site|ATP6V1E1_ENST00000478963.1_Splice_Site|BCL2L13_ENST00000399782.1_5'Flank|ATP6V1E1_ENST00000399796.2_Splice_Site	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		CAAGCCCCTCACCTGCTTTTG	0.632																																						ENST00000253413.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.e1+1		ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1							114.0	124.0	121.0					22																	18111367		2203	4300	6503	SO:0001630	splice_region_variant	529				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr22:18111367A>G	X76228	CCDS13745.1, CCDS42977.1, CCDS42978.1	22q11.2	2010-04-21	2006-01-13	2002-06-21	ENSG00000131100	ENSG00000131100	3.6.3.14	"""ATPases / V-type"""	857	protein-coding gene	gene with protein product		108746	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD"", ""ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1"""	ATP6E, ATP6V1E		8004105, 8250920	Standard	NM_001696		Approved	P31, Vma4, ATP6E2	uc002zmr.1	P36543	OTTHUMG00000059320	ENST00000253413.5:c.33+1T>C	22.37:g.18111367A>G						ATP6V1E1_ENST00000399796.2_Splice_Site|ATP6V1E1_ENST00000478963.1_Splice_Site|ATP6V1E1_ENST00000399798.2_Splice_Site		NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN		Lung(27;0.19)	1	216	-		all_epithelial(15;0.206)						A8MUE4|A8MUN4	Splice_Site	SNP	ENST00000253413.5	37		CCDS13745.1	.	.	.	.	.	.	.	.	.	.	A	19.70	3.877066	0.72180	.	.	ENSG00000131100	ENST00000253413;ENST00000399796;ENST00000399798	.	.	.	5.07	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4361	0.32789	0.9103:0.0:0.0897:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP6V1E1	16491367	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	4.478000	0.60230	0.965000	0.38133	0.533000	0.62120	.		0.632	ATP6V1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131790.3	NM_001696	Intron	49	266	0	0	0	1	0	49	266				
SYCP2	10388	broad.mit.edu	37	20	58461018	58461018	+	Splice_Site	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:58461018C>T	ENST00000357552.3	-	26	2719	c.2494G>A	c.(2494-2496)Ggt>Agt	p.G832S	SYCP2_ENST00000371001.2_Splice_Site_p.G832S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	832					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTTGAAAAACCACTGTAAAAA	0.269																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.e26-1		synaptonemal complex protein 2							52.0	49.0	50.0					20																	58461018		2200	4290	6490	SO:0001630	splice_region_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58461018C>T	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2493-1G>A	20.37:g.58461018C>T						SYCP2_ENST00000371001.2_Splice_Site_p.G832_splice	p.G832_splice			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		26	2719	-	all_lung(29;0.00344)		832					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Splice_Site	SNP	ENST00000357552.3	37	c.2492_splice	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	5.655	0.305556	0.10678	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.16897	2.57;2.57;2.31	5.34	3.33	0.38152	.	0.751563	0.12499	N	0.463490	T	0.18467	0.0443	L	0.50333	1.59	0.09310	N	0.99999	P	0.44139	0.827	B	0.44044	0.439	T	0.08351	-1.0726	10	0.36615	T	0.2	-2.0E-4	7.8248	0.29309	0.0:0.741:0.1672:0.0918	.	832	Q9BX26	SYCP2_HUMAN	S	832	ENSP00000360040:G832S;ENSP00000350162:G832S;ENSP00000402456:G832S	ENSP00000350162:G832S	G	-	1	0	SYCP2	57894413	0.947000	0.32204	0.887000	0.34795	0.508000	0.34012	2.025000	0.41059	1.360000	0.45960	0.460000	0.39030	GGT		0.269	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	Missense_Mutation	4	23	0	0	0	1	0	4	23				
NT5C1B	93034	broad.mit.edu	37	2	18765359	18765359	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:18765359C>T	ENST00000359846.2	-	6	1143	c.1066G>A	c.(1066-1068)Gtc>Atc	p.V356I	NT5C1B_ENST00000600945.1_Missense_Mutation_p.V356I|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.V356I|NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000304081.4_Missense_Mutation_p.V296I|RNU6-1215P_ENST00000384441.1_RNA	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	356					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AATACCTTGACGAAGCGGAAC	0.572																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(886-888)Gtc>Atc		5'-nucleotidase, cytosolic IB							98.0	96.0	97.0					2																	18765359		2203	4300	6503	SO:0001583	missense	93034							g.chr2:18765359C>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1066G>A	2.37:g.18765359C>T	ENSP00000352904:p.Val356Ile					NT5C1B_ENST00000600945.1_Missense_Mutation_p.V356I|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.V356I|NT5C1B_ENST00000359846.2_Missense_Mutation_p.V356I	p.V296I	NM_033253.3	NP_150278.2					5	986	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.886G>A	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240495	0.79912	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.92099	-2.97	5.58	4.69	0.59074	.	0.112301	0.64402	D	0.000012	D	0.91523	0.7323	L	0.35414	1.06	0.58432	D	0.99999	D;D;D;P;D;P;D;D;D	0.60575	0.988;0.988;0.988;0.929;0.977;0.895;0.986;0.988;0.985	P;P;P;P;P;B;P;P;P	0.58130	0.747;0.833;0.747;0.572;0.636;0.436;0.631;0.833;0.704	D	0.88801	0.3285	10	0.23302	T	0.38	-1.4073	15.3833	0.74676	0.0:0.9298:0.0:0.0702	.	339;373;296;339;298;148;296;356;356	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-3;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;.;5NT1B_HUMAN;.	I	356;298;296;356	ENSP00000412639:V298I	ENSP00000305979:V296I	V	-	1	0	NT5C1B-RDH14;NT5C1B	18628840	1.000000	0.71417	0.982000	0.44146	0.653000	0.38743	5.647000	0.67923	2.779000	0.95612	0.650000	0.86243	GTC		0.572	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			30	107	0	0	0	1	0	30	107				
EPHB2	2048	broad.mit.edu	37	1	23240212	23240212	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:23240212A>G	ENST00000400191.3	+	17	3035	c.3017A>G	c.(3016-3018)gAc>gGc	p.D1006G	RP1-74M1.3_ENST00000610135.1_lincRNA|EPHB2_ENST00000374627.1_3'UTR|EPHB2_ENST00000374632.3_3'UTR|EPHB2_ENST00000374630.3_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	1006					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAGCCACGAGACGTCACCAAG	0.562																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(3016-3018)gAc>gGc		EPH receptor B2							40.0	47.0	45.0					1																	23240212		1568	3581	5149	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23240212A>G	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.3017A>G	1.37:g.23240212A>G	ENSP00000383053:p.Asp1006Gly					EPHB2_ENST00000374627.1_3'UTR|EPHB2_ENST00000374632.3_3'UTR|EPHB2_ENST00000374630.3_3'UTR	p.D1006G	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	17	3035	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	1006					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.3017A>G		.	.	.	.	.	.	.	.	.	.	A	13.64	2.296673	0.40594	.	.	ENSG00000133216	ENST00000400191	T	0.73258	-0.73	5.47	3.09	0.35607	.	1.389300	0.05313	U	0.525143	T	0.63861	0.2547	.	.	.	0.44079	D	0.996834	B	0.02656	0.0	B	0.01281	0.0	T	0.51403	-0.8710	9	0.87932	D	0	.	7.1753	0.25740	0.7683:0.153:0.0787:0.0	.	1006	P29323	EPHB2_HUMAN	G	1006	ENSP00000383053:D1006G	ENSP00000383053:D1006G	D	+	2	0	EPHB2	23112799	0.023000	0.18921	0.988000	0.46212	0.833000	0.47200	0.722000	0.25925	0.370000	0.24538	0.449000	0.29647	GAC		0.562	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		5	23	0	0	0	1	0	5	23				
ABL1	25	broad.mit.edu	37	9	133729579	133729579	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:133729579T>C	ENST00000318560.5	+	2	589	c.208T>C	c.(208-210)Tat>Cat	p.Y70H		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	70	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CGTTGCACTGTATGATTTTGT	0.478			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(208-210)Tat>Cat		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						127.0	125.0	126.0					9																	133729579		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133729579T>C	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.208T>C	9.37:g.133729579T>C	ENSP00000323315:p.Tyr70His						p.Y70H	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	2	589	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	70			SH3.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.208T>C	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.781884	0.90282	.	.	ENSG00000097007	ENST00000372348;ENST00000438426;ENST00000318560	T;T	0.66995	-0.24;-0.24	5.61	4.45	0.53987	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.81331	0.4800	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82993	-0.0181	10	0.87932	D	0	.	12.1959	0.54296	0.0:0.0:0.1428:0.8571	.	70;107	P00519;Q59FK4	ABL1_HUMAN;.	H	89;116;70	ENSP00000361423:Y89H;ENSP00000323315:Y70H	ENSP00000323315:Y70H	Y	+	1	0	ABL1	132719400	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.993000	0.88291	0.957000	0.37930	0.514000	0.50259	TAT		0.478	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		62	164	0	0	0	1	0	62	164				
RIMS2	9699	broad.mit.edu	37	8	104831813	104831813	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:104831813T>A	ENST00000507740.1	+	1	314	c.78T>A	c.(76-78)aaT>aaA	p.N26K	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Missense_Mutation_p.N26K	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCCACCAAATATCTTACAAA	0.323										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(76-78)aaT>aaA		regulating synaptic membrane exocytosis 2							91.0	92.0	92.0					8																	104831813		1816	4080	5896	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104831813T>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000507740.1:c.78T>A	8.37:g.104831813T>A	ENSP00000423559:p.Asn26Lys	HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Missense_Mutation_p.N26K|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Intron	p.N26K	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		1	314	+			1018			RabBD.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000507740.1	37	c.78T>A	CCDS43761.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.912438	0.52439	.	.	ENSG00000176406	ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894	T;T;T;T	0.17054	2.3;2.41;2.37;2.3	5.71	5.71	0.89125	.	.	.	.	.	T	0.20170	0.0485	N	0.08118	0	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.72982	0.979;0.979	T	0.14254	-1.0479	9	0.62326	D	0.03	.	9.1772	0.37118	0.0:0.1409:0.0:0.8591	.	26;26	Q9UQ26-1;Q9UQ26-3	.;.	K	26	ENSP00000425205:N26K;ENSP00000262231:N26K;ENSP00000423559:N26K;ENSP00000386228:N26K	ENSP00000262231:N26K	N	+	3	2	RIMS2	104900989	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.977000	0.49297	2.168000	0.68352	0.477000	0.44152	AAT		0.323	RIMS2-005	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367215.1	NM_001100117		8	70	0	0	0	1	0	8	70				
PLCB4	5332	broad.mit.edu	37	20	9364867	9364867	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:9364867G>A	ENST00000378493.1	+	11	888	c.873G>A	c.(871-873)ggG>ggA	p.G291G	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Silent_p.G291G|PLCB4_ENST00000414679.2_Silent_p.G291G|PLCB4_ENST00000278655.4_Silent_p.G291G|PLCB4_ENST00000334005.3_Silent_p.G291G|PLCB4_ENST00000378473.3_Silent_p.G291G			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	291					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAAGTGATGGGTTTTGCAGAT	0.418																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(871-873)ggG>ggA		phospholipase C, beta 4							171.0	167.0	168.0					20																	9364867		2203	4300	6503	SO:0001819	synonymous_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9364867G>A		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.873G>A	20.37:g.9364867G>A						PLCB4_ENST00000278655.4_Silent_p.G291G|PLCB4_ENST00000414679.2_Silent_p.G291G|PLCB4_ENST00000378493.1_Silent_p.G291G|PLCB4_ENST00000378473.3_Silent_p.G291G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.G291G	p.G291G	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			11	888	+			291					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.873G>A	CCDS13105.1																																																																																				0.418	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			23	86	0	0	0	1	0	23	86				
GALNTL6	442117	broad.mit.edu	37	4	173961102	173961102	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:173961102C>A	ENST00000506823.1	+	13	2314	c.1657C>A	c.(1657-1659)Cct>Act	p.P553T	GALNTL6_ENST00000508122.1_Missense_Mutation_p.P536T	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	553	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ATTATTCCATCCTGTGAGCAA	0.428																																						ENST00000506823.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						c.(1657-1659)Cct>Act		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6							101.0	91.0	95.0					4																	173961102		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173961102C>A		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1657C>A	4.37:g.173961102C>A	ENSP00000423313:p.Pro553Thr					GALNTL6_ENST00000508122.1_Missense_Mutation_p.P536T	p.P553T	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN			13	2314	+			553			Ricin B-type lectin.		Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.1657C>A	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	C	6.567	0.472968	0.12461	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.26660	1.72;1.72	5.7	3.02	0.34903	Ricin B-related lectin (1);Ricin B lectin (3);	0.423630	0.22695	N	0.056766	T	0.25419	0.0618	L	0.61387	1.9	0.48341	D	0.999635	P	0.39920	0.695	B	0.43301	0.415	T	0.06862	-1.0803	10	0.08599	T	0.76	.	8.3597	0.32351	0.127:0.7398:0.0:0.1332	.	553	Q49A17	GLTL6_HUMAN	T	553;536	ENSP00000423313:P553T;ENSP00000423827:P536T	ENSP00000423313:P553T	P	+	1	0	GALNTL6	174197677	1.000000	0.71417	0.990000	0.47175	0.281000	0.26958	2.945000	0.49043	0.325000	0.23359	-0.137000	0.14449	CCT		0.428	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		15	60	1	0	1.45105e-14	1	1.51837e-14	15	60				
IPO4	79711	broad.mit.edu	37	14	24650800	24650800	+	Silent	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:24650800G>T	ENST00000354464.6	-	28	3140	c.2964C>A	c.(2962-2964)gcC>gcA	p.A988A	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	988					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCAGTGGCAGGGCATGCAGTA	0.622																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(2962-2964)gcC>gcA		importin 4							43.0	56.0	51.0					14																	24650800		2129	4258	6387	SO:0001819	synonymous_variant	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24650800G>T	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2964C>A	14.37:g.24650800G>T						RP11-468E2.2_ENST00000561419.1_3'UTR	p.A988A	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	28	3140	-			988					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	ENST00000354464.6	37	c.2964C>A	CCDS9616.1																																																																																				0.622	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		4	27	1	0	0.00024832	1	0.000251724	4	27				
KRTAP4-11	653240	broad.mit.edu	37	17	39274132	39274132	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:39274132G>A	ENST00000391413.2	-	1	474	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	146	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			caagaggggcggcagcagctg	0.657																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(436-438)Cgc>Tgc		keratin associated protein 4-11																																				SO:0001583	missense	653240					keratin filament		g.chr17:39274132G>A	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.436C>T	17.37:g.39274132G>A	ENSP00000375232:p.Arg146Cys						p.R146C	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	474	-		Breast(137;0.000496)	146			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.436C>T	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.24	2.179095	0.38511	.	.	ENSG00000212721	ENST00000391413	T	0.01538	4.79	4.57	-2.76	0.05896	.	0.000000	0.30714	U	0.009027	T	0.02929	0.0087	M	0.82132	2.575	0.09310	N	1	B	0.27997	0.197	B	0.23018	0.043	T	0.31558	-0.9939	10	0.56958	D	0.05	.	11.6836	0.51472	0.0:0.5692:0.3083:0.1226	.	146	Q9BYQ6	KR411_HUMAN	C	146	ENSP00000375232:R146C	ENSP00000375232:R146C	R	-	1	0	KRTAP4-11	36527658	.	.	0.005000	0.12908	0.303000	0.27691	.	.	-0.302000	0.08869	0.609000	0.83330	CGC		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			12	54	0	0	0	1	0	12	54				
EXOC6B	23233	broad.mit.edu	37	2	72740281	72740281	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:72740281C>T	ENST00000272427.6	-	11	1277	c.1147G>A	c.(1147-1149)Gca>Aca	p.A383T	EXOC6B_ENST00000410104.1_Missense_Mutation_p.A383T	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	383					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CGGAGTGCTGCGATGGTTTTT	0.383																																						ENST00000272427.6																			0				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						c.(1147-1149)Gca>Aca		exocyst complex component 6B							138.0	133.0	135.0					2																	72740281		1881	4109	5990	SO:0001583	missense	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72740281C>T	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.1147G>A	2.37:g.72740281C>T	ENSP00000272427:p.Ala383Thr					EXOC6B_ENST00000410104.1_Missense_Mutation_p.A383T	p.A383T	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN			11	1277	-			383					B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	c.1147G>A	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613367	0.66672	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.29917	1.55;1.55	5.25	5.25	0.73442	.	0.053635	0.85682	D	0.000000	T	0.49745	0.1575	L	0.58969	1.84	0.80722	D	1	D;P	0.76494	0.999;0.764	D;B	0.71184	0.972;0.313	T	0.22941	-1.0202	10	0.17369	T	0.5	.	17.5901	0.87993	0.0:1.0:0.0:0.0	.	383;383	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	T	383	ENSP00000272427:A383T;ENSP00000386698:A383T	ENSP00000272427:A383T	A	-	1	0	EXOC6B	72593789	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.531000	0.81973	2.734000	0.93682	0.563000	0.77884	GCA		0.383	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		15	32	0	0	0	1	0	15	32				
PLAC8	51316	broad.mit.edu	37	4	84026117	84026117	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:84026117T>C	ENST00000509973.1	-	2	127	c.4A>G	c.(4-6)Aat>Gat	p.N2D	PLAC8_ENST00000426923.2_Missense_Mutation_p.N59D|PLAC8_ENST00000411416.2_Missense_Mutation_p.N59D|PLAC8_ENST00000515389.1_Intron|PLAC8_ENST00000311507.4_Missense_Mutation_p.N59D|PLAC8_ENST00000505406.1_Missense_Mutation_p.N59D			Q9UHV8	PP13_HUMAN	placenta-specific 8	0					apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				CAGCATTCATTCATATCAGCT	0.488																																						ENST00000426923.2																			0				large_intestine(2)|lung(3)|ovary(1)	6						c.(175-177)Aat>Gat		placenta-specific 8							108.0	95.0	99.0					4																	84026117		2203	4300	6503	SO:0001583	missense	51316							g.chr4:84026117T>C	AF208846	CCDS3601.1	4q21.22	2006-05-20			ENSG00000145287	ENSG00000145287			19254	protein-coding gene	gene with protein product		607515				12758124, 12384430	Standard	NM_016619		Approved	onzin, C15	uc003hoe.3	Q9NZF1	OTTHUMG00000130294	ENST00000509973.1:c.4A>G	4.37:g.84026117T>C	ENSP00000423459:p.Asn2Asp					PLAC8_ENST00000311507.4_Missense_Mutation_p.N59D|PLAC8_ENST00000411416.2_Missense_Mutation_p.N59D|PLAC8_ENST00000505406.1_Missense_Mutation_p.N59D|PLAC8_ENST00000509973.1_Missense_Mutation_p.N2D|PLAC8_ENST00000515389.1_Intron	p.N59D	NM_001130715.1	NP_001124187.1	Q9NZF1	PLAC8_HUMAN			3	253	-		Hepatocellular(203;0.114)	59					C5HZ15	Missense_Mutation	SNP	ENST00000509973.1	37	c.175A>G		.	.	.	.	.	.	.	.	.	.	T	8.193	0.796353	0.16327	.	.	ENSG00000145287	ENST00000311507;ENST00000411416;ENST00000509973;ENST00000505406;ENST00000426923	.	.	.	5.59	4.41	0.53225	.	0.099088	0.64402	D	0.000002	T	0.37732	0.1014	N	0.26162	0.8	0.38935	D	0.958037	B	0.12013	0.005	B	0.12156	0.007	T	0.16719	-1.0393	9	0.09843	T	0.71	-15.7803	7.4398	0.27176	0.0:0.1688:0.0:0.8312	.	59	Q9NZF1	PLAC8_HUMAN	D	59;59;2;59;59	.	ENSP00000309509:N59D	N	-	1	0	PLAC8	84245141	1.000000	0.71417	0.996000	0.52242	0.084000	0.17831	0.751000	0.26348	1.058000	0.40530	0.459000	0.35465	AAT		0.488	PLAC8-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363078.1	NM_016619		38	67	0	0	0	1	0	38	67				
OTUD7B	56957	broad.mit.edu	37	1	149949445	149949445	+	Start_Codon_SNP	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:149949445T>C	ENST00000369135.4	-	2	295	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	1					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TCCAGGGTCATGTGATCCTCA	0.468																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1-3)Atg>Gtg		OTU domain containing 7B							113.0	109.0	110.0					1																	149949445		1976	4162	6138	SO:0001582	initiator_codon_variant	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149949445T>C	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1A>G	1.37:g.149949445T>C	ENSP00000358131:p.Met1Val						p.M1V	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		2	295	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		1					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Translation_Start_Site	SNP	ENST00000369135.4	37	c.1A>G	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418265	0.83449	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.36157	1.27;1.48	5.16	5.16	0.70880	UBA-like (1);	0.196730	0.53938	D	0.000047	T	0.40171	0.1106	.	.	.	0.26091	N	0.980951	D	0.56746	0.977	P	0.61070	0.883	T	0.26087	-1.0113	8	.	.	.	-1.0865	13.0018	0.58681	0.0:0.0:0.0:1.0	.	1	Q6GQQ9	OTU7B_HUMAN	V	1	ENSP00000358131:M1V;ENSP00000408231:M1V	.	M	-	1	0	OTUD7B	148216069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.468000	0.66743	2.180000	0.69256	0.533000	0.62120	ATG		0.468	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205	Missense_Mutation	25	57	0	0	0	1	0	25	57				
POLD3	10714	broad.mit.edu	37	11	74347277	74347277	+	Silent	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:74347277C>A	ENST00000263681.2	+	11	1284	c.1155C>A	c.(1153-1155)cgC>cgA	p.R385R	POLD3_ENST00000532497.1_Silent_p.R279R|POLD3_ENST00000527458.1_Silent_p.R346R	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	385					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					AACGAAAACGCGTACTAAAAT	0.368																																						ENST00000263681.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18						c.(1153-1155)cgC>cgA		polymerase (DNA-directed), delta 3, accessory subunit							83.0	80.0	81.0					11																	74347277		2200	4293	6493	SO:0001819	synonymous_variant	10714				base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:74347277C>A	D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.1155C>A	11.37:g.74347277C>A						POLD3_ENST00000527458.1_Silent_p.R346R|POLD3_ENST00000532497.1_Silent_p.R279R	p.R385R	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN			11	1284	+	Breast(11;3.21e-06)		385					B7ZAI6|Q32MZ9|Q32N00	Silent	SNP	ENST00000263681.2	37	c.1155C>A	CCDS8233.1	.	.	.	.	.	.	.	.	.	.	C	8.094	0.775134	0.16051	.	.	ENSG00000077514	ENST00000524752	.	.	.	5.7	-11.4	0.00090	.	.	.	.	.	T	0.34106	0.0886	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43686	-0.9376	4	.	.	.	-18.0768	3.786	0.08700	0.1431:0.354:0.3549:0.148	.	.	.	.	E	109	.	.	A	+	2	0	POLD3	74024925	0.001000	0.12720	0.592000	0.28758	0.816000	0.46133	-3.226000	0.00550	-1.808000	0.01234	-0.459000	0.05422	GCG		0.368	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591		19	36	1	0	3.62473e-10	1	3.7563e-10	19	36				
PKHD1L1	93035	broad.mit.edu	37	8	110457059	110457059	+	Missense_Mutation	SNP	G	G	A	rs373094487		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:110457059G>A	ENST00000378402.5	+	38	5065	c.4961G>A	c.(4960-4962)cGa>cAa	p.R1654Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1654					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGATAGGCGATTTGTACTT	0.433										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(4960-4962)cGa>cAa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1		G	GLN/ARG	1,3879		0,1,1939	184.0	183.0	183.0		4961	5.1	0.9	8		183	0,8266		0,0,4133	no	missense	PKHD1L1	NM_177531.4	43	0,1,6072	AA,AG,GG		0.0,0.0258,0.0082	possibly-damaging	1654/4244	110457059	1,12145	1940	4133	6073	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457059G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4961G>A	8.37:g.110457059G>A	ENSP00000367655:p.Arg1654Gln	HNSCC(38;0.096)					p.R1654Q	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5065	+			1654					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.4961G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238882	0.39598	2.58E-4	0.0	ENSG00000205038	ENST00000378402	D	0.85702	-2.02	6.03	5.13	0.70059	Immunoglobulin-like fold (1);	0.079672	0.50627	D	0.000110	T	0.82240	0.4994	M	0.67953	2.075	0.34033	D	0.654049	P	0.46987	0.888	B	0.39027	0.288	D	0.87222	0.2254	10	0.46703	T	0.11	.	11.6958	0.51542	0.0903:0.0:0.9097:0.0	.	1654	Q86WI1	PKHL1_HUMAN	Q	1654	ENSP00000367655:R1654Q	ENSP00000367655:R1654Q	R	+	2	0	PKHD1L1	110526235	0.998000	0.40836	0.871000	0.34182	0.145000	0.21501	4.003000	0.57061	1.469000	0.48083	0.655000	0.94253	CGA		0.433	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		80	270	0	0	0	1	0	80	270				
ZNF518A	9849	broad.mit.edu	37	10	97917855	97917855	+	RNA	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:97917855T>C	ENST00000534948.1	+	0	2633							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AGGTATTAGGTACCACCATTA	0.383																																						ENST00000534948.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24								zinc finger protein 518A							67.0	65.0	65.0					10																	97917855		1973	4170	6143			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97917855T>C	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97917855T>C										Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	0	2633	+		Colorectal(252;0.0815)						A0PJI5|O15044|Q32MP4	RNA	SNP	ENST00000534948.1	37																																																																																						0.383	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		16	43	0	0	0	1	0	16	43				
BRAP	8315	broad.mit.edu	37	12	112097135	112097135	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:112097135A>G	ENST00000327551.6	-	8	1037	c.897T>C	c.(895-897)tgT>tgC	p.C299C	BRAP_ENST00000419234.4_Silent_p.C329C|BRAP_ENST00000539060.1_Silent_p.C150C			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	220					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						CGCATATTAAACAAATCCAAA	0.463																																					Pancreas(146;846 1904 7830 25130 26065)	ENST00000419234.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(985-987)tgT>tgC		BRCA1 associated protein							92.0	84.0	87.0					12																	112097135		2203	4300	6503	SO:0001819	synonymous_variant	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112097135A>G	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.897T>C	12.37:g.112097135A>G						BRAP_ENST00000539060.1_Silent_p.C150C|BRAP_ENST00000327551.6_Silent_p.C299C	p.C329C	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN			8	1180	-			329					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Silent	SNP	ENST00000327551.6	37	c.987T>C																																																																																					0.463	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2			4	110	0	0	0	1	0	4	110				
VLDLR	7436	broad.mit.edu	37	9	2648271	2648271	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:2648271T>C	ENST00000382100.3	+	13	2242	c.1886T>C	c.(1885-1887)tTg>tCg	p.L629S	VLDLR_ENST00000382099.2_Missense_Mutation_p.L629S	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	629					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		AGCGTGGACTTGAATGGCCAA	0.403																																						ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1885-1887)tTg>tCg		very low density lipoprotein receptor							143.0	135.0	138.0					9																	2648271		2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2648271T>C		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.1886T>C	9.37:g.2648271T>C	ENSP00000371532:p.Leu629Ser					VLDLR_ENST00000382099.2_Missense_Mutation_p.L629S	p.L629S	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	13	2242	+			629					B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.1886T>C	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.738271	0.89573	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.97575	-4.44;-4.44	5.79	5.79	0.91817	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.41097	D	0.000954	D	0.98626	0.9540	M	0.88512	2.96	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.989	D;D;D	0.97110	0.999;1.0;0.991	D	0.99636	1.0987	10	0.66056	D	0.02	.	16.1329	0.81458	0.0:0.0:0.0:1.0	.	629;629;629	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	S	629;629;508	ENSP00000371532:L629S;ENSP00000371531:L629S	ENSP00000371524:L508S	L	+	2	0	VLDLR	2638271	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.013000	0.88655	2.208000	0.71279	0.533000	0.62120	TTG		0.403	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		4	120	0	0	0	1	0	4	120				
BRD3	8019	broad.mit.edu	37	9	136905384	136905384	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:136905384G>C	ENST00000303407.7	-	9	1600	c.1415C>G	c.(1414-1416)gCc>gGc	p.A472G	BRD3_ENST00000371834.2_Missense_Mutation_p.A472G|BRD3_ENST00000357885.2_Missense_Mutation_p.A472G|BRD3_ENST00000473349.1_Intron	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	472					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTCGTGCACGGCCTTCAGCTG	0.617			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000303407.7				Dom	yes		9	9q34	8019	T	bromodomain containing 3			E	C15orf55		lethal midline carcinoma of young people	BRD3/C15orf55(3)	0				kidney(1)|skin(1)|stomach(4)	6						c.(1414-1416)gCc>gGc		bromodomain containing 3							13.0	12.0	12.0					9																	136905384		2190	4292	6482	SO:0001583	missense	8019					nucleus	protein binding	g.chr9:136905384G>C		CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1415C>G	9.37:g.136905384G>C	ENSP00000305918:p.Ala472Gly					BRD3_ENST00000371834.2_Missense_Mutation_p.A472G|BRD3_ENST00000357885.2_Missense_Mutation_p.A472G|BRD3_ENST00000473349.1_Intron	p.A472G	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)	9	1600	-			472					B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	ENST00000303407.7	37	c.1415C>G	CCDS6980.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738750	0.69304	.	.	ENSG00000169925	ENST00000303407;ENST00000540795;ENST00000371834;ENST00000357885	T;T;T	0.15834	2.39;2.39;2.39	4.8	4.8	0.61643	.	0.142736	0.45361	D	0.000363	T	0.43277	0.1240	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.981	T	0.38672	-0.9650	10	0.54805	T	0.06	-19.2758	17.1886	0.86873	0.0:0.0:1.0:0.0	.	472;472	Q15059-2;Q15059	.;BRD3_HUMAN	G	472;151;472;472	ENSP00000305918:A472G;ENSP00000360900:A472G;ENSP00000350557:A472G	ENSP00000305918:A472G	A	-	2	0	BRD3	135895205	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.429000	0.97481	2.362000	0.80069	0.561000	0.74099	GCC		0.617	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055390.4	NM_007371		3	14	0	0	0	1	0	3	14				
PIP5K1C	23396	broad.mit.edu	37	19	3641708	3641708	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:3641708G>A	ENST00000335312.3	-	15	1870	c.1782C>T	c.(1780-1782)gaC>gaT	p.D594D	PIP5K1C_ENST00000537021.1_Silent_p.D594D|PIP5K1C_ENST00000539785.1_Silent_p.D594D|PIP5K1C_ENST00000589578.1_Silent_p.D594D	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	594					actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CTCACCCTGCGTCCTCCTCTT	0.652																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	ENST00000335312.3																			0				large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.(1780-1782)gaC>gaT		phosphatidylinositol-4-phosphate 5-kinase, type I, gamma							82.0	65.0	71.0					19																	3641708		2203	4300	6503	SO:0001819	synonymous_variant	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3641708G>A	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1782C>T	19.37:g.3641708G>A						PIP5K1C_ENST00000589578.1_Silent_p.D594D|PIP5K1C_ENST00000539785.1_Silent_p.D594D|PIP5K1C_ENST00000537021.1_Silent_p.D594D	p.D594D	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	15	1870	-		Hepatocellular(1079;0.137)	594					B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Silent	SNP	ENST00000335312.3	37	c.1782C>T	CCDS32872.1																																																																																				0.652	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		16	49	0	0	0	1	0	16	49				
ENO3	2027	broad.mit.edu	37	17	4859899	4859899	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:4859899G>A	ENST00000323997.6	+	10	1231	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	ENO3_ENST00000518175.1_Missense_Mutation_p.V367M|ENO3_ENST00000519584.1_Missense_Mutation_p.V324M	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	367					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TGGCTGGGGGGTGATGGTGAG	0.562																																						ENST00000323997.6																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						c.(1099-1101)Gtg>Atg		enolase 3 (beta, muscle)							107.0	110.0	109.0					17																	4859899		2203	4300	6503	SO:0001583	missense	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4859899G>A	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.1099G>A	17.37:g.4859899G>A	ENSP00000324105:p.Val367Met					ENO3_ENST00000518175.1_Missense_Mutation_p.V367M|ENO3_ENST00000519584.1_Missense_Mutation_p.V324M	p.V367M	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN			10	1231	+			367					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	ENST00000323997.6	37	c.1099G>A	CCDS11062.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803599	0.90623	.	.	ENSG00000108515	ENST00000323997;ENST00000519584;ENST00000518175	T;T;T	0.57595	0.39;0.39;0.39	5.32	5.32	0.75619	Enolase, C-terminal (1);	0.129667	0.50627	D	0.000102	D	0.82797	0.5115	H	0.97983	4.12	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79108	0.992;0.972;0.992	D	0.88781	0.3271	10	0.87932	D	0	-15.4208	16.5841	0.84723	0.0:0.0:1.0:0.0	.	367;324;367	P13929;P13929-3;D3DTL2	ENOB_HUMAN;.;.	M	367;324;367	ENSP00000324105:V367M;ENSP00000430636:V324M;ENSP00000431087:V367M	ENSP00000324105:V367M	V	+	1	0	ENO3	4800623	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.816000	0.86201	2.786000	0.95864	0.585000	0.79938	GTG		0.562	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2			47	125	0	0	0	1	0	47	125				
CPSF3	51692	broad.mit.edu	37	2	9576380	9576380	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:9576380A>G	ENST00000238112.3	+	7	856	c.650A>G	c.(649-651)gAg>gGg	p.E217G	CPSF3_ENST00000460593.1_Missense_Mutation_p.E180G	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	217					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		AAACGTGAAGAGCGAGAAGCA	0.433																																					Colon(194;1259 2048 3845 5218 19985)	ENST00000460593.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(538-540)gAg>gGg		cleavage and polyadenylation specific factor 3, 73kDa							185.0	166.0	173.0					2																	9576380		2203	4300	6503	SO:0001583	missense	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9576380A>G	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.650A>G	2.37:g.9576380A>G	ENSP00000238112:p.Glu217Gly					CPSF3_ENST00000238112.3_Missense_Mutation_p.E217G	p.E180G			Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	7	1677	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	217					O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	c.539A>G	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.948399	0.73787	.	.	ENSG00000119203	ENST00000238112;ENST00000427001;ENST00000460593	T;T	0.50277	0.75;0.75	5.84	5.84	0.93424	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	T	0.65322	0.2680	M	0.87682	2.9	0.80722	D	1	B;B	0.21309	0.054;0.031	B;B	0.40134	0.048;0.32	T	0.66035	-0.6023	10	0.51188	T	0.08	-13.5608	16.2116	0.82165	1.0:0.0:0.0:0.0	.	217;217	E7ER23;Q9UKF6	.;CPSF3_HUMAN	G	217;217;180	ENSP00000238112:E217G;ENSP00000418957:E180G	ENSP00000238112:E217G	E	+	2	0	CPSF3	9493831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.215000	0.95146	2.236000	0.73375	0.533000	0.62120	GAG		0.433	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		35	94	0	0	0	1	0	35	94				
SBNO2	22904	broad.mit.edu	37	19	1108811	1108811	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1108811G>A	ENST00000361757.3	-	31	3820	c.3583C>T	c.(3583-3585)Cgg>Tgg	p.R1195W	SBNO2_ENST00000438103.2_Missense_Mutation_p.R1138W|SBNO2_ENST00000587024.1_Missense_Mutation_p.R1185W	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1195					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTTCAGCCGCACGATCTGC	0.716																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(3583-3585)Cgg>Tgg		strawberry notch homolog 2 (Drosophila)							11.0	13.0	12.0					19																	1108811		2012	4155	6167	SO:0001583	missense	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1108811G>A	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.3583C>T	19.37:g.1108811G>A	ENSP00000354733:p.Arg1195Trp					SBNO2_ENST00000587024.1_Missense_Mutation_p.R1185W|SBNO2_ENST00000438103.2_Missense_Mutation_p.R1138W	p.R1195W	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	31	3820	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	1195					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.3583C>T	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	g	24.5	4.537906	0.85917	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	D;D	0.84298	-1.83;-1.83	4.34	3.18	0.36537	.	0.000000	0.85682	D	0.000000	D	0.92987	0.7768	M	0.89715	3.055	0.34555	D	0.711746	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96452	0.9335	10	0.87932	D	0	-22.8825	13.9689	0.64228	0.0:0.0:0.8374:0.1626	.	1195;1138	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	W	1195;1138;1213	ENSP00000354733:R1195W;ENSP00000400762:R1138W	ENSP00000250872:R1213W	R	-	1	2	SBNO2	1059811	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.556000	0.82233	1.983000	0.57843	0.444000	0.29173	CGG		0.716	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		9	20	0	0	0	1	0	9	20				
LRRC2	79442	broad.mit.edu	37	3	46574323	46574323	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:46574323A>G	ENST00000395905.3	-	5	959	c.567T>C	c.(565-567)tgT>tgC	p.C189C	LRRC2_ENST00000296144.3_Silent_p.C189C	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	189										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CTAGATTTTCACAATCTCCCA	0.368																																						ENST00000395905.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(565-567)tgT>tgC		leucine rich repeat containing 2							104.0	105.0	105.0					3																	46574323		2203	4300	6503	SO:0001819	synonymous_variant	79442							g.chr3:46574323A>G	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.567T>C	3.37:g.46574323A>G						LRRC2_ENST00000296144.3_Silent_p.C189C	p.C189C	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	5	959	-		Ovarian(412;0.0563)	189					B2RDQ7|Q96LT5	Silent	SNP	ENST00000395905.3	37	c.567T>C	CCDS2741.1																																																																																				0.368	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			19	79	0	0	0	1	0	19	79				
FAM86C1	55199	broad.mit.edu	37	11	71507071	71507071	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:71507071T>C	ENST00000359244.4	+	4	293	c.270T>C	c.(268-270)tgT>tgC	p.C90C	FAM86C1_ENST00000426628.2_Silent_p.C83C|FAM86C1_ENST00000346333.6_Silent_p.C56C	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	90										lung(1)	1						AGACGTGCTGTATTGCCCAGA	0.617																																						ENST00000359244.4																			0				lung(1)	1						c.(268-270)tgT>tgC		family with sequence similarity 86, member C1							40.0	42.0	42.0					11																	71507071		2199	4288	6487	SO:0001819	synonymous_variant	55199							g.chr11:71507071T>C	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.270T>C	11.37:g.71507071T>C						FAM86C1_ENST00000426628.2_Silent_p.C83C|FAM86C1_ENST00000528685.1_Silent_p.C56C|FAM86C1_ENST00000346333.6_Silent_p.C56C	p.C90C	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN			4	293	+			90					Q8N5D3	Silent	SNP	ENST00000359244.4	37	c.270T>C	CCDS41686.1																																																																																				0.617	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		30	99	0	0	0	1	0	30	99				
CYP4F8	11283	broad.mit.edu	37	19	15739180	15739180	+	RNA	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:15739180T>C	ENST00000441682.2	+	0	1245							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CATCCCCCAATCCCTACATTC	0.622																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8							72.0	82.0	79.0					19																	15739180		2203	4300	6503			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15739180T>C	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15739180T>C										P98187	CP4F8_HUMAN			0	1245	+									RNA	SNP	ENST00000441682.2	37			.	.	.	.	.	.	.	.	.	.	.	11.35	1.613730	0.28712	.	.	ENSG00000186526	ENST00000441682;ENST00000325723;ENST00000443973	.	.	.	3.45	2.39	0.29439	.	0.078575	0.50627	U	0.000117	T	0.40473	0.1118	.	.	.	0.21984	N	0.999435	B;B	0.06786	0.001;0.001	B;B	0.16722	0.006;0.016	T	0.45160	-0.9280	7	0.87932	D	0	.	6.981	0.24704	0.0:0.1183:0.0:0.8817	.	207;395	B4DU85;P98187	.;CP4F8_HUMAN	T	394;207;244	.	ENSP00000314398:I207T	I	+	2	0	CYP4F8	15600180	1.000000	0.71417	0.001000	0.08648	0.005000	0.04900	4.020000	0.57189	0.366000	0.24427	0.443000	0.29094	ATC		0.622	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		31	125	0	0	0	1	0	31	125				
PLA2G6	8398	broad.mit.edu	37	22	38512091	38512091	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:38512091G>C	ENST00000332509.3	-	13	2053	c.1870C>G	c.(1870-1872)Cag>Gag	p.Q624E	PLA2G6_ENST00000335539.3_Missense_Mutation_p.Q570E|PLA2G6_ENST00000402064.1_Missense_Mutation_p.Q570E	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	624	Patatin.				cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCTGAGGGCTGAGCTGGAGGC	0.592																																						ENST00000332509.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(1870-1872)Cag>Gag		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						66.0	64.0	64.0					22																	38512091		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38512091G>C	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1870C>G	22.37:g.38512091G>C	ENSP00000333142:p.Gln624Glu					PLA2G6_ENST00000335539.3_Missense_Mutation_p.Q570E|PLA2G6_ENST00000402064.1_Missense_Mutation_p.Q570E	p.Q624E	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			13	2053	-	Melanoma(58;0.045)		624					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.1870C>G	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.055045	0.00390	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.76186	-1.0;-1.0;-1.0	4.43	3.33	0.38152	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.809153	0.11820	N	0.526293	T	0.50786	0.1636	N	0.05608	-0.01	0.09310	N	0.999998	B;B	0.06786	0.0;0.001	B;B	0.13407	0.001;0.009	T	0.17379	-1.0371	10	0.05833	T	0.94	-2.6712	11.8516	0.52415	0.0:0.3246:0.6754:0.0	.	570;624	O60733-2;O60733	.;PA2G6_HUMAN	E	624;485;570;570	ENSP00000333142:Q624E;ENSP00000335149:Q570E;ENSP00000386100:Q570E	ENSP00000333142:Q624E	Q	-	1	0	PLA2G6	36842037	0.086000	0.21541	0.077000	0.20336	0.122000	0.20287	1.799000	0.38824	2.009000	0.58944	0.457000	0.33378	CAG		0.592	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		21	62	0	0	0	1	0	21	62				
LRIG1	26018	broad.mit.edu	37	3	66463372	66463372	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:66463372C>A	ENST00000273261.3	-	6	1238	c.714G>T	c.(712-714)gaG>gaT	p.E238D	LRIG1_ENST00000383703.3_Missense_Mutation_p.E238D	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	238					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCTTCAGCACCTCCAAGCTGT	0.542																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(712-714)gaG>gaT		leucine-rich repeats and immunoglobulin-like domains 1							194.0	142.0	159.0					3																	66463372		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66463372C>A	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.714G>T	3.37:g.66463372C>A	ENSP00000273261:p.Glu238Asp					LRIG1_ENST00000273261.3_Missense_Mutation_p.E238D	p.E238D			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	6	1317	-		Lung NSC(201;0.0101)	238					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.714G>T	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500135	0.44455	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.57273	0.41;0.41	5.69	4.74	0.60224	.	0.103006	0.64402	D	0.000004	T	0.48714	0.1515	M	0.70595	2.14	0.42714	D	0.993653	B;B	0.11235	0.003;0.004	B;B	0.21151	0.019;0.033	T	0.52426	-0.8577	10	0.46703	T	0.11	.	6.4746	0.22028	0.2291:0.6526:0.0:0.1183	.	238;238	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	D	238;238;165	ENSP00000273261:E238D;ENSP00000373208:E238D	ENSP00000273261:E238D	E	-	3	2	LRIG1	66546062	0.964000	0.33143	1.000000	0.80357	0.934000	0.57294	0.130000	0.15850	2.692000	0.91855	0.491000	0.48974	GAG		0.542	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		8	43	1	0	1.06961e-07	1	1.09985e-07	8	43				
C15orf39	56905	broad.mit.edu	37	15	75501025	75501025	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:75501025C>T	ENST00000360639.2	+	2	2956	c.2636C>T	c.(2635-2637)tCg>tTg	p.S879L	C15orf39_ENST00000394987.4_Missense_Mutation_p.S879L|RP11-69H7.3_ENST00000563568.1_RNA|C15orf39_ENST00000567617.1_Missense_Mutation_p.S879L			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	879						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						ACCACGCTGTCGGAGGAGCGG	0.657																																						ENST00000360639.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(2635-2637)tCg>tTg		chromosome 15 open reading frame 39							23.0	18.0	20.0					15																	75501025		2194	4292	6486	SO:0001583	missense	56905							g.chr15:75501025C>T	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2636C>T	15.37:g.75501025C>T	ENSP00000353854:p.Ser879Leu					C15orf39_ENST00000567617.1_Missense_Mutation_p.S879L|C15orf39_ENST00000394987.4_Missense_Mutation_p.S879L	p.S879L			Q6ZRI6	CO039_HUMAN			2	2956	+			879					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.2636C>T	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883394	0.91740	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.38722	1.12;1.12	5.44	5.44	0.79542	.	0.070349	0.64402	D	0.000014	T	0.62636	0.2444	M	0.62723	1.935	0.58432	D	0.999991	D;D	0.89917	1.0;0.999	D;D	0.68353	0.954;0.957	T	0.65071	-0.6257	10	0.87932	D	0	-18.1879	17.8467	0.88732	0.0:1.0:0.0:0.0	.	441;879	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	L	879;879;277	ENSP00000353854:S879L;ENSP00000378438:S879L	ENSP00000353854:S879L	S	+	2	0	C15orf39	73288078	1.000000	0.71417	0.995000	0.50966	0.670000	0.39368	7.382000	0.79729	2.556000	0.86216	0.561000	0.74099	TCG		0.657	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492		6	16	0	0	0	1	0	6	16				
SRCAP	10847	broad.mit.edu	37	16	30732158	30732158	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30732158C>A	ENST00000262518.4	+	20	3497	c.3112C>A	c.(3112-3114)Cct>Act	p.P1038T	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1038T|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1038T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1038	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCAGCCCACCCCTGGCCCAGT	0.667																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(3112-3114)Cct>Act		Snf2-related CREBBP activator protein							51.0	57.0	55.0					16																	30732158		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30732158C>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3112C>A	16.37:g.30732158C>A	ENSP00000262518:p.Pro1038Thr					SRCAP_ENST00000395059.2_Missense_Mutation_p.P1038T|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1038T	p.P1038T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		20	3497	+			1038			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.3112C>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	9.989	1.230279	0.22542	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90955	-2.76;-2.7;-2.76	5.25	4.27	0.50696	.	0.131270	0.35235	N	0.003347	T	0.79112	0.4391	N	0.08118	0	0.33434	D	0.581569	P;P;P	0.38827	0.649;0.649;0.518	B;B;B	0.40199	0.322;0.322;0.172	T	0.79240	-0.1885	10	0.09843	T	0.71	-7.6479	11.6191	0.51106	0.0:0.9138:0.0:0.0862	.	1038;1038;1038	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	T	1038	ENSP00000262518:P1038T;ENSP00000378499:P1038T;ENSP00000343042:P1038T	ENSP00000262518:P1038T	P	+	1	0	SRCAP	30639659	0.427000	0.25514	0.953000	0.39169	0.152000	0.21847	1.380000	0.34351	2.729000	0.93468	0.557000	0.71058	CCT		0.667	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		31	138	1	0	2.08457e-15	1	2.18432e-15	31	138				
MUC13	56667	broad.mit.edu	37	3	124641065	124641065	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:124641065C>T	ENST00000311075.3	-	4	758	c.720G>A	c.(718-720)ttG>ttA	p.L240L		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	241	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TTTCACTATGCAAGTCTTGAT	0.393																																						ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(718-720)ttG>ttA		mucin 13, cell surface associated							133.0	125.0	127.0					3																	124641065		2203	4300	6503	SO:0001819	synonymous_variant	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124641065C>T	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.720G>A	3.37:g.124641065C>T							p.L240L	NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN			4	758	-			240			SEA.		Q6UWD9|Q9NXT5	Silent	SNP	ENST00000311075.3	37	c.720G>A																																																																																					0.393	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		14	49	0	0	0	1	0	14	49				
ANKRD11	29123	broad.mit.edu	37	16	89348957	89348957	+	Silent	SNP	G	G	A	rs141054850		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:89348957G>A	ENST00000301030.4	-	9	4453	c.3993C>T	c.(3991-3993)gaC>gaT	p.D1331D	ANKRD11_ENST00000378330.2_Silent_p.D1331D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1331	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCGGCTTGTCGTCTCCAGGTG	0.592																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(3991-3993)gaC>gaT		ankyrin repeat domain 11		G		1,4395	2.1+/-5.4	0,1,2197	40.0	40.0	40.0		3993	-4.4	0.1	16	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous	ANKRD11	NM_013275.4		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077		1331/2664	89348957	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89348957G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3993C>T	16.37:g.89348957G>A						ANKRD11_ENST00000378330.2_Silent_p.D1331D	p.D1331D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	4453	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1331			Lys-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.3993C>T	CCDS32513.1																																																																																				0.592	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		17	52	0	0	0	1	0	17	52				
NBAS	51594	broad.mit.edu	37	2	15696932	15696932	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:15696932A>G	ENST00000281513.5	-	3	209	c.184T>C	c.(184-186)Ttt>Ctt	p.F62L	NBAS_ENST00000441750.1_Missense_Mutation_p.F62L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	62					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGGCGTAAAAATAATAAACGA	0.274																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(184-186)Ttt>Ctt		neuroblastoma amplified sequence							76.0	79.0	78.0					2																	15696932		2203	4295	6498	SO:0001583	missense	51594							g.chr2:15696932A>G	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.184T>C	2.37:g.15696932A>G	ENSP00000281513:p.Phe62Leu					NBAS_ENST00000441750.1_Missense_Mutation_p.F62L	p.F62L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			3	209	-			62					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.184T>C	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	A	10.26	1.300474	0.23650	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.12879	2.64;2.92	5.55	5.55	0.83447	.	0.131880	0.52532	D	0.000067	T	0.07818	0.0196	N	0.04508	-0.205	0.26112	N	0.980679	B	0.09022	0.002	B	0.04013	0.001	T	0.24119	-1.0169	10	0.87932	D	0	.	13.2183	0.59873	1.0:0.0:0.0:0.0	.	62	A2RRP1	NBAS_HUMAN	L	62	ENSP00000413201:F62L;ENSP00000281513:F62L	ENSP00000281513:F62L	F	-	1	0	NBAS	15614383	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.662000	0.46766	2.111000	0.64477	0.533000	0.62120	TTT		0.274	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		14	55	0	0	0	1	0	14	55				
QTRTD1	79691	broad.mit.edu	37	3	113804627	113804627	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:113804627C>T	ENST00000493014.1	+	6	874	c.806C>T	c.(805-807)gCc>gTc	p.A269V	QTRTD1_ENST00000479882.1_Missense_Mutation_p.A252V|QTRTD1_ENST00000281273.4_Missense_Mutation_p.A375V|QTRTD1_ENST00000485050.1_Missense_Mutation_p.A387V	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GAGCTGCTGGCCGGAGTCCTG	0.478																																						ENST00000281273.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						c.(1123-1125)gCc>gTc		queuine tRNA-ribosyltransferase domain containing 1							197.0	166.0	176.0					3																	113804627		2203	4300	6503	SO:0001583	missense	79691				queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr3:113804627C>T	AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.806C>T	3.37:g.113804627C>T	ENSP00000419169:p.Ala269Val					QTRTD1_ENST00000493014.1_Missense_Mutation_p.A269V|QTRTD1_ENST00000485050.1_Missense_Mutation_p.A387V|QTRTD1_ENST00000479882.1_Missense_Mutation_p.A252V	p.A375V	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN			10	1381	+			375						Missense_Mutation	SNP	ENST00000493014.1	37	c.1124C>T	CCDS58845.1	.	.	.	.	.	.	.	.	.	.	C	35	5.512311	0.96402	.	.	ENSG00000151576	ENST00000485050;ENST00000281273;ENST00000479882;ENST00000493014	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.85327	0.5671	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.968	D	0.86926	0.2070	9	0.87932	D	0	-13.6632	18.8014	0.92018	0.0:1.0:0.0:0.0	.	269;375	B7Z472;Q9H974	.;QTRD1_HUMAN	V	387;375;252;269	.	ENSP00000281273:A375V	A	+	2	0	QTRTD1	115287317	1.000000	0.71417	0.972000	0.41901	0.989000	0.77384	6.900000	0.75687	2.882000	0.98803	0.655000	0.94253	GCC		0.478	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000354711.1	NM_024638		54	148	0	0	0	1	0	54	148				
SH3BP2	6452	broad.mit.edu	37	4	2831230	2831230	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:2831230G>A	ENST00000356331.5	+	8	858	c.597G>A	c.(595-597)atG>atA	p.M199I	SH3BP2_ENST00000452765.2_Missense_Mutation_p.M199I|SH3BP2_ENST00000435136.2_Missense_Mutation_p.M199I|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000442312.2_Missense_Mutation_p.M227I|SH3BP2_ENST00000503393.2_Missense_Mutation_p.M256I|SH3BP2_ENST00000511747.1_Missense_Mutation_p.M199I	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	199					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ATGCCCTGATGCACCCACCGG	0.647									Cherubism																													ENST00000442312.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20						c.(679-681)atG>atA		SH3-domain binding protein 2							57.0	65.0	62.0					4																	2831230		2203	4300	6503	SO:0001583	missense	6452	Cherubism	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	g.chr4:2831230G>A	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.597G>A	4.37:g.2831230G>A	ENSP00000348685:p.Met199Ile					SH3BP2_ENST00000511747.1_Missense_Mutation_p.M199I|SH3BP2_ENST00000435136.2_Missense_Mutation_p.M199I|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000503393.2_Missense_Mutation_p.M256I|SH3BP2_ENST00000356331.5_Missense_Mutation_p.M199I|SH3BP2_ENST00000452765.2_Missense_Mutation_p.M199I	p.M227I	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	8	860	+			199					A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	ENST00000356331.5	37	c.681G>A	CCDS33944.1	.	.	.	.	.	.	.	.	.	.	g	0.007	-1.970364	0.00457	.	.	ENSG00000087266	ENST00000452765;ENST00000442312;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	D;D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58;-3.58	5.2	-0.297	0.12820	.	0.905014	0.09597	N	0.780644	T	0.82176	0.4980	N	0.02539	-0.55	0.22531	N	0.999011	B;B;B;B;B	0.11235	0.0;0.001;0.004;0.0;0.0	B;B;B;B;B	0.08055	0.0;0.0;0.003;0.0;0.0	T	0.71119	-0.4685	10	0.25751	T	0.34	-10.7996	6.3516	0.21379	0.0:0.4908:0.2592:0.2501	.	227;174;174;256;199	B4DT04;Q6ZVU3;Q6ZTK4;D6R919;P78314	.;.;.;.;3BP2_HUMAN	I	199;227;199;199;256;199	ENSP00000409746:M199I;ENSP00000388152:M227I;ENSP00000403231:M199I;ENSP00000424846:M199I;ENSP00000422168:M256I;ENSP00000348685:M199I	ENSP00000348685:M199I	M	+	3	0	SH3BP2	2801028	0.001000	0.12720	0.136000	0.22124	0.151000	0.21798	-0.220000	0.09215	-0.025000	0.13918	-0.319000	0.08680	ATG		0.647	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023		40	115	0	0	0	1	0	40	115				
LOC148709	148709	broad.mit.edu	37	1	202842810	202842810	+	lincRNA	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:202842810G>A	ENST00000456105.2	+	0	762					NR_002929.2																						CCCCAGCAAGGTACACAGCCA	0.577																																						ENST00000456105.2																			0																																																			148709							g.chr1:202842810G>A																													1.37:g.202842810G>A								NR_002929.2						0	762	+									RNA	SNP	ENST00000456105.2	37																																																																																						0.577	RP11-480I12.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000099158.2			21	76	0	0	0	1	0	21	76				
MTRR	4552	broad.mit.edu	37	5	7869267	7869267	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:7869267C>T	ENST00000264668.2	+	1	51	c.21C>T	c.(19-21)cgC>cgT	p.R7R	MTRR_ENST00000440940.2_5'Flank|FASTKD3_ENST00000264669.5_5'Flank|MTRR_ENST00000341013.6_5'UTR|MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'Flank	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	7					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CGTCAGTGCGCGCTGGCGCAA	0.672																																						ENST00000264668.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31						c.(19-21)cgC>cgT		5-methyltetrahydrofolate-homocysteine methyltransferase reductase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						101.0	102.0	102.0					5																	7869267		2203	4300	6503	SO:0001819	synonymous_variant	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7869267C>T	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.21C>T	5.37:g.7869267C>T						MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'UTR	p.R7R	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN			1	51	+			7					O60471|Q32MA9|Q7Z4M8	Silent	SNP	ENST00000264668.2	37	c.21C>T	CCDS3874.1	.	.	.	.	.	.	.	.	.	.	C	6.177	0.400877	0.11696	.	.	ENSG00000124275	ENST00000514220	T	0.26957	1.7	2.83	-0.144	0.13440	.	7.950340	0.01862	U	0.036645	T	0.20414	0.0491	.	.	.	0.20307	N	0.999919	.	.	.	.	.	.	T	0.16453	-1.0402	7	0.44086	T	0.13	-0.405	3.225	0.06729	0.0:0.4982:0.2254:0.2764	.	.	.	.	C	3	ENSP00000423863:R3C	ENSP00000423139:R3C	R	+	1	0	MTRR	7922267	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.128000	0.10531	-0.044000	0.13491	0.484000	0.47621	CGC		0.672	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			35	172	0	0	0	1	0	35	172				
COL16A1	1307	broad.mit.edu	37	1	32163578	32163578	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:32163578G>A	ENST00000373672.3	-	6	1102	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	COL16A1_ENST00000373668.3_Missense_Mutation_p.P196S|COL16A1_ENST00000271069.6_Missense_Mutation_p.P196S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	196	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGTCGTCGGGGCCCCAGAGGC	0.622																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(586-588)Ccc>Tcc		collagen, type XVI, alpha 1							30.0	36.0	34.0					1																	32163578		2046	4203	6249	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32163578G>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.586C>T	1.37:g.32163578G>A	ENSP00000362776:p.Pro196Ser					COL16A1_ENST00000373668.3_Missense_Mutation_p.P196S|COL16A1_ENST00000271069.6_Missense_Mutation_p.P196S	p.P196S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	6	1102	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	196			TSP N-terminal.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.586C>T	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509642	0.64522	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	T;T;T	0.71222	-0.55;-0.55;-0.55	5.14	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.133861	0.50627	D	0.000109	D	0.82591	0.5070	M	0.67700	2.07	0.44295	D	0.997167	D;P;P	0.89917	1.0;0.943;0.911	D;P;P	0.68621	0.959;0.5;0.587	D	0.84294	0.0501	10	0.72032	D	0.01	.	17.7571	0.88452	0.0:0.0:1.0:0.0	.	196;196;196	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	S	196	ENSP00000362776:P196S;ENSP00000271069:P196S;ENSP00000362772:P196S	ENSP00000271069:P196S	P	-	1	0	COL16A1	31936165	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	3.796000	0.55507	2.571000	0.86741	0.561000	0.74099	CCC		0.622	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		16	65	0	0	0	1	0	16	65				
ATP6V1B1	525	broad.mit.edu	37	2	71163099	71163099	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:71163099A>G	ENST00000234396.4	+	1	88	c.15A>G	c.(13-15)atA>atG	p.I5M	ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.I5M	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	5					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCATGGAGATAGACAGCAGGC	0.637																																						ENST00000234396.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						c.(13-15)atA>atG		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1							37.0	41.0	40.0					2																	71163099		2203	4300	6503	SO:0001583	missense	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71163099A>G	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.15A>G	2.37:g.71163099A>G	ENSP00000234396:p.Ile5Met					ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.I5M	p.I5M	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN			1	88	+			5					Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	c.15A>G	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	A	9.652	1.141879	0.21205	.	.	ENSG00000116039	ENST00000234396;ENST00000412314	D;D	0.83250	-1.7;-1.7	4.9	2.54	0.30619	.	0.701379	0.11747	N	0.533392	T	0.65698	0.2716	N	0.08118	0	0.22827	N	0.998689	B;B	0.17268	0.021;0.021	B;B	0.17433	0.009;0.018	T	0.57711	-0.7764	10	0.87932	D	0	-0.0805	5.7686	0.18241	0.6992:0.0:0.3008:0.0	.	5;5	C9JL73;P15313	.;VATB1_HUMAN	M	5	ENSP00000234396:I5M;ENSP00000388353:I5M	ENSP00000234396:I5M	I	+	3	3	ATP6V1B1	71016607	1.000000	0.71417	0.921000	0.36526	0.236000	0.25371	0.490000	0.22403	0.717000	0.32145	0.482000	0.46254	ATA		0.637	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		21	50	0	0	0	1	0	21	50				
NTRK2	4915	broad.mit.edu	37	9	87636213	87636213	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:87636213C>T	ENST00000323115.4	+	17	2683	c.2330C>T	c.(2329-2331)aCg>aTg	p.T777M	NTRK2_ENST00000376214.1_Missense_Mutation_p.T793M|NTRK2_ENST00000376213.1_Missense_Mutation_p.T777M|NTRK2_ENST00000277120.3_Missense_Mutation_p.T793M			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	777	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CGACCCCGCACGTGCCCCCAG	0.552										TSP Lung(25;0.17)																												ENST00000376214.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(2377-2379)aCg>aTg		neurotrophic tyrosine kinase, receptor, type 2							60.0	60.0	60.0					9																	87636213		2203	4300	6503	SO:0001583	missense	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87636213C>T	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.2330C>T	9.37:g.87636213C>T	ENSP00000314586:p.Thr777Met	TSP Lung(25;0.17)				NTRK2_ENST00000277120.3_Missense_Mutation_p.T793M|NTRK2_ENST00000323115.4_Missense_Mutation_p.T777M|NTRK2_ENST00000376213.1_Missense_Mutation_p.T777M	p.T793M	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN			21	3316	+			777			Protein kinase.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	c.2378C>T	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930159	0.92389	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000277120;ENST00000323115	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.75	5.75	0.90469	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87985	0.6316	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.86918	0.2065	10	0.44086	T	0.13	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	777;793	Q16620;Q16620-4	NTRK2_HUMAN;.	M	793;777;793;777	ENSP00000365387:T793M;ENSP00000365386:T777M;ENSP00000277120:T793M;ENSP00000314586:T777M	ENSP00000277120:T793M	T	+	2	0	NTRK2	86826033	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	5.999000	0.70665	2.725000	0.93324	0.655000	0.94253	ACG		0.552	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			18	50	0	0	0	1	0	18	50				
KNDC1	85442	broad.mit.edu	37	10	135038213	135038213	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:135038213A>G	ENST00000304613.3	+	30	5090	c.5069A>G	c.(5068-5070)tAc>tGc	p.Y1690C	KNDC1_ENST00000368572.2_Missense_Mutation_p.Y1692C			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1690	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGAACCCTTACACCTTCAGC	0.602																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(5068-5070)tAc>tGc		kinase non-catalytic C-lobe domain (KIND) containing 1							89.0	72.0	78.0					10																	135038213		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135038213A>G	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.5069A>G	10.37:g.135038213A>G	ENSP00000304437:p.Tyr1690Cys					KNDC1_ENST00000368572.2_Missense_Mutation_p.Y1692C	p.Y1690C			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	30	5090	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1690			Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.5069A>G	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134619	0.56828	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.40225	1.04;1.04	4.42	3.25	0.37280	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.210802	0.41396	D	0.000896	T	0.54319	0.1851	L	0.54323	1.7	0.49582	D	0.999809	D	0.76494	0.999	D	0.71656	0.974	T	0.53676	-0.8405	10	0.87932	D	0	-32.7192	8.6463	0.34007	0.8285:0.0:0.0:0.1715	.	1690	Q76NI1	VKIND_HUMAN	C	1690;1692	ENSP00000304437:Y1690C;ENSP00000357561:Y1692C	ENSP00000304437:Y1690C	Y	+	2	0	KNDC1	134888203	1.000000	0.71417	0.998000	0.56505	0.677000	0.39632	3.748000	0.55142	0.637000	0.30526	0.533000	0.62120	TAC		0.602	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		9	52	0	0	0	1	0	9	52				
CXCL17	284340	broad.mit.edu	37	19	42933037	42933037	+	Nonstop_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:42933037T>C	ENST00000601181.1	-	4	574	c.359A>G	c.(358-360)tAg>tGg	p.*120W	LIPE_ENST00000244289.4_5'Flank|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_198477.1	NP_940879.1	Q6UXB2	VCC1_HUMAN	chemokine (C-X-C motif) ligand 17	0					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)	extracellular region (GO:0005576)				large_intestine(2)|skin(1)	3		Prostate(69;0.00899)				TCAGAGCTCCTACAAAGGCAG	0.493																																						ENST00000601181.1																			0				large_intestine(2)|skin(1)	3						c.(358-360)tAg>tGg		chemokine (C-X-C motif) ligand 17							230.0	231.0	231.0					19																	42933037		2203	4300	6503	SO:0001578	stop_lost	284340				angiogenesis|cell differentiation|chemotaxis	extracellular region		g.chr19:42933037T>C		CCDS12608.1	19q13.2	2007-10-15				ENSG00000189377			19232	protein-coding gene	gene with protein product		611387				17201934	Standard	NM_198477		Approved	Dcip1, UNQ473, DMC, VCC1	uc002otu.3	Q6UXB2		ENST00000601181.1:c.359A>G	19.37:g.42933037T>C	ENSP00000472467:p.*120Serext*3					LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA	p.*120W	NM_198477.1	NP_940879.1	Q6UXB2	VCC1_HUMAN			4	574	-		Prostate(69;0.00899)	0					A8KAC0	Nonstop_Mutation	SNP	ENST00000601181.1	37	c.359A>G	CCDS12608.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.669308	0.47677	.	.	ENSG00000189377	ENST00000341918	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2178	0.48835	0.0:0.0:0.0:1.0	.	.	.	.	W	120	.	.	X	-	2	0	CXCL17	47624877	0.560000	0.26570	0.829000	0.32907	0.880000	0.50808	3.232000	0.51302	2.210000	0.71456	0.533000	0.62120	TAG		0.493	CXCL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463872.1			86	304	0	0	0	1	0	86	304				
TRIM67	440730	broad.mit.edu	37	1	231298757	231298757	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:231298757T>C	ENST00000366653.5	+	1	42	c.42T>C	c.(40-42)ttT>ttC	p.F14F	TRIM67_ENST00000366652.2_Silent_p.F14F|TRIM67_ENST00000444294.3_Silent_p.F14F|TRIM67_ENST00000449018.3_Silent_p.F14F			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	14					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GCTCTCTGTTTCGGGAGCCTA	0.667																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(40-42)ttT>ttC		tripartite motif containing 67							37.0	40.0	39.0					1																	231298757		2062	4210	6272	SO:0001819	synonymous_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231298757T>C	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.42T>C	1.37:g.231298757T>C						TRIM67_ENST00000366652.2_Silent_p.F14F|TRIM67_ENST00000366653.5_Silent_p.F14F|TRIM67_ENST00000449018.3_Silent_p.F14F	p.F14F	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			1	900	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	14					Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	c.42T>C	CCDS44333.1																																																																																				0.667	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		8	25	0	0	0	1	0	8	25				
BHLHB9	80823	broad.mit.edu	37	X	102005445	102005445	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:102005445G>A	ENST00000372735.1	+	4	2107	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	BHLHB9_ENST00000447531.1_Missense_Mutation_p.A508T|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A508T|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A508T|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A508T			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	508					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TAGTGGTGTGGCCATATTTAT	0.378																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1522-1524)Gcc>Acc		basic helix-loop-helix domain containing, class B, 9							110.0	103.0	105.0					X																	102005445		2203	4299	6502	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102005445G>A	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.1522G>A	X.37:g.102005445G>A	ENSP00000361820:p.Ala508Thr					BHLHB9_ENST00000457056.1_Missense_Mutation_p.A508T|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A508T|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A508T|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A508T	p.A508T			Q6PI77	BHLH9_HUMAN			4	2107	+			508					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.1522G>A	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316591	0.60524	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	4.5	4.5	0.54988	Armadillo-like helical (1);	0.000000	0.47093	D	0.000255	T	0.39091	0.1065	L	0.28192	0.835	0.29770	N	0.834835	D	0.89917	1.0	D	0.91635	0.999	T	0.15093	-1.0449	9	.	.	.	-15.7572	11.4177	0.49962	0.0:0.0:1.0:0.0	.	508	Q6PI77	BHLH9_HUMAN	T	508	ENSP00000403226:A508T;ENSP00000354675:A508T;ENSP00000405893:A508T;ENSP00000391722:A508T;ENSP00000361820:A508T	.	A	+	1	0	BHLHB9	101892101	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.525000	0.53502	2.467000	0.83353	0.544000	0.68410	GCC		0.378	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		4	103	0	0	0	1	0	4	103				
TBC1D7	51256	broad.mit.edu	37	6	13307955	13307955	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:13307955A>G	ENST00000379300.3	-	6	785	c.542T>C	c.(541-543)tTg>tCg	p.L181S	TBC1D7_ENST00000343141.4_Missense_Mutation_p.L135S|TBC1D7_ENST00000356436.4_Missense_Mutation_p.L181S|TBC1D7_ENST00000379307.2_Missense_Mutation_p.L154S|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000607658.1_Missense_Mutation_p.L154S	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	181	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			TTCCAGATTCAAGTATTGTTC	0.408																																						ENST00000607658.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22						c.(460-462)tTg>tCg		TBC1 domain family, member 7							82.0	78.0	79.0					6																	13307955		2203	4300	6503	SO:0001583	missense	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13307955A>G	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.542T>C	6.37:g.13307955A>G	ENSP00000368602:p.Leu181Ser					TBC1D7_ENST00000356436.4_Missense_Mutation_p.L181S|TBC1D7_ENST00000379307.2_Missense_Mutation_p.L154S|TBC1D7_ENST00000379300.3_Missense_Mutation_p.L181S|TBC1D7_ENST00000343141.4_Missense_Mutation_p.L135S|TBC1D7_ENST00000607532.1_5'UTR	p.L154S			Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		5	611	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	181			Rab-GAP TBC.		E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	c.461T>C	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.891487	0.91889	.	.	ENSG00000145979	ENST00000334971;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456	T;T;T;T;T;T;T;T;T	0.56611	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;0.45	6.17	6.17	0.99709	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.72317	0.3445	M	0.86343	2.81	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;0.999;0.999;1.0	T	0.78125	-0.2326	10	0.87932	D	0	-16.8705	16.0034	0.80327	1.0:0.0:0.0:0.0	.	135;154;154;181	Q2TU37;Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;.;TBCD7_HUMAN	S	122;181;181;154;135;154;154;181;154;154	ENSP00000348813:L181S;ENSP00000368602:L181S;ENSP00000368609:L154S;ENSP00000343100:L135S;ENSP00000414292:L154S;ENSP00000404680:L154S;ENSP00000394425:L181S;ENSP00000417005:L154S;ENSP00000412102:L154S	ENSP00000334212:L122S	L	-	2	0	TBC1D7	13415934	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.763000	0.91715	2.371000	0.80710	0.533000	0.62120	TTG		0.408	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		12	61	0	0	0	1	0	12	61				
LAT2	7462	broad.mit.edu	37	7	73638350	73638350	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:73638350G>A	ENST00000460943.1	+	12	1340	c.451G>A	c.(451-453)Gcc>Acc	p.A151T	LAT2_ENST00000344995.5_Missense_Mutation_p.A151T|LAT2_ENST00000398475.1_Missense_Mutation_p.A151T|LAT2_ENST00000275635.7_Missense_Mutation_p.A151T	NM_032464.2	NP_115853.2	Q9UHI5	LAT2_HUMAN	linker for activation of T cells family, member 2	0					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6					L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CTCTGCAGGTGCCCAGCAGGA	0.637																																						ENST00000460943.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(451-453)Gcc>Acc		linker for activation of T cells family, member 2							32.0	38.0	36.0					7																	73638350		1961	4159	6120	SO:0001583	missense	7462				B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding	g.chr7:73638350G>A	AF257135	CCDS5566.2	7q11.23	2011-11-01	2005-04-26	2005-04-26	ENSG00000086730	ENSG00000086730			12749	protein-coding gene	gene with protein product	"""linker for activation of B cells"", ""non-T cell activation linker"", ""linker for activation of T cells, transmembrane adaptor 2"""	605719	"""Williams-Beuren syndrome chromosome region 5"""	WBSCR15, WBSCR5		8812460, 12514734	Standard	NM_032464		Approved	WSCR5, HSPC046, LAB, NTAL	uc003uai.3	Q9GZY6	OTTHUMG00000130151	ENST00000460943.1:c.451G>A	7.37:g.73638350G>A	ENSP00000420494:p.Ala151Thr					LAT2_ENST00000344995.5_Missense_Mutation_p.A151T|LAT2_ENST00000275635.7_Missense_Mutation_p.A151T|LAT2_ENST00000398475.1_Missense_Mutation_p.A151T	p.A151T	NM_032464.2	NP_115853.2	Q9GZY6	NTAL_HUMAN			12	1340	+			151					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000460943.1	37	c.451G>A	CCDS5566.2	.	.	.	.	.	.	.	.	.	.	G	9.592	1.126355	0.20959	.	.	ENSG00000086730	ENST00000344995;ENST00000460943;ENST00000398475;ENST00000275635	T;T;T;T	0.04317	3.65;3.65;3.65;3.65	3.42	2.5	0.30297	.	6.206750	0.00520	N	0.000193	T	0.08044	0.0201	N	0.14661	0.345	0.09310	N	1	D	0.58268	0.982	P	0.55055	0.767	T	0.41963	-0.9479	10	0.28530	T	0.3	2.0877	9.0595	0.36425	0.0:0.2279:0.7721:0.0	.	151	Q9GZY6	NTAL_HUMAN	T	151	ENSP00000344881:A151T;ENSP00000420494:A151T;ENSP00000381492:A151T;ENSP00000275635:A151T	ENSP00000275635:A151T	A	+	1	0	LAT2	73276286	0.001000	0.12720	0.011000	0.14972	0.039000	0.13416	0.452000	0.21795	0.700000	0.31782	0.491000	0.48974	GCC		0.637	LAT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277062.1			9	21	0	0	0	1	0	9	21				
DENND5B	160518	broad.mit.edu	37	12	31600487	31600487	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:31600487T>A	ENST00000389082.5	-	6	2110	c.1846A>T	c.(1846-1848)Act>Tct	p.T616S	DENND5B_ENST00000536562.1_Missense_Mutation_p.T651S|snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000306833.6_Missense_Mutation_p.T651S|DENND5B_ENST00000354285.4_Missense_Mutation_p.T638S	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	616					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCTTTTAAAGTGCTGCATTTC	0.378																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1846-1848)Act>Tct		DENN/MADD domain containing 5B							53.0	50.0	51.0					12																	31600487		1833	4090	5923	SO:0001583	missense	160518					integral to membrane		g.chr12:31600487T>A	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1846A>T	12.37:g.31600487T>A	ENSP00000373734:p.Thr616Ser					DENND5B_ENST00000354285.4_Missense_Mutation_p.T638S|DENND5B_ENST00000306833.6_Missense_Mutation_p.T651S|DENND5B_ENST00000536562.1_Missense_Mutation_p.T651S	p.T616S	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			6	2110	-			616					B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.1846A>T	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	T	7.656	0.683895	0.14907	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.05	5.05	0.67936	.	0.230282	0.35772	N	0.002993	T	0.20659	0.0497	N	0.10874	0.06	0.30436	N	0.776625	B;B;B	0.11235	0.002;0.001;0.004	B;B;B	0.15052	0.012;0.003;0.007	T	0.16808	-1.0390	10	0.08837	T	0.75	-23.3336	9.4615	0.38787	0.0:0.0791:0.0:0.9209	.	638;616;651	Q6ZUT9-4;Q6ZUT9;G3V1S3	.;DEN5B_HUMAN;.	S	616;651;651;638	ENSP00000373734:T616S;ENSP00000306482:T651S;ENSP00000444889:T651S;ENSP00000346238:T638S	ENSP00000306482:T651S	T	-	1	0	DENND5B	31491754	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.833000	0.55790	2.123000	0.65237	0.460000	0.39030	ACT		0.378	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		7	37	0	0	0	1	0	7	37				
UTP20	27340	broad.mit.edu	37	12	101750762	101750762	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:101750762G>T	ENST00000261637.4	+	43	5767	c.5593G>T	c.(5593-5595)Gca>Tca	p.A1865S	snoU13_ENST00000458958.1_RNA	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1865					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAGAGACATTGCACGCAGCAC	0.388																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(5593-5595)Gca>Tca		UTP20, small subunit (SSU) processome component, homolog (yeast)							81.0	74.0	76.0					12																	101750762		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101750762G>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5593G>T	12.37:g.101750762G>T	ENSP00000261637:p.Ala1865Ser						p.A1865S	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			43	5767	+			1865					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.5593G>T	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	35	5.548506	0.96488	.	.	ENSG00000120800	ENST00000261637	T	0.74842	-0.88	6.06	6.06	0.98353	Armadillo-type fold (1);	0.048671	0.85682	D	0.000000	D	0.84302	0.5442	M	0.64404	1.975	0.58432	D	0.999999	D	0.69078	0.997	D	0.64321	0.924	T	0.81185	-0.1048	10	0.37606	T	0.19	-18.3776	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1865	O75691	UTP20_HUMAN	S	1865	ENSP00000261637:A1865S	ENSP00000261637:A1865S	A	+	1	0	UTP20	100274893	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.076000	0.94009	2.882000	0.98803	0.655000	0.94253	GCA		0.388	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		15	78	1	0	2.32078e-09	1	2.39896e-09	15	78				
MBP	4155	broad.mit.edu	37	18	74728931	74728931	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:74728931C>T	ENST00000397869.3	-	1	80	c.34G>A	c.(34-36)Gga>Aga	p.G12R	MBP_ENST00000397865.5_Missense_Mutation_p.G12R|MBP_ENST00000528160.1_Missense_Mutation_p.G12R|MBP_ENST00000579129.1_Missense_Mutation_p.G145R|MBP_ENST00000397875.3_Missense_Mutation_p.G12R|MBP_ENST00000487778.1_5'Flank|MBP_ENST00000397863.1_Missense_Mutation_p.G145R|MBP_ENST00000355994.2_Missense_Mutation_p.G145R|MBP_ENST00000397860.3_Missense_Mutation_p.G145R|MBP_ENST00000578193.1_Missense_Mutation_p.G12R|MBP_ENST00000527041.1_Missense_Mutation_p.G12R|MBP_ENST00000526111.1_Intron|MBP_ENST00000359645.3_Missense_Mutation_p.G12R|MBP_ENST00000397866.4_Missense_Mutation_p.G12R|MBP_ENST00000580402.1_Missense_Mutation_p.G145R|MBP_ENST00000382582.3_Missense_Mutation_p.G12R|MBP_ENST00000354542.4_Missense_Mutation_p.G12R			P13727	PRG2_HUMAN	myelin basic protein	0					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	TACTTGGATCCGTGCCTCTGG	0.597																																					NSCLC(17;72 1131 19392)	ENST00000397860.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(433-435)Gga>Aga		myelin basic protein							133.0	105.0	115.0					18																	74728931		2203	4300	6503	SO:0001583	missense	4155				central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath	g.chr18:74728931C>T		CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.34G>A	18.37:g.74728931C>T	ENSP00000380967:p.Gly12Arg					MBP_ENST00000355994.2_Missense_Mutation_p.G145R|MBP_ENST00000578193.1_Missense_Mutation_p.G12R|MBP_ENST00000528160.1_Missense_Mutation_p.G12R|MBP_ENST00000580402.1_Missense_Mutation_p.G145R|MBP_ENST00000354542.4_Missense_Mutation_p.G12R|MBP_ENST00000359645.3_Missense_Mutation_p.G12R|MBP_ENST00000526111.1_Intron|MBP_ENST00000397869.3_Missense_Mutation_p.G12R|MBP_ENST00000397866.4_Missense_Mutation_p.G12R|MBP_ENST00000397865.5_Missense_Mutation_p.G12R|MBP_ENST00000397863.1_Missense_Mutation_p.G145R|MBP_ENST00000382582.3_Missense_Mutation_p.G12R|MBP_ENST00000579129.1_Missense_Mutation_p.G145R|MBP_ENST00000397875.3_Missense_Mutation_p.G12R|MBP_ENST00000527041.1_Missense_Mutation_p.G12R	p.G145R	NM_001025100.1	NP_001020271.1	P02686	MBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	4	647	-		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	145					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000397869.3	37	c.433G>A		.	.	.	.	.	.	.	.	.	.	C	21.6	4.179302	0.78564	.	.	ENSG00000197971	ENST00000382582;ENST00000355994;ENST00000397875;ENST00000397866;ENST00000397865;ENST00000527041;ENST00000359645;ENST00000528160;ENST00000397869;ENST00000354542;ENST00000397868;ENST00000498683;ENST00000397863;ENST00000397860	.	.	.	4.73	4.73	0.59995	.	0.077995	0.51477	D	0.000094	T	0.72011	0.3408	L	0.50333	1.59	0.36642	D	0.876923	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.997;1.0;0.999;1.0;1.0	T	0.79284	-0.1867	9	0.87932	D	0	-4.9736	17.7527	0.88439	0.0:1.0:0.0:0.0	.	12;145;145;12;12;12	B7Z3Y6;P02686;P02686-2;P02686-6;P02686-4;P02686-3	.;MBP_HUMAN;.;.;.;.	R	12;145;12;12;12;12;12;12;12;12;12;12;145;145	.	ENSP00000346545:G12R	G	-	1	0	MBP	72857919	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.830000	0.62745	2.179000	0.69175	0.558000	0.71614	GGA		0.597	MBP-024	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000267964.1	NM_001025081		37	67	0	0	0	1	0	37	67				
EGFR	1956	broad.mit.edu	37	7	55238214	55238214	+	Intron	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:55238214A>T	ENST00000275493.2	+	16	2057				EGFR_ENST00000344576.2_Missense_Mutation_p.I699F|EGFR_ENST00000454757.2_Intron|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor						activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	ATCTGTGATCATCACGGCCTC	0.597		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000344576.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2095-2097)Atc>Ttc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						125.0	107.0	113.0					7																	55238214		2203	4300	6503	SO:0001627	intron_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55238214A>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1881-654A>T	7.37:g.55238214A>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000275493.2_Intron|EGFR_ENST00000454757.2_Intron|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Intron	p.I699F	NM_201284.1	NP_958441.1	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		16	2340	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		0			Important for dimerization, phosphorylation and activation.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2095A>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	a	8.843	0.942725	0.18281	.	.	ENSG00000146648	ENST00000344576	T	0.81247	-1.47	2.62	-3.18	0.05186	.	.	.	.	.	T	0.58495	0.2126	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.18263	0.021	T	0.46748	-0.9169	9	0.87932	D	0	.	4.9915	0.14216	0.5092:0.3669:0.1239:0.0	.	699	P00533-3	.	F	699	ENSP00000345973:I699F	ENSP00000345973:I699F	I	+	1	0	EGFR	55205708	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.721000	0.04963	-0.745000	0.04772	-2.184000	0.00315	ATC		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		39	100	0	0	0	1	0	39	100				
TNC	3371	broad.mit.edu	37	9	117849399	117849399	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:117849399T>C	ENST00000350763.4	-	3	1022	c.611A>G	c.(610-612)cAg>cGg	p.Q204R	TNC_ENST00000535648.1_Missense_Mutation_p.Q204R|TNC_ENST00000340094.3_Missense_Mutation_p.Q204R|TNC_ENST00000341037.4_Missense_Mutation_p.Q204R|TNC_ENST00000345230.3_Missense_Mutation_p.Q204R|TNC_ENST00000346706.3_Missense_Mutation_p.Q204R|TNC_ENST00000537320.1_Missense_Mutation_p.Q204R|TNC_ENST00000423613.2_Missense_Mutation_p.Q204R|TNC_ENST00000542877.1_Missense_Mutation_p.Q204R	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	204	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACAGATGCACTGCCCATCAAT	0.607																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(610-612)cAg>cGg		tenascin C							103.0	88.0	94.0					9																	117849399		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117849399T>C		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.611A>G	9.37:g.117849399T>C	ENSP00000265131:p.Gln204Arg					TNC_ENST00000341037.4_Missense_Mutation_p.Q204R|TNC_ENST00000340094.3_Missense_Mutation_p.Q204R|TNC_ENST00000537320.1_Missense_Mutation_p.Q204R|TNC_ENST00000535648.1_Missense_Mutation_p.Q204R|TNC_ENST00000542877.1_Missense_Mutation_p.Q204R|TNC_ENST00000423613.2_Missense_Mutation_p.Q204R|TNC_ENST00000345230.3_Missense_Mutation_p.Q204R|TNC_ENST00000346706.3_Missense_Mutation_p.Q204R	p.Q204R	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	1022	-			204			EGF-like 2.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.611A>G	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.959539	0.34565	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.04317	3.65;3.65;3.65;3.65;3.65;3.65;3.65;3.65;3.65	5.19	5.19	0.71726	EGF, extracellular (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.226334	0.37219	N	0.002193	T	0.04952	0.0133	N	0.16790	0.44	0.22693	N	0.998847	P;P	0.43750	0.687;0.816	P;P	0.49887	0.542;0.625	T	0.33803	-0.9854	10	0.07482	T	0.82	.	10.645	0.45615	0.0:0.0:0.1606:0.8394	.	204;204	E9PC84;P24821	.;TENA_HUMAN	R	204	ENSP00000344400:Q204R;ENSP00000438152:Q204R;ENSP00000344555:Q204R;ENSP00000345861:Q204R;ENSP00000265131:Q204R;ENSP00000339553:Q204R;ENSP00000411406:Q204R;ENSP00000443478:Q204R;ENSP00000442242:Q204R	ENSP00000344400:Q204R	Q	-	2	0	TNC	116889220	0.000000	0.05858	0.993000	0.49108	0.687000	0.40016	0.422000	0.21296	2.090000	0.63153	0.383000	0.25322	CAG		0.607	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		38	108	0	0	0	1	0	38	108				
ACACB	32	broad.mit.edu	37	12	109629715	109629715	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:109629715T>C	ENST00000338432.7	+	15	2478	c.2359T>C	c.(2359-2361)Ttc>Ctc	p.F787L	ACACB_ENST00000377854.5_Missense_Mutation_p.F787L|ACACB_ENST00000377848.3_Missense_Mutation_p.F787L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	787					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CGATGCGATGTTCAGAACGTG	0.527																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2359-2361)Ttc>Ctc		acetyl-CoA carboxylase beta	Biotin(DB00121)						138.0	115.0	123.0					12																	109629715		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109629715T>C	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2359T>C	12.37:g.109629715T>C	ENSP00000341044:p.Phe787Leu					ACACB_ENST00000377848.3_Missense_Mutation_p.F787L|ACACB_ENST00000377854.5_Missense_Mutation_p.F787L	p.F787L			O00763	ACACB_HUMAN			15	2478	+			787					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.2359T>C	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.603786	0.46423	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	D;D;D	0.95342	-3.67;-3.67;-3.68	5.32	5.32	0.75619	.	0.123056	0.64402	D	0.000010	D	0.90659	0.7070	L	0.43152	1.355	0.80722	D	1	B	0.11235	0.004	B	0.12837	0.008	D	0.86624	0.1881	10	0.11182	T	0.66	.	14.5028	0.67734	0.0:0.0:0.0:1.0	.	787	O00763	ACACB_HUMAN	L	787;787;787;18	ENSP00000341044:F787L;ENSP00000367079:F787L;ENSP00000367085:F787L	ENSP00000341044:F787L	F	+	1	0	ACACB	108114098	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	6.296000	0.72751	2.024000	0.59613	0.477000	0.44152	TTC		0.527	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		4	114	0	0	0	1	0	4	114				
ATP11B	23200	broad.mit.edu	37	3	182631660	182631660	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:182631660A>G	ENST00000323116.5	+	29	3590	c.3330A>G	c.(3328-3330)acA>acG	p.T1110T		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1110					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TTACTGAAACAAATGCAGGTA	0.423																																						ENST00000323116.5																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(3328-3330)acA>acG		ATPase, class VI, type 11B							261.0	263.0	262.0					3																	182631660		2203	4300	6503	SO:0001819	synonymous_variant	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182631660A>G	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.3330A>G	3.37:g.182631660A>G							p.T1110T	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		29	3590	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		1110					Q96FN1|Q9UKK7	Silent	SNP	ENST00000323116.5	37	c.3330A>G	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	A	7.156	0.584797	0.13749	.	.	ENSG00000058063	ENST00000498086;ENST00000491699	.	.	.	5.24	2.79	0.32731	.	.	.	.	.	T	0.57799	0.2078	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50363	-0.8837	4	.	.	.	.	8.562	0.33516	0.7361:0.1351:0.0:0.1288	.	.	.	.	E	940;95	.	.	K	+	1	0	ATP11B	184114354	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.793000	0.55484	0.373000	0.24621	0.533000	0.62120	AAA		0.423	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		133	350	0	0	0	1	0	133	350				
PDZRN4	29951	broad.mit.edu	37	12	41957354	41957354	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:41957354A>G	ENST00000402685.2	+	8	1378	c.1370A>G	c.(1369-1371)aAt>aGt	p.N457S	PDZRN4_ENST00000298919.7_Missense_Mutation_p.N197S|PDZRN4_ENST00000539469.2_Missense_Mutation_p.N199S	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	457	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTCTAGATAAATGGGGAAGAT	0.418																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(589-591)aAt>aGt		PDZ domain containing ring finger 4							109.0	101.0	104.0					12																	41957354		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41957354A>G	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1370A>G	12.37:g.41957354A>G	ENSP00000384197:p.Asn457Ser					PDZRN4_ENST00000539469.2_Missense_Mutation_p.N199S|PDZRN4_ENST00000402685.2_Missense_Mutation_p.N457S	p.N197S			Q6ZMN7	PZRN4_HUMAN			8	978	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	457					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.590A>G	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379364	0.82682	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.59224	0.28;0.28;0.28	5.19	5.19	0.71726	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.79281	0.4419	M	0.86420	2.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.83497	0.0073	10	0.87932	D	0	-40.2648	15.7551	0.78018	1.0:0.0:0.0:0.0	.	457;197;199	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	S	457;199;197	ENSP00000384197:N457S;ENSP00000439990:N199S;ENSP00000298919:N197S	ENSP00000298919:N197S	N	+	2	0	PDZRN4	40243621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.283000	0.95860	2.252000	0.74401	0.533000	0.62120	AAT		0.418	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		5	62	0	0	0	1	0	5	62				
IGHV1-46	28465	broad.mit.edu	37	14	106967567	106967567	+	RNA	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:106967567T>C	ENST00000390622.2	-	0	221									immunoglobulin heavy variable 1-46																		GATGTATCCATATTTACCTCA	0.433																																						ENST00000390622.2																			0																																																			28465							g.chr14:106967567T>C	X92343		14q32.33	2012-02-08			ENSG00000211962	ENSG00000211962		"""Immunoglobulins / IGH locus"""	5554	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151963		14.37:g.106967567T>C														0	221	-									RNA	SNP	ENST00000390622.2	37																																																																																						0.433	IGHV1-46-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324609.1	NG_001019		13	21	0	0	0	1	0	13	21				
PCDHA5	56143	broad.mit.edu	37	5	140203059	140203059	+	Missense_Mutation	SNP	C	C	T	rs17844296		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140203059C>T	ENST00000529859.1	+	1	1699	c.1699C>T	c.(1699-1701)Cct>Tct	p.P567S	PCDHA5_ENST00000378126.3_Missense_Mutation_p.P567S|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.P567S	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	567					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCTGGTGCCTCGAGTGGG	0.716																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1699-1701)Cct>Tct									48.0	54.0	52.0					5																	140203059		2202	4298	6500	SO:0001583	missense	56143							g.chr5:140203059C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1699C>T	5.37:g.140203059C>T	ENSP00000436557:p.Pro567Ser					PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.P567S|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.P567S|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.P567S	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1699	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1699C>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	5.143	0.211911	0.09757	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.60040	0.22;0.22;0.22	4.0	2.18	0.27775	Cadherin-like (1);	.	.	.	.	T	0.47637	0.1456	L	0.47078	1.49	0.09310	N	1	B;B;B	0.29612	0.193;0.251;0.251	B;B;B	0.32022	0.089;0.139;0.098	T	0.44436	-0.9328	9	0.56958	D	0.05	.	4.8053	0.13317	0.0:0.6173:0.1761:0.2066	rs17844296	567;567;567	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	S	567	ENSP00000433416:P567S;ENSP00000436557:P567S;ENSP00000367366:P567S	ENSP00000367366:P567S	P	+	1	0	PCDHA5	140183243	0.000000	0.05858	0.015000	0.15790	0.108000	0.19459	-0.002000	0.12924	0.291000	0.22468	-0.384000	0.06662	CCT		0.716	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		15	233	0	0	0	1	0	15	233				
CCDC78	124093	broad.mit.edu	37	16	774151	774151	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:774151T>C	ENST00000293889.6	-	10	1113	c.1008A>G	c.(1006-1008)ccA>ccG	p.P336P	HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	336					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GCACGGGCAATGGTTCCAGGT	0.627																																						ENST00000293889.6																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9						c.(1006-1008)ccA>ccG		coiled-coil domain containing 78							61.0	71.0	67.0					16																	774151		2200	4299	6499	SO:0001819	synonymous_variant	124093							g.chr16:774151T>C	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.1008A>G	16.37:g.774151T>C							p.P336P	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN			10	1113	-		Hepatocellular(780;0.0218)	336					B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Silent	SNP	ENST00000293889.6	37	c.1008A>G	CCDS32353.1	.	.	.	.	.	.	.	.	.	.	T	5.507	0.278530	0.10403	.	.	ENSG00000162004	ENST00000345165	.	.	.	3.75	-3.64	0.04515	.	.	.	.	.	T	0.27313	0.0670	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.33420	-0.9869	4	.	.	.	-0.7234	6.3548	0.21395	0.0:0.5796:0.1832:0.2372	.	.	.	.	R	185	.	.	H	-	2	0	CCDC78	714152	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.175000	0.09825	-0.462000	0.06984	0.459000	0.35465	CAT		0.627	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3	NM_173476		32	68	0	0	0	1	0	32	68				
KMT2D	8085	broad.mit.edu	37	12	49415624	49415624	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:49415624T>C	ENST00000301067.7	-	54	16552	c.16553A>G	c.(16552-16554)gAc>gGc	p.D5518G	RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000548065.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5518					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)										GTGCTGATCGTCCTCAAAATC	0.507																																						ENST00000301067.7																			0											c.(16552-16554)gAc>gGc		lysine (K)-specific methyltransferase 2D							75.0	73.0	74.0					12																	49415624		1957	4160	6117	SO:0001583	missense	8085							g.chr12:49415624T>C	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.16553A>G	12.37:g.49415624T>C	ENSP00000301067:p.Asp5518Gly						p.D5518G	NM_003482.3	NP_003473.3					54	16552	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.16553A>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	t	10.49	1.366174	0.24684	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.85484	-1.99;-1.99	4.31	4.31	0.51392	SET domain (1);	0.000000	0.38111	N	0.001808	D	0.88727	0.6515	L	0.42744	1.35	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.89742	0.3934	10	0.87932	D	0	.	12.9346	0.58307	0.0:0.0:0.0:1.0	.	5518	O14686	MLL2_HUMAN	G	5518;199	ENSP00000301067:D5518G;ENSP00000435714:D199G	ENSP00000301067:D5518G	D	-	2	0	MLL2	47701891	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.781000	0.85668	1.962000	0.57031	0.374000	0.22700	GAC		0.507	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			24	103	0	0	0	1	0	24	103				
SORBS2	8470	broad.mit.edu	37	4	186545479	186545479	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:186545479G>A	ENST00000284776.7	-	13	1601	c.1092C>T	c.(1090-1092)aaC>aaT	p.N364N	SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000431808.1_Silent_p.N364N|SORBS2_ENST00000418609.1_Silent_p.N268N|SORBS2_ENST00000355634.5_Silent_p.N464N|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	364					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGATTTCTGCGTTTTGCCGGG	0.517																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1090-1092)aaC>aaT		sorbin and SH3 domain containing 2							68.0	68.0	68.0					4																	186545479		2203	4300	6503	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545479G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1092C>T	4.37:g.186545479G>A						SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Silent_p.N268N|SORBS2_ENST00000284776.7_Silent_p.N364N|SORBS2_ENST00000355634.5_Silent_p.N464N|SORBS2_ENST00000449407.2_Intron	p.N364N			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	1655	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	364					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.1092C>T	CCDS3845.1																																																																																				0.517	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		13	55	0	0	0	1	0	13	55				
TNRC18	84629	broad.mit.edu	37	7	5427892	5427892	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:5427892C>T	ENST00000430969.1	-	5	1911	c.1563G>A	c.(1561-1563)acG>acA	p.T521T	TNRC18_ENST00000399537.4_Silent_p.T521T	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	521							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGGCCATCTGCGTGGCGGCGA	0.701																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(1561-1563)acG>acA		trinucleotide repeat containing 18							8.0	11.0	10.0					7																	5427892		1936	4099	6035	SO:0001819	synonymous_variant	84629						DNA binding	g.chr7:5427892C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.1563G>A	7.37:g.5427892C>T						TNRC18_ENST00000430969.1_Silent_p.T521T	p.T521T			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	5	1911	-		Ovarian(82;0.142)	521					A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	c.1563G>A	CCDS47534.1																																																																																				0.701	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				6	27	0	0	0	1	0	6	27				
SSPO	23145	broad.mit.edu	37	7	149523280	149523280	+	RNA	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:149523280G>A	ENST00000378016.2	+	0	14366							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGCGACATCGGACTTGTGAG	0.657																																						ENST00000378016.2																			0													SCO-spondin							36.0	44.0	42.0					7																	149523280		1955	4133	6088			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149523280G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149523280G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	14366	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				17	61	0	0	0	1	0	17	61				
FOXQ1	94234	broad.mit.edu	37	6	1313539	1313539	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:1313539C>T	ENST00000296839.2	+	1	865	c.600C>T	c.(598-600)agC>agT	p.S200S		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	200					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ACCCCAACAGCGAGTACACCT	0.716																																						ENST00000296839.2																			0				lung(1)|urinary_tract(1)	2						c.(598-600)agC>agT		forkhead box Q1							30.0	34.0	32.0					6																	1313539		2200	4292	6492	SO:0001819	synonymous_variant	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding	g.chr6:1313539C>T	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.600C>T	6.37:g.1313539C>T							p.S200S	NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	865	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	200					Q9NS06	Silent	SNP	ENST00000296839.2	37	c.600C>T	CCDS4471.1																																																																																				0.716	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		19	55	0	0	0	1	0	19	55				
TAF6	6878	broad.mit.edu	37	7	99711975	99711975	+	Intron	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:99711975G>T	ENST00000344095.4	-	2	467				TAF6_ENST00000453269.2_Intron|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000497233.1_Intron|TAF6_ENST00000452041.1_Intron|TAF6_ENST00000472509.1_Missense_Mutation_p.P10H|TAF6_ENST00000418432.2_Intron|TAF6_ENST00000437822.2_Intron	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa						DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTGGAGACAGGGGAGGAACTC	0.567																																						ENST00000472509.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26						c.(28-30)cCc>cAc		TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa																																				SO:0001627	intron_variant	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99711975G>T		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.59-84C>A	7.37:g.99711975G>T						TAF6_ENST00000453269.2_Intron|TAF6_ENST00000452041.1_Intron|TAF6_ENST00000437822.2_Intron|TAF6_ENST00000344095.4_Intron|TAF6_ENST00000418432.2_Intron|TAF6_ENST00000497233.1_Intron	p.P10H			P49848	TAF6_HUMAN			1	206	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		0					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	c.29C>A	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	G	7.603	0.673283	0.14776	.	.	ENSG00000106290	ENST00000472509	T	0.49139	0.79	1.35	0.381	0.16228	.	.	.	.	.	T	0.33177	0.0854	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.25984	-1.0116	5	.	.	.	.	5.2507	0.15521	0.0:0.3712:0.6288:0.0	.	.	.	.	H	10	ENSP00000419760:P10H	.	P	-	2	0	TAF6	99549911	0.012000	0.17670	0.013000	0.15412	0.019000	0.09904	1.135000	0.31454	0.137000	0.18759	0.491000	0.48974	CCC		0.567	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		5	6	1	0	0.000602214	1	0.000609374	5	6				
TRIO	7204	broad.mit.edu	37	5	14487613	14487613	+	Silent	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:14487613G>C	ENST00000344204.4	+	48	6900	c.6876G>C	c.(6874-6876)ggG>ggC	p.G2292G	TRIO_ENST00000344135.5_5'Flank|TRIO_ENST00000537187.1_Silent_p.G2292G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2292	Poly-Gly.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACCACAgcgggggcggcggcg	0.756																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(6874-6876)ggG>ggC		trio Rho guanine nucleotide exchange factor							8.0	9.0	9.0					5																	14487613		2040	3904	5944	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14487613G>C	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6876G>C	5.37:g.14487613G>C						TRIO_ENST00000537187.1_Silent_p.G2292G	p.G2292G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			48	6900	+	Lung NSC(4;0.000742)		2292			Poly-Gly.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.6876G>C	CCDS3883.1																																																																																				0.756	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		9	24	0	0	0	1	0	9	24				
PHF2	5253	broad.mit.edu	37	9	96437210	96437210	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:96437210T>C	ENST00000359246.4	+	19	2995	c.2628T>C	c.(2626-2628)gtT>gtC	p.V876V	PHF2_ENST00000375376.4_Splice_Site_p.V107V	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	876					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)		TCCCTCTAGTTTACCCCTCAC	0.612																																						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.e19-1		PHD finger protein 2							81.0	72.0	75.0					9																	96437210		2203	4300	6503	SO:0001630	splice_region_variant	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.chr9:96437210T>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.2627-1T>C	9.37:g.96437210T>C						PHF2_ENST00000375376.4_Splice_Site_p.V107_splice	p.V876_splice	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	19	2995	+		Myeloproliferative disorder(762;0.0255)	876					Q4VXG0|Q8N3K2|Q9Y6N4	Splice_Site	SNP	ENST00000359246.4	37	c.2626_splice	CCDS35069.1																																																																																				0.612	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392	Silent	24	79	0	0	0	1	0	24	79				
RXRA	6256	broad.mit.edu	37	9	137328392	137328392	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:137328392C>T	ENST00000481739.1	+	10	1373	c.1321C>T	c.(1321-1323)Ctc>Ttc	p.L441F	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Missense_Mutation_p.L344F	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	441	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CTTCTTCAAGCTCATCGGGGA	0.587																																						ENST00000540193.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1030-1032)Ctc>Ttc		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						151.0	131.0	138.0					9																	137328392		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137328392C>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1321C>T	9.37:g.137328392C>T	ENSP00000419692:p.Leu441Phe					RXRA_ENST00000481739.1_Missense_Mutation_p.L441F|RXRA_ENST00000356384.4_3'UTR	p.L344F			P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	9	1953	+			441			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.1030C>T	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560475	0.86335	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.98105	-4.72;-4.72	4.76	3.87	0.44632	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	D	0.99007	0.9661	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99271	1.0893	10	0.87932	D	0	.	12.8587	0.57901	0.0:0.9206:0.0:0.0794	.	441	P19793	RXRA_HUMAN	F	441;344	ENSP00000419692:L441F;ENSP00000442123:L344F	ENSP00000419692:L441F	L	+	1	0	RXRA	136468213	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.532000	0.81985	1.004000	0.39156	0.591000	0.81541	CTC		0.587	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		7	144	0	0	0	1	0	7	144				
KCND2	3751	broad.mit.edu	37	7	119915701	119915701	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:119915701G>A	ENST00000331113.4	+	1	1980	c.1015G>A	c.(1015-1017)Gct>Act	p.A339T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	339					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CATCATCTTCGCTACAGTTAT	0.517																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(1015-1017)Gct>Act		potassium voltage-gated channel, Shal-related subfamily, member 2							157.0	121.0	133.0					7																	119915701		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915701G>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1015G>A	7.37:g.119915701G>A	ENSP00000333496:p.Ala339Thr						p.A339T	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1980	+	all_neural(327;0.117)		339					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.1015G>A	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553799	0.86231	.	.	ENSG00000184408	ENST00000331113	D	0.98400	-4.91	5.4	5.4	0.78164	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98573	0.9523	M	0.62209	1.925	0.80722	D	1	D	0.65815	0.995	D	0.65684	0.937	D	0.98669	1.0687	9	.	.	.	.	19.5371	0.95257	0.0:0.0:1.0:0.0	.	339	Q9NZV8	KCND2_HUMAN	T	339	ENSP00000333496:A339T	.	A	+	1	0	KCND2	119702937	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	7.809000	0.86057	2.706000	0.92434	0.557000	0.71058	GCT		0.517	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		27	89	0	0	0	1	0	27	89				
AGAP11	119385	broad.mit.edu	37	10	88753124	88753124	+	RNA	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:88753124A>G	ENST00000444431.1	+	0	70				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										AATAGGACTCAGGATTTGAAG	0.348																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11																																						119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88753124A>G			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88753124A>G						RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	70	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.348	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		20	56	0	0	0	1	0	20	56				
KMT2B	9757	broad.mit.edu	37	19	36221448	36221448	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:36221448G>T	ENST00000222270.7	+	25	5207	c.5207G>T	c.(5206-5208)cGc>cTc	p.R1736L	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R1736L	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1736	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGTTCCATCCGCATTGACTCC	0.612																																						ENST00000420124.1																			0											c.(5206-5208)cGc>cTc									254.0	269.0	264.0					19																	36221448		2190	4278	6468	SO:0001583	missense	9757							g.chr19:36221448G>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5207G>T	19.37:g.36221448G>T	ENSP00000222270:p.Arg1736Leu					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.R1736L	p.R1736L							25	5207	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.5207G>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	8.842	0.942513	0.18281	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	T;T	0.76448	-1.02;-1.02	5.79	3.49	0.39957	FY-rich, N-terminal (1);	0.000000	0.38217	N	0.001778	T	0.38348	0.1037	N	0.00413	-1.525	0.24854	N	0.992384	P	0.44776	0.843	B	0.40741	0.339	T	0.47812	-0.9088	10	0.09084	T	0.74	.	5.7324	0.18047	0.149:0.3346:0.5164:0.0	.	1736	Q9UMN6	MLL4_HUMAN	L	1736	ENSP00000222270:R1736L;ENSP00000398837:R1736L	ENSP00000222270:R1736L	R	+	2	0	AD000671.1	40913288	0.016000	0.18221	0.985000	0.45067	0.668000	0.39293	0.678000	0.25277	1.409000	0.46915	0.655000	0.94253	CGC		0.612	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		6	553	1	0	3.59834e-05	1	3.66827e-05	6	553				
BOD1L1	259282	broad.mit.edu	37	4	13578511	13578511	+	Missense_Mutation	SNP	C	C	T	rs140860052		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:13578511C>T	ENST00000040738.5	-	25	9124	c.8989G>A	c.(8989-8991)Gag>Aag	p.E2997K		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2997	Poly-Glu.					nucleus (GO:0005634)	DNA binding (GO:0003677)										CCTGAAGGctcgtcctcttcc	0.527																																						ENST00000040738.5																			0											c.(8989-8991)Gag>Aag		biorientation of chromosomes in cell division 1-like 1		C	LYS/GLU	0,4406		0,0,2203	179.0	159.0	166.0		8989	5.5	0.9	4	dbSNP_134	166	1,8599	1.2+/-3.3	0,1,4299	no	missense	BOD1L	NM_148894.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2997/3052	13578511	1,13005	2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13578511C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8989G>A	4.37:g.13578511C>T	ENSP00000040738:p.Glu2997Lys						p.E2997K	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			25	9124	-			2997			Poly-Glu.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.8989G>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475130	0.63737	0.0	1.16E-4	ENSG00000038219	ENST00000040738	T	0.12672	2.66	5.52	5.52	0.82312	.	0.219434	0.32081	N	0.006616	T	0.27594	0.0678	L	0.29908	0.895	0.40852	D	0.98376	D	0.89917	1.0	D	0.81914	0.995	T	0.01734	-1.1285	10	0.62326	D	0.03	-6.0742	17.2146	0.86939	0.0:1.0:0.0:0.0	.	2997	Q8NFC6	BOD1L_HUMAN	K	2997	ENSP00000040738:E2997K	ENSP00000040738:E2997K	E	-	1	0	BOD1L	13187609	0.978000	0.34361	0.934000	0.37439	0.450000	0.32258	3.239000	0.51360	2.598000	0.87819	0.655000	0.94253	GAG		0.527	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		8	173	0	0	0	1	0	8	173				
CELSR1	9620	broad.mit.edu	37	22	46931225	46931225	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:46931225C>T	ENST00000262738.3	-	1	1842	c.1843G>A	c.(1843-1845)Ggc>Agc	p.G615S	CELSR1_ENST00000395964.1_Missense_Mutation_p.G615S|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	615	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCAGCGCTGCCGCCCCCCAGA	0.652																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(1843-1845)Ggc>Agc		cadherin, EGF LAG seven-pass G-type receptor 1							24.0	27.0	26.0					22																	46931225		2203	4296	6499	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46931225C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1843G>A	22.37:g.46931225C>T	ENSP00000262738:p.Gly615Ser					CELSR1_ENST00000395964.1_Missense_Mutation_p.G615S	p.G615S	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	1842	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	615			Cadherin 4.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.1843G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	1.752	-0.488939	0.04352	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.68331	-0.32;-0.01	4.44	-0.483	0.12075	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.44307	0.1287	N	0.25201	0.72	0.09310	N	1	B	0.24576	0.106	B	0.19946	0.027	T	0.22730	-1.0208	9	0.18276	T	0.48	.	5.5151	0.16902	0.0:0.5813:0.1451:0.2736	.	615	Q9NYQ6	CELR1_HUMAN	S	615	ENSP00000262738:G615S;ENSP00000379293:G615S	ENSP00000262738:G615S	G	-	1	0	CELSR1	45309889	0.000000	0.05858	0.019000	0.16419	0.060000	0.15804	0.074000	0.14662	0.313000	0.23062	0.313000	0.20887	GGC		0.652	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		9	57	0	0	0	1	0	9	57				
VIPR2	7434	broad.mit.edu	37	7	158829514	158829514	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:158829514T>G	ENST00000262178.2	-	7	862	c.677A>C	c.(676-678)tAc>tCc	p.Y226S	VIPR2_ENST00000377633.3_Missense_Mutation_p.Y210S|VIPR2_ENST00000402066.1_Missense_Mutation_p.Y367S	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	226					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GGTGTGGAGGTAGAGCCCCTC	0.602																																					Pancreas(154;1876 1931 2329 17914 20079)	ENST00000262178.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(676-678)tAc>tCc		vasoactive intestinal peptide receptor 2							79.0	66.0	70.0					7																	158829514		2203	4300	6503	SO:0001583	missense	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158829514T>G	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.677A>C	7.37:g.158829514T>G	ENSP00000262178:p.Tyr226Ser					VIPR2_ENST00000377633.3_Missense_Mutation_p.Y210S|VIPR2_ENST00000402066.1_Missense_Mutation_p.Y367S	p.Y226S	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	7	862	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	226					Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	c.677A>C	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.924493	0.52653	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.37752	1.18;1.18;1.18	4.68	4.68	0.58851	GPCR, family 2-like (1);	0.491537	0.17324	N	0.178372	T	0.66982	0.2845	M	0.93638	3.44	0.80722	D	1	D	0.63046	0.992	D	0.66351	0.943	T	0.74864	-0.3519	9	.	.	.	.	12.1178	0.53875	0.0:0.0:0.0:1.0	.	226	P41587	VIPR2_HUMAN	S	226;210;367	ENSP00000262178:Y226S;ENSP00000366860:Y210S;ENSP00000384497:Y367S	.	Y	-	2	0	VIPR2	158522275	1.000000	0.71417	0.965000	0.40720	0.169000	0.22640	5.320000	0.65841	1.741000	0.51731	0.459000	0.35465	TAC		0.602	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		5	57	0	0	0	1	0	5	57				
HSF1	3297	broad.mit.edu	37	8	145533482	145533482	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145533482A>G	ENST00000528838.1	+	4	548	c.388A>G	c.(388-390)Ata>Gta	p.I130V	HSF1_ENST00000400780.4_Missense_Mutation_p.I65V	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	130	Hydrophobic repeat HR-A/B.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	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 negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GAGTGAAGACATAAAGATCCG	0.592																																						ENST00000528838.1																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11						c.(388-390)Ata>Gta		heat shock transcription factor 1							94.0	92.0	93.0					8																	145533482		2203	4296	6499	SO:0001583	missense	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145533482A>G	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.388A>G	8.37:g.145533482A>G	ENSP00000431512:p.Ile130Val					HSF1_ENST00000400780.4_Missense_Mutation_p.I65V	p.I130V	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		4	548	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		130			Hydrophobic repeat HR-A/B.		A8K4L0|A8MW26|Q53XT4	Missense_Mutation	SNP	ENST00000528838.1	37	c.388A>G	CCDS6419.1	.	.	.	.	.	.	.	.	.	.	A	8.336	0.827669	0.16749	.	.	ENSG00000185122	ENST00000528838;ENST00000533240;ENST00000400780	.	.	.	5.18	2.65	0.31530	.	0.387908	0.26944	N	0.021713	T	0.15435	0.0372	N	0.04508	-0.205	0.31636	N	0.648409	B	0.02656	0.0	B	0.04013	0.001	T	0.10222	-1.0639	9	0.16420	T	0.52	-16.7642	3.047	0.06157	0.6317:0.0:0.1899:0.1784	.	130	Q00613	HSF1_HUMAN	V	130;65;65	.	ENSP00000383590:I65V	I	+	1	0	HSF1	145504290	0.000000	0.05858	0.985000	0.45067	0.838000	0.47535	0.849000	0.27723	0.816000	0.34421	0.454000	0.30748	ATA		0.592	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1	NM_005526		10	137	0	0	0	1	0	10	137				
NPY5R	4889	broad.mit.edu	37	4	164271697	164271697	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:164271697T>C	ENST00000515560.1	+	4	1794	c.272T>C	c.(271-273)gTg>gCg	p.V91A	NPY5R_ENST00000506953.1_Missense_Mutation_p.V91A|NPY5R_ENST00000338566.3_Missense_Mutation_p.V91A			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	91					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATCTTGGTTGTGCTGTTTTGC	0.413																																					Melanoma(139;1287 1774 9781 19750 25599)	ENST00000515560.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(271-273)gTg>gCg		neuropeptide Y receptor Y5							315.0	307.0	309.0					4																	164271697		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271697T>C	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.272T>C	4.37:g.164271697T>C	ENSP00000423917:p.Val91Ala					NPY5R_ENST00000338566.3_Missense_Mutation_p.V91A|NPY5R_ENST00000506953.1_Missense_Mutation_p.V91A	p.V91A			Q15761	NPY5R_HUMAN			4	1794	+	all_hematologic(180;0.166)	Prostate(90;0.109)	91					Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.272T>C	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.293071	0.40594	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.36520	1.25;1.25;1.25	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000089	T	0.20129	0.0484	N	0.13140	0.3	0.33074	D	0.535708	B	0.21905	0.062	B	0.18263	0.021	T	0.12502	-1.0545	10	0.02654	T	1	.	15.2084	0.73198	0.0:0.0:0.0:1.0	.	91	Q15761	NPY5R_HUMAN	A	91	ENSP00000339377:V91A;ENSP00000423917:V91A;ENSP00000423474:V91A	ENSP00000339377:V91A	V	+	2	0	NPY5R	164491147	0.976000	0.34144	1.000000	0.80357	0.995000	0.86356	1.913000	0.39956	2.048000	0.60808	0.482000	0.46254	GTG		0.413	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		65	225	0	0	0	1	0	65	225				
CLVS2	134829	broad.mit.edu	37	6	123318930	123318930	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:123318930A>G	ENST00000275162.5	+	2	1343	c.8A>G	c.(7-9)cAt>cGt	p.H3R	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	3					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ACAATGACTCATTTGCAAGCC	0.557																																						ENST00000275162.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						c.(7-9)cAt>cGt		clavesin 2							67.0	69.0	68.0					6																	123318930		2203	4300	6503	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123318930A>G	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.8A>G	6.37:g.123318930A>G	ENSP00000275162:p.His3Arg					CLVS2_ENST00000368438.1_Intron	p.H3R	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN			2	1343	+			3					B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.8A>G	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268408	0.80469	.	.	ENSG00000146352	ENST00000275162	T	0.79845	-1.31	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	L	0.40543	1.245	0.80722	D	1	D	0.63046	0.992	D	0.67725	0.953	T	0.74982	-0.3478	10	0.13853	T	0.58	-2.0864	15.1476	0.72671	1.0:0.0:0.0:0.0	.	3	Q5SYC1	CLVS2_HUMAN	R	3	ENSP00000275162:H3R	ENSP00000275162:H3R	H	+	2	0	CLVS2	123360629	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.060000	0.76692	2.171000	0.68590	0.397000	0.26171	CAT		0.557	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		21	62	0	0	0	1	0	21	62				
SCN8A	6334	broad.mit.edu	37	12	52159635	52159635	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52159635A>C	ENST00000354534.6	+	16	2903	c.2725A>C	c.(2725-2727)Aac>Cac	p.N909H	SCN8A_ENST00000550891.1_Missense_Mutation_p.N909H|SCN8A_ENST00000545061.1_Missense_Mutation_p.N909H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	909					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CTGCAAGATCAACCAGGACTG	0.493																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2725-2727)Aac>Cac		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						159.0	164.0	163.0					12																	52159635		2203	4300	6503	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52159635A>C	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2725A>C	12.37:g.52159635A>C	ENSP00000346534:p.Asn909His					SCN8A_ENST00000545061.1_Missense_Mutation_p.N909H|SCN8A_ENST00000550891.1_Missense_Mutation_p.N909H	p.N909H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	16	2903	+			909					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.2725A>C	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.439788	0.43326	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97	4.66	4.66	0.58398	Ion transport (1);	0.156333	0.56097	D	0.000028	D	0.97368	0.9139	N	0.20401	0.57	0.37431	D	0.914016	D;P;D	0.67145	0.996;0.936;0.989	D;P;P	0.63597	0.916;0.568;0.866	D	0.99924	1.1275	10	0.87932	D	0	.	15.1572	0.72752	1.0:0.0:0.0:0.0	.	909;909;909	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	H	909;909;909;909;822	ENSP00000448415:N909H;ENSP00000346534:N909H;ENSP00000440360:N909H;ENSP00000347255:N909H	ENSP00000346534:N909H	N	+	1	0	SCN8A	50445902	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	2.250000	0.43178	2.317000	0.78254	0.460000	0.39030	AAC		0.493	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		4	191	0	0	0	1	0	4	191				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	75	0	0	0	1	0	4	75				
ELMSAN1	91748	broad.mit.edu	37	14	74206218	74206218	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:74206218A>G	ENST00000286523.5	-	2	1276	c.494T>C	c.(493-495)cTg>cCg	p.L165P	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.L165P|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										CTCCCGCTTCAGTGCCTCAGG	0.617																																						ENST00000286523.5																			0											c.(493-495)cTg>cCg		ELM2 and Myb/SANT-like domain containing 1							67.0	75.0	72.0					14																	74206218		2203	4300	6503	SO:0001583	missense	91748							g.chr14:74206218A>G	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.494T>C	14.37:g.74206218A>G	ENSP00000286523:p.Leu165Pro					ELMSAN1_ENST00000394071.2_Missense_Mutation_p.L165P	p.L165P	NM_194278.3	NP_919254.2					2	1276	-								Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	c.494T>C	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.791255	0.50102	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.03	3.9	0.45041	.	0.138179	0.32624	N	0.005854	T	0.20659	0.0497	L	0.27053	0.805	0.50632	D	0.999889	D;B	0.65815	0.995;0.013	P;B	0.60886	0.88;0.026	T	0.01935	-1.1244	10	0.87932	D	0	-15.2105	5.5856	0.17274	0.7671:0.0:0.0808:0.1521	.	165;165	A0PJD3;Q6PJG2	.;CN043_HUMAN	P	165	ENSP00000377634:L165P;ENSP00000286523:L165P;ENSP00000407767:L165P;ENSP00000402380:L165P	ENSP00000286523:L165P	L	-	2	0	C14orf43	73275971	0.990000	0.36364	0.988000	0.46212	0.877000	0.50540	2.192000	0.42649	1.893000	0.54813	0.379000	0.24179	CTG		0.617	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		39	161	0	0	0	1	0	39	161				
LIN7A	8825	broad.mit.edu	37	12	81205381	81205381	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:81205381T>A	ENST00000552864.1	-	5	767	c.565A>T	c.(565-567)Acc>Tcc	p.T189S		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	189	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						ACTTTTGGGGTGTATCGCACC	0.493																																						ENST00000552864.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						c.(565-567)Acc>Tcc		lin-7 homolog A (C. elegans)							125.0	109.0	114.0					12																	81205381		2203	4300	6503	SO:0001583	missense	8825				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding	g.chr12:81205381T>A	AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.565A>T	12.37:g.81205381T>A	ENSP00000447488:p.Thr189Ser						p.T189S	NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN			5	767	-			189			PDZ.		A4FTY3|Q147W1|Q6LES3|Q7LDS4	Missense_Mutation	SNP	ENST00000552864.1	37	c.565A>T	CCDS9021.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.865641	0.91511	.	.	ENSG00000111052	ENST00000552864	T	0.50001	0.76	5.13	5.13	0.70059	PDZ/DHR/GLGF (3);	0.093973	0.64402	D	0.000001	T	0.48390	0.1497	N	0.22421	0.69	0.80722	D	1	D	0.59357	0.985	P	0.55161	0.77	T	0.50608	-0.8808	10	0.49607	T	0.09	-8.8531	14.9425	0.71006	0.0:0.0:0.0:1.0	.	189	O14910	LIN7A_HUMAN	S	189	ENSP00000447488:T189S	ENSP00000447488:T189S	T	-	1	0	LIN7A	79729512	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	1.942000	0.56320	0.482000	0.46254	ACC		0.493	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1			7	70	0	0	0	1	0	7	70				
ALDH1A2	8854	broad.mit.edu	37	15	58256134	58256134	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:58256134C>G	ENST00000249750.4	-	9	1802	c.1035G>C	c.(1033-1035)aaG>aaC	p.K345N	ALDH1A2_ENST00000558231.1_Missense_Mutation_p.K316N|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.K249N|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.K324N|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.K307N	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	345					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	CTACGCGCCTCTTGGCCCGCT	0.522																																						ENST00000249750.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1033-1035)aaG>aaC		aldehyde dehydrogenase 1 family, member A2	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						80.0	82.0	81.0					15																	58256134		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58256134C>G	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.1035G>C	15.37:g.58256134C>G	ENSP00000249750:p.Lys345Asn					ALDH1A2_ENST00000537372.1_Missense_Mutation_p.K324N|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.K307N|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.K316N|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.K249N	p.K345N	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	9	1802	-			345					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.1035G>C	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526398	0.64860	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.78364	-1.17;-1.17;-1.17	5.6	5.6	0.85130	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.041854	0.85682	D	0.000000	T	0.78432	0.4282	L	0.48362	1.52	0.58432	D	0.999999	B;B;B;B	0.23650	0.043;0.035;0.089;0.059	B;B;B;B	0.34452	0.069;0.041;0.183;0.113	T	0.75377	-0.3339	10	0.87932	D	0	.	19.9894	0.97361	0.0:1.0:0.0:0.0	.	316;324;307;345	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	N	345;249;316;307;324	ENSP00000249750:K345N;ENSP00000309623:K307N;ENSP00000438296:K324N	ENSP00000249750:K345N	K	-	3	2	ALDH1A2	56043426	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.065000	0.49994	2.786000	0.95864	0.650000	0.86243	AAG		0.522	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			22	110	0	0	0	1	0	22	110				
TNS3	64759	broad.mit.edu	37	7	47408411	47408411	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:47408411A>G	ENST00000398879.1	-	17	2198	c.1832T>C	c.(1831-1833)cTg>cCg	p.L611P	TNS3_ENST00000355730.3_Missense_Mutation_p.L371P|TNS3_ENST00000311160.9_Missense_Mutation_p.L611P			Q68CZ2	TENS3_HUMAN	tensin 3	611					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCGGCTCACCAGCCGGGCCTC	0.657																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(1831-1833)cTg>cCg		tensin 3							40.0	45.0	43.0					7																	47408411		2015	4197	6212	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47408411A>G	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1832T>C	7.37:g.47408411A>G	ENSP00000381854:p.Leu611Pro					TNS3_ENST00000311160.9_Missense_Mutation_p.L611P|TNS3_ENST00000355730.3_Missense_Mutation_p.L371P	p.L611P			Q68CZ2	TENS3_HUMAN			17	2198	-			611					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.1832T>C	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	A	1.203	-0.631955	0.03584	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93763	-2.88;-2.88;-3.28;-3.0	5.11	2.65	0.31530	.	2.425710	0.02360	N	0.076787	D	0.89839	0.6831	L	0.44542	1.39	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.72880	-0.4158	10	0.32370	T	0.25	-22.4847	4.3183	0.11003	0.6098:0.0:0.086:0.3042	.	611	Q68CZ2	TENS3_HUMAN	P	611;721;611;371;67;714	ENSP00000312143:L611P;ENSP00000381854:L611P;ENSP00000347968:L371P;ENSP00000414358:L714P	ENSP00000312143:L611P	L	-	2	0	TNS3	47374936	0.002000	0.14202	0.038000	0.18304	0.008000	0.06430	1.357000	0.34090	0.239000	0.21243	0.533000	0.62120	CTG		0.657	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		4	107	0	0	0	1	0	4	107				
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:129116038C>T	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA					ribosomal protein L32 pseudogene 3											lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567																																						ENST00000514355.1																			0				lung(1)	1															146.0	143.0	144.0					3																	129116038		876	1991	2867			132241							g.chr3:129116038C>T	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129116038C>T														0	412	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.567	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			7	211	0	0	0	1	0	7	211				
ZFHX4	79776	broad.mit.edu	37	8	77767872	77767872	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:77767872G>A	ENST00000521891.2	+	10	9163	c.8715G>A	c.(8713-8715)gcG>gcA	p.A2905A	ZFHX4_ENST00000050961.6_Silent_p.A2860A|ZFHX4_ENST00000518282.1_Silent_p.A2879A|ZFHX4_ENST00000455469.2_Silent_p.A2860A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2860					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAGCATAGCGGACCCGAGCT	0.507										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(8713-8715)gcG>gcA		zinc finger homeobox 4							64.0	63.0	64.0					8																	77767872		1941	4137	6078	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767872G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8715G>A	8.37:g.77767872G>A		HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Silent_p.A2879A|ZFHX4_ENST00000455469.2_Silent_p.A2860A|ZFHX4_ENST00000050961.6_Silent_p.A2860A	p.A2905A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9163	+			2860					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.8715G>A	CCDS47878.2																																																																																				0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		36	66	0	0	0	1	0	36	66				
SLC26A2	1836	broad.mit.edu	37	5	149360191	149360191	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:149360191A>G	ENST00000286298.4	+	3	1303	c.1035A>G	c.(1033-1035)ttA>ttG	p.L345L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	345					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGCCACATTAGCCTCTCATT	0.383																																						ENST00000286298.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(1033-1035)ttA>ttG		solute carrier family 26 (anion exchanger), member 2							92.0	85.0	87.0					5																	149360191		2203	4300	6503	SO:0001819	synonymous_variant	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149360191A>G	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1035A>G	5.37:g.149360191A>G							p.L345L	NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	1303	+			345					A8K2U3|B2R6J1|Q6N051	Silent	SNP	ENST00000286298.4	37	c.1035A>G	CCDS4300.1																																																																																				0.383	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		4	92	0	0	0	1	0	4	92				
C11orf84	144097	broad.mit.edu	37	11	63581183	63581183	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:63581183G>A	ENST00000294244.4	+	1	324	c.25G>A	c.(25-27)Gca>Aca	p.A9T		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	9										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CGAGGGCGCCGCACTCGACTG	0.701																																						ENST00000294244.4																			0				endometrium(3)|kidney(1)|lung(3)|skin(1)	8						c.(25-27)Gca>Aca		chromosome 11 open reading frame 84							23.0	22.0	22.0					11																	63581183		2196	4293	6489	SO:0001583	missense	144097							g.chr11:63581183G>A	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.25G>A	11.37:g.63581183G>A	ENSP00000294244:p.Ala9Thr						p.A9T	NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN			1	324	+			9					Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	ENST00000294244.4	37	c.25G>A	CCDS31594.1	.	.	.	.	.	.	.	.	.	.	g	25.6	4.652002	0.88056	.	.	ENSG00000168005	ENST00000294244	T	0.51817	0.69	3.74	2.71	0.32032	.	0.779651	0.10941	N	0.617285	T	0.49558	0.1564	L	0.51422	1.61	0.23221	N	0.998094	D	0.58970	0.984	P	0.50754	0.649	T	0.38045	-0.9679	10	0.87932	D	0	-14.2744	8.2368	0.31631	0.0:0.335:0.665:0.0	.	9	Q9BUA3	CK084_HUMAN	T	9	ENSP00000294244:A9T	ENSP00000294244:A9T	A	+	1	0	C11orf84	63337759	0.997000	0.39634	1.000000	0.80357	0.924000	0.55760	0.650000	0.24858	1.785000	0.52413	0.306000	0.20318	GCA		0.701	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		3	14	0	0	0	1	0	3	14				
SLC16A9	220963	broad.mit.edu	37	10	61412691	61412691	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:61412691T>C	ENST00000395348.3	-	6	2005	c.1369A>G	c.(1369-1371)Acc>Gcc	p.T457A	SLC16A9_ENST00000395347.1_Missense_Mutation_p.T457A	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	457					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TAGGTCTGGGTCCAGTCATAA	0.398																																						ENST00000395348.3																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						c.(1369-1371)Acc>Gcc		solute carrier family 16, member 9							66.0	70.0	69.0					10																	61412691		2203	4300	6503	SO:0001583	missense	220963				urate metabolic process	integral to membrane|plasma membrane	symporter activity	g.chr10:61412691T>C	AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.1369A>G	10.37:g.61412691T>C	ENSP00000378757:p.Thr457Ala					SLC16A9_ENST00000395347.1_Missense_Mutation_p.T457A	p.T457A	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN			6	2005	-			457					Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	ENST00000395348.3	37	c.1369A>G	CCDS7256.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.964639	0.74131	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	D;D	0.81499	-1.5;-1.5	5.42	5.42	0.78866	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.133259	0.64402	N	0.000002	D	0.89563	0.6751	M	0.87038	2.855	0.80722	D	1	D	0.61080	0.989	P	0.60117	0.869	D	0.91336	0.5093	10	0.66056	D	0.02	.	15.4448	0.75220	0.0:0.0:0.0:1.0	.	457	Q7RTY1	MOT9_HUMAN	A	457	ENSP00000378757:T457A;ENSP00000378756:T457A	ENSP00000378756:T457A	T	-	1	0	SLC16A9	61082697	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.265000	0.78442	2.057000	0.61298	0.528000	0.53228	ACC		0.398	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048174.2	NM_194298		9	86	0	0	0	1	0	9	86				
PPM1B	5495	broad.mit.edu	37	2	44428821	44428821	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:44428821A>G	ENST00000282412.4	+	2	895	c.483A>G	c.(481-483)caA>caG	p.Q161Q	PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409895.4_Silent_p.Q161Q|PPM1B_ENST00000378551.2_Silent_p.Q161Q|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409432.3_Silent_p.Q161Q	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	161					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGAATGGACAAGTCTGCTTTT	0.438																																						ENST00000378551.2																			0				kidney(4)|large_intestine(3)|lung(7)|skin(2)	16						c.(481-483)caA>caG		protein phosphatase, Mg2+/Mn2+ dependent, 1B							184.0	171.0	176.0					2																	44428821		2203	4300	6503	SO:0001819	synonymous_variant	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44428821A>G	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.483A>G	2.37:g.44428821A>G						PPM1B_ENST00000409432.3_Silent_p.Q161Q|PPM1B_ENST00000409895.4_Silent_p.Q161Q|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000282412.4_Silent_p.Q161Q|PPM1B_ENST00000378540.4_3'UTR	p.Q161Q	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN			2	895	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	161					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Silent	SNP	ENST00000282412.4	37	c.483A>G	CCDS1817.1																																																																																				0.438	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		40	104	0	0	0	1	0	40	104				
SMG6	23293	broad.mit.edu	37	17	2090120	2090120	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:2090120G>A	ENST00000263073.6	-	12	3042	c.2992C>T	c.(2992-2994)Ctg>Ttg	p.L998L	SMG6_ENST00000536871.2_Silent_p.L90L|SMG6_ENST00000354901.4_Silent_p.L90L|SMG6_ENST00000544865.1_Silent_p.L967L	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	998					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGAGAGGACAGCTGAGCTGCA	0.597																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2899-2901)Ctg>Ttg		SMG6 nonsense mediated mRNA decay factor							66.0	52.0	57.0					17																	2090120		2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2090120G>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2992C>T	17.37:g.2090120G>A						SMG6_ENST00000536871.2_Silent_p.L90L|SMG6_ENST00000263073.5_Silent_p.L998L|SMG6_ENST00000354901.4_Silent_p.L90L	p.L967L			Q86US8	EST1A_HUMAN			12	3409	-			998					B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.2899C>T	CCDS11016.1																																																																																				0.597	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			7	35	0	0	0	1	0	7	35				
ADCY4	196883	broad.mit.edu	37	14	24791326	24791326	+	Silent	SNP	G	G	A	rs199565158		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:24791326G>A	ENST00000310677.4	-	21	2645	c.2532C>T	c.(2530-2532)aaC>aaT	p.N844N	ADCY4_ENST00000554068.2_Silent_p.N844N|ADCY4_ENST00000418030.2_Silent_p.N844N	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	844					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CAGGGAGCACGTTCTCCAAGA	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15232	0.0		0.0	False		,,,				2504	0.0					ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2530-2532)aaC>aaT		adenylate cyclase 4							136.0	118.0	124.0					14																	24791326		2203	4300	6503	SO:0001819	synonymous_variant	196883				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|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24791326G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2532C>T	14.37:g.24791326G>A						ADCY4_ENST00000418030.2_Silent_p.N844N|ADCY4_ENST00000554068.2_Silent_p.N844N	p.N844N	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	21	2645	-			844					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.2532C>T	CCDS9627.1																																																																																				0.612	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			5	190	0	0	0	1	0	5	190				
TBX4	9496	broad.mit.edu	37	17	59544957	59544957	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:59544957G>A	ENST00000240335.1	+	4	533	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	TBX4_ENST00000393853.4_Missense_Mutation_p.R163Q	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	163					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CACTGGATGCGGCAGCTGGTC	0.612																																						ENST00000393853.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(487-489)cGg>cAg		T-box 4							48.0	48.0	48.0					17																	59544957		2203	4300	6503	SO:0001583	missense	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59544957G>A	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.488G>A	17.37:g.59544957G>A	ENSP00000240335:p.Arg163Gln					TBX4_ENST00000240335.1_Missense_Mutation_p.R163Q	p.R163Q			P57082	TBX4_HUMAN			5	651	+			163					A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	ENST00000240335.1	37	c.488G>A	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288202	0.95517	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	D;D	0.89875	-2.58;-2.58	5.77	4.78	0.61160	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.85869	0.5797	L	0.46741	1.465	0.80722	D	1	D;D	0.65815	0.995;0.995	B;B	0.42692	0.395;0.395	D	0.85090	0.0951	9	.	.	.	.	15.4374	0.75157	0.0:0.1397:0.8603:0.0	.	163;163	A5PKU7;P57082	.;TBX4_HUMAN	Q	163	ENSP00000377435:R163Q;ENSP00000240335:R163Q	.	R	+	2	0	TBX4	56899739	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.476000	0.97823	1.415000	0.47037	0.650000	0.86243	CGG		0.612	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		27	73	0	0	0	1	0	27	73				
B3GALT1	8708	broad.mit.edu	37	2	168726367	168726367	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:168726367G>A	ENST00000392690.3	+	1	910	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000305861.1_Missense_Mutation_p.R273Q|AC016723.4_ENST00000430546.1_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	273					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTGTGTCTTCGAAAGCTGGGC	0.468																																						ENST00000305861.1																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(817-819)cGa>cAa		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1							93.0	74.0	81.0					2																	168726367		2203	4300	6503	SO:0001583	missense	8708				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:168726367G>A	E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"""Beta 3-glycosyltransferases"""	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.818G>A	2.37:g.168726367G>A	ENSP00000376456:p.Arg273Gln					AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000392690.2_Missense_Mutation_p.R273Q	p.R273Q	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN			2	1169	+			273					D3DPB8|Q53SS2	Missense_Mutation	SNP	ENST00000392690.3	37	c.818G>A	CCDS2227.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136377	0.37728	.	.	ENSG00000172318	ENST00000305861;ENST00000392690	D;D	0.85773	-2.03;-2.03	6.02	5.14	0.70334	.	0.058502	0.64402	D	0.000002	T	0.73281	0.3567	N	0.16098	0.37	0.45806	D	0.998681	B	0.20368	0.044	B	0.21546	0.035	T	0.66941	-0.5796	10	0.12103	T	0.63	-8.0353	15.6994	0.77533	0.0663:0.0:0.9337:0.0	.	273	Q9Y5Z6	B3GT1_HUMAN	Q	273	ENSP00000303740:R273Q;ENSP00000376456:R273Q	ENSP00000303740:R273Q	R	+	2	0	B3GALT1	168434613	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.584000	0.67490	2.865000	0.98341	0.655000	0.94253	CGA		0.468	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255211.2	NM_020981		19	67	0	0	0	1	0	19	67				
ADAD1	132612	broad.mit.edu	37	4	123301398	123301398	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:123301398T>C	ENST00000296513.2	+	3	357		c.e3+2		ADAD1_ENST00000388724.2_Splice_Site|ADAD1_ENST00000388725.2_Splice_Site	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)						multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAGTAACGGGTACGACTTTTT	0.438																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.e3+2		adenosine deaminase domain containing 1 (testis-specific)							99.0	85.0	90.0					4																	123301398		2203	4300	6503	SO:0001630	splice_region_variant	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123301398T>C	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.172+2T>C	4.37:g.123301398T>C						ADAD1_ENST00000388725.2_Splice_Site|ADAD1_ENST00000388724.2_Splice_Site		NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			3	357	+								A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Splice_Site	SNP	ENST00000296513.2	37		CCDS34058.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.179421	0.57800	.	.	ENSG00000164113	ENST00000446706;ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6751	0.62449	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAD1	123520848	1.000000	0.71417	0.984000	0.44739	0.782000	0.44232	4.580000	0.60942	1.928000	0.55862	0.454000	0.30748	.		0.438	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243	Intron	26	62	0	0	0	1	0	26	62				
HERC1	8925	broad.mit.edu	37	15	64067503	64067503	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:64067503A>T	ENST00000443617.2	-	2	407	c.320T>A	c.(319-321)cTg>cAg	p.L107Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	107					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GAGTACAAGCAGTCGTTTTCT	0.478																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(319-321)cTg>cAg		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							61.0	61.0	61.0					15																	64067503		1945	4155	6100	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64067503A>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.320T>A	15.37:g.64067503A>T	ENSP00000390158:p.Leu107Gln						p.L107Q	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			2	407	-			107					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.320T>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.311391	0.81358	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.00523	6.83	5.31	5.31	0.75309	.	0.094486	0.43260	U	0.000587	T	0.01320	0.0043	L	0.61218	1.895	0.58432	D	0.999998	D;D;D	0.61697	0.99;0.98;0.98	P;P;P	0.60345	0.873;0.831;0.831	T	0.70000	-0.4992	10	0.87932	D	0	.	15.2676	0.73675	1.0:0.0:0.0:0.0	.	107;107;107	B4DKS2;C9JUT5;Q15751	.;.;HERC1_HUMAN	Q	107	ENSP00000390158:L107Q	ENSP00000389613:L107Q	L	-	2	0	HERC1	61854556	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.271000	0.95698	2.011000	0.59026	0.459000	0.35465	CTG		0.478	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		14	70	0	0	0	1	0	14	70				
BAI2	576	broad.mit.edu	37	1	32221928	32221928	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:32221928C>T	ENST00000373658.3	-	4	851	c.510G>A	c.(508-510)ccG>ccA	p.P170P	BAI2_ENST00000527361.1_Silent_p.P170P|BAI2_ENST00000257070.4_Silent_p.P170P|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000373655.2_Silent_p.P170P|BAI2_ENST00000398542.1_Silent_p.P158P|BAI2_ENST00000398556.3_Silent_p.P173P|BAI2_ENST00000398538.1_Silent_p.P158P|BAI2_ENST00000398547.1_Silent_p.P158P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	170					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CCAGCAGGCGCGGGGCCTCGG	0.622																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(508-510)ccG>ccA		brain-specific angiogenesis inhibitor 2							26.0	32.0	30.0					1																	32221928		2201	4293	6494	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32221928C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.510G>A	1.37:g.32221928C>T						BAI2_ENST00000398556.3_Silent_p.P173P|BAI2_ENST00000398542.1_Silent_p.P158P|BAI2_ENST00000373655.2_Silent_p.P170P|BAI2_ENST00000398538.1_Silent_p.P158P|BAI2_ENST00000257070.4_Silent_p.P170P|BAI2_ENST00000398547.1_Silent_p.P158P|BAI2_ENST00000527361.1_Silent_p.P170P	p.P170P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	4	851	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	170					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.510G>A	CCDS346.2																																																																																				0.622	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		27	79	0	0	0	1	0	27	79				
FNDC3A	22862	broad.mit.edu	37	13	49712931	49712931	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:49712931T>C	ENST00000492622.2	+	7	1114	c.809T>C	c.(808-810)gTc>gCc	p.V270A	FNDC3A_ENST00000541916.1_Missense_Mutation_p.V270A|FNDC3A_ENST00000398316.3_Missense_Mutation_p.V214A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	270	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TCCAACATTGTCAAACCAGTG	0.229																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(808-810)gTc>gCc		fibronectin type III domain containing 3A							45.0	48.0	47.0					13																	49712931		2197	4275	6472	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49712931T>C	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.809T>C	13.37:g.49712931T>C	ENSP00000417257:p.Val270Ala					FNDC3A_ENST00000398316.3_Missense_Mutation_p.V214A|FNDC3A_ENST00000541916.1_Missense_Mutation_p.V270A	p.V270A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	7	1114	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	270			Fibronectin type-III 1.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.809T>C	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	T	10.01	1.234049	0.22626	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.39406	1.08;1.08;1.08	5.81	-4.27	0.03744	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.336950	0.04794	N	0.432213	T	0.19565	0.0470	N	0.15975	0.35	0.27252	N	0.958863	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.19811	-1.0294	10	0.10111	T	0.7	0.1188	4.4338	0.11540	0.1362:0.5012:0.1396:0.223	.	214;270;270	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	A	270;206;270;214	ENSP00000417257:V270A;ENSP00000441831:V270A;ENSP00000381362:V214A	ENSP00000338579:V206A	V	+	2	0	FNDC3A	48610932	0.988000	0.35896	0.980000	0.43619	0.988000	0.76386	0.071000	0.14594	-0.281000	0.09141	0.533000	0.62120	GTC		0.229	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		7	39	0	0	0	1	0	7	39				
LHFPL2	10184	broad.mit.edu	37	5	77805875	77805875	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:77805875C>T	ENST00000515007.2	-	2	472	c.162G>A	c.(160-162)ccG>ccA	p.P54P	LHFPL2_ENST00000380345.2_Silent_p.P54P			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	54						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGTAGGGCTCCGGGGAgcccc	0.706																																						ENST00000380345.2																			0				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6						c.(160-162)ccG>ccA		lipoma HMGIC fusion partner-like 2							9.0	12.0	11.0					5																	77805875		2170	4243	6413	SO:0001819	synonymous_variant	10184					integral to membrane		g.chr5:77805875C>T	D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685			6588	protein-coding gene	gene with protein product		609718				10329012	Standard	NM_005779		Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.162G>A	5.37:g.77805875C>T						LHFPL2_ENST00000515007.2_Silent_p.P54P	p.P54P	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)	4	837	-		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)	54					B2RMQ6|Q7Z5P0|Q92605	Silent	SNP	ENST00000515007.2	37	c.162G>A	CCDS4042.1																																																																																				0.706	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	NM_005779		9	24	0	0	0	1	0	9	24				
KIAA0430	9665	broad.mit.edu	37	16	15694557	15694557	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:15694557A>G	ENST00000396368.3	-	24	4834	c.4628T>C	c.(4627-4629)gTg>gCg	p.V1543A	KIAA0430_ENST00000547936.1_5'Flank|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000602337.1_Splice_Site_p.V1540A|KIAA0430_ENST00000540441.2_Splice_Site_p.V1378A|KIAA0430_ENST00000551742.1_Splice_Site_p.V1543A|KIAA0430_ENST00000548025.1_Splice_Site_p.V1540A	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1543	HTH OST-type 8. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TATCCAGACCACCTGCACACA	0.458																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.e24-1		KIAA0430							187.0	172.0	177.0					16																	15694557		1949	4149	6098	SO:0001630	splice_region_variant	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15694557A>G	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4627-1T>C	16.37:g.15694557A>G						KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000540441.2_Splice_Site_p.V1378_splice|KIAA0430_ENST00000548025.1_Splice_Site_p.V1540_splice|KIAA0430_ENST00000551742.1_Splice_Site_p.V1543_splice|KIAA0430_ENST00000602337.1_Splice_Site_p.V1540_splice	p.V1543_splice	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			24	4834	-			1542					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Splice_Site	SNP	ENST00000396368.3	37	c.4626_splice	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	A	19.03	3.748705	0.69533	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000548025;ENST00000551742	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	N	0.20986	0.625	0.80722	D	1	B;B;B;B	0.30584	0.035;0.286;0.286;0.043	B;B;B;B	0.24974	0.028;0.057;0.057;0.047	T	0.21415	-1.0246	10	0.56958	D	0.05	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	1542;1540;1539;1542	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	A	1543;1378;1483;1540;1543	ENSP00000379654:V1543A;ENSP00000439819:V1378A;ENSP00000449376:V1540A;ENSP00000450309:V1543A	ENSP00000315718:V1483A	V	-	2	0	KIAA0430	15602058	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.466000	0.90387	2.254000	0.74563	0.533000	0.62120	GTG		0.458	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647	Missense_Mutation	4	178	0	0	0	1	0	4	178				
SLC7A8	23428	broad.mit.edu	37	14	23635670	23635670	+	Silent	SNP	G	G	A	rs374742443		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23635670G>A	ENST00000316902.7	-	2	956	c.231C>T	c.(229-231)atC>atT	p.I77I	SLC7A8_ENST00000469263.1_Silent_p.I77I	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	77					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CAATCCAGACGATGAGAGCAA	0.542																																						ENST00000316902.7																			0				autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24						c.(229-231)atC>atT		solute carrier family 7 (amino acid transporter light chain, L system), member 8	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	G		3,4403	6.2+/-15.9	0,3,2200	222.0	220.0	221.0		231	-3.0	1.0	14		221	0,8600		0,0,4300	no	coding-synonymous	SLC7A8	NM_012244.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		77/536	23635670	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23635670G>A	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.231C>T	14.37:g.23635670G>A						SLC7A8_ENST00000469263.1_Silent_p.I77I	p.I77I	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	2	956	-	all_cancers(95;4.6e-05)		77					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Silent	SNP	ENST00000316902.7	37	c.231C>T	CCDS9590.1																																																																																				0.542	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			91	346	0	0	0	1	0	91	346				
RGS3	5998	broad.mit.edu	37	9	116299133	116299133	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:116299133T>C	ENST00000374140.2	+	20	2181	c.1972T>C	c.(1972-1974)Tgc>Cgc	p.C658R	RGS3_ENST00000462143.1_5'UTR|RGS3_ENST00000374136.1_Missense_Mutation_p.C284R|RGS3_ENST00000343817.5_Missense_Mutation_p.C377R|RGS3_ENST00000394646.3_Missense_Mutation_p.C377R|RGS3_ENST00000350696.5_Missense_Mutation_p.C658R|RGS3_ENST00000317613.6_Missense_Mutation_p.C546R	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	658					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAAGAGAGTGTGCTGGTGCCT	0.582																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(1972-1974)Tgc>Cgc		regulator of G-protein signaling 3							123.0	110.0	115.0					9																	116299133		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116299133T>C	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.1972T>C	9.37:g.116299133T>C	ENSP00000363255:p.Cys658Arg					RGS3_ENST00000343817.5_Missense_Mutation_p.C377R|RGS3_ENST00000317613.6_Missense_Mutation_p.C546R|RGS3_ENST00000462143.1_5'UTR|RGS3_ENST00000350696.5_Missense_Mutation_p.C658R|RGS3_ENST00000394646.3_Missense_Mutation_p.C377R|RGS3_ENST00000374136.1_Missense_Mutation_p.C284R	p.C658R	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			20	2181	+			658					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.1972T>C	CCDS43869.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.0|21.0	4.075132|4.075132	0.76415|0.76415	.|.	.|.	ENSG00000138835|ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646;ENST00000374136|ENST00000496113	T;T;T;T;T|T	0.60797|0.13307	0.64;0.64;1.09;0.16;2.54|2.6	5.68|5.68	5.68|5.68	0.88126|0.88126	Pleckstrin homology-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.29028|0.29028	0.0721|0.0721	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	P;D;D;D;D;D|.	0.89917|.	0.736;0.999;1.0;0.999;0.999;0.999|.	B;D;D;D;D;D|.	0.85130|.	0.205;0.996;0.984;0.965;0.997;0.997|.	T|T	0.01056|0.01056	-1.1466|-1.1466	10|7	0.87932|0.87932	D|D	0|0	.|.	13.3198|13.3198	0.60426|0.60426	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	377;284;377;548;546;658|.	B3KUB2;Q5VXC0;P49796-4;B3KWG8;P49796-5;P49796|.	.;.;.;.;.;RGS3_HUMAN|.	R|A	658;658;546;377;377;284|112	ENSP00000363255:C658R;ENSP00000259406:C658R;ENSP00000312844:C546R;ENSP00000340284:C377R;ENSP00000378141:C377R|ENSP00000418898:V112A	ENSP00000312844:C546R|ENSP00000418898:V112A	C|V	+|+	1|2	0|0	RGS3|RGS3	115338954|115338954	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.611000|5.611000	0.67674|0.67674	2.163000|2.163000	0.67991|0.67991	0.460000|0.460000	0.39030|0.39030	TGC|GTG		0.582	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		8	157	0	0	0	1	0	8	157				
MIR101-1	406893	broad.mit.edu	37	1	65524139	65524139	+	RNA	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:65524139T>C	ENST00000362265.1	-	0	52				MIR3671_ENST00000580455.1_RNA	NR_029516.1				microRNA 101-1																		GTTATCACAGTACTGTACCTT	0.507																																						ENST00000362265.1																			0																				93.0	79.0	83.0					1																	65524139		1568	3582	5150			406893							g.chr1:65524139T>C			1p31.3	2011-09-12		2008-12-18	ENSG00000199135	ENSG00000199135		"""ncRNAs / Micro RNAs"""	31488	non-coding RNA	RNA, micro		612511		MIRN101-1			Standard	NR_029516		Approved	hsa-mir-101-1	uc001dbx.3				1.37:g.65524139T>C								NR_029516.1						0	52	-									RNA	SNP	ENST00000362265.1	37																																																																																						0.507	MIR101-1-201	KNOWN	basic	miRNA	miRNA		NR_029516		3	65	0	0	0	1	0	3	65				
SPTAN1	6709	broad.mit.edu	37	9	131371248	131371248	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:131371248C>T	ENST00000372731.4	+	35	4697	c.4587C>T	c.(4585-4587)gtC>gtT	p.V1529V	SPTAN1_ENST00000358161.5_Silent_p.V1529V|SPTAN1_ENST00000372739.3_Silent_p.V1529V	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1529					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCAATGAGGTCTTGGACAGGT	0.582																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000358161.5																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(4585-4587)gtC>gtT		spectrin, alpha, non-erythrocytic 1							109.0	112.0	111.0					9																	131371248		2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131371248C>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4587C>T	9.37:g.131371248C>T						SPTAN1_ENST00000372731.4_Silent_p.V1529V|SPTAN1_ENST00000372739.3_Silent_p.V1529V	p.V1529V			Q13813	SPTA2_HUMAN			35	4700	+			1529					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.4587C>T	CCDS6905.1																																																																																				0.582	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		5	275	0	0	0	1	0	5	275				
TTC38	55020	broad.mit.edu	37	22	46685777	46685777	+	Missense_Mutation	SNP	G	G	A	rs199616473		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:46685777G>A	ENST00000381031.3	+	13	1373	c.1297G>A	c.(1297-1299)Gtc>Atc	p.V433I	TTC38_ENST00000445282.2_Missense_Mutation_p.V375I	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	433						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						CACCTCCAGCGTCCATAAGAA	0.597													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17734	0.0		0.0	False		,,,				2504	0.0					ENST00000381031.3																			0				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						c.(1297-1299)Gtc>Atc		tetratricopeptide repeat domain 38		G	ILE/VAL	0,4204		0,0,2102	93.0	104.0	100.0		1297	-10.0	0.0	22		100	3,8431		0,3,4214	yes	missense	TTC38	NM_017931.2	29	0,3,6316	AA,AG,GG		0.0356,0.0,0.0237	benign	433/470	46685777	3,12635	2102	4217	6319	SO:0001583	missense	55020						binding	g.chr22:46685777G>A		CCDS43030.1	22q13	2013-01-11			ENSG00000075234	ENSG00000075234		"""Tetratricopeptide (TTC) repeat domain containing"""	26082	protein-coding gene	gene with protein product							Standard	NM_017931		Approved	FLJ20699	uc003bhi.3	Q5R3I4	OTTHUMG00000150494	ENST00000381031.3:c.1297G>A	22.37:g.46685777G>A	ENSP00000370419:p.Val433Ile					TTC38_ENST00000445282.2_Missense_Mutation_p.V375I	p.V433I	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN			13	1373	+			433					Q8WV27|Q9NWP8	Missense_Mutation	SNP	ENST00000381031.3	37	c.1297G>A	CCDS43030.1	.	.	.	.	.	.	.	.	.	.	G	9.700	1.154246	0.21371	0.0	3.56E-4	ENSG00000075234	ENST00000381031;ENST00000445282	T;T	0.41400	1.01;1.0	4.98	-9.96	0.00443	.	2.404880	0.01212	N	0.007879	T	0.25644	0.0624	L	0.44542	1.39	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.13548	-1.0505	10	0.35671	T	0.21	-15.4222	0.3959	0.00418	0.2327:0.1759:0.2321:0.3594	.	375;433	E7ES35;Q5R3I4	.;TTC38_HUMAN	I	433;375	ENSP00000370419:V433I;ENSP00000393960:V375I	ENSP00000370419:V433I	V	+	1	0	TTC38	45064441	0.000000	0.05858	0.000000	0.03702	0.858000	0.48976	-1.593000	0.02096	-1.345000	0.02214	-0.175000	0.13238	GTC		0.597	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931		29	74	0	0	0	1	0	29	74				
ACTL6B	51412	broad.mit.edu	37	7	100244703	100244703	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100244703G>A	ENST00000160382.5	-	10	933	c.827C>T	c.(826-828)gCt>gTt	p.A276V		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	276					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CATTTGTGCAGCCACCCTACC	0.627																																						ENST00000160382.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13						c.(826-828)gCt>gTt		actin-like 6B							76.0	72.0	74.0					7																	100244703		2203	4300	6503	SO:0001583	missense	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100244703G>A	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.827C>T	7.37:g.100244703G>A	ENSP00000160382:p.Ala276Val						p.A276V	NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN			10	933	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		276					A4D2D0|O75421	Missense_Mutation	SNP	ENST00000160382.5	37	c.827C>T	CCDS5702.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421341	0.25639	.	.	ENSG00000077080	ENST00000160382	D	0.94897	-3.55	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	D	0.90188	0.6933	N	0.26042	0.785	0.80722	D	1	B	0.22983	0.078	B	0.22152	0.038	D	0.85726	0.1328	10	0.18710	T	0.47	.	17.9218	0.88969	0.0:0.0:1.0:0.0	.	276	O94805	ACL6B_HUMAN	V	276	ENSP00000160382:A276V	ENSP00000160382:A276V	A	-	2	0	ACTL6B	100082639	1.000000	0.71417	0.993000	0.49108	0.678000	0.39670	9.236000	0.95360	2.837000	0.97791	0.655000	0.94253	GCT		0.627	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		18	56	0	0	0	1	0	18	56				
UBC	7316	broad.mit.edu	37	12	125397539	125397539	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:125397539T>C	ENST00000536769.1	-	1	2355	c.779A>G	c.(778-780)gAc>gGc	p.D260G	MIR5188_ENST00000583467.1_RNA|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.D184G|UBC_ENST00000339647.5_Missense_Mutation_p.D260G|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	260	Ubiquitin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GCCTTCCTTGTCTTGGATCTT	0.517																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(778-780)gAc>gGc		ubiquitin C							264.0	237.0	246.0					12																	125397539		2203	4300	6503	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397539T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.779A>G	12.37:g.125397539T>C	ENSP00000441543:p.Asp260Gly					UBC_ENST00000546120.1_Missense_Mutation_p.D184G|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.D260G	p.D260G			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2355	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		260			Ubiquitin-like 4.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.779A>G	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	-	13.23	2.173852	0.38413	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.74632	-0.86;-0.86;-0.86	2.93	2.93	0.34026	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.000000	0.49305	U	0.000142	T	0.75939	0.3918	L	0.53561	1.675	0.58432	D	0.999999	P;P;P	0.50066	0.695;0.931;0.576	P;P;P	0.53450	0.726;0.706;0.597	T	0.77595	-0.2529	10	0.87932	D	0	.	9.4121	0.38498	0.0:0.0:0.0:1.0	.	349;260;260	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	G	260;260;184;260;184	ENSP00000441543:D260G;ENSP00000344818:D260G;ENSP00000438394:D184G	ENSP00000344818:D260G	D	-	2	0	UBC	123963492	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	4.743000	0.62110	1.379000	0.46325	0.444000	0.29173	GAC		0.517	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		55	356	0	0	0	1	0	55	356				
PBRM1	55193	broad.mit.edu	37	3	52637555	52637555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52637555G>A	ENST00000296302.7	-	17	2762	c.2761C>T	c.(2761-2763)Cga>Tga	p.R921*	PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R921*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R921*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R936*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R889*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R936*			Q86U86	PB1_HUMAN	polybromo 1	921					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R921*(2)|p.R889*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTTCTTCTCGTTTTAGTTTA	0.343			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		3	Substitution - Nonsense(3)	p.R921*(2)|p.R889*(1)	kidney(3)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(2665-2667)Cga>Tga		polybromo 1							75.0	73.0	74.0					3																	52637555		2202	4300	6502	SO:0001587	stop_gained	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52637555G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2761C>T	3.37:g.52637555G>A	ENSP00000296302:p.Arg921*					PBRM1_ENST00000296302.7_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R936*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R936*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R921*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R921*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R921*	p.R889*			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	16	2667	-			921					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37	c.2665C>T		.	.	.	.	.	.	.	.	.	.	G	40	7.972597	0.98588	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.57	1.62	0.23740	.	0.056697	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6643	0.85248	0.0:0.0:0.3779:0.6221	.	.	.	.	X	889;921;921;921;921;921;936;936;921;880	.	ENSP00000296302:R921X	R	-	1	2	PBRM1	52612595	0.999000	0.42202	0.982000	0.44146	0.992000	0.81027	0.618000	0.24373	0.065000	0.16485	-0.158000	0.13435	CGA		0.343	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		8	19	0	0	0	1	0	8	19				
GAL3ST3	89792	broad.mit.edu	37	11	65810721	65810721	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:65810721G>A	ENST00000312006.4	-	3	834	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R185C	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	185					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						TCGGGCGCGCGCAGGAAGGCC	0.682																																						ENST00000312006.4																			0				kidney(1)|lung(9)|ovary(2)|skin(2)	14						c.(553-555)Cgc>Tgc		galactose-3-O-sulfotransferase 3							34.0	37.0	36.0					11																	65810721		2201	4293	6494	SO:0001583	missense	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65810721G>A	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.553C>T	11.37:g.65810721G>A	ENSP00000308591:p.Arg185Cys					GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R185C	p.R185C	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN			3	834	-			185					Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.553C>T	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.090241	0.55968	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	D;D	0.99793	-6.77;-6.77	4.65	2.74	0.32292	.	0.653724	0.15781	N	0.244904	D	0.98858	0.9614	L	0.60455	1.87	0.42114	D	0.991397	P	0.42296	0.775	B	0.34242	0.178	D	0.97174	0.9846	10	0.66056	D	0.02	-13.6963	11.7098	0.51618	0.0:0.0:0.6793:0.3207	.	185	Q96A11	G3ST3_HUMAN	C	185	ENSP00000308591:R185C;ENSP00000434829:R185C	ENSP00000308591:R185C	R	-	1	0	GAL3ST3	65567297	0.854000	0.29725	1.000000	0.80357	0.932000	0.56968	1.289000	0.33307	0.490000	0.27771	-0.314000	0.08810	CGC		0.682	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		23	55	0	0	0	1	0	23	55				
ATP6V0A1	535	broad.mit.edu	37	17	40639195	40639195	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:40639195A>G	ENST00000343619.4	+	10	956	c.833A>G	c.(832-834)cAc>cGc	p.H278R	ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.H278R|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.H235R|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.H285R|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.H235R|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.H278R	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	278					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		ACGGAGGATCACCGCCAGAGG	0.493																																						ENST00000343619.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(832-834)cAc>cGc		ATPase, H+ transporting, lysosomal V0 subunit a1							90.0	85.0	86.0					17																	40639195		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40639195A>G	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.833A>G	17.37:g.40639195A>G	ENSP00000342951:p.His278Arg					ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.H278R|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.H278R|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.H235R|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.H235R|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.H285R	p.H278R	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	10	956	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	278					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.833A>G	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.864309	0.91511	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	5.85	5.85	0.93711	.	0.088941	0.85682	D	0.000000	D	0.90964	0.7159	L	0.56396	1.775	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.993;0.996;1.0;0.996	D;D;D;D;D	0.91635	0.99;0.961;0.979;0.999;0.925	D	0.91689	0.5364	10	0.72032	D	0.01	-25.0552	16.2205	0.82255	1.0:0.0:0.0:0.0	.	235;235;285;278;278	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	R	278;278;278;285;235	ENSP00000342951:H278R;ENSP00000444676:H278R;ENSP00000377415:H278R;ENSP00000264649:H285R;ENSP00000443991:H235R	ENSP00000264649:H285R	H	+	2	0	ATP6V0A1	37892721	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.328000	0.96403	2.234000	0.73211	0.528000	0.53228	CAC		0.493	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		43	105	0	0	0	1	0	43	105				
CTBP2	1488	broad.mit.edu	37	10	126715969	126715969	+	Intron	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:126715969T>C	ENST00000337195.5	-	3	458				CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000309035.6_Silent_p.V120V|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GCTCTTTGGGTACCCTAGCAG	0.612																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(358-360)gtA>gtG		C-terminal binding protein 2							62.0	62.0	62.0					10																	126715969		2203	4300	6503	SO:0001627	intron_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126715969T>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.58+11596A>G	10.37:g.126715969T>C						CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000411419.2_Intron	p.V120V	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	1	490	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	0					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.360A>G	CCDS7643.1																																																																																				0.612	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		9	107	0	0	0	1	0	9	107				
TNC	3371	broad.mit.edu	37	9	117822164	117822164	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:117822164A>G	ENST00000350763.4	-	14	4562	c.4151T>C	c.(4150-4152)gTc>gCc	p.V1384A	TNC_ENST00000535648.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.V1293A|TNC_ENST00000345230.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.V1384A|TNC_ENST00000542877.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1384	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CACTTTGTTGACCTCCTGCAC	0.582																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(4150-4152)gTc>gCc		tenascin C							82.0	65.0	71.0					9																	117822164		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117822164A>G		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4151T>C	9.37:g.117822164A>G	ENSP00000265131:p.Val1384Ala					TNC_ENST00000341037.4_Missense_Mutation_p.V1293A|TNC_ENST00000340094.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.V1384A|TNC_ENST00000345230.3_Intron|TNC_ENST00000346706.3_Intron	p.V1384A	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			14	4562	-			1384			Fibronectin type-III 9.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.4151T>C	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	A	2.908	-0.225942	0.06022	.	.	ENSG00000041982	ENST00000350763;ENST00000341037;ENST00000423613	T;T;T	0.57273	0.41;0.41;0.41	5.42	3.58	0.41010	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.349083	0.26183	N	0.025842	T	0.15435	0.0372	N	0.00368	-1.59	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.04013	0.0;0.001	T	0.33214	-0.9877	10	0.02654	T	1	.	11.2721	0.49144	0.1508:0.0:0.8492:0.0	.	1384;1384	E9PC84;P24821	.;TENA_HUMAN	A	1384;1293;1384	ENSP00000265131:V1384A;ENSP00000339553:V1293A;ENSP00000411406:V1384A	ENSP00000339553:V1293A	V	-	2	0	TNC	116861985	0.998000	0.40836	1.000000	0.80357	0.879000	0.50718	2.256000	0.43231	0.643000	0.30638	-0.479000	0.04858	GTC		0.582	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		43	66	0	0	0	1	0	43	66				
ZZZ3	26009	broad.mit.edu	37	1	78098605	78098605	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:78098605T>C	ENST00000370801.3	-	5	910	c.435A>G	c.(433-435)gaA>gaG	p.E145E	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'Flank	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	145					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TACTCCTCTGTTCTACTGACT	0.368																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(433-435)gaA>gaG		zinc finger, ZZ-type containing 3							143.0	146.0	145.0					1																	78098605		2203	4300	6503	SO:0001819	synonymous_variant	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098605T>C	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.435A>G	1.37:g.78098605T>C						ZZZ3_ENST00000370798.1_Intron	p.E145E	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			5	910	-			145					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Silent	SNP	ENST00000370801.3	37	c.435A>G	CCDS677.1																																																																																				0.368	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		23	183	0	0	0	1	0	23	183				
SGOL2	151246	broad.mit.edu	37	2	201437985	201437985	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:201437985T>C	ENST00000357799.4	+	7	3014	c.2916T>C	c.(2914-2916)agT>agC	p.S972S		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	972					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAAGGAAAGTTGTGATCAAA	0.279																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(2914-2916)agT>agC		shugoshin-like 2 (S. pombe)							41.0	41.0	41.0					2																	201437985		1822	4067	5889	SO:0001819	synonymous_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437985T>C	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2916T>C	2.37:g.201437985T>C							p.S972S	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	3014	+			972					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Silent	SNP	ENST00000357799.4	37	c.2916T>C	CCDS42796.1																																																																																				0.279	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		16	58	0	0	0	1	0	16	58				
KLRK1	22914	broad.mit.edu	37	12	10531151	10531151	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:10531151A>G	ENST00000240618.6	-	6	570		c.e6+1		KLRK1_ENST00000540818.1_Splice_Site|KLRC4-KLRK1_ENST00000539300.1_Splice_Site|RP11-277P12.20_ENST00000500682.1_RNA	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1						cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TAAATACTCAACCTGGTCCTC	0.378																																						ENST00000240618.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						c.e6+1		killer cell lectin-like receptor subfamily K, member 1							77.0	80.0	79.0					12																	10531151		2203	4300	6503	SO:0001630	splice_region_variant	22914				natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding	g.chr12:10531151A>G	AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"""Killer cell lectin-like receptors"", ""CD molecules"""	18788	protein-coding gene	gene with protein product		611817	"""DNA segment on chromosome 12 (unique) 2489 expressed sequence"""	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.429+1T>C	12.37:g.10531151A>G						KLRC4-KLRK1_ENST00000539300.1_Splice_Site|KLRK1_ENST00000540818.1_Splice_Site|RP11-277P12.20_ENST00000500682.1_RNA		NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN			6	570	-								A8K7K5|A8K7P4|Q9NR41	Splice_Site	SNP	ENST00000240618.6	37		CCDS8623.1	.	.	.	.	.	.	.	.	.	.	A	6.566	0.472680	0.12461	.	.	ENSG00000213809	ENST00000240618;ENST00000540818	.	.	.	5.66	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7763	0.34765	0.9142:0.0:0.0858:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KLRK1	10422418	0.994000	0.37717	0.831000	0.32960	0.002000	0.02628	3.995000	0.57001	1.076000	0.40961	-0.290000	0.09829	.		0.378	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400269.1	NM_007360	Intron	10	62	0	0	0	1	0	10	62				
OR2T12	127064	broad.mit.edu	37	1	248458064	248458064	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:248458064A>G	ENST00000317996.1	-	1	816	c.817T>C	c.(817-819)Tca>Cca	p.S273P		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TAGAAGGCTGACACAACCTTA	0.488																																						ENST00000317996.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(817-819)Tca>Cca		olfactory receptor, family 2, subfamily T, member 12							150.0	148.0	149.0					1																	248458064		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458064A>G	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.817T>C	1.37:g.248458064A>G	ENSP00000324583:p.Ser273Pro						p.S273P	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	816	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		273						Missense_Mutation	SNP	ENST00000317996.1	37	c.817T>C	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	a	10.95	1.494526	0.26774	.	.	ENSG00000177201	ENST00000317996	T	0.00274	8.35	1.71	1.71	0.24356	GPCR, rhodopsin-like superfamily (1);	0.349695	0.16265	U	0.222067	T	0.00724	0.0024	M	0.92833	3.35	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.37009	-0.9724	10	0.87932	D	0	.	6.4795	0.22055	0.7522:0.2478:0.0:0.0	.	273	Q8NG77	O2T12_HUMAN	P	273	ENSP00000324583:S273P	ENSP00000324583:S273P	S	-	1	0	OR2T12	246524687	0.000000	0.05858	0.020000	0.16555	0.031000	0.12232	-0.651000	0.05372	0.629000	0.30376	0.342000	0.21767	TCA		0.488	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		33	150	0	0	0	1	0	33	150				
TNRC6A	27327	broad.mit.edu	37	16	24835045	24835045	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:24835045G>A	ENST00000395799.3	+	25	5935	c.5806G>A	c.(5806-5808)Gac>Aac	p.D1936N	TNRC6A_ENST00000315183.7_Missense_Mutation_p.D1887N|TNRC6A_ENST00000432286.2_Missense_Mutation_p.D414N	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1936	Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AAGCAGCAGCGACCCCCGAGG	0.567																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(5806-5808)Gac>Aac		trinucleotide repeat containing 6A							71.0	78.0	75.0					16																	24835045		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24835045G>A	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5806G>A	16.37:g.24835045G>A	ENSP00000379144:p.Asp1936Asn					TNRC6A_ENST00000315183.7_Missense_Mutation_p.D1887N|TNRC6A_ENST00000432286.2_Missense_Mutation_p.D414N	p.D1936N	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	25	5935	+			1936			Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.5806G>A	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	20.1|20.1	3.939045|3.939045	0.73557|0.73557	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286|ENST00000450465	T;T|.	0.18016|.	2.32;2.24|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.108201|.	0.64402|.	D|.	0.000007|.	T|T	0.73225|0.73225	0.3560|0.3560	L|L	0.57536|0.57536	1.79|1.79	0.58432|0.58432	D|D	0.999996|0.999996	D;D|.	0.63046|.	0.964;0.992|.	P;B|.	0.49637|.	0.617;0.41|.	T|T	0.69495|0.69495	-0.5130|-0.5130	10|5	0.48119|.	T|.	0.1|.	-8.1226|-8.1226	19.7099|19.7099	0.96094|0.96094	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1887;1936|.	Q8NDV7-6;Q8NDV7|.	.;TNR6A_HUMAN|.	N|Q	1887;1936;414|826	ENSP00000326900:D1887N;ENSP00000379144:D1936N|.	ENSP00000326900:D1887N|.	D|R	+|+	1|2	0|0	TNRC6A|TNRC6A	24742546|24742546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.681000|9.681000	0.98653|0.98653	2.638000|2.638000	0.89438|0.89438	0.651000|0.651000	0.88453|0.88453	GAC|CGA		0.567	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		53	157	0	0	0	1	0	53	157				
LRRC75A	388341	broad.mit.edu	37	17	16347048	16347048	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:16347048T>C	ENST00000470794.1	-	4	916	c.889A>G	c.(889-891)Acc>Gcc	p.T297A	C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|FAM211A_ENST00000409083.3_3'UTR|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA	NM_001113567.2	NP_001107039.1														lung(1)	1						TCCAGGATGGTGGGTAGGTGG	0.667																																						ENST00000470794.1																			0				lung(1)	1						c.(889-891)Acc>Gcc		family with sequence similarity 211, member A							50.0	56.0	54.0					17																	16347048		692	1591	2283	SO:0001583	missense	388341							g.chr17:16347048T>C																												ENST00000470794.1:c.889A>G	17.37:g.16347048T>C	ENSP00000419502:p.Thr297Ala					C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|FAM211A_ENST00000409083.3_3'UTR	p.T297A	NM_001113567.2	NP_001107039.1	Q8NAA5	CQ076_HUMAN			4	916	-			297						Missense_Mutation	SNP	ENST00000470794.1	37	c.889A>G	CCDS45620.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.105007	0.77096	.	.	ENSG00000181350	ENST00000470794	T	0.55413	0.52	5.34	5.34	0.76211	.	.	.	.	.	T	0.66446	0.2790	L	0.52011	1.625	0.46654	D	0.999142	D	0.71674	0.998	D	0.80764	0.994	T	0.69363	-0.5165	9	0.87932	D	0	.	13.5724	0.61853	0.0:0.0:0.0:1.0	.	297	Q8NAA5	CQ076_HUMAN	A	297	ENSP00000419502:T297A	ENSP00000419502:T297A	T	-	1	0	C17orf76	16287773	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	7.608000	0.82898	2.164000	0.68074	0.459000	0.35465	ACC		0.667	FAM211A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130463.3			10	37	0	0	0	1	0	10	37				
NOVA1	4857	broad.mit.edu	37	14	26917503	26917503	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:26917503T>C	ENST00000539517.2	-	5	1503	c.1186A>G	c.(1186-1188)Aat>Gat	p.N396D	NOVA1_ENST00000267422.7_Missense_Mutation_p.N274D|NOVA1_ENST00000465357.2_Missense_Mutation_p.N372D	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	399	Ala-rich.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AAATATCCATTGGTTGCAGCA	0.537																																						ENST00000539517.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1186-1188)Aat>Gat		neuro-oncological ventral antigen 1							45.0	47.0	46.0					14																	26917503		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917503T>C	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1186A>G	14.37:g.26917503T>C	ENSP00000438875:p.Asn396Asp					NOVA1_ENST00000267422.7_Missense_Mutation_p.N274D|NOVA1_ENST00000465357.2_Missense_Mutation_p.N372D	p.N396D	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1503	-			399			Ala-rich.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.1186A>G	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	T	6.283	0.420300	0.11928	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422	T;T;T	0.34667	1.4;1.39;1.35	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	L	0.36672	1.1	0.80722	D	1	P;P;D	0.56035	0.88;0.956;0.974	P;D;D	0.70487	0.899;0.931;0.969	T	0.27020	-1.0086	10	0.13470	T	0.59	-0.6118	16.3593	0.83251	0.0:0.0:0.0:1.0	.	399;372;396	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	D	372;396;274	ENSP00000447391:N372D;ENSP00000438875:N396D;ENSP00000267422:N274D	ENSP00000267422:N274D	N	-	1	0	NOVA1	25987343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.267000	0.75376	0.383000	0.25322	AAT		0.537	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		14	45	0	0	0	1	0	14	45				
MTR	4548	broad.mit.edu	37	1	236959026	236959026	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:236959026T>C	ENST00000366577.5	+	1	417	c.23T>C	c.(22-24)cTg>cCg	p.L8P	MTR_ENST00000535889.1_Missense_Mutation_p.L8P|MTR_ENST00000418145.2_Missense_Mutation_p.C136R	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	8					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CTCCAAGACCTGTCGCAACCC	0.627																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(22-24)cTg>cCg		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						100.0	77.0	85.0					1																	236959026		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:236959026T>C	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.23T>C	1.37:g.236959026T>C	ENSP00000355536:p.Leu8Pro					MTR_ENST00000418145.2_Missense_Mutation_p.C136R|MTR_ENST00000535889.1_Missense_Mutation_p.L8P	p.L8P	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	1	417	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	8					A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.23T>C	CCDS1614.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.98|15.98	2.993432|2.993432	0.54041|0.54041	.|.	.|.	ENSG00000116984|ENSG00000116984	ENST00000418145|ENST00000417743;ENST00000366577;ENST00000535889	.|T;T	.|0.69306	.|-0.38;-0.39	3.79|3.79	-1.36|-1.36	0.09085|0.09085	.|.	.|1.264240	.|0.06071	.|N	.|0.660046	T|T	0.51075|0.51075	0.1653|0.1653	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.41431|0.41431	-0.9509|-0.9509	6|10	0.16420|0.66056	T|D	0.52|0.02	1.8317|1.8317	1.5252|1.5252	0.02523|0.02523	0.1514:0.1091:0.321:0.4185|0.1514:0.1091:0.321:0.4185	.|.	.|8;8;8	.|B7ZLW8;B7ZLW7;Q99707	.|.;.;METH_HUMAN	R|P	136|8	.|ENSP00000355536:L8P;ENSP00000441845:L8P	ENSP00000402255:C136R|ENSP00000355536:L8P	C|L	+|+	1|2	0|0	MTR|MTR	235025649|235025649	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.993000|0.993000	0.82548|0.82548	-1.624000|-1.624000	0.02038|0.02038	-0.259000|-0.259000	0.09432|0.09432	0.519000|0.519000	0.50382|0.50382	TGT|CTG		0.627	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		20	70	0	0	0	1	0	20	70				
DNAH11	8701	broad.mit.edu	37	7	21721179	21721179	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:21721179A>G	ENST00000409508.3	+	31	5375	c.5344A>G	c.(5344-5346)Aca>Gca	p.T1782A	DNAH11_ENST00000328843.6_Missense_Mutation_p.T1787A	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1787	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCAGCTGAATACACTGATTAC	0.393									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(5359-5361)Aca>Gca		dynein, axonemal, heavy chain 11							90.0	81.0	83.0					7																	21721179		1849	4111	5960	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21721179A>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5344A>G	7.37:g.21721179A>G	ENSP00000475939:p.Thr1782Ala					DNAH11_ENST00000409508.3_Missense_Mutation_p.T1782A	p.T1787A			Q96DT5	DYH11_HUMAN			31	5390	+			1787			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.5359A>G		.	.	.	.	.	.	.	.	.	.	A	3.625	-0.076653	0.07184	.	.	ENSG00000105877	ENST00000328843	T	0.56611	0.45	5.39	1.65	0.23941	.	0.463714	0.24274	N	0.039970	T	0.22589	0.0545	.	.	.	0.26055	N	0.981434	B	0.02656	0.0	B	0.04013	0.001	T	0.14699	-1.0463	9	0.07482	T	0.82	.	2.8997	0.05701	0.485:0.0:0.3311:0.1839	.	1787	Q96DT5	DYH11_HUMAN	A	1787	ENSP00000330671:T1787A	ENSP00000330671:T1787A	T	+	1	0	DNAH11	21687704	0.004000	0.15560	0.678000	0.29963	0.724000	0.41520	0.109000	0.15417	0.396000	0.25283	0.477000	0.44152	ACA		0.393	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		3	33	0	0	0	1	0	3	33				
ZNF395	55893	broad.mit.edu	37	8	28218619	28218619	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:28218619C>T	ENST00000344423.5	-	2	154	c.23G>A	c.(22-24)cGc>cAc	p.R8H	ZNF395_ENST00000523095.1_Missense_Mutation_p.R8H|ZNF395_ENST00000523202.1_Missense_Mutation_p.R8H	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		CTTTCCAAGGCGTCGGGACAG	0.677																																						ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(22-24)cGc>cAc		zinc finger protein 395							29.0	32.0	31.0					8																	28218619		2169	4258	6427	SO:0001583	missense	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28218619C>T	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.23G>A	8.37:g.28218619C>T	ENSP00000340494:p.Arg8His					ZNF395_ENST00000523202.1_Missense_Mutation_p.R8H|ZNF395_ENST00000523095.1_Missense_Mutation_p.R8H	p.R8H	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	2	154	-		Ovarian(32;2.06e-05)	8					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	37	c.23G>A	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096911	0.76870	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095;ENST00000521912;ENST00000520290;ENST00000521185;ENST00000522795;ENST00000517459	T;T;T	0.59364	0.27;0.27;0.27	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	T	0.75332	0.3835	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78109	-0.2332	10	0.87932	D	0	-28.4951	16.4714	0.84112	0.0:1.0:0.0:0.0	.	8	Q9H8N7	ZN395_HUMAN	H	8	ENSP00000340494:R8H;ENSP00000429640:R8H;ENSP00000428452:R8H	ENSP00000340494:R8H	R	-	2	0	ZNF395	28274538	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.616000	0.61197	2.560000	0.86352	0.655000	0.94253	CGC		0.677	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			34	60	0	0	0	1	0	34	60				
MDC1	9656	broad.mit.edu	37	6	30675572	30675572	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:30675572G>A	ENST00000376406.3	-	8	3431	c.2784C>T	c.(2782-2784)tgC>tgT	p.C928C	MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	928				Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CGGCTGGATCGCACTCTCTGT	0.507								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(2782-2784)tgC>tgT	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							150.0	169.0	163.0					6																	30675572		1510	2708	4218	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30675572G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.2784C>T	6.37:g.30675572G>A						MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA	p.C928C	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			8	3431	-			928	Missing (in Ref. 2; CAH18685).				A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.2784C>T	CCDS34384.1																																																																																				0.507	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		36	121	0	0	0	1	0	36	121				
THAP9	79725	broad.mit.edu	37	4	83839815	83839815	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:83839815T>C	ENST00000302236.5	+	5	2501	c.2450T>C	c.(2449-2451)gTg>gCg	p.V817A	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	817					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TTTGTAGATGTGAATAAGCAT	0.308																																						ENST00000302236.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33						c.(2449-2451)gTg>gCg		THAP domain containing 9							66.0	68.0	67.0					4																	83839815		2203	4299	6502	SO:0001583	missense	79725						DNA binding|metal ion binding	g.chr4:83839815T>C	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.2450T>C	4.37:g.83839815T>C	ENSP00000305533:p.Val817Ala					LIN54_ENST00000505905.1_Intron	p.V817A	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN			5	2501	+		Hepatocellular(203;0.114)	817					B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	c.2450T>C	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	T	3.804	-0.041031	0.07452	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.90563	-2.69	4.44	3.24	0.37175	.	1.740080	0.03765	N	0.258728	D	0.83083	0.5177	N	0.08118	0	0.20975	N	0.999819	B	0.13145	0.007	B	0.10450	0.005	T	0.71527	-0.4566	10	0.72032	D	0.01	-5.0134	9.6108	0.39661	0.0:0.0:0.1843:0.8157	.	817	Q9H5L6	THAP9_HUMAN	A	817	ENSP00000305533:V817A	ENSP00000305533:V817A	V	+	2	0	THAP9	84058839	0.033000	0.19621	0.895000	0.35142	0.044000	0.14063	2.192000	0.42649	1.005000	0.39183	0.533000	0.62120	GTG		0.308	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		25	54	0	0	0	1	0	25	54				
IGSF22	283284	broad.mit.edu	37	11	18743175	18743175	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18743175T>C	ENST00000513874.1	-	4	424	c.285A>G	c.(283-285)aaA>aaG	p.K95K	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	95	Ig-like 1.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						AGATGTGGGGTTTGGCGTTCC	0.597											OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000513874.1																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(283-285)aaA>aaG		immunoglobulin superfamily, member 22							107.0	107.0	107.0					11																	18743175		1987	4154	6141	SO:0001819	synonymous_variant	283284							g.chr11:18743175T>C	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.285A>G	11.37:g.18743175T>C			OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	90	RP11-1081L13.4_ENST00000527285.1_RNA	p.K95K	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN			4	424	-			95			Ig-like 1.		A6NNA0|D6RGV7	Silent	SNP	ENST00000513874.1	37	c.285A>G	CCDS41625.2																																																																																				0.597	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		15	136	0	0	0	1	0	15	136				
ADAMTS9	56999	broad.mit.edu	37	3	64524953	64524953	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:64524953C>T	ENST00000498707.1	-	37	5881	c.5539G>A	c.(5539-5541)Gca>Aca	p.A1847T	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A1819T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1847	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTTGTCCTTGCAAACTGTAAG	0.552																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(5539-5541)Gca>Aca		ADAM metallopeptidase with thrombospondin type 1 motif, 9							108.0	95.0	99.0					3																	64524953		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64524953C>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5539G>A	3.37:g.64524953C>T	ENSP00000418735:p.Ala1847Thr					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A1819T	p.A1847T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	37	5881	-		Lung NSC(201;0.00682)	1847			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5539G>A	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375632	0.82682	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.20463	2.07;2.07	5.62	5.62	0.85841	Peptidase M12B, GON-ADAMTSs (2);	0.061152	0.64402	D	0.000005	T	0.41511	0.1162	L	0.56280	1.765	0.80722	D	1	D;P	0.59357	0.985;0.948	D;P	0.65773	0.938;0.902	T	0.12578	-1.0542	10	0.72032	D	0.01	.	16.0041	0.80344	0.1349:0.865:0.0:0.0	.	1819;1847	B7ZVX9;Q9P2N4	.;ATS9_HUMAN	T	1819;1847	ENSP00000295903:A1819T;ENSP00000418735:A1847T	ENSP00000295903:A1819T	A	-	1	0	ADAMTS9	64499993	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.849000	0.39318	2.646000	0.89796	0.585000	0.79938	GCA		0.552	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			15	52	0	0	0	1	0	15	52				
MFSD2B	388931	broad.mit.edu	37	2	24247074	24247074	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:24247074A>G	ENST00000406420.3	+	13	1439	c.1423A>G	c.(1423-1425)Atc>Gtc	p.I475V	MFSD2B_ENST00000338315.4_Missense_Mutation_p.I475V	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	475					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TGGGCTCTGCATCCTCATGGT	0.642																																						ENST00000338315.4																			0				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(1423-1425)Atc>Gtc		major facilitator superfamily domain containing 2B							51.0	58.0	56.0					2																	24247074		2094	4221	6315	SO:0001583	missense	388931				transport	integral to membrane		g.chr2:24247074A>G		CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.1423A>G	2.37:g.24247074A>G	ENSP00000385527:p.Ile475Val					MFSD2B_ENST00000406420.3_Missense_Mutation_p.I475V	p.I475V			A6NFX1	MFS2B_HUMAN			13	1423	+			475					B5MC32	Missense_Mutation	SNP	ENST00000406420.3	37	c.1423A>G	CCDS46228.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.840261	0.51057	.	.	ENSG00000205639	ENST00000406420;ENST00000338315	D;D	0.86097	-2.07;-2.07	4.93	2.57	0.30868	Major facilitator superfamily domain, general substrate transporter (1);	0.061489	0.64402	U	0.000010	T	0.77922	0.4203	L	0.46885	1.475	0.44611	D	0.997583	B	0.31655	0.334	B	0.38225	0.268	T	0.66408	-0.5931	10	0.07175	T	0.84	-22.5877	7.9976	0.30277	0.8284:0.0:0.1716:0.0	.	475	A6NFX1	MFS2B_HUMAN	V	475	ENSP00000385527:I475V;ENSP00000342501:I475V	ENSP00000342501:I475V	I	+	1	0	MFSD2B	24100578	0.990000	0.36364	1.000000	0.80357	0.703000	0.40648	2.258000	0.43249	0.878000	0.35920	0.374000	0.22700	ATC		0.642	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000324307.1	NM_001080473		6	33	0	0	0	1	0	6	33				
PI3	5266	broad.mit.edu	37	20	43804535	43804535	+	Missense_Mutation	SNP	G	G	A	rs372966339		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:43804535G>A	ENST00000243924.3	+	2	160	c.113G>A	c.(112-114)cGt>cAt	p.R38H		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	38	2 X tandem repeats of SVP-1 like motif.				copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GTCAAAGGCCGTGTTCCATTC	0.443																																						ENST00000243924.3																			0				large_intestine(1)|lung(5)|skin(1)	7						c.(112-114)cGt>cAt		peptidase inhibitor 3, skin-derived		G	HIS/ARG	0,4406		0,0,2203	114.0	104.0	108.0		113	-5.3	0.0	20		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	PI3	NM_002638.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	38/118	43804535	1,13005	2203	4300	6503	SO:0001583	missense	5266				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	g.chr20:43804535G>A	D13156	CCDS13344.1	20q13.12	2013-01-21	2008-10-03		ENSG00000124102	ENSG00000124102		"""WAP four-disulfide core domain containing"""	8947	protein-coding gene	gene with protein product	"""skin-derived antileukoproteinase"", ""trappin-2"""	182257	"""protease inhibitor 3, skin-derived (SKALP)"""			8287685, 12206714	Standard	NM_002638		Approved	ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin	uc002xng.3	P19957	OTTHUMG00000032567	ENST00000243924.3:c.113G>A	20.37:g.43804535G>A	ENSP00000243924:p.Arg38His						p.R38H	NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN			2	160	+		Myeloproliferative disorder(115;0.0122)	38			2 X tandem repeats of SVP-1 like motif.		E1P618|Q6FG74	Missense_Mutation	SNP	ENST00000243924.3	37	c.113G>A	CCDS13344.1	.	.	.	.	.	.	.	.	.	.	G	3.726	-0.056477	0.07362	0.0	1.16E-4	ENSG00000124102	ENST00000243924	T	0.42900	0.96	3.7	-5.26	0.02772	.	1.462380	0.04446	N	0.371799	T	0.17831	0.0428	N	0.05306	-0.075	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.15321	-1.0441	10	0.17369	T	0.5	.	5.7883	0.18347	0.3564:0.1824:0.4612:0.0	.	38	P19957	ELAF_HUMAN	H	38	ENSP00000243924:R38H	ENSP00000243924:R38H	R	+	2	0	PI3	43237949	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.301000	0.02749	-0.706000	0.05028	-1.650000	0.00758	CGT		0.443	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079418.3	NM_002638		42	130	0	0	0	1	0	42	130				
CEP164	22897	broad.mit.edu	37	11	117222548	117222548	+	Silent	SNP	C	C	T	rs149281923		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:117222548C>T	ENST00000278935.3	+	5	384	c.237C>T	c.(235-237)aaC>aaT	p.N79N		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	79	Interaction with ATRIP.|WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACTTCGCCAACGGGCAGTCTA	0.478																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(235-237)aaC>aaT		centrosomal protein 164kDa		C		1,4401	2.1+/-5.4	0,1,2200	121.0	108.0	112.0		237	-5.5	0.9	11	dbSNP_134	112	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	CEP164	NM_014956.4		0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154		79/1461	117222548	2,12992	2201	4296	6497	SO:0001819	synonymous_variant	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117222548C>T	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.237C>T	11.37:g.117222548C>T							p.N79N	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	5	384	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	79			Interaction with ATRIP.|WW.		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	c.237C>T	CCDS31683.1																																																																																				0.478	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		26	102	0	0	0	1	0	26	102				
FZD10	11211	broad.mit.edu	37	12	130647821	130647821	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:130647821C>T	ENST00000229030.4	+	1	818	c.334C>T	c.(334-336)Cag>Tag	p.Q112*	FZD10_ENST00000539839.1_Missense_Mutation_p.A79V|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	112	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CATGTGCGAGCAGGCCCGGCT	0.632																																						ENST00000229030.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(334-336)Cag>Tag		frizzled family receptor 10							75.0	73.0	74.0					12																	130647821		2203	4300	6503	SO:0001587	stop_gained	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130647821C>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.334C>T	12.37:g.130647821C>T	ENSP00000229030:p.Gln112*					FZD10_ENST00000539839.1_Missense_Mutation_p.A79V	p.Q112*			Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	818	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		112			FZ.			Nonsense_Mutation	SNP	ENST00000229030.4	37	c.334C>T	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.691902|8.691902	0.98916|0.98916	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000539839|ENST00000229030	.|.	.|.	.|.	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	T|.	0.76637|.	0.4015|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79482|.	-0.1785|.	5|.	0.87932|0.56958	D|D	0|0.05	.|.	17.8579|17.8579	0.88771|0.88771	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	79|112	.|.	ENSP00000438460:A79V|ENSP00000229030:Q112X	A|Q	+|+	2|1	0|0	FZD10|FZD10	129213774|129213774	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.550000|5.550000	0.67268|0.67268	2.202000|2.202000	0.70862|0.70862	0.561000|0.561000	0.74099|0.74099	GCA|CAG		0.632	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				33	207	0	0	0	1	0	33	207				
MKI67	4288	broad.mit.edu	37	10	129907004	129907004	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:129907004C>A	ENST00000368654.3	-	13	3475	c.3100G>T	c.(3100-3102)Gtg>Ttg	p.V1034L	MKI67_ENST00000368653.3_Missense_Mutation_p.V674L|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1034	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)				TCTTCTTTCACACCTACTTTC	0.507																																						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.(3100-3102)Gtg>Ttg		marker of proliferation Ki-67							416.0	402.0	407.0					10																	129907004		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129907004C>A	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.3100G>T	10.37:g.129907004C>A	ENSP00000357643:p.Val1034Leu					MKI67_ENST00000368653.3_Missense_Mutation_p.V674L	p.V1034L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3475	-		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)	1034			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3100G>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352897	0.24512	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.04194	3.68;3.68	3.02	0.451	0.16629	.	.	.	.	.	T	0.05640	0.0148	L	0.41236	1.265	0.09310	N	1	B;P;P	0.43169	0.395;0.607;0.8	B;B;P	0.46718	0.069;0.12;0.525	T	0.38134	-0.9675	9	0.26408	T	0.33	.	4.1964	0.10445	0.0:0.5863:0.2135:0.2002	.	1033;674;1034	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	L	1034;674;1033	ENSP00000357643:V1034L;ENSP00000357642:V674L	ENSP00000357642:V674L	V	-	1	0	MKI67	129796994	0.023000	0.18921	0.000000	0.03702	0.031000	0.12232	-0.455000	0.06762	0.112000	0.17975	-0.305000	0.09177	GTG		0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		11	672	1	0	0.00010058	1	0.000102188	11	672				
FMN2	56776	broad.mit.edu	37	1	240370643	240370643	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:240370643C>G	ENST00000319653.9	+	5	2761	c.2531C>G	c.(2530-2532)tCt>tGt	p.S844C		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	844	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACGAACACTCTGTTTCCTCT	0.562																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2530-2532)tCt>tGt		formin 2							111.0	106.0	107.0					1																	240370643		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370643C>G	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2531C>G	1.37:g.240370643C>G	ENSP00000318884:p.Ser844Cys						p.S844C	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2761	+	Ovarian(103;0.127)	all_cancers(173;0.013)	844			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2531C>G	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	5.096	0.203414	0.09704	.	.	ENSG00000155816	ENST00000319653	T	0.35789	1.29	4.09	2.18	0.27775	Actin-binding FH2/DRF autoregulatory (1);	0.758933	0.11961	N	0.512711	T	0.26340	0.0643	L	0.32530	0.975	0.27548	N	0.950577	P	0.52463	0.953	B	0.43916	0.436	T	0.08953	-1.0697	9	.	.	.	.	5.098	0.14745	0.179:0.6482:0.0:0.1728	.	844	Q9NZ56	FMN2_HUMAN	C	844	ENSP00000318884:S844C	.	S	+	2	0	FMN2	238437266	0.000000	0.05858	0.324000	0.25361	0.504000	0.33889	0.282000	0.18829	1.048000	0.40298	0.555000	0.69702	TCT		0.562	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		32	113	0	0	0	1	0	32	113				
EN1	2019	broad.mit.edu	37	2	119600542	119600542	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:119600542G>A	ENST00000295206.6	-	2	1661	c.1151C>T	c.(1150-1152)aCg>aTg	p.T384M	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	384					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GTCCTGGACCGTGGTGGTGGA	0.687																																						ENST00000295206.6																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						c.(1150-1152)aCg>aTg		engrailed homeobox 1							45.0	41.0	42.0					2																	119600542		2203	4300	6503	SO:0001583	missense	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119600542G>A	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.1151C>T	2.37:g.119600542G>A	ENSP00000295206:p.Thr384Met						p.T384M	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN			2	1661	-			384					Q4ZG44	Missense_Mutation	SNP	ENST00000295206.6	37	c.1151C>T	CCDS2123.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753971	0.89843	.	.	ENSG00000163064	ENST00000295206	D	0.91631	-2.88	5.13	5.13	0.70059	Homeobox engrailed, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90390	0.6992	L	0.59436	1.845	0.47065	D	0.999305	P	0.43519	0.809	B	0.37780	0.258	D	0.91670	0.5349	10	0.62326	D	0.03	-25.0911	18.1781	0.89768	0.0:0.0:1.0:0.0	.	384	Q05925	HME1_HUMAN	M	384	ENSP00000295206:T384M	ENSP00000295206:T384M	T	-	2	0	EN1	119317012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.694000	0.84235	2.374000	0.81015	0.555000	0.69702	ACG		0.687	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3			13	56	0	0	0	1	0	13	56				
MAP1A	4130	broad.mit.edu	37	15	43815131	43815131	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:43815131A>G	ENST00000300231.5	+	4	1910	c.1460A>G	c.(1459-1461)gAc>gGc	p.D487G	MAP1A_ENST00000399453.1_Missense_Mutation_p.D487G|MAP1A_ENST00000382031.1_Missense_Mutation_p.D725G			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	487	9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic).				microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GTCAAAATAGACAGGAGCCGT	0.542																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(2173-2175)gAc>gGc		microtubule-associated protein 1A	Estramustine(DB01196)						32.0	32.0	32.0					15																	43815131		1914	4115	6029	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43815131A>G	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1460A>G	15.37:g.43815131A>G	ENSP00000300231:p.Asp487Gly					MAP1A_ENST00000300231.5_Missense_Mutation_p.D487G|MAP1A_ENST00000399453.1_Missense_Mutation_p.D487G	p.D725G			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	2205	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	487					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.2174A>G	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	A	13.41	2.228304	0.39399	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.47869	0.83;0.83;0.83	5.39	5.39	0.77823	.	0.000000	0.34133	N	0.004233	T	0.59459	0.2195	M	0.68317	2.08	0.39020	D	0.959739	D	0.53312	0.959	P	0.52957	0.714	T	0.66460	-0.5918	10	0.66056	D	0.02	-13.0171	15.253	0.73561	1.0:0.0:0.0:0.0	.	487	P78559	MAP1A_HUMAN	G	725;487;487;487	ENSP00000371462:D725G;ENSP00000382380:D487G;ENSP00000300231:D487G	ENSP00000300231:D487G	D	+	2	0	MAP1A	41602423	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.920000	0.63390	2.263000	0.75096	0.533000	0.62120	GAC		0.542	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		5	33	0	0	0	1	0	5	33				
STOX2	56977	broad.mit.edu	37	4	184930607	184930607	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:184930607G>A	ENST00000308497.4	+	3	2051	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	STOX2_ENST00000438269.1_Missense_Mutation_p.V206M	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	206					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CAGAGAAGACGTGCACAGCAC	0.592																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(616-618)Gtg>Atg		storkhead box 2							76.0	80.0	79.0					4																	184930607		2129	4230	6359	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184930607G>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.616G>A	4.37:g.184930607G>A	ENSP00000311257:p.Val206Met					STOX2_ENST00000438269.1_Missense_Mutation_p.V206M	p.V206M	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	2051	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	206					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.616G>A	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.319745	0.01320	.	.	ENSG00000173320	ENST00000308497;ENST00000438269;ENST00000512520	T;T;T	0.76968	-0.03;-1.03;-1.06	5.55	-10.6	0.00265	.	0.717946	0.15216	N	0.274195	T	0.40015	0.1100	N	0.02539	-0.55	0.23546	N	0.997441	B	0.09022	0.002	B	0.04013	0.001	T	0.45877	-0.9231	10	0.12103	T	0.63	-2.1699	9.0545	0.36397	0.3635:0.2013:0.4351:0.0	.	206	Q9P2F5	STOX2_HUMAN	M	206;206;144	ENSP00000311257:V206M;ENSP00000390127:V206M;ENSP00000425388:V144M	ENSP00000311257:V206M	V	+	1	0	STOX2	185167601	0.023000	0.18921	0.219000	0.23793	0.698000	0.40448	-0.268000	0.08607	-1.984000	0.00985	-1.267000	0.01435	GTG		0.592	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		28	92	0	0	0	1	0	28	92				
GSG2	83903	broad.mit.edu	37	17	3629040	3629040	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:3629040A>G	ENST00000325418.4	+	1	1830	c.1811A>G	c.(1810-1812)gAa>gGa	p.E604G	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	604	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										ATTGTGCTGGAATTTGAGTTT	0.473																																						ENST00000325418.4																			0											c.(1810-1812)gAa>gGa		germ cell associated 2 (haspin)							110.0	108.0	109.0					17																	3629040		2203	4300	6503	SO:0001583	missense	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3629040A>G	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1811A>G	17.37:g.3629040A>G	ENSP00000325290:p.Glu604Gly					ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	p.E604G	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	1830	+			604			Protein kinase.		Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.1811A>G	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.667345	0.67814	.	.	ENSG00000177602	ENST00000325418	T	0.73047	-0.71	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.86822	0.6025	M	0.92317	3.295	0.54753	D	0.999988	D	0.89917	1.0	D	0.85130	0.997	D	0.89722	0.3920	10	0.87932	D	0	-22.0654	12.8971	0.58106	1.0:0.0:0.0:0.0	.	604	Q8TF76	HASP_HUMAN	G	604	ENSP00000325290:E604G	ENSP00000325290:E604G	E	+	2	0	GSG2	3575789	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.824000	0.75288	2.139000	0.66308	0.533000	0.62120	GAA		0.473	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		49	105	0	0	0	1	0	49	105				
AHCTF1	25909	broad.mit.edu	37	1	247014460	247014460	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:247014460T>C	ENST00000391829.2	-	33	4971	c.4848A>G	c.(4846-4848)aaA>aaG	p.K1616K	AHCTF1_ENST00000326225.3_Silent_p.K1625K|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Silent_p.K1651K			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1616	Disordered. {ECO:0000250}.|Mediates transcriptional activity. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGTTAGCTGCTTTAGGTAACA	0.403																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(4951-4953)aaA>aaG		AT hook containing transcription factor 1							71.0	67.0	68.0					1																	247014460		2203	4298	6501	SO:0001819	synonymous_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247014460T>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4848A>G	1.37:g.247014460T>C						AHCTF1_ENST00000326225.3_Silent_p.K1625K|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Silent_p.K1616K	p.K1651K			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		33	5089	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1616			Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37	c.4953A>G																																																																																					0.403	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		23	81	0	0	0	1	0	23	81				
OR5T2	219464	broad.mit.edu	37	11	55999741	55999741	+	Silent	SNP	C	C	T	rs201143815		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:55999741C>T	ENST00000313264.4	-	1	996	c.921G>A	c.(919-921)tcG>tcA	p.S307S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S307S(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGTCATGGTCCGAAGCATAGC	0.408																																						ENST00000313264.4																			1	Substitution - coding silent(1)	p.S307S(1)	prostate(1)	endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(919-921)tcG>tcA		olfactory receptor, family 5, subfamily T, member 2							196.0	172.0	180.0					11																	55999741		2201	4296	6497	SO:0001819	synonymous_variant	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55999741C>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.921G>A	11.37:g.55999741C>T							p.S307S	NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN			1	996	-	Esophageal squamous(21;0.00448)		307					B9EGX5|Q6IFC8	Silent	SNP	ENST00000313264.4	37	c.921G>A	CCDS31523.1																																																																																				0.408	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		6	191	0	0	0	1	0	6	191				
CFAP69	79846	broad.mit.edu	37	7	89927085	89927085	+	Missense_Mutation	SNP	C	C	T	rs201312556		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:89927085C>T	ENST00000389297.4	+	16	2049	c.1798C>T	c.(1798-1800)Ccc>Tcc	p.P600S	C7orf63_ENST00000497910.1_Missense_Mutation_p.P582S|C7orf63_ENST00000316089.8_Missense_Mutation_p.P600S	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		600										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GGGATGTTATCCCTCAGAGGA	0.289																																						ENST00000389297.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(1798-1800)Ccc>Tcc		chromosome 7 open reading frame 63							194.0	175.0	181.0					7																	89927085		1810	4074	5884	SO:0001583	missense	79846						binding	g.chr7:89927085C>T																												ENST00000389297.4:c.1798C>T	7.37:g.89927085C>T	ENSP00000373948:p.Pro600Ser					C7orf63_ENST00000316089.8_Missense_Mutation_p.P600S|C7orf63_ENST00000497910.1_Missense_Mutation_p.P582S	p.P600S	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			16	2049	+			600					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.1798C>T	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	C	0.110	-1.140281	0.01728	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170;ENST00000449577	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.72	-4.81	0.03180	Armadillo-type fold (1);	1.141170	0.06310	N	0.702489	T	0.13927	0.0337	N	0.03324	-0.35	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.23119	-1.0197	10	0.07644	T	0.81	4.1602	4.0162	0.09646	0.1246:0.2756:0.0833:0.5164	.	582;600;600	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	S	600;600;582;483;183	ENSP00000373948:P600S;ENSP00000321753:P600S;ENSP00000419549:P582S;ENSP00000392365:P483S;ENSP00000391571:P183S	ENSP00000321753:P600S	P	+	1	0	C7orf63	89765021	0.000000	0.05858	0.031000	0.17742	0.736000	0.42039	-1.277000	0.02812	-0.739000	0.04809	-0.145000	0.13849	CCC		0.289	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			14	66	0	0	0	1	0	14	66				
YY1	7528	broad.mit.edu	37	14	100706061	100706061	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:100706061C>T	ENST00000262238.4	+	1	740	c.480C>T	c.(478-480)ggC>ggT	p.G160G	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	160	Gly/Ser-rich.|Interaction with the SMAD1/SMAD4 complex.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				gcaagagcggcggcggcggct	0.716																																						ENST00000262238.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11						c.(478-480)ggC>ggT		YY1 transcription factor							8.0	10.0	10.0					14																	100706061		2005	3973	5978	SO:0001819	synonymous_variant	7528				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr14:100706061C>T	BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"""INO80 complex subunits"", ""Zinc fingers, C2H2-type"""	12856	protein-coding gene	gene with protein product	"""INO80 complex subunit S"", ""Yin and Yang 1 protein"""	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.480C>T	14.37:g.100706061C>T							p.G160G	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN			1	740	+		Melanoma(154;0.152)	160			Gly/Ser-rich.		Q14935	Silent	SNP	ENST00000262238.4	37	c.480C>T	CCDS9957.1																																																																																				0.716	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318277.1	NM_003403		7	18	0	0	0	1	0	7	18				
HYAL2	8692	broad.mit.edu	37	3	50355698	50355698	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:50355698C>T	ENST00000447092.1	-	3	3576	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q	HYAL2_ENST00000357750.4_Silent_p.Q428Q|HYAL2_ENST00000442581.1_Silent_p.Q428Q|HYAL2_ENST00000395139.3_Silent_p.Q428Q|TUSC2_ENST00000462137.1_5'Flank			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	428	EGF-like.				carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCAAGTAGCACTGGCAGCGGA	0.647																																						ENST00000447092.1																			0				breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7						c.(1282-1284)caG>caA		hyaluronoglucosaminidase 2	Hyaluronidase(DB00070)						59.0	59.0	59.0					3																	50355698		2203	4300	6503	SO:0001819	synonymous_variant	8692					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity	g.chr3:50355698C>T	AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.1284G>A	3.37:g.50355698C>T						HYAL2_ENST00000357750.4_Silent_p.Q428Q|HYAL2_ENST00000395139.3_Silent_p.Q428Q|HYAL2_ENST00000442581.1_Silent_p.Q428Q	p.Q428Q			Q12891	HYAL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	3576	-			428			EGF-like.		B3KRZ2|O15177|Q9BW29	Silent	SNP	ENST00000447092.1	37	c.1284G>A	CCDS2818.1																																																																																				0.647	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1	NM_003773		18	63	0	0	0	1	0	18	63				
MYO5B	4645	broad.mit.edu	37	18	47429119	47429119	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:47429119C>T	ENST00000285039.7	-	21	2955	c.2656G>A	c.(2656-2658)Gca>Aca	p.A886T	MYO5B_ENST00000324581.6_Missense_Mutation_p.A27T	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	886	Arg-rich.|IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ACAATGGCTGCATCCCGCAGC	0.627																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(2656-2658)Gca>Aca		myosin VB							36.0	40.0	39.0					18																	47429119		2024	4176	6200	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47429119C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2656G>A	18.37:g.47429119C>T	ENSP00000285039:p.Ala886Thr					MYO5B_ENST00000324581.6_Missense_Mutation_p.A27T	p.A886T	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	21	2955	-			886			Arg-rich.|IQ 5.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.2656G>A	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592402	0.66219	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.46819	0.86;0.86	5.63	5.63	0.86233	.	0.058323	0.64402	D	0.000002	T	0.77751	0.4177	M	0.93898	3.47	0.58432	D	0.999999	B;D	0.89917	0.357;1.0	B;D	0.97110	0.222;1.0	T	0.79928	-0.1596	10	0.40728	T	0.16	.	19.6675	0.95898	0.0:1.0:0.0:0.0	.	886;27	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	T	886;27	ENSP00000285039:A886T;ENSP00000315531:A27T	ENSP00000285039:A886T	A	-	1	0	MYO5B	45683117	1.000000	0.71417	0.209000	0.23619	0.142000	0.21351	4.550000	0.60733	2.826000	0.97356	0.655000	0.94253	GCA		0.627	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			22	46	0	0	0	1	0	22	46				
BDKRB2	624	broad.mit.edu	37	14	96707261	96707261	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:96707261A>G	ENST00000306005.3	+	3	792	c.596A>G	c.(595-597)aAg>aGg	p.K199R	BDKRB2_ENST00000539359.1_Missense_Mutation_p.K172R|BDKRB2_ENST00000542454.2_Missense_Mutation_p.K172R|BDKRB2_ENST00000554311.1_Missense_Mutation_p.K199R|RP11-404P21.8_ENST00000553811.1_Intron	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	199					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	CGGACCATGAAGGAGTACAGC	0.602																																						ENST00000542454.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24						c.(514-516)aAg>aGg		bradykinin receptor B2							116.0	95.0	102.0					14																	96707261		2203	4300	6503	SO:0001583	missense	624				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	g.chr14:96707261A>G	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.596A>G	14.37:g.96707261A>G	ENSP00000307713:p.Lys199Arg					BDKRB2_ENST00000539359.1_Missense_Mutation_p.K172R|BDKRB2_ENST00000554311.1_Missense_Mutation_p.K199R|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Missense_Mutation_p.K199R	p.K172R			P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	3	3603	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	199						Missense_Mutation	SNP	ENST00000306005.3	37	c.515A>G	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	A	3.444	-0.113374	0.06881	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	4.72	-9.44	0.00603	GPCR, rhodopsin-like superfamily (1);	1.409140	0.03963	N	0.290389	T	0.53834	0.1821	N	0.17800	0.525	0.09310	N	1	B	0.12013	0.005	B	0.17979	0.02	T	0.51926	-0.8643	10	0.46703	T	0.11	-3.7791	13.1197	0.59318	0.2223:0.1812:0.5965:0.0	.	199	P30411	BKRB2_HUMAN	R	172;199;199;172	ENSP00000439459:K172R;ENSP00000450482:K199R;ENSP00000307713:K199R;ENSP00000438376:K172R	ENSP00000307713:K199R	K	+	2	0	BDKRB2	95777014	0.000000	0.05858	0.000000	0.03702	0.237000	0.25408	-3.255000	0.00538	-2.893000	0.00314	-0.441000	0.05720	AAG		0.602	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			25	74	0	0	0	1	0	25	74				
TAP2	6891	broad.mit.edu	37	6	32797232	32797232	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:32797232C>T	ENST00000452392.2	-	11	2050	c.1877G>A	c.(1876-1878)cGg>cAg	p.R626Q	TAP2_ENST00000374899.4_Missense_Mutation_p.R626Q|TAP2_ENST00000374897.2_Missense_Mutation_p.R626Q|TAP2_ENST00000485701.1_5'Flank			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	GATGAGGACCCGCGGGTCTCG	0.617																																						ENST00000374897.2																			0											c.(1876-1878)cGg>cAg		transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)							51.0	52.0	52.0					6																	32797232		2203	4300	6503	SO:0001583	missense	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32797232C>T	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1877G>A	6.37:g.32797232C>T	ENSP00000391806:p.Arg626Gln					TAP2_ENST00000374899.4_Missense_Mutation_p.R626Q|TAP2_ENST00000452392.2_Missense_Mutation_p.R626Q	p.R626Q	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN			11	2008	-			626			ABC transporter.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000452392.2	37	c.1877G>A		.	.	.	.	.	.	.	.	.	.	C	8.763	0.924151	0.18056	.	.	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.93604	-3.25;-3.25;-3.25	5.47	0.225	0.15325	ATPase, AAA+ type, core (1);ABC transporter-like (2);	1.119080	0.06904	N	0.806498	T	0.76543	0.4002	L	0.49640	1.575	0.28162	N	0.928952	P;D;D;D	0.58620	0.762;0.983;0.983;0.983	B;B;B;B	0.36289	0.156;0.221;0.221;0.221	T	0.65162	-0.6235	9	0.06236	T	0.91	-21.8527	8.7013	0.34327	0.0:0.4731:0.0:0.5269	.	626;627;626;626	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	Q	626	ENSP00000364034:R626Q;ENSP00000364032:R626Q;ENSP00000391806:R626Q	ENSP00000364032:R626Q	R	-	2	0	XXbac-BPG246D15.9;TAP2	32905210	0.000000	0.05858	0.014000	0.15608	0.040000	0.13550	0.081000	0.14823	-0.035000	0.13691	-0.224000	0.12420	CGG		0.617	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544		5	19	0	0	0	1	0	5	19				
SLC35D3	340146	broad.mit.edu	37	6	137245154	137245154	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:137245154T>C	ENST00000331858.4	+	2	736	c.571T>C	c.(571-573)Tac>Cac	p.Y191H		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	191					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CACCGCGCAGTACGTCATCGC	0.682																																						ENST00000331858.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13						c.(571-573)Tac>Cac		solute carrier family 35, member D3							40.0	30.0	33.0					6																	137245154		2201	4300	6501	SO:0001583	missense	340146				carbohydrate transport	integral to membrane		g.chr6:137245154T>C		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.571T>C	6.37:g.137245154T>C	ENSP00000333591:p.Tyr191His						p.Y191H	NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	2	736	+	Colorectal(23;0.24)		191					B4DI58|Q5QNZ6|Q6NX71	Missense_Mutation	SNP	ENST00000331858.4	37	c.571T>C	CCDS34544.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041299	0.75732	.	.	ENSG00000182747	ENST00000331858	T	0.63096	-0.02	5.67	5.67	0.87782	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	T	0.68137	0.2968	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71381	-0.4610	10	0.56958	D	0.05	-9.3387	15.9193	0.79547	0.0:0.0:0.0:1.0	.	191	Q5M8T2	S35D3_HUMAN	H	191	ENSP00000333591:Y191H	ENSP00000333591:Y191H	Y	+	1	0	SLC35D3	137286847	1.000000	0.71417	0.998000	0.56505	0.802000	0.45316	7.991000	0.88244	2.176000	0.68965	0.454000	0.30748	TAC		0.682	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		3	23	0	0	0	1	0	3	23				
INHBB	3625	broad.mit.edu	37	2	121106804	121106804	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:121106804G>A	ENST00000295228.3	+	2	624	c.578G>A	c.(577-579)aGc>aAc	p.S193N		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	193					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GAGAAGGGCAGCCGGCGGAAG	0.592																																						ENST00000295228.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15						c.(577-579)aGc>aAc		inhibin, beta B							65.0	65.0	65.0					2																	121106804		2203	4300	6503	SO:0001583	missense	3625				activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	g.chr2:121106804G>A		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.578G>A	2.37:g.121106804G>A	ENSP00000295228:p.Ser193Asn						p.S193N	NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN			2	624	+		Prostate(154;0.122)	193					Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	c.578G>A	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	G	2.933	-0.220591	0.06061	.	.	ENSG00000163083	ENST00000295228	T	0.64991	-0.13	4.94	1.83	0.25207	Transforming growth factor-beta, N-terminal (1);	0.578092	0.16904	N	0.194768	T	0.55369	0.1916	L	0.60455	1.87	0.24018	N	0.996155	B	0.12013	0.005	B	0.12837	0.008	T	0.52682	-0.8543	10	0.52906	T	0.07	-3.723	9.8015	0.40766	0.0798:0.3111:0.609:0.0	.	193	P09529	INHBB_HUMAN	N	193	ENSP00000295228:S193N	ENSP00000295228:S193N	S	+	2	0	INHBB	120823274	0.284000	0.24287	0.998000	0.56505	0.989000	0.77384	0.130000	0.15850	0.703000	0.31848	-0.140000	0.14226	AGC		0.592	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			29	89	0	0	0	1	0	29	89				
RNF41	10193	broad.mit.edu	37	12	56601481	56601481	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56601481T>C	ENST00000345093.4	-	6	920	c.551A>G	c.(550-552)aAc>aGc	p.N184S	RNF41_ENST00000394013.2_Missense_Mutation_p.N113S|RNF41_ENST00000552244.1_Missense_Mutation_p.N184S|RNF41_ENST00000552656.1_Missense_Mutation_p.N184S	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	184					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						AAGGTTGGGGTTGACACTGCG	0.488																																						ENST00000345093.4																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						c.(550-552)aAc>aGc		ring finger protein 41							305.0	257.0	273.0					12																	56601481		2203	4300	6503	SO:0001583	missense	10193				apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:56601481T>C	AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"""RING-type (C3HC4) zinc fingers"""	18401	protein-coding gene	gene with protein product			"""ring finger protein 41"""				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.551A>G	12.37:g.56601481T>C	ENSP00000342755:p.Asn184Ser					RNF41_ENST00000552656.1_Missense_Mutation_p.N184S|RNF41_ENST00000394013.2_Missense_Mutation_p.N113S|RNF41_ENST00000552244.1_Missense_Mutation_p.N184S	p.N184S	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN			6	920	-			184					A6NFW0|B2RBT8|O75598	Missense_Mutation	SNP	ENST00000345093.4	37	c.551A>G	CCDS8909.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.423587	0.43020	.	.	ENSG00000181852	ENST00000345093;ENST00000394013;ENST00000448057;ENST00000552656;ENST00000551711;ENST00000552244;ENST00000549038	T;T;T;T	0.09350	3.02;3.02;2.99;3.09	5.85	3.48	0.39840	USP8 interacting (1);	0.039884	0.85682	N	0.000000	T	0.08582	0.0213	L	0.38953	1.18	0.54753	D	0.999983	B;B	0.28439	0.073;0.212	B;B	0.28991	0.07;0.097	T	0.27297	-1.0078	10	0.32370	T	0.25	.	7.2704	0.26254	0.13:0.071:0.0:0.799	.	171;184	B4E353;Q9H4P4	.;RNF41_HUMAN	S	184;113;171;184;113;184;184	ENSP00000342755:N184S;ENSP00000447303:N184S;ENSP00000448187:N184S;ENSP00000446595:N184S	ENSP00000342755:N184S	N	-	2	0	RNF41	54887748	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.147000	0.58078	0.556000	0.29098	-0.336000	0.08194	AAC		0.488	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408525.1	NM_005785		4	335	0	0	0	1	0	4	335				
RAD50	10111	broad.mit.edu	37	5	131940675	131940675	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:131940675T>C	ENST00000265335.6	+	16	3089	c.2702T>C	c.(2701-2703)tTg>tCg	p.L901S	RAD50_ENST00000378823.3_Missense_Mutation_p.L762S			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	901					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTCAGTCTTTGTACAGAGAG	0.318								Homologous recombination																														ENST00000378823.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2284-2286)tTg>tCg	Homologous recombination	RAD50 homolog (S. cerevisiae)							53.0	51.0	52.0					5																	131940675		2203	4300	6503	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131940675T>C	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.2702T>C	5.37:g.131940675T>C	ENSP00000265335:p.Leu901Ser					RAD50_ENST00000265335.6_Missense_Mutation_p.L901S	p.L762S	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	3103	+		all_cancers(142;0.0368)|Breast(839;0.198)	901					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.2285T>C	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.862319	0.71949	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.30448	1.53;1.53	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000005	T	0.37758	0.1015	M	0.64997	1.995	0.80722	D	1	P	0.50819	0.939	P	0.47118	0.538	T	0.21999	-1.0229	10	0.37606	T	0.19	-5.579	14.0422	0.64684	0.0:0.0:0.0:1.0	.	901	Q92878	RAD50_HUMAN	S	762;901	ENSP00000368100:L762S;ENSP00000265335:L901S	ENSP00000265335:L901S	L	+	2	0	RAD50	131968574	0.998000	0.40836	0.857000	0.33713	0.978000	0.69477	7.651000	0.83577	1.770000	0.52166	0.455000	0.32223	TTG		0.318	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		15	26	0	0	0	1	0	15	26				
SLC47A1	55244	broad.mit.edu	37	17	19470408	19470408	+	Splice_Site	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:19470408G>A	ENST00000270570.4	+	14	1262		c.e14-1		RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000436810.2_Splice_Site|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000571335.1_Splice_Site|SLC47A1_ENST00000457293.1_Splice_Site|SLC47A1_ENST00000395585.1_Splice_Site	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1						organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	TCTGCCTGCAGTGCACGAGTG	0.517																																						ENST00000270570.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e14-1		solute carrier family 47 (multidrug and toxin extrusion), member 1							302.0	253.0	270.0					17																	19470408		2203	4300	6503	SO:0001630	splice_region_variant	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19470408G>A		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"""Solute carriers"""	25588	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 1"""	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1177-1G>A	17.37:g.19470408G>A						RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000436810.2_Splice_Site|SLC47A1_ENST00000395585.1_Splice_Site|SLC47A1_ENST00000571335.1_Splice_Site|SLC47A1_ENST00000457293.1_Splice_Site		NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN			14	1262	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)							Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Splice_Site	SNP	ENST00000270570.4	37		CCDS11209.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325247	0.24080	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0341	0.86470	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC47A1	19411000	1.000000	0.71417	0.988000	0.46212	0.071000	0.16799	5.537000	0.67186	2.366000	0.80165	0.655000	0.94253	.		0.517	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242	Intron	22	323	0	0	0	1	0	22	323				
HERC1	8925	broad.mit.edu	37	15	64067489	64067489	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:64067489G>A	ENST00000443617.2	-	2	421	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	112					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TAAAAGACACGCTGGAGTACA	0.473																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(334-336)Cgt>Tgt		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							70.0	70.0	70.0					15																	64067489		1957	4155	6112	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64067489G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.334C>T	15.37:g.64067489G>A	ENSP00000390158:p.Arg112Cys						p.R112C	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			2	421	-			112					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.334C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658765	0.67586	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.00520	6.85	5.41	5.41	0.78517	.	0.000000	0.64402	U	0.000001	T	0.01558	0.0050	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.982;0.982	T	0.65067	-0.6258	10	0.87932	D	0	.	14.0893	0.64980	0.0:0.0:0.8495:0.1505	.	112;112;112	B4DKS2;C9JUT5;Q15751	.;.;HERC1_HUMAN	C	112	ENSP00000390158:R112C	ENSP00000389613:R112C	R	-	1	0	HERC1	61854542	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.736000	0.55052	2.543000	0.85770	0.561000	0.74099	CGT		0.473	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		37	58	0	0	0	1	0	37	58				
GRM7	2917	broad.mit.edu	37	3	7620598	7620598	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:7620598A>T	ENST00000357716.4	+	8	2279	c.2005A>T	c.(2005-2007)Agt>Tgt	p.S669C	GRM7_ENST00000486284.1_Missense_Mutation_p.S669C|GRM7_ENST00000389336.4_Missense_Mutation_p.S669C|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.S669C|GRM7_ENST00000403881.1_Missense_Mutation_p.S669C	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	669					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TATGTGCATCAGTTATGCAGC	0.448																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(2005-2007)Agt>Tgt		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						111.0	100.0	104.0					3																	7620598		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620598A>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2005A>T	3.37:g.7620598A>T	ENSP00000350348:p.Ser669Cys					GRM7_ENST00000389336.4_Missense_Mutation_p.S669C|GRM7_ENST00000402647.2_Missense_Mutation_p.S669C|GRM7_ENST00000403881.1_Missense_Mutation_p.S669C|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Missense_Mutation_p.S669C	p.S669C	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			8	2279	+			669					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.2005A>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.366038	0.41902	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08	6.17	6.17	0.99709	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87394	0.6166	L	0.28054	0.825	0.58432	D	0.999999	B;D;D;D;B	0.89917	0.003;0.999;1.0;0.999;0.007	B;D;D;D;B	0.87578	0.028;0.995;0.998;0.995;0.017	T	0.82454	-0.0449	10	0.02654	T	1	.	15.6462	0.77055	1.0:0.0:0.0:0.0	.	669;669;424;669;669	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	C	669	ENSP00000350348:S669C;ENSP00000417536:S669C;ENSP00000373987:S669C;ENSP00000385664:S669C;ENSP00000384585:S669C	ENSP00000350348:S669C	S	+	1	0	GRM7	7595598	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	AGT		0.448	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		25	80	0	0	0	1	0	25	80				
DHFRL1	200895	broad.mit.edu	37	3	93780281	93780281	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:93780281C>T	ENST00000394221.2	-	2	524	c.75G>A	c.(73-75)agG>agA	p.R25R	DHFRL1_ENST00000314636.2_Silent_p.R25R|NSUN3_ENST00000314622.4_5'Flank|DHFRL1_ENST00000481631.1_5'UTR	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	25	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						TGAGCGGCGGCCTGGGCAGGT	0.502																																						ENST00000394221.2																			0				kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						c.(73-75)agG>agA		dihydrofolate reductase-like 1							87.0	93.0	91.0					3																	93780281		2193	4293	6486	SO:0001819	synonymous_variant	200895				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding	g.chr3:93780281C>T	AL832912	CCDS2926.1	3q11.2	2005-08-16	2005-02-07		ENSG00000178700	ENSG00000178700			27309	protein-coding gene	gene with protein product			"""dihydrofolate reductase pseudogene 4"""	DHFRP4		12477932	Standard	NM_001195643		Approved	FLJ16119	uc003drj.3	Q86XF0	OTTHUMG00000159014	ENST00000394221.2:c.75G>A	3.37:g.93780281C>T						DHFRL1_ENST00000481631.1_5'UTR|DHFRL1_ENST00000314636.2_Silent_p.R25R	p.R25R	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN			2	524	-			25			DHFR.		D3DN30|Q6P4I9	Silent	SNP	ENST00000394221.2	37	c.75G>A	CCDS2926.1																																																																																				0.502	DHFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352910.1	NM_176815		12	162	0	0	0	1	0	12	162				
NPR3	4883	broad.mit.edu	37	5	32774849	32774849	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:32774849C>T	ENST00000265074.8	+	4	1438	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	NPR3_ENST00000415167.2_Silent_p.I365I|NPR3_ENST00000434067.2_Silent_p.I149I|NPR3_ENST00000415685.2_Silent_p.I149I	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	365					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	ACGATGCCATCCTCCTCTACG	0.433																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(1093-1095)atC>atT		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						215.0	203.0	207.0					5																	32774849		1907	4115	6022	SO:0001819	synonymous_variant	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32774849C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1095C>T	5.37:g.32774849C>T						NPR3_ENST00000415685.2_Silent_p.I149I|NPR3_ENST00000415167.2_Silent_p.I365I|NPR3_ENST00000434067.2_Silent_p.I149I	p.I365I	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			4	1438	+			365					A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	c.1095C>T	CCDS56357.1																																																																																				0.433	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		67	178	0	0	0	1	0	67	178				
PTPRK	5796	broad.mit.edu	37	6	128411046	128411046	+	Silent	SNP	C	C	T	rs368559795		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:128411046C>T	ENST00000368215.3	-	8	1253	c.1254G>A	c.(1252-1254)acG>acA	p.T418T	PTPRK_ENST00000368213.5_Silent_p.T418T|PTPRK_ENST00000368210.3_Silent_p.T418T|PTPRK_ENST00000368227.3_Silent_p.T418T|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Silent_p.T418T|PTPRK_ENST00000532331.1_Silent_p.T418T|PTPRK_ENST00000368207.3_Silent_p.T418T			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	418	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGTGGCAACGCGTAATGTTGT	0.463																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(1252-1254)acG>acA		protein tyrosine phosphatase, receptor type, K		C	,	0,4406		0,0,2203	168.0	140.0	149.0		1254,1254	-6.9	0.9	6		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PTPRK	NM_001135648.1,NM_002844.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	418/1447,418/1441	128411046	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128411046C>T	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1254G>A	6.37:g.128411046C>T						PTPRK_ENST00000368215.3_Silent_p.T418T|PTPRK_ENST00000368207.3_Silent_p.T418T|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Silent_p.T418T|PTPRK_ENST00000368226.4_Silent_p.T418T|PTPRK_ENST00000368210.3_Silent_p.T418T|PTPRK_ENST00000532331.1_Silent_p.T418T	p.T418T			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	8	1620	-			418			Fibronectin type-III 2.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	ENST00000368215.3	37	c.1254G>A																																																																																					0.463	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			19	74	0	0	0	1	0	19	74				
LARP4B	23185	broad.mit.edu	37	10	863782	863782	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:863782G>T	ENST00000316157.3	-	14	1618	c.1578C>A	c.(1576-1578)agC>agA	p.S526R	LARP4B_ENST00000469487.1_5'Flank	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	526					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CCAGCTCGAAGCTTGGCGACG	0.542																																						ENST00000316157.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						c.(1576-1578)agC>agA		La ribonucleoprotein domain family, member 4B							127.0	133.0	131.0					10																	863782		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:863782G>T	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1578C>A	10.37:g.863782G>T	ENSP00000326128:p.Ser526Arg						p.S526R	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN			14	1618	-			526					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.1578C>A	CCDS31131.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.27|15.27|15.27	2.784404|2.784404|2.784404	0.49997|0.49997|0.49997	.|.|.	.|.|.	ENSG00000107929|ENSG00000107929|ENSG00000107929	ENST00000440895|ENST00000448368|ENST00000316157	.|.|T	.|.|0.32515	.|.|1.45	6.11|6.11|6.11	3.25|3.25|3.25	0.37280|0.37280|0.37280	.|.|.	.|.|0.034991	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.33147|0.33147|0.33147	0.0853|0.0853|0.0853	L|L|L	0.47190|0.47190|0.47190	1.495|1.495|1.495	0.58432|0.58432|0.58432	D|D|D	0.999996|0.999996|0.999996	.|.|P	.|.|0.49696	.|.|0.927	.|.|P	.|.|0.50490	.|.|0.642	T|T|T	0.03287|0.03287|0.03287	-1.1052|-1.1052|-1.1052	5|5|10	.|.|0.40728	.|.|T	.|.|0.16	-14.4573|-14.4573|-14.4573	8.7723|8.7723|8.7723	0.34740|0.34740|0.34740	0.3386:0.0:0.6614:0.0|0.3386:0.0:0.6614:0.0|0.3386:0.0:0.6614:0.0	.|.|.	.|.|526	.|.|Q92615	.|.|LAR4B_HUMAN	D|I|R	2|92|526	.|.|ENSP00000326128:S526R	.|.|ENSP00000326128:S526R	A|L|S	-|-|-	2|1|3	0|0|2	LARP4B|LARP4B|LARP4B	853782|853782|853782	0.999000|0.999000|0.999000	0.42202|0.42202|0.42202	0.994000|0.994000|0.994000	0.49952|0.49952|0.49952	0.990000|0.990000|0.990000	0.78478|0.78478|0.78478	0.486000|0.486000|0.486000	0.22340|0.22340|0.22340	0.898000|0.898000|0.898000	0.36418|0.36418|0.36418	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCT|CTT|AGC		0.542	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		50	136	1	0	1.19451e-25	1	1.26519e-25	50	136				
FBXO44	93611	broad.mit.edu	37	1	11718437	11718437	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:11718437G>A	ENST00000251547.5	+	3	461	c.379G>A	c.(379-381)Gtt>Att	p.V127I	FBXO44_ENST00000376770.1_Missense_Mutation_p.V127I|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000376768.1_Intron	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	127	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GAAATACTTCGTTACTTCATA	0.532																																						ENST00000376770.1																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(379-381)Gtt>Att		F-box protein 44							92.0	98.0	96.0					1																	11718437		2203	4300	6503	SO:0001583	missense	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11718437G>A	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.379G>A	1.37:g.11718437G>A	ENSP00000251547:p.Val127Ile					FBXO44_ENST00000376768.1_Intron|FBXO44_ENST00000376760.1_Intron|FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000251547.5_Missense_Mutation_p.V127I|FBXO44_ENST00000251546.4_Intron	p.V127I	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	4	877	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	127			FBA.		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Missense_Mutation	SNP	ENST00000251547.5	37	c.379G>A	CCDS132.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788509	0.90367	.	.	ENSG00000132879	ENST00000376770;ENST00000251547	T;T	0.33654	1.4;1.4	5.39	5.39	0.77823	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	.	.	.	.	T	0.61912	0.2385	M	0.86178	2.8	0.42344	D	0.992347	D	0.69078	0.997	P	0.59546	0.859	T	0.67436	-0.5671	8	.	.	.	.	18.137	0.89622	0.0:0.0:1.0:0.0	.	127	Q9H4M3	FBX44_HUMAN	I	127	ENSP00000365961:V127I;ENSP00000251547:V127I	.	V	+	1	0	FBXO44	11641024	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.822000	0.75277	2.529000	0.85273	0.561000	0.74099	GTT		0.532	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412		34	112	0	0	0	1	0	34	112				
BTN1A1	696	broad.mit.edu	37	6	26507049	26507049	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:26507049T>C	ENST00000244513.6	+	4	914	c.848T>C	c.(847-849)tTc>tCc	p.F283S		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	283						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGGAATGAATTCAGCTCTAAA	0.448																																						ENST00000244513.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						c.(847-849)tTc>tCc		butyrophilin, subfamily 1, member A1							155.0	158.0	157.0					6																	26507049		2203	4300	6503	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26507049T>C	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.848T>C	6.37:g.26507049T>C	ENSP00000244513:p.Phe283Ser						p.F283S	NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN			4	914	+			283					Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.848T>C	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	T	1.512	-0.549157	0.04024	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.36340	1.26	5.4	2.98	0.34508	.	0.458006	0.19774	N	0.106368	T	0.09158	0.0226	L	0.46741	1.465	0.09310	N	0.999997	B	0.11235	0.004	B	0.08055	0.003	T	0.34725	-0.9817	10	0.07030	T	0.85	.	7.3501	0.26686	0.0:0.1836:0.0:0.8164	.	283	Q13410	BT1A1_HUMAN	S	283	ENSP00000244513:F283S	ENSP00000244513:F283S	F	+	2	0	BTN1A1	26615028	0.238000	0.23825	0.546000	0.28166	0.008000	0.06430	1.547000	0.36190	0.987000	0.38709	-0.256000	0.11100	TTC		0.448	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		10	259	0	0	0	1	0	10	259				
CHD1	1105	broad.mit.edu	37	5	98205478	98205478	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:98205478A>G	ENST00000284049.3	-	29	4236	c.4087T>C	c.(4087-4089)Tct>Cct	p.S1363P	CHD1_ENST00000511067.1_5'UTR	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1363					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCTTCATCAGACTTCTCTGAA	0.323																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(4087-4089)Tct>Cct		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						126.0	118.0	121.0					5																	98205478		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98205478A>G	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4087T>C	5.37:g.98205478A>G	ENSP00000284049:p.Ser1363Pro					CHD1_ENST00000511067.1_5'UTR	p.S1363P	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	29	4236	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1363					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.4087T>C	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	A	13.35	2.210027	0.39003	.	.	ENSG00000153922	ENST00000284049	D	0.90133	-2.62	4.64	4.64	0.57946	.	0.000000	0.33691	U	0.004647	D	0.91835	0.7416	L	0.44542	1.39	0.58432	D	0.999999	D	0.54601	0.967	D	0.63033	0.91	D	0.90329	0.4350	10	0.30078	T	0.28	.	13.932	0.64001	1.0:0.0:0.0:0.0	.	1363	O14646	CHD1_HUMAN	P	1363	ENSP00000284049:S1363P	ENSP00000284049:S1363P	S	-	1	0	CHD1	98233378	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.281000	0.78621	2.041000	0.60428	0.533000	0.62120	TCT		0.323	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		3	52	0	0	0	1	0	3	52				
DSCAM	1826	broad.mit.edu	37	21	41711055	41711055	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:41711055T>C	ENST00000400454.1	-	7	1975	c.1498A>G	c.(1498-1500)Aac>Gac	p.N500D		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	500	Ig-like C2-type 5.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTCTTACGTTTATTCGAGCC	0.517																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1498-1500)Aac>Gac		Down syndrome cell adhesion molecule							89.0	85.0	86.0					21																	41711055		1954	4158	6112	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41711055T>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1498A>G	21.37:g.41711055T>C	ENSP00000383303:p.Asn500Asp						p.N500D	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			7	1975	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	500			Ig-like C2-type 5.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1498A>G	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.610728	0.87258	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.66995	-0.24;-0.24	6.08	6.08	0.98989	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.046894	0.85682	D	0.000000	T	0.58075	0.2097	L	0.41124	1.26	0.58432	D	0.999996	P	0.40578	0.722	B	0.33846	0.171	T	0.63829	-0.6548	10	0.66056	D	0.02	.	16.643	0.85134	0.0:0.0:0.0:1.0	.	500	O60469	DSCAM_HUMAN	D	500;252	ENSP00000383303:N500D;ENSP00000385342:N252D	ENSP00000383303:N500D	N	-	1	0	DSCAM	40632925	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.946000	0.87746	2.330000	0.79161	0.533000	0.62120	AAC		0.517	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		20	52	0	0	0	1	0	20	52				
STYX	6815	broad.mit.edu	37	14	53235559	53235559	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:53235559A>G	ENST00000354586.4	+	10	799	c.506A>G	c.(505-507)gAa>gGa	p.E169G	STYX_ENST00000442123.2_Splice_Site_p.E169G|STYX_ENST00000556861.1_Intron	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	169					MAPK export from nucleus (GO:0045204)|protein dephosphorylation (GO:0006470)|regulation of ERK1 and ERK2 cascade (GO:0070372)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					tttttttaGGAATATGAAGCC	0.303																																						ENST00000354586.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.e10-1		serine/threonine/tyrosine interacting protein							54.0	54.0	54.0					14																	53235559		2203	4296	6499	SO:0001630	splice_region_variant	6815				protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity	g.chr14:53235559A>G		CCDS9711.1	14q22.1	2011-06-09	2001-11-29		ENSG00000198252	ENSG00000198252		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	11447	protein-coding gene	gene with protein product		615814	"""serine/threonine/tyrosine-interacting protein"""			7592916	Standard	NM_145251		Approved		uc010tqy.2	Q8WUJ0	OTTHUMG00000140306	ENST00000354586.4:c.505-1A>G	14.37:g.53235559A>G						STYX_ENST00000556861.1_Intron|STYX_ENST00000442123.2_Splice_Site_p.E169_splice	p.E169_splice	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN			10	799	+	Breast(41;0.176)		169					B9EJG0|Q99850	Splice_Site	SNP	ENST00000354586.4	37	c.504_splice	CCDS9711.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691214	0.88735	.	.	ENSG00000198252	ENST00000442123;ENST00000354586	D;D	0.88124	-2.34;-2.34	5.84	5.84	0.93424	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.048874	0.85682	D	0.000000	D	0.93327	0.7873	M	0.88450	2.955	0.80722	D	1	P	0.48503	0.911	P	0.55923	0.787	D	0.94285	0.7523	10	0.72032	D	0.01	.	16.2129	0.82178	1.0:0.0:0.0:0.0	.	169	Q8WUJ0	STYX_HUMAN	G	169	ENSP00000403214:E169G;ENSP00000346599:E169G	ENSP00000346599:E169G	E	+	2	0	STYX	52305309	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.216000	0.89764	2.220000	0.72140	0.482000	0.46254	GAA		0.303	STYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276902.1	NM_145251	Missense_Mutation	34	47	0	0	0	1	0	34	47				
ZNF574	64763	broad.mit.edu	37	19	42583151	42583151	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:42583151C>T	ENST00000600245.1	+	2	1048	c.393C>T	c.(391-393)tgC>tgT	p.C131C	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Silent_p.C221C|ZNF574_ENST00000359044.4_Silent_p.C131C			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	131					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(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GTGTGGATTGCAAGGCTCTCT	0.632																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(391-393)tgC>tgT		zinc finger protein 574							47.0	48.0	48.0					19																	42583151		2203	4299	6502	SO:0001819	synonymous_variant	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42583151C>T	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.393C>T	19.37:g.42583151C>T						CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Silent_p.C221C|ZNF574_ENST00000359044.4_Silent_p.C131C	p.C131C			Q6ZN55	ZN574_HUMAN			2	1048	+		Prostate(69;0.059)	131					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Silent	SNP	ENST00000600245.1	37	c.393C>T	CCDS12596.1																																																																																				0.632	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		24	81	0	0	0	1	0	24	81				
SYMPK	8189	broad.mit.edu	37	19	46341722	46341722	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:46341722A>G	ENST00000245934.7	-	10	1483	c.1239T>C	c.(1237-1239)aaT>aaC	p.N413N		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	413					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCCTCACCAGATTAGCCACAT	0.597																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(1237-1239)aaT>aaC		symplekin							58.0	45.0	49.0					19																	46341722		2203	4300	6503	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46341722A>G	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1239T>C	19.37:g.46341722A>G							p.N413N	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	10	1483	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	413					O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.1239T>C	CCDS12676.2																																																																																				0.597	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		6	34	0	0	0	1	0	6	34				
POLR2F	5435	broad.mit.edu	37	22	38349816	38349816	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:38349816T>C	ENST00000442738.2	+	1	145		c.e1+2		C22orf23_ENST00000403305.1_5'Flank|POLR2F_ENST00000460648.1_Splice_Site|POLR2F_ENST00000470701.1_5'UTR|POLR2F_ENST00000606538.1_Splice_Site|RP5-1039K5.17_ENST00000609976.1_RNA|POLR2F_ENST00000407936.1_Splice_Site|POLR2F_ENST00000405557.1_Splice_Site|C22orf23_ENST00000249079.2_5'Flank|POLR2F_ENST00000488684.1_Splice_Site|C22orf23_ENST00000403026.1_5'Flank	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F						7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					CGAGGACAAGTGAGTGCGGGA	0.667																																						ENST00000442738.2																			0				breast(1)|urinary_tract(2)	3						c.e1+2		polymerase (RNA) II (DNA directed) polypeptide F							60.0	46.0	51.0					22																	38349816		2203	4299	6502	SO:0001630	splice_region_variant	5435				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity	g.chr22:38349816T>C		CCDS13963.1	22q13.1	2013-01-21			ENSG00000100142	ENSG00000100142		"""RNA polymerase subunits"""	9193	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 14.4 kda polypeptide"""	604414				8786150	Standard	XR_112241		Approved	RPB6, HRBP14.4	uc010gxi.3	P61218	OTTHUMG00000151160	ENST00000442738.2:c.20+2T>C	22.37:g.38349816T>C						POLR2F_ENST00000407936.1_Splice_Site|POLR2F_ENST00000606538.1_Splice_Site|POLR2F_ENST00000405557.1_Splice_Site|POLR2F_ENST00000488684.1_Splice_Site|POLR2F_ENST00000484894.1_Intron|POLR2F_ENST00000470701.1_5'UTR|POLR2F_ENST00000460648.1_Splice_Site		NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN			1	145	+	Melanoma(58;0.045)							P41584|Q6IAY3	Splice_Site	SNP	ENST00000442738.2	37		CCDS13963.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.003637	0.93287	.	.	ENSG00000100142	ENST00000442738;ENST00000407936;ENST00000405557	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1408	0.72609	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLR2F	36679762	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.491000	0.73649	2.030000	0.59900	0.533000	0.62120	.		0.667	POLR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321570.1	NM_021974	Intron	10	29	0	0	0	1	0	10	29				
CAPRIN1	4076	broad.mit.edu	37	11	34074146	34074146	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:34074146T>C	ENST00000341394.4	+	2	368	c.179T>C	c.(178-180)gTg>gCg	p.V60A	CAPRIN1_ENST00000532820.1_Missense_Mutation_p.V60A|CAPRIN1_ENST00000529307.1_5'Flank|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.V60A|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.V60A	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	60					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				ATTCTCGGGGTGATCGACAAG	0.701																																						ENST00000341394.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18						c.(178-180)gTg>gCg		cell cycle associated protein 1							17.0	17.0	17.0					11																	34074146		2191	4283	6474	SO:0001583	missense	4076				negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding	g.chr11:34074146T>C	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.179T>C	11.37:g.34074146T>C	ENSP00000340329:p.Val60Ala					CAPRIN1_ENST00000389645.3_Missense_Mutation_p.V60A|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.V60A|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.V60A	p.V60A	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN			2	368	+		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)	60					A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	ENST00000341394.4	37	c.179T>C	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390413	0.82902	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000534825;ENST00000532820;ENST00000530820	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	4.21	4.21	0.49690	.	0.133138	0.50627	U	0.000120	T	0.35653	0.0939	L	0.50333	1.59	0.80722	D	1	D;D	0.56746	0.962;0.977	P;P	0.55749	0.611;0.783	T	0.05920	-1.0856	10	0.39692	T	0.17	-4.5897	11.8437	0.52371	0.0:0.0:0.0:1.0	.	60;60	Q14444;Q14444-2	CAPR1_HUMAN;.	A	60	ENSP00000340329:V60A;ENSP00000374296:V60A;ENSP00000431373:V60A;ENSP00000434150:V60A;ENSP00000434204:V60A	ENSP00000340329:V60A	V	+	2	0	CAPRIN1	34030722	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	4.394000	0.59671	1.674000	0.50907	0.451000	0.29950	GTG		0.701	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		9	19	0	0	0	1	0	9	19				
TSC22D4	81628	broad.mit.edu	37	7	100065214	100065214	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100065214T>C	ENST00000300181.2	-	4	1693	c.939A>G	c.(937-939)ggA>ggG	p.G313G	TSC22D4_ENST00000496728.1_5'UTR|TSC22D4_ENST00000393991.1_Silent_p.G74G	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	313					negative regulation of transcription, DNA-templated (GO:0045892)|response to osmotic stress (GO:0006970)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAACCAGGCTTCCGGAGCCAC	0.602																																						ENST00000300181.2																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8						c.(937-939)ggA>ggG		TSC22 domain family, member 4							111.0	108.0	109.0					7																	100065214		2203	4300	6503	SO:0001819	synonymous_variant	81628				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:100065214T>C	BC010406	CCDS5695.1	7p21-p15	2010-04-30			ENSG00000166925	ENSG00000166925			21696	protein-coding gene	gene with protein product		611914					Standard	NM_030935		Approved	THG-1, TILZ2	uc003uva.3	Q9Y3Q8	OTTHUMG00000150233	ENST00000300181.2:c.939A>G	7.37:g.100065214T>C						TSC22D4_ENST00000393991.1_Silent_p.G74G|TSC22D4_ENST00000496728.1_5'UTR	p.G313G	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN			4	1693	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		313					A4D2C3|A8MWR6|D6W5V9	Silent	SNP	ENST00000300181.2	37	c.939A>G	CCDS5695.1	.	.	.	.	.	.	.	.	.	.	T	6.916	0.538667	0.13250	.	.	ENSG00000166925	ENST00000423266;ENST00000456330	.	.	.	4.31	1.7	0.24286	.	.	.	.	.	T	0.58524	0.2128	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50939	-0.8768	4	.	.	.	-6.8353	9.9553	0.41663	0.0:0.0:0.5126:0.4874	.	.	.	.	G	129;131	.	.	E	-	2	0	TSC22D4	99903150	0.000000	0.05858	0.980000	0.43619	0.931000	0.56810	-0.605000	0.05661	0.108000	0.17862	0.528000	0.53228	GAA		0.602	TSC22D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316970.1	NM_030935		19	68	0	0	0	1	0	19	68				
MOGS	7841	broad.mit.edu	37	2	74689730	74689730	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:74689730T>C	ENST00000233616.4	-	4	1348	c.1186A>G	c.(1186-1188)Agc>Ggc	p.S396G	MOGS_ENST00000452063.2_Missense_Mutation_p.S290G|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'Flank	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	396					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						AGGAGGCCGCTGAGGGCAGCC	0.582																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(1186-1188)Agc>Ggc		mannosyl-oligosaccharide glucosidase							112.0	121.0	118.0					2																	74689730		1932	4132	6064	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74689730T>C	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1186A>G	2.37:g.74689730T>C	ENSP00000233616:p.Ser396Gly					MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.S290G	p.S396G	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	1348	-			396					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.1186A>G	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	T	16.30	3.084061	0.55861	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000448666	T;T;T	0.54071	0.59;0.59;0.59	4.73	4.73	0.59995	.	0.101925	0.64402	D	0.000004	T	0.71195	0.3311	M	0.86178	2.8	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.74636	-0.3599	10	0.66056	D	0.02	-10.7663	7.7263	0.28761	0.1868:0.0:0.0:0.8132	.	396	Q13724	MOGS_HUMAN	G	396;290;290	ENSP00000233616:S396G;ENSP00000388201:S290G;ENSP00000410992:S290G	ENSP00000233616:S396G	S	-	1	0	MOGS	74543238	1.000000	0.71417	0.992000	0.48379	0.962000	0.63368	5.148000	0.64857	1.990000	0.58119	0.533000	0.62120	AGC		0.582	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		9	310	0	0	0	1	0	9	310				
GMPS	8833	broad.mit.edu	37	3	155654227	155654227	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:155654227T>C	ENST00000496455.2	+	15	2243	c.1908T>C	c.(1906-1908)gtT>gtC	p.V636V	GMPS_ENST00000295920.7_Silent_p.V537V	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	636					glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	GATCTGTGGTTATTCGAACCT	0.418			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	ENST00000496455.1				Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1906-1908)gtT>gtC		guanine monphosphate synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						138.0	131.0	133.0					3																	155654227		1866	4103	5969	SO:0001819	synonymous_variant	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155654227T>C	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.1908T>C	3.37:g.155654227T>C						GMPS_ENST00000295920.7_Silent_p.V537V	p.V636V	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		15	2243	+			636					A8K639|B4DXV7|F8W720	Silent	SNP	ENST00000496455.2	37	c.1908T>C	CCDS46941.1																																																																																				0.418	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			19	150	0	0	0	1	0	19	150				
PCDH19	57526	broad.mit.edu	37	X	99662998	99662998	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:99662998T>C	ENST00000373034.4	-	1	2273	c.598A>G	c.(598-600)Acg>Gcg	p.T200A	PCDH19_ENST00000420881.2_Missense_Mutation_p.T200A|PCDH19_ENST00000255531.7_Missense_Mutation_p.T200A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	200	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGCGACTGCGTCTCGCGGTCC	0.637																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(598-600)Acg>Gcg		protocadherin 19							50.0	54.0	53.0					X																	99662998		2159	4225	6384	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662998T>C	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.598A>G	X.37:g.99662998T>C	ENSP00000362125:p.Thr200Ala					PCDH19_ENST00000255531.7_Missense_Mutation_p.T200A|PCDH19_ENST00000420881.2_Missense_Mutation_p.T200A	p.T200A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2273	-			200			Cadherin 2.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.598A>G	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.943465	0.53079	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.51071	0.72;0.72;0.72	5.8	5.8	0.92144	Cadherin (4);Cadherin-like (1);	0.046398	0.85682	D	0.000000	T	0.60534	0.2276	L	0.44542	1.39	0.58432	D	0.999996	D;P;P	0.69078	0.997;0.745;0.785	D;P;P	0.79108	0.992;0.62;0.739	T	0.57820	-0.7745	10	0.33940	T	0.23	.	15.0964	0.72238	0.0:0.0:0.0:1.0	.	200;200;200	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	A	200	ENSP00000400327:T200A;ENSP00000362125:T200A;ENSP00000255531:T200A	ENSP00000255531:T200A	T	-	1	0	PCDH19	99549654	1.000000	0.71417	0.963000	0.40424	0.900000	0.52787	5.061000	0.64319	1.948000	0.56530	0.441000	0.28932	ACG		0.637	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		29	34	0	0	0	1	0	29	34				
NCKIPSD	51517	broad.mit.edu	37	3	48717525	48717525	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:48717525G>A	ENST00000294129.2	-	6	1349	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	NCKIPSD_ENST00000416649.2_Silent_p.I403I|NCKIPSD_ENST00000341520.4_Silent_p.I410I	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	410					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTAGCAGCGGATGACACCCT	0.602																																						ENST00000294129.2																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.(1228-1230)atC>atT		NCK interacting protein with SH3 domain							82.0	72.0	75.0					3																	48717525		2203	4300	6503	SO:0001819	synonymous_variant	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48717525G>A	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1230C>T	3.37:g.48717525G>A						NCKIPSD_ENST00000416649.2_Silent_p.I403I|NCKIPSD_ENST00000341520.4_Silent_p.I410I	p.I410I	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	6	1349	-			410					B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Silent	SNP	ENST00000294129.2	37	c.1230C>T	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	G	8.947	0.967304	0.18659	.	.	ENSG00000213672	ENST00000415281	.	.	.	4.96	1.12	0.20585	.	.	.	.	.	T	0.56848	0.2013	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47222	-0.9134	4	.	.	.	.	8.6566	0.34066	0.369:0.0:0.631:0.0	.	.	.	.	S	146	.	.	P	-	1	0	NCKIPSD	48692529	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	2.725000	0.47294	-0.078000	0.12730	0.563000	0.77884	CCG		0.602	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		37	65	0	0	0	1	0	37	65				
C16orf62	57020	broad.mit.edu	37	16	19628077	19628077	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:19628077T>C	ENST00000251143.5	+	14	1183	c.1171T>C	c.(1171-1173)Tac>Cac	p.Y391H	C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000543152.1_Missense_Mutation_p.Y140H|C16orf62_ENST00000438132.3_Missense_Mutation_p.Y480H|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000448695.1_Missense_Mutation_p.Y241H			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	391						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CCTCCCCTTGTACCCGCCTGC	0.552																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(1438-1440)Tac>Cac		chromosome 16 open reading frame 62							124.0	98.0	107.0					16																	19628077		2197	4300	6497	SO:0001583	missense	57020					integral to membrane		g.chr16:19628077T>C		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1171T>C	16.37:g.19628077T>C	ENSP00000251143:p.Tyr391His					C16orf62_ENST00000448695.1_Missense_Mutation_p.Y241H|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000251143.5_Missense_Mutation_p.Y391H|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000543152.1_Missense_Mutation_p.Y140H	p.Y480H	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			14	1486	+			391					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37	c.1438T>C		.	.	.	.	.	.	.	.	.	.	T	27.4	4.832235	0.91036	.	.	ENSG00000103544	ENST00000438132;ENST00000251143;ENST00000448695	T;T;T	0.40756	1.02;1.02;1.02	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.65407	0.2688	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.984	T	0.67864	-0.5560	9	.	.	.	-24.7488	15.0799	0.72106	0.0:0.0:0.0:1.0	.	391;480	Q7Z3J2;E7EWW0	CP062_HUMAN;.	H	480;391;241	ENSP00000400815:Y480H;ENSP00000251143:Y391H;ENSP00000398009:Y241H	.	Y	+	1	0	C16orf62	19535578	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.519000	0.81809	2.042000	0.60477	0.455000	0.32223	TAC		0.552	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		19	45	0	0	0	1	0	19	45				
ARHGAP39	80728	broad.mit.edu	37	8	145771072	145771072	+	Silent	SNP	G	G	A	rs139243141	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145771072G>A	ENST00000276826.5	-	5	2283	c.2082C>T	c.(2080-2082)atC>atT	p.I694I	ARHGAP39_ENST00000540274.1_Silent_p.I694I|ARHGAP39_ENST00000377307.2_Silent_p.I694I|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	694					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CCCAGTTCTCGATGTCCGTCT	0.642																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(2080-2082)atC>atT		Rho GTPase activating protein 39		G		4,4402	8.1+/-20.4	0,4,2199	58.0	53.0	55.0		2082	-2.9	1.0	8	dbSNP_134	55	0,8600		0,0,4300	no	coding-synonymous	ARHGAP39	NM_025251.1		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		694/1115	145771072	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145771072G>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2082C>T	8.37:g.145771072G>A						ARHGAP39_ENST00000377307.2_Silent_p.I694I|ARHGAP39_ENST00000540274.1_Silent_p.I694I	p.I694I			Q9C0H5	RHG39_HUMAN			5	2283	-			694					B4E1I1	Silent	SNP	ENST00000276826.5	37	c.2082C>T																																																																																					0.642	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			53	51	0	0	0	1	0	53	51				
PHC2	1912	broad.mit.edu	37	1	33790497	33790497	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:33790497T>C	ENST00000257118.5	-	14	2599	c.2546A>G	c.(2545-2547)tAc>tGc	p.Y849C	RP11-415J8.3_ENST00000457957.2_RNA|PHC2_ENST00000485928.1_5'UTR|RP11-415J8.3_ENST00000588828.1_RNA|PHC2_ENST00000419414.2_Missense_Mutation_p.Y850C|PHC2_ENST00000431992.1_Missense_Mutation_p.Y820C|RP11-415J8.3_ENST00000587696.1_RNA|PHC2_ENST00000373422.3_Missense_Mutation_p.Y455C|PHC2_ENST00000373418.3_Missense_Mutation_p.Y314C	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	849	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GATGCGGGCGTAGATCTTCAG	0.627																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2545-2547)tAc>tGc		polyhomeotic homolog 2 (Drosophila)							76.0	69.0	71.0					1																	33790497		2203	4300	6503	SO:0001583	missense	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33790497T>C	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.2546A>G	1.37:g.33790497T>C	ENSP00000257118:p.Tyr849Cys					PHC2_ENST00000419414.2_Missense_Mutation_p.Y850C|PHC2_ENST00000373422.3_Missense_Mutation_p.Y455C|PHC2_ENST00000431992.1_Missense_Mutation_p.Y820C|RP11-415J8.3_ENST00000588828.1_RNA|RP11-415J8.3_ENST00000587696.1_RNA|PHC2_ENST00000485928.1_5'UTR|RP11-415J8.3_ENST00000457957.2_RNA|PHC2_ENST00000373418.3_Missense_Mutation_p.Y314C	p.Y849C	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			14	2599	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	849			SAM.		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	c.2546A>G	CCDS378.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.654384	0.47467	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.51	5.51	0.81932	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.053381	0.85682	D	0.000000	T	0.21347	0.0514	N	0.01742	-0.745	0.80722	D	1	P;P;P	0.39535	0.677;0.677;0.677	B;B;B	0.40329	0.326;0.326;0.326	T	0.33650	-0.9860	10	0.02654	T	1	-12.7274	13.5768	0.61879	0.0:0.0:0.0:1.0	.	850;821;849	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	C	820;849;455;314;425;850	ENSP00000389436:Y820C;ENSP00000257118:Y849C;ENSP00000362521:Y455C;ENSP00000362517:Y314C;ENSP00000391440:Y850C	ENSP00000257118:Y849C	Y	-	2	0	PHC2	33563084	0.956000	0.32656	0.941000	0.38009	0.994000	0.84299	1.741000	0.38238	2.093000	0.63338	0.533000	0.62120	TAC		0.627	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		22	74	0	0	0	1	0	22	74				
CBX2	84733	broad.mit.edu	37	17	77758181	77758181	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:77758181C>T	ENST00000310942.4	+	5	1043	c.939C>T	c.(937-939)agC>agT	p.S313S		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	313					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S313S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGGCCCCCAGCGGTGGGGCTG	0.677																																						ENST00000310942.4																			1	Substitution - coding silent(1)	p.S313S(1)	breast(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16						c.(937-939)agC>agT		chromobox homolog 2							18.0	21.0	20.0					17																	77758181		2200	4297	6497	SO:0001819	synonymous_variant	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77758181C>T	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.939C>T	17.37:g.77758181C>T							p.S313S	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1043	+			313					Q0VDA5|Q9BTB1	Silent	SNP	ENST00000310942.4	37	c.939C>T	CCDS32757.1																																																																																				0.677	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		8	35	0	0	0	1	0	8	35				
CDYL	9425	broad.mit.edu	37	6	4937972	4937972	+	Splice_Site	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:4937972G>A	ENST00000328908.5	+	6	1414		c.e6+1		CDYL_ENST00000449732.2_Splice_Site|CDYL_ENST00000397588.3_Splice_Site|CDYL_ENST00000472453.1_Splice_Site|CDYL_ENST00000343762.5_Splice_Site			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like						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)		AAGCTATCAGGTATGTAAAAA	0.373																																						ENST00000328908.5																			0				breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30						c.e6+1		chromodomain protein, Y-like							86.0	83.0	84.0					6																	4937972		2203	4300	6503	SO:0001630	splice_region_variant	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4937972G>A	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.1283+1G>A	6.37:g.4937972G>A						CDYL_ENST00000449732.2_Splice_Site|CDYL_ENST00000397588.3_Splice_Site|CDYL_ENST00000343762.5_Splice_Site|CDYL_ENST00000472453.1_Splice_Site				Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	6	1414	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)						A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Splice_Site	SNP	ENST00000328908.5	37			.	.	.	.	.	.	.	.	.	.	G	18.29	3.591744	0.66219	.	.	ENSG00000153046	ENST00000328908;ENST00000440139;ENST00000397588;ENST00000449732;ENST00000343762	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5273	0.90976	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDYL	4882971	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	9.585000	0.98223	2.684000	0.91462	0.585000	0.79938	.		0.373	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824	Intron	18	47	0	0	0	1	0	18	47				
PRKD1	5587	broad.mit.edu	37	14	30107747	30107747	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:30107747A>G	ENST00000331968.5	-	6	1162	c.933T>C	c.(931-933)cgT>cgC	p.R311R	PRKD1_ENST00000415220.2_Silent_p.R319R|PRKD1_ENST00000551644.1_5'UTR	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	311					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCGGTGCACAACGTTTATGGC	0.373																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(931-933)cgT>cgC		protein kinase D1							187.0	163.0	171.0					14																	30107747		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30107747A>G		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.933T>C	14.37:g.30107747A>G						PRKD1_ENST00000415220.2_Silent_p.R319R|PRKD1_ENST00000551644.1_5'UTR	p.R311R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	6	1162	-	Hepatocellular(127;0.0604)		311					A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.933T>C	CCDS9637.1																																																																																				0.373	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		23	90	0	0	0	1	0	23	90				
QARS	5859	broad.mit.edu	37	3	49139697	49139697	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:49139697A>G	ENST00000306125.6	-	7	909	c.572T>C	c.(571-573)gTg>gCg	p.V191A	QARS_ENST00000470225.1_5'UTR|QARS_ENST00000414533.1_Splice_Site_p.V180A|QARS_ENST00000420147.2_Splice_Site_p.V209A			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	191					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGCTTTTGCCACCTGAAAGAA	0.517																																						ENST00000306125.6																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.e7-1		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						190.0	201.0	198.0					3																	49139697		2203	4300	6503	SO:0001630	splice_region_variant	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49139697A>G	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.571-1T>C	3.37:g.49139697A>G						QARS_ENST00000420147.2_Splice_Site_p.V209_splice|QARS_ENST00000470225.1_5'UTR|QARS_ENST00000414533.1_Splice_Site_p.V180_splice	p.V191_splice			P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	7	909	-			191					B4DWJ2	Splice_Site	SNP	ENST00000306125.6	37	c.570_splice	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	A	6.534	0.466686	0.12402	.	.	ENSG00000172053	ENST00000306125;ENST00000414533;ENST00000420147;ENST00000452739	T;T	0.20463	2.07;2.07	5.13	4.0	0.46444	Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain 2 (1);	0.206543	0.41294	D	0.000904	T	0.05777	0.0151	N	0.01874	-0.695	0.41843	D	0.990134	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.14023	0.01;0.003;0.003	T	0.27262	-1.0079	10	0.10111	T	0.7	-15.7109	3.3363	0.07102	0.7311:0.0:0.2689:0.0	.	209;180;191	B7Z840;B4DWJ2;P47897	.;.;SYQ_HUMAN	A	191;180;209;233	ENSP00000307567:V191A;ENSP00000390015:V180A	ENSP00000307567:V191A	V	-	2	0	QARS	49114701	0.059000	0.20769	0.948000	0.38648	0.882000	0.50991	0.192000	0.17096	1.938000	0.56188	0.533000	0.62120	GTG		0.517	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051	Missense_Mutation	103	330	0	0	0	1	0	103	330				
FZD6	8323	broad.mit.edu	37	8	104341955	104341955	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:104341955A>G	ENST00000358755.4	+	6	1931	c.1614A>G	c.(1612-1614)aaA>aaG	p.K538K	FZD6_ENST00000522566.1_Silent_p.K538K|FZD6_ENST00000523739.1_Silent_p.K506K|FZD6_ENST00000540287.1_Silent_p.K233K	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	538					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			CTAAAGTTAAACACAAAAAGA	0.378																																						ENST00000358755.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1612-1614)aaA>aaG		frizzled family receptor 6							58.0	57.0	57.0					8																	104341955		2203	4300	6503	SO:0001819	synonymous_variant	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104341955A>G	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1614A>G	8.37:g.104341955A>G						FZD6_ENST00000523739.1_Silent_p.K506K|FZD6_ENST00000540287.1_Silent_p.K233K|FZD6_ENST00000522566.1_Silent_p.K538K	p.K538K	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		6	1931	+			538					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Silent	SNP	ENST00000358755.4	37	c.1614A>G	CCDS6298.1																																																																																				0.378	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		13	66	0	0	0	1	0	13	66				
TDRD6	221400	broad.mit.edu	37	6	46659966	46659966	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:46659966T>C	ENST00000316081.6	+	1	4101	c.4101T>C	c.(4099-4101)aaT>aaC	p.N1367N	TDRD6_ENST00000544460.1_Silent_p.N1367N	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1367	Tudor 6. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CAGAAGATAATTTATGGTATC	0.378																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4099-4101)aaT>aaC		tudor domain containing 6							198.0	201.0	200.0					6																	46659966		2203	4300	6503	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46659966T>C	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4101T>C	6.37:g.46659966T>C						TDRD6_ENST00000316081.6_Silent_p.N1367N	p.N1367N	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4355	+			1367			Tudor 6.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.4101T>C	CCDS34470.1																																																																																				0.378	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		88	209	0	0	0	1	0	88	209				
C1orf87	127795	broad.mit.edu	37	1	60503711	60503711	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:60503711T>C	ENST00000371201.3	-	6	923	c.816A>G	c.(814-816)gcA>gcG	p.A272A	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	272							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGTCTGCAGCTGCTTTATTTT	0.388																																					NSCLC(75;811 1386 4923 13371 51772)	ENST00000371201.3																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(814-816)gcA>gcG		chromosome 1 open reading frame 87							106.0	94.0	98.0					1																	60503711		2203	4300	6503	SO:0001819	synonymous_variant	127795						calcium ion binding	g.chr1:60503711T>C	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.816A>G	1.37:g.60503711T>C						C1orf87_ENST00000450089.2_Intron	p.A272A	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN			6	923	-			272					Q6ZU07|Q8IVS0	Silent	SNP	ENST00000371201.3	37	c.816A>G	CCDS614.1																																																																																				0.388	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		16	29	0	0	0	1	0	16	29				
HELZ2	85441	broad.mit.edu	37	20	62191955	62191955	+	Silent	SNP	G	G	A	rs141657913	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:62191955G>A	ENST00000467148.1	-	16	7446	c.7377C>T	c.(7375-7377)caC>caT	p.H2459H	HELZ2_ENST00000427522.2_Silent_p.H1890H	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2459	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CCTTGCCAGCGTGGCCCAGGA	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15637	0.0		0.0	False		,,,				2504	0.0					ENST00000467148.1																			0											c.(7375-7377)caC>caT		helicase with zinc finger 2, transcriptional coactivator		G	,	5,4401	9.9+/-24.2	0,5,2198	85.0	84.0	84.0		7377,5670	-3.7	0.0	20	dbSNP_134	84	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	PRIC285	NM_001037335.2,NM_033405.3	,	0,8,6495	AA,AG,GG		0.0349,0.1135,0.0615	,	2459/2650,1890/2081	62191955	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	85441							g.chr20:62191955G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7377C>T	20.37:g.62191955G>A						HELZ2_ENST00000427522.2_Silent_p.H1890H	p.H2459H	NM_001037335.2	NP_001032412.2					16	7446	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.7377C>T	CCDS33508.1																																																																																				0.632	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		43	116	0	0	0	1	0	43	116				
CELSR1	9620	broad.mit.edu	37	22	46929670	46929670	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:46929670T>C	ENST00000262738.3	-	1	3397	c.3398A>G	c.(3397-3399)gAc>gGc	p.D1133G	CELSR1_ENST00000395964.1_Missense_Mutation_p.D1133G|CELSR1_ENST00000497509.1_5'UTR	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1133	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTCTGACACGTCGGGGTCATG	0.622																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(3397-3399)gAc>gGc		cadherin, EGF LAG seven-pass G-type receptor 1							87.0	85.0	86.0					22																	46929670		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46929670T>C	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3398A>G	22.37:g.46929670T>C	ENSP00000262738:p.Asp1133Gly					CELSR1_ENST00000497509.1_5'UTR|CELSR1_ENST00000395964.1_Missense_Mutation_p.D1133G	p.D1133G	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	3397	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1133			Cadherin 9.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.3398A>G	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.89|16.89	3.246576|3.246576	0.59103|0.59103	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000262738;ENST00000395964|ENST00000454637	T;T|.	0.58652|.	0.32;0.32|.	4.53|4.53	3.49|3.49	0.39957|0.39957	Cadherin (3);Cadherin-like (1);|.	0.000000|.	0.64402|.	U|.	0.000002|.	T|T	0.80171|0.80171	0.4574|0.4574	M|M	0.93197|0.93197	3.39|3.39	0.44834|0.44834	D|D	0.997846|0.997846	D|.	0.71674|.	0.998|.	D|.	0.72982|.	0.979|.	T|T	0.81590|0.81590	-0.0863|-0.0863	10|5	0.87932|.	D|.	0|.	.|.	9.6634|9.6634	0.39969|0.39969	0.0:0.0853:0.0:0.9146|0.0:0.0853:0.0:0.9146	.|.	1133|.	Q9NYQ6|.	CELR1_HUMAN|.	G|A	1133|508	ENSP00000262738:D1133G;ENSP00000379293:D1133G|.	ENSP00000262738:D1133G|.	D|T	-|-	2|1	0|0	CELSR1|CELSR1	45308334|45308334	1.000000|1.000000	0.71417|0.71417	0.909000|0.909000	0.35828|0.35828	0.393000|0.393000	0.30537|0.30537	4.882000|4.882000	0.63121|0.63121	0.591000|0.591000	0.29711|0.29711	0.379000|0.379000	0.24179|0.24179	GAC|ACG		0.622	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		10	168	0	0	0	1	0	10	168				
UNC13A	23025	broad.mit.edu	37	19	17758091	17758091	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17758091G>A	ENST00000519716.2	-	17	2026	c.2027C>T	c.(2026-2028)gCc>gTc	p.A676V	UNC13A_ENST00000550896.1_Missense_Mutation_p.A674V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A676V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A676V|UNC13A_ENST00000552293.1_Missense_Mutation_p.A676V|UNC13A_ENST00000428389.2_Missense_Mutation_p.A764V	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	676	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCTGATCTTGGCGGACCACTT	0.647																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(2290-2292)gCc>gTc		unc-13 homolog A (C. elegans)							35.0	39.0	38.0					19																	17758091		2098	4204	6302	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17758091G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2027C>T	19.37:g.17758091G>A	ENSP00000429562:p.Ala676Val					UNC13A_ENST00000552293.1_Missense_Mutation_p.A676V|UNC13A_ENST00000519716.2_Missense_Mutation_p.A676V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A676V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A676V|UNC13A_ENST00000550896.1_Missense_Mutation_p.A674V	p.A764V			Q9UPW8	UN13A_HUMAN			18	2290	-			676			C2 2.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2291C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801597	0.90538	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	4.09	4.09	0.47781	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	T	0.69024	0.3065	L	0.38838	1.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.67231	0.95	T	0.73297	-0.4027	10	0.87932	D	0	-21.1775	14.1166	0.65159	0.0:0.0:1.0:0.0	.	676	Q9UPW8	UN13A_HUMAN	V	676;764;676;676;676;674	ENSP00000429562:A676V;ENSP00000400409:A764V;ENSP00000252773:A676V;ENSP00000447236:A676V;ENSP00000447572:A676V;ENSP00000446831:A674V	ENSP00000252773:A676V	A	-	2	0	UNC13A	17619091	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	9.620000	0.98373	1.991000	0.58162	0.313000	0.20887	GCC		0.647	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		6	9	0	0	0	1	0	6	9				
EPHX4	253152	broad.mit.edu	37	1	92518158	92518158	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:92518158T>C	ENST00000370383.4	+	6	898	c.800T>C	c.(799-801)gTc>gCc	p.V267A		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	267						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TATATTTATGTCTTTTCTCAG	0.328																																					GBM(140;473 1857 5172 22066 49719)	ENST00000370383.4																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.(799-801)gTc>gCc		epoxide hydrolase 4							77.0	72.0	73.0					1																	92518158		2203	4300	6503	SO:0001583	missense	253152					integral to membrane	hydrolase activity	g.chr1:92518158T>C	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.800T>C	1.37:g.92518158T>C	ENSP00000359410:p.Val267Ala						p.V267A	NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN			6	898	+			267					Q8NCC6	Missense_Mutation	SNP	ENST00000370383.4	37	c.800T>C	CCDS736.1	.	.	.	.	.	.	.	.	.	.	T	3.072	-0.190845	0.06299	.	.	ENSG00000172031	ENST00000370383	T	0.66638	-0.22	5.06	3.9	0.45041	.	0.111433	0.64402	D	0.000010	T	0.10852	0.0265	N	0.00563	-1.375	0.34646	D	0.721129	B	0.06786	0.001	B	0.09377	0.004	T	0.19712	-1.0297	10	0.02654	T	1	.	11.8679	0.52503	0.0:0.0:0.1464:0.8536	.	267	Q8IUS5	EPHX4_HUMAN	A	267	ENSP00000359410:V267A	ENSP00000359410:V267A	V	+	2	0	EPHX4	92290746	1.000000	0.71417	0.947000	0.38551	0.936000	0.57629	5.614000	0.67695	0.729000	0.32403	0.383000	0.25322	GTC		0.328	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567		11	23	0	0	0	1	0	11	23				
CLEC4F	165530	broad.mit.edu	37	2	71036435	71036435	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:71036435T>C	ENST00000272367.2	-	7	1814	c.1738A>G	c.(1738-1740)Acc>Gcc	p.T580A	CLEC4F_ENST00000426626.1_Intron	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	580	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAGGGAGGGGTGTCTATGAAG	0.542																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2																			0				endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						c.(1738-1740)Acc>Gcc		C-type lectin domain family 4, member F							77.0	72.0	74.0					2																	71036435		2203	4300	6503	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71036435T>C	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1738A>G	2.37:g.71036435T>C	ENSP00000272367:p.Thr580Ala					CLEC4F_ENST00000426626.1_Intron	p.T580A	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN			7	1814	-			580			C-type lectin.		A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.1738A>G	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	T	8.640	0.895814	0.17686	.	.	ENSG00000152672	ENST00000272367	T	0.01613	4.73	1.6	-3.19	0.05171	C-type lectin (2);	.	.	.	.	T	0.01523	0.0049	L	0.41710	1.295	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.45293	-0.9271	9	0.27785	T	0.31	.	3.6904	0.08344	0.0:0.2761:0.4606:0.2633	.	580	Q8N1N0	CLC4F_HUMAN	A	580	ENSP00000272367:T580A	ENSP00000272367:T580A	T	-	1	0	CLEC4F	70889943	0.000000	0.05858	0.000000	0.03702	0.540000	0.34992	-0.624000	0.05540	-1.310000	0.02312	0.254000	0.18369	ACC		0.542	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		16	30	0	0	0	1	0	16	30				
NYAP2	57624	broad.mit.edu	37	2	226446754	226446754	+	Silent	SNP	C	C	T	rs185602343	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:226446754C>T	ENST00000272907.6	+	4	1034	c.621C>T	c.(619-621)ttC>ttT	p.F207F	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	207					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GCACATCTTTCGATGAAACGT	0.567													C|||	4	0.000798722	0.003	0.0	5008	,	,		16747	0.0		0.0	False		,,,				2504	0.0					ENST00000272907.6																			0											c.(619-621)ttC>ttT		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2		C		10,3854		0,10,1922	126.0	131.0	130.0		621	-2.4	0.6	2		130	0,8262		0,0,4131	no	coding-synonymous	KIAA1486	NM_020864.1		0,10,6053	TT,TC,CC		0.0,0.2588,0.0825		207/654	226446754	10,12116	1932	4131	6063	SO:0001819	synonymous_variant	57624							g.chr2:226446754C>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.621C>T	2.37:g.226446754C>T						NYAP2_ENST00000409269.2_Intron	p.F207F	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1034	+			207					A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.621C>T	CCDS46529.1																																																																																				0.567	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		65	225	0	0	0	1	0	65	225				
PIK3R2	5296	broad.mit.edu	37	19	18279334	18279334	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:18279334G>T	ENST00000593731.1	+	14	2346	c.1786G>T	c.(1786-1788)Ggg>Tgg	p.G596W	PIK3R2_ENST00000222254.8_Missense_Mutation_p.G596W			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	596					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	cgagtggctggggattaaaaa	0.572											OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000593731.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(1786-1788)Ggg>Tgg		phosphoinositide-3-kinase, regulatory subunit 2 (beta)							36.0	37.0	37.0					19																	18279334		2203	4300	6503	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18279334G>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1786G>T	19.37:g.18279334G>T	ENSP00000471914:p.Gly596Trp		OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	724	PIK3R2_ENST00000222254.7_Missense_Mutation_p.G596W	p.G596W			O00459	P85B_HUMAN			14	2346	+			596					Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.1786G>T	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334926	0.81801	.	.	ENSG00000105647	ENST00000222254	T	0.33654	1.4	3.5	3.5	0.40072	.	0.124798	0.53938	D	0.000054	T	0.60340	0.2261	M	0.83852	2.665	0.58432	D	0.999999	D	0.67145	0.996	D	0.70716	0.97	T	0.68179	-0.5477	10	0.87932	D	0	-35.0838	13.0432	0.58913	0.0:0.0:1.0:0.0	.	596	O00459	P85B_HUMAN	W	596	ENSP00000222254:G596W	ENSP00000222254:G596W	G	+	1	0	PIK3R2	18140334	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.057000	0.89457	1.913000	0.55393	0.313000	0.20887	GGG		0.572	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		7	24	1	0	5.18039e-06	1	5.29904e-06	7	24				
ASH2L	9070	broad.mit.edu	37	8	37967961	37967961	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:37967961A>G	ENST00000343823.6	+	4	775	c.466A>G	c.(466-468)Acc>Gcc	p.T156A	ASH2L_ENST00000428278.2_Missense_Mutation_p.T62A|ASH2L_ENST00000521652.1_Missense_Mutation_p.T62A|ASH2L_ENST00000250635.7_Missense_Mutation_p.T62A|ASH2L_ENST00000545394.1_Missense_Mutation_p.T17A	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	156	DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CAGTGGGAATACCTATTTCCT	0.423																																						ENST00000343823.6																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19						c.(466-468)Acc>Gcc		ash2 (absent, small, or homeotic)-like (Drosophila)							125.0	112.0	116.0					8																	37967961		2203	4300	6503	SO:0001583	missense	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37967961A>G	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.466A>G	8.37:g.37967961A>G	ENSP00000340896:p.Thr156Ala					ASH2L_ENST00000250635.7_Missense_Mutation_p.T62A|ASH2L_ENST00000545394.1_Missense_Mutation_p.T17A|ASH2L_ENST00000428278.2_Missense_Mutation_p.T62A|ASH2L_ENST00000521652.1_Missense_Mutation_p.T62A	p.T156A	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN			4	775	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	156					A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	c.466A>G	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.852297	0.71719	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000517719;ENST00000545394;ENST00000428278;ENST00000521652	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	L	0.51422	1.61	0.80722	D	1	B;P	0.48407	0.187;0.91	B;P	0.56788	0.082;0.806	T	0.21655	-1.0239	10	0.62326	D	0.03	.	15.8384	0.78818	1.0:0.0:0.0:0.0	.	62;156	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	A	156;62;170;17;62;62	ENSP00000340896:T156A;ENSP00000250635:T62A;ENSP00000428877:T170A;ENSP00000443606:T17A;ENSP00000395310:T62A;ENSP00000430259:T62A	ENSP00000250635:T62A	T	+	1	0	ASH2L	38087118	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.057000	0.93889	2.191000	0.70037	0.533000	0.62120	ACC		0.423	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		21	81	0	0	0	1	0	21	81				
COG7	91949	broad.mit.edu	37	16	23453903	23453903	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:23453903T>C	ENST00000307149.5	-	4	684	c.499A>G	c.(499-501)Aca>Gca	p.T167A	SNORA75_ENST00000391291.1_RNA	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	167					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TAGTCTGGTGTATCAACAAGC	0.443																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(499-501)Aca>Gca		component of oligomeric golgi complex 7							129.0	108.0	115.0					16																	23453903		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23453903T>C	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.499A>G	16.37:g.23453903T>C	ENSP00000305442:p.Thr167Ala						p.T167A	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	4	684	-			167					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.499A>G	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.578765	0.86645	.	.	ENSG00000168434	ENST00000307149	T	0.45276	0.9	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.52224	0.1721	M	0.65498	2.005	0.80722	D	1	P	0.49447	0.924	P	0.50537	0.643	T	0.51076	-0.8751	10	0.35671	T	0.21	-25.7876	15.0343	0.71731	0.0:0.0:0.0:1.0	.	167	P83436	COG7_HUMAN	A	167	ENSP00000305442:T167A	ENSP00000305442:T167A	T	-	1	0	COG7	23361404	1.000000	0.71417	0.808000	0.32385	0.998000	0.95712	8.010000	0.88615	2.146000	0.66826	0.460000	0.39030	ACA		0.443	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			10	107	0	0	0	1	0	10	107				
IRS2	8660	broad.mit.edu	37	13	110436629	110436629	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:110436629G>A	ENST00000375856.3	-	1	2286	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	591					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CGAGGCAGAGGAGGGCTGGGG	0.736																																					Melanoma(100;613 2409 40847)	ENST00000375856.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1771-1773)tCc>tTc		insulin receptor substrate 2							9.0	13.0	12.0					13																	110436629		2162	4264	6426	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110436629G>A	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.1772C>T	13.37:g.110436629G>A	ENSP00000365016:p.Ser591Phe						p.S591F	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	2286	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	591					Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.1772C>T	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735201	0.48939	.	.	ENSG00000185950	ENST00000375856	T	0.19806	2.12	3.9	3.9	0.45041	.	0.000000	0.85682	U	0.000000	T	0.42675	0.1213	M	0.68593	2.085	0.52099	D	0.999947	D	0.71674	0.998	D	0.63488	0.915	T	0.48175	-0.9058	10	0.72032	D	0.01	-17.9434	16.0936	0.81106	0.0:0.0:1.0:0.0	.	591	Q9Y4H2	IRS2_HUMAN	F	591	ENSP00000365016:S591F	ENSP00000365016:S591F	S	-	2	0	IRS2	109234630	1.000000	0.71417	0.990000	0.47175	0.225000	0.24961	7.059000	0.76684	2.002000	0.58637	0.549000	0.68633	TCC		0.736	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		8	24	0	0	0	1	0	8	24				
ADAM19	8728	broad.mit.edu	37	5	156957825	156957825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:156957825G>A	ENST00000517905.1	-	5	441	c.397C>T	c.(397-399)Cga>Tga	p.R133*	ADAM19_ENST00000257527.4_Nonsense_Mutation_p.R133*|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Nonsense_Mutation_p.R135*			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	133			R -> Q (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTAATTCCTCGGCAAGTGCTG	0.557																																						ENST00000257527.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(397-399)Cga>Tga		ADAM metallopeptidase domain 19							106.0	86.0	92.0					5																	156957825		2203	4300	6503	SO:0001587	stop_gained	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156957825G>A	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.397C>T	5.37:g.156957825G>A	ENSP00000428654:p.Arg133*					ADAM19_ENST00000394020.1_Nonsense_Mutation_p.R135*|ADAM19_ENST00000517905.1_Nonsense_Mutation_p.R133*|ADAM19_ENST00000430702.2_5'UTR	p.R133*	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		5	475	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	133		R -> Q (in a colorectal cancer sample; somatic mutation).			Q9BZL5|Q9UHP2	Nonsense_Mutation	SNP	ENST00000517905.1	37	c.397C>T		.	.	.	.	.	.	.	.	.	.	G	36	5.733776	0.96865	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	.	.	.	5.31	3.37	0.38596	.	0.124700	0.38217	N	0.001780	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	11.1473	0.48438	0.0:0.0:0.6713:0.3287	.	.	.	.	X	133;135;133	.	ENSP00000257527:R133X	R	-	1	2	ADAM19	156890403	0.965000	0.33210	1.000000	0.80357	0.976000	0.68499	0.922000	0.28734	1.323000	0.45263	0.655000	0.94253	CGA		0.557	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		23	49	0	0	0	1	0	23	49				
CD244	51744	broad.mit.edu	37	1	160803891	160803891	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:160803891A>G	ENST00000368033.3	-	7	1007	c.925T>C	c.(925-927)Tca>Cca	p.S309P	CD244_ENST00000481677.1_5'UTR|CD244_ENST00000368034.4_Missense_Mutation_p.S304P|CD244_ENST00000322302.7_Missense_Mutation_p.S212P|CD244_ENST00000368032.2_Missense_Mutation_p.S304P			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	309					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGTTCTTGTGACGTGGGAGCA	0.428																																						ENST00000368034.4																			0				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18						c.(910-912)Tca>Cca		CD244 molecule, natural killer cell receptor 2B4							126.0	111.0	116.0					1																	160803891		2203	4300	6503	SO:0001583	missense	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160803891A>G	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.925T>C	1.37:g.160803891A>G	ENSP00000357012:p.Ser309Pro					CD244_ENST00000481677.1_5'UTR|CD244_ENST00000368033.3_Missense_Mutation_p.S309P|CD244_ENST00000322302.7_Missense_Mutation_p.S212P|CD244_ENST00000368032.2_Missense_Mutation_p.S304P	p.S304P	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		7	1087	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		309					Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	ENST00000368033.3	37	c.910T>C	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.457809	0.26161	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302;ENST00000368032	T;T;T;T	0.49720	3.26;2.56;0.77;3.19	3.48	2.32	0.28847	.	4.129950	0.00465	N	0.000116	T	0.41650	0.1168	L	0.34521	1.04	0.09310	N	0.999999	D;P;P	0.89917	1.0;0.653;0.765	D;B;B	0.74674	0.984;0.187;0.346	T	0.34079	-0.9843	10	0.87932	D	0	-25.7388	5.9983	0.19507	0.7701:0.0:0.0:0.2299	.	212;309;304	Q9BZW8-4;Q9BZW8;Q9BZW8-2	.;CD244_HUMAN;.	P	304;309;212;304	ENSP00000357013:S304P;ENSP00000357012:S309P;ENSP00000313619:S212P;ENSP00000357011:S304P	ENSP00000313619:S212P	S	-	1	0	CD244	159070515	0.022000	0.18835	0.073000	0.20177	0.008000	0.06430	0.596000	0.24044	0.679000	0.31345	0.533000	0.62120	TCA		0.428	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		11	58	0	0	0	1	0	11	58				
EBF2	64641	broad.mit.edu	37	8	25715941	25715941	+	Silent	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:25715941G>T	ENST00000520164.1	-	14	1959	c.1422C>A	c.(1420-1422)acC>acA	p.T474T	EBF2_ENST00000535548.1_Silent_p.T205T|EBF2_ENST00000408929.3_Silent_p.T326T	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	474	Pro/Ser/Thr-rich.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TGTTGCTGGAGGTACTGTAAT	0.517																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1420-1422)acC>acA		early B-cell factor 2							167.0	169.0	168.0					8																	25715941		2038	4185	6223	SO:0001819	synonymous_variant	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25715941G>T	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1422C>A	8.37:g.25715941G>T						EBF2_ENST00000408929.3_Silent_p.T326T|EBF2_ENST00000535548.1_Silent_p.T205T	p.T474T	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	14	1959	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	474			Pro/Ser/Thr-rich.		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Silent	SNP	ENST00000520164.1	37	c.1422C>A	CCDS43726.1																																																																																				0.517	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		9	135	1	0	0.000442599	1	0.000448264	9	135				
KRT77	374454	broad.mit.edu	37	12	53097133	53097133	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:53097133C>T	ENST00000341809.3	-	1	114	c.86G>A	c.(85-87)gGt>gAt	p.G29D	KRT77_ENST00000537195.1_De_novo_Start_InFrame	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	29	Head.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CGGACTCCCACCACCAGAGCC	0.542																																						ENST00000341809.3																			0				NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(85-87)gGt>gAt		keratin 77							80.0	86.0	84.0					12																	53097133		2203	4300	6503	SO:0001583	missense	374454					keratin filament	structural molecule activity	g.chr12:53097133C>T	BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20411	protein-coding gene	gene with protein product		611158	"""keratin 1B"""	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.86G>A	12.37:g.53097133C>T	ENSP00000342710:p.Gly29Asp					KRT77_ENST00000537195.1_De_novo_Start_InFrame	p.G29D	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN			1	114	-			29			Head.		Q7RTS8	Missense_Mutation	SNP	ENST00000341809.3	37	c.86G>A	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186547	0.38609	.	.	ENSG00000189182	ENST00000341809	D	0.93953	-3.32	4.63	3.71	0.42584	.	.	.	.	.	D	0.95749	0.8617	M	0.88450	2.955	0.80722	D	1	D	0.64830	0.994	P	0.62089	0.898	D	0.94434	0.7652	9	0.15066	T	0.55	.	10.7489	0.46198	0.1478:0.7096:0.1426:0.0	.	29	Q7Z794	K2C1B_HUMAN	D	29	ENSP00000342710:G29D	ENSP00000342710:G29D	G	-	2	0	KRT77	51383400	0.000000	0.05858	1.000000	0.80357	0.682000	0.39822	0.332000	0.19751	1.263000	0.44181	0.591000	0.81541	GGT		0.542	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078		20	73	0	0	0	1	0	20	73				
POTEA	340441	broad.mit.edu	37	8	43173691	43173691	+	RNA	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:43173691A>T	ENST00000522175.2	+	0	977							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTGATGGTGGATTAGTTCCAC	0.413																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A							153.0	148.0	150.0					8																	43173691		2196	4296	6492			340441							g.chr8:43173691A>T	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43173691A>T										Q6S8J7	POTEA_HUMAN			0	977	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.413	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		13	154	0	0	0	1	0	13	154				
ACTN2	88	broad.mit.edu	37	1	236881176	236881176	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:236881176A>G	ENST00000366578.4	+	2	311	c.145A>G	c.(145-147)Aac>Gac	p.N49D	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.N49D	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	49	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGCCTGGTGTAACTCCCACCT	0.493																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(145-147)Aac>Gac		actinin, alpha 2							140.0	120.0	127.0					1																	236881176		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236881176A>G	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.145A>G	1.37:g.236881176A>G	ENSP00000355537:p.Asn49Asp					ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.N49D	p.N49D	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		2	311	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	49			Actin-binding.|CH 1.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.145A>G	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.978675	0.92982	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.75050	-0.9;-0.9	5.61	5.61	0.85477	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.91580	0.7340	H	0.98314	4.2	0.80722	D	1	D;P	0.89917	1.0;0.92	D;D	0.97110	1.0;0.984	D	0.94595	0.7791	10	0.87932	D	0	.	14.7935	0.69860	1.0:0.0:0.0:0.0	.	49;49	B2RCS5;P35609	.;ACTN2_HUMAN	D	49	ENSP00000443495:N49D;ENSP00000355537:N49D	ENSP00000355537:N49D	N	+	1	0	ACTN2	234947799	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	9.077000	0.94016	2.145000	0.66743	0.528000	0.53228	AAC		0.493	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		14	30	0	0	0	1	0	14	30				
CHMP2B	25978	broad.mit.edu	37	3	87302561	87302561	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:87302561T>A	ENST00000263780.4	+	5	670	c.432T>A	c.(430-432)gaT>gaA	p.D144E	CHMP2B_ENST00000472024.1_3'UTR|CHMP2B_ENST00000494980.1_Missense_Mutation_p.D114E|CHMP2B_ENST00000471660.1_Missense_Mutation_p.D103E	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	144					cell death (GO:0008219)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TAGTCAATGATACACTTGATG	0.368																																						ENST00000263780.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12						c.(430-432)gaT>gaA		charged multivesicular body protein 2B							110.0	103.0	105.0					3																	87302561		2203	4299	6502	SO:0001583	missense	25978				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding	g.chr3:87302561T>A	BC001553	CCDS2918.1, CCDS58840.1	3p12.1	2011-09-21	2011-09-21		ENSG00000083937	ENSG00000083937		"""Charged multivesicular body proteins"""	24537	protein-coding gene	gene with protein product	"""VPS2 homolog B (S. cerevisiae)"""	609512	"""chromatin modifying protein 2B"""			11559748	Standard	NM_014043		Approved	DKFZP564O123, CHMP2.5, VPS2B	uc003dqp.4	Q9UQN3	OTTHUMG00000158982	ENST00000263780.4:c.432T>A	3.37:g.87302561T>A	ENSP00000263780:p.Asp144Glu					CHMP2B_ENST00000494980.1_Missense_Mutation_p.D114E|CHMP2B_ENST00000471660.1_Missense_Mutation_p.D103E|CHMP2B_ENST00000472024.1_3'UTR	p.D144E	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	5	670	+	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	144					B4DJG8|Q53HC7|Q9Y4U6	Missense_Mutation	SNP	ENST00000263780.4	37	c.432T>A	CCDS2918.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.324873	0.41197	.	.	ENSG00000083937	ENST00000471660;ENST00000263780;ENST00000494980	T;T;T	0.72615	-0.67;-0.67;-0.67	5.8	-0.903	0.10534	.	0.000000	0.85682	D	0.000000	T	0.68384	0.2995	M	0.64997	1.995	0.80722	D	1	P;P	0.47677	0.846;0.899	B;P	0.46362	0.405;0.514	T	0.65643	-0.6118	10	0.35671	T	0.21	-30.7909	13.4714	0.61283	0.0:0.2962:0.0:0.7038	.	103;144	B4DJG8;Q9UQN3	.;CHM2B_HUMAN	E	103;144;114	ENSP00000419998:D103E;ENSP00000263780:D144E;ENSP00000418920:D114E	ENSP00000263780:D144E	D	+	3	2	CHMP2B	87385251	1.000000	0.71417	0.972000	0.41901	0.408000	0.30992	1.415000	0.34748	-0.613000	0.05694	-1.162000	0.01777	GAT		0.368	CHMP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352779.2	NM_014043		14	40	0	0	0	1	0	14	40				
VPS18	57617	broad.mit.edu	37	15	41195445	41195445	+	Missense_Mutation	SNP	A	A	T	rs376256351		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:41195445A>T	ENST00000220509.5	+	5	3167	c.2828A>T	c.(2827-2829)gAg>gTg	p.E943V		NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	943					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GTGGCCGCTGAGTGTGTGTAC	0.657																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2827-2829)gAg>gTg		vacuolar protein sorting 18 homolog (S. cerevisiae)		A	VAL/GLU	0,4406		0,0,2203	36.0	40.0	39.0		2828	5.0	1.0	15		39	1,8599	1.2+/-3.3	0,1,4299	no	missense	VPS18	NM_020857.2	121	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	probably-damaging	943/974	41195445	1,13005	2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41195445A>T	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2828A>T	15.37:g.41195445A>T	ENSP00000220509:p.Glu943Val						p.E943V	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	5	3167	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	943					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.2828A>T	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.387520	0.82902	0.0	1.16E-4	ENSG00000104142	ENST00000220509	T	0.53206	0.63	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.73521	0.3597	M	0.90309	3.105	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.80348	-0.1420	10	0.87932	D	0	-26.9215	14.9108	0.70755	1.0:0.0:0.0:0.0	.	943	Q9P253	VPS18_HUMAN	V	943	ENSP00000220509:E943V	ENSP00000220509:E943V	E	+	2	0	VPS18	38982737	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.139000	0.94554	2.119000	0.64992	0.379000	0.24179	GAG		0.657	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			11	23	0	0	0	1	0	11	23				
FAM84B	157638	broad.mit.edu	37	8	127569449	127569449	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:127569449A>G	ENST00000304916.3	-	2	641	c.186T>C	c.(184-186)ggT>ggC	p.G62G	RP11-89K10.1_ENST00000519880.1_RNA|RP11-103H7.5_ENST00000524320.1_RNA|RP11-89K10.1_ENST00000517773.1_RNA|FAM84B_ENST00000517458.1_5'Flank|RP11-89K10.1_ENST00000520512.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	62	Pro-rich.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			GCCCGTCCCCACCGTCGGGCA	0.677																																						ENST00000304916.3																			0				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(184-186)ggT>ggC		family with sequence similarity 84, member B							5.0	6.0	5.0					8																	127569449		1988	3898	5886	SO:0001819	synonymous_variant	157638					cytoplasm|plasma membrane	protein binding	g.chr8:127569449A>G	AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"""breast cancer membrane-associated protein 101"", ""neurological/sensory 2"""	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.186T>C	8.37:g.127569449A>G						RP11-103H7.5_ENST00000524320.1_RNA	p.G62G	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)		2	641	-	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		62			Pro-rich.			Silent	SNP	ENST00000304916.3	37	c.186T>C	CCDS6358.1																																																																																				0.677	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381487.1	NM_174911		8	25	0	0	0	1	0	8	25				
PSG5	5673	broad.mit.edu	37	19	43690520	43690520	+	Missense_Mutation	SNP	A	A	G	rs369515902		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:43690520A>G	ENST00000366175.3	-	1	168	c.38T>C	c.(37-39)aTc>aCc	p.I13T	PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407356.1_Missense_Mutation_p.I13T|PSG5_ENST00000404580.1_Missense_Mutation_p.I13T|PSG5_ENST00000407568.1_Missense_Mutation_p.I13T|PSG5_ENST00000599812.1_Missense_Mutation_p.I13T|PSG5_ENST00000342951.6_Missense_Mutation_p.I13T			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	13					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CTTCCAGGTGATGTGCTGTGT	0.597																																						ENST00000404580.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(37-39)aTc>aCc		pregnancy specific beta-1-glycoprotein 5							100.0	99.0	99.0					19																	43690520		2203	4296	6499	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43690520A>G		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.38T>C	19.37:g.43690520A>G	ENSP00000382334:p.Ile13Thr					PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000599812.1_Missense_Mutation_p.I13T|PSG5_ENST00000407356.1_Missense_Mutation_p.I13T|PSG5_ENST00000366175.3_Missense_Mutation_p.I13T|PSG5_ENST00000407568.1_Missense_Mutation_p.I13T|PSG5_ENST00000342951.6_Missense_Mutation_p.I13T	p.I13T			Q15238	PSG5_HUMAN			1	126	-		Prostate(69;0.00899)	13					Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.38T>C	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	N	11.04	1.521929	0.27211	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.01258	5.31;5.31;5.09;5.31;5.29	1.41	0.262	0.15597	.	.	.	.	.	T	0.02929	0.0087	L	0.33624	1.015	0.09310	N	1	P;B;P	0.51653	0.929;0.007;0.947	P;B;D	0.63033	0.809;0.032;0.91	T	0.48068	-0.9067	9	0.87932	D	0	.	4.1726	0.10336	0.6303:0.3697:0.0:0.0	.	13;13;13	E9PC55;Q15228;Q15238	.;.;PSG5_HUMAN	T	13	ENSP00000382334:I13T;ENSP00000386008:I13T;ENSP00000386053:I13T;ENSP00000344413:I13T;ENSP00000385250:I13T	ENSP00000344413:I13T	I	-	2	0	PSG5	48382360	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	-1.349000	0.02627	0.020000	0.15106	0.155000	0.16302	ATC		0.597	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		57	160	0	0	0	1	0	57	160				
HOXC12	3228	broad.mit.edu	37	12	54348916	54348916	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:54348916A>G	ENST00000243103.3	+	1	299	c.203A>G	c.(202-204)tAc>tGc	p.Y68C	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	68					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						CCGCAGCCCTACCTCGGCAGC	0.701																																						ENST00000243103.3																			0				large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						c.(202-204)tAc>tGc		homeobox C12							21.0	17.0	18.0					12																	54348916		2199	4298	6497	SO:0001583	missense	3228				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54348916A>G	AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"""Homeoboxes / ANTP class : HOXL subclass"""	5124	protein-coding gene	gene with protein product		142975	"""homeo box C12"""	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.203A>G	12.37:g.54348916A>G	ENSP00000243103:p.Tyr68Cys						p.Y68C	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN			1	299	+			68					Q9BXJ6	Missense_Mutation	SNP	ENST00000243103.3	37	c.203A>G	CCDS8866.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.727138	0.69074	.	.	ENSG00000123407	ENST00000243103	D	0.93307	-3.2	2.85	2.85	0.33270	.	0.000000	0.64402	D	0.000003	D	0.96278	0.8786	M	0.86953	2.85	0.58432	D	0.999998	D	0.76494	0.999	D	0.71656	0.974	D	0.96221	0.9160	10	0.87932	D	0	.	10.7784	0.46363	1.0:0.0:0.0:0.0	.	68	P31275	HXC12_HUMAN	C	68	ENSP00000243103:Y68C	ENSP00000243103:Y68C	Y	+	2	0	HOXC12	52635183	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	6.653000	0.74382	1.550000	0.49438	0.374000	0.22700	TAC		0.701	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358868.2	NM_173860		6	31	0	0	0	1	0	6	31				
RASGRF2	5924	broad.mit.edu	37	5	80382759	80382759	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:80382759G>A	ENST00000265080.4	+	9	1444	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	459					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCAGCCAAACGTTCATCCGCC	0.537																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1375-1377)acG>acA		Ras protein-specific guanine nucleotide-releasing factor 2							140.0	123.0	129.0					5																	80382759		2203	4300	6503	SO:0001819	synonymous_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80382759G>A	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1377G>A	5.37:g.80382759G>A						RASGRF2_ENST00000502677.1_3'UTR	p.T459T	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	9	1444	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	459					B9EG89|Q9UK56	Silent	SNP	ENST00000265080.4	37	c.1377G>A	CCDS4052.1																																																																																				0.537	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		30	87	0	0	0	1	0	30	87				
MAGEA8	4107	broad.mit.edu	37	X	149013786	149013786	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:149013786A>G	ENST00000542674.1	+	3	1261	c.740A>G	c.(739-741)aAg>aGg	p.K247R	MAGEA8_ENST00000535454.1_Missense_Mutation_p.K247R|MAGEA8_ENST00000286482.1_Missense_Mutation_p.K247R	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	247	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCTCAGGAAGCTGCTCACC	0.617																																						ENST00000535454.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20						c.(739-741)aAg>aGg		melanoma antigen family A, 8							99.0	90.0	93.0					X																	149013786		2203	4298	6501	SO:0001583	missense	4107							g.chrX:149013786A>G		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.740A>G	X.37:g.149013786A>G	ENSP00000443776:p.Lys247Arg					MAGEA8_ENST00000542674.1_Missense_Mutation_p.K247R|MAGEA8_ENST00000286482.1_Missense_Mutation_p.K247R	p.K247R	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN			4	1289	+	Acute lymphoblastic leukemia(192;6.56e-05)		247			MAGE.		Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	c.740A>G	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	10.87	1.473660	0.26423	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.05786	3.39;3.39;3.39	1.0	1.0	0.19881	.	0.247922	0.45867	N	0.000321	T	0.09247	0.0228	M	0.83774	2.66	0.09310	N	1	B	0.21225	0.053	B	0.25614	0.062	T	0.20140	-1.0284	10	0.54805	T	0.06	.	3.9106	0.09201	1.0:0.0:0.0:0.0	.	247	P43361	MAGA8_HUMAN	R	247	ENSP00000438293:K247R;ENSP00000443776:K247R;ENSP00000286482:K247R	ENSP00000286482:K247R	K	+	2	0	MAGEA8	148774444	0.084000	0.21492	0.268000	0.24571	0.308000	0.27856	1.518000	0.35877	0.636000	0.30508	0.158000	0.16466	AAG		0.617	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		4	128	0	0	0	1	0	4	128				
GIMAP8	155038	broad.mit.edu	37	7	150171146	150171146	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:150171146G>A	ENST00000307271.3	+	4	1303	c.729G>A	c.(727-729)ccG>ccA	p.P243P		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	243						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AGCAGAATCCGGGGACATCAG	0.552																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(727-729)ccG>ccA		GTPase, IMAP family member 8							81.0	84.0	83.0					7																	150171146		2203	4300	6503	SO:0001819	synonymous_variant	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150171146G>A	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.729G>A	7.37:g.150171146G>A							p.P243P	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	4	1303	+			243						Silent	SNP	ENST00000307271.3	37	c.729G>A	CCDS34777.1																																																																																				0.552	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		56	129	0	0	0	1	0	56	129				
UGT1A1	54658	broad.mit.edu	37	2	234669627	234669627	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:234669627A>G	ENST00000608383.1	+	1	694	c.694A>G	c.(694-696)Acc>Gcc	p.T232A	UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.T232A|UGT1A1_ENST00000360418.3_Missense_Mutation_p.T232A|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	232					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CCCGTATGCAACCCTTGCCTC	0.483																																						ENST00000360418.3																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(694-696)Acc>Gcc			Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						169.0	167.0	168.0					2																	234669627		2203	4300	6503	SO:0001583	missense	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669627A>G	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.694A>G	2.37:g.234669627A>G	ENSP00000476741:p.Thr232Ala					UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.T232A	p.T232A			P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	694	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	232					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000608383.1	37	c.694A>G	CCDS2510.1	.	.	.	.	.	.	.	.	.	.	A	3.070	-0.191413	0.06299	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.58358	0.34;0.34	5.76	-11.5	0.00074	.	.	.	.	.	T	0.18130	0.0435	N	0.02708	-0.52	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.16289	0.015;0.007	T	0.45702	-0.9243	9	0.59425	D	0.04	.	0.9042	0.01281	0.2412:0.1414:0.2332:0.3842	.	232;232	A6NJC3;P22309	.;UD11_HUMAN	A	232	ENSP00000304845:T232A;ENSP00000353593:T232A	ENSP00000304845:T232A	T	+	1	0	UGT1A1	234334366	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.505000	0.00963	-4.391000	0.00052	-1.410000	0.01125	ACC		0.483	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				20	188	0	0	0	1	0	20	188				
DDX3Y	8653	broad.mit.edu	37	Y	15016853	15016853	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrY:15016853T>C	ENST00000336079.3	+	1	112	c.6T>C	c.(4-6)agT>agC	p.S2S	DDX3Y_ENST00000360160.4_Silent_p.S2S	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	2						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						CAGGGATGAGTCATGTGGTGG	0.507																																						ENST00000336079.3																			0				kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(4-6)agT>agC		DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked																																				SO:0001819	synonymous_variant	8653					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	g.chrY:15016853T>C	AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"""DEAD-boxes"""	2699	protein-coding gene	gene with protein product		400010	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"""	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.6T>C	Y.37:g.15016853T>C						DDX3Y_ENST00000360160.4_Silent_p.S2S	p.S2S	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN			1	112	+			2					B4DK29|B4DXX7|Q8IYV7	Silent	SNP	ENST00000336079.3	37	c.6T>C	CCDS14782.1																																																																																				0.507	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1	NM_004660		31	26	0	0	0	1	0	31	26				
ARFGEF1	10565	broad.mit.edu	37	8	68179674	68179674	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:68179674A>G	ENST00000262215.3	-	11	1965	c.1576T>C	c.(1576-1578)Ttc>Ctc	p.F526L	ARFGEF1_ENST00000520381.1_5'UTR	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	526					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCTTTAAAGAACACCTGTGAT	0.333																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1576-1578)Ttc>Ctc		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							36.0	41.0	39.0					8																	68179674		2193	4286	6479	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68179674A>G	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.1576T>C	8.37:g.68179674A>G	ENSP00000262215:p.Phe526Leu					ARFGEF1_ENST00000520381.1_5'UTR	p.F526L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		11	1965	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	526					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.1576T>C	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235356	0.79800	.	.	ENSG00000066777	ENST00000262215	T	0.49432	0.78	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71715	-0.4509	10	0.48119	T	0.1	.	15.612	0.76733	1.0:0.0:0.0:0.0	.	526	Q9Y6D6	BIG1_HUMAN	L	526	ENSP00000262215:F526L	ENSP00000262215:F526L	F	-	1	0	ARFGEF1	68342228	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	8.870000	0.92336	2.096000	0.63516	0.454000	0.30748	TTC		0.333	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		24	60	0	0	0	1	0	24	60				
CACNA1I	8911	broad.mit.edu	37	22	40054250	40054250	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:40054250C>T	ENST00000402142.3	+	11	2086	c.2086C>T	c.(2086-2088)Ctc>Ttc	p.L696F	CACNA1I_ENST00000407673.1_Missense_Mutation_p.L661F|CACNA1I_ENST00000401624.1_Missense_Mutation_p.L696F|CACNA1I_ENST00000336649.4_Missense_Mutation_p.L702F|CACNA1I_ENST00000400164.3_Missense_Mutation_p.L661F|CACNA1I_ENST00000404898.1_Missense_Mutation_p.L661F	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	696					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCATTTGGGCTCTTCGACTA	0.572																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(2104-2106)Ctc>Ttc		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						141.0	150.0	147.0					22																	40054250		2118	4247	6365	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40054250C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.2086C>T	22.37:g.40054250C>T	ENSP00000385019:p.Leu696Phe					CACNA1I_ENST00000402142.3_Missense_Mutation_p.L696F|CACNA1I_ENST00000401624.1_Missense_Mutation_p.L696F|CACNA1I_ENST00000400164.3_Missense_Mutation_p.L661F|CACNA1I_ENST00000404898.1_Missense_Mutation_p.L661F|CACNA1I_ENST00000407673.1_Missense_Mutation_p.L661F	p.L702F			Q9P0X4	CAC1I_HUMAN			14	2104	+	Melanoma(58;0.0749)		696					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.2104C>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697773	0.48307	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8;-4.8;-4.8	5.21	5.21	0.72293	Ion transport (1);	0.110848	0.64402	D	0.000007	D	0.94555	0.8246	N	0.05383	-0.06	0.45762	D	0.998651	P;P;P;B	0.40230	0.48;0.708;0.532;0.071	B;B;B;B	0.39590	0.182;0.304;0.239;0.038	D	0.94739	0.7917	10	0.39692	T	0.17	.	18.1056	0.89519	0.0:1.0:0.0:0.0	.	661;696;661;696	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	F	696;661;696;661;702;661	ENSP00000385019:L696F;ENSP00000384093:L661F;ENSP00000383887:L696F;ENSP00000385680:L661F;ENSP00000337829:L702F;ENSP00000383028:L661F	ENSP00000337829:L702F	L	+	1	0	CACNA1I	38384196	0.999000	0.42202	1.000000	0.80357	0.954000	0.61252	3.484000	0.53201	2.579000	0.87056	0.655000	0.94253	CTC		0.572	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		32	86	0	0	0	1	0	32	86				
VDR	7421	broad.mit.edu	37	12	48238538	48238538	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:48238538C>T	ENST00000395324.2	-	10	1543	c.1275G>A	c.(1273-1275)gaG>gaA	p.E425E	VDR_ENST00000535672.1_Silent_p.E393E|VDR_ENST00000550325.1_Silent_p.E475E|VDR_ENST00000229022.3_Silent_p.E425E|VDR_ENST00000549336.1_Silent_p.E425E			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	425	Ligand-binding.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GTCAGGAGATCTCATTGCCAA	0.637																																						ENST00000229022.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22						c.(1273-1275)gaG>gaA		vitamin D (1,25- dihydroxyvitamin D3) receptor	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						80.0	69.0	73.0					12																	48238538		2203	4300	6503	SO:0001819	synonymous_variant	7421				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding	g.chr12:48238538C>T	J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"""Nuclear hormone receptors"""	12679	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 163"""	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.1275G>A	12.37:g.48238538C>T						VDR_ENST00000549336.1_Silent_p.E425E|VDR_ENST00000535672.1_Silent_p.E393E|VDR_ENST00000550325.1_Silent_p.E475E|VDR_ENST00000395324.2_Silent_p.E425E	p.E425E	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN		GBM - Glioblastoma multiforme(48;0.17)	11	1556	-		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)	425			Ligand-binding.		B2R5Q1|G3V1V9|Q5PSV3	Silent	SNP	ENST00000395324.2	37	c.1275G>A	CCDS8757.1																																																																																				0.637	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406433.1			6	105	0	0	0	1	0	6	105				
CD97	976	broad.mit.edu	37	19	14517264	14517264	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:14517264A>C	ENST00000242786.5	+	15	2023	c.1943A>C	c.(1942-1944)cAg>cCg	p.Q648P	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.Q599P|CD97_ENST00000358600.3_Missense_Mutation_p.Q555P	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	648					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TTCCAAGGCCAGGGCCTGAGT	0.652											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1942-1944)cAg>cCg		CD97 molecule							59.0	45.0	50.0					19																	14517264		2200	4295	6495	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14517264A>C		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1943A>C	19.37:g.14517264A>C	ENSP00000242786:p.Gln648Pro		OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	695	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.Q599P|CD97_ENST00000358600.3_Missense_Mutation_p.Q555P	p.Q648P	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			15	2023	+			648					A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.1943A>C	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.652592	0.29336	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.46063	0.88;0.88;0.88	4.77	3.65	0.41850	GPCR, family 2-like (1);	1.608710	0.04543	N	0.388480	T	0.32164	0.0820	N	0.16233	0.39	0.09310	N	0.999999	B;B;B	0.20261	0.043;0.043;0.007	B;B;B	0.21360	0.034;0.034;0.024	T	0.16041	-1.0416	10	0.39692	T	0.17	.	10.727	0.46074	0.8293:0.1707:0.0:0.0	.	555;599;648	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	P	648;599;555;598	ENSP00000242786:Q648P;ENSP00000349918:Q599P;ENSP00000351413:Q555P	ENSP00000242786:Q648P	Q	+	2	0	CD97	14378264	0.294000	0.24380	0.994000	0.49952	0.984000	0.73092	3.251000	0.51453	1.785000	0.52413	0.528000	0.53228	CAG		0.652	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		3	11	0	0	0	1	0	3	11				
RIMS4	140730	broad.mit.edu	37	20	43378792	43378792	+	IGR	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:43378792T>C	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Silent_p.G102G	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CCGCGCCGGGTACGGACTCCG	0.682																																						ENST00000372861.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						c.(304-306)ggT>ggC		potassium channel, subfamily K, member 15							31.0	28.0	29.0					20																	43378792		2203	4300	6503	SO:0001628	intergenic_variant	60598					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr20:43378792T>C		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43378792T>C							p.G102G	NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN			2	437	+		Myeloproliferative disorder(115;0.0122)	102					A4FU94|E1P613|Q3MI44|Q5JWT7	Silent	SNP	ENST00000372851.3	37	c.306T>C	CCDS13338.1																																																																																				0.682	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		13	44	0	0	0	1	0	13	44				
SNX13	23161	broad.mit.edu	37	7	17930068	17930068	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:17930068A>G	ENST00000409389.1	-	5	530	c.358T>C	c.(358-360)Tat>Cat	p.Y120H	SNX13_ENST00000428135.3_Missense_Mutation_p.Y120H|SNX13_ENST00000409604.1_Missense_Mutation_p.Y120H			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	120	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AGTGTATAATACCAATACTGG	0.328																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(358-360)Tat>Cat		sorting nexin 13							93.0	89.0	90.0					7																	17930068		1810	4070	5880	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17930068A>G	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.358T>C	7.37:g.17930068A>G	ENSP00000386705:p.Tyr120His					SNX13_ENST00000428135.3_Missense_Mutation_p.Y120H|SNX13_ENST00000409604.1_Missense_Mutation_p.Y120H	p.Y120H			Q9Y5W8	SNX13_HUMAN			5	530	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		120			PXA.		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.358T>C		.	.	.	.	.	.	.	.	.	.	A	23.2	4.383009	0.82792	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044;ENST00000409604	T;T	0.51817	0.69;0.95	5.93	4.75	0.60458	Phox-associated domain (2);PX-associated, sorting nexin 13 (1);	0.118466	0.64402	D	0.000012	T	0.66896	0.2836	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.977;1.0;1.0;1.0	T	0.69643	-0.5090	10	0.72032	D	0.01	-12.6916	13.205	0.59790	0.8671:0.1329:0.0:0.0	.	120;120;120;120	Q9NSH0;Q9Y5W8;B8ZZT9;Q9Y5W8-2	.;SNX13_HUMAN;.;.	H	120;120;168;120	ENSP00000386705:Y120H;ENSP00000398789:Y120H	ENSP00000242044:Y168H	Y	-	1	0	SNX13	17896593	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.601000	0.90864	1.020000	0.39573	0.533000	0.62120	TAT		0.328	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		17	61	0	0	0	1	0	17	61				
RXRB	6257	broad.mit.edu	37	6	33168031	33168031	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:33168031C>T	ENST00000374680.3	-	1	434	c.223G>A	c.(223-225)Gac>Aac	p.D75N	RXRB_ENST00000413614.2_Silent_p.A61A|RXRB_ENST00000374685.4_Missense_Mutation_p.D75N|SLC39A7_ENST00000374675.3_5'Flank|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374677.3_5'Flank|RXRB_ENST00000544186.1_Intron	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	75	Modulating. {ECO:0000250}.|Pro-rich.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	CGCCCGCTGTCGCCCATCCCG	0.716																																						ENST00000374680.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15						c.(223-225)Gac>Aac		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						14.0	15.0	15.0					6																	33168031		1482	2669	4151	SO:0001583	missense	6257				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr6:33168031C>T	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.223G>A	6.37:g.33168031C>T	ENSP00000363812:p.Asp75Asn					RXRB_ENST00000544186.1_Intron|RXRB_ENST00000374685.4_Missense_Mutation_p.D75N|RXRB_ENST00000413614.2_Silent_p.A61A	p.D75N	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN			1	434	-			75			Modulating (By similarity).|Pro-rich.		P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	c.223G>A	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036480	0.54896	.	.	ENSG00000204231	ENST00000374685;ENST00000374680	D;D	0.92699	-3.09;-3.09	4.98	4.11	0.48088	.	1.759190	0.04618	U	0.401472	T	0.66963	0.2843	N	0.19112	0.55	0.80722	D	1	P;B;B;B	0.48162	0.906;0.4;0.187;0.187	B;B;B;B	0.26770	0.073;0.01;0.004;0.004	T	0.64478	-0.6398	10	0.06757	T	0.87	.	8.9116	0.35557	0.0:0.8989:0.0:0.1011	.	75;75;115;75	B7Z6J2;B7Z6X3;Q59G65;P28702	.;.;.;RXRB_HUMAN	N	75	ENSP00000363817:D75N;ENSP00000363812:D75N	ENSP00000363812:D75N	D	-	1	0	RXRB	33276009	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	3.056000	0.49923	1.316000	0.45131	0.549000	0.68633	GAC		0.716	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		12	18	0	0	0	1	0	12	18				
ZNF398	57541	broad.mit.edu	37	7	148876542	148876542	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:148876542G>A	ENST00000475153.1	+	6	1845	c.1578G>A	c.(1576-1578)ctG>ctA	p.L526L	ZNF398_ENST00000483892.1_Silent_p.L355L|ZNF398_ENST00000335901.4_Silent_p.L355L|ZNF398_ENST00000426851.2_Silent_p.L355L|ZNF398_ENST00000540950.1_Silent_p.L531L|ZNF398_ENST00000420008.2_Silent_p.L355L|ZNF398_ENST00000491174.1_Silent_p.L355L			Q8TD17	ZN398_HUMAN	zinc finger protein 398	526					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			AGGAGCACCTGCTGAACCACC	0.607																																						ENST00000420008.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(1063-1065)ctG>ctA		zinc finger protein 398							70.0	61.0	64.0					7																	148876542		2203	4300	6503	SO:0001819	synonymous_variant	57541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148876542G>A	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1578G>A	7.37:g.148876542G>A						ZNF398_ENST00000475153.1_Silent_p.L526L|ZNF398_ENST00000426851.2_Silent_p.L355L|ZNF398_ENST00000483892.1_Silent_p.L355L|ZNF398_ENST00000335901.4_Silent_p.L355L|ZNF398_ENST00000540950.1_Silent_p.L531L|ZNF398_ENST00000491174.1_Silent_p.L355L	p.L355L	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		6	1853	+	Melanoma(164;0.15)		526					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Silent	SNP	ENST00000475153.1	37	c.1065G>A	CCDS5894.1																																																																																				0.607	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			36	111	0	0	0	1	0	36	111				
CDR2	1039	broad.mit.edu	37	16	22385621	22385621	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:22385621C>T	ENST00000268383.2	-	1	317	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	CDR2_ENST00000569045.1_Intron|RP11-21M24.2_ENST00000568827.1_RNA|RP11-21M24.2_ENST00000567158.1_RNA	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	4						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		ACCAGGTTTTCCGCCAGCATC	0.731																																						ENST00000268383.2																			0				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11						c.(10-12)Gaa>Aaa		cerebellar degeneration-related protein 2, 62kDa							50.0	52.0	51.0					16																	22385621		2197	4300	6497	SO:0001583	missense	1039					nucleus	protein binding	g.chr16:22385621C>T	M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.10G>A	16.37:g.22385621C>T	ENSP00000268383:p.Glu4Lys					CDR2_ENST00000569045.1_Intron	p.E4K	NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN		GBM - Glioblastoma multiforme(48;0.0188)	1	317	-			4					A8K8A8|Q13977	Missense_Mutation	SNP	ENST00000268383.2	37	c.10G>A	CCDS32404.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883717	0.51908	.	.	ENSG00000140743	ENST00000268383	T	0.44881	0.91	4.23	4.23	0.50019	.	0.371705	0.26769	U	0.022581	T	0.31575	0.0801	N	0.22421	0.69	0.25157	N	0.99039	B	0.18310	0.027	B	0.16289	0.015	T	0.19484	-1.0304	10	0.39692	T	0.17	-1.9559	16.6203	0.84928	0.0:1.0:0.0:0.0	.	4	Q01850	CDR2_HUMAN	K	4	ENSP00000268383:E4K	ENSP00000268383:E4K	E	-	1	0	CDR2	22293122	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	4.394000	0.59671	1.899000	0.54978	0.462000	0.41574	GAA		0.731	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430081.1			38	97	0	0	0	1	0	38	97				
SH3TC2	79628	broad.mit.edu	37	5	148431758	148431758	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:148431758A>G	ENST00000515425.1	-	2	199	c.98T>C	c.(97-99)aTa>aCa	p.I33T	SH3TC2_ENST00000512049.1_Missense_Mutation_p.I33T|SH3TC2_ENST00000394358.2_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	33					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATGAGGCTATACACTCACT	0.388																																						ENST00000515425.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(97-99)aTa>aCa		SH3 domain and tetratricopeptide repeats 2							208.0	196.0	200.0					5																	148431758		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148431758A>G	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.98T>C	5.37:g.148431758A>G	ENSP00000423660:p.Ile33Thr					SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.I33T	p.I33T	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	199	-			33					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.98T>C	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	A	1.256	-0.617270	0.03663	.	.	ENSG00000169247	ENST00000515425;ENST00000512049	T;T	0.75260	-0.91;-0.92	5.35	-1.98	0.07480	.	0.762699	0.12049	N	0.504270	T	0.48519	0.1504	N	0.16478	0.41	0.09310	N	0.999998	B;B;B	0.14012	0.0;0.009;0.0	B;B;B	0.10450	0.0;0.005;0.0	T	0.24190	-1.0167	10	0.27785	T	0.31	.	1.1544	0.01793	0.4037:0.2917:0.1635:0.1411	.	33;33;33	Q14CC0;D6RFX2;Q8TF17	.;.;S3TC2_HUMAN	T	33	ENSP00000423660:I33T;ENSP00000421860:I33T	ENSP00000313025:I33T	I	-	2	0	SH3TC2	148411951	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.153000	0.16323	-0.069000	0.12931	-0.316000	0.08728	ATA		0.388	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		4	172	0	0	0	1	0	4	172				
SLC6A9	6536	broad.mit.edu	37	1	44467254	44467254	+	Silent	SNP	A	A	G	rs202228487		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:44467254A>G	ENST00000360584.2	-	9	1418	c.1227T>C	c.(1225-1227)taT>taC	p.Y409Y	SLC6A9_ENST00000372310.3_Silent_p.Y336Y|SLC6A9_ENST00000475075.2_Silent_p.Y225Y|SLC6A9_ENST00000372306.3_Silent_p.Y336Y|SLC6A9_ENST00000372307.3_Silent_p.Y271Y|SLC6A9_ENST00000537678.1_Silent_p.Y271Y|SLC6A9_ENST00000357730.2_Silent_p.Y355Y	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	409					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CGAAGCCAGCATAGACGCTGG	0.587																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(1006-1008)taT>taC		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						179.0	168.0	172.0					1																	44467254		2203	4300	6503	SO:0001819	synonymous_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44467254A>G	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1227T>C	1.37:g.44467254A>G						SLC6A9_ENST00000372306.3_Silent_p.Y336Y|SLC6A9_ENST00000360584.2_Silent_p.Y409Y|SLC6A9_ENST00000475075.2_Silent_p.Y225Y|SLC6A9_ENST00000372307.3_Silent_p.Y271Y|SLC6A9_ENST00000537678.1_Silent_p.Y271Y|SLC6A9_ENST00000357730.2_Silent_p.Y355Y	p.Y336Y	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			9	1173	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	409					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	ENST00000360584.2	37	c.1008T>C	CCDS41317.1																																																																																				0.587	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		6	290	0	0	0	1	0	6	290				
TERF1	7013	broad.mit.edu	37	8	73937154	73937154	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:73937154A>G	ENST00000276603.5	+	5	745	c.722A>G	c.(721-723)aAg>aGg	p.K241R	TERF1_ENST00000276602.6_Missense_Mutation_p.K241R	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	241	TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GAGAAAATTAAGAGTTATGTG	0.303																																						ENST00000276602.6																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(721-723)aAg>aGg		telomeric repeat binding factor (NIMA-interacting) 1							54.0	52.0	53.0					8																	73937154		2198	4278	6476	SO:0001583	missense	7013				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding	g.chr8:73937154A>G	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.722A>G	8.37:g.73937154A>G	ENSP00000276603:p.Lys241Arg					TERF1_ENST00000276603.5_Missense_Mutation_p.K241R	p.K241R	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	Epithelial(68;0.0984)		5	745	+	Breast(64;0.218)		241			TRFH dimerization.		A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	ENST00000276603.5	37	c.722A>G	CCDS6211.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.784122	0.31593	.	.	ENSG00000147601	ENST00000276603;ENST00000276602;ENST00000517390	.	.	.	5.77	4.62	0.57501	Telomere repeat-binding factor, dimerisation domain (4);	0.264982	0.43747	N	0.000529	T	0.46698	0.1406	M	0.63843	1.955	0.34186	D	0.671494	B;B	0.31611	0.331;0.041	B;B	0.28465	0.09;0.025	T	0.58929	-0.7549	9	0.51188	T	0.08	.	8.3918	0.32533	0.9118:0.0:0.0882:0.0	.	241;241	P54274-2;P54274	.;TERF1_HUMAN	R	241;241;137	.	ENSP00000276602:K241R	K	+	2	0	TERF1	74099708	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	3.446000	0.52928	1.024000	0.39682	0.533000	0.62120	AAG		0.303	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489		4	40	0	0	0	1	0	4	40				
NT5DC2	64943	broad.mit.edu	37	3	52562241	52562241	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52562241G>A	ENST00000307076.4	-	6	1018	c.618C>T	c.(616-618)caC>caT	p.H206H	NT5DC2_ENST00000490681.1_5'Flank|NT5DC2_ENST00000307092.4_Silent_p.H147H|NT5DC2_ENST00000459839.1_Silent_p.H218H|NT5DC2_ENST00000422318.2_Silent_p.H243H	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	206							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		ACTCCAGGCTGTGGCCCAGAA	0.587																																						ENST00000307076.4																			0				endometrium(1)|lung(3)|prostate(1)|stomach(1)	6						c.(616-618)caC>caT		5'-nucleotidase domain containing 2							88.0	83.0	84.0					3																	52562241		2203	4300	6503	SO:0001819	synonymous_variant	64943						hydrolase activity|metal ion binding	g.chr3:52562241G>A	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.618C>T	3.37:g.52562241G>A						NT5DC2_ENST00000307092.4_Silent_p.H147H|NT5DC2_ENST00000422318.2_Silent_p.H243H|NT5DC2_ENST00000459839.1_Silent_p.H218H	p.H206H	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	6	1018	-			206					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Silent	SNP	ENST00000307076.4	37	c.618C>T	CCDS2858.1	.	.	.	.	.	.	.	.	.	.	G	5.167	0.216470	0.09810	.	.	ENSG00000168268	ENST00000489316	.	.	.	4.65	-2.53	0.06326	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-31.7412	12.6258	0.56628	0.6177:0.0:0.3823:0.0	.	.	.	.	X	128	.	.	Q	-	1	0	NT5DC2	52537281	0.000000	0.05858	0.943000	0.38184	0.807000	0.45602	-2.402000	0.01047	-0.586000	0.05898	0.313000	0.20887	CAG		0.587	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		30	78	0	0	0	1	0	30	78				
TNFRSF11B	4982	broad.mit.edu	37	8	119945255	119945255	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:119945255G>A	ENST00000297350.4	-	2	693	c.315C>T	c.(313-315)tgC>tgT	p.C105C		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	105					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CCTTGCATTCGCACACGCGGT	0.552																																						ENST00000297350.4																			0				breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25						c.(313-315)tgC>tgT		tumor necrosis factor receptor superfamily, member 11b							78.0	74.0	75.0					8																	119945255		2203	4300	6503	SO:0001819	synonymous_variant	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119945255G>A	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.315C>T	8.37:g.119945255G>A							p.C105C	NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		2	693	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		105					B2R9A8|O60236|Q53FX6|Q9UHP4	Silent	SNP	ENST00000297350.4	37	c.315C>T	CCDS6326.1																																																																																				0.552	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			19	70	0	0	0	1	0	19	70				
ZNF879	345462	broad.mit.edu	37	5	178454545	178454545	+	Silent	SNP	G	G	A	rs568957757		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:178454545G>A	ENST00000444149.2	+	3	293	c.105G>A	c.(103-105)caG>caA	p.Q35Q	ZNF879_ENST00000519896.1_Missense_Mutation_p.E47K	NM_001136116.1	NP_001129588.1	B4DU55	ZN879_HUMAN	zinc finger protein 879	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|pancreas(1)|stomach(1)	7						ACTCTGCCCAGAGAGCCTTGT	0.562																																						ENST00000519896.1																			0				endometrium(3)|kidney(2)|pancreas(1)|stomach(1)	7						c.(139-141)Gag>Aag		zinc finger protein 879							164.0	152.0	156.0					5																	178454545		692	1591	2283	SO:0001819	synonymous_variant	345462				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178454545G>A	AK300504	CCDS47352.1	5q35.3	2013-01-08			ENSG00000234284	ENSG00000234284		"""Zinc fingers, C2H2-type"", ""-"""	37273	protein-coding gene	gene with protein product							Standard	NM_001136116		Approved	DKFZp686E2433	uc003mjt.4	B4DU55	OTTHUMG00000163596	ENST00000444149.2:c.105G>A	5.37:g.178454545G>A						ZNF879_ENST00000444149.2_Silent_p.Q35Q	p.E47K			B4DU55	ZN879_HUMAN			3	275	+			184			KRAB.			Missense_Mutation	SNP	ENST00000444149.2	37	c.139G>A	CCDS47352.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500631	0.26861	.	.	ENSG00000234284	ENST00000519896	.	.	.	3.64	2.76	0.32466	.	.	.	.	.	T	0.43765	0.1262	.	.	.	0.24630	N	0.993621	.	.	.	.	.	.	T	0.34650	-0.9820	5	0.62326	D	0.03	-6.2262	8.8057	0.34936	0.1159:0.0:0.8841:0.0	.	.	.	.	K	47	.	ENSP00000430047:E47K	E	+	1	0	ZNF879	178387151	0.999000	0.42202	0.486000	0.27416	0.542000	0.35054	2.856000	0.48341	0.844000	0.35094	0.491000	0.48974	GAG		0.562	ZNF879-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374447.1	NM_001136116		18	30	0	0	0	1	0	18	30				
SPATA31D5P	347127	broad.mit.edu	37	9	84531732	84531732	+	RNA	SNP	T	T	C	rs535664165		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:84531732T>C	ENST00000527857.1	+	0	1754					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		TGCCCAGAGGTCAGTCCCCAC	0.517																																						ENST00000527857.1																			0																																																			347127							g.chr9:84531732T>C			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84531732T>C								NR_026851.1						0	1754	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.517	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		18	52	0	0	0	1	0	18	52				
OR4C16	219428	broad.mit.edu	37	11	55339883	55339883	+	Missense_Mutation	SNP	G	G	A	rs150706012		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:55339883G>A	ENST00000314634.3	+	1	280	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E94K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTCCTTCAGCGAGTGCATGAT	0.458																																						ENST00000314634.3																			1	Substitution - Missense(1)	p.E94K(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(280-282)Gag>Aag		olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)							259.0	245.0	250.0					11																	55339883		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339883G>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.280G>A	11.37:g.55339883G>A	ENSP00000324913:p.Glu94Lys						p.E94K	NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN			1	280	+		all_epithelial(135;0.0748)	94					Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.280G>A	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	G	9.594	1.126966	0.20959	.	.	ENSG00000181935	ENST00000314634	T	0.03004	4.08	4.98	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.089091	0.49305	D	0.000155	T	0.05456	0.0144	M	0.72353	2.195	0.09310	N	1	P	0.39737	0.685	B	0.34652	0.187	T	0.24512	-1.0158	10	0.72032	D	0.01	.	9.9049	0.41370	0.0:0.1501:0.6946:0.1553	.	94	Q8NGL9	OR4CG_HUMAN	K	94	ENSP00000324913:E94K	ENSP00000324913:E94K	E	+	1	0	OR4C16	55096459	0.009000	0.17119	0.301000	0.25044	0.287000	0.27160	1.677000	0.37576	1.319000	0.45190	0.549000	0.68633	GAG		0.458	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		48	209	0	0	0	1	0	48	209				
TSNARE1	203062	broad.mit.edu	37	8	143425546	143425546	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:143425546A>G	ENST00000307180.3	-	4	643	c.526T>C	c.(526-528)Tac>Cac	p.Y176H	TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Missense_Mutation_p.Y176H|TSNARE1_ENST00000524325.1_Missense_Mutation_p.Y176H	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	176					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGGCGACAGTAGCCCAGCGCA	0.692																																						ENST00000524325.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(526-528)Tac>Cac		t-SNARE domain containing 1							61.0	60.0	61.0					8																	143425546		2203	4300	6503	SO:0001583	missense	203062				vesicle-mediated transport	integral to membrane		g.chr8:143425546A>G			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.526T>C	8.37:g.143425546A>G	ENSP00000303437:p.Tyr176His					TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Missense_Mutation_p.Y176H|TSNARE1_ENST00000307180.3_Missense_Mutation_p.Y176H	p.Y176H			Q96NA8	TSNA1_HUMAN			4	701	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		176					B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	c.526T>C	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.610820	0.46527	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166	T;T;T	0.12465	2.69;2.68;2.69	3.92	-0.0966	0.13636	.	0.000000	0.32002	U	0.006730	T	0.10165	0.0249	L	0.47716	1.5	0.20563	N	0.999886	B;B;B	0.24651	0.108;0.108;0.108	B;B;B	0.22601	0.04;0.04;0.04	T	0.20075	-1.0286	10	0.87932	D	0	-10.4531	4.2041	0.10480	0.6183:0.1756:0.2062:0.0	.	176;176;176	B7ZLB0;Q96NA8;A0AVG3	.;TSNA1_HUMAN;.	H	176	ENSP00000428763:Y176H;ENSP00000303437:Y176H;ENSP00000427770:Y176H	ENSP00000303437:Y176H	Y	-	1	0	TSNARE1	143423453	0.000000	0.05858	0.011000	0.14972	0.422000	0.31414	0.041000	0.13927	-0.209000	0.10156	0.496000	0.49642	TAC		0.692	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		16	149	0	0	0	1	0	16	149				
MYO5A	4644	broad.mit.edu	37	15	52672031	52672031	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:52672031C>T	ENST00000399231.3	-	17	2330	c.2087G>A	c.(2086-2088)gGt>gAt	p.G696D	MYO5A_ENST00000356338.6_Missense_Mutation_p.G696D|MYO5A_ENST00000553916.1_Missense_Mutation_p.G696D|MYO5A_ENST00000399233.2_Missense_Mutation_p.G696D|MYO5A_ENST00000358212.6_Missense_Mutation_p.G696D	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	696	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGAGGGGAAACCGGCCGCACT	0.448																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(2086-2088)gGt>gAt		myosin VA (heavy chain 12, myoxin)							104.0	109.0	108.0					15																	52672031		1943	4140	6083	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52672031C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2087G>A	15.37:g.52672031C>T	ENSP00000382177:p.Gly696Asp					MYO5A_ENST00000553916.1_Missense_Mutation_p.G696D|MYO5A_ENST00000356338.6_Missense_Mutation_p.G696D|MYO5A_ENST00000399233.2_Missense_Mutation_p.G696D|MYO5A_ENST00000358212.6_Missense_Mutation_p.G696D	p.G696D	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	17	2330	-			696			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.2087G>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963279	0.74016	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24	4.99	4.99	0.66335	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.98385	0.9463	H	0.99182	4.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99839	1.1060	10	0.87932	D	0	.	18.6432	0.91402	0.0:1.0:0.0:0.0	.	696;696	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	D	696;230;696;696;696;326;696	ENSP00000382177:G696D;ENSP00000382179:G696D;ENSP00000348693:G696D;ENSP00000350945:G696D;ENSP00000451109:G696D	ENSP00000348693:G696D	G	-	2	0	MYO5A	50459323	1.000000	0.71417	0.253000	0.24343	0.372000	0.29890	7.818000	0.86416	2.464000	0.83262	0.650000	0.86243	GGT		0.448	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		18	136	0	0	0	1	0	18	136				
USP28	57646	broad.mit.edu	37	11	113673937	113673937	+	Silent	SNP	C	C	T	rs201095177		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:113673937C>T	ENST00000003302.4	-	23	2873	c.2805G>A	c.(2803-2805)ggG>ggA	p.G935G	USP28_ENST00000260188.5_Silent_p.G903G|USP28_ENST00000545540.1_Silent_p.G778G|USP28_ENST00000544967.1_Silent_p.G611G	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	935					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CCCGGCGGGGCCCCTTCATCA	0.458													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17300	0.0		0.0	False		,,,				2504	0.0				Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2803-2805)ggG>ggA		ubiquitin specific peptidase 28							61.0	68.0	66.0					11																	113673937		2201	4296	6497	SO:0001819	synonymous_variant	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113673937C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2805G>A	11.37:g.113673937C>T						USP28_ENST00000545540.1_Silent_p.G778G|USP28_ENST00000260188.5_Silent_p.G903G|USP28_ENST00000544967.1_Silent_p.G611G	p.G935G	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	23	2873	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	935					B0YJC0|B0YJC1|Q9P213	Silent	SNP	ENST00000003302.4	37	c.2805G>A	CCDS31680.1																																																																																				0.458	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			7	144	0	0	0	1	0	7	144				
ANPEP	290	broad.mit.edu	37	15	90346715	90346715	+	Silent	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:90346715G>T	ENST00000300060.6	-	9	1774	c.1461C>A	c.(1459-1461)ctC>ctA	p.L487L	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	487	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	ggaagctGGAGAGCATCCTGA	0.667																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(1459-1461)ctC>ctA		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						24.0	23.0	23.0					15																	90346715		2199	4295	6494	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90346715G>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.1461C>A	15.37:g.90346715G>T							p.L487L	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		9	1774	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		487			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.1461C>A	CCDS10356.1																																																																																				0.667	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			6	11	1	0	5.9392e-07	1	6.09457e-07	6	11				
CDC42BPG	55561	broad.mit.edu	37	11	64599131	64599131	+	Silent	SNP	G	G	A	rs202019785		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:64599131G>A	ENST00000342711.5	-	28	3149	c.3150C>T	c.(3148-3150)agC>agT	p.S1050S	CDC42BPG_ENST00000491280.1_5'UTR	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						GCTCCCCCTCGCTCTCTGCCA	0.697											OREG0004016	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G|||	1	0.000199681	0.0	0.0	5008	,	,		19689	0.001		0.0	False		,,,				2504	0.0					ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(3148-3150)agC>agT		CDC42 binding protein kinase gamma (DMPK-like)							24.0	24.0	24.0					11																	64599131		2199	4294	6493	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64599131G>A	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3150C>T	11.37:g.64599131G>A			OREG0004016	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1077	CDC42BPG_ENST00000491280.1_5'UTR	p.S1050S	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			28	3149	-			1050			PH.			Silent	SNP	ENST00000342711.5	37	c.3150C>T	CCDS31601.1																																																																																				0.697	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		9	16	0	0	0	1	0	9	16				
KAT6A	7994	broad.mit.edu	37	8	41798870	41798870	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:41798870A>G	ENST00000396930.3	-	16	3072	c.2529T>C	c.(2527-2529)tcT>tcC	p.S843S	KAT6A_ENST00000265713.2_Silent_p.S843S|KAT6A_ENST00000406337.1_Silent_p.S843S	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	843					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TCAAACGTGTAGAACTGACTG	0.453																																						ENST00000396930.3																			0											c.(2527-2529)tcT>tcC		K(lysine) acetyltransferase 6A							87.0	85.0	86.0					8																	41798870		2203	4300	6503	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798870A>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2529T>C	8.37:g.41798870A>G						KAT6A_ENST00000406337.1_Silent_p.S843S|KAT6A_ENST00000265713.2_Silent_p.S843S	p.S843S	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			16	3072	-			843					Q76L81	Silent	SNP	ENST00000396930.3	37	c.2529T>C	CCDS6124.1																																																																																				0.453	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		23	77	0	0	0	1	0	23	77				
GCN1L1	10985	broad.mit.edu	37	12	120594296	120594296	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:120594296G>A	ENST00000300648.6	-	28	3293	c.3281C>T	c.(3280-3282)cCg>cTg	p.P1094L	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1094					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGGCACACGGGGACTGCAA	0.597																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(3280-3282)cCg>cTg		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							50.0	57.0	55.0					12																	120594296		2182	4274	6456	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120594296G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.3281C>T	12.37:g.120594296G>A	ENSP00000300648:p.Pro1094Leu						p.P1094L	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			28	3293	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1094					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.3281C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544708	0.86022	.	.	ENSG00000089154	ENST00000300648	T	0.41400	1.0	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.163971	0.56097	D	0.000032	T	0.41050	0.1142	L	0.61218	1.895	0.80722	D	1	D	0.54601	0.967	B	0.33960	0.173	T	0.50533	-0.8817	10	0.56958	D	0.05	.	20.6282	0.99521	0.0:0.0:1.0:0.0	.	1094	Q92616	GCN1L_HUMAN	L	1094	ENSP00000300648:P1094L	ENSP00000300648:P1094L	P	-	2	0	GCN1L1	119078679	1.000000	0.71417	0.984000	0.44739	0.960000	0.62799	7.327000	0.79147	2.871000	0.98454	0.655000	0.94253	CCG		0.597	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			5	85	0	0	0	1	0	5	85				
ARHGAP1	392	broad.mit.edu	37	11	46700995	46700995	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:46700995G>A	ENST00000311956.4	-	12	1148	c.1051C>T	c.(1051-1053)Cca>Tca	p.P351S		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	351	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		AGTGTCGCTGGCACCCTCTGG	0.597																																						ENST00000311956.4																			0				endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1051-1053)Cca>Tca		Rho GTPase activating protein 1							63.0	65.0	64.0					11																	46700995		2201	4299	6500	SO:0001583	missense	392				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity	g.chr11:46700995G>A	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"""Rho GTPase activating proteins"""	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.1051C>T	11.37:g.46700995G>A	ENSP00000310491:p.Pro351Ser						p.P351S	NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)	12	1148	-		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)	351			Rho-GAP.		D3DQQ6	Missense_Mutation	SNP	ENST00000311956.4	37	c.1051C>T	CCDS7922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.755|7.755	0.704102|0.704102	0.15172|0.15172	.|.	.|.	ENSG00000175220|ENSG00000175220	ENST00000528837|ENST00000311956;ENST00000443332	.|T	.|0.16597	.|2.33	5.55|5.55	3.7|3.7	0.42460|0.42460	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|1.101780	.|0.06796	.|N	.|0.787896	T|T	0.06690|0.06690	0.0171|0.0171	N|N	0.01289|0.01289	-0.905|-0.905	0.26989|0.26989	N|N	0.965178|0.965178	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.29058|0.29058	-1.0024|-1.0024	5|10	.|0.09590	.|T	.|0.72	.|.	11.3752|11.3752	0.49724|0.49724	0.0:0.8038:0.1279:0.0683|0.0:0.8038:0.1279:0.0683	.|.	.|351	.|Q07960	.|RHG01_HUMAN	V|S	304|351	.|ENSP00000310491:P351S	.|ENSP00000310491:P351S	A|P	-|-	2|1	0|0	ARHGAP1|ARHGAP1	46657571|46657571	0.980000|0.980000	0.34600|0.34600	0.903000|0.903000	0.35520|0.35520	0.522000|0.522000	0.34438|0.34438	1.283000|1.283000	0.33237|0.33237	0.737000|0.737000	0.32582|0.32582	-0.234000|-0.234000	0.12200|0.12200	GCC|CCA		0.597	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		23	65	0	0	0	1	0	23	65				
MUC16	94025	broad.mit.edu	37	19	9073349	9073349	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:9073349T>C	ENST00000397910.4	-	3	14300	c.14097A>G	c.(14095-14097)tcA>tcG	p.S4699S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4701	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTCCAAGGTTGATGTGTCTA	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(14095-14097)tcA>tcG		mucin 16, cell surface associated							180.0	169.0	172.0					19																	9073349		1949	4155	6104	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073349T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14097A>G	19.37:g.9073349T>C							p.S4699S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	14300	-			4701			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.14097A>G	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		19	207	0	0	0	1	0	19	207				
ACTL7A	10881	broad.mit.edu	37	9	111625709	111625709	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:111625709C>T	ENST00000333999.3	+	1	1107	c.1107C>T	c.(1105-1107)ggC>ggT	p.G369G		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	369						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGCTCAGTGGCTTCCCTAACC	0.582																																					Esophageal Squamous(177;1480 3591 17554)	ENST00000333999.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1105-1107)ggC>ggT		actin-like 7A							119.0	98.0	105.0					9																	111625709		2203	4300	6503	SO:0001819	synonymous_variant	10881					cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton	g.chr9:111625709C>T	BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.1107C>T	9.37:g.111625709C>T							p.G369G	NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN			1	1107	+			369					B2RC83|Q5JSV0	Silent	SNP	ENST00000333999.3	37	c.1107C>T	CCDS6772.1																																																																																				0.582	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	NM_006687		6	105	0	0	0	1	0	6	105				
KBTBD8	84541	broad.mit.edu	37	3	67058494	67058494	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:67058494T>C	ENST00000417314.2	+	4	1540	c.1491T>C	c.(1489-1491)ttT>ttC	p.F497F	KBTBD8_ENST00000295568.4_Silent_p.F471F|KBTBD8_ENST00000460576.1_Silent_p.F55F			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	497						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AACGTATGTTTACTGTAGAAG	0.403																																						ENST00000295568.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1411-1413)ttT>ttC		kelch repeat and BTB (POZ) domain containing 8							119.0	120.0	120.0					3																	67058494		2203	4300	6503	SO:0001819	synonymous_variant	84541							g.chr3:67058494T>C	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1491T>C	3.37:g.67058494T>C						KBTBD8_ENST00000460576.1_Silent_p.F55F|KBTBD8_ENST00000417314.2_Silent_p.F497F	p.F471F	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	4	1544	+		Lung NSC(201;0.0765)	497					B4DTW6|Q96JI5	Silent	SNP	ENST00000417314.2	37	c.1413T>C	CCDS2906.2																																																																																				0.403	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		16	115	0	0	0	1	0	16	115				
MT1A	4489	broad.mit.edu	37	16	56672672	56672672	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:56672672G>A	ENST00000290705.8	+	1	95	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	MT1JP_ENST00000564564.1_RNA	NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN	metallothionein 1A	8	Beta.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)	3					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTGCTCCTGCGCCACTGGTAA	0.537																																						ENST00000290705.8																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(22-24)Gcc>Acc		metallothionein 1A							127.0	111.0	117.0					16																	56672672		2198	4300	6498	SO:0001583	missense	4489					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding	g.chr16:56672672G>A	BC029475	CCDS32454.1	16q13	2012-10-02	2007-03-02			ENSG00000205362		"""Metallothioneins"""	7393	protein-coding gene	gene with protein product		156350	"""metallothionein 1S"""	MT1, MT1S		6089206, 6327055	Standard	NM_005946		Approved		uc002ejq.3	P04731		ENST00000290705.8:c.22G>A	16.37:g.56672672G>A	ENSP00000290705:p.Ala8Thr						p.A8T	NM_005946.2	NP_005937.2	P04731	MT1A_HUMAN			1	95	+			8			Beta.		Q86YX5	Missense_Mutation	SNP	ENST00000290705.8	37	c.22G>A	CCDS32454.1	.	.	.	.	.	.	.	.	.	.	G	9.306	1.054232	0.19907	.	.	ENSG00000205362	ENST00000290705	T	0.10192	2.9	2.69	-1.2	0.09554	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.237885	0.25442	U	0.030643	T	0.04543	0.0124	.	.	.	0.09310	N	1	P	0.38473	0.633	B	0.35240	0.198	T	0.42916	-0.9423	9	0.17369	T	0.5	.	4.9031	0.13784	0.0:0.1987:0.3607:0.4405	.	8	P04731	MT1A_HUMAN	T	8	ENSP00000290705:A8T	ENSP00000290705:A8T	A	+	1	0	MT1A	55230173	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	-2.114000	0.01329	-0.366000	0.08064	-0.540000	0.04249	GCC		0.537	MT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434324.1	NM_005946		39	143	0	0	0	1	0	39	143				
NCOR1	9611	broad.mit.edu	37	17	15935734	15935734	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:15935734G>A	ENST00000268712.3	-	46	7456	c.7199C>T	c.(7198-7200)cCg>cTg	p.P2400L	NCOR1_ENST00000395857.3_Missense_Mutation_p.P984L|NCOR1_ENST00000395851.1_Missense_Mutation_p.P2297L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2400	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACATGCAATCGGTGTTGGTGG	0.507																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(7198-7200)cCg>cTg		nuclear receptor corepressor 1							132.0	117.0	122.0					17																	15935734		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15935734G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.7199C>T	17.37:g.15935734G>A	ENSP00000268712:p.Pro2400Leu					NCOR1_ENST00000395851.1_Missense_Mutation_p.P2297L|NCOR1_ENST00000395857.3_Missense_Mutation_p.P984L	p.P2400L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	46	7456	-			2400			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.7199C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626712	0.46840	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.50277	0.75;1.36;0.8	5.86	4.88	0.63580	.	0.204155	0.53938	D	0.000047	T	0.55194	0.1905	L	0.50333	1.59	0.29180	N	0.876589	P;B;D;P;P	0.69078	0.776;0.059;0.997;0.6;0.938	B;B;P;B;B	0.52909	0.049;0.01;0.713;0.115;0.245	T	0.58662	-0.7597	10	0.87932	D	0	-1.566	15.7143	0.77655	0.0:0.0:0.8629:0.1371	.	2303;2400;2297;919;413	E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;NCOR1_HUMAN;.;.;.	L	2400;2297;2303;984	ENSP00000268712:P2400L;ENSP00000379192:P2297L;ENSP00000379198:P984L	ENSP00000268712:P2400L	P	-	2	0	NCOR1	15876459	1.000000	0.71417	0.003000	0.11579	0.986000	0.74619	7.940000	0.87693	1.455000	0.47813	0.655000	0.94253	CCG		0.507	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		4	136	0	0	0	1	0	4	136				
ANKRD30B	374860	broad.mit.edu	37	18	14763990	14763990	+	Missense_Mutation	SNP	G	G	A	rs200021815		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:14763990G>A	ENST00000358984.4	+	7	1306	c.1126G>A	c.(1126-1128)Gca>Aca	p.A376T	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.A376T|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	376										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGAATGCGTGGCAGGAGTAAC	0.353																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1126-1128)Gca>Aca		ankyrin repeat domain 30B							40.0	34.0	36.0					18																	14763990		692	1591	2283	SO:0001583	missense	374860							g.chr18:14763990G>A	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1126G>A	18.37:g.14763990G>A	ENSP00000351875:p.Ala376Thr					ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.A376T	p.A376T	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			7	1306	+			376					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1126G>A	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	10.58	1.390648	0.25118	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.37058	1.23;1.22	0.217	0.217	0.15264	.	.	.	.	.	T	0.44180	0.1281	L	0.47716	1.5	0.09310	N	1	D	0.60575	0.988	P	0.62885	0.908	T	0.26467	-1.0102	8	0.39692	T	0.17	.	.	.	.	.	376	F8WAG3	.	T	376	ENSP00000351875:A376T;ENSP00000399031:A376T	ENSP00000351875:A376T	A	+	1	0	ANKRD30B	14753990	0.002000	0.14202	0.021000	0.16686	0.021000	0.10359	0.559000	0.23485	0.292000	0.22492	0.297000	0.19635	GCA		0.353	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		7	26	0	0	0	1	0	7	26				
STRN3	29966	broad.mit.edu	37	14	31420119	31420119	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:31420119T>C	ENST00000357479.5	-	4	688	c.492A>G	c.(490-492)gcA>gcG	p.A164A	STRN3_ENST00000355683.5_Silent_p.A164A	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	164					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TATTCTGAGGTGCTGTGGGAG	0.348																																						ENST00000355683.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(490-492)gcA>gcG		striatin, calmodulin binding protein 3							128.0	124.0	125.0					14																	31420119		2203	4300	6503	SO:0001819	synonymous_variant	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31420119T>C		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.492A>G	14.37:g.31420119T>C						STRN3_ENST00000357479.5_Silent_p.A164A	p.A164A	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	4	707	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		164					A2RTX7|A6NHZ7|Q9NRA5	Silent	SNP	ENST00000357479.5	37	c.492A>G	CCDS41938.1																																																																																				0.348	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		24	91	0	0	0	1	0	24	91				
H2AFY	9555	broad.mit.edu	37	5	134705782	134705782	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:134705782G>A	ENST00000511689.1	-	3	816	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	H2AFY_ENST00000312469.4_Missense_Mutation_p.R75W|H2AFY_ENST00000304332.4_Missense_Mutation_p.R75W|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000510038.1_Missense_Mutation_p.R75W	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	75	Histone H2A.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGTGACCCGTCCCTTCTTG	0.562																																						ENST00000511689.1																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(223-225)Cgg>Tgg		H2A histone family, member Y							95.0	76.0	83.0					5																	134705782		2203	4300	6503	SO:0001583	missense	9555				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr5:134705782G>A	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.223C>T	5.37:g.134705782G>A	ENSP00000423563:p.Arg75Trp					H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000510038.1_Missense_Mutation_p.R75W|H2AFY_ENST00000304332.4_Missense_Mutation_p.R75W|H2AFY_ENST00000312469.4_Missense_Mutation_p.R75W	p.R75W	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	816	-			75			Histone H2A.		O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Missense_Mutation	SNP	ENST00000511689.1	37	c.223C>T	CCDS4185.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500259	0.85176	.	.	ENSG00000113648	ENST00000511689;ENST00000304332;ENST00000312469;ENST00000510038	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	6.06	4.1	0.47936	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.85682	D	0.000000	D	0.90851	0.7126	H	0.99909	4.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.998;0.999	D	0.95748	0.8789	10	0.87932	D	0	.	16.9402	0.86216	0.0:0.0:0.756:0.244	.	75;75;75	O75367-3;O75367-2;O75367	.;.;H2AY_HUMAN	W	75	ENSP00000423563:R75W;ENSP00000302572:R75W;ENSP00000310169:R75W;ENSP00000424971:R75W	ENSP00000302572:R75W	R	-	1	2	H2AFY	134733681	1.000000	0.71417	0.953000	0.39169	0.992000	0.81027	3.815000	0.55651	1.560000	0.49568	0.655000	0.94253	CGG		0.562	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893		8	28	0	0	0	1	0	8	28				
POFUT1	23509	broad.mit.edu	37	20	30797914	30797914	+	Silent	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:30797914G>T	ENST00000375749.3	+	2	227	c.165G>T	c.(163-165)ctG>ctT	p.L55L	POFUT1_ENST00000539210.1_Intron|PLAGL2_ENST00000246229.4_5'Flank|POFUT1_ENST00000486717.1_Intron|POFUT1_ENST00000375730.3_Silent_p.L55L	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	55					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGGGCTCTCTGGCATTTGCAA	0.552																																						ENST00000375749.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6						c.(163-165)ctG>ctT		protein O-fucosyltransferase 1							217.0	179.0	192.0					20																	30797914		2203	4300	6503	SO:0001819	synonymous_variant	23509				fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity	g.chr20:30797914G>T	AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"""Fucosyltransferases"""	14988	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 1"""	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.165G>T	20.37:g.30797914G>T						POFUT1_ENST00000375730.3_Silent_p.L55L|POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000486717.1_Intron	p.L55L	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	227	+			55					A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Silent	SNP	ENST00000375749.3	37	c.165G>T	CCDS13198.1																																																																																				0.552	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078613.1	NM_015352		50	154	1	0	1.07234e-20	1	1.13075e-20	50	154				
TPM3P9	147804	broad.mit.edu	37	19	53945669	53945669	+	RNA	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:53945669G>A	ENST00000424846.3	+	0	666				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		AGACAAATGTGAGGAAGAGAT	0.448																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53945669G>A			19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53945669G>A						TPM3P9_ENST00000424846.3_RNA				Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	55	+									RNA	SNP	ENST00000424846.3	37																																																																																						0.448	TPM3P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347070.1	NR_003148		29	66	0	0	0	1	0	29	66				
PIK3C3	5289	broad.mit.edu	37	18	39617741	39617741	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:39617741G>A	ENST00000262039.4	+	17	2011	c.1925G>A	c.(1924-1926)cGt>cAt	p.R642H	PIK3C3_ENST00000589056.1_5'UTR|PIK3C3_ENST00000587402.1_5'UTR|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R579H|PIK3C3_ENST00000593098.1_Missense_Mutation_p.R127H	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	642	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|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)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GATGATTTACGTCAAGATCAA	0.368										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	ENST00000262039.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						c.(1924-1926)cGt>cAt		phosphatidylinositol 3-kinase, catalytic subunit type 3							192.0	177.0	182.0					18																	39617741		2203	4300	6503	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39617741G>A	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1925G>A	18.37:g.39617741G>A	ENSP00000262039:p.Arg642His	TSP Lung(28;0.18)				PIK3C3_ENST00000587402.1_5'UTR|PIK3C3_ENST00000593098.1_Missense_Mutation_p.R127H|PIK3C3_ENST00000589056.1_5'UTR|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R579H	p.R642H	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN			17	2011	+			642			PI3K/PI4K.		Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.1925G>A	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	34	5.303609	0.95601	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.87887	-2.31;-2.31	5.91	5.91	0.95273	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	H	0.96333	3.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96673	0.9498	9	.	.	.	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	579;579;642	A8MYT4;B4DPV9;Q8NEB9	.;.;PK3C3_HUMAN	H	642;579	ENSP00000262039:R642H;ENSP00000381845:R579H	.	R	+	2	0	PIK3C3	37871739	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.405000	0.97313	2.813000	0.96785	0.655000	0.94253	CGT		0.368	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		53	169	0	0	0	1	0	53	169				
CD200R1	131450	broad.mit.edu	37	3	112648188	112648188	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:112648188A>G	ENST00000471858.1	-	3	532	c.300T>C	c.(298-300)tgT>tgC	p.C100C	CD200R1_ENST00000295863.4_Silent_p.C78C|CD200R1_ENST00000490004.1_Silent_p.C100C|CD200R1_ENST00000440122.2_Silent_p.C123C|CD200R1_ENST00000308611.3_Silent_p.C123C	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	100	Ig-like V-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TCTCATCAGTACAGTTGGTTT	0.433																																						ENST00000471858.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						c.(298-300)tgT>tgC		CD200 receptor 1							190.0	181.0	184.0					3																	112648188		2203	4300	6503	SO:0001819	synonymous_variant	131450				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr3:112648188A>G	AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.300T>C	3.37:g.112648188A>G						CD200R1_ENST00000490004.1_Silent_p.C100C|CD200R1_ENST00000295863.4_Silent_p.C78C|CD200R1_ENST00000308611.3_Silent_p.C123C|CD200R1_ENST00000440122.2_Silent_p.C123C	p.C100C	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN			3	532	-			100			Ig-like V-type.		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Silent	SNP	ENST00000471858.1	37	c.300T>C	CCDS2970.1																																																																																				0.433	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806		37	101	0	0	0	1	0	37	101				
DCC	1630	broad.mit.edu	37	18	50918137	50918137	+	Silent	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:50918137C>A	ENST00000442544.2	+	17	3184	c.2568C>A	c.(2566-2568)acC>acA	p.T856T	DCC_ENST00000581580.1_Silent_p.T491T|DCC_ENST00000412726.1_Silent_p.T684T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	856	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGCTCTTACCCATGATGCTG	0.527																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(2566-2568)acC>acA		deleted in colorectal carcinoma							143.0	130.0	134.0					18																	50918137		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50918137C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2568C>A	18.37:g.50918137C>A						DCC_ENST00000581580.1_Silent_p.T491T|DCC_ENST00000412726.1_Silent_p.T684T	p.T856T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	17	3184	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	856			Fibronectin type-III 5.			Silent	SNP	ENST00000442544.2	37	c.2568C>A	CCDS11952.1																																																																																				0.527	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		35	121	1	0	3.21399e-22	1	3.39778e-22	35	121				
SLC18A3	6572	broad.mit.edu	37	10	50819857	50819857	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:50819857G>T	ENST00000374115.3	+	1	1511	c.1071G>T	c.(1069-1071)tgG>tgT	p.W357C	CHAT_ENST00000339797.1_Intron|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	357					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						ACCTGCAGTGGCTGTACGGCG	0.692																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(1069-1071)tgG>tgT		solute carrier family 18 (vesicular acetylcholine transporter), member 3							47.0	49.0	48.0					10																	50819857		2202	4293	6495	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819857G>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1071G>T	10.37:g.50819857G>T	ENSP00000363229:p.Trp357Cys					CHAT_ENST00000339797.1_Intron	p.W357C	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	1511	+			357					B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.1071G>T	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071802	0.76301	.	.	ENSG00000187714	ENST00000374115	T	0.80738	-1.41	5.16	5.16	0.70880	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000002	D	0.92338	0.7569	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94110	0.7370	10	0.87932	D	0	-10.6439	18.6285	0.91350	0.0:0.0:1.0:0.0	.	357	Q16572	VACHT_HUMAN	C	357	ENSP00000363229:W357C	ENSP00000363229:W357C	W	+	3	0	SLC18A3	50489863	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.817000	0.99352	2.412000	0.81896	0.561000	0.74099	TGG		0.692	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		37	108	1	0	2.19358e-23	1	2.3201e-23	37	108				
DPP9	91039	broad.mit.edu	37	19	4683620	4683620	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:4683620G>T	ENST00000598800.1	-	20	2618	c.2113C>A	c.(2113-2115)Cag>Aag	p.Q705K	DPP9_ENST00000601173.1_5'UTR|DPP9_ENST00000594671.1_Missense_Mutation_p.Q705K|DPP9_ENST00000262960.9_Missense_Mutation_p.Q734K|AC005594.3_ENST00000381796.1_RNA			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	705						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CCCTCCACCTGGTCCTCGATC	0.627																																						ENST00000262960.9																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2200-2202)Cag>Aag		dipeptidyl-peptidase 9							71.0	82.0	78.0					19																	4683620		2100	4199	6299	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4683620G>T	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.2113C>A	19.37:g.4683620G>T	ENSP00000469603:p.Gln705Lys					DPP9_ENST00000598800.1_Missense_Mutation_p.Q705K|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000601173.1_5'UTR|DPP9_ENST00000594671.1_Missense_Mutation_p.Q705K	p.Q734K	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	19	2477	-		Hepatocellular(1079;0.137)	705					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.2200C>A		.	.	.	.	.	.	.	.	.	.	G	25.3	4.622085	0.87460	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.32515	1.45	4.0	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.68274	0.2983	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.81282	-0.1003	10	0.87932	D	0	-32.6373	15.3398	0.74287	0.0:0.0:1.0:0.0	.	734	Q1ZZB8	.	K	813;675;734	ENSP00000262960:Q734K	ENSP00000262960:Q734K	Q	-	1	0	DPP9	4634620	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.575000	0.98187	2.092000	0.63282	0.456000	0.33151	CAG		0.627	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			4	110	1	0	0.150653	1	0.150988	4	110				
LOXL2	4017	broad.mit.edu	37	8	23156368	23156368	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:23156368C>T	ENST00000389131.3	-	13	2595	c.2226G>A	c.(2224-2226)tgG>tgA	p.W742*		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	742	Lysyl-oxidase like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AGTTGTACATCCAGATGCGGT	0.542																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2224-2226)tgG>tgA		lysyl oxidase-like 2							80.0	78.0	79.0					8																	23156368		2203	4300	6503	SO:0001587	stop_gained	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23156368C>T	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.2226G>A	8.37:g.23156368C>T	ENSP00000373783:p.Trp742*						p.W742*	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	13	2595	-		Prostate(55;0.0453)|Breast(100;0.143)	742			Lysyl-oxidase like.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Nonsense_Mutation	SNP	ENST00000389131.3	37	c.2226G>A	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	43	9.879733	0.99286	.	.	ENSG00000134013	ENST00000389131	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8523	0.85996	0.0:1.0:0.0:0.0	.	.	.	.	X	742	.	ENSP00000373783:W742X	W	-	3	0	LOXL2	23212313	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.695000	0.84257	2.392000	0.81423	0.561000	0.74099	TGG		0.542	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			21	141	0	0	0	1	0	21	141				
TOX	9760	broad.mit.edu	37	8	59851965	59851965	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:59851965T>C	ENST00000361421.1	-	3	527	c.307A>G	c.(307-309)Aat>Gat	p.N103D		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	103						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				AGCAGGCCATTATGGTTCATG	0.483																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(307-309)Aat>Gat		thymocyte selection-associated high mobility group box							146.0	129.0	135.0					8																	59851965		2203	4300	6503	SO:0001583	missense	9760					nucleus	DNA binding	g.chr8:59851965T>C		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.307A>G	8.37:g.59851965T>C	ENSP00000354842:p.Asn103Asp						p.N103D	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			3	527	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	103					Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	c.307A>G	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.316840	0.81469	.	.	ENSG00000198846	ENST00000361421	T	0.40756	1.02	5.62	5.62	0.85841	.	0.117225	0.64402	D	0.000018	T	0.58906	0.2155	L	0.53249	1.67	0.54753	D	0.999989	D	0.63880	0.993	D	0.68192	0.956	T	0.56721	-0.7932	9	.	.	.	.	15.8247	0.78690	0.0:0.0:0.0:1.0	.	103	O94900	TOX_HUMAN	D	103	ENSP00000354842:N103D	.	N	-	1	0	TOX	60014519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.657000	0.74402	2.151000	0.67156	0.482000	0.46254	AAT		0.483	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		24	120	0	0	0	1	0	24	120				
TMEM2	23670	broad.mit.edu	37	9	74360281	74360281	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:74360281T>C	ENST00000377044.4	-	4	1226	c.687A>G	c.(685-687)acA>acG	p.T229T	TMEM2_ENST00000377066.5_Silent_p.T229T	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	229	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GTAACTCCAGTGTCCCGCCAG	0.473																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(685-687)acA>acG		transmembrane protein 2							120.0	106.0	111.0					9																	74360281		2203	4300	6503	SO:0001819	synonymous_variant	23670					integral to membrane		g.chr9:74360281T>C		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.687A>G	9.37:g.74360281T>C						TMEM2_ENST00000377066.5_Silent_p.T229T	p.T229T	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	4	1226	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	229			G8.		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Silent	SNP	ENST00000377044.4	37	c.687A>G	CCDS6638.1																																																																																				0.473	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		7	124	0	0	0	1	0	7	124				
ANKRD11	29123	broad.mit.edu	37	16	89346399	89346399	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:89346399G>A	ENST00000301030.4	-	9	7011	c.6551C>T	c.(6550-6552)gCt>gTt	p.A2184V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A2184V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2184	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGGCTCCTCAGCCACTACGGT	0.647																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(6550-6552)gCt>gTt		ankyrin repeat domain 11							16.0	19.0	18.0					16																	89346399		2087	4083	6170	SO:0001583	missense	29123					nucleus		g.chr16:89346399G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.6551C>T	16.37:g.89346399G>A	ENSP00000301030:p.Ala2184Val					ANKRD11_ENST00000378330.2_Missense_Mutation_p.A2184V	p.A2184V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	7011	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2184			Pro-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.6551C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	g	19.89	3.911002	0.72983	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.41400	1.0;1.0	5.44	5.44	0.79542	.	0.850135	0.10263	N	0.695680	T	0.41581	0.1165	L	0.57536	1.79	0.24716	N	0.993179	B	0.12013	0.005	B	0.06405	0.002	T	0.18493	-1.0335	10	0.35671	T	0.21	.	11.5486	0.50708	0.0838:0.0:0.9162:0.0	.	2184	Q6UB99	ANR11_HUMAN	V	2184	ENSP00000301030:A2184V;ENSP00000367581:A2184V	ENSP00000301030:A2184V	A	-	2	0	ANKRD11	87873900	0.245000	0.23899	0.059000	0.19551	0.073000	0.16967	3.444000	0.52914	2.556000	0.86216	0.450000	0.29827	GCT		0.647	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		10	55	0	0	0	1	0	10	55				
OR1L4	254973	broad.mit.edu	37	9	125486951	125486951	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:125486951G>T	ENST00000259466.1	+	1	683	c.683G>T	c.(682-684)aGa>aTa	p.R228I		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						ACTGTGCTCAGAATCCCCTCT	0.517																																						ENST00000259466.1																			0				breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(682-684)aGa>aTa		olfactory receptor, family 1, subfamily L, member 4							313.0	288.0	297.0					9																	125486951		2203	4300	6503	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486951G>T		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.683G>T	9.37:g.125486951G>T	ENSP00000259466:p.Arg228Ile						p.R228I	NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN			1	683	+			228					Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.683G>T	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	15.99	2.994866	0.54041	.	.	ENSG00000136939	ENST00000259466	T	0.00267	8.38	4.07	0.951	0.19579	GPCR, rhodopsin-like superfamily (1);	0.204192	0.34676	N	0.003763	T	0.00384	0.0012	M	0.93375	3.41	0.49915	D	0.99983	P	0.45348	0.856	P	0.47470	0.548	T	0.68519	-0.5387	10	0.87932	D	0	-2.319	5.5689	0.17187	0.5292:0.0:0.4708:0.0	.	228	Q8NGR5	OR1L4_HUMAN	I	228	ENSP00000259466:R228I	ENSP00000259466:R228I	R	+	2	0	OR1L4	124526772	0.001000	0.12720	0.998000	0.56505	0.830000	0.47004	-0.107000	0.10873	0.399000	0.25367	0.298000	0.19748	AGA		0.517	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			57	408	1	0	8.72158e-25	1	9.23113e-25	57	408				
ZFHX3	463	broad.mit.edu	37	16	72828213	72828213	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:72828213T>C	ENST00000268489.5	-	9	9040	c.8368A>G	c.(8368-8370)Aaa>Gaa	p.K2790E	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.K1876E	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2790					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCCATGGTTTTACTCACAGGT	0.483																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(8368-8370)Aaa>Gaa		zinc finger homeobox 3							81.0	84.0	83.0					16																	72828213		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72828213T>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8368A>G	16.37:g.72828213T>C	ENSP00000268489:p.Lys2790Glu					ZFHX3_ENST00000397992.5_Missense_Mutation_p.K1876E	p.K2790E	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	9040	-		Ovarian(137;0.13)	2790					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.8368A>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.812037	0.32053	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.76578	-1.03;-0.99	5.96	5.96	0.96718	.	0.000000	0.52532	D	0.000062	D	0.85392	0.5686	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.83480	0.0064	10	0.30854	T	0.27	.	16.4311	0.83844	0.0:0.0:0.0:1.0	.	2790	Q15911	ZFHX3_HUMAN	E	2790;1876	ENSP00000268489:K2790E;ENSP00000438926:K1876E	ENSP00000268489:K2790E	K	-	1	0	ZFHX3	71385714	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.242000	0.72376	2.277000	0.76020	0.528000	0.53228	AAA		0.483	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		9	118	0	0	0	1	0	9	118				
XPNPEP1	7511	broad.mit.edu	37	10	111647813	111647813	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:111647813A>G	ENST00000502935.1	-	7	765	c.646T>C	c.(646-648)Tac>Cac	p.Y216H	XPNPEP1_ENST00000322238.8_Missense_Mutation_p.Y216H|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.Y173H|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.Y102H					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TGACCTGTGTAATCCAGGCCC	0.572																																						ENST00000502935.1																			0				endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(646-648)Tac>Cac		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble							70.0	61.0	64.0					10																	111647813		2203	4300	6503	SO:0001583	missense	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111647813A>G		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.646T>C	10.37:g.111647813A>G	ENSP00000421566:p.Tyr216His					XPNPEP1_ENST00000369683.1_Missense_Mutation_p.Y102H|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.Y216H|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.Y173H|XPNPEP1_ENST00000430337.1_5'UTR	p.Y216H			Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	7	765	-		Breast(234;0.174)	173						Missense_Mutation	SNP	ENST00000502935.1	37	c.646T>C	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	A	16.20	3.055581	0.55325	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680;ENST00000403138;ENST00000423625	.	.	.	5.74	5.74	0.90152	.	0.059769	0.64402	D	0.000001	T	0.69949	0.3168	M	0.80508	2.5	0.51767	D	0.999932	B;B;B	0.25235	0.121;0.008;0.004	B;B;B	0.26693	0.072;0.026;0.015	T	0.70008	-0.4990	9	0.56958	D	0.05	-14.5071	14.6152	0.68544	1.0:0.0:0.0:0.0	.	216;216;173	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	H	216;102;216;173;173;173	.	ENSP00000324011:Y216H	Y	-	1	0	XPNPEP1	111637803	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.190000	0.65104	2.182000	0.69389	0.496000	0.49642	TAC		0.572	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			4	44	0	0	0	1	0	4	44				
EZH2	2146	broad.mit.edu	37	7	148515124	148515124	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:148515124C>T	ENST00000460911.1	-	10	1158	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	RNU7-20P_ENST00000515903.1_RNA|EZH2_ENST00000476773.1_Missense_Mutation_p.R348Q|EZH2_ENST00000320356.2_Missense_Mutation_p.R362Q|EZH2_ENST00000541220.1_Missense_Mutation_p.R348Q|EZH2_ENST00000483967.1_Missense_Mutation_p.R348Q|EZH2_ENST00000350995.2_Missense_Mutation_p.R318Q|EZH2_ENST00000478654.1_Missense_Mutation_p.R348Q			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	357	Interaction with CDYL.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATTGGGAAGCCGTCCTCTTCT	0.537			Mis		DLBCL																																	ENST00000320356.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(1084-1086)cGg>cAg		enhancer of zeste homolog 2 (Drosophila)							131.0	120.0	124.0					7																	148515124		2203	4300	6503	SO:0001583	missense	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148515124C>T		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1070G>A	7.37:g.148515124C>T	ENSP00000419711:p.Arg357Gln					EZH2_ENST00000476773.1_Missense_Mutation_p.R348Q|EZH2_ENST00000460911.1_Missense_Mutation_p.R357Q|EZH2_ENST00000350995.2_Missense_Mutation_p.R318Q|EZH2_ENST00000541220.1_Missense_Mutation_p.R348Q|EZH2_ENST00000483967.1_Missense_Mutation_p.R348Q|EZH2_ENST00000478654.1_Missense_Mutation_p.R348Q	p.R362Q	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		10	1206	-	Melanoma(164;0.15)		357					B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.1085G>A	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.932725	0.73442	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.57007	0.2024	N	0.04043	-0.29	0.80722	D	1	B;B;B;B;B;B	0.29037	0.231;0.005;0.005;0.003;0.002;0.035	B;B;B;B;B;B	0.14023	0.01;0.009;0.009;0.006;0.009;0.007	T	0.57183	-0.7855	10	0.17832	T	0.49	.	18.1945	0.89817	0.0:1.0:0.0:0.0	.	357;348;348;357;318;362	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	Q	348;362;357;318;348;348;348	ENSP00000417062:R348Q;ENSP00000320147:R362Q;ENSP00000419711:R357Q;ENSP00000223193:R318Q;ENSP00000443219:R348Q;ENSP00000419050:R348Q;ENSP00000419856:R348Q	ENSP00000320147:R362Q	R	-	2	0	EZH2	148146057	0.909000	0.30893	0.216000	0.23742	0.996000	0.88848	7.149000	0.77396	2.724000	0.93272	0.563000	0.77884	CGG		0.537	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		4	137	0	0	0	1	0	4	137				
TP53	7157	broad.mit.edu	37	17	7577514	7577514	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:7577514G>A	ENST00000269305.4	-	7	956	c.767C>T	c.(766-768)aCa>aTa	p.T256I	TP53_ENST00000413465.2_Missense_Mutation_p.T256I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.T256I|TP53_ENST00000359597.4_Missense_Mutation_p.T256I|TP53_ENST00000455263.2_Missense_Mutation_p.T256I|TP53_ENST00000445888.2_Missense_Mutation_p.T256I	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	256	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		T -> I (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.T256I(2)|p.T256K(2)|p.?(1)|p.T256fs*8(1)|p.I254fs*7(1)|p.T256fs*90(1)|p.T256fs*89(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.I254_T256del(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)	GTCTTCCAGTGTGATGATGGT	0.592		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"""		21	Whole gene deletion(8)|Substitution - Missense(4)|Deletion - In frame(3)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Unknown(1)	p.0?(8)|p.T256I(2)|p.T256K(2)|p.?(1)|p.T256fs*8(1)|p.I254fs*7(1)|p.T256fs*90(1)|p.T256fs*89(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.I254_T256del(1)	ovary(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)|kidney(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM951232	TP53	M		c.(766-768)aCa>aTa	Other conserved DNA damage response genes	tumor protein p53							144.0	103.0	117.0					17																	7577514		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.chr17:7577514G>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.767C>T	17.37:g.7577514G>A	ENSP00000269305:p.Thr256Ile	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_ENST00000359597.4_Missense_Mutation_p.T256I|TP53_ENST00000455263.2_Missense_Mutation_p.T256I|TP53_ENST00000445888.2_Missense_Mutation_p.T256I|TP53_ENST00000269305.4_Missense_Mutation_p.T256I|TP53_ENST00000413465.2_Missense_Mutation_p.T256I	p.T256I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	899	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	256		T -> I (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (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.767C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135670	0.56828	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99846	-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050722	0.85682	D	0.000000	D	0.99768	0.9905	M	0.86028	2.79	0.58432	D	0.999992	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.998	D	0.97397	0.9993	10	0.87932	D	0	-15.8677	10.9866	0.47526	0.0922:0.0:0.9078:0.0	.	256;256;256;256;256	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	I	256;256;256;256;256;256;245;124	ENSP00000410739:T256I;ENSP00000352610:T256I;ENSP00000269305:T256I;ENSP00000398846:T256I;ENSP00000391127:T256I;ENSP00000391478:T256I;ENSP00000425104:T124I	ENSP00000269305:T256I	T	-	2	0	TP53	7518239	1.000000	0.71417	0.923000	0.36655	0.398000	0.30690	9.601000	0.98297	1.305000	0.44909	0.462000	0.41574	ACA		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	55	0	0	0	1	0	21	55				
IGSF21	84966	broad.mit.edu	37	1	18703432	18703432	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:18703432A>G	ENST00000251296.1	+	8	1623	c.1240A>G	c.(1240-1242)Acc>Gcc	p.T414A		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	414	Ig-like 2.					extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GTATCGCTGCACCGCCCAGAA	0.662																																						ENST00000251296.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(1240-1242)Acc>Gcc		immunoglobin superfamily, member 21							48.0	45.0	46.0					1																	18703432		2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18703432A>G	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.1240A>G	1.37:g.18703432A>G	ENSP00000251296:p.Thr414Ala						p.T414A	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	8	1623	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	414			Ig-like 2.		Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.1240A>G	CCDS184.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.517557	0.64634	.	.	ENSG00000117154	ENST00000251296	T	0.12984	2.63	5.17	5.17	0.71159	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.057506	0.64402	D	0.000001	T	0.17109	0.0411	L	0.49699	1.58	0.80722	D	1	B	0.25521	0.128	B	0.32583	0.148	T	0.02966	-1.1088	10	0.37606	T	0.19	-18.0089	13.8282	0.63363	1.0:0.0:0.0:0.0	.	414	Q96ID5	IGS21_HUMAN	A	414	ENSP00000251296:T414A	ENSP00000251296:T414A	T	+	1	0	IGSF21	18576019	1.000000	0.71417	0.982000	0.44146	0.776000	0.43924	8.797000	0.91882	1.936000	0.56123	0.402000	0.26972	ACC		0.662	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		7	50	0	0	0	1	0	7	50				
MRPL44	65080	broad.mit.edu	37	2	224824585	224824585	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:224824585A>G	ENST00000258383.3	+	2	583	c.514A>G	c.(514-516)Aac>Gac	p.N172D		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	172	RNase III.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGTGGCTAGAAACTTGGCTGT	0.473																																						ENST00000258383.3																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(514-516)Aac>Gac		mitochondrial ribosomal protein L44							112.0	111.0	112.0					2																	224824585		2203	4300	6503	SO:0001583	missense	65080				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity	g.chr2:224824585A>G	AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"""Mitochondrial ribosomal proteins / large subunits"""	16650	protein-coding gene	gene with protein product	"""39S ribosomal protein L44, mitochondrial"""	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.514A>G	2.37:g.224824585A>G	ENSP00000258383:p.Asn172Asp						p.N172D	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	583	+		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)	172			RNase III.		Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP	ENST00000258383.3	37	c.514A>G	CCDS2459.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.364317	0.82463	.	.	ENSG00000135900	ENST00000258383	T	0.76709	-1.04	5.7	5.7	0.88788	Ribonuclease III (3);	0.000000	0.85682	D	0.000000	D	0.86360	0.5914	M	0.80028	2.48	0.80722	D	1	D	0.63880	0.993	D	0.64776	0.929	D	0.84792	0.0779	10	0.23302	T	0.38	-10.8472	13.9228	0.63942	1.0:0.0:0.0:0.0	.	172	Q9H9J2	RM44_HUMAN	D	172	ENSP00000258383:N172D	ENSP00000258383:N172D	N	+	1	0	MRPL44	224532829	1.000000	0.71417	0.995000	0.50966	0.841000	0.47740	6.983000	0.76180	2.167000	0.68274	0.528000	0.53228	AAC		0.473	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915		16	199	0	0	0	1	0	16	199				
SLMAP	7871	broad.mit.edu	37	3	57850536	57850536	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:57850536C>T	ENST00000428312.1	+	11	1232	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W	SLMAP_ENST00000416870.1_Intron|SLMAP_ENST00000295952.3_Intron|SLMAP_ENST00000449503.2_Intron|SLMAP_ENST00000295951.3_Intron|SLMAP_ENST00000383718.3_Missense_Mutation_p.R380W			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	380					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		ATTTACAGTACGGTTAGAACA	0.289																																						ENST00000383718.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18						c.(1138-1140)Cgg>Tgg		sarcolemma associated protein																																				SO:0001583	missense	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57850536C>T	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1138C>T	3.37:g.57850536C>T	ENSP00000398661:p.Arg380Trp					SLMAP_ENST00000416870.1_Intron|SLMAP_ENST00000449503.2_Intron|SLMAP_ENST00000295951.3_Intron|SLMAP_ENST00000295952.3_Intron|SLMAP_ENST00000428312.1_Missense_Mutation_p.R380W	p.R380W			Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	11	1236	+			380					Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	ENST00000428312.1	37	c.1138C>T		.	.	.	.	.	.	.	.	.	.	C	18.84	3.709674	0.68730	.	.	ENSG00000163681	ENST00000383718;ENST00000428312	T;T	0.49720	0.77;1.34	5.29	4.4	0.53042	.	.	.	.	.	T	0.60971	0.2310	.	.	.	0.80722	D	1	D;B	0.76494	0.999;0.001	P;B	0.58970	0.849;0.002	T	0.61013	-0.7148	8	0.40728	T	0.16	.	14.2839	0.66232	0.0:0.9266:0.0:0.0734	.	380;380	Q14BN4;Q14BN4-6	SLMAP_HUMAN;.	W	380	ENSP00000373224:R380W;ENSP00000398661:R380W	ENSP00000373224:R380W	R	+	1	2	SLMAP	57825576	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.985000	0.63845	2.468000	0.83385	0.557000	0.71058	CGG		0.289	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		10	25	0	0	0	1	0	10	25				
PTPN18	26469	broad.mit.edu	37	2	131129859	131129859	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:131129859A>G	ENST00000175756.5	+	13	1144	c.1043A>G	c.(1042-1044)cAc>cGc	p.H348R	PTPN18_ENST00000347849.3_Missense_Mutation_p.H241R	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	348					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					TCCCCGGGCCACGCCATGGCT	0.756																																						ENST00000175756.5																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(1042-1044)cAc>cGc		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)							5.0	7.0	6.0					2																	131129859		1729	3701	5430	SO:0001583	missense	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131129859A>G	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1043A>G	2.37:g.131129859A>G	ENSP00000175756:p.His348Arg					PTPN18_ENST00000347849.3_Missense_Mutation_p.H241R	p.H348R	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			13	1144	+	Colorectal(110;0.1)		348					B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	c.1043A>G	CCDS2161.1	.	.	.	.	.	.	.	.	.	.	A	0.021	-1.429089	0.01117	.	.	ENSG00000072135	ENST00000175756;ENST00000347849;ENST00000409022	T;T	0.10763	3.63;2.84	4.28	-3.51	0.04696	.	0.748097	0.11013	N	0.609296	T	0.02767	0.0083	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.43782	-0.9370	10	0.15499	T	0.54	.	0.1201	0.00064	0.3192:0.1997:0.153:0.3281	.	327;348;241	E7EMB8;Q99952;B4E1E6	.;PTN18_HUMAN;.	R	348;241;327	ENSP00000175756:H348R;ENSP00000310092:H241R	ENSP00000175756:H348R	H	+	2	0	PTPN18	130846329	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.542000	0.06091	-0.346000	0.08312	-1.275000	0.01399	CAC		0.756	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			3	20	0	0	0	1	0	3	20				
ADAMTSL1	92949	broad.mit.edu	37	9	18892440	18892440	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:18892440A>G	ENST00000380548.4	+	26	5036	c.4697A>G	c.(4696-4698)cAg>cGg	p.Q1566R	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.Q267R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1566	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAGGTGTCCAGACCCGCAGG	0.617																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(4696-4698)cAg>cGg		ADAMTS-like 1							29.0	32.0	31.0					9																	18892440		1924	4117	6041	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18892440A>G	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4697A>G	9.37:g.18892440A>G	ENSP00000369921:p.Gln1566Arg					ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.Q267R	p.Q1566R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	26	5036	+			1566			TSP type-1 8.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.4697A>G	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.185653	0.57909	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239	T;T	0.52295	0.67;0.67	5.45	5.45	0.79879	.	0.145662	0.47852	D	0.000211	T	0.54532	0.1864	L	0.39020	1.185	0.80722	D	1	D;P	0.76494	0.999;0.465	D;B	0.71414	0.973;0.336	T	0.47182	-0.9137	10	0.08179	T	0.78	.	15.5141	0.75809	1.0:0.0:0.0:0.0	.	267;1566	Q8N6G6-6;Q8N6G6	.;ATL1_HUMAN	R	1566;267;270	ENSP00000369921:Q1566R;ENSP00000369918:Q267R	ENSP00000325584:Q270R	Q	+	2	0	ADAMTSL1	18882440	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	7.032000	0.76498	2.070000	0.61991	0.454000	0.30748	CAG		0.617	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			3	21	0	0	0	1	0	3	21				
SIPA1L3	23094	broad.mit.edu	37	19	38655419	38655419	+	Missense_Mutation	SNP	C	C	T	rs374780684		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:38655419C>T	ENST00000222345.6	+	15	4590	c.4081C>T	c.(4081-4083)Cgg>Tgg	p.R1361W		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1361					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGACAGGCGGCGGGAGGTCTC	0.721																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(4081-4083)Cgg>Tgg		signal-induced proliferation-associated 1 like 3		C	TRP/ARG	1,4403		0,1,2201	17.0	19.0	18.0		4081	4.4	1.0	19		18	0,8596		0,0,4298	no	missense	SIPA1L3	NM_015073.1	101	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1361/1782	38655419	1,12999	2202	4298	6500	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38655419C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4081C>T	19.37:g.38655419C>T	ENSP00000222345:p.Arg1361Trp						p.R1361W	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		15	4590	+			1361					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.4081C>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292096	0.80914	2.27E-4	0.0	ENSG00000105738	ENST00000222345	T	0.78481	-1.18	4.44	4.44	0.53790	.	0.547984	0.17790	N	0.161934	T	0.79587	0.4471	L	0.46157	1.445	0.54753	D	0.999982	D	0.69078	0.997	P	0.52856	0.711	T	0.81771	-0.0780	10	0.72032	D	0.01	-24.5848	13.9968	0.64407	0.0:1.0:0.0:0.0	.	1361	O60292	SI1L3_HUMAN	W	1361	ENSP00000222345:R1361W	ENSP00000222345:R1361W	R	+	1	2	SIPA1L3	43347259	0.996000	0.38824	0.998000	0.56505	0.931000	0.56810	2.149000	0.42244	2.006000	0.58801	0.585000	0.79938	CGG		0.721	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		8	32	0	0	0	1	0	8	32				
EIF2B2	8892	broad.mit.edu	37	14	75475775	75475775	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:75475775G>A	ENST00000266126.5	+	8	1020	c.940G>A	c.(940-942)Gac>Aac	p.D314N	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	314					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CCCTGTGTTTGACTACGTTCC	0.483																																						ENST00000266126.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11						c.(940-942)Gac>Aac		eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa							390.0	315.0	341.0					14																	75475775		2203	4300	6503	SO:0001583	missense	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75475775G>A		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.940G>A	14.37:g.75475775G>A	ENSP00000266126:p.Asp314Asn						p.D314N	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	8	1020	+			314					O43201	Missense_Mutation	SNP	ENST00000266126.5	37	c.940G>A	CCDS9836.1	.	.	.	.	.	.	.	.	.	.	G	36	5.813784	0.96975	.	.	ENSG00000119718	ENST00000266126	D	0.99143	-5.48	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.99539	0.9835	H	0.94264	3.515	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98276	1.0506	10	0.87932	D	0	-31.6196	19.8022	0.96513	0.0:0.0:1.0:0.0	.	314	P49770	EI2BB_HUMAN	N	314	ENSP00000266126:D314N	ENSP00000266126:D314N	D	+	1	0	EIF2B2	74545528	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.674000	0.91012	0.650000	0.86243	GAC		0.483	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		88	229	0	0	0	1	0	88	229				
PCGF1	84759	broad.mit.edu	37	2	74733873	74733873	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:74733873G>T	ENST00000233630.6	-	3	1249	c.338C>A	c.(337-339)cCt>cAt	p.P113H	LBX2-AS1_ENST00000548978.2_RNA|PCGF1_ENST00000480844.2_5'UTR|LBX2-AS1_ENST00000603175.1_RNA	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	113	Required for repressor activity.				histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TTGCAAGCCAGGCACCAGCTT	0.532																																						ENST00000233630.6																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						c.(337-339)cCt>cAt		polycomb group ring finger 1							135.0	120.0	125.0					2																	74733873		2203	4300	6503	SO:0001583	missense	84759				histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding	g.chr2:74733873G>T	AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.338C>A	2.37:g.74733873G>T	ENSP00000233630:p.Pro113His					PCGF1_ENST00000480844.2_5'UTR	p.P113H	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN			3	1249	-			113			Necessary for repressor activity.|No repressor activity.		Q7Z506	Missense_Mutation	SNP	ENST00000233630.6	37	c.338C>A	CCDS1946.2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534818	0.85812	.	.	ENSG00000115289	ENST00000233630	T	0.35605	1.3	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.64983	0.2648	M	0.86651	2.83	0.58432	D	0.999997	D	0.89917	1.0	D	0.76575	0.988	T	0.71073	-0.4698	10	0.87932	D	0	-8.7901	14.7957	0.69876	0.0:0.0:1.0:0.0	.	113	Q9BSM1	PCGF1_HUMAN	H	113	ENSP00000233630:P113H	ENSP00000233630:P113H	P	-	2	0	PCGF1	74587381	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.138000	0.77305	2.572000	0.86782	0.655000	0.94253	CCT		0.532	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673		26	74	1	0	3.28513e-13	1	3.42641e-13	26	74				
ZFHX3	463	broad.mit.edu	37	16	72828177	72828177	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:72828177G>T	ENST00000268489.5	-	9	9076	c.8404C>A	c.(8404-8406)Cct>Act	p.P2802T	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1888T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2802					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATGGAGGAAGGGCTTAGAAGA	0.478																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(8404-8406)Cct>Act		zinc finger homeobox 3							88.0	90.0	89.0					16																	72828177		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72828177G>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8404C>A	16.37:g.72828177G>T	ENSP00000268489:p.Pro2802Thr					ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1888T	p.P2802T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	9076	-		Ovarian(137;0.13)	2802					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.8404C>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.629034	0.28978	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.75938	-0.98;-0.94	5.96	5.96	0.96718	.	0.000000	0.49916	D	0.000133	D	0.85323	0.5670	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84829	0.0801	10	0.62326	D	0.03	.	20.4043	0.99006	0.0:0.0:1.0:0.0	.	2802	Q15911	ZFHX3_HUMAN	T	2802;1888	ENSP00000268489:P2802T;ENSP00000438926:P1888T	ENSP00000268489:P2802T	P	-	1	0	ZFHX3	71385678	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.823000	0.97156	0.650000	0.86243	CCT		0.478	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		7	123	1	0	0.0293803	1	0.0295309	7	123				
IL23R	149233	broad.mit.edu	37	1	67635261	67635261	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:67635261G>A	ENST00000347310.5	+	3	478	c.307G>A	c.(307-309)Gct>Act	p.A103T	IL23R_ENST00000371002.1_Missense_Mutation_p.A103T|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	103					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						GTACTGCACTGCTGAATGTCC	0.373																																						ENST00000347310.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(307-309)Gct>Act		interleukin 23 receptor							89.0	97.0	94.0					1																	67635261		2203	4300	6503	SO:0001583	missense	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67635261G>A	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.307G>A	1.37:g.67635261G>A	ENSP00000321345:p.Ala103Thr					C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.A103T	p.A103T	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN			3	478	+			103					C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	37	c.307G>A	CCDS637.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.584916	0.28268	.	.	ENSG00000162594	ENST00000347310;ENST00000371002;ENST00000540775;ENST00000543799	D;D	0.86432	-2.12;-2.12	5.46	4.55	0.56014	.	0.468738	0.24285	N	0.039876	D	0.86948	0.6056	L	0.56769	1.78	0.30460	N	0.774422	P;D	0.76494	0.936;0.999	P;D	0.71656	0.64;0.974	T	0.82396	-0.0478	10	0.36615	T	0.2	.	10.381	0.44113	0.0904:0.0:0.9096:0.0	.	103;103	Q5VWK5-3;Q5VWK5	.;IL23R_HUMAN	T	103;103;58;58	ENSP00000321345:A103T;ENSP00000360041:A103T	ENSP00000321345:A103T	A	+	1	0	IL23R	67407849	0.586000	0.26782	0.135000	0.22099	0.004000	0.04260	4.951000	0.63610	1.426000	0.47256	0.655000	0.94253	GCT		0.373	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701		9	128	0	0	0	1	0	9	128				
PCDHA12	56137	broad.mit.edu	37	5	140256700	140256700	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140256700A>G	ENST00000398631.2	+	1	1643	c.1643A>G	c.(1642-1644)aAc>aGc	p.N548S	PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	548	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGCAGCAACGTGACGCTG	0.682																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1642-1644)aAc>aGc									106.0	114.0	111.0					5																	140256700		2203	4295	6498	SO:0001583	missense	56137							g.chr5:140256700A>G	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1643A>G	5.37:g.140256700A>G	ENSP00000381628:p.Asn548Ser					PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron	p.N548S	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1643	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1643A>G	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430174	0.62844	.	.	ENSG00000251664	ENST00000398631	T	0.50548	0.74	4.92	4.92	0.64577	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.55847	0.1946	L	0.37466	1.105	0.28832	N	0.897082	P;D	0.71674	0.708;0.998	P;D	0.65323	0.657;0.934	T	0.52366	-0.8585	9	0.66056	D	0.02	.	11.1681	0.48556	0.8462:0.1538:0.0:0.0	.	548;548	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	S	548	ENSP00000381628:N548S	ENSP00000381628:N548S	N	+	2	0	PCDHA12	140236884	0.497000	0.26067	0.998000	0.56505	0.819000	0.46315	1.306000	0.33505	1.841000	0.53522	0.459000	0.35465	AAC		0.682	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		79	252	0	0	0	1	0	79	252				
SPTLC3	55304	broad.mit.edu	37	20	13098206	13098206	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:13098206A>G	ENST00000399002.2	+	8	1260	c.986A>G	c.(985-987)tAc>tGc	p.Y329C	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	329					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						AAGAAGAAATACAAGGCTTAC	0.502																																						ENST00000399002.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(985-987)tAc>tGc		serine palmitoyltransferase, long chain base subunit 3	Pyridoxal Phosphate(DB00114)						137.0	136.0	136.0					20																	13098206		1880	4123	6003	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13098206A>G	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.986A>G	20.37:g.13098206A>G	ENSP00000381968:p.Tyr329Cys					SPTLC3_ENST00000378194.4_Intron	p.Y329C	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN			8	1260	+			329					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.986A>G	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	A	25.3	4.622450	0.87460	.	.	ENSG00000172296	ENST00000399002	D	0.96396	-4.0	5.65	5.65	0.86999	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98928	1.0786	10	0.87932	D	0	-17.1516	16.1864	0.81955	1.0:0.0:0.0:0.0	.	329	Q9NUV7	SPTC3_HUMAN	C	329	ENSP00000381968:Y329C	ENSP00000381968:Y329C	Y	+	2	0	SPTLC3	13046206	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.287000	0.95975	2.281000	0.76405	0.528000	0.53228	TAC		0.502	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		58	184	0	0	0	1	0	58	184				
ATP8A1	10396	broad.mit.edu	37	4	42554538	42554538	+	Nonsense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:42554538A>T	ENST00000381668.5	-	17	1734	c.1503T>A	c.(1501-1503)taT>taA	p.Y501*	ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.Y486*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	501					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ATGCTGCTTGATAAATAATCT	0.348																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(1501-1503)taT>taA		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						136.0	128.0	131.0					4																	42554538		2203	4300	6503	SO:0001587	stop_gained	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42554538A>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1503T>A	4.37:g.42554538A>T	ENSP00000371084:p.Tyr501*					ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.Y486*	p.Y501*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			17	1734	-			501					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Nonsense_Mutation	SNP	ENST00000381668.5	37	c.1503T>A	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	A	38	6.803903	0.97849	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.75	-2.48	0.06423	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.828	0.57731	0.5199:0.0:0.4801:0.0	.	.	.	.	X	501;486	.	ENSP00000264449:Y486X	Y	-	3	2	ATP8A1	42249295	0.982000	0.34865	0.992000	0.48379	0.939000	0.58152	0.262000	0.18460	-0.341000	0.08376	-0.911000	0.02809	TAT		0.348	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		5	60	0	0	0	1	0	5	60				
TP53BP1	7158	broad.mit.edu	37	15	43738703	43738703	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:43738703C>T	ENST00000263801.3	-	14	3159	c.2907G>A	c.(2905-2907)ggG>ggA	p.G969G	TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000450115.2_Silent_p.G974G|TP53BP1_ENST00000382039.3_Silent_p.G974G|TP53BP1_ENST00000382044.4_Silent_p.G974G	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	969					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTTTTCCACTCCCAAGTATGG	0.468								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(2905-2907)ggG>ggA	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							108.0	107.0	108.0					15																	43738703		2201	4298	6499	SO:0001819	synonymous_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43738703C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2907G>A	15.37:g.43738703C>T						TP53BP1_ENST00000382044.4_Silent_p.G974G|TP53BP1_ENST00000382039.3_Silent_p.G974G|TP53BP1_ENST00000450115.2_Silent_p.G974G	p.G969G	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	14	3159	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	969					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	c.2907G>A	CCDS10096.1																																																																																				0.468	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			15	144	0	0	0	1	0	15	144				
LRP3	4037	broad.mit.edu	37	19	33697065	33697065	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:33697065T>C	ENST00000253193.7	+	5	1591	c.1389T>C	c.(1387-1389)ggT>ggC	p.G463G	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	463	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TCCACTGCGGTACCAACCTGT	0.657																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(1387-1389)ggT>ggC		low density lipoprotein receptor-related protein 3							34.0	32.0	33.0					19																	33697065		2202	4300	6502	SO:0001819	synonymous_variant	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33697065T>C	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1389T>C	19.37:g.33697065T>C							p.G463G	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			5	1591	+	Esophageal squamous(110;0.137)		463			LDL-receptor class A 4.		B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	c.1389T>C	CCDS12430.1																																																																																				0.657	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			7	21	0	0	0	1	0	7	21				
FZD4	8322	broad.mit.edu	37	11	86662997	86662997	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:86662997A>G	ENST00000531380.1	-	2	1106	c.801T>C	c.(799-801)atT>atC	p.I267I	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	267					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAATATAAGCAATGCTATAAA	0.438																																						ENST00000531380.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(799-801)atT>atC		frizzled family receptor 4							37.0	38.0	38.0					11																	86662997		2201	4299	6500	SO:0001819	synonymous_variant	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86662997A>G	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.801T>C	11.37:g.86662997A>G						PRSS23_ENST00000533902.2_3'UTR	p.I267I	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	1106	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	267					A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	37	c.801T>C	CCDS8279.1																																																																																				0.438	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		12	27	0	0	0	1	0	12	27				
KIAA0368	23392	broad.mit.edu	37	9	114174334	114174334	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:114174334G>A	ENST00000338205.5	-	20	2393	c.2174C>T	c.(2173-2175)tCa>tTa	p.S725L	RNA5SP294_ENST00000411306.1_RNA|KIAA0368_ENST00000259335.4_Missense_Mutation_p.S903L			Q5VYK3	ECM29_HUMAN	KIAA0368	731					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTCTATCATTGATTTCAACTC	0.358																																						ENST00000259335.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(2707-2709)tCa>tTa		KIAA0368							102.0	96.0	97.0					9																	114174334		1837	4094	5931	SO:0001583	missense	23392							g.chr9:114174334G>A	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.2174C>T	9.37:g.114174334G>A	ENSP00000339889:p.Ser725Leu					KIAA0368_ENST00000338205.5_Missense_Mutation_p.S725L	p.S903L	NM_001080398.1	NP_001073867.1					22	2707	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.2708C>T		.	.	.	.	.	.	.	.	.	.	G	18.23	3.576922	0.65878	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.66460	-0.21	5.51	4.62	0.57501	.	0.468148	0.22363	N	0.061059	T	0.62073	0.2398	L	0.50333	1.59	0.80722	D	1	B	0.26845	0.161	B	0.27608	0.081	T	0.60337	-0.7283	10	0.40728	T	0.16	.	14.6957	0.69121	0.0701:0.0:0.9299:0.0	.	200	B3KXF2	.	L	725;903;200	ENSP00000259335:S903L	ENSP00000259335:S903L	S	-	2	0	KIAA0368	113214155	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.218000	0.72224	1.475000	0.48197	0.485000	0.47835	TCA		0.358	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		3	21	0	0	0	1	0	3	21				
CPNE8	144402	broad.mit.edu	37	12	39047852	39047852	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:39047852A>G	ENST00000331366.5	-	20	1623	c.1527T>C	c.(1525-1527)taT>taC	p.Y509Y	CPNE8_ENST00000538596.2_Silent_p.Y178Y|CPNE8_ENST00000360449.3_Silent_p.Y497Y|CPNE8_ENST00000546603.1_5'UTR	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	509	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TTCTGTCAATATAATCCCTGA	0.403																																						ENST00000331366.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1525-1527)taT>taC		copine VIII							79.0	72.0	75.0					12																	39047852		2203	4300	6503	SO:0001819	synonymous_variant	144402							g.chr12:39047852A>G	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1527T>C	12.37:g.39047852A>G						CPNE8_ENST00000360449.3_Silent_p.Y497Y|CPNE8_ENST00000538596.2_Silent_p.Y178Y|CPNE8_ENST00000546603.1_5'UTR	p.Y509Y	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN			20	1623	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	509			VWFA.		Q2TB41|Q86VY2	Silent	SNP	ENST00000331366.5	37	c.1527T>C	CCDS8733.1																																																																																				0.403	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		3	53	0	0	0	1	0	3	53				
MCM10	55388	broad.mit.edu	37	10	13222506	13222506	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:13222506T>C	ENST00000484800.2	+	7	935	c.832T>C	c.(832-834)Tct>Cct	p.S278P	MCM10_ENST00000378714.3_Missense_Mutation_p.S277P|MCM10_ENST00000378694.1_Missense_Mutation_p.S277P			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	278	OB-fold domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GATCAGACTGTCTCAGATCAA	0.438																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(829-831)Tct>Cct		minichromosome maintenance complex component 10							133.0	129.0	131.0					10																	13222506		2203	4300	6503	SO:0001583	missense	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13222506T>C	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.832T>C	10.37:g.13222506T>C	ENSP00000418268:p.Ser278Pro					MCM10_ENST00000484800.2_Missense_Mutation_p.S278P|MCM10_ENST00000378714.3_Missense_Mutation_p.S277P	p.S277P			Q7L590	MCM10_HUMAN			6	904	+			278					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	c.829T>C	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.813789	0.50527	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.14893	2.47;2.47;2.47	5.82	3.45	0.39498	.	0.160348	0.56097	N	0.000021	T	0.12220	0.0297	L	0.38692	1.165	0.53688	D	0.999975	B;B;B	0.20052	0.028;0.041;0.024	B;B;B	0.26693	0.027;0.072;0.033	T	0.11743	-1.0575	10	0.22109	T	0.4	-9.2227	6.1255	0.20177	0.0:0.1401:0.1366:0.7233	.	277;277;278	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	P	277;278;278;277	ENSP00000367986:S277P;ENSP00000418268:S278P;ENSP00000367966:S277P	ENSP00000354945:S278P	S	+	1	0	MCM10	13262512	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.760000	0.55235	0.994000	0.38892	0.533000	0.62120	TCT		0.438	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		41	113	0	0	0	1	0	41	113				
JAM2	58494	broad.mit.edu	37	21	27078352	27078352	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:27078352T>C	ENST00000480456.1	+	7	1309	c.759T>C	c.(757-759)gtT>gtC	p.V253V	JAM2_ENST00000425221.2_Silent_p.V217V|JAM2_ENST00000312957.5_Silent_p.V253V|JAM2_ENST00000400532.1_Silent_p.V253V	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	253					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TGATTTCCGTTTGTGGCCTTG	0.388																																						ENST00000480456.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(757-759)gtT>gtC		junctional adhesion molecule 2							181.0	185.0	184.0					21																	27078352		1943	4138	6081	SO:0001819	synonymous_variant	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27078352T>C	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.759T>C	21.37:g.27078352T>C						JAM2_ENST00000400532.1_Silent_p.V253V|JAM2_ENST00000312957.5_Silent_p.V253V|JAM2_ENST00000425221.2_Silent_p.V217V	p.V253V	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN			7	1309	+			253					B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Silent	SNP	ENST00000480456.1	37	c.759T>C	CCDS42911.1																																																																																				0.388	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			21	62	0	0	0	1	0	21	62				
REV1	51455	broad.mit.edu	37	2	100038070	100038070	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:100038070T>C	ENST00000258428.3	-	11	1950	c.1722A>G	c.(1720-1722)gtA>gtG	p.V574V	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.V573V	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	574	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGGTAATGTCTACCAGCGCTT	0.453								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1720-1722)gtA>gtG	Direct reversal of damage	REV1, polymerase (DNA directed)							164.0	143.0	150.0					2																	100038070		2203	4300	6503	SO:0001819	synonymous_variant	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100038070T>C	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1722A>G	2.37:g.100038070T>C						REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.V573V	p.V574V	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			11	1950	-			574			UmuC.		O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	ENST00000258428.3	37	c.1722A>G	CCDS2045.1																																																																																				0.453	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		25	81	0	0	0	1	0	25	81				
HNRNPUL2	221092	broad.mit.edu	37	11	62490360	62490360	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:62490360G>A	ENST00000301785.5	-	5	1099	c.907C>T	c.(907-909)Cca>Tca	p.P303S	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.P303S	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	303	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCTTTCATTGGGAGATTCTGG	0.428																																						ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(907-909)Cca>Tca		heterogeneous nuclear ribonucleoprotein U-like 2							84.0	82.0	83.0					11																	62490360		1866	4099	5965	SO:0001583	missense	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62490360G>A		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.907C>T	11.37:g.62490360G>A	ENSP00000301785:p.Pro303Ser					RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.P303S	p.P303S	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			5	1099	-			303			B30.2/SPRY.		Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.907C>T	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496494	0.44352	.	.	ENSG00000214753	ENST00000301785	T	0.66995	-0.24	5.25	5.25	0.73442	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.137818	0.50627	D	0.000116	T	0.59224	0.2178	L	0.27053	0.805	0.50467	D	0.999878	B	0.33883	0.43	B	0.40602	0.334	T	0.54912	-0.8222	10	0.23891	T	0.37	-6.9064	16.4007	0.83640	0.0:0.0:1.0:0.0	.	303	Q1KMD3	HNRL2_HUMAN	S	303	ENSP00000301785:P303S	ENSP00000301785:P303S	P	-	1	0	HNRNPUL2	62246936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.077000	0.64419	2.730000	0.93505	0.650000	0.86243	CCA		0.428	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		15	41	0	0	0	1	0	15	41				
ISM2	145501	broad.mit.edu	37	14	77944601	77944601	+	Silent	SNP	C	C	A	rs140615876	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:77944601C>A	ENST00000342219.4	-	6	1238	c.1182G>T	c.(1180-1182)acG>acT	p.T394T	ISM2_ENST00000493585.1_Missense_Mutation_p.R279L|ISM2_ENST00000393684.3_Silent_p.T306T|ISM2_ENST00000412904.1_Silent_p.T313T|ISM2_ENST00000429906.1_Silent_p.T313T	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	394						extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CATGCATGTCCGTAGCATTGC	0.607																																						ENST00000493585.1																			0				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(835-837)cGg>cTg		isthmin 2							175.0	155.0	161.0					14																	77944601		2203	4300	6503	SO:0001819	synonymous_variant	145501					extracellular region		g.chr14:77944601C>A	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1182G>T	14.37:g.77944601C>A						ISM2_ENST00000393684.3_Silent_p.T306T|ISM2_ENST00000412904.1_Silent_p.T313T|ISM2_ENST00000429906.1_Silent_p.T313T|ISM2_ENST00000342219.4_Silent_p.T394T	p.R279L	NM_182509.3	NP_872315.2	Q6H9L7	ISM2_HUMAN			5	858	-			0					A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.836G>T	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	C	2.974	-0.211763	0.06140	.	.	ENSG00000100593	ENST00000493585	T	0.37915	1.17	4.85	-4.0	0.04057	.	.	.	.	.	T	0.27063	0.0663	.	.	.	0.09310	N	1	P	0.43287	0.802	B	0.41988	0.372	T	0.31752	-0.9932	8	0.87932	D	0	-2.5088	5.6445	0.17582	0.0:0.2927:0.203:0.5044	.	279	Q6H9L7-2	.	L	279	ENSP00000420452:R279L	ENSP00000420452:R279L	R	-	2	0	ISM2	77014354	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	-2.475000	0.00987	-0.187000	0.10516	0.407000	0.27541	CGG		0.607	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		5	302	1	0	0.0215528	1	0.0216729	5	302				
PTGS2	5743	broad.mit.edu	37	1	186648239	186648239	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:186648239C>T	ENST00000367468.5	-	3	400	c.264G>A	c.(262-264)gtG>gtA	p.V88V	RP5-973M2.2_ENST00000608917.1_lincRNA|PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	88					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	GAATGTTATTCACAACGTTCC	0.353																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(262-264)gtG>gtA		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						86.0	85.0	85.0					1																	186648239		2203	4300	6503	SO:0001819	synonymous_variant	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186648239C>T	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.264G>A	1.37:g.186648239C>T						PTGS2_ENST00000490885.2_5'UTR	p.V88V	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			3	400	-			88					A8K802|Q16876	Silent	SNP	ENST00000367468.5	37	c.264G>A	CCDS1371.1																																																																																				0.353	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		12	51	0	0	0	1	0	12	51				
COL15A1	1306	broad.mit.edu	37	9	101749621	101749621	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:101749621G>A	ENST00000375001.3	+	4	1117	c.694G>A	c.(694-696)Gag>Aag	p.E232K		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	232	Laminin G-like.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAGGACTCCCGAGGAGCTGTG	0.647																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(694-696)Gag>Aag		collagen, type XV, alpha 1							131.0	127.0	128.0					9																	101749621		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101749621G>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.694G>A	9.37:g.101749621G>A	ENSP00000364140:p.Glu232Lys						p.E232K	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			4	1117	+		Acute lymphoblastic leukemia(62;0.0562)	232			Nonhelical region 1 (NC1).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.694G>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667861	0.47677	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.02345	4.33	5.1	4.18	0.49190	Concanavalin A-like lectin/glucanase (1);	0.117930	0.56097	D	0.000026	T	0.10508	0.0257	M	0.78637	2.42	0.44685	D	0.997679	D	0.55385	0.971	P	0.59056	0.851	T	0.00719	-1.1595	10	0.38643	T	0.18	-17.8225	10.0476	0.42197	0.0989:0.0:0.9011:0.0	.	232	P39059	COFA1_HUMAN	K	232;202	ENSP00000364140:E232K	ENSP00000364140:E232K	E	+	1	0	COL15A1	100789442	1.000000	0.71417	0.958000	0.39756	0.166000	0.22503	5.638000	0.67861	2.520000	0.84964	0.650000	0.86243	GAG		0.647	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		55	170	0	0	0	1	0	55	170				
ITGA5	3678	broad.mit.edu	37	12	54793706	54793706	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:54793706T>A	ENST00000293379.4	-	26	2930	c.2669A>T	c.(2668-2670)cAc>cTc	p.H890L	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	890					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TTTTTGCTGGTGGTGCAGGGA	0.537											OREG0021897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(2668-2670)cAc>cTc		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							114.0	109.0	111.0					12																	54793706		2203	4300	6503	SO:0001583	missense	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54793706T>A		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2669A>T	12.37:g.54793706T>A	ENSP00000293379:p.His890Leu		OREG0021897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1003	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.H890L	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			26	2930	-			890					Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.2669A>T	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	T	8.481	0.859752	0.17178	.	.	ENSG00000161638	ENST00000293379	T	0.45668	0.89	4.25	4.25	0.50352	Integrin alpha-2 (1);	0.762275	0.12429	N	0.469703	T	0.28896	0.0717	N	0.08118	0	0.48452	D	0.999651	P	0.51057	0.941	P	0.48425	0.577	T	0.01492	-1.1341	10	0.20519	T	0.43	.	10.3177	0.43747	0.0:0.0:0.0:1.0	.	890	P08648	ITA5_HUMAN	L	890	ENSP00000293379:H890L	ENSP00000293379:H890L	H	-	2	0	ITGA5	53079973	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	2.088000	0.41663	1.874000	0.54306	0.459000	0.35465	CAC		0.537	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			4	219	0	0	0	1	0	4	219				
PLD1	5337	broad.mit.edu	37	3	171405176	171405176	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:171405176T>C	ENST00000351298.4	-	15	1864	c.1738A>G	c.(1738-1740)Att>Gtt	p.I580V	PLD1_ENST00000340989.4_Missense_Mutation_p.I580V|PLD1_ENST00000342215.6_Intron|PLD1_ENST00000356327.5_Missense_Mutation_p.I580V	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	580	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTGCTGTCAATGCTGCTGATG	0.433																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(1738-1740)Att>Gtt		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						141.0	134.0	137.0					3																	171405176		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171405176T>C	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1738A>G	3.37:g.171405176T>C	ENSP00000342793:p.Ile580Val					PLD1_ENST00000351298.4_Missense_Mutation_p.I580V|PLD1_ENST00000342215.6_Intron|PLD1_ENST00000340989.4_Missense_Mutation_p.I580V	p.I580V	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		15	1808	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		580			Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.1738A>G	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	T	3.336	-0.135558	0.06711	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989	T;T;T	0.06371	3.49;3.46;3.31	5.14	-1.22	0.09494	.	0.627228	0.16283	N	0.221275	T	0.03959	0.0111	L	0.38175	1.15	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42447	-0.9451	10	0.08599	T	0.76	-3.0656	6.57	0.22533	0.0:0.2091:0.2755:0.5154	.	603;580	Q59EA4;Q13393	.;PLD1_HUMAN	V	580	ENSP00000348681:I580V;ENSP00000342793:I580V;ENSP00000340326:I580V	ENSP00000340326:I580V	I	-	1	0	PLD1	172887870	0.995000	0.38212	0.547000	0.28179	0.854000	0.48673	0.488000	0.22371	0.017000	0.15025	0.455000	0.32223	ATT		0.433	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		27	68	0	0	0	1	0	27	68				
PLA2G5	5322	broad.mit.edu	37	1	20417069	20417069	+	Missense_Mutation	SNP	C	C	A	rs546917220		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:20417069C>A	ENST00000375108.3	+	5	569	c.301C>A	c.(301-303)Ccc>Acc	p.P101T	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	101					arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		AGAGCCCGGGCCCTTCTGCCA	0.552																																						ENST00000375108.3																			0				NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(301-303)Ccc>Acc		phospholipase A2, group V							148.0	130.0	136.0					1																	20417069		2203	4300	6503	SO:0001583	missense	5322				lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr1:20417069C>A	U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698	ENST00000375108.3:c.301C>A	1.37:g.20417069C>A	ENSP00000364249:p.Pro101Thr					PLA2G5_ENST00000486277.1_3'UTR	p.P101T	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)	5	569	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)	101					Q8N435	Missense_Mutation	SNP	ENST00000375108.3	37	c.301C>A	CCDS202.1	.	.	.	.	.	.	.	.	.	.	C	6.097	0.386140	0.11524	.	.	ENSG00000127472	ENST00000375108	D	0.81821	-1.54	5.67	-11.3	0.00108	Phospholipase A2 (3);	0.949736	0.08761	N	0.897665	T	0.46502	0.1396	N	0.02225	-0.63	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.11329	0.001;0.006	T	0.40869	-0.9540	10	0.12103	T	0.63	-7.8762	8.484	0.33061	0.3376:0.0961:0.0:0.5663	.	101;74	P39877;B3KUQ4	PA2G5_HUMAN;.	T	101	ENSP00000364249:P101T	ENSP00000364249:P101T	P	+	1	0	PLA2G5	20289656	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.651000	0.00403	-2.449000	0.00544	-0.252000	0.11476	CCC		0.552	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007668.1	NM_000929		6	153	1	0	0.0215528	1	0.0216729	6	153				
GLDC	2731	broad.mit.edu	37	9	6588634	6588634	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:6588634T>C	ENST00000321612.6	-	13	1799	c.1649A>G	c.(1648-1650)cAc>cGc	p.H550R		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	550					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	AATCATGCTGTGAACAAGGGA	0.433																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1648-1650)cAc>cGc		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						152.0	131.0	138.0					9																	6588634		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6588634T>C	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1649A>G	9.37:g.6588634T>C	ENSP00000370737:p.His550Arg						p.H550R	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	13	1799	-		Acute lymphoblastic leukemia(23;0.161)	550					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.1649A>G	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.091672	0.76756	.	.	ENSG00000178445	ENST00000321612	D	0.97870	-4.58	5.8	5.8	0.92144	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.95834	0.8644	N	0.25825	0.765	0.80722	D	1	P	0.49358	0.923	P	0.50049	0.629	D	0.94716	0.7896	10	0.15066	T	0.55	-22.804	16.146	0.81569	0.0:0.0:0.0:1.0	.	550	P23378	GCSP_HUMAN	R	550	ENSP00000370737:H550R	ENSP00000370737:H550R	H	-	2	0	GLDC	6578634	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.474000	0.81024	2.216000	0.71823	0.460000	0.39030	CAC		0.433	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		18	42	0	0	0	1	0	18	42				
FBXO25	26260	broad.mit.edu	37	8	385615	385615	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:385615A>G	ENST00000276326.5	+	5	408	c.289A>G	c.(289-291)Agg>Ggg	p.R97G	FBXO25_ENST00000352684.2_Splice_Site_p.R30G|FBXO25_ENST00000382824.1_Splice_Site_p.R30G|FBXO25_ENST00000350302.3_Splice_Site_p.R97G	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	97					protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		GCTTTTCCAGAGGCATGGCTA	0.358																																						ENST00000352684.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.e4-1		F-box protein 25							72.0	71.0	71.0					8																	385615		2202	4299	6501	SO:0001630	splice_region_variant	26260					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity	g.chr8:385615A>G	AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"""F-boxes /  ""other"""""	13596	protein-coding gene	gene with protein product		609098	"""F-box only protein 25"""			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.289-1A>G	8.37:g.385615A>G						FBXO25_ENST00000276326.5_Splice_Site_p.R97_splice|FBXO25_ENST00000350302.3_Splice_Site_p.R97_splice|FBXO25_ENST00000382824.1_Splice_Site_p.R30_splice	p.R30_splice	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)	4	505	+		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)	97			Interaction with beta-actin.		Q6PJ83|Q7Z4V4|Q9UKB8	Splice_Site	SNP	ENST00000276326.5	37	c.87_splice	CCDS5953.1	.	.	.	.	.	.	.	.	.	.	.	16.60	3.167712	0.57476	.	.	ENSG00000147364	ENST00000518240;ENST00000350302;ENST00000352684;ENST00000276326;ENST00000447233;ENST00000382824	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	4.49	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.51041	0.1651	M	0.84433	2.695	0.53688	D	0.999976	D;D;D	0.69078	0.997;0.99;0.99	D;P;P	0.79784	0.993;0.864;0.864	T	0.53099	-0.8486	10	0.66056	D	0.02	-10.4615	9.6061	0.39634	0.8231:0.1769:0.0:0.0	.	30;97;97	Q8TCJ0-3;Q8TCJ0-2;Q8TCJ0	.;.;FBX25_HUMAN	G	97;97;30;97;97;30	ENSP00000428872:R97G;ENSP00000342077:R97G;ENSP00000341345:R30G;ENSP00000276326:R97G;ENSP00000372274:R30G	ENSP00000276326:R97G	R	+	1	2	FBXO25	375615	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	3.421000	0.52742	0.675000	0.31264	0.449000	0.29647	AGG		0.358	FBXO25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206710.2	NM_012173	Missense_Mutation	5	93	0	0	0	1	0	5	93				
TMEM80	283232	broad.mit.edu	37	11	700633	700633	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:700633C>A	ENST00000608174.1	+	4	364	c.227C>A	c.(226-228)cCt>cAt	p.P76H	TMEM80_ENST00000397510.3_Missense_Mutation_p.P124H|TMEM80_ENST00000397512.3_Missense_Mutation_p.P68H	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80	76						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTCAGCTATCCTCACCGCTAC	0.517																																						ENST00000397512.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(202-204)cCt>cAt		transmembrane protein 80							379.0	358.0	365.0					11																	700633		2203	4300	6503	SO:0001583	missense	283232					integral to membrane		g.chr11:700633C>A		CCDS41587.1, CCDS41587.2, CCDS73231.1	11p15.5	2005-10-18			ENSG00000177042	ENSG00000177042			27453	protein-coding gene	gene with protein product						12477932	Standard	NM_001042463		Approved	FLJ38216	uc010qwi.2	Q96HE8	OTTHUMG00000133307	ENST00000608174.1:c.227C>A	11.37:g.700633C>A	ENSP00000476563:p.Pro76His					TMEM80_ENST00000397510.2_Missense_Mutation_p.P76H	p.P68H	NM_001042463.1|NM_174940.2	NP_001035928.1|NP_777600.2	Q96HE8	TMM80_HUMAN		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	313	+		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	76					A8MQ01|A8MXY8|B7WNU5	Missense_Mutation	SNP	ENST00000608174.1	37	c.203C>A	CCDS41587.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752131	0.31046	.	.	ENSG00000177042	ENST00000397510;ENST00000397512;ENST00000526170	D;D	0.89681	-2.55;-2.55	2.87	2.87	0.33458	.	0.000000	0.52532	D	0.000075	D	0.93812	0.8021	M	0.83953	2.67	0.46241	D	0.998946	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93435	0.6789	10	0.41790	T	0.15	-8.468	13.613	0.62091	0.0:1.0:0.0:0.0	.	51;68;76	E9PQJ9;Q96HE8-2;Q96HE8	.;.;TMM80_HUMAN	H	76;68;51	ENSP00000380646:P76H;ENSP00000380648:P68H	ENSP00000380646:P76H	P	+	2	0	TMEM80	690633	0.995000	0.38212	0.413000	0.26509	0.005000	0.04900	4.768000	0.62293	1.907000	0.55213	0.491000	0.48974	CCT		0.517	TMEM80-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257104.2	NM_174940		155	437	1	0	1.57643e-78	1	1.67363e-78	155	437				
TENM2	57451	broad.mit.edu	37	5	167671662	167671662	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:167671662C>T	ENST00000518659.1	+	26	5797	c.5758C>T	c.(5758-5760)Cgc>Tgc	p.R1920C	TENM2_ENST00000519204.1_Missense_Mutation_p.R1799C|TENM2_ENST00000520394.1_Missense_Mutation_p.R1681C|TENM2_ENST00000403607.2_Missense_Mutation_p.R1744C|TENM2_ENST00000545108.1_Missense_Mutation_p.R1919C	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1920					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CAAGCAAGGCCGCATCGTGTC	0.577																																						ENST00000519204.1																			0											c.(5395-5397)Cgc>Tgc		teneurin transmembrane protein 2							55.0	64.0	61.0					5																	167671662		2124	4257	6381	SO:0001583	missense	57451							g.chr5:167671662C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5758C>T	5.37:g.167671662C>T	ENSP00000429430:p.Arg1920Cys					TENM2_ENST00000520394.1_Missense_Mutation_p.R1681C|TENM2_ENST00000403607.2_Missense_Mutation_p.R1744C|TENM2_ENST00000518659.1_Missense_Mutation_p.R1920C|TENM2_ENST00000545108.1_Missense_Mutation_p.R1919C	p.R1799C							25	5513	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5395C>T		.	.	.	.	.	.	.	.	.	.	C	21.2	4.113695	0.77210	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.91124	-2.3;-2.29;-2.42;-2.76;-2.79	4.92	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.94515	0.8234	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.995	D	0.94558	0.7760	10	0.87932	D	0	.	10.784	0.46395	0.3905:0.6095:0.0:0.0	.	1919;1920;1681	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	C	1920;1919;1799;1681;1744	ENSP00000429430:R1920C;ENSP00000438635:R1919C;ENSP00000428964:R1799C;ENSP00000427874:R1681C;ENSP00000384905:R1744C	ENSP00000384905:R1744C	R	+	1	0	ODZ2	167604240	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	3.980000	0.56895	2.285000	0.76669	0.655000	0.94253	CGC		0.577	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		20	78	0	0	0	1	0	20	78				
ZC3H14	79882	broad.mit.edu	37	14	89037460	89037460	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:89037460T>C	ENST00000251038.5	+	4	452	c.227T>C	c.(226-228)gTt>gCt	p.V76A	ZC3H14_ENST00000336693.4_Missense_Mutation_p.V42A|ZC3H14_ENST00000555755.1_Missense_Mutation_p.V76A|ZC3H14_ENST00000359301.3_Missense_Mutation_p.V42A|ZC3H14_ENST00000393514.5_Missense_Mutation_p.V76A|ZC3H14_ENST00000302216.8_Missense_Mutation_p.V76A|ZC3H14_ENST00000556945.1_Missense_Mutation_p.V76A|ZC3H14_ENST00000557607.1_5'UTR	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	76						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CTTCGCTCTGTTACAACTGGT	0.313																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(226-228)gTt>gCt		zinc finger CCCH-type containing 14							88.0	89.0	88.0					14																	89037460		2202	4295	6497	SO:0001583	missense	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89037460T>C	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.227T>C	14.37:g.89037460T>C	ENSP00000251038:p.Val76Ala					ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000555755.1_Missense_Mutation_p.V76A|ZC3H14_ENST00000336693.4_Missense_Mutation_p.V42A|ZC3H14_ENST00000556945.1_Missense_Mutation_p.V76A|ZC3H14_ENST00000393514.5_Missense_Mutation_p.V76A|ZC3H14_ENST00000359301.3_Missense_Mutation_p.V42A|ZC3H14_ENST00000302216.8_Missense_Mutation_p.V76A	p.V76A	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN			4	452	+			76					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.227T>C	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	T	16.28	3.079769	0.55753	.	.	ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000554602;ENST00000380684;ENST00000556945;ENST00000556158;ENST00000555799;ENST00000555755;ENST00000393514;ENST00000336693;ENST00000557693;ENST00000555120	T;T;T;T;T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.73337	0.3574	N	0.25380	0.74	0.47584	D	0.99946	D;D;B;D	0.71674	0.99;0.998;0.041;0.998	P;D;B;D	0.65573	0.848;0.936;0.02;0.936	T	0.71013	-0.4715	10	0.26408	T	0.33	-11.1281	14.9194	0.70826	0.0:0.0:0.0:1.0	.	76;76;76;76	G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.;.;.;ZC3HE_HUMAN	A	76;76;76;42;76;42;76;76;63;42;76;76;42;42;42	ENSP00000251038:V76A;ENSP00000352250:V42A;ENSP00000307025:V76A;ENSP00000451638:V42A;ENSP00000450474:V76A;ENSP00000451389:V63A;ENSP00000451489:V42A;ENSP00000452475:V76A;ENSP00000377150:V76A;ENSP00000338002:V42A;ENSP00000452210:V42A;ENSP00000450451:V42A	ENSP00000251038:V76A	V	+	2	0	ZC3H14	88107213	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	6.438000	0.73426	2.254000	0.74563	0.533000	0.62120	GTT		0.313	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		14	32	0	0	0	1	0	14	32				
UNC79	57578	broad.mit.edu	37	14	94039109	94039109	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:94039109C>T	ENST00000393151.2	+	16	2017	c.2017C>T	c.(2017-2019)Cgg>Tgg	p.R673W	UNC79_ENST00000256339.4_Missense_Mutation_p.R496W|UNC79_ENST00000555664.1_Missense_Mutation_p.R673W|UNC79_ENST00000553484.1_Missense_Mutation_p.R673W			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	673					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TATTAGTTGTCGGTTTACAGG	0.393																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(2017-2019)Cgg>Tgg		unc-79 homolog (C. elegans)							248.0	234.0	238.0					14																	94039109		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94039109C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2017C>T	14.37:g.94039109C>T	ENSP00000376858:p.Arg673Trp					UNC79_ENST00000555664.1_Missense_Mutation_p.R673W|UNC79_ENST00000256339.4_Missense_Mutation_p.R496W|UNC79_ENST00000393151.2_Missense_Mutation_p.R673W	p.R673W			Q9P2D8	UNC79_HUMAN			16	2171	+			673					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.2017C>T		.	.	.	.	.	.	.	.	.	.	C	21.3	4.127674	0.77549	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.24350	1.87;1.87;1.86;1.87	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000005	T	0.45337	0.1337	L	0.39245	1.2	0.50632	D	0.999883	D	0.89917	1.0	D	0.81914	0.995	T	0.38436	-0.9661	10	0.87932	D	0	-5.7459	19.3212	0.94240	0.0:1.0:0.0:0.0	.	673	C9JQL1	.	W	496;673;673;673;673	ENSP00000256339:R496W;ENSP00000450868:R673W;ENSP00000451360:R673W;ENSP00000376858:R673W	ENSP00000256339:R496W	R	+	1	2	KIAA1409	93108862	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.456000	0.53000	2.565000	0.86533	0.557000	0.71058	CGG		0.393	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		4	163	0	0	0	1	0	4	163				
MRPS15	64960	broad.mit.edu	37	1	36926325	36926325	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:36926325T>C	ENST00000373116.5	-	5	514	c.353A>G	c.(352-354)aAc>aGc	p.N118S	MRPS15_ENST00000488606.1_5'Flank	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	118					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCCTCTGGGTTTGCAACAAT	0.517																																						ENST00000373116.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14						c.(352-354)aAc>aGc		mitochondrial ribosomal protein S15							165.0	161.0	162.0					1																	36926325		2203	4300	6503	SO:0001583	missense	64960				translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome	g.chr1:36926325T>C	AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"""Mitochondrial ribosomal proteins / small subunits"""	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.353A>G	1.37:g.36926325T>C	ENSP00000362208:p.Asn118Ser						p.N118S	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN			5	514	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	118					B2RD82|Q9H2K1	Missense_Mutation	SNP	ENST00000373116.5	37	c.353A>G	CCDS411.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.087736	0.55968	.	.	ENSG00000116898	ENST00000373116	.	.	.	5.27	5.27	0.74061	S15/NS1, RNA-binding (2);	0.143243	0.64402	D	0.000006	T	0.34571	0.0902	L	0.41710	1.295	0.29401	N	0.861944	B	0.34103	0.437	B	0.35550	0.205	T	0.34079	-0.9843	9	0.36615	T	0.2	-10.05	11.0714	0.48006	0.0:0.0:0.1549:0.8451	.	118	P82914	RT15_HUMAN	S	118	.	ENSP00000362208:N118S	N	-	2	0	MRPS15	36698912	1.000000	0.71417	0.991000	0.47740	0.566000	0.35808	2.810000	0.47979	2.119000	0.64992	0.533000	0.62120	AAC		0.517	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022052.2	NM_031280		6	84	0	0	0	1	0	6	84				
OVCH1	341350	broad.mit.edu	37	12	29649501	29649501	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:29649501T>C	ENST00000318184.5	-	2	170	c.171A>G	c.(169-171)ggA>ggG	p.G57G		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	57	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GCCATGGATGTCCAGTCACTG	0.393																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(169-171)ggA>ggG		ovochymase 1							100.0	97.0	98.0					12																	29649501		1886	4097	5983	SO:0001819	synonymous_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29649501T>C	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.171A>G	12.37:g.29649501T>C							p.G57G	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			2	170	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		57			Peptidase S1 1.			Silent	SNP	ENST00000318184.5	37	c.171A>G																																																																																					0.393	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		23	77	0	0	0	1	0	23	77				
PPP1R10	5514	broad.mit.edu	37	6	30569889	30569889	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:30569889C>T	ENST00000376511.2	-	19	3089	c.2537G>A	c.(2536-2538)cGt>cAt	p.R846H		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	846	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TTCATGGGGACGATGTCCACC	0.672																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(2536-2538)cGt>cAt		protein phosphatase 1, regulatory subunit 10							88.0	90.0	89.0					6																	30569889		1508	2708	4216	SO:0001583	missense	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30569889C>T	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2537G>A	6.37:g.30569889C>T	ENSP00000365694:p.Arg846His						p.R846H	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			19	3089	-			846			Gly-rich.		O00405	Missense_Mutation	SNP	ENST00000376511.2	37	c.2537G>A	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	c	13.27	2.185899	0.38609	.	.	ENSG00000204569	ENST00000376511	T	0.64803	-0.12	4.25	3.38	0.38709	.	0.078259	0.49916	D	0.000122	T	0.40119	0.1104	N	0.08118	0	0.27353	N	0.956198	D	0.71674	0.998	D	0.64595	0.927	T	0.36720	-0.9736	10	0.32370	T	0.25	-3.2194	10.0867	0.42423	0.0:0.8996:0.0:0.1004	.	846	Q96QC0	PP1RA_HUMAN	H	846	ENSP00000365694:R846H	ENSP00000365694:R846H	R	-	2	0	PPP1R10	30677868	0.999000	0.42202	0.834000	0.33040	0.970000	0.65996	4.808000	0.62583	1.140000	0.42260	0.431000	0.28591	CGT		0.672	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		40	123	0	0	0	1	0	40	123				
GPAM	57678	broad.mit.edu	37	10	113933601	113933601	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:113933601A>G	ENST00000348367.4	-	7	613	c.416T>C	c.(415-417)gTa>gCa	p.V139A	GPAM_ENST00000423155.1_Missense_Mutation_p.V139A|GPAM_ENST00000369425.1_Missense_Mutation_p.V139A			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	139					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TGCCTCTTGTACTCTGGTATG	0.358																																					Ovarian(161;1017 2606 18293 52943)	ENST00000348367.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(415-417)gTa>gCa		glycerol-3-phosphate acyltransferase, mitochondrial							73.0	69.0	70.0					10																	113933601		2203	4300	6503	SO:0001583	missense	57678				phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr10:113933601A>G	AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.416T>C	10.37:g.113933601A>G	ENSP00000265276:p.Val139Ala					GPAM_ENST00000423155.1_Missense_Mutation_p.V139A|GPAM_ENST00000369425.1_Missense_Mutation_p.V139A	p.V139A			Q9HCL2	GPAT1_HUMAN		Epithelial(162;0.0306)|all cancers(201;0.123)	7	613	-			139					Q5VW51|Q86TA3	Missense_Mutation	SNP	ENST00000348367.4	37	c.416T>C	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021734	0.54576	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.74632	-0.86;-0.86;-0.85	6.02	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.73164	0.3552	M	0.73962	2.25	0.58432	D	0.999997	B;B	0.14012	0.009;0.004	B;B	0.14578	0.011;0.007	T	0.70726	-0.4793	10	0.87932	D	0	-14.7488	10.8584	0.46812	0.929:0.0:0.071:0.0	.	139;139	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	A	139	ENSP00000265276:V139A;ENSP00000409242:V139A;ENSP00000358433:V139A	ENSP00000265276:V139A	V	-	2	0	GPAM	113923591	1.000000	0.71417	0.979000	0.43373	0.860000	0.49131	6.161000	0.71868	1.093000	0.41377	0.528000	0.53228	GTA		0.358	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	NM_020918		15	54	0	0	0	1	0	15	54				
APCDD1L	164284	broad.mit.edu	37	20	57036286	57036286	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:57036286T>C	ENST00000371149.3	-	4	1296	c.1066A>G	c.(1066-1068)Aca>Gca	p.T356A	APCDD1L_ENST00000491015.1_5'UTR|APCDD1L_ENST00000439429.1_Missense_Mutation_p.T367A	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	356						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			TGGGCCCGTGTGACCTCAAAC	0.687																																						ENST00000371149.3																			0				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18						c.(1066-1068)Aca>Gca		adenomatosis polyposis coli down-regulated 1-like							34.0	36.0	35.0					20																	57036286		2203	4299	6502	SO:0001583	missense	164284					integral to membrane		g.chr20:57036286T>C	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.1066A>G	20.37:g.57036286T>C	ENSP00000360191:p.Thr356Ala					APCDD1L_ENST00000491015.1_5'UTR|APCDD1L_ENST00000439429.1_Missense_Mutation_p.T367A	p.T356A	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		4	1296	-	Lung NSC(12;0.000856)|all_lung(29;0.0025)		356						Missense_Mutation	SNP	ENST00000371149.3	37	c.1066A>G	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.989505	0.53934	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.17691	2.26;2.26	4.36	4.36	0.52297	.	0.056880	0.64402	D	0.000002	T	0.44159	0.1280	M	0.83483	2.645	0.38727	D	0.953573	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.53236	-0.8467	10	0.51188	T	0.08	-19.3823	13.5797	0.61896	0.0:0.0:0.0:1.0	.	367;356	F5H6V6;Q8NCL9	.;APCDL_HUMAN	A	356;367	ENSP00000360191:T356A;ENSP00000413261:T367A	ENSP00000360191:T356A	T	-	1	0	APCDD1L	56469692	1.000000	0.71417	0.534000	0.28014	0.434000	0.31775	5.273000	0.65564	1.626000	0.50381	0.460000	0.39030	ACA		0.687	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		4	66	0	0	0	1	0	4	66				
CSNK1A1L	122011	broad.mit.edu	37	13	37679168	37679168	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:37679168T>C	ENST00000379800.3	-	1	635	c.226A>G	c.(226-228)Atg>Gtg	p.M76V		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	76	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.M76V(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TACCAGTGCATGTGGGGGATG	0.493																																						ENST00000379800.3																			1	Substitution - Missense(1)	p.M76V(1)	endometrium(1)	NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37						c.(226-228)Atg>Gtg		casein kinase 1, alpha 1-like							136.0	120.0	125.0					13																	37679168		2203	4300	6503	SO:0001583	missense	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37679168T>C	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.226A>G	13.37:g.37679168T>C	ENSP00000369126:p.Met76Val						p.M76V	NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	635	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	76			Protein kinase.		Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.226A>G	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.647697	0.00792	.	.	ENSG00000180138	ENST00000379800	T	0.17213	2.29	0.778	-0.687	0.11320	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.150662	0.64402	N	0.000020	T	0.02970	0.0088	N	0.00690	-1.25	0.24923	N	0.991966	B	0.02656	0.0	B	0.06405	0.002	T	0.37619	-0.9698	10	0.09590	T	0.72	.	2.9712	0.05924	0.0:0.3274:0.0:0.6726	.	76	Q8N752	KC1AL_HUMAN	V	76	ENSP00000369126:M76V	ENSP00000369126:M76V	M	-	1	0	CSNK1A1L	36577168	0.996000	0.38824	0.475000	0.27278	0.368000	0.29767	1.129000	0.31381	-0.242000	0.09667	-0.441000	0.05720	ATG		0.493	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		32	110	0	0	0	1	0	32	110				
ZBED4	9889	broad.mit.edu	37	22	50280302	50280302	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:50280302C>T	ENST00000216268.5	+	2	3469	c.2992C>T	c.(2992-2994)Cac>Tac	p.H998Y		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	998						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TGCCACCCTCCACGACCCGCG	0.597																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2992-2994)Cac>Tac		zinc finger, BED-type containing 4							43.0	30.0	35.0					22																	50280302		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50280302C>T	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2992C>T	22.37:g.50280302C>T	ENSP00000216268:p.His998Tyr						p.H998Y	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	3469	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	998					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.2992C>T	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490387	0.84962	.	.	ENSG00000100426	ENST00000216268	T	0.46063	0.88	5.42	5.42	0.78866	Ribonuclease H-like (1);	0.113216	0.64402	D	0.000015	T	0.54062	0.1835	L	0.60455	1.87	0.80722	D	1	D	0.61080	0.989	P	0.52031	0.688	T	0.53704	-0.8401	10	0.52906	T	0.07	-20.2114	19.406	0.94647	0.0:1.0:0.0:0.0	.	998	O75132	ZBED4_HUMAN	Y	998	ENSP00000216268:H998Y	ENSP00000216268:H998Y	H	+	1	0	ZBED4	48666306	0.998000	0.40836	0.827000	0.32855	0.817000	0.46193	4.369000	0.59511	2.822000	0.97130	0.655000	0.94253	CAC		0.597	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		6	27	0	0	0	1	0	6	27				
MIPEP	4285	broad.mit.edu	37	13	24444256	24444256	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:24444256T>C	ENST00000382172.3	-	6	780	c.682A>G	c.(682-684)Aag>Gag	p.K228E		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	228					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TTCTCAATCTTGTTGGGAAAA	0.403																																						ENST00000382172.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27						c.(682-684)Aag>Gag		mitochondrial intermediate peptidase							142.0	121.0	128.0					13																	24444256		2203	4300	6503	SO:0001583	missense	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24444256T>C		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.682A>G	13.37:g.24444256T>C	ENSP00000371607:p.Lys228Glu						p.K228E	NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	6	780	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	228					Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	c.682A>G	CCDS9303.1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.261281	0.23051	.	.	ENSG00000027001	ENST00000382172	T	0.07021	3.23	5.92	5.92	0.95590	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.098122	0.64402	D	0.000005	T	0.09202	0.0227	L	0.60455	1.87	0.32741	N	0.507682	B	0.18013	0.025	B	0.23275	0.045	T	0.17258	-1.0375	10	0.02654	T	1	.	12.2455	0.54568	0.0:0.0:0.1417:0.8583	.	228	Q99797	MIPEP_HUMAN	E	228	ENSP00000371607:K228E	ENSP00000371607:K228E	K	-	1	0	MIPEP	23342256	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.472000	0.60189	2.254000	0.74563	0.528000	0.53228	AAG		0.403	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1			7	102	0	0	0	1	0	7	102				
ADAMTSL4	54507	broad.mit.edu	37	1	150529726	150529726	+	Silent	SNP	G	G	A	rs370147831		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:150529726G>A	ENST00000369038.2	+	10	2163	c.1962G>A	c.(1960-1962)ccG>ccA	p.P654P	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Silent_p.P654P|ADAMTSL4_ENST00000369041.5_Silent_p.P654P|ADAMTSL4_ENST00000369039.5_Silent_p.P677P			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	654	Pro-rich. {ECO:0000255}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGCCCGCCCCGCCCCATCCCA	0.672																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(1960-1962)ccG>ccA		ADAMTS-like 4		G	,	1,4405		0,1,2202	21.0	22.0	21.0		1962,1962	-11.0	0.0	1		21	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	ADAMTSL4	NM_019032.4,NM_025008.3	,	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	,	654/1075,654/878	150529726	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150529726G>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1962G>A	1.37:g.150529726G>A						ADAMTSL4_ENST00000369041.5_Silent_p.P654P|ADAMTSL4_ENST00000369038.2_Silent_p.P654P|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Silent_p.P677P	p.P654P	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		12	2198	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		654			Pro-rich.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	ENST00000369038.2	37	c.1962G>A	CCDS955.1																																																																																				0.672	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		3	23	0	0	0	1	0	3	23				
TSC1	7248	broad.mit.edu	37	9	135771891	135771891	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:135771891T>C	ENST00000298552.3	-	23	3447	c.3226A>G	c.(3226-3228)Acc>Gcc	p.T1076A	TSC1_ENST00000545250.1_Missense_Mutation_p.T1025A|TSC1_ENST00000440111.2_Missense_Mutation_p.T1076A	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1076					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCCACAGTGGTGGGGATGCTG	0.557			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000298552.3			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	"""D, Mis, N, F, S"""	tuberous sclerosis 1 gene			"""E, O"""		"""hamartoma, renal cell"""			1	Unknown(1)	p.?(1)	bone(1)	NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65						c.(3226-3228)Acc>Gcc		tuberous sclerosis 1							82.0	81.0	82.0					9																	135771891		2203	4300	6503	SO:0001583	missense	7248	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135771891T>C	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.3226A>G	9.37:g.135771891T>C	ENSP00000298552:p.Thr1076Ala					TSC1_ENST00000440111.2_Missense_Mutation_p.T1076A|TSC1_ENST00000545250.1_Missense_Mutation_p.T1025A	p.T1076A	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	23	3447	-			1076					B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	c.3226A>G	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	T	3.656	-0.070454	0.07228	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	T;T;T	0.81078	-1.45;-1.45;-1.26	5.41	-1.44	0.08856	.	0.889113	0.09995	N	0.729219	T	0.67297	0.2878	L	0.47716	1.5	0.34535	D	0.709675	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.55872	-0.8072	10	0.16420	T	0.52	0.0301	3.9126	0.09210	0.127:0.474:0.1462:0.2527	.	1025;1076	B7Z897;Q92574	.;TSC1_HUMAN	A	1076;1076;1025	ENSP00000298552:T1076A;ENSP00000394524:T1076A;ENSP00000444017:T1025A	ENSP00000298552:T1076A	T	-	1	0	TSC1	134761712	0.012000	0.17670	0.000000	0.03702	0.389000	0.30415	0.170000	0.16663	-0.189000	0.10482	0.460000	0.39030	ACC		0.557	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			22	88	0	0	0	1	0	22	88				
LRP8	7804	broad.mit.edu	37	1	53722996	53722996	+	Missense_Mutation	SNP	C	C	G	rs373586677		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:53722996C>G	ENST00000306052.6	-	15	2451	c.2350G>C	c.(2350-2352)Gtc>Ctc	p.V784L	LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000371454.2_Missense_Mutation_p.V784L|LRP8_ENST00000465675.1_Missense_Mutation_p.V337L|LRP8_ENST00000347547.2_Missense_Mutation_p.V614L|LRP8_ENST00000354412.3_Intron	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	784	Clustered O-linked oligosaccharides.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GAGCTTGGGACTGCAGCTGTC	0.592																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(2350-2352)Gtc>Ctc		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor		C	LEU/VAL,LEU/VAL,,LEU/VAL	1,4405	2.1+/-5.4	0,1,2202	279.0	229.0	246.0		2350,2350,,1840	3.1	0.0	1		246	0,8600		0,0,4300	no	missense,missense,intron,missense	LRP8	NM_001018054.2,NM_004631.4,NM_017522.4,NM_033300.3	32,32,,32	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign,benign,,benign	784/905,784/964,,614/794	53722996	1,13005	2203	4300	6503	SO:0001583	missense	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53722996C>G	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.2350G>C	1.37:g.53722996C>G	ENSP00000303634:p.Val784Leu					LRP8_ENST00000354412.3_Intron|LRP8_ENST00000465675.1_Missense_Mutation_p.V337L|LRP8_ENST00000371454.2_Missense_Mutation_p.V784L|LRP8_ENST00000347547.2_Missense_Mutation_p.V614L|LRP8_ENST00000460214.1_5'UTR	p.V784L	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			15	2451	-			784			Clustered O-linked oligosaccharides.		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	c.2350G>C	CCDS578.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151218	0.38021	2.27E-4	0.0	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000347547	D;D;D;D	0.93019	-2.69;-2.68;-3.15;-2.66	5.12	3.12	0.35913	.	.	.	.	.	D	0.82531	0.5057	N	0.12961	0.28	0.09310	N	1	B;B;B;B;B	0.30914	0.0;0.002;0.3;0.0;0.0	B;B;B;B;B	0.29785	0.0;0.003;0.107;0.002;0.0	T	0.71140	-0.4679	9	0.12766	T	0.61	.	3.2213	0.06716	0.2053:0.5591:0.0:0.2355	.	337;614;784;784;337	B3KU40;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;LRP8_HUMAN;.	L	784;784;337;614	ENSP00000303634:V784L;ENSP00000360509:V784L;ENSP00000437009:V337L;ENSP00000334522:V614L	ENSP00000303634:V784L	V	-	1	0	LRP8	53495584	0.002000	0.14202	0.010000	0.14722	0.983000	0.72400	0.475000	0.22164	1.528000	0.49103	0.650000	0.86243	GTC		0.592	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		24	49	0	0	0	1	0	24	49				
SLC25A48	153328	broad.mit.edu	37	5	135188294	135188294	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:135188294A>G	ENST00000420621.1	+	4	377	c.205A>G	c.(205-207)Att>Gtt	p.I69V	SLC25A48_ENST00000412661.2_Missense_Mutation_p.I69V|SLC25A48_ENST00000274513.5_Missense_Mutation_p.I69V|SLC25A48_ENST00000433282.2_Missense_Mutation_p.I15V|SLC25A48_ENST00000425402.1_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	69					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CCTCGCCAGCATTGCCGTCTA	0.627																																						ENST00000274513.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(205-207)Att>Gtt		solute carrier family 25, member 48							133.0	141.0	139.0					5																	135188294		2042	4200	6242	SO:0001583	missense	153328				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr5:135188294A>G		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.205A>G	5.37:g.135188294A>G	ENSP00000407973:p.Ile69Val					SLC25A48_ENST00000420621.1_Missense_Mutation_p.I69V|SLC25A48_ENST00000412661.2_Missense_Mutation_p.I69V|SLC25A48_ENST00000433282.2_Missense_Mutation_p.I15V|SLC25A48_ENST00000425402.1_Intron	p.I69V			Q6ZT89	S2548_HUMAN			4	377	+			69					Q8TAV9	Missense_Mutation	SNP	ENST00000420621.1	37	c.205A>G		.	.	.	.	.	.	.	.	.	.	A	3.381	-0.126290	0.06795	.	.	ENSG00000145832	ENST00000274513;ENST00000420621;ENST00000433282;ENST00000412661	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.08	3.88	0.44766	.	0.161336	0.53938	N	0.000060	T	0.51210	0.1661	N	0.05031	-0.125	0.54753	D	0.999985	B;B	0.29162	0.008;0.235	B;B	0.25140	0.011;0.058	T	0.51052	-0.8754	10	0.02654	T	1	-34.822	10.9775	0.47475	0.9249:0.0:0.0751:0.0	.	69;69	Q6ZT89-3;Q6ZT89-2	.;.	V	69;69;15;69	ENSP00000274513:I69V;ENSP00000407973:I69V;ENSP00000399834:I15V;ENSP00000413049:I69V	ENSP00000274513:I69V	I	+	1	0	SLC25A48	135216193	1.000000	0.71417	0.967000	0.41034	0.956000	0.61745	5.333000	0.65917	0.732000	0.32470	0.379000	0.24179	ATT		0.627	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_145282		20	264	0	0	0	1	0	20	264				
TRHR	7201	broad.mit.edu	37	8	110131623	110131623	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:110131623C>G	ENST00000518632.1	+	3	1487	c.1136C>G	c.(1135-1137)gCc>gGc	p.A379G	TRHR_ENST00000311762.2_Missense_Mutation_p.A379G			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	379					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TACCTGTCTGCCACAAAAGTG	0.418																																						ENST00000518632.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(1135-1137)gCc>gGc		thyrotropin-releasing hormone receptor							103.0	96.0	98.0					8																	110131623		2203	4299	6502	SO:0001583	missense	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110131623C>G		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.1136C>G	8.37:g.110131623C>G	ENSP00000430711:p.Ala379Gly					TRHR_ENST00000311762.2_Missense_Mutation_p.A379G	p.A379G			P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		3	1487	+			379					Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	c.1136C>G	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447677	0.26074	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.66638	-0.22;-0.22	5.56	3.65	0.41850	.	0.191339	0.41500	D	0.000869	T	0.39332	0.1074	N	0.03608	-0.345	0.24479	N	0.994359	B	0.02656	0.0	B	0.01281	0.0	T	0.20505	-1.0273	10	0.24483	T	0.36	-11.4667	9.8882	0.41274	0.1377:0.7895:0.0:0.0728	.	379	P34981	TRFR_HUMAN	G	379	ENSP00000430711:A379G;ENSP00000309818:A379G	ENSP00000309818:A379G	A	+	2	0	TRHR	110200799	0.997000	0.39634	0.999000	0.59377	0.837000	0.47467	2.633000	0.46519	1.493000	0.48517	0.585000	0.79938	GCC		0.418	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			14	140	0	0	0	1	0	14	140				
APC	324	broad.mit.edu	37	5	112177340	112177340	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:112177340A>G	ENST00000457016.1	+	16	6429	c.6049A>G	c.(6049-6051)Acc>Gcc	p.T2017A	APC_ENST00000508376.2_Missense_Mutation_p.T2017A|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.T2017A			P25054	APC_HUMAN	adenomatous polyposis coli	2017	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		tgttgaagataccccagtttg	0.418		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		1	Unknown(1)	p.?(1)	skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(6049-6051)Acc>Gcc		adenomatous polyposis coli							87.0	87.0	87.0					5																	112177340		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112177340A>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6049A>G	5.37:g.112177340A>G	ENSP00000413133:p.Thr2017Ala	TSP Lung(16;0.13)				APC_ENST00000508376.2_Missense_Mutation_p.T2017A|APC_ENST00000257430.4_Missense_Mutation_p.T2017A|CTC-554D6.1_ENST00000520401.1_Intron	p.T2017A			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	6429	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2017			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.6049A>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.005219	0.54254	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.95272	-3.66;-3.66;-3.66	5.86	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.91590	0.7343	L	0.50333	1.59	0.53005	D	0.999964	P;P	0.40398	0.716;0.716	B;B	0.38327	0.271;0.271	D	0.89039	0.3447	9	.	.	.	-12.3136	13.2092	0.59815	0.867:0.133:0.0:0.0	.	2019;2017	Q4LE70;P25054	.;APC_HUMAN	A	2017	ENSP00000413133:T2017A;ENSP00000257430:T2017A;ENSP00000427089:T2017A	.	T	+	1	0	APC	112205239	1.000000	0.71417	0.922000	0.36590	0.988000	0.76386	8.730000	0.91510	1.020000	0.39573	0.528000	0.53228	ACC		0.418	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		33	90	0	0	0	1	0	33	90				
DST	667	broad.mit.edu	37	6	56497784	56497784	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:56497784A>T	ENST00000361203.3	-	24	3047	c.3040T>A	c.(3040-3042)Tct>Act	p.S1014T	DST_ENST00000370754.5_Missense_Mutation_p.S1192T|DST_ENST00000518935.1_Missense_Mutation_p.S688T|DST_ENST00000244364.6_Missense_Mutation_p.S688T|DST_ENST00000370788.2_Missense_Mutation_p.S1014T|DST_ENST00000370765.6_Missense_Mutation_p.S688T|DST_ENST00000312431.6_Missense_Mutation_p.S1014T|DST_ENST00000446842.2_Missense_Mutation_p.S688T|DST_ENST00000421834.2_Missense_Mutation_p.S1014T|DST_ENST00000370769.4_Missense_Mutation_p.S1014T			Q03001	DYST_HUMAN	dystonin	1014					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAAAACGAGATTGTAGATTA	0.358																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(3574-3576)Tct>Act		dystonin							112.0	109.0	110.0					6																	56497784		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56497784A>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3040T>A	6.37:g.56497784A>T	ENSP00000354508:p.Ser1014Thr					DST_ENST00000370769.4_Missense_Mutation_p.S1014T|DST_ENST00000312431.6_Missense_Mutation_p.S1014T|DST_ENST00000421834.2_Missense_Mutation_p.S1014T|DST_ENST00000370788.2_Missense_Mutation_p.S1014T|DST_ENST00000446842.2_Missense_Mutation_p.S688T|DST_ENST00000361203.3_Missense_Mutation_p.S1014T|DST_ENST00000370765.6_Missense_Mutation_p.S688T|DST_ENST00000244364.6_Missense_Mutation_p.S688T|DST_ENST00000518935.1_Missense_Mutation_p.S688T	p.S1192T			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		27	3573	-	Lung NSC(77;0.103)		1014					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.3574T>A		.	.	.	.	.	.	.	.	.	.	A	17.78	3.472676	0.63737	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.69	5.69	0.88448	.	0.233704	0.30329	N	0.009879	T	0.31009	0.0783	N	0.20401	0.57	0.28618	N	0.908345	D;D;D;B;P;P;D;D	0.76494	0.976;0.982;0.988;0.402;0.508;0.72;0.988;0.999	P;D;P;B;B;P;P;D	0.83275	0.696;0.952;0.696;0.119;0.234;0.692;0.696;0.996	T	0.10870	-1.0611	9	0.14252	T	0.57	.	16.2962	0.82776	1.0:0.0:0.0:0.0	.	1014;1014;1192;688;688;688;1014;688	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	T	688;1192;1014;1014;688;1014;1014;1014;688;1054;688;688	ENSP00000244364:S688T;ENSP00000359790:S1192T;ENSP00000359805:S1014T;ENSP00000400883:S1014T;ENSP00000393645:S688T;ENSP00000307959:S1014T;ENSP00000359824:S1014T;ENSP00000354508:S1014T;ENSP00000404924:S688T;ENSP00000431030:S1054T;ENSP00000359801:S688T;ENSP00000431003:S688T	ENSP00000244364:S688T	S	-	1	0	DST	56605743	1.000000	0.71417	0.927000	0.36925	0.594000	0.36715	4.644000	0.61397	2.305000	0.77605	0.529000	0.55759	TCT		0.358	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		12	54	0	0	0	1	0	12	54				
WBSCR27	155368	broad.mit.edu	37	7	73254873	73254873	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:73254873C>T	ENST00000297873.4	-	4	308	c.259G>A	c.(259-261)Gct>Act	p.A87T		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	87										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				AAGCCTGGAGCCCGCAGCTGG	0.662																																						ENST00000297873.4																			0				NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5						c.(259-261)Gct>Act		Williams Beuren syndrome chromosome region 27							14.0	17.0	16.0					7																	73254873		2164	4268	6432	SO:0001583	missense	155368							g.chr7:73254873C>T	AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.259G>A	7.37:g.73254873C>T	ENSP00000297873:p.Ala87Thr						p.A87T	NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN			4	308	-		Lung NSC(55;0.159)	87						Missense_Mutation	SNP	ENST00000297873.4	37	c.259G>A	CCDS5561.1	.	.	.	.	.	.	.	.	.	.	C	4.585	0.108713	0.08780	.	.	ENSG00000165171	ENST00000297873	T	0.35421	1.31	4.45	3.28	0.37604	.	1.072840	0.07190	N	0.855507	T	0.24005	0.0581	L	0.31845	0.965	0.27169	N	0.960978	B	0.31383	0.321	B	0.28465	0.09	T	0.18241	-1.0343	10	0.14656	T	0.56	-10.8065	5.4504	0.16563	0.0:0.8096:0.0:0.1904	.	87	Q8N6F8	WBS27_HUMAN	T	87	ENSP00000297873:A87T	ENSP00000297873:A87T	A	-	1	0	WBSCR27	72892809	0.542000	0.26426	1.000000	0.80357	0.033000	0.12548	0.778000	0.26732	2.159000	0.67721	0.462000	0.41574	GCT		0.662	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252312.1	NM_152559		10	24	0	0	0	1	0	10	24				
AGO2	27161	broad.mit.edu	37	8	141551423	141551423	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:141551423T>C	ENST00000220592.5	-	15	1986	c.1874A>G	c.(1873-1875)tAc>tGc	p.Y625C	AGO2_ENST00000519980.1_Missense_Mutation_p.Y625C	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	625	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|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)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										GGTGGCGCAGTAGCGATTGGG	0.622																																						ENST00000220592.5																			0											c.(1873-1875)tAc>tGc		argonaute RISC catalytic component 2							71.0	56.0	61.0					8																	141551423		2203	4300	6503	SO:0001583	missense	27161							g.chr8:141551423T>C	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1874A>G	8.37:g.141551423T>C	ENSP00000220592:p.Tyr625Cys					AGO2_ENST00000519980.1_Missense_Mutation_p.Y625C	p.Y625C	NM_012154.3	NP_036286.2					15	1986	-								Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.1874A>G	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.463313	0.84425	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.35973	1.28;1.28	5.36	5.36	0.76844	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	H	0.95470	3.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81415	-0.0943	10	0.87932	D	0	-5.0112	15.6359	0.76953	0.0:0.0:0.0:1.0	.	625;625	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	C	625	ENSP00000220592:Y625C;ENSP00000430176:Y625C	ENSP00000220592:Y625C	Y	-	2	0	EIF2C2	141620605	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.965000	0.87945	2.135000	0.66039	0.528000	0.53228	TAC		0.622	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			7	40	0	0	0	1	0	7	40				
CDK12	51755	broad.mit.edu	37	17	37650864	37650864	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:37650864G>A	ENST00000447079.4	+	5	2369	c.2336G>A	c.(2335-2337)cGt>cAt	p.R779H	CDK12_ENST00000430627.2_Missense_Mutation_p.R779H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	779	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAAATCCTTCGTCAGTTAatc	0.408			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(2335-2337)cGt>cAt		cyclin-dependent kinase 12							75.0	66.0	69.0					17																	37650864		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37650864G>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2336G>A	17.37:g.37650864G>A	ENSP00000398880:p.Arg779His	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.R779H	p.R779H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			5	2369	+			779			Protein kinase.		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.2336G>A	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692931	0.88735	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.66995	-0.24;-0.24	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000162	T	0.77942	0.4206	L	0.42632	1.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.79725	-0.1683	10	0.87932	D	0	-8.3296	19.1644	0.93548	0.0:0.0:1.0:0.0	.	778;779;779	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	H	779	ENSP00000407720:R779H;ENSP00000398880:R779H	ENSP00000407720:R779H	R	+	2	0	CDK12	34904390	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.813000	0.99286	2.601000	0.87937	0.561000	0.74099	CGT		0.408	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		9	26	0	0	0	1	0	9	26				
SLCO5A1	81796	broad.mit.edu	37	8	70594434	70594434	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:70594434A>G	ENST00000260126.4	-	7	2473	c.1767T>C	c.(1765-1767)ggT>ggC	p.G589G	SLCO5A1_ENST00000530307.1_Silent_p.G534G|SLCO5A1_ENST00000524945.1_Silent_p.G589G	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	589	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGCTAAGATTACCACTATTAA	0.408																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1765-1767)ggT>ggC		solute carrier organic anion transporter family, member 5A1							163.0	139.0	147.0					8																	70594434		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70594434A>G	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1767T>C	8.37:g.70594434A>G						SLCO5A1_ENST00000524945.1_Silent_p.G589G|SLCO5A1_ENST00000530307.1_Silent_p.G534G	p.G589G	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		7	2473	-	Breast(64;0.0654)		589			Kazal-like.		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.1767T>C	CCDS6205.1																																																																																				0.408	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		57	117	0	0	0	1	0	57	117				
MYLK	4638	broad.mit.edu	37	3	123419195	123419195	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:123419195G>A	ENST00000475616.1	-	15	3119	c.3120C>T	c.(3118-3120)aaC>aaT	p.N1040N	MYLK_ENST00000359169.1_Silent_p.N1040N|MYLK_ENST00000346322.5_Silent_p.N971N|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360772.3_Silent_p.N1040N|MYLK_ENST00000360304.3_Silent_p.N1040N			Q15746	MYLK_HUMAN	myosin light chain kinase	1040	6 X 12 AA approximate tandem repeats.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGGCTTGGCGTTGCCCATTG	0.557																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3118-3120)aaC>aaT		myosin light chain kinase							163.0	169.0	167.0					3																	123419195		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419195G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3120C>T	3.37:g.123419195G>A						MYLK_ENST00000346322.5_Silent_p.N971N|MYLK_ENST00000360304.3_Silent_p.N1040N|MYLK_ENST00000475616.1_Silent_p.N1040N|MYLK_ENST00000359169.1_Silent_p.N1040N	p.N1040N			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	3498	-		Lung NSC(201;0.0496)	1040			6 X 12 AA approximate tandem repeats.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.3120C>T	CCDS46896.1																																																																																				0.557	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		90	267	0	0	0	1	0	90	267				
ITGA7	3679	broad.mit.edu	37	12	56091548	56091548	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56091548A>G	ENST00000555728.1	-	10	1500	c.1472T>C	c.(1471-1473)tTg>tCg	p.L491S	ITGA7_ENST00000257879.6_Missense_Mutation_p.L447S|ITGA7_ENST00000553804.1_Missense_Mutation_p.L451S|ITGA7_ENST00000394230.2_Missense_Mutation_p.L451S|ITGA7_ENST00000452168.2_Missense_Mutation_p.L354S|ITGA7_ENST00000347027.6_Missense_Mutation_p.L447S|ITGA7_ENST00000394229.2_Missense_Mutation_p.L447S|ITGA7_ENST00000257880.7_Missense_Mutation_p.L491S			Q13683	ITA7_HUMAN	integrin, alpha 7	491					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATCCATATCCAAGCTGCCTGA	0.607																																						ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1471-1473)tTg>tCg		integrin, alpha 7							90.0	88.0	88.0					12																	56091548		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56091548A>G		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1472T>C	12.37:g.56091548A>G	ENSP00000452387:p.Leu491Ser					ITGA7_ENST00000257879.6_Missense_Mutation_p.L447S|ITGA7_ENST00000347027.6_Missense_Mutation_p.L447S|ITGA7_ENST00000394229.2_Missense_Mutation_p.L447S|ITGA7_ENST00000452168.2_Missense_Mutation_p.L354S|ITGA7_ENST00000555728.1_Missense_Mutation_p.L491S|ITGA7_ENST00000394230.2_Missense_Mutation_p.L451S|ITGA7_ENST00000553804.1_Missense_Mutation_p.L451S	p.L491S			Q13683	ITA7_HUMAN			10	1691	-			491					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.1472T>C		.	.	.	.	.	.	.	.	.	.	A	16.56	3.156971	0.57259	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	4.28	4.28	0.50868	.	0.103414	0.40144	N	0.001179	T	0.75324	0.3834	L	0.37466	1.105	0.49915	D	0.999837	P;B;D;D	0.76494	0.946;0.1;0.985;0.999	P;B;D;D	0.72075	0.802;0.065;0.956;0.976	T	0.76157	-0.3062	10	0.51188	T	0.08	.	11.698	0.51554	1.0:0.0:0.0:0.0	.	354;491;451;510	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	S	451;447;447;354;491;451;447;491;491	ENSP00000452120:L451S;ENSP00000257879:L447S;ENSP00000343009:L447S;ENSP00000393844:L354S;ENSP00000257880:L491S;ENSP00000377777:L451S;ENSP00000377776:L447S;ENSP00000452387:L491S	ENSP00000257879:L447S	L	-	2	0	ITGA7	54377815	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	8.837000	0.92110	1.731000	0.51592	0.459000	0.35465	TTG		0.607	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		6	190	0	0	0	1	0	6	190				
SAE1	10055	broad.mit.edu	37	19	47712512	47712512	+	3'UTR	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:47712512C>G	ENST00000270225.7	+	0	1113				SAE1_ENST00000598840.1_3'UTR|SAE1_ENST00000540850.1_3'UTR|SAE1_ENST00000413379.3_Nonsense_Mutation_p.S277*|SAE1_ENST00000392776.3_3'UTR	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1						cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		CAAGTGAACTCAAGATTTGGC	0.547																																						ENST00000413379.3																			0				endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13						c.(829-831)tCa>tGa		SUMO1 activating enzyme subunit 1							105.0	99.0	101.0					19																	47712512		2203	4300	6503	SO:0001624	3_prime_UTR_variant	10055				protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity	g.chr19:47712512C>G	BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"""Ubiquitin-like modifier activating enzymes"""	30660	protein-coding gene	gene with protein product	"""activator Of sumo 1"""	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.*4C>G	19.37:g.47712512C>G						SAE1_ENST00000270225.7_3'UTR|SAE1_ENST00000392776.3_3'UTR|SAE1_ENST00000540850.1_3'UTR|SAE1_ENST00000598840.1_3'UTR	p.S277*	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)	7	932	+		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)	0					B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Nonsense_Mutation	SNP	ENST00000270225.7	37	c.830C>G	CCDS12696.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673008	0.29693	.	.	ENSG00000142230	ENST00000413379	.	.	.	5.45	-8.47	0.00939	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	2.185	0.03884	0.1039:0.2305:0.3089:0.3567	.	.	.	.	X	277	.	ENSP00000416557:S277X	S	+	2	0	SAE1	52404352	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.648000	0.05391	-1.803000	0.01242	-0.175000	0.13238	TCA		0.547	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1	NM_005500		19	53	0	0	0	1	0	19	53				
DDO	8528	broad.mit.edu	37	6	110734649	110734649	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:110734649A>G	ENST00000368924.3	-	2	116	c.101T>C	c.(100-102)aTt>aCt	p.I34T	DDO_ENST00000368923.3_Missense_Mutation_p.I34T	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	6					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GACAACTGCAATCCGTGCTGT	0.507																																						ENST00000368924.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24						c.(100-102)aTt>aCt		D-aspartate oxidase							133.0	128.0	130.0					6																	110734649		2203	4300	6503	SO:0001583	missense	8528				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	g.chr6:110734649A>G	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.101T>C	6.37:g.110734649A>G	ENSP00000357920:p.Ile34Thr					DDO_ENST00000368925.1_Missense_Mutation_p.I6T|DDO_ENST00000368923.3_Missense_Mutation_p.I34T	p.I34T	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)	2	116	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	6					A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	ENST00000368924.3	37	c.101T>C	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758094	0.69648	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	T;T;T	0.52295	0.67;0.67;0.67	5.05	5.05	0.67936	.	0.697199	0.14523	N	0.314355	T	0.47710	0.1460	M	0.86502	2.82	0.51767	D	0.999935	P;P	0.46142	0.873;0.763	B;B	0.42361	0.385;0.311	T	0.61978	-0.6951	10	0.87932	D	0	-3.0928	14.4668	0.67490	1.0:0.0:0.0:0.0	.	34;34	Q99489-4;Q99489-3	.;.	T	34;34;6	ENSP00000357920:I34T;ENSP00000357919:I34T;ENSP00000357921:I6T	ENSP00000357919:I34T	I	-	2	0	DDO	110841342	0.957000	0.32711	0.010000	0.14722	0.004000	0.04260	8.211000	0.89754	1.891000	0.54761	0.379000	0.24179	ATT		0.507	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			55	155	0	0	0	1	0	55	155				
DAB1	1600	broad.mit.edu	37	1	57480729	57480729	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:57480729G>A	ENST00000371231.1	-	13	1404	c.1370C>T	c.(1369-1371)cCg>cTg	p.P457L	DAB1_ENST00000420954.2_Missense_Mutation_p.P422L|DAB1_ENST00000371236.2_Missense_Mutation_p.P424L|DAB1_ENST00000414851.2_Missense_Mutation_p.P406L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.P424L|DAB1_ENST00000439789.2_Missense_Mutation_p.P338L			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	457					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.P424L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGGCACGGGCGGAGGCTGGGC	0.582																																						ENST00000371236.2																			1	Substitution - Missense(1)	p.P424L(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(1270-1272)cCg>cTg		Dab, reelin signal transducer, homolog 1 (Drosophila)							75.0	77.0	77.0					1																	57480729		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57480729G>A	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1370C>T	1.37:g.57480729G>A	ENSP00000360275:p.Pro457Leu					DAB1_ENST00000439789.2_Missense_Mutation_p.P338L|DAB1_ENST00000414851.2_Missense_Mutation_p.P406L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.P457L|DAB1_ENST00000420954.2_Missense_Mutation_p.P422L|DAB1_ENST00000371234.4_Missense_Mutation_p.P424L	p.P424L			O75553	DAB1_HUMAN			12	1534	-			457					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.1271C>T		.	.	.	.	.	.	.	.	.	.	G	12.15	1.851692	0.32699	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.61510	0.21;0.21;0.17;0.1;1.23;0.25	5.54	4.62	0.57501	.	0.098623	0.64402	D	0.000001	T	0.50718	0.1632	L	0.42744	1.35	0.80722	D	1	B;B;B;P;B	0.50710	0.082;0.074;0.082;0.938;0.082	B;B;B;B;B	0.39419	0.048;0.02;0.014;0.299;0.014	T	0.59841	-0.7378	10	0.87932	D	0	-0.0069	16.5154	0.84299	0.0:0.1309:0.8691:0.0	.	406;457;424;338;422	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	L	424;424;424;422;406;338;457	ENSP00000360280:P424L;ENSP00000360278:P424L;ENSP00000395296:P422L;ENSP00000387581:P406L;ENSP00000409328:P338L;ENSP00000360275:P457L	ENSP00000360275:P457L	P	-	2	0	DAB1	57253317	1.000000	0.71417	0.901000	0.35422	0.795000	0.44927	9.263000	0.95617	1.559000	0.49555	0.650000	0.86243	CCG		0.582	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		24	65	0	0	0	1	0	24	65				
MOBP	4336	broad.mit.edu	37	3	39543701	39543701	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:39543701T>C	ENST00000420739.1	+	3	365	c.141T>C	c.(139-141)tgT>tgC	p.C47C	MOBP_ENST00000311042.6_Silent_p.C47C|MOBP_ENST00000428261.1_Silent_p.C47C|MOBP_ENST00000396228.1_Silent_p.C47C|MOBP_ENST00000354668.4_Silent_p.C47C|MOBP_ENST00000415443.1_Silent_p.C47C|MOBP_ENST00000383754.3_Silent_p.C47C|MOBP_ENST00000441980.2_Silent_p.C47C|MOBP_ENST00000447324.1_Silent_p.C47C			Q13875	MOBP_HUMAN	myelin-associated oligodendrocyte basic protein	47					intracellular protein transport (GO:0006886)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)		p.C47W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998)		ACAGCATCTGTAAGAGCGGCT	0.557																																						ENST00000311042.6																			1	Substitution - Missense(1)	p.C47W(1)	ovary(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6						c.(139-141)tgT>tgC		myelin-associated oligodendrocyte basic protein							67.0	69.0	69.0					3																	39543701		2203	4300	6503	SO:0001819	synonymous_variant	4336				nervous system development	nucleolus|perinuclear region of cytoplasm|soluble fraction		g.chr3:39543701T>C	D28113	CCDS2687.1, CCDS63598.1, CCDS2688.1	3p21.33	2004-03-02			ENSG00000168314	ENSG00000168314			7189	protein-coding gene	gene with protein product		600948				7989345	Standard	NM_001278322		Approved		uc031ryw.1	Q13875	OTTHUMG00000131347	ENST00000420739.1:c.141T>C	3.37:g.39543701T>C						MOBP_ENST00000420739.1_Silent_p.C47C|MOBP_ENST00000396228.1_Silent_p.C47C|MOBP_ENST00000415443.1_Silent_p.C47C|MOBP_ENST00000383754.3_Silent_p.C47C|MOBP_ENST00000428261.1_Silent_p.C47C|MOBP_ENST00000354668.4_Silent_p.C47C|MOBP_ENST00000447324.1_Silent_p.C47C|MOBP_ENST00000441980.2_Silent_p.C47C	p.C47C	NM_001278322.1	NP_001265251.1	Q13875	MOBP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998)	3	290	+			47					A8K2C2|G5E945|Q13874|Q6DHZ6|Q8TBJ1	Silent	SNP	ENST00000420739.1	37	c.141T>C																																																																																					0.557	MOBP-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343711.1	NM_006501, NM_182934, NM_182935		19	71	0	0	0	1	0	19	71				
C3orf62	375341	broad.mit.edu	37	3	49311557	49311557	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:49311557C>G	ENST00000343010.3	-	2	1499	c.463G>C	c.(463-465)Gat>Cat	p.D155H	MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	155										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCTTCAAATCTCTCTCCATA	0.448																																						ENST00000343010.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(463-465)Gat>Cat		chromosome 3 open reading frame 62							141.0	122.0	129.0					3																	49311557		2203	4300	6503	SO:0001583	missense	375341							g.chr3:49311557C>G	AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.463G>C	3.37:g.49311557C>G	ENSP00000341139:p.Asp155His					MIR4271_ENST00000582451.1_RNA	p.D155H	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	1499	-			155					Q6P7E9|Q7Z3X6	Missense_Mutation	SNP	ENST00000343010.3	37	c.463G>C	CCDS2792.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895924	0.52121	.	.	ENSG00000188315	ENST00000343010;ENST00000436325	T;T	0.48836	0.8;0.8	4.88	3.93	0.45458	.	0.269781	0.26539	N	0.023806	T	0.44787	0.1310	L	0.29908	0.895	0.37148	D	0.902021	P	0.51351	0.944	P	0.53006	0.715	T	0.50457	-0.8826	10	0.54805	T	0.06	-10.7077	9.4621	0.38792	0.2266:0.7734:0.0:0.0	.	155	Q6ZUJ4	CC062_HUMAN	H	155;153	ENSP00000341139:D155H;ENSP00000413663:D153H	ENSP00000341139:D155H	D	-	1	0	C3orf62	49286561	0.997000	0.39634	1.000000	0.80357	0.979000	0.70002	1.586000	0.36611	2.541000	0.85698	0.484000	0.47621	GAT		0.448	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1	NM_198562		25	58	0	0	0	1	0	25	58				
PKD1	5310	broad.mit.edu	37	16	2143020	2143020	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2143020G>A	ENST00000262304.4	-	38	11299	c.11091C>T	c.(11089-11091)caC>caT	p.H3697H	RP11-304L19.3_ENST00000565937.1_RNA|MIR1225_ENST00000408729.1_RNA|PKD1_ENST00000423118.1_Silent_p.H3696H|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3697					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GACGGTAGGCGTGCCCATGGC	0.642																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(11089-11091)caC>caT		polycystic kidney disease 1 (autosomal dominant)							107.0	107.0	107.0					16																	2143020		2198	4299	6497	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2143020G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.11091C>T	16.37:g.2143020G>A						RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.H3696H	p.H3697H	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			38	11299	-			3697					Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.11091C>T	CCDS32369.1																																																																																				0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			49	148	0	0	0	1	0	49	148				
TMEM209	84928	broad.mit.edu	37	7	129813778	129813778	+	Splice_Site	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:129813778A>T	ENST00000397622.2	-	12	1468	c.1346T>A	c.(1345-1347)aTc>aAc	p.I449N	TMEM209_ENST00000336804.8_Splice_Site_p.I406N|TMEM209_ENST00000473456.1_Splice_Site_p.I407N|TMEM209_ENST00000462753.1_Splice_Site_p.I448N|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	449						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					ATGCATGATGATCTGAGGATG	0.353																																						ENST00000397622.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12						c.e12-1		transmembrane protein 209							154.0	148.0	150.0					7																	129813778		1837	4098	5935	SO:0001630	splice_region_variant	84928					integral to membrane		g.chr7:129813778A>T		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.1345-1T>A	7.37:g.129813778A>T						RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Splice_Site_p.I448_splice|TMEM209_ENST00000336804.8_Splice_Site_p.I406_splice|TMEM209_ENST00000473456.1_Splice_Site_p.I407_splice	p.I449_splice	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN			12	1468	-	Melanoma(18;0.0435)		449					A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Splice_Site	SNP	ENST00000397622.2	37	c.1344_splice	CCDS47712.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.239288	0.58995	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.48	5.48	0.80851	.	0.161069	0.56097	D	0.000036	T	0.67221	0.2870	M	0.82716	2.605	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.98;0.989	T	0.72997	-0.4121	10	0.87932	D	0	-15.4459	14.7335	0.69399	1.0:0.0:0.0:0.0	.	407;449	Q96SK2-3;Q96SK2	.;TM209_HUMAN	N	449;448;407;406	ENSP00000380747:I449N;ENSP00000419697:I448N;ENSP00000417258:I407N;ENSP00000338388:I406N	ENSP00000338388:I406N	I	-	2	0	TMEM209	129601014	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	8.638000	0.91019	2.082000	0.62665	0.460000	0.39030	ATC		0.353	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842	Missense_Mutation	6	207	0	0	0	1	0	6	207				
CEP76	79959	broad.mit.edu	37	18	12674619	12674619	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:12674619G>A	ENST00000262127.2	-	11	1982	c.1757C>T	c.(1756-1758)gCt>gTt	p.A586V	CEP76_ENST00000423709.2_Missense_Mutation_p.A511V|PSMG2_ENST00000589405.1_Intron|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	586					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATCAGGTACAGCCCTTCTTAT	0.398																																						ENST00000262127.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1756-1758)gCt>gTt		centrosomal protein 76kDa							147.0	127.0	134.0					18																	12674619		2203	4300	6503	SO:0001583	missense	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12674619G>A	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.1757C>T	18.37:g.12674619G>A	ENSP00000262127:p.Ala586Val					CEP76_ENST00000423709.2_Missense_Mutation_p.A511V|RP11-973H7.2_ENST00000585331.1_RNA	p.A586V	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN			11	1982	-			586					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	c.1757C>T	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334265	0.60853	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	T;T	0.32988	1.43;1.43	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.35451	0.0932	L	0.57536	1.79	0.80722	D	1	P;P	0.47962	0.903;0.903	B;B	0.43052	0.406;0.406	T	0.11372	-1.0590	10	0.27785	T	0.31	-14.3038	18.4049	0.90532	0.0:0.0:1.0:0.0	.	511;586	Q8TAP6-2;Q8TAP6	.;CEP76_HUMAN	V	586;511	ENSP00000262127:A586V;ENSP00000403074:A511V	ENSP00000262127:A586V	A	-	2	0	CEP76	12664619	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	8.054000	0.89451	2.351000	0.79841	0.585000	0.79938	GCT		0.398	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		33	76	0	0	0	1	0	33	76				
ISL2	64843	broad.mit.edu	37	15	76633580	76633580	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:76633580T>C	ENST00000290759.4	+	5	1061	c.901T>C	c.(901-903)Tgg>Cgg	p.W301R	RP11-685G9.4_ENST00000602530.1_lincRNA|RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	301	LIM-binding domain (LID). {ECO:0000250}.				negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						CCAGCCGCCGTGGAAGGCGCT	0.687																																					GBM(97;953 1391 16164 31496 36951)	ENST00000290759.4																			0				breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(901-903)Tgg>Cgg		ISL LIM homeobox 2							25.0	24.0	24.0					15																	76633580		2196	4291	6487	SO:0001583	missense	64843					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:76633580T>C	AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"""Homeoboxes / LIM class"""	18524	protein-coding gene	gene with protein product		609481	"""ISL2 transcription factor, LIM/homeodomain, (islet-2)"""				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.901T>C	15.37:g.76633580T>C	ENSP00000290759:p.Trp301Arg					RP11-685G9.2_ENST00000559539.1_RNA	p.W301R	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN			5	1061	+			301					B3KM37	Missense_Mutation	SNP	ENST00000290759.4	37	c.901T>C	CCDS10290.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399117	0.83120	.	.	ENSG00000159556	ENST00000290759	D	0.85339	-1.97	4.62	4.62	0.57501	.	0.140541	0.52532	D	0.000063	D	0.89298	0.6675	M	0.69463	2.115	0.80722	D	1	D	0.63046	0.992	P	0.60949	0.881	D	0.89438	0.3721	10	0.51188	T	0.08	.	12.0189	0.53331	0.0:0.0:0.0:1.0	.	301	Q96A47	ISL2_HUMAN	R	301	ENSP00000290759:W301R	ENSP00000290759:W301R	W	+	1	0	ISL2	74420635	1.000000	0.71417	0.979000	0.43373	0.923000	0.55619	7.788000	0.85771	1.919000	0.55581	0.402000	0.26972	TGG		0.687	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289779.1			6	18	0	0	0	1	0	6	18				
CYP7A1	1581	broad.mit.edu	37	8	59409581	59409581	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:59409581C>T	ENST00000301645.3	-	3	627	c.490G>A	c.(490-492)Gct>Act	p.A164T		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	164					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ACCCAGGCAGCGGTCTTTGAG	0.488									Neonatal Giant Cell Hepatitis																													ENST00000301645.3																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(490-492)Gct>Act		cytochrome P450, family 7, subfamily A, polypeptide 1							131.0	131.0	131.0					8																	59409581		2203	4300	6503	SO:0001583	missense	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59409581C>T	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.490G>A	8.37:g.59409581C>T	ENSP00000301645:p.Ala164Thr						p.A164T	NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN			3	627	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	164					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.490G>A	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.873346	0.00542	.	.	ENSG00000167910	ENST00000301645	T	0.12569	2.67	5.5	-2.48	0.06423	.	0.899808	0.09918	N	0.738903	T	0.04092	0.0114	N	0.10733	0.035	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40961	-0.9535	10	0.07030	T	0.85	-0.62	0.7973	0.01068	0.2797:0.1761:0.1288:0.4154	.	164	P22680	CP7A1_HUMAN	T	164	ENSP00000301645:A164T	ENSP00000301645:A164T	A	-	1	0	CYP7A1	59572135	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.394000	0.07296	-0.781000	0.04548	-0.475000	0.04921	GCT		0.488	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		18	263	0	0	0	1	0	18	263				
CTAGE5	4253	broad.mit.edu	37	14	39818098	39818098	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:39818098C>A	ENST00000280083.3	+	23	2479	c.2165C>A	c.(2164-2166)cCt>cAt	p.P722H	CTAGE5_ENST00000557038.1_Missense_Mutation_p.P642H|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P679H|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.P1257H|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P693H|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P647H|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P693H|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P693H|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P727H|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P722H|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P710H			O15320	CTGE5_HUMAN	CTAGE family, member 5	722	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTCCCCCCACCTCCTCCAGGA	0.507																																						ENST00000553728.1																			0											c.(3769-3771)cCt>cAt									94.0	100.0	98.0					14																	39818098		2203	4300	6503	SO:0001583	missense	4253							g.chr14:39818098C>A	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2165C>A	14.37:g.39818098C>A	ENSP00000280083:p.Pro722His					CTAGE5_ENST00000557038.1_Missense_Mutation_p.P642H|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P727H|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P679H|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P710H|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P693H|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P693H|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P722H|CTAGE5_ENST00000280083.3_Missense_Mutation_p.P722H|CTAGE5_ENST00000553383.1_3'UTR|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P693H|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P647H	p.P1257H							27	3983	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.3770C>A	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041545	0.35989	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	D;D;D;D;D;D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11	5.13	4.22	0.49857	.	0.248820	0.21200	N	0.078494	D	0.92283	0.7552	M	0.84082	2.675	0.35574	D	0.805707	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0	D;D;D;D;D	0.71184	0.972;0.939;0.972;0.939;0.972	D	0.93476	0.6823	9	.	.	.	.	8.1296	0.31018	0.0:0.7533:0.161:0.0857	.	727;679;722;650;710	O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;CTGE5_HUMAN;.;.	H	1257;710;642;693;722;727;722;647;679;693	ENSP00000452252:P1257H;ENSP00000343897:P710H;ENSP00000450869:P642H;ENSP00000379468:P693H;ENSP00000339286:P722H;ENSP00000379462:P727H;ENSP00000280083:P722H;ENSP00000452562:P647H;ENSP00000343912:P679H;ENSP00000450449:P693H	.	P	+	2	0	CTAGE5;RP11-407N17.3	38887849	0.990000	0.36364	0.964000	0.40570	0.100000	0.18952	1.419000	0.34793	1.093000	0.41377	0.561000	0.74099	CCT		0.507	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		15	269	1	0	2.32078e-09	1	2.39896e-09	15	269				
GNPAT	8443	broad.mit.edu	37	1	231376829	231376829	+	5'Flank	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:231376829G>A	ENST00000366647.4	+	0	0				C1orf131_ENST00000366651.3_Missense_Mutation_p.S20F|C1orf131_ENST00000471936.1_5'UTR|C1orf131_ENST00000366649.2_Missense_Mutation_p.S20F|C1orf131_ENST00000318906.2_Missense_Mutation_p.S20F|GNPAT_ENST00000366646.3_5'Flank	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase						cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GGGAGGCGTGGAGGACCCCGG	0.627																																						ENST00000318906.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8						c.(58-60)tCc>tTc		chromosome 1 open reading frame 131							107.0	108.0	108.0					1																	231376829		2203	4300	6503	SO:0001631	upstream_gene_variant	128061							g.chr1:231376829G>A	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024		1.37:g.231376829G>A	Exception_encountered					C1orf131_ENST00000366649.2_Missense_Mutation_p.S20F|C1orf131_ENST00000366651.3_Missense_Mutation_p.S20F|C1orf131_ENST00000471936.1_5'UTR	p.S20F			Q8NDD1	CA131_HUMAN			1	87	-	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	20					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.59C>T	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037655	0.35989	.	.	ENSG00000143633	ENST00000366649;ENST00000318906;ENST00000366651;ENST00000366648;ENST00000451322	T;T;T;T	0.48201	0.86;0.86;0.86;0.82	4.73	-4.36	0.03645	.	3.289640	0.00741	N	0.001015	T	0.32556	0.0833	L	0.34521	1.04	0.09310	N	1	B;P;B;B;B	0.43094	0.412;0.799;0.412;0.412;0.412	B;B;B;B;B	0.39258	0.195;0.295;0.149;0.149;0.096	T	0.32161	-0.9917	10	0.52906	T	0.07	-12.6827	2.6812	0.05094	0.2383:0.3309:0.3248:0.106	.	20;20;20;20;20	B4E0F7;Q8NDD1-4;Q8NDD1;Q8NDD1-3;Q8NDD1-2	.;.;CA131_HUMAN;.;.	F	20;20;20;10;3	ENSP00000355609:S20F;ENSP00000321341:S20F;ENSP00000355611:S20F;ENSP00000401677:S3F	ENSP00000321341:S20F	S	-	2	0	C1orf131	229443452	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.928000	0.03980	-0.691000	0.05135	-0.157000	0.13467	TCC		0.627	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			17	167	0	0	0	1	0	17	167				
TNXB	7148	broad.mit.edu	37	6	32032761	32032761	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:32032761G>A	ENST00000375244.3	-	19	6879	c.6678C>T	c.(6676-6678)gtC>gtT	p.V2226V	TNXB_ENST00000375247.2_Silent_p.V2226V			P22105	TENX_HUMAN	tenascin XB	2298	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTTAAACTGGACCAAGAAAT	0.607																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(6676-6678)gtC>gtT		tenascin XB							26.0	30.0	29.0					6																	32032761		1248	2537	3785	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32032761G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6678C>T	6.37:g.32032761G>A						TNXB_ENST00000375247.2_Silent_p.V2226V	p.V2226V			P22105	TENX_HUMAN			19	6879	-			2298			Fibronectin type-III 14.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.6678C>T																																																																																					0.607	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		5	24	0	0	0	1	0	5	24				
NAA15	80155	broad.mit.edu	37	4	140297593	140297593	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:140297593T>C	ENST00000296543.5	+	16	2345	c.2022T>C	c.(2020-2022)acT>acC	p.T674T	NAA15_ENST00000398947.1_Silent_p.T674T	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	674	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGATAGAGACTCATCTTTTTG	0.348																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2020-2022)acT>acC		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							112.0	105.0	107.0					4																	140297593		1835	4087	5922	SO:0001819	synonymous_variant	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140297593T>C	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.2022T>C	4.37:g.140297593T>C						NAA15_ENST00000398947.1_Silent_p.T674T	p.T674T	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			16	2345	+			674					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Silent	SNP	ENST00000296543.5	37	c.2022T>C	CCDS43270.1																																																																																				0.348	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		5	77	0	0	0	1	0	5	77				
ATP1A2	477	broad.mit.edu	37	1	160093055	160093055	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:160093055C>T	ENST00000361216.3	+	4	319	c.230C>T	c.(229-231)gCc>gTc	p.A77V	ATP1A2_ENST00000392233.3_Missense_Mutation_p.A77V	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	77					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGGCCCAACGCCCTCACACCA	0.632																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(229-231)gCc>gTc		ATPase, Na+/K+ transporting, alpha 2 polypeptide							136.0	132.0	133.0					1																	160093055		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160093055C>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.230C>T	1.37:g.160093055C>T	ENSP00000354490:p.Ala77Val					ATP1A2_ENST00000392233.3_Missense_Mutation_p.A77V|ATP1A2_ENST00000472488.1_3'UTR	p.A77V	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		4	319	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		77					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.230C>T	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334604	0.41297	.	.	ENSG00000018625	ENST00000361216;ENST00000392233	T;T	0.78707	-1.2;-1.2	5.24	4.32	0.51571	ATPase, P-type cation-transporter, N-terminal (2);	0.055022	0.64402	D	0.000001	T	0.55242	0.1908	L	0.31804	0.96	0.80722	D	1	B	0.10296	0.003	B	0.17433	0.018	T	0.58589	-0.7610	10	0.52906	T	0.07	.	14.0959	0.65021	0.1519:0.8481:0.0:0.0	.	77	P50993	AT1A2_HUMAN	V	77	ENSP00000354490:A77V;ENSP00000376066:A77V	ENSP00000354490:A77V	A	+	2	0	ATP1A2	158359679	1.000000	0.71417	0.995000	0.50966	0.101000	0.19017	5.909000	0.69923	1.405000	0.46838	0.561000	0.74099	GCC		0.632	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		60	184	0	0	0	1	0	60	184				
ACCS	84680	broad.mit.edu	37	11	44089200	44089200	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:44089200A>T	ENST00000263776.8	+	2	457	c.23A>T	c.(22-24)gAc>gTc	p.D8V	ACCS_ENST00000432284.2_Missense_Mutation_p.D8V|ACCS_ENST00000533208.1_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	8					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CCTCAAAAGGACTTCAGGGCT	0.537																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000263776.8																			0				breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.(22-24)gAc>gTc		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)							82.0	83.0	83.0					11																	44089200		2203	4300	6503	SO:0001583	missense	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44089200A>T	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.23A>T	11.37:g.44089200A>T	ENSP00000263776:p.Asp8Val					ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Missense_Mutation_p.D8V	p.D8V	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN			2	457	+			8					B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	c.23A>T	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.106209	0.37145	.	.	ENSG00000110455	ENST00000524990;ENST00000263776;ENST00000432284;ENST00000533404	T;T;T;T	0.61392	1.22;0.11;1.22;0.72	5.03	5.03	0.67393	.	0.988497	0.08238	N	0.976542	T	0.43010	0.1228	N	0.22421	0.69	0.09310	N	0.999999	P;B	0.34757	0.467;0.09	B;B	0.29176	0.099;0.046	T	0.20638	-1.0269	10	0.30854	T	0.27	-0.754	11.0928	0.48125	1.0:0.0:0.0:0.0	.	8;8	B4E219;Q96QU6	.;1A1L1_HUMAN	V	8	ENSP00000434156:D8V;ENSP00000263776:D8V;ENSP00000391775:D8V;ENSP00000435919:D8V	ENSP00000263776:D8V	D	+	2	0	ACCS	44045776	0.985000	0.35326	0.012000	0.15200	0.002000	0.02628	2.871000	0.48459	2.123000	0.65237	0.528000	0.53228	GAC		0.537	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		24	90	0	0	0	1	0	24	90				
PCDHB13	56123	broad.mit.edu	37	5	140595075	140595075	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140595075C>T	ENST00000341948.4	+	1	1567	c.1380C>T	c.(1378-1380)gtC>gtT	p.V460V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	460	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGTTCGTCCGCGAGAACA	0.607																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1378-1380)gtC>gtT									121.0	122.0	122.0					5																	140595075		2203	4298	6501	SO:0001819	synonymous_variant	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595075C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1380C>T	5.37:g.140595075C>T							p.V460V	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1567	+			460			Cadherin 5.		A8K9V6	Silent	SNP	ENST00000341948.4	37	c.1380C>T	CCDS4255.1																																																																																				0.607	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		6	355	0	0	0	1	0	6	355				
DCP1A	55802	broad.mit.edu	37	3	53326391	53326391	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:53326391C>T	ENST00000607628.1	-	7	1200	c.1091G>A	c.(1090-1092)aGc>aAc	p.S364N	Y_RNA_ENST00000384175.1_RNA|DCP1A_ENST00000606822.1_Missense_Mutation_p.S326N|DCP1A_ENST00000294241.6_Missense_Mutation_p.S364N|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	364					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		ACTGGCATGGCTTAGCTCAGG	0.567																																						ENST00000607628.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1090-1092)aGc>aAc		decapping mRNA 1A							86.0	89.0	88.0					3																	53326391		2056	4220	6276	SO:0001583	missense	55802				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding	g.chr3:53326391C>T	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.1091G>A	3.37:g.53326391C>T	ENSP00000475920:p.Ser364Asn					DCP1A_ENST00000294241.6_Missense_Mutation_p.S364N|DCP1A_ENST00000606822.1_Missense_Mutation_p.S326N|DCP1A_ENST00000480258.1_5'UTR	p.S364N	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)	7	1200	-			364					B4DHN9|U3KQM8	Missense_Mutation	SNP	ENST00000607628.1	37	c.1091G>A																																																																																					0.567	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_018403		32	89	0	0	0	1	0	32	89				
R3HDM1	23518	broad.mit.edu	37	2	136402990	136402990	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:136402990A>G	ENST00000264160.4	+	16	1886	c.1516A>G	c.(1516-1518)Aat>Gat	p.N506D	R3HDM1_ENST00000329971.3_Missense_Mutation_p.N377D|R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000409606.1_Missense_Mutation_p.N506D|R3HDM1_ENST00000409478.1_Missense_Mutation_p.N377D|R3HDM1_ENST00000410054.1_Missense_Mutation_p.N450D	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	506							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGTTGTGTATAATCCTCCTAT	0.448																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(1516-1518)Aat>Gat		R3H domain containing 1							127.0	122.0	123.0					2																	136402990		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136402990A>G	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1516A>G	2.37:g.136402990A>G	ENSP00000264160:p.Asn506Asp					R3HDM1_ENST00000443537.2_3'UTR|R3HDM1_ENST00000409606.1_Missense_Mutation_p.N506D|R3HDM1_ENST00000410054.1_Missense_Mutation_p.N450D|R3HDM1_ENST00000409478.1_Missense_Mutation_p.N377D|R3HDM1_ENST00000329971.3_Missense_Mutation_p.N377D	p.N506D	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	16	1886	+			506					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.1516A>G	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.245280	0.80024	.	.	ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.71	4.54	0.55810	.	0.201460	0.50627	D	0.000117	T	0.72479	0.3465	M	0.73962	2.25	0.30050	N	0.811886	D;D;D;D	0.76494	0.992;0.999;0.997;0.997	D;D;D;D	0.74674	0.984;0.91;0.98;0.98	T	0.70525	-0.4848	10	0.30854	T	0.27	-9.77	12.2332	0.54500	0.8725:0.0:0.0:0.1275	.	377;506;450;506	G5E9G8;E9PBB4;E9PG42;Q15032	.;.;.;R3HD1_HUMAN	D	377;506;377;450;506	ENSP00000386457:N377D;ENSP00000264160:N506D;ENSP00000331396:N377D;ENSP00000386877:N450D;ENSP00000387010:N506D	ENSP00000264160:N506D	N	+	1	0	R3HDM1	136119460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.146000	0.77373	0.966000	0.38159	0.533000	0.62120	AAT		0.448	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		9	123	0	0	0	1	0	9	123				
ACLY	47	broad.mit.edu	37	17	40035067	40035067	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:40035067C>T	ENST00000352035.2	-	21	2506	c.2376G>A	c.(2374-2376)gaG>gaA	p.E792E	ACLY_ENST00000393896.2_Silent_p.E782E|ACLY_ENST00000353196.1_Silent_p.E782E|ACLY_ENST00000590151.1_Silent_p.E792E|ACLY_ENST00000537919.1_Silent_p.E521E	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	792					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TCTCTCCAAGCTCATCAAAGC	0.567																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(2374-2376)gaG>gaA		ATP citrate lyase							101.0	100.0	101.0					17																	40035067		2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40035067C>T	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2376G>A	17.37:g.40035067C>T						ACLY_ENST00000537919.1_Silent_p.E521E|ACLY_ENST00000590151.1_Silent_p.E792E|ACLY_ENST00000393896.2_Silent_p.E782E|ACLY_ENST00000353196.1_Silent_p.E782E	p.E792E	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			21	2506	-		Breast(137;0.000143)	792					B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.2376G>A	CCDS11412.1																																																																																				0.567	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		18	132	0	0	0	1	0	18	132				
EIF1AX	1964	broad.mit.edu	37	X	20153883	20153883	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:20153883A>G	ENST00000379607.5	-	3	380	c.177T>C	c.(175-177)tgT>tgC	p.C59C	snoU2-30_ENST00000365012.1_RNA|EIF1AX_ENST00000379593.1_Silent_p.C31C|snoU2_19_ENST00000364722.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	59	S1-like.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTCTGATGTGACATAACCTCT	0.383																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(175-177)tgT>tgC		eukaryotic translation initiation factor 1A, X-linked							160.0	141.0	147.0					X																	20153883		2203	4300	6503	SO:0001819	synonymous_variant	1964					cytosol	translation initiation factor activity	g.chrX:20153883A>G	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.177T>C	X.37:g.20153883A>G						EIF1AX_ENST00000379593.1_Silent_p.C31C	p.C59C	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			3	380	-			59			S1-like.		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Silent	SNP	ENST00000379607.5	37	c.177T>C	CCDS14196.1																																																																																				0.383	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			4	87	0	0	0	1	0	4	87				
AHDC1	27245	broad.mit.edu	37	1	27877213	27877213	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:27877213G>A	ENST00000247087.5	-	5	2010	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	AHDC1_ENST00000374011.2_Missense_Mutation_p.R472W			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	472							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)		ACCATGCGCCGCACGCCCCGG	0.627																																						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.(1414-1416)Cgg>Tgg		AT hook, DNA binding motif, containing 1							21.0	20.0	20.0					1																	27877213		2202	4299	6501	SO:0001583	missense	27245						DNA binding	g.chr1:27877213G>A	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.1414C>T	1.37:g.27877213G>A	ENSP00000247087:p.Arg472Trp					AHDC1_ENST00000247087.5_Missense_Mutation_p.R472W|AHDC1_ENST00000482400.2_Intron	p.R472W	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	2382	-		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)	472					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.1414C>T	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.122586	0.56613	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.57595	0.39;0.39	5.32	3.41	0.39046	.	0.000000	0.51477	U	0.000084	T	0.56963	0.2021	N	0.19112	0.55	0.42021	D	0.99098	D	0.89917	1.0	D	0.79108	0.992	T	0.62229	-0.6898	10	0.87932	D	0	-13.8622	13.4212	0.60998	0.0:0.0:0.7136:0.2864	.	472	Q5TGY3	AHDC1_HUMAN	W	472	ENSP00000247087:R472W;ENSP00000363123:R472W	ENSP00000247087:R472W	R	-	1	2	AHDC1	27749800	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	4.100000	0.57762	0.777000	0.33496	-0.183000	0.12914	CGG		0.627	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			9	28	0	0	0	1	0	9	28				
UNC50	25972	broad.mit.edu	37	2	99226389	99226389	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:99226389T>C	ENST00000357765.2	+	2	319	c.167T>C	c.(166-168)cTg>cCg	p.L56P	COA5_ENST00000483527.1_5'Flank|UNC50_ENST00000409347.1_Missense_Mutation_p.L73P|UNC50_ENST00000409975.1_Missense_Mutation_p.L73P|COA5_ENST00000409997.1_5'Flank|COA5_ENST00000328709.3_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	56					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ATGCTCTACCTGTTCACATCC	0.473																																						ENST00000409975.1																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						c.(217-219)cTg>cCg		unc-50 homolog (C. elegans)							99.0	101.0	100.0					2																	99226389		2203	4300	6503	SO:0001583	missense	25972				protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding	g.chr2:99226389T>C		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.167T>C	2.37:g.99226389T>C	ENSP00000350409:p.Leu56Pro					UNC50_ENST00000409347.1_Missense_Mutation_p.L73P|UNC50_ENST00000357765.2_Missense_Mutation_p.L56P	p.L73P			Q53HI1	UNC50_HUMAN			1	1348	+			56					D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	ENST00000357765.2	37	c.218T>C	CCDS2035.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.279280	0.80692	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.36	5.36	0.76844	.	0.070214	0.64402	D	0.000019	D	0.85522	0.5716	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89129	0.3508	9	0.87932	D	0	-30.4187	14.526	0.67890	0.0:0.0:0.0:1.0	.	56	Q53HI1	UNC50_HUMAN	P	56;73;73	.	ENSP00000350409:L56P	L	+	2	0	UNC50	98592821	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.551000	0.82182	2.027000	0.59764	0.482000	0.46254	CTG		0.473	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044		4	124	0	0	0	1	0	4	124				
KDM5A	5927	broad.mit.edu	37	12	459895	459895	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:459895G>A	ENST00000399788.2	-	10	1562	c.1200C>T	c.(1198-1200)agC>agT	p.S400S	KDM5A_ENST00000382815.4_Silent_p.S400S	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	400					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTTCTTCAATGCTGCTTACCA	0.398			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(1198-1200)agC>agT		lysine (K)-specific demethylase 5A							126.0	115.0	119.0					12																	459895		1840	4098	5938	SO:0001819	synonymous_variant	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:459895G>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1200C>T	12.37:g.459895G>A						KDM5A_ENST00000382815.4_Silent_p.S400S	p.S400S	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			10	1562	-			400					A8MV76|Q4LE72|Q86XZ1	Silent	SNP	ENST00000399788.2	37	c.1200C>T	CCDS41736.1																																																																																				0.398	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		13	78	0	0	0	1	0	13	78				
GBP7	388646	broad.mit.edu	37	1	89616155	89616155	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:89616155T>C	ENST00000294671.2	-	6	867	c.729A>G	c.(727-729)aaA>aaG	p.K243K		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	243	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GTAAGAGTTTTTTGTCATTTA	0.388																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(727-729)aaA>aaG		guanylate binding protein 7							131.0	124.0	126.0					1																	89616155		2203	4300	6503	SO:0001819	synonymous_variant	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89616155T>C	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.729A>G	1.37:g.89616155T>C							p.K243K	NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	6	867	-		Lung NSC(277;0.0908)	243						Silent	SNP	ENST00000294671.2	37	c.729A>G	CCDS720.1																																																																																				0.388	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		16	78	0	0	0	1	0	16	78				
PDZD2	23037	broad.mit.edu	37	5	31983619	31983619	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:31983619C>A	ENST00000438447.1	+	3	1223	c.835C>A	c.(835-837)Ccc>Acc	p.P279T	PDZD2_ENST00000282493.3_Missense_Mutation_p.P279T			O15018	PDZD2_HUMAN	PDZ domain containing 2	279					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGTGGCTGGACCCCATCTAGA	0.527																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(835-837)Ccc>Acc		PDZ domain containing 2							72.0	76.0	74.0					5																	31983619		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31983619C>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.835C>A	5.37:g.31983619C>A	ENSP00000402033:p.Pro279Thr					PDZD2_ENST00000282493.3_Missense_Mutation_p.P279T	p.P279T			O15018	PDZD2_HUMAN			3	1223	+			279					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.835C>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395155	0.42512	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06068	3.35;3.35	5.78	-7.84	0.01196	.	0.706131	0.12327	N	0.478776	T	0.02455	0.0075	N	0.19112	0.55	0.20638	N	0.999873	B;P	0.39282	0.085;0.666	B;B	0.33339	0.026;0.162	T	0.23976	-1.0173	10	0.54805	T	0.06	.	3.1093	0.06352	0.1008:0.3497:0.304:0.2455	.	105;279	B4E3P2;O15018	.;PDZD2_HUMAN	T	279	ENSP00000402033:P279T;ENSP00000282493:P279T	ENSP00000282493:P279T	P	+	1	0	PDZD2	32019376	0.194000	0.23325	0.239000	0.24122	0.981000	0.71138	-0.245000	0.08890	-1.476000	0.01874	-0.142000	0.14014	CCC		0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			4	137	1	0	2.56e-06	1	2.6216e-06	4	137				
DTX1	1840	broad.mit.edu	37	12	113496126	113496126	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:113496126C>T	ENST00000257600.3	+	1	632	c.129C>T	c.(127-129)acC>acT	p.T43T		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	43	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						ACACGGCCACCGTGTGCCACC	0.652																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(127-129)acC>acT		deltex homolog 1 (Drosophila)							94.0	82.0	86.0					12																	113496126		2203	4300	6503	SO:0001819	synonymous_variant	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113496126C>T	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.129C>T	12.37:g.113496126C>T							p.T43T	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			1	632	+			43			WWE 1.		O60630|Q9BS04	Silent	SNP	ENST00000257600.3	37	c.129C>T	CCDS9164.1																																																																																				0.652	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			23	133	0	0	0	1	0	23	133				
SARDH	1757	broad.mit.edu	37	9	136573485	136573485	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:136573485G>A	ENST00000371872.4	-	11	1651	c.1394C>T	c.(1393-1395)gCc>gTc	p.A465V	SARDH_ENST00000422262.2_Missense_Mutation_p.A297V|SARDH_ENST00000439388.1_Missense_Mutation_p.A465V	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	465					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTAGTTCTTGGCGTAGGACTC	0.652																																						ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(1393-1395)gCc>gTc		sarcosine dehydrogenase							100.0	102.0	101.0					9																	136573485		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136573485G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1394C>T	9.37:g.136573485G>A	ENSP00000360938:p.Ala465Val					SARDH_ENST00000422262.2_Missense_Mutation_p.A297V|SARDH_ENST00000439388.1_Missense_Mutation_p.A465V	p.A465V	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	11	1651	-			465					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.1394C>T	CCDS6978.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.379576|4.379576	0.82682|0.82682	.|.	.|.	ENSG00000123453|ENSG00000123453	ENST00000539227|ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237	.|D;D;D	.|0.84516	.|-1.86;-1.86;-1.86	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	.|0.051498	.|0.85682	.|D	.|0.000000	.|D	.|0.85292	.|0.5663	N|N	0.21097|0.21097	0.63|0.63	0.80722|0.80722	D|D	1|1	.|D	.|0.55605	.|0.972	.|P	.|0.58013	.|0.831	.|D	.|0.84102	.|0.0396	.|10	.|0.29301	.|T	.|0.29	.|-29.3068	18.6317|18.6317	0.91361|0.91361	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|465	.|Q9UL12	.|SARDH_HUMAN	.|V	-1|465;465;297;465	.|ENSP00000360938:A465V;ENSP00000403084:A465V;ENSP00000415537:A297V	.|ENSP00000360938:A465V	.|A	-|-	.|2	.|0	SARDH|SARDH	135563306|135563306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.541000|0.541000	0.35023|0.35023	9.684000|9.684000	0.98659|0.98659	2.382000|2.382000	0.81193|0.81193	0.563000|0.563000	0.77884|0.77884	.|GCC		0.652	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			20	190	0	0	0	1	0	20	190				
PEX3	8504	broad.mit.edu	37	6	143795986	143795986	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:143795986T>C	ENST00000367591.4	+	9	874	c.811T>C	c.(811-813)Ttg>Ctg	p.L271L		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	271					peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TAGAGACATGTTGGAAAGGTA	0.338																																						ENST00000367591.4																			0				endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18						c.(811-813)Ttg>Ctg		peroxisomal biogenesis factor 3							113.0	111.0	112.0					6																	143795986		2203	4297	6500	SO:0001819	synonymous_variant	8504				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding	g.chr6:143795986T>C	AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.811T>C	6.37:g.143795986T>C							p.L271L	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)	9	874	+			271					Q6FGP5	Silent	SNP	ENST00000367591.4	37	c.811T>C	CCDS5199.1																																																																																				0.338	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			5	104	0	0	0	1	0	5	104				
CCT5	22948	broad.mit.edu	37	5	10258521	10258521	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:10258521A>G	ENST00000280326.4	+	6	1167	c.747A>G	c.(745-747)gcA>gcG	p.A249A	CCT5_ENST00000503026.1_Silent_p.A228A|CCT5_ENST00000515390.1_Silent_p.A194A|CCT5_ENST00000515676.1_Silent_p.A211A|CCT5_ENST00000506600.1_Silent_p.A156A	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	249					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						CGAAGATTGCAATTCTCACAT	0.403																																						ENST00000280326.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						c.(745-747)gcA>gcG		chaperonin containing TCP1, subunit 5 (epsilon)							119.0	112.0	115.0					5																	10258521		2203	4300	6503	SO:0001819	synonymous_variant	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10258521A>G	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.747A>G	5.37:g.10258521A>G						CCT5_ENST00000503026.1_Silent_p.A228A|CCT5_ENST00000506600.1_Silent_p.A156A|CCT5_ENST00000515676.1_Silent_p.A211A|CCT5_ENST00000515390.1_Silent_p.A194A	p.A249A	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN			6	1167	+			249					A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	37	c.747A>G	CCDS3877.1																																																																																				0.403	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			49	110	0	0	0	1	0	49	110				
BPIFB4	149954	broad.mit.edu	37	20	31671444	31671444	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:31671444T>C	ENST00000375483.3	+	3	441	c.441T>C	c.(439-441)ctT>ctC	p.L147L		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	147	Gly-rich.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TGGGCAGGCTTCACCGGCGAG	0.647																																						ENST00000375483.3																			0											c.(439-441)ctT>ctC		BPI fold containing family B, member 4							48.0	49.0	49.0					20																	31671444		2203	4300	6503	SO:0001819	synonymous_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671444T>C	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.441T>C	20.37:g.31671444T>C							p.L147L	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			3	441	+			147			Gly-rich.		Q5TDX6	Silent	SNP	ENST00000375483.3	37	c.441T>C	CCDS13213.2																																																																																				0.647	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		29	85	0	0	0	1	0	29	85				
CRLF1	9244	broad.mit.edu	37	19	18710432	18710432	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:18710432G>A	ENST00000392386.3	-	2	533	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	114	Ig-like C2-type.		L -> P (in CISS1; together with I-113). {ECO:0000269|PubMed:21326283}.		negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TGGCACACGAGGTTGTCCCCC	0.672																																						ENST00000392386.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(340-342)Ctc>Ttc		cytokine receptor-like factor 1							33.0	33.0	33.0					19																	18710432		2203	4300	6503	SO:0001583	missense	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18710432G>A	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.340C>T	19.37:g.18710432G>A	ENSP00000376188:p.Leu114Phe						p.L114F	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN			2	533	-			114			Ig-like C2-type.		Q9UHH5	Missense_Mutation	SNP	ENST00000392386.3	37	c.340C>T	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301848	0.81136	.	.	ENSG00000006016	ENST00000392386	D	0.92699	-3.09	5.23	4.18	0.49190	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.92854	0.7727	L	0.32530	0.975	0.54753	D	0.999981	D	0.76494	0.999	D	0.80764	0.994	D	0.93096	0.6504	10	0.66056	D	0.02	-26.3692	12.991	0.58618	0.0817:0.0:0.9182:0.0	.	114	O75462	CRLF1_HUMAN	F	114	ENSP00000376188:L114F	ENSP00000376188:L114F	L	-	1	0	CRLF1	18571432	1.000000	0.71417	0.998000	0.56505	0.793000	0.44817	5.873000	0.69644	2.449000	0.82847	0.511000	0.50034	CTC		0.672	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			14	44	0	0	0	1	0	14	44				
CBWD6	644019	broad.mit.edu	37	9	69247573	69247573	+	Missense_Mutation	SNP	C	C	T	rs200427376		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:69247573C>T	ENST00000377457.5	-	5	544	c.439G>A	c.(439-441)Gct>Act	p.A147T	CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Missense_Mutation_p.A111T	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	147							ATP binding (GO:0005524)			lung(4)	4						AACATAGAAGCCACTGCACGT	0.269																																						ENST00000377457.5																			0				lung(4)	4						c.(439-441)Gct>Act		COBW domain containing 6							21.0	14.0	16.0					9																	69247573		1993	3596	5589	SO:0001583	missense	644019						ATP binding	g.chr9:69247573C>T		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.439G>A	9.37:g.69247573C>T	ENSP00000366677:p.Ala147Thr					CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Missense_Mutation_p.A111T	p.A147T	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN			5	544	-			147						Missense_Mutation	SNP	ENST00000377457.5	37	c.439G>A	CCDS43827.1	.	.	.	.	.	.	.	.	.	.	.	14.66	2.601292	0.46423	.	.	ENSG00000204790	ENST00000377457;ENST00000377450;ENST00000377449;ENST00000377445;ENST00000536466	T;T	0.55588	0.51;0.51	2.63	2.63	0.31362	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.000000	0.85682	D	0.000000	T	0.60919	0.2306	M	0.89353	3.025	0.80722	D	1	B	0.26635	0.155	B	0.34873	0.191	T	0.67814	-0.5573	10	0.62326	D	0.03	-29.0935	11.0291	0.47761	0.0:1.0:0.0:0.0	.	147	Q4V339	CBWD6_HUMAN	T	147;147;111;147;147	ENSP00000366677:A147T;ENSP00000366668:A111T	ENSP00000366664:A147T	A	-	1	0	CBWD6	68537393	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	6.849000	0.75414	1.484000	0.48361	0.184000	0.17185	GCT		0.269	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822		4	27	0	0	0	1	0	4	27				
ZNF839	55778	broad.mit.edu	37	14	102808375	102808375	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:102808375A>G	ENST00000558850.1	+	8	2645	c.2295A>G	c.(2293-2295)ttA>ttG	p.L765L	AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000442396.2_Silent_p.L881L|ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000559185.1_Silent_p.L765L|ZNF839_ENST00000262236.5_Silent_p.L767L	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	765							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCCATGAGTTACTGTCTCAGG	0.512																																						ENST00000262236.5																			0				breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(2299-2301)ttA>ttG		zinc finger protein 839							40.0	40.0	40.0					14																	102808375		1914	4145	6059	SO:0001819	synonymous_variant	55778					intracellular	zinc ion binding	g.chr14:102808375A>G	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.2295A>G	14.37:g.102808375A>G						ZNF839_ENST00000442396.2_Silent_p.L881L|ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000559185.1_Silent_p.L765L|ZNF839_ENST00000558850.1_Silent_p.L765L	p.L767L	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN			8	2656	+			765					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Silent	SNP	ENST00000558850.1	37	c.2301A>G	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.742999	0.30865	.	.	ENSG00000022976	ENST00000398436	.	.	.	4.29	-3.94	0.04130	.	.	.	.	.	T	0.24314	0.0589	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.30909	-0.9962	5	0.48119	T	0.1	.	1.6	0.02672	0.1391:0.1149:0.3713:0.3747	.	.	.	.	C	432	.	ENSP00000381463:Y432C	Y	+	2	0	ZNF839	101878128	0.016000	0.18221	0.000000	0.03702	0.915000	0.54546	-0.167000	0.09940	-0.953000	0.03645	0.496000	0.49642	TAC		0.512	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2	NM_018335		11	64	0	0	0	1	0	11	64				
MAML2	84441	broad.mit.edu	37	11	95825905	95825905	+	Silent	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:95825905T>A	ENST00000524717.1	-	2	2574	c.1290A>T	c.(1288-1290)gtA>gtT	p.V430V		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	430					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GGGCATGGGATACTTCCTGCC	0.607			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"""MECT1, CRTC3"""		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1288-1290)gtA>gtT		mastermind-like 2 (Drosophila)							38.0	39.0	39.0					11																	95825905		2152	4272	6424	SO:0001819	synonymous_variant	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95825905T>A	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1290A>T	11.37:g.95825905T>A							p.V430V	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			2	2574	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	430					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	c.1290A>T	CCDS44714.1																																																																																				0.607	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			6	78	0	0	0	1	0	6	78				
TCEB1	6921	broad.mit.edu	37	8	74868286	74868286	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:74868286C>T	ENST00000522337.1	-	4	327	c.8G>A	c.(7-9)gGa>gAa	p.G3E	TCEB1_ENST00000520210.1_5'UTR|TCEB1_ENST00000518127.1_Missense_Mutation_p.G3E|TCEB1_ENST00000520242.1_Missense_Mutation_p.G3E|TCEB1_ENST00000519487.1_Missense_Mutation_p.G3E|TCEB1_ENST00000602840.1_Missense_Mutation_p.G3E|TCEB1_ENST00000523815.1_Missense_Mutation_p.G3E|TCEB1_ENST00000284811.8_Missense_Mutation_p.G3E			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	3					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			TTTCTCCTCTCCATCTAAAGT	0.408																																						ENST00000602840.1																			0				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7						c.(7-9)gGa>gAa		transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)							70.0	67.0	68.0					8																	74868286		2203	4300	6503	SO:0001583	missense	6921				interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding	g.chr8:74868286C>T	L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"""transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"""			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.8G>A	8.37:g.74868286C>T	ENSP00000429906:p.Gly3Glu					TCEB1_ENST00000523815.1_Missense_Mutation_p.G3E|TCEB1_ENST00000519487.1_Missense_Mutation_p.G3E|TCEB1_ENST00000520210.1_5'UTR|TCEB1_ENST00000520242.1_Missense_Mutation_p.G3E|TCEB1_ENST00000284811.8_Missense_Mutation_p.G3E|TCEB1_ENST00000518127.1_Missense_Mutation_p.G3E|TCEB1_ENST00000522337.1_Missense_Mutation_p.G3E	p.G3E			Q15369	ELOC_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)		3	202	-	Breast(64;0.0311)		3					E5RGD9|Q567Q6	Missense_Mutation	SNP	ENST00000522337.1	37	c.8G>A	CCDS34910.1	.	.	.	.	.	.	.	.	.	.	c	14.71	2.617755	0.46736	.	.	ENSG00000154582	ENST00000518127;ENST00000520242;ENST00000519487;ENST00000284811;ENST00000522337;ENST00000523815;ENST00000519082;ENST00000519021	.	.	.	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000002	T	0.52789	0.1756	N	0.21617	0.685	0.58432	D	0.999999	B	0.14012	0.009	B	0.12156	0.007	T	0.46775	-0.9167	9	0.51188	T	0.08	-7.0511	19.5334	0.95239	0.0:1.0:0.0:0.0	.	3	Q15369	ELOC_HUMAN	E	3	.	ENSP00000284811:G3E	G	-	2	0	TCEB1	75030840	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.270000	0.65547	2.616000	0.88540	0.650000	0.86243	GGA		0.408	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1	NM_005648		15	99	0	0	0	1	0	15	99				
TENM2	57451	broad.mit.edu	37	5	167674247	167674247	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:167674247A>G	ENST00000518659.1	+	27	6342	c.6303A>G	c.(6301-6303)gcA>gcG	p.A2101A	TENM2_ENST00000519204.1_Silent_p.A1980A|TENM2_ENST00000520394.1_Silent_p.A1862A|TENM2_ENST00000403607.2_Silent_p.A1925A|TENM2_ENST00000545108.1_Silent_p.A2100A	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2101					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TCCGCATCGCAAGCATCAAGC	0.517																																						ENST00000519204.1																			0											c.(5938-5940)gcA>gcG		teneurin transmembrane protein 2							178.0	177.0	178.0					5																	167674247		2070	4199	6269	SO:0001819	synonymous_variant	57451							g.chr5:167674247A>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6303A>G	5.37:g.167674247A>G						TENM2_ENST00000520394.1_Silent_p.A1862A|TENM2_ENST00000403607.2_Silent_p.A1925A|TENM2_ENST00000518659.1_Silent_p.A2101A|TENM2_ENST00000545108.1_Silent_p.A2100A	p.A1980A							26	6058	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.5940A>G																																																																																					0.517	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		20	223	0	0	0	1	0	20	223				
FREM2	341640	broad.mit.edu	37	13	39422641	39422641	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:39422641A>G	ENST00000280481.7	+	8	6429	c.6213A>G	c.(6211-6213)gcA>gcG	p.A2071A	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2071	Calx-beta 3.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TAGATTTTGCACCTGGAGTCA	0.413																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(6211-6213)gcA>gcG		FRAS1 related extracellular matrix protein 2							156.0	153.0	154.0					13																	39422641		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39422641A>G	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6213A>G	13.37:g.39422641A>G						FREM2_ENST00000482551.1_3'UTR	p.A2071A	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	8	6429	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2071			Calx-beta 3.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.6213A>G	CCDS31960.1																																																																																				0.413	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		19	182	0	0	0	1	0	19	182				
DIAPH2	1730	broad.mit.edu	37	X	96136711	96136711	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:96136711C>T	ENST00000324765.8	+	5	928	c.581C>T	c.(580-582)cCg>cTg	p.P194L	RPA4_ENST00000373040.3_5'Flank|DIAPH2_ENST00000373061.3_Missense_Mutation_p.P194L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.P190L|DIAPH2_ENST00000373049.4_Missense_Mutation_p.P194L|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P194L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	194	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.P194L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ACCAGCAATCCGGTCAGGTAA	0.343																																						ENST00000324765.8																			1	Substitution - Missense(1)	p.P194L(1)	urinary_tract(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(580-582)cCg>cTg		diaphanous-related formin 2							83.0	77.0	79.0					X																	96136711		2203	4300	6503	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96136711C>T	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.581C>T	X.37:g.96136711C>T	ENSP00000321348:p.Pro194Leu					DIAPH2_ENST00000373049.4_Missense_Mutation_p.P194L|DIAPH2_ENST00000373061.3_Missense_Mutation_p.P194L|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P194L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.P190L	p.P194L			O60879	DIAP2_HUMAN			5	928	+			194			GBD/FH3.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.581C>T	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466875	0.63625	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	5.59	5.59	0.84812	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.95379	0.8500	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.996	D	0.95943	0.8948	10	0.87932	D	0	.	18.6126	0.91291	0.0:1.0:0.0:0.0	.	194;194;201	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	L	194;190;194;194;194;201	ENSP00000362152:P194L;ENSP00000362145:P190L;ENSP00000348082:P194L;ENSP00000362140:P194L;ENSP00000321348:P194L	ENSP00000321348:P194L	P	+	2	0	DIAPH2	96023367	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	7.403000	0.79983	2.338000	0.79540	0.594000	0.82650	CCG		0.343	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		20	24	0	0	0	1	0	20	24				
SLC9A5	6553	broad.mit.edu	37	16	67305080	67305080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67305080G>A	ENST00000299798.11	+	16	2723	c.2658G>A	c.(2656-2658)tgG>tgA	p.W886*		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	886					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CCTCCCACTGGTGCATCCAGT	0.642																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2656-2658)tgG>tgA		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5							16.0	17.0	16.0					16																	67305080		2042	4159	6201	SO:0001587	stop_gained	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67305080G>A		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2658G>A	16.37:g.67305080G>A	ENSP00000299798:p.Trp886*						p.W886*	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	16	2723	+		Ovarian(137;0.0563)	886					A5PKY7|Q9Y626	Nonsense_Mutation	SNP	ENST00000299798.11	37	c.2658G>A	CCDS42178.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.047554|6.047554	0.97236|0.97236	.|.	.|.	ENSG00000135740|ENSG00000135740	ENST00000360183|ENST00000299798	.|.	.|.	.|.	4.93|4.93	3.96|3.96	0.45880|0.45880	.|.	.|0.571117	.|0.16093	.|N	.|0.229970	T|.	0.40448|.	0.1117|.	.|.	.|.	.|.	0.45216|0.45216	D|D	0.99822|0.99822	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.13710|.	-1.0499|.	5|.	0.72032|0.05721	D|T	0.01|0.95	.|.	12.7595|12.7595	0.57356|0.57356	0.0:0.1648:0.8352:0.0|0.0:0.1648:0.8352:0.0	.|.	.|.	.|.	.|.	D|X	398|886	.|.	ENSP00000353311:G398D|ENSP00000299798:W886X	G|W	+|+	2|3	0|0	SLC9A5|SLC9A5	65862581|65862581	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	4.509000|4.509000	0.60448|0.60448	1.091000|1.091000	0.41335|0.41335	0.549000|0.549000	0.68633|0.68633	GGT|TGG		0.642	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			18	36	0	0	0	1	0	18	36				
PIWIL2	55124	broad.mit.edu	37	8	22211843	22211843	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:22211843A>G	ENST00000454009.2	+	22	3226	c.2717A>G	c.(2716-2718)tAt>tGt	p.Y906C	PIWIL2_ENST00000521356.1_Intron|PIWIL2_ENST00000356766.6_Missense_Mutation_p.Y906C	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	906	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCTACGCATTATGTCTGTGTT	0.458																																						ENST00000356766.6																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2716-2718)tAt>tGt		piwi-like RNA-mediated gene silencing 2							197.0	161.0	173.0					8																	22211843		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22211843A>G	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2717A>G	8.37:g.22211843A>G	ENSP00000406956:p.Tyr906Cys					PIWIL2_ENST00000521356.1_Intron|PIWIL2_ENST00000454009.2_Missense_Mutation_p.Y906C	p.Y906C	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	22	2865	+			906			Piwi.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.2717A>G	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.072797	0.76415	.	.	ENSG00000197181	ENST00000356766;ENST00000454009	T;T	0.49720	0.77;0.77	4.53	4.53	0.55603	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86661	0.1904	10	0.87932	D	0	-16.8818	13.1412	0.59436	1.0:0.0:0.0:0.0	.	906	Q8TC59	PIWL2_HUMAN	C	906	ENSP00000349208:Y906C;ENSP00000406956:Y906C	ENSP00000349208:Y906C	Y	+	2	0	PIWIL2	22267788	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.049000	0.93837	1.819000	0.53055	0.459000	0.35465	TAT		0.458	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			5	119	0	0	0	1	0	5	119				
SLC45A4	57210	broad.mit.edu	37	8	142228394	142228394	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:142228394T>C	ENST00000024061.3	-	4	1499	c.1192A>G	c.(1192-1194)Atc>Gtc	p.I398V	SLC45A4_ENST00000433583.2_Missense_Mutation_p.I391V|SLC45A4_ENST00000519067.1_Missense_Mutation_p.I398V|SLC45A4_ENST00000517878.1_Missense_Mutation_p.I449V	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GACGGCTTGATCAGCACCACG	0.687																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1192-1194)Atc>Gtc		solute carrier family 45, member 4							44.0	44.0	44.0					8																	142228394		2203	4298	6501	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142228394T>C	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1192A>G	8.37:g.142228394T>C	ENSP00000024061:p.Ile398Val					SLC45A4_ENST00000024061.3_Missense_Mutation_p.I398V|SLC45A4_ENST00000433583.2_Missense_Mutation_p.I391V|SLC45A4_ENST00000517878.1_Missense_Mutation_p.I449V	p.I398V			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1495	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		449					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.1192A>G	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.279163	0.80692	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.93393	0.7893	M	0.68593	2.085	0.52099	D	0.999944	D;D;D	0.60575	0.985;0.988;0.976	P;P;P	0.56163	0.729;0.793;0.793	D	0.91566	0.5268	10	0.14252	T	0.57	-52.607	15.378	0.74630	0.0:0.0:0.0:1.0	.	449;398;398	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	V	398;449;391;398	ENSP00000429059:I398V;ENSP00000428137:I449V;ENSP00000400799:I391V;ENSP00000024061:I398V	ENSP00000024061:I398V	I	-	1	0	SLC45A4	142297576	1.000000	0.71417	0.994000	0.49952	0.807000	0.45602	4.477000	0.60223	2.051000	0.60960	0.459000	0.35465	ATC		0.687	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		20	80	0	0	0	1	0	20	80				
RIPK4	54101	broad.mit.edu	37	21	43161737	43161737	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:43161737G>A	ENST00000352483.2	-	9	1824	c.1760C>T	c.(1759-1761)aCg>aTg	p.T587M	RIPK4_ENST00000544709.1_Missense_Mutation_p.T476M|RIPK4_ENST00000332512.3_Missense_Mutation_p.T539M|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000542057.1_Missense_Mutation_p.T476M			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	587					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTGCATGGGCGTCCGGCCCTC	0.647																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1759-1761)aCg>aTg		receptor-interacting serine-threonine kinase 4							60.0	51.0	54.0					21																	43161737		2203	4300	6503	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161737G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1760C>T	21.37:g.43161737G>A	ENSP00000330161:p.Thr587Met					RIPK4_ENST00000332512.3_Missense_Mutation_p.T539M|RIPK4_ENST00000544709.1_Missense_Mutation_p.T476M|RIPK4_ENST00000542057.1_Missense_Mutation_p.T476M	p.T587M			Q96T11	Q96T11_HUMAN			9	1824	-			539					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.1760C>T		.	.	.	.	.	.	.	.	.	.	G	18.48	3.634133	0.67130	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	4.99	4.1	0.47936	.	0.089188	0.47093	D	0.000257	D	0.88789	0.6532	H	0.95679	3.705	0.54753	D	0.99998	D	0.89917	1.0	D	0.66196	0.942	D	0.91085	0.4902	10	0.87932	D	0	-23.1609	12.4103	0.55464	0.0816:0.0:0.9184:0.0	.	539	P57078-2	.	M	539;587;476;476;278	ENSP00000332454:T539M;ENSP00000330161:T587M;ENSP00000441754:T476M;ENSP00000442901:T476M	ENSP00000330975:T278M	T	-	2	0	RIPK4	42034806	1.000000	0.71417	0.656000	0.29637	0.809000	0.45718	7.707000	0.84623	1.082000	0.41137	0.655000	0.94253	ACG		0.647	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		10	55	0	0	0	1	0	10	55				
IQCG	84223	broad.mit.edu	37	3	197639589	197639589	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:197639589C>T	ENST00000265239.6	-	9	1344	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	IQCG_ENST00000455191.1_Missense_Mutation_p.R307Q	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	307						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TGTATGAGTCCGGGCCTCTTC	0.448																																						ENST00000265239.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(919-921)cGg>cAg		IQ motif containing G							175.0	188.0	184.0					3																	197639589		2203	4300	6503	SO:0001583	missense	84223							g.chr3:197639589C>T	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.920G>A	3.37:g.197639589C>T	ENSP00000265239:p.Arg307Gln					IQCG_ENST00000455191.1_Missense_Mutation_p.R307Q	p.R307Q	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	9	1344	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		307					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.920G>A	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663345	0.47572	.	.	ENSG00000114473	ENST00000265239;ENST00000455191	T;T	0.52057	0.68;0.68	5.61	3.84	0.44239	.	0.237657	0.36101	N	0.002797	T	0.50871	0.1641	M	0.79475	2.455	0.80722	D	1	D	0.55605	0.972	P	0.45310	0.476	T	0.51568	-0.8689	10	0.33940	T	0.23	-6.981	11.1644	0.48535	0.0:0.8492:0.0:0.1508	.	307	Q9H095	IQCG_HUMAN	Q	307	ENSP00000265239:R307Q;ENSP00000407736:R307Q	ENSP00000265239:R307Q	R	-	2	0	IQCG	199123986	1.000000	0.71417	0.997000	0.53966	0.051000	0.14879	3.039000	0.49791	0.760000	0.33108	-0.154000	0.13518	CGG		0.448	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		68	218	0	0	0	1	0	68	218				
RHOBTB1	9886	broad.mit.edu	37	10	62634740	62634740	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:62634740T>C	ENST00000337910.5	-	9	2124	c.1787A>G	c.(1786-1788)gAa>gGa	p.E596G	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.E596G|RHOBTB1_ENST00000490827.1_5'UTR	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	596					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AGAGAGCACTTCTCCGTCAAT	0.463																																						ENST00000337910.5																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1786-1788)gAa>gGa		Rho-related BTB domain containing 1							112.0	105.0	107.0					10																	62634740		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62634740T>C	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1787A>G	10.37:g.62634740T>C	ENSP00000338671:p.Glu596Gly					RHOBTB1_ENST00000357917.4_Missense_Mutation_p.E596G|RHOBTB1_ENST00000490827.1_5'UTR	p.E596G	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN			9	2124	-	Prostate(12;0.0112)		596						Missense_Mutation	SNP	ENST00000337910.5	37	c.1787A>G	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.629931	0.67015	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.16324	2.35;2.35	5.66	5.66	0.87406	.	0.071052	0.56097	D	0.000021	T	0.21962	0.0529	L	0.60455	1.87	0.58432	D	0.999996	B	0.12013	0.005	B	0.10450	0.005	T	0.01711	-1.1290	10	0.72032	D	0.01	.	15.8991	0.79359	0.0:0.0:0.0:1.0	.	596	O94844	RHBT1_HUMAN	G	596	ENSP00000350595:E596G;ENSP00000338671:E596G	ENSP00000338671:E596G	E	-	2	0	RHOBTB1	62304746	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.634000	0.83273	2.154000	0.67381	0.460000	0.39030	GAA		0.463	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			26	96	0	0	0	1	0	26	96				
BMP2	650	broad.mit.edu	37	20	6759038	6759038	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:6759038A>G	ENST00000378827.4	+	3	1712	c.493A>G	c.(493-495)Agc>Ggc	p.S165G		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	165					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						AGGAAACAATAGCAGTTTCCA	0.408																																						ENST00000378827.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						c.(493-495)Agc>Ggc		bone morphogenetic protein 2	Simvastatin(DB00641)						63.0	66.0	65.0					20																	6759038		2203	4300	6503	SO:0001583	missense	650				BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	g.chr20:6759038A>G		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.493A>G	20.37:g.6759038A>G	ENSP00000368104:p.Ser165Gly						p.S165G	NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN			3	1712	+			165						Missense_Mutation	SNP	ENST00000378827.4	37	c.493A>G	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.357258	0.24598	.	.	ENSG00000125845	ENST00000378827	T	0.64803	-0.12	5.76	4.68	0.58851	Transforming growth factor-beta, N-terminal (1);	0.311077	0.47093	N	0.000254	T	0.59609	0.2206	M	0.66939	2.045	0.53688	D	0.999978	B	0.06786	0.001	B	0.01281	0.0	T	0.57171	-0.7857	10	0.48119	T	0.1	.	11.7354	0.51763	0.9313:0.0:0.0687:0.0	.	165	P12643	BMP2_HUMAN	G	165	ENSP00000368104:S165G	ENSP00000368104:S165G	S	+	1	0	BMP2	6707038	1.000000	0.71417	0.805000	0.32314	0.849000	0.48306	4.163000	0.58183	1.125000	0.41998	0.528000	0.53228	AGC		0.408	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			20	52	0	0	0	1	0	20	52				
LSAMP	4045	broad.mit.edu	37	3	116163801	116163801	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:116163801T>C	ENST00000490035.2	-	1	577	c.78A>G	c.(76-78)ggA>ggG	p.G26G	LSAMP_ENST00000539563.1_Splice_Site_p.G23G	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	26					cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GAACAGGCAGTCCTGTGGGAA	0.587																																						ENST00000539563.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.e2-1		limbic system-associated membrane protein							105.0	85.0	92.0					3																	116163801		2203	4300	6503	SO:0001819	synonymous_variant	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:116163801T>C	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.78A>G	3.37:g.116163801T>C						LSAMP_ENST00000490035.1_Silent_p.G26G	p.G23_splice			Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	2	68	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	26					Q8IV49	Splice_Site	SNP	ENST00000490035.2	37	c.67_splice	CCDS2982.1																																																																																				0.587	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		20	48	0	0	0	1	0	20	48				
KRT6A	3853	broad.mit.edu	37	12	52882330	52882330	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52882330G>A	ENST00000330722.6	-	7	1274	c.1206C>T	c.(1204-1206)tgC>tgT	p.C402C		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	402	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCAGGTTGGCGCACTGGAAGA	0.562																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(1204-1206)tgC>tgT		keratin 6A							62.0	59.0	60.0					12																	52882330		2203	4300	6503	SO:0001819	synonymous_variant	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52882330G>A	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1206C>T	12.37:g.52882330G>A							p.C402C	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1274	-			402			Coil 2.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	c.1206C>T	CCDS41786.1																																																																																				0.562	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		40	75	0	0	0	1	0	40	75				
ACADL	33	broad.mit.edu	37	2	211085431	211085431	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:211085431T>A	ENST00000233710.3	-	2	400	c.173A>T	c.(172-174)gAc>gTc	p.D58V	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	58					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		CCGGAAAATGTCATGCTCTGG	0.378																																						ENST00000233710.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						c.(172-174)gAc>gTc		acyl-CoA dehydrogenase, long chain							104.0	106.0	105.0					2																	211085431		2203	4300	6503	SO:0001583	missense	33				carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity	g.chr2:211085431T>A	M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"""acyl-Coenzyme A dehydrogenase, long chain"""			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.173A>T	2.37:g.211085431T>A	ENSP00000233710:p.Asp58Val					AC006994.2_ENST00000412065.1_RNA	p.D58V	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)	2	400	-		Renal(323;0.202)	58					B2R8T3|Q8IUN8	Missense_Mutation	SNP	ENST00000233710.3	37	c.173A>T	CCDS2389.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.258886	0.80246	.	.	ENSG00000115361	ENST00000233710	D	0.99716	-6.51	5.69	5.69	0.88448	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99606	0.9857	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97978	1.0347	10	0.66056	D	0.02	.	15.956	0.79889	0.0:0.0:0.0:1.0	.	58	P28330	ACADL_HUMAN	V	58	ENSP00000233710:D58V	ENSP00000233710:D58V	D	-	2	0	ACADL	210793676	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.950000	0.75977	2.167000	0.68274	0.533000	0.62120	GAC		0.378	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608		16	37	0	0	0	1	0	16	37				
UFL1	23376	broad.mit.edu	37	6	96971092	96971092	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:96971092A>G	ENST00000369278.4	+	2	214	c.148A>G	c.(148-150)Aca>Gca	p.T50A	UFL1-AS1_ENST00000430796.1_RNA	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	50	Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										AGTAGTTCATACACTCGATGG	0.363																																						ENST00000369278.4																			0											c.(148-150)Aca>Gca		UFM1-specific ligase 1							133.0	136.0	135.0					6																	96971092		2203	4300	6503	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96971092A>G	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.148A>G	6.37:g.96971092A>G	ENSP00000358283:p.Thr50Ala						p.T50A	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			2	214	+			50			Required for E3 UFM1-protein ligase activity.		A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.148A>G	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.679471	0.88542	.	.	ENSG00000014123	ENST00000369278	T	0.58060	0.36	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	M	0.89904	3.07	0.80722	D	1	D	0.64830	0.994	D	0.68943	0.961	T	0.78831	-0.2049	10	0.87932	D	0	-14.5474	13.8912	0.63740	1.0:0.0:0.0:0.0	.	50	O94874	UFL1_HUMAN	A	50	ENSP00000358283:T50A	ENSP00000358283:T50A	T	+	1	0	KIAA0776	97077813	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.818000	0.91991	1.957000	0.56846	0.477000	0.44152	ACA		0.363	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		27	93	0	0	0	1	0	27	93				
FLT3	2322	broad.mit.edu	37	13	28601232	28601232	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:28601232T>C	ENST00000241453.7	-	17	2281	c.2200A>G	c.(2200-2202)Aat>Gat	p.N734D	FLT3_ENST00000537084.1_Missense_Mutation_p.N734D|FLT3_ENST00000380982.4_Missense_Mutation_p.N734D	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	734	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TACCTGGAATTTGGATGTGAT	0.393			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(2200-2202)Aat>Gat		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						159.0	163.0	162.0					13																	28601232		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28601232T>C	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2200A>G	13.37:g.28601232T>C	ENSP00000241453:p.Asn734Asp					FLT3_ENST00000537084.1_Missense_Mutation_p.N734D|FLT3_ENST00000241453.7_Missense_Mutation_p.N734D	p.N734D			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	17	2281	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	734			Protein kinase.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.2200A>G	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185514	0.57909	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.78126	-1.09;-1.15;-0.9	6.03	6.03	0.97812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.072106	0.64402	D	0.000019	T	0.70064	0.3181	N	0.05574	-0.02	0.24863	N	0.992338	D;P	0.56035	0.974;0.833	P;B	0.53861	0.736;0.324	T	0.62877	-0.6761	10	0.14656	T	0.56	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	734;734	P36888-2;P36888	.;FLT3_HUMAN	D	734	ENSP00000241453:N734D;ENSP00000370369:N734D;ENSP00000438139:N734D	ENSP00000241453:N734D	N	-	1	0	FLT3	27499232	0.996000	0.38824	0.983000	0.44433	0.950000	0.60333	1.786000	0.38694	2.308000	0.77769	0.533000	0.62120	AAT		0.393	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			53	147	0	0	0	1	0	53	147				
IQCK	124152	broad.mit.edu	37	16	19775178	19775178	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:19775178A>G	ENST00000320394.6	+	6	1182	c.483A>G	c.(481-483)agA>agG	p.R161R	CTD-2380F24.1_ENST00000565817.1_RNA|CTD-2380F24.1_ENST00000568843.1_RNA|CTD-2380F24.1_ENST00000564490.1_RNA|IQCK_ENST00000541926.1_Silent_p.R161R|IQCK_ENST00000433597.2_Silent_p.R73R|IQCK_ENST00000564186.1_Silent_p.R161R|IQCK_ENST00000562762.1_3'UTR	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	161										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						AGAGGAAAAGAACCAAATTCA	0.343																																						ENST00000320394.6																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(481-483)agA>agG		IQ motif containing K							119.0	117.0	118.0					16																	19775178		2197	4300	6497	SO:0001819	synonymous_variant	124152							g.chr16:19775178A>G	AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.483A>G	16.37:g.19775178A>G						CTD-2380F24.1_ENST00000568843.1_RNA|IQCK_ENST00000564186.1_Silent_p.R161R|IQCK_ENST00000433597.2_Silent_p.R73R|IQCK_ENST00000562762.1_3'UTR|CTD-2380F24.1_ENST00000564490.1_RNA|CTD-2380F24.1_ENST00000565817.1_RNA|IQCK_ENST00000541926.1_Silent_p.R161R	p.R161R	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN			6	1182	+			161					B2RDU0|O43327|Q8NFF4	Silent	SNP	ENST00000320394.6	37	c.483A>G	CCDS10580.1																																																																																				0.343	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208		17	53	0	0	0	1	0	17	53				
SCO1	6341	broad.mit.edu	37	17	10600695	10600695	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:10600695A>G	ENST00000255390.5	-	1	190	c.130T>C	c.(130-132)Ttc>Ctc	p.F44L	SCO1_ENST00000582053.1_Intron|SCO1_ENST00000577427.1_Missense_Mutation_p.F44L|ADPRM_ENST00000379774.4_5'Flank	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	44					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						CGCGCGCAGAACTGCCTCAGC	0.692																																					Melanoma(128;591 1731 19711 31891 44645)	ENST00000255390.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						c.(130-132)Ttc>Ctc		SCO1 cytochrome c oxidase assembly protein							9.0	10.0	10.0					17																	10600695		2180	4287	6467	SO:0001583	missense	6341				cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding	g.chr17:10600695A>G	AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"""Mitochondrial respiratory chain complex assembly factors"""	10603	protein-coding gene	gene with protein product		603644	"""SCO (cytochrome oxidase deficient, yeast) homolog 1"", ""SCO cytochrome oxidase deficient homolog 1 (yeast)"""	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.130T>C	17.37:g.10600695A>G	ENSP00000255390:p.Phe44Leu					SCO1_ENST00000577427.1_Missense_Mutation_p.F44L	p.F44L	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN			1	190	-			44					B2RDM0	Missense_Mutation	SNP	ENST00000255390.5	37	c.130T>C	CCDS11158.1	.	.	.	.	.	.	.	.	.	.	A	9.529	1.110218	0.20714	.	.	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.83163	-1.69	4.1	-7.71	0.01254	.	2.316060	0.01490	N	0.017047	T	0.59101	0.2169	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.56854	-0.7910	10	0.11182	T	0.66	0.2884	7.1242	0.25463	0.2576:0.2443:0.498:0.0	.	44;44	A8MY34;O75880	.;SCO1_HUMAN	L	44	ENSP00000255390:F44L	ENSP00000255390:F44L	F	-	1	0	SCO1	10541420	0.000000	0.05858	0.000000	0.03702	0.572000	0.35998	-1.471000	0.02344	-1.423000	0.02002	-0.267000	0.10333	TTC		0.692	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252729.2	NM_004589		6	12	0	0	0	1	0	6	12				
GRM3	2913	broad.mit.edu	37	7	86416334	86416334	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:86416334G>A	ENST00000361669.2	+	3	2325	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	GRM3_ENST00000536043.1_Missense_Mutation_p.R281H|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.R407H|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R409H	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	409					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					AAAATGCAGCGCACCCTCTGT	0.498																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(1225-1227)cGc>cAc		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						187.0	163.0	171.0					7																	86416334		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86416334G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1226G>A	7.37:g.86416334G>A	ENSP00000355316:p.Arg409His					GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.R407H|GRM3_ENST00000439827.1_Missense_Mutation_p.R409H|GRM3_ENST00000536043.1_Missense_Mutation_p.R281H	p.R409H	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	2325	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		409					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1226G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184061	0.57800	.	.	ENSG00000198822	ENST00000361669;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	5.78	5.78	0.91487	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	L	0.37750	1.13	0.80722	D	1	B;B;B	0.28439	0.022;0.212;0.06	B;B;B	0.21708	0.007;0.036;0.027	T	0.74365	-0.3689	10	0.20046	T	0.44	.	18.9941	0.92806	0.0:0.0:1.0:0.0	.	281;409;409	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	H	409;281;409;407	ENSP00000355316:R409H;ENSP00000441407:R281H;ENSP00000398767:R409H;ENSP00000378209:R407H	ENSP00000355316:R409H	R	+	2	0	GRM3	86254270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.672000	0.68102	2.720000	0.93068	0.655000	0.94253	CGC		0.498	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			63	145	0	0	0	1	0	63	145				
TTLL1	25809	broad.mit.edu	37	22	43465725	43465725	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:43465725T>C	ENST00000266254.7	-	4	479	c.239A>G	c.(238-240)aAc>aGc	p.N80S	TTLL1_ENST00000331018.7_Missense_Mutation_p.N80S	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	80	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TCTTTTGATGTTCTTCACCAT	0.453																																						ENST00000331018.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(238-240)aAc>aGc		tubulin tyrosine ligase-like family, member 1							207.0	202.0	204.0					22																	43465725		2203	4300	6503	SO:0001583	missense	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43465725T>C	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"""Tubulin tyrosine ligase-like family"""	1312	protein-coding gene	gene with protein product		608955	"""tubulin tyrosine ligase-like 1"""	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.239A>G	22.37:g.43465725T>C	ENSP00000266254:p.Asn80Ser					TTLL1_ENST00000266254.7_Missense_Mutation_p.N80S	p.N80S			O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	4	479	-		Ovarian(80;0.0694)	80			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	ENST00000266254.7	37	c.239A>G	CCDS14043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.5|26.5	4.739226|4.739226	0.89573|0.89573	.|.	.|.	ENSG00000100271|ENSG00000100271	ENST00000331018;ENST00000266254|ENST00000495814	T;T|.	0.05855|.	3.38;3.38|.	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85141|0.85141	0.5629|0.5629	M|M	0.91972|0.91972	3.26|3.26	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.994;0.999|.	D|D	0.88415|0.88415	0.3024|0.3024	10|5	0.87932|.	D|.	0|.	.|.	16.3083|16.3083	0.82859|0.82859	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	80;80|.	O95922-4;O95922|.	.;TTLL1_HUMAN|.	S|A	80|6	ENSP00000333734:N80S;ENSP00000266254:N80S|.	ENSP00000266254:N80S|.	N|T	-|-	2|1	0|0	TTLL1|TTLL1	41795669|41795669	1.000000|1.000000	0.71417|0.71417	0.962000|0.962000	0.40283|0.40283	0.977000|0.977000	0.68977|0.68977	7.691000|7.691000	0.84191|0.84191	2.250000|2.250000	0.74265|0.74265	0.455000|0.455000	0.32223|0.32223	AAC|ACA		0.453	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		52	170	0	0	0	1	0	52	170				
B4GALNT3	283358	broad.mit.edu	37	12	667687	667687	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:667687T>A	ENST00000266383.5	+	18	2634	c.2621T>A	c.(2620-2622)aTc>aAc	p.I874N		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	874					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCGCACAGCATCATCTTCCTC	0.592																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2620-2622)aTc>aAc		beta-1,4-N-acetyl-galactosaminyl transferase 3							190.0	159.0	170.0					12																	667687		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:667687T>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2621T>A	12.37:g.667687T>A	ENSP00000266383:p.Ile874Asn						p.I874N	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		18	2634	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		874					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.2621T>A	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.093849	0.76870	.	.	ENSG00000139044	ENST00000266383	T	0.21031	2.03	4.85	4.85	0.62838	.	0.104930	0.64402	D	0.000005	T	0.52901	0.1763	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63550	-0.6612	10	0.87932	D	0	-25.3348	14.7394	0.69442	0.0:0.0:0.0:1.0	.	874	Q6L9W6	B4GN3_HUMAN	N	874	ENSP00000266383:I874N	ENSP00000266383:I874N	I	+	2	0	B4GALNT3	537948	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	7.948000	0.87774	1.933000	0.56026	0.379000	0.24179	ATC		0.592	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		50	230	0	0	0	1	0	50	230				
CNOT11	55571	broad.mit.edu	37	2	101889484	101889484	+	IGR	SNP	C	C	T	rs200411630		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:101889484C>T	ENST00000289382.3	+	0	2599				SNORD89_ENST00000390981.1_RNA|RNF149_ENST00000485752.1_5'Flank	NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11						cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											CACTGCAATTCGGCCTTTTCT	0.483																																						ENST00000390981.1																			0															C		0,1752		0,0,876	151.0	126.0	134.0			4.7	1.0	2		134	2,3980		0,2,1989	no	intergenic				0,2,2865	TT,TC,CC		0.0502,0.0,0.0349			101889484	2,5732	876	1991	2867	SO:0001628	intergenic_variant	692205							g.chr2:101889484C>T	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686		2.37:g.101889484C>T								NR_003070.1						0	27	-								Q6P2M9|Q8N681	RNA	SNP	ENST00000289382.3	37		CCDS2050.1																																																																																				0.483	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		27	71	0	0	0	1	0	27	71				
TRERF1	55809	broad.mit.edu	37	6	42236721	42236721	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:42236721T>C	ENST00000372922.4	-	5	1170	c.608A>G	c.(607-609)cAg>cGg	p.Q203R	TRERF1_ENST00000340840.2_Missense_Mutation_p.Q203R|TRERF1_ENST00000354325.2_Missense_Mutation_p.Q203R|TRERF1_ENST00000541110.1_Missense_Mutation_p.Q203R|TRERF1_ENST00000372917.4_Missense_Mutation_p.Q203R	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	203	Gln-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGGGCACCTGCTGGTAGCG	0.617																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(607-609)cAg>cGg		transcriptional regulating factor 1							41.0	44.0	43.0					6																	42236721		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42236721T>C	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.608A>G	6.37:g.42236721T>C	ENSP00000362013:p.Gln203Arg					TRERF1_ENST00000372922.4_Missense_Mutation_p.Q203R|TRERF1_ENST00000372917.4_Missense_Mutation_p.Q203R|TRERF1_ENST00000340840.2_Missense_Mutation_p.Q203R|TRERF1_ENST00000354325.2_Missense_Mutation_p.Q203R	p.Q203R			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	1176	-	Colorectal(47;0.196)		203			Gln-rich.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.608A>G	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.870552	0.51588	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.15603	2.69;2.41;2.65;2.41;2.41	5.39	1.19	0.21007	.	0.129873	0.36034	N	0.002832	T	0.14527	0.0351	L	0.27053	0.805	0.27734	N	0.944695	D;D;D;P;P	0.69078	0.997;0.974;0.974;0.61;0.61	D;D;D;B;B	0.75484	0.986;0.914;0.914;0.215;0.215	T	0.13415	-1.0510	10	0.62326	D	0.03	-6.5601	13.9464	0.64086	0.0:0.0:0.4912:0.5088	.	203;203;203;42;42	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	R	203	ENSP00000439689:Q203R;ENSP00000362008:Q203R;ENSP00000362013:Q203R;ENSP00000339438:Q203R;ENSP00000346285:Q203R	ENSP00000339438:Q203R	Q	-	2	0	TRERF1	42344699	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.117000	0.31234	0.298000	0.22638	0.379000	0.24179	CAG		0.617	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		35	88	0	0	0	1	0	35	88				
ST5	6764	broad.mit.edu	37	11	8752085	8752085	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:8752085T>A	ENST00000534127.1	-	6	1137	c.752A>T	c.(751-753)gAc>gTc	p.D251V	ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.D251V|ST5_ENST00000357665.1_Missense_Mutation_p.D251V	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	251					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GTAGAAAGAGTCCCGGACAGG	0.627																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(751-753)gAc>gTc		suppression of tumorigenicity 5							36.0	44.0	41.0					11																	8752085		2199	4295	6494	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8752085T>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.752A>T	11.37:g.8752085T>A	ENSP00000433528:p.Asp251Val					ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.D251V|ST5_ENST00000313726.6_Missense_Mutation_p.D251V	p.D251V	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	1137	-			251					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.752A>T	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.702439	0.68501	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665	T;T;T	0.23147	1.92;1.92;1.92	5.7	5.7	0.88788	.	0.303789	0.28841	N	0.013964	T	0.32224	0.0822	L	0.53249	1.67	0.80722	D	1	P	0.48764	0.915	P	0.45343	0.477	T	0.03249	-1.1056	10	0.42905	T	0.14	-11.9933	16.2838	0.82709	0.0:0.0:0.0:1.0	.	251	P78524	ST5_HUMAN	V	251	ENSP00000433528:D251V;ENSP00000319678:D251V;ENSP00000350294:D251V	ENSP00000319678:D251V	D	-	2	0	ST5	8708661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.344000	0.65981	2.308000	0.77769	0.533000	0.62120	GAC		0.627	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		37	107	0	0	0	1	0	37	107				
GPR123	84435	broad.mit.edu	37	10	134942243	134942243	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:134942243T>A	ENST00000392607.3	+	7	1347	c.911T>A	c.(910-912)aTc>aAc	p.I304N	GPR123_ENST00000607359.1_Missense_Mutation_p.I1023N|GPR123_ENST00000392606.2_Missense_Mutation_p.I207N	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	304					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TTCGTGCTCATCCACCACTGC	0.687																																						ENST00000607359.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14						c.(3067-3069)aTc>aAc		G protein-coupled receptor 123							44.0	35.0	38.0					10																	134942243		2197	4287	6484	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134942243T>A	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.911T>A	10.37:g.134942243T>A	ENSP00000376384:p.Ile304Asn					GPR123_ENST00000392606.2_Missense_Mutation_p.I207N|GPR123_ENST00000392607.3_Missense_Mutation_p.I304N	p.I1023N			Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	16	3068	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	304					A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.3068T>A	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	21.8	4.199971	0.79015	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.39997	1.05	4.91	4.91	0.64330	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.000000	0.56097	D	0.000037	T	0.61185	0.2327	M	0.69823	2.125	0.58432	D	0.999994	D;D	0.63880	0.983;0.993	P;D	0.66716	0.887;0.946	T	0.65738	-0.6095	10	0.87932	D	0	-43.5231	12.7887	0.57520	0.0:0.0:0.0:1.0	.	304;1023	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	N	1023;304;208	ENSP00000376384:I304N	ENSP00000357566:I1023N	I	+	2	0	GPR123	134792233	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.701000	0.61810	1.977000	0.57605	0.459000	0.35465	ATC		0.687	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			4	55	0	0	0	1	0	4	55				
EIF2AK4	440275	broad.mit.edu	37	15	40265842	40265842	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:40265842A>G	ENST00000263791.5	+	11	1753	c.1710A>G	c.(1708-1710)ctA>ctG	p.L570L	EIF2AK4_ENST00000382727.2_Silent_p.L570L|EIF2AK4_ENST00000559624.1_Silent_p.L570L	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	570					cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GCAACCGGCTACCCAGTGCTG	0.418																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(1708-1710)ctA>ctG		eukaryotic translation initiation factor 2 alpha kinase 4							169.0	159.0	162.0					15																	40265842		1893	4116	6009	SO:0001819	synonymous_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40265842A>G	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.1710A>G	15.37:g.40265842A>G						EIF2AK4_ENST00000559624.1_Silent_p.L570L|EIF2AK4_ENST00000382727.2_Silent_p.L570L	p.L570L	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	11	1753	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	570					C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	c.1710A>G	CCDS42016.1																																																																																				0.418	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			4	159	0	0	0	1	0	4	159				
ZNF57	126295	broad.mit.edu	37	19	2917426	2917426	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:2917426A>G	ENST00000306908.5	+	4	955	c.807A>G	c.(805-807)agA>agG	p.R269R	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Silent_p.R237R	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	269					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(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTTCAAAGACACATGACAA	0.453																																					NSCLC(150;910 1964 4303 10464 26498)	ENST00000306908.5																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(805-807)agA>agG		zinc finger protein 57							95.0	102.0	100.0					19																	2917426		2203	4300	6503	SO:0001819	synonymous_variant	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917426A>G	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.807A>G	19.37:g.2917426A>G						AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Silent_p.R237R	p.R269R	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	955	+			269					Q8N6R9	Silent	SNP	ENST00000306908.5	37	c.807A>G	CCDS12098.1																																																																																				0.453	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		7	107	0	0	0	1	0	7	107				
ZNF808	388558	broad.mit.edu	37	19	53058337	53058337	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:53058337T>C	ENST00000359798.4	+	5	2348	c.2168T>C	c.(2167-2169)gTa>gCa	p.V723A		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	723					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TCATCCCTTGTATGCCATCGT	0.433																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(2167-2169)gTa>gCa		zinc finger protein 808							219.0	212.0	214.0					19																	53058337		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53058337T>C	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2168T>C	19.37:g.53058337T>C	ENSP00000352846:p.Val723Ala						p.V723A	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	2348	+			723					Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.2168T>C	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.549686	0.00140	.	.	ENSG00000198482	ENST00000359798	T	0.35048	1.33	1.39	-2.79	0.05841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12518	0.0304	N	0.11106	0.095	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.27191	-1.0081	9	0.05721	T	0.95	.	2.6133	0.04897	0.4098:0.2763:0.0:0.3139	.	723	Q8N4W9	ZN808_HUMAN	A	723	ENSP00000352846:V723A	ENSP00000352846:V723A	V	+	2	0	ZNF808	57750149	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.738000	0.00101	-1.504000	0.01810	-0.736000	0.03550	GTA		0.433	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		77	261	0	0	0	1	0	77	261				
FAT1	2195	broad.mit.edu	37	4	187542754	187542754	+	Silent	SNP	G	G	A	rs367779643		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:187542754G>A	ENST00000441802.2	-	10	5195	c.4986C>T	c.(4984-4986)aaC>aaT	p.N1662N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1662	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCGGAGAGGCGTTGTCAGCAA	0.408										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(4984-4986)aaC>aaT		FAT atypical cadherin 1		G		0,3766		0,0,1883	95.0	91.0	92.0		4986	-2.8	1.0	4		92	1,8227		0,1,4113	no	coding-synonymous	FAT1	NM_005245.3		0,1,5996	AA,AG,GG		0.0122,0.0,0.0083		1662/4589	187542754	1,11993	1883	4114	5997	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187542754G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4986C>T	4.37:g.187542754G>A		HNSCC(5;0.00058)					p.N1662N	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	5195	-			1662			Cadherin 14.			Silent	SNP	ENST00000441802.2	37	c.4986C>T	CCDS47177.1																																																																																				0.408	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		12	65	0	0	0	1	0	12	65				
HSD3B7	80270	broad.mit.edu	37	16	30997480	30997480	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30997480T>C	ENST00000297679.5	+	3	370	c.277T>C	c.(277-279)Ttt>Ctt	p.F93L	AC135048.1_ENST00000602217.1_Silent_p.K18K|HSD3B7_ENST00000353250.5_Missense_Mutation_p.F93L|HSD3B7_ENST00000262520.6_Missense_Mutation_p.F93L	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	93					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGTAGACGTGTTTGGCAGGGC	0.622																																						ENST00000262520.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(277-279)Ttt>Ctt		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7							69.0	56.0	60.0					16																	30997480		2197	4300	6497	SO:0001583	missense	80270				bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	g.chr16:30997480T>C	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.277T>C	16.37:g.30997480T>C	ENSP00000297679:p.Phe93Leu					HSD3B7_ENST00000353250.5_Missense_Mutation_p.F93L|AC135048.1_ENST00000602217.1_Silent_p.K18K|HSD3B7_ENST00000297679.5_Missense_Mutation_p.F93L	p.F93L	NM_001142777.1	NP_001136249.1	Q9H2F3	3BHS7_HUMAN			3	567	+			93					Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	37	c.277T>C	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.053976	0.55218	.	.	ENSG00000099377	ENST00000262520;ENST00000353250;ENST00000297679	D;D;D	0.84070	-1.8;-1.8;-1.8	4.84	4.84	0.62591	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.172843	0.53938	D	0.000042	T	0.69269	0.3092	N	0.11818	0.18	0.41446	D	0.987954	B;B	0.12013	0.001;0.005	B;B	0.22152	0.01;0.038	T	0.64491	-0.6395	10	0.21014	T	0.42	-8.7901	13.579	0.61891	0.0:0.0:0.0:1.0	.	93;93	Q96M28;Q9H2F3	.;3BHS7_HUMAN	L	93	ENSP00000262520:F93L;ENSP00000370662:F93L;ENSP00000297679:F93L	ENSP00000262520:F93L	F	+	1	0	HSD3B7	30904981	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.177000	0.71961	2.032000	0.59987	0.454000	0.30748	TTT		0.622	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			18	33	0	0	0	1	0	18	33				
CASC1	55259	broad.mit.edu	37	12	25260936	25260936	+	IGR	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:25260936T>C	ENST00000320267.9	-	0	2361				LRMP_ENST00000354454.3_Missense_Mutation_p.L481P|LRMP_ENST00000547044.1_Missense_Mutation_p.L481P|LRMP_ENST00000548766.1_Missense_Mutation_p.L481P	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1											breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TGGACGTCTCTAGAACATATC	0.463																																						ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1441-1443)cTa>cCa		lymphoid-restricted membrane protein							114.0	109.0	111.0					12																	25260936		2203	4300	6503	SO:0001628	intergenic_variant	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25260936T>C	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195		12.37:g.25260936T>C						LRMP_ENST00000548766.1_Missense_Mutation_p.L481P|LRMP_ENST00000547044.1_Missense_Mutation_p.L481P	p.L481P	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN			21	2271	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		537					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1442T>C	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.397671	0.62177	.	.	ENSG00000118308	ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	5.53	5.53	0.82687	.	0.168846	0.40144	N	0.001169	T	0.41858	0.1177	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.32851	-0.9891	10	0.72032	D	0.01	-9.7409	14.4914	0.67654	0.0:0.0:0.0:1.0	.	537	Q12912	LRMP_HUMAN	P	481;428;481;481	ENSP00000346442:L481P;ENSP00000444056:L428P;ENSP00000446496:L481P;ENSP00000450246:L481P	ENSP00000346442:L481P	L	+	2	0	LRMP	25152203	0.980000	0.34600	0.960000	0.40013	0.298000	0.27526	6.434000	0.73408	2.103000	0.63969	0.455000	0.32223	CTA		0.463	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		7	137	0	0	0	1	0	7	137				
PFKL	5211	broad.mit.edu	37	21	45745855	45745855	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:45745855A>G	ENST00000349048.4	+	20	2056	c.2001A>G	c.(1999-2001)ccA>ccG	p.P667P	PFKL_ENST00000403390.1_Silent_p.P714P|AP001062.8_ENST00000422357.1_RNA	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	667	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GTGGCGCTCCAACCCCCTTTG	0.652																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(2140-2142)ccA>ccG		phosphofructokinase, liver							73.0	66.0	69.0					21																	45745855		2203	4300	6503	SO:0001819	synonymous_variant	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45745855A>G		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.2001A>G	21.37:g.45745855A>G						PFKL_ENST00000349048.4_Silent_p.P667P	p.P714P			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	21	2142	+			667					Q96A64|Q96IH4|Q9BR91	Silent	SNP	ENST00000349048.4	37	c.2142A>G	CCDS33582.1																																																																																				0.652	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			10	23	0	0	0	1	0	10	23				
ATP5G2	517	broad.mit.edu	37	12	54063664	54063664	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:54063664C>T	ENST00000549164.1	-	3	295	c.108G>A	c.(106-108)ctG>ctA	p.L36L	ATP5G2_ENST00000602871.1_Silent_p.L36L|ATP5G2_ENST00000550241.1_5'Flank|ATP5G2_ENST00000394349.3_Silent_p.L93L|ATP5G2_ENST00000338662.5_Silent_p.L52L			Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	36					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CCTCATCTGTCAGTATCTCCG	0.557																																						ENST00000338662.5																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						c.(154-156)ctG>ctA		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)							171.0	136.0	148.0					12																	54063664		2203	4300	6503	SO:0001819	synonymous_variant	517				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding	g.chr12:54063664C>T	X69908	CCDS8863.2, CCDS31812.1	12q13.13	2012-10-12	2010-06-11		ENSG00000135390	ENSG00000135390		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	842	protein-coding gene	gene with protein product		603193	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)"""			8328972	Standard	NM_005176		Approved		uc001sec.3	Q06055	OTTHUMG00000133442	ENST00000549164.1:c.108G>A	12.37:g.54063664C>T						ATP5G2_ENST00000602871.1_Silent_p.L36L|ATP5G2_ENST00000394349.3_Silent_p.L93L|ATP5G2_ENST00000549164.1_Silent_p.L36L	p.L52L	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN			3	1361	-			36					B3KQQ6	Silent	SNP	ENST00000549164.1	37	c.156G>A																																																																																					0.557	ATP5G2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000407403.1	NM_005176		39	54	0	0	0	1	0	39	54				
CNTRL	11064	broad.mit.edu	37	9	123888058	123888058	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:123888058A>C	ENST00000373855.1	+	14	2129	c.1869A>C	c.(1867-1869)gaA>gaC	p.E623D	CNTRL_ENST00000238341.5_Missense_Mutation_p.E623D|CNTRL_ENST00000373850.1_Missense_Mutation_p.E71D|CNTRL_ENST00000373847.1_Missense_Mutation_p.E71D			Q7Z7A1	CNTRL_HUMAN	centriolin	623					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGTTGCAAGAATACCTGGGGA	0.453																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(1867-1869)gaA>gaC		centriolin							123.0	125.0	124.0					9																	123888058		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123888058A>C	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1869A>C	9.37:g.123888058A>C	ENSP00000362962:p.Glu623Asp					CNTRL_ENST00000238341.5_Missense_Mutation_p.E623D|CNTRL_ENST00000373847.1_Missense_Mutation_p.E71D|CNTRL_ENST00000373850.1_Missense_Mutation_p.E71D	p.E623D			Q7Z7A1	CNTRL_HUMAN			14	2129	+			623					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.1869A>C	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.675234	0.47781	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.33654	1.67;1.67;1.4;1.41	5.59	0.178	0.15058	.	.	.	.	.	T	0.18130	0.0435	N	0.20986	0.625	0.30659	N	0.754602	B;B;B	0.26445	0.015;0.037;0.149	B;B;B	0.20384	0.012;0.024;0.029	T	0.20840	-1.0263	9	0.33141	T	0.24	.	1.7576	0.02985	0.4761:0.2518:0.1497:0.1223	.	623;623;623	B2RP65;F5GZN0;Q7Z7A1	.;.;CNTRL_HUMAN	D	623;623;623;105;71;71	ENSP00000362962:E623D;ENSP00000238341:E623D;ENSP00000362956:E71D;ENSP00000362953:E71D	ENSP00000238341:E623D	E	+	3	2	CNTRL	122927879	0.980000	0.34600	0.999000	0.59377	0.969000	0.65631	0.050000	0.14120	0.380000	0.24823	0.528000	0.53228	GAA		0.453	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		4	218	0	0	0	1	0	4	218				
APAF1	317	broad.mit.edu	37	12	99077025	99077025	+	Silent	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:99077025C>A	ENST00000551964.1	+	15	2887	c.2151C>A	c.(2149-2151)gcC>gcA	p.A717A	APAF1_ENST00000549007.1_Silent_p.A717A|APAF1_ENST00000547045.1_Silent_p.A717A|APAF1_ENST00000359972.2_Silent_p.A706A|APAF1_ENST00000357310.1_Silent_p.A717A|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000550527.1_Silent_p.A706A|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Silent_p.A717A	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	717					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTCTCTTAGCCACTGGGTCAA	0.398																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(2149-2151)gcC>gcA		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						187.0	163.0	171.0					12																	99077025		2203	4300	6503	SO:0001819	synonymous_variant	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99077025C>A	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2151C>A	12.37:g.99077025C>A						APAF1_ENST00000551964.1_Silent_p.A717A|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000550527.1_Silent_p.A706A|APAF1_ENST00000549007.1_Silent_p.A717A|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000547045.1_Silent_p.A717A|APAF1_ENST00000339433.3_Silent_p.A717A|APAF1_ENST00000359972.2_Silent_p.A706A	p.A717A	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			15	2728	+			717					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	ENST00000551964.1	37	c.2151C>A	CCDS9069.1																																																																																				0.398	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		34	159	1	0	2.75727e-19	1	2.90337e-19	34	159				
MPRIP	23164	broad.mit.edu	37	17	17045965	17045965	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:17045965T>C	ENST00000341712.4	+	8	921	c.921T>C	c.(919-921)ttT>ttC	p.F307F	MPRIP_ENST00000395811.5_Silent_p.F307F|MPRIP_ENST00000444976.1_Silent_p.F307F|MPRIP_ENST00000395804.3_Silent_p.F307F			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	307	Interaction with F-actin. {ECO:0000250}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TTGAAAAGTTTGAGGCCTTGG	0.607																																						ENST00000395811.5																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(919-921)ttT>ttC		myosin phosphatase Rho interacting protein							78.0	75.0	76.0					17																	17045965		2203	4300	6503	SO:0001819	synonymous_variant	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17045965T>C	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.921T>C	17.37:g.17045965T>C						MPRIP_ENST00000444976.1_Silent_p.F307F|MPRIP_ENST00000341712.4_Silent_p.F307F|MPRIP_ENST00000395804.3_Silent_p.F307F	p.F307F	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN			8	1010	+			307			Interaction with F-actin (By similarity).		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Silent	SNP	ENST00000341712.4	37	c.921T>C	CCDS32578.1																																																																																				0.607	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		33	85	0	0	0	1	0	33	85				
IL22RA2	116379	broad.mit.edu	37	6	137466909	137466909	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:137466909T>C	ENST00000296980.2	-	7	944	c.644A>G	c.(643-645)gAg>gGg	p.E215G	IL22RA2_ENST00000349184.4_Splice_Site_p.E183G|IL22RA2_ENST00000339602.3_Splice_Site_p.R126R	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	215	Fibronectin type-III 3.				cytokine-mediated signaling pathway (GO:0019221)|negative regulation of inflammatory response (GO:0050728)|regulation of tyrosine phosphorylation of Stat3 protein (GO:0042516)	cytosol (GO:0005829)|extracellular space (GO:0005615)	interleukin-22 binding (GO:0042017)|interleukin-22 receptor activity (GO:0042018)			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		AACCTTTTGCTCCTACACACG	0.413																																						ENST00000296980.2																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.e7-1		interleukin 22 receptor, alpha 2							100.0	100.0	100.0					6																	137466909		2203	4300	6503	SO:0001630	splice_region_variant	116379				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity	g.chr6:137466909T>C	AY044429	CCDS5182.1, CCDS5183.1, CCDS5184.1	6q24.1-q24.2	2008-02-05			ENSG00000164485	ENSG00000164485		"""Interleukins and interleukin receptors"""	14901	protein-coding gene	gene with protein product		606648				11481447, 11390454	Standard	NM_181309		Approved	CRF2-S1, IL-22BP	uc003qhl.3	Q969J5	OTTHUMG00000015655	ENST00000296980.2:c.643-1A>G	6.37:g.137466909T>C						IL22RA2_ENST00000349184.4_Splice_Site_p.E183_splice|IL22RA2_ENST00000339602.3_Splice_Site_p.R126_splice	p.E215_splice	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN		GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)	7	944	-	Colorectal(23;0.24)		215			Fibronectin type-III 3.		Q08AH7|Q6UWM1|Q96A41|Q96QR0	Splice_Site	SNP	ENST00000296980.2	37	c.642_splice	CCDS5182.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.099329	0.56183	.	.	ENSG00000164485	ENST00000349184;ENST00000296980	T;T	0.51071	0.72;0.72	5.87	5.87	0.94306	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.812629	0.11219	N	0.586891	T	0.21841	0.0526	.	.	.	0.80722	D	1	B;P	0.39181	0.268;0.663	B;B	0.36666	0.13;0.23	T	0.02596	-1.1136	9	0.21014	T	0.42	.	12.9575	0.58438	0.0:0.0:0.0:1.0	.	183;215	Q969J5-2;Q969J5	.;I22R2_HUMAN	G	183;215	ENSP00000296979:E183G;ENSP00000296980:E215G	ENSP00000296980:E215G	E	-	2	0	IL22RA2	137508602	0.996000	0.38824	0.906000	0.35671	0.043000	0.13939	3.035000	0.49759	2.371000	0.80710	0.533000	0.62120	GAG		0.413	IL22RA2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042399.1		Missense_Mutation	13	34	0	0	0	1	0	13	34				
KRIT1	889	broad.mit.edu	37	7	91870364	91870364	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:91870364A>G	ENST00000340022.2	-	5	1223	c.205T>C	c.(205-207)Ttg>Ctg	p.L69L	KRIT1_ENST00000412043.2_Silent_p.L69L|KRIT1_ENST00000466166.1_5'Flank|KRIT1_ENST00000394503.2_Silent_p.L69L|KRIT1_ENST00000394507.1_Silent_p.L69L|KRIT1_ENST00000394505.2_Silent_p.L69L	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	69	N-terminal domain similar to Nudix hydrolase domain.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACGTAATCCAATATGCCTTGT	0.338																																						ENST00000394507.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(205-207)Ttg>Ctg		KRIT1, ankyrin repeat containing							213.0	192.0	199.0					7																	91870364		2203	4300	6503	SO:0001819	synonymous_variant	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91870364A>G	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.205T>C	7.37:g.91870364A>G						KRIT1_ENST00000412043.2_Silent_p.L69L|KRIT1_ENST00000394503.2_Silent_p.L69L|KRIT1_ENST00000340022.2_Silent_p.L69L|KRIT1_ENST00000394505.2_Silent_p.L69L	p.L69L	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		6	988	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		69					A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Silent	SNP	ENST00000340022.2	37	c.205T>C	CCDS5624.1																																																																																				0.338	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			6	88	0	0	0	1	0	6	88				
TEX29	121793	broad.mit.edu	37	13	111995122	111995122	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:111995122A>G	ENST00000283547.1	+	5	388	c.259A>G	c.(259-261)Aaa>Gaa	p.K87E		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	87						integral component of membrane (GO:0016021)											GGAGAGCAGGAAAGAAAAGGC	0.547																																						ENST00000283547.1																			0											c.(259-261)Aaa>Gaa		testis expressed 29							61.0	55.0	57.0					13																	111995122		2203	4300	6503	SO:0001583	missense	121793					integral to membrane		g.chr13:111995122A>G	BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 16"""	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.259A>G	13.37:g.111995122A>G	ENSP00000283547:p.Lys87Glu						p.K87E	NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN			5	388	+			87						Missense_Mutation	SNP	ENST00000283547.1	37	c.259A>G	CCDS9522.1	.	.	.	.	.	.	.	.	.	.	A	9.319	1.057491	0.19907	.	.	ENSG00000153495	ENST00000283547	.	.	.	2.84	-1.8	0.07907	.	1.159720	0.06670	N	0.765958	T	0.26159	0.0638	N	0.14661	0.345	0.09310	N	1	B	0.18741	0.03	B	0.18871	0.023	T	0.34254	-0.9836	9	0.66056	D	0.02	-10.625	8.6864	0.34240	0.3639:0.6361:0.0:0.0	.	87	Q8N6K0	CM016_HUMAN	E	87	.	ENSP00000283547:K87E	K	+	1	0	C13orf16	110793123	0.008000	0.16893	0.002000	0.10522	0.016000	0.09150	0.650000	0.24858	-0.296000	0.08947	0.379000	0.24179	AAA		0.547	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045812.2	NM_152324		4	36	0	0	0	1	0	4	36				
ST3GAL5	8869	broad.mit.edu	37	2	86067278	86067278	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:86067278G>A	ENST00000377332.3	-	7	1354	c.1246C>T	c.(1246-1248)Cgt>Tgt	p.R416C	ST3GAL5_ENST00000393808.3_Missense_Mutation_p.R393C|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.R388C	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	416					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						CAAAATTCACGATCAATGCCT	0.413																																						ENST00000377332.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1246-1248)Cgt>Tgt		ST3 beta-galactoside alpha-2,3-sialyltransferase 5							145.0	129.0	135.0					2																	86067278		2203	4300	6503	SO:0001583	missense	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86067278G>A	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.1246C>T	2.37:g.86067278G>A	ENSP00000366549:p.Arg416Cys					ST3GAL5_ENST00000393805.1_Missense_Mutation_p.R388C|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.R393C	p.R416C	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN			7	1354	-			416					B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Missense_Mutation	SNP	ENST00000377332.3	37	c.1246C>T	CCDS1986.2	.	.	.	.	.	.	.	.	.	.	g	0.024	-1.388299	0.01185	.	.	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332;ENST00000393803	T;T;T	0.28454	1.63;1.65;1.61	5.79	2.07	0.26955	.	0.286735	0.45361	N	0.000365	T	0.05135	0.0137	N	0.00210	-1.845	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35674	-0.9779	10	0.02654	T	1	-3.4112	5.9393	0.19184	0.7428:0.0:0.1352:0.122	.	388;416;393	Q9UNP4-2;Q9UNP4;Q9UNP4-3	.;SIAT9_HUMAN;.	C	393;388;416;121	ENSP00000377397:R393C;ENSP00000377394:R388C;ENSP00000366549:R416C	ENSP00000366549:R416C	R	-	1	0	ST3GAL5	85920789	0.997000	0.39634	0.777000	0.31699	0.078000	0.17371	3.330000	0.52068	0.112000	0.17975	-0.285000	0.09966	CGT		0.413	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		22	72	0	0	0	1	0	22	72				
SCUBE2	57758	broad.mit.edu	37	11	9068952	9068952	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:9068952G>A	ENST00000309263.3	-	15	1938	c.1866C>T	c.(1864-1866)cgC>cgT	p.R622R	SCUBE2_ENST00000520467.1_Silent_p.R651R|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000457346.2_Silent_p.R651R|SCUBE2_ENST00000450649.2_Silent_p.R496R			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	622						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ACTCTGCCTGGCGTTCAGATG	0.557																																						ENST00000457346.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1951-1953)cgC>cgT		signal peptide, CUB domain, EGF-like 2							85.0	79.0	81.0					11																	9068952		2201	4296	6497	SO:0001819	synonymous_variant	57758					extracellular region	calcium ion binding	g.chr11:9068952G>A	AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1866C>T	11.37:g.9068952G>A						SCUBE2_ENST00000520467.1_Silent_p.R651R|SCUBE2_ENST00000450649.2_Silent_p.R496R|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Silent_p.R622R	p.R651R			Q9NQ36	SCUB2_HUMAN		all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)	16	2027	-			622					Q2NKQ8|Q6ZWI1	Silent	SNP	ENST00000309263.3	37	c.1953C>T																																																																																					0.557	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974		5	85	0	0	0	1	0	5	85				
GSG1	83445	broad.mit.edu	37	12	13243713	13243713	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:13243713G>T	ENST00000432710.2	-	2	220	c.88C>A	c.(88-90)Cta>Ata	p.L30I	GSG1_ENST00000537302.1_Missense_Mutation_p.L17I|GSG1_ENST00000396302.3_Missense_Mutation_p.L17I|GSG1_ENST00000337630.6_Missense_Mutation_p.L17I|GSG1_ENST00000457134.2_Missense_Mutation_p.L17I|GSG1_ENST00000351606.6_Missense_Mutation_p.L30I|GSG1_ENST00000324458.8_Missense_Mutation_p.L30I|GSG1_ENST00000396310.2_Missense_Mutation_p.L14I	NM_001206842.1	NP_001193771.1	Q2KHT4	GSG1_HUMAN	germ cell associated 1	17						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		ATGGCAGATAGGAGTGTCCGC	0.562																																						ENST00000337630.6																			0				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10						c.(49-51)Cta>Ata		germ cell associated 1							101.0	90.0	94.0					12																	13243713		2203	4300	6503	SO:0001583	missense	83445					endoplasmic reticulum membrane|integral to membrane		g.chr12:13243713G>T	BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000432710.2:c.88C>A	12.37:g.13243713G>T	ENSP00000405032:p.Leu30Ile					GSG1_ENST00000396302.3_Missense_Mutation_p.L17I|GSG1_ENST00000537302.1_Missense_Mutation_p.L17I|GSG1_ENST00000324458.8_Missense_Mutation_p.L30I|GSG1_ENST00000457134.2_Missense_Mutation_p.L17I|GSG1_ENST00000432710.2_Missense_Mutation_p.L30I|GSG1_ENST00000396310.2_Missense_Mutation_p.L14I|GSG1_ENST00000351606.6_Missense_Mutation_p.L30I	p.L17I	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	2	116	-		Prostate(47;0.183)	17					Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Missense_Mutation	SNP	ENST00000432710.2	37	c.49C>A	CCDS55808.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931426	0.34096	.	.	ENSG00000111305	ENST00000337630;ENST00000324458;ENST00000396310;ENST00000396302;ENST00000457134;ENST00000432710;ENST00000537302;ENST00000351606;ENST00000405543;ENST00000545401;ENST00000542415;ENST00000545699	T;T;T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.4	-5.48	0.02592	.	0.783770	0.11517	N	0.556125	T	0.26304	0.0642	L	0.41079	1.255	0.19945	N	0.999945	B;B;B;B;B;B;B;B	0.30727	0.118;0.054;0.292;0.039;0.006;0.025;0.07;0.067	B;B;B;B;B;B;B;B	0.33890	0.172;0.034;0.097;0.058;0.015;0.023;0.057;0.058	T	0.26780	-1.0093	10	0.46703	T	0.11	.	3.0506	0.06168	0.1099:0.2507:0.3076:0.3318	.	30;30;30;17;17;17;17;17	Q2KHT4-7;Q2KHT4-6;G3XAB9;Q2KHT4;Q2KHT4-5;Q2KHT4-2;F1T0A0;F1T0A1	.;.;.;GSG1_HUMAN;.;.;.;.	I	17;30;14;17;17;30;17;30;14;30;30;17	ENSP00000336816:L17I;ENSP00000320838:L30I;ENSP00000379604:L14I;ENSP00000379596:L17I;ENSP00000398384:L17I;ENSP00000405032:L30I;ENSP00000441718:L17I;ENSP00000336857:L30I;ENSP00000445884:L30I;ENSP00000439676:L30I;ENSP00000440684:L17I	ENSP00000320838:L30I	L	-	1	2	GSG1	13134980	0.085000	0.21516	0.138000	0.22173	0.960000	0.62799	0.018000	0.13422	-0.714000	0.04975	0.561000	0.74099	CTA		0.562	GSG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316546.1	NM_031289		22	105	1	0	2.70639e-06	1	2.77089e-06	22	105				
XAB2	56949	broad.mit.edu	37	19	7692197	7692197	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:7692197A>G	ENST00000358368.4	-	4	491	c.454T>C	c.(454-456)Tat>Cat	p.Y152H	PET100_ENST00000594797.1_5'Flank|XAB2_ENST00000534844.1_Missense_Mutation_p.Y149H|PET100_ENST00000601406.1_5'Flank|PET100_ENST00000456958.3_5'Flank|CTD-3214H19.4_ENST00000595866.1_5'Flank	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	152					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						AAGCGCAGATACAGGGGCCAA	0.647								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(454-456)Tat>Cat	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							58.0	65.0	63.0					19																	7692197		2203	4300	6503	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7692197A>G	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.454T>C	19.37:g.7692197A>G	ENSP00000351137:p.Tyr152His					XAB2_ENST00000534844.1_Missense_Mutation_p.Y149H	p.Y152H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			4	491	-			152					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.454T>C	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.413127	0.83449	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.45276	0.9;0.9	5.02	4.01	0.46588	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000001	T	0.71476	0.3344	H	0.95187	3.635	0.58432	D	0.999996	D	0.89917	1.0	D	0.76071	0.987	T	0.76217	-0.3040	10	0.87932	D	0	-24.4376	9.7282	0.40344	0.9163:0.0:0.0837:0.0	.	152	Q9HCS7	SYF1_HUMAN	H	152;149	ENSP00000351137:Y152H;ENSP00000438225:Y149H	ENSP00000351137:Y152H	Y	-	1	0	XAB2	7598197	1.000000	0.71417	0.996000	0.52242	0.920000	0.55202	8.674000	0.91191	0.766000	0.33244	0.379000	0.24179	TAT		0.647	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		12	41	0	0	0	1	0	12	41				
GREM2	64388	broad.mit.edu	37	1	240656306	240656306	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:240656306C>T	ENST00000318160.4	-	2	736	c.470G>A	c.(469-471)tGc>tAc	p.C157Y		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	157	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CACGGACATGCACCGGCACTG	0.711																																						ENST00000318160.4																			0				endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10						c.(469-471)tGc>tAc		gremlin 2, DAN family BMP antagonist							41.0	42.0	42.0					1																	240656306		2203	4300	6503	SO:0001583	missense	64388				BMP signaling pathway	extracellular space	cytokine activity	g.chr1:240656306C>T	AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.470G>A	1.37:g.240656306C>T	ENSP00000318650:p.Cys157Tyr						p.C157Y	NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	736	-		all_cancers(173;0.0196)	157			CTCK.		Q86UD9	Missense_Mutation	SNP	ENST00000318160.4	37	c.470G>A	CCDS31070.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295147	0.81025	.	.	ENSG00000180875	ENST00000318160	T	0.67171	-0.25	5.23	4.32	0.51571	DAN (1);Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.84129	0.5404	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87321	0.2318	10	0.87932	D	0	-5.0422	13.7063	0.62641	0.0:0.9249:0.0:0.0751	.	157	Q9H772	GREM2_HUMAN	Y	157	ENSP00000318650:C157Y	ENSP00000318650:C157Y	C	-	2	0	GREM2	238722929	1.000000	0.71417	0.996000	0.52242	0.808000	0.45660	7.670000	0.83925	1.195000	0.43115	0.557000	0.71058	TGC		0.711	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	NM_022469		5	107	0	0	0	1	0	5	107				
DNAH17	8632	broad.mit.edu	37	17	76455109	76455109	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:76455109G>T	ENST00000585328.1	-	61	9944	c.9820C>A	c.(9820-9822)Ctg>Atg	p.L3274M	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.L3265M	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3265	Stalk. {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)			ATCCGGGACAGCTTCTCTTGT	0.587																																						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.(9793-9795)Ctg>Atg		dynein, axonemal, heavy chain 17							109.0	101.0	104.0					17																	76455109		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76455109G>T	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.9820C>A	17.37:g.76455109G>T	ENSP00000465516:p.Leu3274Met					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.L3274M	p.L3265M					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		61	9917	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.9793C>A		.	.	.	.	.	.	.	.	.	.	G	22.9	4.351966	0.82132	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	D	0.81579	-1.51	5.35	5.35	0.76521	.	0.000000	0.53938	D	0.000044	D	0.94571	0.8251	H	0.99104	4.43	0.40228	D	0.97781	D	0.76494	0.999	D	0.77004	0.989	D	0.97331	0.9950	10	0.87932	D	0	.	18.6873	0.91570	0.0:0.0:1.0:0.0	.	3274	E7EUM8	.	M	3274;3265	ENSP00000374490:L3265M	ENSP00000300671:L3274M	L	-	1	2	DNAH17	73966704	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.119000	0.71590	2.491000	0.84063	0.655000	0.94253	CTG		0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	140	1	0	0.150653	1	0.150988	4	140				
DVL1	1855	broad.mit.edu	37	1	1277865	1277865	+	Splice_Site	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:1277865C>T	ENST00000378888.5	-	3	525		c.e3-1		DVL1_ENST00000378891.5_Splice_Site			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1						axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	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)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCAGGACCAGCTGTGGAGGGA	0.701																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.e3-1		dishevelled segment polarity protein 1							18.0	20.0	20.0					1																	1277865		2193	4284	6477	SO:0001630	splice_region_variant	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1277865C>T	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.241-1G>A	1.37:g.1277865C>T						DVL1_ENST00000378891.5_Splice_Site				O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	3	525	-	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)						Q5TA33|Q5TA35	Splice_Site	SNP	ENST00000378888.5	37			.	.	.	.	.	.	.	.	.	.	C	10.99	1.507042	0.27036	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100	.	.	.	3.91	2.98	0.34508	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.146	0.54024	0.1728:0.8272:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DVL1	1267728	1.000000	0.71417	0.991000	0.47740	0.322000	0.28314	7.530000	0.81962	0.975000	0.38392	0.185000	0.17295	.		0.701	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421	Intron	11	17	0	0	0	1	0	11	17				
CRK	1398	broad.mit.edu	37	17	1340185	1340185	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:1340185C>T	ENST00000300574.2	-	2	646	c.506G>A	c.(505-507)tGg>tAg	p.W169*	CRK_ENST00000398970.5_Nonsense_Mutation_p.W169*|CRK_ENST00000572145.1_5'UTR|CRK_ENST00000574295.1_Intron	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	169	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		CGCATTCCACCACTGCTCTTC	0.502																																						ENST00000300574.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9						c.(505-507)tGg>tAg		v-crk avian sarcoma virus CT10 oncogene homolog							157.0	140.0	145.0					17																	1340185		2203	4300	6503	SO:0001587	stop_gained	1398				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding	g.chr17:1340185C>T	D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193		"""SH2 domain containing"""	2362	protein-coding gene	gene with protein product		164762				1690891	Standard	NM_005206		Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.506G>A	17.37:g.1340185C>T	ENSP00000300574:p.Trp169*					CRK_ENST00000574295.1_Intron|CRK_ENST00000398970.5_Nonsense_Mutation_p.W169*|CRK_ENST00000572145.1_5'UTR	p.W169*	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.083)	2	646	-			169			SH3 1.		A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	Nonsense_Mutation	SNP	ENST00000300574.2	37	c.506G>A	CCDS11002.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531603	0.96446	.	.	ENSG00000167193	ENST00000300574;ENST00000398970	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2975	17.8219	0.88653	0.0:1.0:0.0:0.0	.	.	.	.	X	169	.	ENSP00000300574:W169X	W	-	2	0	CRK	1286935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.687000	0.84139	2.802000	0.96397	0.561000	0.74099	TGG		0.502	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206679.1	NM_016823		54	136	0	0	0	1	0	54	136				
N4BP1	9683	broad.mit.edu	37	16	48596173	48596173	+	Silent	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:48596173C>A	ENST00000262384.3	-	2	617	c.381G>T	c.(379-381)gtG>gtT	p.V127V	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	127					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TAGCCATGACCACAGCCTCAG	0.438																																						ENST00000262384.3																			0				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17						c.(379-381)gtG>gtT		NEDD4 binding protein 1							69.0	71.0	70.0					16																	48596173		1958	4144	6102	SO:0001819	synonymous_variant	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48596173C>A	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.381G>T	16.37:g.48596173C>A						RP11-44I10.3_ENST00000563994.1_RNA	p.V127V	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN			2	617	-		all_cancers(37;0.179)|all_lung(18;0.11)	127					A7MD49|Q2YDX1	Silent	SNP	ENST00000262384.3	37	c.381G>T	CCDS45479.1																																																																																				0.438	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1	NM_014664		16	53	1	0	1.5739e-10	1	1.63252e-10	16	53				
CELSR3	1951	broad.mit.edu	37	3	48698495	48698495	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:48698495G>A	ENST00000164024.4	-	1	1853	c.1573C>T	c.(1573-1575)Cgc>Tgc	p.R525C	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.R525C	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	525	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGGCCGAGCGCGGCCCGGGT	0.637																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(1573-1575)Cgc>Tgc		cadherin, EGF LAG seven-pass G-type receptor 3							36.0	32.0	33.0					3																	48698495		2203	4299	6502	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48698495G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1573C>T	3.37:g.48698495G>A	ENSP00000164024:p.Arg525Cys					CELSR3_ENST00000164024.4_Missense_Mutation_p.R525C	p.R525C			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	1853	-			525			Cadherin 2.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.1573C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131658	0.77662	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.55234	0.53;0.53	5.62	5.62	0.85841	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.79227	0.4410	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	D	0.84248	0.0476	9	0.87932	D	0	.	14.4837	0.67599	0.0:0.0:0.8531:0.1469	.	525;595	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	C	525	ENSP00000164024:R525C;ENSP00000445694:R525C	ENSP00000164024:R525C	R	-	1	0	CELSR3	48673499	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.302000	0.59092	2.642000	0.89623	0.655000	0.94253	CGC		0.637	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		16	45	0	0	0	1	0	16	45				
AHCYL2	23382	broad.mit.edu	37	7	129064949	129064949	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:129064949A>G	ENST00000325006.3	+	15	1729	c.1675A>G	c.(1675-1677)Aag>Gag	p.K559E	AHCYL2_ENST00000446544.2_Missense_Mutation_p.K558E|AHCYL2_ENST00000531335.2_Missense_Mutation_p.K478E|AHCYL2_ENST00000490911.1_Missense_Mutation_p.K456E|AHCYL2_ENST00000446212.1_Missense_Mutation_p.K457E|AHCYL2_ENST00000474594.1_Missense_Mutation_p.K456E	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	559					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GGGTCGCTATAAGCAGGATGT	0.448																																					Pancreas(160;1736 1964 29875 40941 45605)	ENST00000325006.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(1675-1677)Aag>Gag		adenosylhomocysteinase-like 2							170.0	150.0	156.0					7																	129064949		2203	4300	6503	SO:0001583	missense	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:129064949A>G	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.1675A>G	7.37:g.129064949A>G	ENSP00000315931:p.Lys559Glu					AHCYL2_ENST00000446544.2_Missense_Mutation_p.K558E|AHCYL2_ENST00000490911.1_Missense_Mutation_p.K456E|AHCYL2_ENST00000446212.1_Missense_Mutation_p.K457E|AHCYL2_ENST00000474594.1_Missense_Mutation_p.K456E|AHCYL2_ENST00000531335.2_Missense_Mutation_p.K478E	p.K559E	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN			15	1729	+			559					B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	ENST00000325006.3	37	c.1675A>G	CCDS5812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.13|17.13	3.312123|3.312123	0.60414|0.60414	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911	.|T;T;T;T;T;T	.|0.75821	.|-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69052|0.69052	0.3068|0.3068	L|L	0.33189|0.33189	0.99|0.99	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P	.|0.44734	.|0.651;0.651;0.842;0.651;0.81	.|B;B;P;B;B	.|0.46543	.|0.382;0.382;0.52;0.382;0.386	T|T	0.66404|0.66404	-0.5932|-0.5932	5|10	.|0.23891	.|T	.|0.37	-17.8085|-17.8085	14.2386|14.2386	0.65943|0.65943	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|456;457;559;456;558	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	M|E	465|559;558;478;456;457;456	.|ENSP00000315931:K559E;ENSP00000413639:K558E;ENSP00000431787:K478E;ENSP00000420459:K456E;ENSP00000405267:K457E;ENSP00000420801:K456E	.|ENSP00000315931:K559E	I|K	+|+	3|1	3|0	AHCYL2|AHCYL2	128852185|128852185	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.313000|9.313000	0.96297|0.96297	2.047000|2.047000	0.60756|0.60756	0.528000|0.528000	0.53228|0.53228	ATA|AAG		0.448	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			29	81	0	0	0	1	0	29	81				
COL4A6	1288	broad.mit.edu	37	X	107449632	107449632	+	Intron	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:107449632T>C	ENST00000372216.4	-	9	713				COL4A6_ENST00000394872.2_Missense_Mutation_p.Q203R|COL4A6_ENST00000538570.1_Intron|COL4A6_ENST00000545689.1_Intron|COL4A6_ENST00000334504.7_Intron	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6						cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GAATGGAGGTTGCCCTTGCTC	0.433									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(607-609)cAa>cGa		collagen, type IV, alpha 6							70.0	63.0	65.0					X																	107449632		876	1991	2867	SO:0001627	intron_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107449632T>C	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.612+115A>G	X.37:g.107449632T>C						COL4A6_ENST00000545689.1_Intron|COL4A6_ENST00000372216.4_Intron|COL4A6_ENST00000334504.7_Intron|COL4A6_ENST00000538570.1_Intron	p.Q203R			Q14031	CO4A6_HUMAN			11	839	-			206			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.608A>G	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	T	6.751	0.507467	0.12883	.	.	ENSG00000197565	ENST00000394872	D	0.90385	-2.66	3.74	3.74	0.42951	.	.	.	.	.	D	0.87091	0.6091	.	.	.	0.22940	N	0.998539	.	.	.	.	.	.	T	0.77584	-0.2533	6	0.32370	T	0.25	.	7.9514	0.30017	0.0:0.0:0.0:1.0	.	.	.	.	R	203	ENSP00000378340:Q203R	ENSP00000378340:Q203R	Q	-	2	0	COL4A6	107336288	0.000000	0.05858	0.012000	0.15200	0.009000	0.06853	0.427000	0.21379	1.693000	0.51124	0.451000	0.29950	CAA		0.433	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			14	12	0	0	0	1	0	14	12				
MTM1	4534	broad.mit.edu	37	X	149839965	149839965	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:149839965G>A	ENST00000370396.2	+	15	1763	c.1709G>A	c.(1708-1710)cGg>cAg	p.R570Q	MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.R455Q|MTM1_ENST00000413012.2_Missense_Mutation_p.R533Q|MTM1_ENST00000306167.7_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	570					endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TACATAAAGCGGCTTGAGGAA	0.512																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1708-1710)cGg>cAg		myotubularin 1							115.0	91.0	99.0					X																	149839965		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149839965G>A	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1709G>A	X.37:g.149839965G>A	ENSP00000359423:p.Arg570Gln					MTM1_ENST00000413012.2_Missense_Mutation_p.R533Q|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.R455Q	p.R570Q	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			15	1763	+	Acute lymphoblastic leukemia(192;6.56e-05)		570					A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.1709G>A	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779776	0.31502	.	.	ENSG00000171100	ENST00000370396;ENST00000543350;ENST00000413012	D;D;D	0.95885	-3.84;-3.6;-3.8	4.85	4.85	0.62838	.	0.256644	0.36815	N	0.002389	D	0.91841	0.7418	L	0.35341	1.055	0.34040	D	0.654901	B;B	0.22480	0.07;0.07	B;B	0.15052	0.012;0.012	D	0.91403	0.5145	10	0.27785	T	0.31	.	17.4112	0.87486	0.0:0.0:1.0:0.0	.	533;570	B7Z491;Q13496	.;MTM1_HUMAN	Q	570;455;533	ENSP00000359423:R570Q;ENSP00000439784:R455Q;ENSP00000389157:R533Q	ENSP00000359423:R570Q	R	+	2	0	MTM1	149590623	1.000000	0.71417	0.723000	0.30687	0.292000	0.27327	4.614000	0.61183	2.123000	0.65237	0.600000	0.82982	CGG		0.512	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		37	19	0	0	0	1	0	37	19				
PRDM2	7799	broad.mit.edu	37	1	14105421	14105421	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:14105421T>C	ENST00000235372.7	+	8	1987	c.1131T>C	c.(1129-1131)cgT>cgC	p.R377R	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Silent_p.R176R|PRDM2_ENST00000343137.4_Silent_p.R176R|PRDM2_ENST00000311066.5_Silent_p.R377R|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GGCTTGAGCGTCACATGCATA	0.453																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(1129-1131)cgT>cgC		PR domain containing 2, with ZNF domain							119.0	112.0	114.0					1																	14105421		2203	4300	6503	SO:0001819	synonymous_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14105421T>C	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1131T>C	1.37:g.14105421T>C						PRDM2_ENST00000311066.5_Silent_p.R377R|PRDM2_ENST00000343137.4_Silent_p.R176R|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Silent_p.R176R	p.R377R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	1987	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	377					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	c.1131T>C	CCDS150.1																																																																																				0.453	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		5	102	0	0	0	1	0	5	102				
CROCC	9696	broad.mit.edu	37	1	17257070	17257070	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:17257070C>T	ENST00000375541.5	+	7	899	c.830C>T	c.(829-831)gCg>gTg	p.A277V	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CGGGAGGCGGCGTGGAGGCGC	0.662																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(829-831)gCg>gTg		ciliary rootlet coiled-coil, rootletin							20.0	18.0	19.0					1																	17257070		2190	4276	6466	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17257070C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.830C>T	1.37:g.17257070C>T	ENSP00000364691:p.Ala277Val					CROCC_ENST00000467938.1_3'UTR	p.A277V	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	7	899	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	277						Missense_Mutation	SNP	ENST00000375541.5	37	c.830C>T	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768595	0.31320	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.09630	2.96	5.21	3.12	0.35913	.	.	.	.	.	T	0.05777	0.0151	N	0.12182	0.205	0.21290	N	0.999737	B;B	0.15473	0.01;0.013	B;B	0.08055	0.003;0.003	T	0.36529	-0.9744	9	0.30854	T	0.27	.	6.0595	0.19830	0.3353:0.564:0.0:0.1007	.	140;277	A1L0S8;Q5TZA2	.;CROCC_HUMAN	V	277;158	ENSP00000364691:A277V	ENSP00000364691:A277V	A	+	2	0	CROCC	17129657	0.998000	0.40836	0.007000	0.13788	0.656000	0.38851	4.419000	0.59835	1.153000	0.42468	0.555000	0.69702	GCG		0.662	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		9	40	0	0	0	1	0	9	40				
AKAP4	8852	broad.mit.edu	37	X	49957582	49957582	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:49957582T>C	ENST00000376056.2	-	5	1905	c.1755A>G	c.(1753-1755)aaA>aaG	p.K585K	AKAP4_ENST00000358526.2_Silent_p.K594K|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.K585K|AKAP4_ENST00000376058.2_Silent_p.K211K					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTGAAAGTGCTTTGGCACTTT	0.468																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(1753-1755)aaA>aaG		A kinase (PRKA) anchor protein 4							110.0	89.0	96.0					X																	49957582		2203	4300	6503	SO:0001819	synonymous_variant	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957582T>C	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1755A>G	X.37:g.49957582T>C						AKAP4_ENST00000358526.2_Silent_p.K594K|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Silent_p.K211K|AKAP4_ENST00000376064.3_Silent_p.K585K	p.K585K			Q5JQC9	AKAP4_HUMAN			5	1905	-	Ovarian(276;0.236)		594						Silent	SNP	ENST00000376056.2	37	c.1755A>G	CCDS14330.1																																																																																				0.468	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		36	30	0	0	0	1	0	36	30				
LTA4H	4048	broad.mit.edu	37	12	96394781	96394781	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:96394781A>G	ENST00000228740.2	-	19	1963	c.1822T>C	c.(1822-1824)Tta>Cta	p.L608L	RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000552789.1_Silent_p.L584L|LTA4H_ENST00000413268.2_3'UTR	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	608					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	TCCACTTTTAAGTCTTTCCCC	0.388																																						ENST00000228740.2																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						c.(1822-1824)Tta>Cta		leukotriene A4 hydrolase							127.0	116.0	120.0					12																	96394781		2203	4300	6503	SO:0001819	synonymous_variant	4048				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr12:96394781A>G	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.1822T>C	12.37:g.96394781A>G						LTA4H_ENST00000413268.2_3'UTR|LTA4H_ENST00000552789.1_Silent_p.L584L|RP11-256L6.3_ENST00000551849.1_RNA	p.L608L	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN			19	1963	-			608					B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Silent	SNP	ENST00000228740.2	37	c.1822T>C	CCDS9059.1																																																																																				0.388	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		17	110	0	0	0	1	0	17	110				
CHD5	26038	broad.mit.edu	37	1	6173014	6173014	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:6173014G>C	ENST00000262450.3	-	34	5056	c.4957C>G	c.(4957-4959)Ctg>Gtg	p.L1653V	CHD5_ENST00000378021.1_Missense_Mutation_p.L510V	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATCAAGCTCAGCTCCAGCTTG	0.582																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(4957-4959)Ctg>Gtg		chromodomain helicase DNA binding protein 5							132.0	115.0	120.0					1																	6173014		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6173014G>C	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4957C>G	1.37:g.6173014G>C	ENSP00000262450:p.Leu1653Val					CHD5_ENST00000378021.1_Missense_Mutation_p.L510V	p.L1653V	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	34	5056	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1653					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.4957C>G	CCDS57.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.63|12.63	1.996402|1.996402	0.35226|0.35226	.|.	.|.	ENSG00000116254|ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999|ENST00000536802	D;T|.	0.90385|.	-2.66;2.29|.	4.49|4.49	3.32|3.32	0.38043|0.38043	.|.	0.807698|.	0.10570|.	N|.	0.659181|.	T|T	0.34513|0.34513	0.0900|0.0900	N|N	0.19112|0.19112	0.55|0.55	0.33222|0.33222	D|D	0.554814|0.554814	B;B|.	0.32918|.	0.02;0.39|.	B;B|.	0.24269|.	0.007;0.052|.	T|T	0.49513|0.49513	-0.8932|-0.8932	10|6	0.29301|0.87932	T|D	0.29|0	-10.4412|-10.4412	4.2828|4.2828	0.10841|0.10841	0.3351:0.0:0.6649:0.0|0.3351:0.0:0.6649:0.0	.|.	1653;510|.	Q8TDI0;Q5TG85|.	CHD5_HUMAN;.|.	V|R	1653;510;510|1095	ENSP00000262450:L1653V;ENSP00000367260:L510V|.	ENSP00000262450:L1653V|ENSP00000433676:S1225R	L|S	-|-	1|3	2|2	CHD5|CHD5	6095601|6095601	0.583000|0.583000	0.26757|0.26757	0.685000|0.685000	0.30070|0.30070	0.977000|0.977000	0.68977|0.68977	1.014000|1.014000	0.29950|0.29950	1.161000|1.161000	0.42604|0.42604	0.655000|0.655000	0.94253|0.94253	CTG|AGC		0.582	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		20	75	0	0	0	1	0	20	75				
OPLAH	26873	broad.mit.edu	37	8	145106259	145106259	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145106259A>G	ENST00000426825.1	-	28	3916	c.3835T>C	c.(3835-3837)Tat>Cat	p.Y1279H	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000561181.1_RNA|CTD-3065J16.6_ENST00000528912.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1279					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGATACTCATAGACGCTGCCG	0.692																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(3835-3837)Tat>Cat		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						20.0	23.0	22.0					8																	145106259		1878	4103	5981	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145106259A>G	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3835T>C	8.37:g.145106259A>G	ENSP00000475943:p.Tyr1279His					OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA	p.Y1279H	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		28	3916	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1279					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.3835T>C		.	.	.	.	.	.	.	.	.	.	a	9.536	1.112013	0.20795	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.58	4.58	0.56647	.	0.126220	0.52532	D	0.000065	T	0.25568	0.0622	N	0.14661	0.345	0.29400	N	0.861985	B	0.06786	0.001	B	0.08055	0.003	T	0.26849	-1.0091	8	0.15499	T	0.54	.	6.8883	0.24214	0.894:0.0:0.106:0.0	.	1279	O14841	OPLA_HUMAN	H	1279	.	ENSP00000412071:Y1279H	Y	-	1	0	OPLAH	145178247	0.842000	0.29525	0.605000	0.28930	0.122000	0.20287	3.995000	0.57001	1.704000	0.51252	0.392000	0.25879	TAT		0.692	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		21	78	0	0	0	1	0	21	78				
IQSEC1	9922	broad.mit.edu	37	3	12977561	12977561	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:12977561G>A	ENST00000273221.4	-	3	1213	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W	IQSEC1_ENST00000473088.1_5'Flank	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	333					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCCGTAGCCGCAGGTCCGAC	0.682																																						ENST00000273221.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(997-999)Cgg>Tgg		IQ motif and Sec7 domain 1							25.0	30.0	28.0					3																	12977561		2156	4202	6358	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12977561G>A	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.997C>T	3.37:g.12977561G>A	ENSP00000273221:p.Arg333Trp						p.R333W	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN			3	1213	-			333					O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.997C>T	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.71|11.71	1.719674|1.719674	0.30503|0.30503	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|T;T	.|0.46063	.|0.88;0.88	4.86|4.86	-1.15|-1.15	0.09709|0.09709	.|.	.|0.061447	.|0.64402	.|D	.|0.000006	T|T	0.46210|0.46210	0.1381|0.1381	.|.	.|.	.|.	0.45035|0.45035	D|D	0.998056|0.998056	.|D;D;D	.|0.76494	.|0.999;0.998;0.992	.|P;P;P	.|0.53360	.|0.724;0.551;0.53	T|T	0.46105|0.46105	-0.9215|-0.9215	4|9	.|0.44086	.|T	.|0.13	.|.	10.6247|10.6247	0.45500|0.45500	0.0:0.0936:0.3573:0.5491|0.0:0.0936:0.3573:0.5491	.|.	.|319;319;333	.|E9PG60;C9JMG9;Q6DN90	.|.;.;IQEC1_HUMAN	V|W	333|333;319;319	.|ENSP00000273221:R333W;ENSP00000402299:R319W	.|ENSP00000273221:R333W	A|R	-|-	2|1	0|2	IQSEC1|IQSEC1	12952561|12952561	0.983000|0.983000	0.35010|0.35010	0.941000|0.941000	0.38009|0.38009	0.010000|0.010000	0.07245|0.07245	0.190000|0.190000	0.17057|0.17057	-0.042000|-0.042000	0.13535|0.13535	-0.175000|-0.175000	0.13238|0.13238	GCG|CGG		0.682	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		28	73	0	0	0	1	0	28	73				
IL9R	3581	broad.mit.edu	37	X	155233458	155233458	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:155233458A>G	ENST00000244174.5	+	4	550	c.371A>G	c.(370-372)cAc>cGc	p.H124R	IL9R_ENST00000540897.1_Missense_Mutation_p.T159A|IL9R_ENST00000424344.3_Missense_Mutation_p.H103R|IL9R_ENST00000369423.2_Missense_Mutation_p.T169A	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	124					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACTTTCCACCACTGCATGTCT	0.622																																						ENST00000424344.3																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23						c.(307-309)cAc>cGc		interleukin 9 receptor							122.0	111.0	115.0					X																	155233458		2203	4296	6499	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155233458A>G	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.371A>G	X.37:g.155233458A>G	ENSP00000244174:p.His124Arg					IL9R_ENST00000540897.1_Missense_Mutation_p.T159A|IL9R_ENST00000369423.2_Missense_Mutation_p.T169A|IL9R_ENST00000244174.5_Missense_Mutation_p.H124R	p.H103R			Q01113	IL9R_HUMAN			5	675	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		124					B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.308A>G	CCDS14771.4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	6.100|6.100	0.386689|0.386689	0.11524|0.11524	.|.	.|.	ENSG00000124334|ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739|ENST00000369423;ENST00000540897	T;T|T;T	0.28895|0.29655	1.59;1.59|1.56;1.56	1.29|1.29	-1.95|-1.95	0.07548|0.07548	.|.	1.805090|.	0.02464|.	N|.	0.086837|.	T|T	0.10981|0.10981	0.0268|0.0268	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|B	0.02656|0.28801	0.0;0.0|0.223	B;B|B	0.04013|0.23419	0.0;0.001|0.046	T|T	0.32107|0.32107	-0.9919|-0.9919	9|8	0.02654|0.08837	T|T	1|0.75	-21.8528|-21.8528	4.4563|4.4563	0.11645|0.11645	0.5387:0.0:0.4613:0.0|0.5387:0.0:0.4613:0.0	.|.	103;124|169	F5H3Z0;Q01113|B9ZVT0	.;IL9R_HUMAN|.	R|A	124;103;103|169;159	ENSP00000244174:H124R;ENSP00000388918:H103R|ENSP00000358431:T169A;ENSP00000438112:T159A	ENSP00000244174:H124R|ENSP00000358431:T169A	H|T	+|+	2|1	0|0	IL9R|IL9R	154886652|154886652	0.004000|0.004000	0.15560|0.15560	0.013000|0.013000	0.15412|0.15412	0.525000|0.525000	0.34531|0.34531	-0.029000|-0.029000	0.12329|0.12329	-0.662000|-0.662000	0.05338|0.05338	-0.812000|-0.812000	0.03155|0.03155	CAC|ACT		0.622	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		15	56	0	0	0	1	0	15	56				
MUC5B	727897	broad.mit.edu	37	11	1268602	1268602	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1268602A>G	ENST00000529681.1	+	31	10550	c.10492A>G	c.(10492-10494)Acc>Gcc	p.T3498A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T3501A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3498	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCAGCAGCAACCACCAGTAC	0.662																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10501-10503)Acc>Gcc		mucin 5B, oligomeric mucus/gel-forming							92.0	112.0	105.0					11																	1268602		2097	4199	6296	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268602A>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10492A>G	11.37:g.1268602A>G	ENSP00000436812:p.Thr3498Ala					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T3498A	p.T3501A			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10559	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3498	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.10501A>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	a	1.650	-0.514336	0.04200	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.26810	1.71;1.92	1.23	-0.255	0.12988	.	.	.	.	.	T	0.17534	0.0421	N	0.19112	0.55	0.09310	N	1	B;B	0.31893	0.345;0.023	B;B	0.37550	0.253;0.002	T	0.31475	-0.9942	9	0.87932	D	0	.	6.8241	0.23872	0.5266:0.4733:0.0:0.0	.	4026;3501	A7Y9J9;E9PBJ0	.;.	A	3498;3501;3470;3403	ENSP00000436812:T3498A;ENSP00000415793:T3501A	ENSP00000343037:T3470A	T	+	1	0	MUC5B	1225178	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.904000	0.00702	-0.288000	0.09051	-1.112000	0.02068	ACC		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	266	0	0	0	1	0	4	266				
AOX1	316	broad.mit.edu	37	2	201534320	201534320	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:201534320T>A	ENST00000374700.2	+	34	4062	c.3821T>A	c.(3820-3822)tTc>tAc	p.F1274Y	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1274					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCGGGGGTGTTCCTGGGGTGT	0.498																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(3820-3822)tTc>tAc		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						207.0	209.0	208.0					2																	201534320		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201534320T>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3821T>A	2.37:g.201534320T>A	ENSP00000363832:p.Phe1274Tyr					AOX1_ENST00000485106.1_3'UTR	p.F1274Y	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			34	4062	+			1274					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.3821T>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.045853	0.93685	.	.	ENSG00000138356	ENST00000374700;ENST00000260930;ENST00000439380	T;T;T	0.70282	-0.47;-0.47;-0.47	5.41	5.41	0.78517	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	0.106561	0.64402	D	0.000004	D	0.88381	0.6421	H	0.96239	3.79	0.80722	D	1	D	0.64830	0.994	D	0.66847	0.947	D	0.91853	0.5493	10	0.87932	D	0	-52.2283	14.5617	0.68144	0.0:0.0:0.0:1.0	.	1274	Q06278	ADO_HUMAN	Y	1274;138;114	ENSP00000363832:F1274Y;ENSP00000260930:F138Y;ENSP00000413326:F114Y	ENSP00000260930:F138Y	F	+	2	0	AOX1	201242565	1.000000	0.71417	0.994000	0.49952	0.862000	0.49288	7.560000	0.82277	2.269000	0.75478	0.455000	0.32223	TTC		0.498	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		88	266	0	0	0	1	0	88	266				
CHUK	1147	broad.mit.edu	37	10	101969541	101969541	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:101969541T>C	ENST00000370397.7	-	10	1025	c.939A>G	c.(937-939)gtA>gtG	p.V313V		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	313					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TTAGGATGTGTACTATCTGTA	0.328																																					Ovarian(159;52 1904 10536 35305 37148)	ENST00000370397.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27						c.(937-939)gtA>gtG		conserved helix-loop-helix ubiquitous kinase							41.0	44.0	43.0					10																	101969541		2202	4299	6501	SO:0001819	synonymous_variant	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101969541T>C	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.939A>G	10.37:g.101969541T>C							p.V313V	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	10	1025	-		Colorectal(252;0.117)	313					O14666|Q13132|Q5W0I4|Q92467	Silent	SNP	ENST00000370397.7	37	c.939A>G	CCDS7488.1																																																																																				0.328	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		7	24	0	0	0	1	0	7	24				
HEATR5B	54497	broad.mit.edu	37	2	37267572	37267572	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:37267572A>G	ENST00000233099.5	-	20	3041	c.2946T>C	c.(2944-2946)ctT>ctC	p.L982L	HEATR5B_ENST00000354531.2_Silent_p.L982L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	982						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACAGCAAGGTAAGAACTAGAG	0.423																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(2944-2946)ctT>ctC		HEAT repeat containing 5B							168.0	140.0	149.0					2																	37267572		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37267572A>G	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2946T>C	2.37:g.37267572A>G						HEATR5B_ENST00000354531.2_Silent_p.L982L	p.L982L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			20	3041	-		all_hematologic(82;0.21)	982					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.2946T>C	CCDS33181.1																																																																																				0.423	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		25	87	0	0	0	1	0	25	87				
ZBTB20	26137	broad.mit.edu	37	3	114070150	114070150	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:114070150G>A	ENST00000474710.1	-	4	953	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	ZBTB20_ENST00000481632.1_Missense_Mutation_p.R186C|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R186C|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R186C|ZBTB20_ENST00000462705.1_Missense_Mutation_p.R186C|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R186C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R186C	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	259						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TAAAAAGAGCGCTCGCCGCTG	0.642																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(556-558)Cgc>Tgc		zinc finger and BTB domain containing 20							55.0	53.0	53.0					3																	114070150		2203	4299	6502	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070150G>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.775C>T	3.37:g.114070150G>A	ENSP00000419153:p.Arg259Cys					ZBTB20_ENST00000357258.3_Missense_Mutation_p.R186C|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R186C|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R186C|ZBTB20_ENST00000474710.1_Missense_Mutation_p.R259C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R186C|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R186C	p.R186C	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	1377	-			259					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.556C>T	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076110	0.76415	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.11495	2.81;2.81;2.81;2.81;2.77;2.81;2.81	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.23727	0.0574	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.00912	-1.1517	10	0.87932	D	0	.	19.6361	0.95733	0.0:0.0:1.0:0.0	.	259	Q9HC78	ZBT20_HUMAN	C	186;186;186;186;259;186;186	ENSP00000420324:R186C;ENSP00000377375:R186C;ENSP00000418092:R186C;ENSP00000419902:R186C;ENSP00000419153:R259C;ENSP00000349803:R186C;ENSP00000417307:R186C	ENSP00000349803:R186C	R	-	1	0	ZBTB20	115552840	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.263000	0.95617	2.878000	0.98634	0.650000	0.86243	CGC		0.642	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		4	101	0	0	0	1	0	4	101				
DCAF5	8816	broad.mit.edu	37	14	69520911	69520911	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:69520911T>C	ENST00000341516.5	-	9	2639	c.2492A>G	c.(2491-2493)aAc>aGc	p.N831S	DCAF5_ENST00000556847.1_Missense_Mutation_p.N749S|DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000554215.1_Missense_Mutation_p.N749S|DCAF5_ENST00000557386.1_Missense_Mutation_p.N830S	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	831					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						ATTGTTGTGGTTGGCACAGAT	0.592																																						ENST00000341516.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						c.(2491-2493)aAc>aGc		DDB1 and CUL4 associated factor 5							159.0	148.0	151.0					14																	69520911		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69520911T>C	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2492A>G	14.37:g.69520911T>C	ENSP00000341351:p.Asn831Ser					DCAF5_ENST00000554215.1_Missense_Mutation_p.N749S|DCAF5_ENST00000556847.1_Missense_Mutation_p.N749S|DCAF5_ENST00000557386.1_Missense_Mutation_p.N830S	p.N831S	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN			9	2639	-			831					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.2492A>G	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.566053	0.45694	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.72167	-0.63;-0.46;-0.46;-0.07	4.82	4.82	0.62117	.	0.138816	0.49305	D	0.000153	T	0.65091	0.2658	L	0.27053	0.805	0.80722	D	1	D;P	0.54207	0.965;0.941	P;B	0.47705	0.555;0.352	T	0.70557	-0.4839	10	0.66056	D	0.02	-23.9641	14.5617	0.68144	0.0:0.0:0.0:1.0	.	830;831	G3V4J7;Q96JK2	.;DCAF5_HUMAN	S	831;749;749;830	ENSP00000341351:N831S;ENSP00000451551:N749S;ENSP00000452052:N749S;ENSP00000451845:N830S	ENSP00000341351:N831S	N	-	2	0	DCAF5	68590664	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.747000	0.55134	2.022000	0.59522	0.459000	0.35465	AAC		0.592	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		14	57	0	0	0	1	0	14	57				
ST8SIA3	51046	broad.mit.edu	37	18	55024150	55024150	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:55024150A>G	ENST00000324000.3	+	3	2343	c.309A>G	c.(307-309)gaA>gaG	p.E103E		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	103					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TTAGGCAAGAAATTCTTCAGC	0.323																																						ENST00000324000.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36						c.(307-309)gaA>gaG		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3							36.0	40.0	39.0					18																	55024150		2202	4300	6502	SO:0001819	synonymous_variant	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55024150A>G	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.309A>G	18.37:g.55024150A>G							p.E103E	NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	3	2343	+			103					A8K0F2|Q6B085|Q9NS41	Silent	SNP	ENST00000324000.3	37	c.309A>G	CCDS32834.1																																																																																				0.323	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		3	27	0	0	0	1	0	3	27				
LRRC4	64101	broad.mit.edu	37	7	127669070	127669070	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:127669070C>T	ENST00000249363.3	-	2	1881	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	542					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		ATCAACATGGCGGCAGCTAGC	0.517																																						ENST00000249363.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26						c.(1624-1626)Gcc>Acc		leucine rich repeat containing 4							69.0	64.0	66.0					7																	127669070		2203	4300	6503	SO:0001583	missense	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127669070C>T	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.1624G>A	7.37:g.127669070C>T	ENSP00000249363:p.Ala542Thr					SND1_ENST00000354725.3_Intron	p.A542T	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	1881	-			542					A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	c.1624G>A	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097678	0.37048	.	.	ENSG00000128594	ENST00000249363	T	0.35421	1.31	4.65	3.75	0.43078	.	0.170663	0.38663	N	0.001615	T	0.26448	0.0646	L	0.36672	1.1	0.42385	D	0.9925	P	0.38195	0.622	B	0.32393	0.145	T	0.11591	-1.0581	10	0.66056	D	0.02	.	11.7298	0.51730	0.1775:0.8225:0.0:0.0	.	542	Q9HBW1	LRRC4_HUMAN	T	542	ENSP00000249363:A542T	ENSP00000249363:A542T	A	-	1	0	LRRC4	127456306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.880000	0.69698	1.138000	0.42230	0.561000	0.74099	GCC		0.517	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		9	20	0	0	0	1	0	9	20				
MLXIP	22877	broad.mit.edu	37	12	122612505	122612505	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:122612505G>A	ENST00000319080.7	+	3	728	c.596G>A	c.(595-597)cGc>cAc	p.R199H						MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GACGAGCACCGCCGGCCGGAG	0.607																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(595-597)cGc>cAc		MLX interacting protein							92.0	100.0	97.0					12																	122612505		2022	4173	6195	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122612505G>A	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.596G>A	12.37:g.122612505G>A	ENSP00000312834:p.Arg199His						p.R199H			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	3	728	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	199			Required for cytoplasmic localization.			Missense_Mutation	SNP	ENST00000319080.7	37	c.596G>A		.	.	.	.	.	.	.	.	.	.	G	25.3	4.627403	0.87560	.	.	ENSG00000175727	ENST00000319080	T	0.29397	1.57	5.23	5.23	0.72850	.	0.058059	0.64402	D	0.000001	T	0.59046	0.2165	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.63180	-0.6695	9	0.72032	D	0.01	-25.0725	19.1599	0.93526	0.0:0.0:1.0:0.0	.	199	Q9HAP2	MLXIP_HUMAN	H	199	ENSP00000312834:R199H	ENSP00000312834:R199H	R	+	2	0	MLXIP	121178459	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.164000	0.71885	2.590000	0.87494	0.655000	0.94253	CGC		0.607	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		7	239	0	0	0	1	0	7	239				
ALPK3	57538	broad.mit.edu	37	15	85401778	85401778	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:85401778T>C	ENST00000258888.5	+	6	4582	c.4415T>C	c.(4414-4416)cTg>cCg	p.L1472P		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1472					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCAAAGACCTGCTGAAAGGT	0.617																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(4414-4416)cTg>cCg		alpha-kinase 3							34.0	43.0	40.0					15																	85401778		2158	4154	6312	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85401778T>C	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4415T>C	15.37:g.85401778T>C	ENSP00000258888:p.Leu1472Pro						p.L1472P	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	4582	+			1472					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.4415T>C	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	T	9.486	1.099427	0.20552	.	.	ENSG00000136383	ENST00000258888	T	0.60171	0.21	5.82	1.93	0.25924	.	1.050490	0.07535	N	0.912854	T	0.47060	0.1425	L	0.46741	1.465	0.46901	D	0.999247	B	0.22480	0.07	B	0.20384	0.029	T	0.45160	-0.9280	10	0.46703	T	0.11	-5.6837	2.816	0.05456	0.203:0.2393:0.0:0.5577	.	1472	Q96L96	ALPK3_HUMAN	P	1472	ENSP00000258888:L1472P	ENSP00000258888:L1472P	L	+	2	0	ALPK3	83202782	0.989000	0.36119	0.117000	0.21633	0.963000	0.63663	1.772000	0.38552	0.339000	0.23719	0.533000	0.62120	CTG		0.617	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		5	18	0	0	0	1	0	5	18				
BTBD3	22903	broad.mit.edu	37	20	11903761	11903761	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:11903761T>C	ENST00000405977.1	+	5	1641	c.1016T>C	c.(1015-1017)gTa>gCa	p.V339A	BTBD3_ENST00000378226.2_Missense_Mutation_p.V339A|BTBD3_ENST00000254977.3_Missense_Mutation_p.V278A|BTBD3_ENST00000399006.2_Missense_Mutation_p.V278A	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	339					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CAGTCCGGGGTATTAACTCTC	0.473																																						ENST00000405977.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						c.(1015-1017)gTa>gCa		BTB (POZ) domain containing 3							108.0	109.0	108.0					20																	11903761		2203	4300	6503	SO:0001583	missense	22903							g.chr20:11903761T>C	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.1016T>C	20.37:g.11903761T>C	ENSP00000384545:p.Val339Ala					BTBD3_ENST00000378226.2_Missense_Mutation_p.V339A|BTBD3_ENST00000399006.2_Missense_Mutation_p.V278A|BTBD3_ENST00000254977.3_Missense_Mutation_p.V278A	p.V339A			Q9Y2F9	BTBD3_HUMAN			5	1641	+			339					D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	c.1016T>C	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.378329	0.61735	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000378226	T;T;T;T	0.79352	-1.23;-1.23;-1.26;-1.26	6.16	6.16	0.99307	.	0.051383	0.85682	D	0.000000	T	0.78246	0.4253	M	0.72894	2.215	0.80722	D	1	P	0.36412	0.552	B	0.35607	0.206	T	0.80353	-0.1418	10	0.87932	D	0	.	15.9872	0.80168	0.0:0.0:0.0:1.0	.	339	Q9Y2F9	BTBD3_HUMAN	A	278;278;339;339	ENSP00000254977:V278A;ENSP00000381971:V278A;ENSP00000384545:V339A;ENSP00000367471:V339A	ENSP00000254977:V278A	V	+	2	0	BTBD3	11851761	1.000000	0.71417	0.971000	0.41717	0.965000	0.64279	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	GTA		0.473	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			6	151	0	0	0	1	0	6	151				
SLC22A3	6581	broad.mit.edu	37	6	160858095	160858095	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:160858095T>C	ENST00000275300.2	+	7	1292	c.1140T>C	c.(1138-1140)taT>taC	p.Y380Y	SLC22A3_ENST00000392145.1_Silent_p.Y380Y	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	380					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	GCAACCTCTATATAGACTTTT	0.507																																						ENST00000392145.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1138-1140)taT>taC		solute carrier family 22 (organic cation transporter), member 3							127.0	137.0	134.0					6																	160858095		2203	4300	6503	SO:0001819	synonymous_variant	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160858095T>C	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1140T>C	6.37:g.160858095T>C						SLC22A3_ENST00000275300.2_Silent_p.Y380Y	p.Y380Y			O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	7	1167	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	380					Q5SYN6|Q9UP02	Silent	SNP	ENST00000275300.2	37	c.1140T>C	CCDS5277.1																																																																																				0.507	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		10	199	0	0	0	1	0	10	199				
DOLPP1	57171	broad.mit.edu	37	9	131846992	131846992	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:131846992T>G	ENST00000372546.4	+	2	154	c.122T>G	c.(121-123)gTa>gGa	p.V41G	DOLPP1_ENST00000540102.1_5'UTR|DOLPP1_ENST00000406974.3_Missense_Mutation_p.V41G	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	41					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|lipid biosynthetic process (GO:0008610)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichyldiphosphatase activity (GO:0047874)			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						CTCAGCCCTGTATTTGTCATC	0.577																																						ENST00000372546.4																			0				endometrium(3)|kidney(2)|lung(7)|skin(1)	13						c.(121-123)gTa>gGa		dolichyldiphosphatase 1							450.0	407.0	422.0					9																	131846992		2203	4300	6503	SO:0001583	missense	57171				dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity	g.chr9:131846992T>G	BC009493	CCDS6918.1, CCDS48039.1	9q34.1	2013-05-21	2013-05-21		ENSG00000167130	ENSG00000167130	3.6.1.43		29565	protein-coding gene	gene with protein product	"""linked to Surfeit genes in Fugu rubripes 2"""	614516	"""dolichyl pyrophosphate phosphatase 1"""			10369878, 12198133	Standard	NM_020438		Approved	LSFR2	uc004bxc.3	Q86YN1	OTTHUMG00000020771	ENST00000372546.4:c.122T>G	9.37:g.131846992T>G	ENSP00000361625:p.Val41Gly					DOLPP1_ENST00000540102.1_5'UTR|DOLPP1_ENST00000406974.3_Missense_Mutation_p.V41G	p.V41G	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN			2	154	+			41					A8K3U8|B0QZG4|Q96GF8|Q9Y3G1	Missense_Mutation	SNP	ENST00000372546.4	37	c.122T>G	CCDS6918.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.858180	0.71834	.	.	ENSG00000167130	ENST00000372546;ENST00000406974	T;T	0.76709	-1.04;-1.04	5.29	5.29	0.74685	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.276491	0.39274	N	0.001403	T	0.77968	0.4210	M	0.66297	2.02	0.80722	D	1	B;B	0.23058	0.079;0.079	B;B	0.29785	0.107;0.058	T	0.77216	-0.2669	10	0.72032	D	0.01	-8.6344	14.056	0.64769	0.0:0.0:0.0:1.0	.	41;41	B0QZG4;Q86YN1	.;DOPP1_HUMAN	G	41	ENSP00000361625:V41G;ENSP00000384043:V41G	ENSP00000361625:V41G	V	+	2	0	DOLPP1	130886813	0.996000	0.38824	0.191000	0.23289	0.977000	0.68977	7.235000	0.78143	2.008000	0.58898	0.459000	0.35465	GTA		0.577	DOLPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054548.4	NM_020438		7	630	0	0	0	1	0	7	630				
CD226	10666	broad.mit.edu	37	18	67562997	67562997	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:67562997A>G	ENST00000280200.4	-	4	935	c.667T>C	c.(667-669)Tac>Cac	p.Y223H	CD226_ENST00000581982.1_Missense_Mutation_p.Y68H|CD226_ENST00000582621.1_Missense_Mutation_p.Y223H|CD226_ENST00000577287.1_Missense_Mutation_p.Y68H	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	223	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GCCTGCAAGTAGCAGCGGTAA	0.527																																					NSCLC(184;838 2130 8673 21498 50749)	ENST00000280200.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24						c.(667-669)Tac>Cac		CD226 molecule							136.0	134.0	135.0					18																	67562997		2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67562997A>G	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.667T>C	18.37:g.67562997A>G	ENSP00000280200:p.Tyr223His					CD226_ENST00000577287.1_Missense_Mutation_p.Y68H|CD226_ENST00000582621.1_Missense_Mutation_p.Y223H|CD226_ENST00000581982.1_Missense_Mutation_p.Y68H	p.Y223H	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN			4	935	-		Esophageal squamous(42;0.129)	223			Ig-like C2-type 2.		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.667T>C	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	G	6.902	0.535986	0.13188	.	.	ENSG00000150637	ENST00000280200	T	0.13089	2.62	4.82	-6.93	0.01638	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.433370	0.03787	N	0.262301	T	0.04679	0.0127	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32719	-0.9896	10	0.15066	T	0.55	.	0.8068	0.01085	0.2653:0.1161:0.3026:0.316	.	223	Q15762	CD226_HUMAN	H	223	ENSP00000280200:Y223H	ENSP00000280200:Y223H	Y	-	1	0	CD226	65713977	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-2.513000	0.00957	-1.901000	0.01096	-1.110000	0.02074	TAC		0.527	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		50	188	0	0	0	1	0	50	188				
SPDEF	25803	broad.mit.edu	37	6	34506121	34506121	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:34506121T>C	ENST00000374037.3	-	6	1352	c.938A>G	c.(937-939)tAc>tGc	p.Y313C	SPDEF_ENST00000544425.1_Missense_Mutation_p.Y297C	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	313					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						GCCCTTCTTGTAATACTGGCG	0.612																																						ENST00000374037.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						c.(937-939)tAc>tGc		SAM pointed domain containing ETS transcription factor							194.0	179.0	184.0					6																	34506121		2203	4300	6503	SO:0001583	missense	25803				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:34506121T>C	AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.938A>G	6.37:g.34506121T>C	ENSP00000363149:p.Tyr313Cys					SPDEF_ENST00000544425.1_Missense_Mutation_p.Y297C	p.Y313C	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN			6	1352	-			313					B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	37	c.938A>G	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.836661	0.91117	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.18960	2.18;2.18	5.55	5.55	0.83447	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.000000	0.85682	D	0.000000	T	0.44052	0.1275	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.53351	-0.8451	10	0.87932	D	0	.	15.6884	0.77430	0.0:0.0:0.0:1.0	.	297;313	F5H778;O95238	.;SPDEF_HUMAN	C	313;297	ENSP00000363149:Y313C;ENSP00000442715:Y297C	ENSP00000363149:Y313C	Y	-	2	0	SPDEF	34614099	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.027000	0.88791	2.108000	0.64289	0.533000	0.62120	TAC		0.612	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		46	156	0	0	0	1	0	46	156				
SLC22A15	55356	broad.mit.edu	37	1	116607106	116607106	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:116607106A>T	ENST00000369503.4	+	10	1472	c.1342A>T	c.(1342-1344)Att>Ttt	p.I448F		NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	448					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGGTGGGATTATTGCTCCCTT	0.398																																						ENST00000369503.4																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(1342-1344)Att>Ttt		solute carrier family 22, member 15							214.0	191.0	198.0					1																	116607106		1865	4107	5972	SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116607106A>T	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.1342A>T	1.37:g.116607106A>T	ENSP00000358515:p.Ile448Phe						p.I448F	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	10	1472	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	448					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	c.1342A>T	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754905	0.49362	.	.	ENSG00000163393	ENST00000369503	T	0.77358	-1.09	4.93	2.53	0.30540	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.316437	0.36200	N	0.002721	T	0.68100	0.2964	L	0.60067	1.865	0.80722	D	1	P	0.36753	0.568	B	0.43575	0.424	T	0.70270	-0.4918	10	0.87932	D	0	.	11.9215	0.52795	0.7295:0.2705:0.0:0.0	.	448	Q8IZD6	S22AF_HUMAN	F	448	ENSP00000358515:I448F	ENSP00000358515:I448F	I	+	1	0	SLC22A15	116408629	0.960000	0.32886	0.851000	0.33527	0.994000	0.84299	1.748000	0.38308	0.333000	0.23563	0.459000	0.35465	ATT		0.398	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		12	29	0	0	0	1	0	12	29				
ADAD1	132612	broad.mit.edu	37	4	123314804	123314804	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:123314804T>C	ENST00000296513.2	+	6	775	c.590T>C	c.(589-591)gTa>gCa	p.V197A	ADAD1_ENST00000388724.2_Missense_Mutation_p.V197A|ADAD1_ENST00000388725.2_Missense_Mutation_p.V179A|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	197					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTTTCAAAAGTACATTATGGT	0.318																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(589-591)gTa>gCa		adenosine deaminase domain containing 1 (testis-specific)							108.0	112.0	111.0					4																	123314804		2203	4298	6501	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123314804T>C	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.590T>C	4.37:g.123314804T>C	ENSP00000296513:p.Val197Ala					ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Missense_Mutation_p.V179A|ADAD1_ENST00000388724.2_Missense_Mutation_p.V197A	p.V197A	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			6	775	+			197					A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.590T>C	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.208164	0.39003	.	.	ENSG00000164113	ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.30714	1.53;1.52;1.53	5.96	4.79	0.61399	.	0.528747	0.20811	N	0.085256	T	0.19967	0.0480	L	0.40543	1.245	0.25235	N	0.989798	B;B	0.14438	0.01;0.008	B;B	0.11329	0.006;0.004	T	0.26538	-1.0100	10	0.08381	T	0.77	-14.9956	6.6811	0.23121	0.0:0.1647:0.0:0.8353	.	197;197	Q96M93-2;Q96M93	.;ADAD1_HUMAN	A	197;197;197;179	ENSP00000296513:V197A;ENSP00000373376:V197A;ENSP00000373377:V179A	ENSP00000296513:V197A	V	+	2	0	ADAD1	123534254	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	1.352000	0.34033	2.285000	0.76669	0.482000	0.46254	GTA		0.318	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		8	44	0	0	0	1	0	8	44				
CCDC151	115948	broad.mit.edu	37	19	11541547	11541547	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:11541547T>C	ENST00000356392.4	-	3	503	c.416A>G	c.(415-417)aAg>aGg	p.K139R	CCDC151_ENST00000586836.1_5'UTR|CCDC151_ENST00000545100.1_Missense_Mutation_p.K85R|CCDC151_ENST00000591179.1_Intron	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	139										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CAGGTATGGCTTCTCCCACTT	0.577																																						ENST00000356392.4																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						c.(415-417)aAg>aGg		coiled-coil domain containing 151							151.0	173.0	166.0					19																	11541547		2085	4202	6287	SO:0001583	missense	115948							g.chr19:11541547T>C		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.416A>G	19.37:g.11541547T>C	ENSP00000348757:p.Lys139Arg					CCDC151_ENST00000586836.1_5'UTR|CCDC151_ENST00000545100.1_Missense_Mutation_p.K85R|CCDC151_ENST00000591179.1_Intron	p.K139R	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN			3	503	-			139					B4DXT0|Q96CG5	Missense_Mutation	SNP	ENST00000356392.4	37	c.416A>G	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.647093	0.47258	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	D;D	0.84442	-1.85;-1.85	4.05	2.97	0.34412	.	0.174352	0.48767	D	0.000162	D	0.85031	0.5604	L	0.46741	1.465	0.31306	N	0.687729	D;D	0.59767	0.986;0.986	P;P	0.60886	0.88;0.84	T	0.80160	-0.1498	10	0.15066	T	0.55	-16.5946	8.6712	0.34152	0.0:0.0:0.1935:0.8065	.	139;119	A5D8V7;B4DG09	CC151_HUMAN;.	R	85;139;118	ENSP00000442987:K85R;ENSP00000348757:K139R	ENSP00000348757:K139R	K	-	2	0	CCDC151	11402547	0.993000	0.37304	0.951000	0.38953	0.542000	0.35054	1.070000	0.30653	0.662000	0.31006	0.402000	0.26972	AAG		0.577	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		48	134	0	0	0	1	0	48	134				
ADAM30	11085	broad.mit.edu	37	1	120437837	120437837	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:120437837A>G	ENST00000369400.1	-	1	1281	c.1123T>C	c.(1123-1125)Tat>Cat	p.Y375H		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	375	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AAAGAGATATAACTGCAATTG	0.398																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(1123-1125)Tat>Cat		ADAM metallopeptidase domain 30							125.0	124.0	124.0					1																	120437837		2203	4300	6503	SO:0001583	missense	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120437837A>G	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1123T>C	1.37:g.120437837A>G	ENSP00000358407:p.Tyr375His						p.Y375H	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	1281	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	375			Peptidase M12B.		A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	ENST00000369400.1	37	c.1123T>C	CCDS907.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.665927	0.47677	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.10192	2.9	4.88	3.73	0.42828	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.348462	0.20275	N	0.095590	T	0.14570	0.0352	M	0.84082	2.675	0.09310	N	1	P	0.51351	0.944	P	0.56865	0.808	T	0.07888	-1.0749	10	0.62326	D	0.03	.	7.723	0.28744	0.8136:0.0:0.0:0.1864	.	375	Q9UKF2	ADA30_HUMAN	H	375	ENSP00000358407:Y375H	ENSP00000358407:Y375H	Y	-	1	0	ADAM30	120239360	0.000000	0.05858	0.265000	0.24526	0.010000	0.07245	0.009000	0.13219	0.862000	0.35528	0.460000	0.39030	TAT		0.398	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		48	147	0	0	0	1	0	48	147				
OR8S1	341568	broad.mit.edu	37	12	48921859	48921859	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:48921859G>A	ENST00000310194.1	+	2	1053	c.1053G>A	c.(1051-1053)ctG>ctA	p.L351L	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	351						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(1)|large_intestine(4)|lung(11)|skin(4)	22						GCTCCGCGCTGCGCGCGGCGC	0.662																																						ENST00000310194.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						c.(1051-1053)ctG>ctA		olfactory receptor, family 8, subfamily S, member 1							9.0	11.0	10.0					12																	48921859		2178	4264	6442	SO:0001819	synonymous_variant	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48921859G>A		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.1053G>A	12.37:g.48921859G>A						OR8S1_ENST00000551654.1_3'UTR	p.L351L	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN			2	1053	+			351						Silent	SNP	ENST00000310194.1	37	c.1053G>A	CCDS31789.1																																																																																				0.662	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			4	26	0	0	0	1	0	4	26				
IKBKAP	8518	broad.mit.edu	37	9	111679848	111679848	+	Silent	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:111679848G>T	ENST00000374647.5	-	9	1150	c.843C>A	c.(841-843)ccC>ccA	p.P281P	IKBKAP_ENST00000537196.1_5'UTR	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	281					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTTTAAGGAAGGGAAGTGTAA	0.378																																						ENST00000374647.5																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(841-843)ccC>ccA		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein							132.0	134.0	133.0					9																	111679848		2203	4300	6503	SO:0001819	synonymous_variant	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111679848G>T	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.843C>A	9.37:g.111679848G>T						IKBKAP_ENST00000537196.1_5'UTR	p.P281P	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN			9	1150	-			281					Q5JSV2|Q9H327|Q9UG87	Silent	SNP	ENST00000374647.5	37	c.843C>A	CCDS6773.1																																																																																				0.378	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			27	86	1	0	6.36457e-07	1	6.52959e-07	27	86				
TMEM62	80021	broad.mit.edu	37	15	43461855	43461855	+	Missense_Mutation	SNP	G	G	A	rs373644204		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:43461855G>A	ENST00000260403.2	+	11	1640	c.1361G>A	c.(1360-1362)cGa>cAa	p.R454Q	TMEM62_ENST00000569369.1_3'UTR	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	454						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TTTAGATATCGAGGATACCCA	0.378																																						ENST00000260403.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1360-1362)cGa>cAa		transmembrane protein 62		G	GLN/ARG	0,4406		0,0,2203	121.0	118.0	119.0		1361	-3.7	0.1	15		119	1,8597	1.2+/-3.3	0,1,4298	no	missense	TMEM62	NM_024956.3	43	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	454/644	43461855	1,13003	2203	4299	6502	SO:0001583	missense	80021					integral to membrane		g.chr15:43461855G>A	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.1361G>A	15.37:g.43461855G>A	ENSP00000260403:p.Arg454Gln					TMEM62_ENST00000569369.1_3'UTR	p.R454Q	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	11	1640	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	454					Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	c.1361G>A	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840090	0.32513	0.0	1.16E-4	ENSG00000137842	ENST00000260403	.	.	.	5.96	-3.71	0.04424	.	1.251540	0.05683	N	0.590773	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.09377	0.004	T	0.20571	-1.0271	9	0.29301	T	0.29	2.0259	5.7034	0.17895	0.4471:0.0:0.1797:0.3732	.	454	Q0P6H9	TMM62_HUMAN	Q	454	.	ENSP00000260403:R454Q	R	+	2	0	TMEM62	41249147	0.000000	0.05858	0.137000	0.22149	0.716000	0.41182	-0.139000	0.10358	-0.455000	0.07054	-0.345000	0.07892	CGA		0.378	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956		7	45	0	0	0	1	0	7	45				
ZBTB8A	653121	broad.mit.edu	37	1	33058778	33058778	+	Silent	SNP	C	C	T	rs144529739		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:33058778C>T	ENST00000373510.4	+	3	475	c.246C>T	c.(244-246)ttC>ttT	p.F82F	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Silent_p.F82F	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	82	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F82F(1)		cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TCTTGGACTTCGTATATTCTG	0.413																																						ENST00000373510.4																			1	Substitution - coding silent(1)	p.F82F(1)	cervix(1)	cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(244-246)ttC>ttT		zinc finger and BTB domain containing 8A		C		5,4401	9.9+/-24.2	0,5,2198	113.0	108.0	110.0		246	-8.3	0.8	1	dbSNP_134	110	0,8600		0,0,4300	no	coding-synonymous	ZBTB8A	NM_001040441.1		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		82/442	33058778	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33058778C>T	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.246C>T	1.37:g.33058778C>T						ZBTB8A_ENST00000316459.4_Silent_p.F82F|RP1-27O5.3_ENST00000480336.1_3'UTR	p.F82F	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN			3	475	+			82			BTB.		Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Silent	SNP	ENST00000373510.4	37	c.246C>T	CCDS30664.1																																																																																				0.413	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		35	129	0	0	0	1	0	35	129				
FRYL	285527	broad.mit.edu	37	4	48517166	48517166	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:48517166G>A	ENST00000503238.1	-	53	7815	c.7816C>T	c.(7816-7818)Cca>Tca	p.P2606S	FRYL_ENST00000358350.4_Missense_Mutation_p.P2606S|FRYL_ENST00000264319.7_Missense_Mutation_p.P2S|FRYL_ENST00000537810.1_Missense_Mutation_p.P2606S|FRYL_ENST00000507873.2_Missense_Mutation_p.P2S			O94915	FRYL_HUMAN	FRY-like	2606					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGAGGCTCTGGCATTTCAGTT	0.403																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(7816-7818)Cca>Tca		FRY-like							145.0	133.0	137.0					4																	48517166		1862	4096	5958	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48517166G>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7816C>T	4.37:g.48517166G>A	ENSP00000426064:p.Pro2606Ser					FRYL_ENST00000503238.1_Missense_Mutation_p.P2606S|FRYL_ENST00000264319.7_Missense_Mutation_p.P2S|FRYL_ENST00000537810.1_Missense_Mutation_p.P2606S|FRYL_ENST00000507873.2_Missense_Mutation_p.P2S	p.P2606S	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			56	8420	-			2606					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.7816C>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501385	0.44455	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.22134	1.97;1.97;1.98	5.96	5.11	0.69529	.	0.749488	0.11783	U	0.530011	T	0.22475	0.0542	L	0.51422	1.61	0.30622	N	0.758425	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.11329	0.002;0.006;0.005	T	0.09618	-1.0666	10	0.51188	T	0.08	.	10.6481	0.45632	0.0691:0.2681:0.6628:0.0	.	2606;2606;2	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	S	2606;2606;2606;2;2	ENSP00000426064:P2606S;ENSP00000351113:P2606S;ENSP00000441114:P2606S	ENSP00000264319:P2S	P	-	1	0	FRYL	48211923	0.991000	0.36638	0.930000	0.37139	0.732000	0.41865	1.562000	0.36353	1.523000	0.49018	0.585000	0.79938	CCA		0.403	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			49	147	0	0	0	1	0	49	147				
SLC2A13	114134	broad.mit.edu	37	12	40345097	40345097	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:40345097T>C	ENST00000280871.4	-	4	1046	c.996A>G	c.(994-996)ctA>ctG	p.L332L	SLC2A13_ENST00000380858.1_Silent_p.L332L	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	332					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GGAACATTTGTAGGCCACAAC	0.368										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(994-996)ctA>ctG		solute carrier family 2 (facilitated glucose transporter), member 13							90.0	89.0	90.0					12																	40345097		2203	4300	6503	SO:0001819	synonymous_variant	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40345097T>C	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.996A>G	12.37:g.40345097T>C		HNSCC(50;0.14)				SLC2A13_ENST00000380858.1_Silent_p.L332L	p.L332L	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			4	1046	-		Lung NSC(34;0.105)|all_lung(34;0.123)	332					Q17S07	Silent	SNP	ENST00000280871.4	37	c.996A>G	CCDS8736.2																																																																																				0.368	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			11	90	0	0	0	1	0	11	90				
MAGI3	260425	broad.mit.edu	37	1	114133184	114133184	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:114133184A>G	ENST00000307546.9	+	5	917	c.842A>G	c.(841-843)gAc>gGc	p.D281G	MAGI3_ENST00000369615.1_Missense_Mutation_p.D281G|MAGI3_ENST00000369611.4_Missense_Mutation_p.D281G|MAGI3_ENST00000369617.4_Missense_Mutation_p.D281G	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	281	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTCCATGGACTTTAGAAAT	0.408																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(841-843)gAc>gGc		membrane associated guanylate kinase, WW and PDZ domain containing 3							100.0	96.0	97.0					1																	114133184		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114133184A>G	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.842A>G	1.37:g.114133184A>G	ENSP00000304604:p.Asp281Gly					MAGI3_ENST00000369617.4_Missense_Mutation_p.D281G|MAGI3_ENST00000369611.4_Missense_Mutation_p.D281G|MAGI3_ENST00000307546.9_Missense_Mutation_p.D281G	p.D281G	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	904	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	281			Guanylate kinase-like.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.842A>G	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690099	0.48097	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.18338	2.45;2.22;2.42;2.42	5.74	4.62	0.57501	.	0.086755	0.85682	N	0.000000	T	0.15262	0.0368	L	0.48642	1.525	0.80722	D	1	D;P;P	0.58268	0.982;0.804;0.696	P;B;B	0.54889	0.763;0.36;0.333	T	0.01198	-1.1421	10	0.45353	T	0.12	-27.8038	11.673	0.51413	0.9306:0.0:0.0694:0.0	.	281;281;281	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	G	281	ENSP00000358630:D281G;ENSP00000304604:D281G;ENSP00000358628:D281G;ENSP00000358624:D281G	ENSP00000304604:D281G	D	+	2	0	MAGI3	113934707	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	8.580000	0.90784	1.007000	0.39238	-0.256000	0.11100	GAC		0.408	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		28	57	0	0	0	1	0	28	57				
PCDHGA12	26025	broad.mit.edu	37	5	140885038	140885038	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140885038G>A	ENST00000252085.3	+	3	2704	c.2562G>A	c.(2560-2562)gcG>gcA	p.A854A	PCDHGA11_ENST00000518882.1_Silent_p.A672A|PCDHGB1_ENST00000523390.1_Silent_p.A849A|PCDHGB7_ENST00000398594.2_Silent_p.A851A|PCDHGA10_ENST00000398610.2_Silent_p.A858A|PCDHGC5_ENST00000252087.1_Silent_p.A866A|PCDHGA9_ENST00000573521.1_Silent_p.A854A|PCDHGB6_ENST00000520790.1_Silent_p.A852A|PCDHGA2_ENST00000394576.2_Silent_p.A854A|PCDHGA11_ENST00000398587.2_Silent_p.A857A|PCDHGA1_ENST00000517417.1_Silent_p.A853A|PCDHGA5_ENST00000518069.1_Silent_p.A853A|PCDHGA7_ENST00000518325.1_Silent_p.A854A|PCDHGA4_ENST00000571252.1_Silent_p.A853A|PCDHGC4_ENST00000306593.1_Silent_p.A860A|PCDHGA6_ENST00000517434.1_Silent_p.A854A|PCDHGB2_ENST00000522605.1_Silent_p.A853A|PCDHGA8_ENST00000398604.2_Silent_p.A854A|PCDHGB3_ENST00000576222.1_Silent_p.A851A|PCDHGA3_ENST00000253812.6_Silent_p.A854A|PCDHGC3_ENST00000308177.3_Silent_p.A856A|PCDHGB4_ENST00000519479.1_Silent_p.A845A	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	854					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCTTGGCGTCCGCCAGTG	0.572																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(2560-2562)gcG>gcA									182.0	179.0	180.0					5																	140885038		2203	4300	6503	SO:0001819	synonymous_variant	26025							g.chr5:140885038G>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.2562G>A	5.37:g.140885038G>A						PCDHGB4_ENST00000519479.1_Silent_p.A845A|PCDHGA7_ENST00000518325.1_Silent_p.A854A|PCDHGA11_ENST00000398587.2_Silent_p.A857A|PCDHGA5_ENST00000518069.1_Silent_p.A853A|PCDHGB6_ENST00000520790.1_Silent_p.A852A|PCDHGA10_ENST00000398610.2_Silent_p.A858A|PCDHGA1_ENST00000517417.1_Silent_p.A853A|PCDHGA8_ENST00000398604.2_Silent_p.A854A|PCDHGA11_ENST00000518882.1_Silent_p.A672A|PCDHGB7_ENST00000398594.2_Silent_p.A851A|PCDHGC5_ENST00000252087.1_Silent_p.A866A|PCDHGB3_ENST00000576222.1_Silent_p.A851A|PCDHGA2_ENST00000394576.2_Silent_p.A854A|PCDHGA9_ENST00000573521.1_Silent_p.A854A|PCDHGB1_ENST00000523390.1_Silent_p.A849A|PCDHGA4_ENST00000571252.1_Silent_p.A853A|PCDHGB2_ENST00000522605.1_Silent_p.A853A|PCDHGA3_ENST00000253812.6_Silent_p.A854A|PCDHGC4_ENST00000306593.1_Silent_p.A860A|PCDHGC3_ENST00000308177.3_Silent_p.A856A|PCDHGA6_ENST00000517434.1_Silent_p.A854A	p.A854A	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	2704	+								O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.2562G>A	CCDS4260.1																																																																																				0.572	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		38	152	0	0	0	1	0	38	152				
OR4X1	390113	broad.mit.edu	37	11	48286262	48286262	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:48286262A>G	ENST00000320048.1	+	1	850	c.850A>G	c.(850-852)Att>Gtt	p.I284V		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						AAACCCTGTGATTTACTCCTT	0.408																																						ENST00000320048.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						c.(850-852)Att>Gtt		olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)							77.0	74.0	75.0					11																	48286262		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48286262A>G	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.850A>G	11.37:g.48286262A>G	ENSP00000321506:p.Ile284Val						p.I284V	NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN			1	850	+			284					Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.850A>G	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	A	8.764	0.924392	0.18056	.	.	ENSG00000176567	ENST00000320048	T	0.52057	0.68	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.49864	0.1582	M	0.80616	2.505	0.23827	N	0.996738	B	0.32939	0.391	B	0.29353	0.101	T	0.52094	-0.8621	9	0.66056	D	0.02	.	11.6989	0.51558	1.0:0.0:0.0:0.0	.	284	Q8NH49	OR4X1_HUMAN	V	284	ENSP00000321506:I284V	ENSP00000321506:I284V	I	+	1	0	OR4X1	48242838	1.000000	0.71417	0.923000	0.36655	0.138000	0.21146	4.647000	0.61418	1.919000	0.55581	0.460000	0.39030	ATT		0.408	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		25	64	0	0	0	1	0	25	64				
SIX2	10736	broad.mit.edu	37	2	45235822	45235822	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:45235822T>C	ENST00000303077.6	-	1	747	c.428A>G	c.(427-429)tAc>tGc	p.Y143C		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	143					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTTGTGCGCGTACCACTCGCG	0.657																																						ENST00000303077.6																			0				endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(427-429)tAc>tGc		SIX homeobox 2							58.0	62.0	61.0					2																	45235822		2203	4300	6503	SO:0001583	missense	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45235822T>C	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"""Homeoboxes / SINE class"""	10888	protein-coding gene	gene with protein product		604994	"""sine oculis homeobox (Drosophila) homolog 2"", ""sine oculis homeobox homolog 2 (Drosophila)"""				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.428A>G	2.37:g.45235822T>C	ENSP00000304502:p.Tyr143Cys						p.Y143C	NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN			1	747	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	143					Q9BXH7	Missense_Mutation	SNP	ENST00000303077.6	37	c.428A>G	CCDS1822.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.441194	0.83993	.	.	ENSG00000170577	ENST00000303077	D	0.96940	-4.18	5.19	5.19	0.71726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98651	0.9548	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99741	1.1015	10	0.87932	D	0	-35.6285	14.7246	0.69336	0.0:0.0:0.0:1.0	.	143;143	Q8TBA2;Q9NPC8	.;SIX2_HUMAN	C	143	ENSP00000304502:Y143C	ENSP00000304502:Y143C	Y	-	2	0	SIX2	45089326	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.988000	0.88194	1.953000	0.56701	0.379000	0.24179	TAC		0.657	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			16	111	0	0	0	1	0	16	111				
HOXC4	3221	broad.mit.edu	37	12	54448943	54448943	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:54448943C>T	ENST00000430889.2	+	2	795	c.749C>T	c.(748-750)gCc>gTc	p.A250V	HOXC4_ENST00000303406.4_Missense_Mutation_p.A250V|HOXC4_ENST00000609810.1_Missense_Mutation_p.A250V	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	250					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						TCCCAGAGCGCCACGCCGCCG	0.647																																						ENST00000430889.2																			0				cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(748-750)gCc>gTc		homeobox C4							16.0	18.0	18.0					12																	54448943		2202	4300	6502	SO:0001583	missense	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54448943C>T		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.749C>T	12.37:g.54448943C>T	ENSP00000399808:p.Ala250Val					HOXC4_ENST00000303406.4_Missense_Mutation_p.A250V	p.A250V	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN			2	795	+			250						Missense_Mutation	SNP	ENST00000430889.2	37	c.749C>T	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.274349	0.23307	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.89746	-2.56;-2.56	3.54	3.54	0.40534	.	0.483783	0.19696	N	0.108149	T	0.77294	0.4109	N	0.08118	0	0.31856	N	0.621653	B	0.25048	0.117	B	0.24974	0.057	T	0.74093	-0.3776	10	0.20519	T	0.43	.	14.3972	0.67020	0.0:1.0:0.0:0.0	.	250	P09017	HXC4_HUMAN	V	250	ENSP00000305973:A250V;ENSP00000399808:A250V	ENSP00000305973:A250V	A	+	2	0	HOXC4	52735210	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.017000	0.64047	1.984000	0.57885	0.448000	0.29417	GCC		0.647	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			13	17	0	0	0	1	0	13	17				
DYNC2H1	79659	broad.mit.edu	37	11	103060455	103060455	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:103060455T>C	ENST00000375735.2	+	45	7491	c.7347T>C	c.(7345-7347)gtT>gtC	p.V2449V	DYNC2H1_ENST00000398093.3_Silent_p.V2449V|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2449	AAA 3. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGGAACCAGTTCTACATAAAA	0.318																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(7345-7347)gtT>gtC		dynein, cytoplasmic 2, heavy chain 1							101.0	99.0	99.0					11																	103060455		1792	4063	5855	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103060455T>C	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.7347T>C	11.37:g.103060455T>C						DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.V2449V	p.V2449V	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	45	7491	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2449			AAA 3 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.7347T>C	CCDS53701.1																																																																																				0.318	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		5	102	0	0	0	1	0	5	102				
SGK223	157285	broad.mit.edu	37	8	8176218	8176218	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:8176218T>C	ENST00000520004.1	-	6	3931	c.3667A>G	c.(3667-3669)Acc>Gcc	p.T1223A	SGK223_ENST00000330777.4_Missense_Mutation_p.T1223A			Q86YV5	SG223_HUMAN		1227	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										AGGTTTGGGGTGCCGCCCGGC	0.657																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(3667-3669)Acc>Gcc									26.0	30.0	29.0					8																	8176218		1878	4100	5978	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8176218T>C																												ENST00000520004.1:c.3667A>G	8.37:g.8176218T>C	ENSP00000428054:p.Thr1223Ala					SGK223_ENST00000330777.4_Missense_Mutation_p.T1223A	p.T1223A			Q86YV5	SG223_HUMAN			6	3931	-			1223			Protein kinase.		Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.3667A>G	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	T	1.878	-0.458671	0.04508	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.64991	-0.13;-0.13	4.95	-0.151	0.13411	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.656829	0.15641	N	0.251875	T	0.44180	0.1281	L	0.43554	1.36	0.09310	N	1	B	0.18461	0.028	B	0.18871	0.023	T	0.19386	-1.0307	10	0.16420	T	0.52	.	3.9376	0.09313	0.4093:0.1573:0.0:0.4334	.	1223	Q86YV5	SG223_HUMAN	A	1223	ENSP00000330930:T1223A;ENSP00000428054:T1223A	ENSP00000330930:T1223A	T	-	1	0	AC068353.1	8213628	0.000000	0.05858	0.239000	0.24122	0.057000	0.15508	-0.106000	0.10890	0.101000	0.17610	0.383000	0.25322	ACC		0.657	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			11	60	0	0	0	1	0	11	60				
TLR4	7099	broad.mit.edu	37	9	120474737	120474737	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:120474737G>A	ENST00000355622.6	+	3	432	c.331G>A	c.(331-333)Gga>Aga	p.G111R	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.G71R	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	111					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.G111*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AATATTGACAGGAAACCCCAT	0.428																																						ENST00000355622.6																			1	Substitution - Nonsense(1)	p.G111*(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(331-333)Gga>Aga		toll-like receptor 4							54.0	55.0	55.0					9																	120474737		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120474737G>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.331G>A	9.37:g.120474737G>A	ENSP00000363089:p.Gly111Arg					TLR4_ENST00000394487.4_Missense_Mutation_p.G71R|TLR4_ENST00000472304.1_3'UTR	p.G111R	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	432	+			111					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.331G>A	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964517	0.74131	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.60424	0.32;0.19	5.35	5.35	0.76521	.	0.102320	0.43110	D	0.000612	T	0.69717	0.3142	L	0.37466	1.105	0.48975	D	0.999736	D	0.89917	1.0	D	0.97110	1.0	T	0.72364	-0.4316	10	0.72032	D	0.01	.	19.0681	0.93122	0.0:0.0:1.0:0.0	.	111	O00206	TLR4_HUMAN	R	71;111	ENSP00000377997:G71R;ENSP00000363089:G111R	ENSP00000363089:G111R	G	+	1	0	TLR4	119514558	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	5.459000	0.66685	2.510000	0.84645	0.655000	0.94253	GGA		0.428	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		14	45	0	0	0	1	0	14	45				
MAST2	23139	broad.mit.edu	37	1	46500250	46500250	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:46500250C>T	ENST00000361297.2	+	29	4192	c.3909C>T	c.(3907-3909)agC>agT	p.S1303S	MAST2_ENST00000372009.2_Intron	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCAGCTCCAGCGTGCCCAGTT	0.597																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(3907-3909)agC>agT		microtubule associated serine/threonine kinase 2							46.0	54.0	51.0					1																	46500250		2118	4240	6358	SO:0001819	synonymous_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46500250C>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.3909C>T	1.37:g.46500250C>T						MAST2_ENST00000372009.2_Intron|MAST2_ENST00000372008.1_Intron	p.S1303S	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			29	4192	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		1303						Silent	SNP	ENST00000361297.2	37	c.3909C>T	CCDS41326.1																																																																																				0.597	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		32	87	0	0	0	1	0	32	87				
B4GALT5	9334	broad.mit.edu	37	20	48260136	48260136	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:48260136T>C	ENST00000371711.4	-	4	603	c.416A>G	c.(415-417)gAa>gGa	p.E139G		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	139					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			GGAGAAGAGTTCATGAATGTA	0.458																																						ENST00000371711.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(415-417)gAa>gGa		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5							198.0	176.0	184.0					20																	48260136		2203	4300	6503	SO:0001583	missense	9334				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding	g.chr20:48260136T>C	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.416A>G	20.37:g.48260136T>C	ENSP00000360776:p.Glu139Gly						p.E139G	NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;2.51e-06)		4	603	-			139					E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	c.416A>G	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.032817	0.54790	.	.	ENSG00000158470	ENST00000371711	T	0.26067	1.76	5.46	4.34	0.51931	.	0.339258	0.34777	N	0.003686	T	0.19805	0.0476	N	0.25890	0.77	0.40190	D	0.977393	B	0.27264	0.173	B	0.29440	0.102	T	0.03981	-1.0987	10	0.41790	T	0.15	-10.5899	12.5471	0.56206	0.0:0.0:0.1394:0.8606	.	139	O43286	B4GT5_HUMAN	G	139	ENSP00000360776:E139G	ENSP00000360776:E139G	E	-	2	0	B4GALT5	47693543	0.163000	0.22920	0.541000	0.28102	0.987000	0.75469	1.522000	0.35921	0.875000	0.35847	0.459000	0.35465	GAA		0.458	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		25	90	0	0	0	1	0	25	90				
ASAP1	50807	broad.mit.edu	37	8	131149240	131149240	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:131149240T>C	ENST00000518721.1	-	14	1352	c.1125A>G	c.(1123-1125)gtA>gtG	p.V375V	ASAP1_ENST00000357668.1_Silent_p.V375V	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	375	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CATTAGGTTTTACTTGGCAGG	0.428																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(1123-1125)gtA>gtG		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							192.0	181.0	185.0					8																	131149240		2203	4300	6503	SO:0001819	synonymous_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131149240T>C	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1125A>G	8.37:g.131149240T>C						ASAP1_ENST00000518721.1_Silent_p.V375V	p.V375V			Q9ULH1	ASAP1_HUMAN			13	1152	-			375			PH.		B2RNV3	Silent	SNP	ENST00000518721.1	37	c.1125A>G	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	T	10.07	1.250140	0.22880	.	.	ENSG00000153317	ENST00000524124	.	.	.	6.07	4.28	0.50868	.	.	.	.	.	T	0.57562	0.2062	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53486	-0.8432	4	.	.	.	.	7.2097	0.25927	0.0:0.7107:0.1395:0.1498	.	.	.	.	E	196	.	.	K	-	1	0	ASAP1	131218422	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.198000	0.32223	0.887000	0.36136	-0.242000	0.12053	AAA		0.428	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		36	166	0	0	0	1	0	36	166				
DLL1	28514	broad.mit.edu	37	6	170597815	170597815	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:170597815A>G	ENST00000366756.3	-	3	746		c.e3+1		FAM120B_ENST00000540480.1_5'Flank	NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)						cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TTTTGTTTTTACCTGTTGCGA	0.498																																						ENST00000366756.3																			0				NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.e3+1		delta-like 1 (Drosophila)							272.0	256.0	261.0					6																	170597815		2203	4300	6503	SO:0001630	splice_region_variant	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170597815A>G	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.412+1T>C	6.37:g.170597815A>G								NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	3	746	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)						B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Splice_Site	SNP	ENST00000366756.3	37		CCDS5313.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.220634	0.58560	.	.	ENSG00000198719	ENST00000366756	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2003	0.65699	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLL1	170439740	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	8.684000	0.91242	1.947000	0.56498	0.456000	0.33151	.		0.498	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1		Intron	59	155	0	0	0	1	0	59	155				
RNMTL1	55178	broad.mit.edu	37	17	695069	695069	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:695069T>C	ENST00000304478.4	+	4	1129	c.1023T>C	c.(1021-1023)agT>agC	p.S341S	RP11-676J12.8_ENST00000574560.1_RNA	NM_018146.2	NP_060616.1			RNA methyltransferase like 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		AGGTTCAGAGTTACGACTCGG	0.562																																						ENST00000304478.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1021-1023)agT>agC		RNA methyltransferase like 1							63.0	65.0	65.0					17																	695069		2203	4300	6503	SO:0001819	synonymous_variant	55178				RNA processing		protein binding|RNA binding|RNA methyltransferase activity	g.chr17:695069T>C	AF177344	CCDS10997.1	17p13.3	2008-02-05			ENSG00000171861	ENSG00000171861			18485	protein-coding gene	gene with protein product		612600				12296377	Standard	NM_018146		Approved	FLJ10581, HC90	uc002frw.3	Q9HC36	OTTHUMG00000090285	ENST00000304478.4:c.1023T>C	17.37:g.695069T>C							p.S341S	NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)	4	1129	+			341						Silent	SNP	ENST00000304478.4	37	c.1023T>C	CCDS10997.1																																																																																				0.562	RNMTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206611.1	NM_018146		10	107	0	0	0	1	0	10	107				
ABCA7	10347	broad.mit.edu	37	19	1045192	1045192	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:1045192C>T	ENST00000263094.6	+	12	1638	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D	ABCA7_ENST00000435683.2_Silent_p.D331D|ABCA7_ENST00000433129.1_Silent_p.D469D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	469					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGCATGGACATTGACGTGG	0.652																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1405-1407)gaC>gaT		ATP-binding cassette, sub-family A (ABC1), member 7							41.0	42.0	42.0					19																	1045192		2203	4300	6503	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1045192C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1407C>T	19.37:g.1045192C>T						ABCA7_ENST00000433129.1_Silent_p.D469D|ABCA7_ENST00000435683.2_Silent_p.D331D	p.D469D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1638	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	469					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.1407C>T	CCDS12055.1																																																																																				0.652	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		23	96	0	0	0	1	0	23	96				
DSG1	1828	broad.mit.edu	37	18	28935292	28935292	+	Missense_Mutation	SNP	G	G	A	rs140838956	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:28935292G>A	ENST00000257192.4	+	15	3345	c.3133G>A	c.(3133-3135)Gtg>Atg	p.V1045M	RP11-534N16.1_ENST00000578119.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.V404M|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	1045					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GTATAGTACCGTGCAATATAG	0.438																																						ENST00000257192.4																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(3133-3135)Gtg>Atg		desmoglein 1		G	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	54.0	51.0	52.0		3133	4.2	1.0	18	dbSNP_134	52	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DSG1	NM_001942.2	21	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	possibly-damaging	1045/1050	28935292	4,13002	2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28935292G>A	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.3133G>A	18.37:g.28935292G>A	ENSP00000257192:p.Val1045Met					DSG1_ENST00000462981.2_Missense_Mutation_p.V404M|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	p.V1045M	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		15	3345	+			1045					B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.3133G>A	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316396	0.23908	4.54E-4	2.33E-4	ENSG00000134760	ENST00000257192	T	0.63580	-0.05	6.17	4.16	0.48862	.	0.207707	0.34046	N	0.004315	T	0.56790	0.2009	L	0.36672	1.1	0.35417	D	0.792937	D	0.60160	0.987	P	0.50049	0.629	T	0.65512	-0.6150	10	0.54805	T	0.06	.	9.1414	0.36906	0.1157:0.0:0.7441:0.1402	.	1045	Q02413	DSG1_HUMAN	M	1045	ENSP00000257192:V1045M	ENSP00000257192:V1045M	V	+	1	0	DSG1	27189290	0.157000	0.22836	0.990000	0.47175	0.943000	0.58893	0.392000	0.20801	2.941000	0.99782	0.655000	0.94253	GTG		0.438	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		14	36	0	0	0	1	0	14	36				
SOX7	83595	broad.mit.edu	37	8	10583449	10583449	+	Silent	SNP	T	T	C	rs200488622		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:10583449T>C	ENST00000304501.1	-	2	1044	c.966A>G	c.(964-966)gaA>gaG	p.E322E	SOX7_ENST00000553390.1_Silent_p.E374E|SOX7_ENST00000554914.1_Silent_p.E374E	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	322	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CCCCCAGGAGTTCCACCTGGC	0.617																																						ENST00000304501.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(964-966)gaA>gaG		SRY (sex determining region Y)-box 7							78.0	72.0	74.0					8																	10583449		2203	4300	6503	SO:0001819	synonymous_variant	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10583449T>C	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.966A>G	8.37:g.10583449T>C						SOX7_ENST00000554914.1_Silent_p.E374E|SOX7_ENST00000553390.1_Silent_p.E374E	p.E322E	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	2	1044	-			322			Sox C-terminal.		B4DKV0|Q53YD0	Silent	SNP	ENST00000304501.1	37	c.966A>G	CCDS5977.1																																																																																				0.617	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			17	60	0	0	0	1	0	17	60				
PSMD1	5707	broad.mit.edu	37	2	231948419	231948419	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:231948419T>C	ENST00000308696.6	+	14	1826	c.1664T>C	c.(1663-1665)gTa>gCa	p.V555A	PSMD1_ENST00000373635.4_Missense_Mutation_p.V555A|PSMD1_ENST00000409643.1_Missense_Mutation_p.V555A	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	555					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	ATAGCTTTAGTAATGTATGGG	0.453																																						ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(1663-1665)gTa>gCa		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						204.0	176.0	186.0					2																	231948419		2203	4300	6503	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231948419T>C	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1664T>C	2.37:g.231948419T>C	ENSP00000309474:p.Val555Ala					PSMD1_ENST00000409643.1_Missense_Mutation_p.V555A|PSMD1_ENST00000373635.4_Missense_Mutation_p.V555A	p.V555A	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	14	1826	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	555					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.1664T>C	CCDS2482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.35|17.35	3.367857|3.367857	0.61513|0.61513	.|.	.|.	ENSG00000173692|ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643|ENST00000447633	T;T;T|.	0.35048|.	1.33;1.33;1.33|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Armadillo-type fold (1);|.	0.051997|.	0.85682|.	D|.	0.000000|.	T|.	0.73466|.	0.3590|.	M|M	0.66378|0.66378	2.025|2.025	0.80722|0.80722	D|D	1|1	B;B|.	0.23058|.	0.008;0.079|.	B;B|.	0.23852|.	0.013;0.049|.	T|.	0.72187|.	-0.4366|.	10|.	0.37606|.	T|.	0.19|.	-16.4864|-16.4864	16.6438|16.6438	0.85155|0.85155	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	555;555|.	Q99460;Q99460-2|.	PSMD1_HUMAN;.|.	A|Q	555|48	ENSP00000309474:V555A;ENSP00000362738:V555A;ENSP00000386932:V555A|.	ENSP00000309474:V555A|.	V|X	+|+	2|1	0|0	PSMD1|PSMD1	231656663|231656663	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.841000|0.841000	0.47740|0.47740	7.880000|7.880000	0.87243|0.87243	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	GTA|TAA		0.453	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			24	67	0	0	0	1	0	24	67				
ELK3	2004	broad.mit.edu	37	12	96640943	96640943	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:96640943T>C	ENST00000228741.3	+	3	759	c.433T>C	c.(433-435)Tcc>Ccc	p.S145P	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	145					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CCTGTACTCGTCCTTCACCAT	0.627																																						ENST00000228741.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20						c.(433-435)Tcc>Ccc		ELK3, ETS-domain protein (SRF accessory protein 2)							71.0	69.0	70.0					12																	96640943		2203	4300	6503	SO:0001583	missense	2004				negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:96640943T>C	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.433T>C	12.37:g.96640943T>C	ENSP00000228741:p.Ser145Pro					ELK3_ENST00000552142.1_Intron	p.S145P	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN			3	759	+	all_cancers(2;0.00173)		145					B2R6S6|Q6FG57|Q6GU29|Q9UD17	Missense_Mutation	SNP	ENST00000228741.3	37	c.433T>C	CCDS9060.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.868240	0.51588	.	.	ENSG00000111145	ENST00000228741;ENST00000547860	T;T	0.55052	0.54;0.54	5.5	4.33	0.51752	.	0.094445	0.85682	D	0.000000	T	0.59183	0.2175	M	0.80982	2.52	0.80722	D	1	B	0.29301	0.241	B	0.35813	0.211	T	0.61618	-0.7026	10	0.87932	D	0	.	12.4997	0.55948	0.0:0.0:0.1398:0.8602	.	145	P41970	ELK3_HUMAN	P	145	ENSP00000228741:S145P;ENSP00000447857:S145P	ENSP00000228741:S145P	S	+	1	0	ELK3	95165074	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	5.880000	0.69698	0.891000	0.36235	0.379000	0.24179	TCC		0.627	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230		6	54	0	0	0	1	0	6	54				
DACH1	1602	broad.mit.edu	37	13	72440247	72440247	+	Silent	SNP	G	G	A	rs559041116		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:72440247G>A	ENST00000359684.2	-	1	660	c.661C>T	c.(661-663)Ctg>Ttg	p.L221L	DACH1_ENST00000313174.7_Silent_p.L221L|DACH1_ENST00000354591.4_Silent_p.L221L|DACH1_ENST00000305425.4_Silent_p.L221L			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	221	DACHbox-N.|Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AAGTGCTTCAGGAACAGGTCG	0.577																																						ENST00000305425.4																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(661-663)Ctg>Ttg		dachshund homolog 1 (Drosophila)							71.0	75.0	74.0					13																	72440247		2024	4191	6215	SO:0001819	synonymous_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72440247G>A	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.661C>T	13.37:g.72440247G>A						DACH1_ENST00000354591.4_Silent_p.L221L|DACH1_ENST00000359684.2_Silent_p.L221L|DACH1_ENST00000313174.7_Silent_p.L221L	p.L221L	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	1	1083	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	219			DACHbox-N.|Interaction with SIX6 and HDAC3 (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37	c.661C>T																																																																																					0.577	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		4	109	0	0	0	1	0	4	109				
DECR2	26063	broad.mit.edu	37	16	460246	460246	+	Missense_Mutation	SNP	C	C	T	rs141151070		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:460246C>T	ENST00000219481.5	+	5	479	c.341C>T	c.(340-342)gCg>gTg	p.A114V	DECR2_ENST00000397710.1_Silent_p.C176C|DECR2_ENST00000461947.1_3'UTR|DECR2_ENST00000424398.2_Missense_Mutation_p.A102V	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	114					unsaturated fatty acid biosynthetic process (GO:0006636)	peroxisomal membrane (GO:0005778)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				TCTGCAGGTGCGGCCGGGAAC	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		14897	0.0		0.001	False		,,,				2504	0.0					ENST00000219481.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9						c.(340-342)gCg>gTg		2,4-dienoyl CoA reductase 2, peroxisomal		C	VAL/ALA	3,4401	4.2+/-10.8	0,3,2199	50.0	41.0	44.0		341	5.7	1.0	16	dbSNP_134	44	2,8598	1.2+/-3.3	0,2,4298	yes	missense	DECR2	NM_020664.3	64	0,5,6497	TT,TC,CC		0.0233,0.0681,0.0384	probably-damaging	114/293	460246	5,12999	2202	4300	6502	SO:0001583	missense	26063					peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding	g.chr16:460246C>T	AJ293009	CCDS10409.1	16p13.3	2011-09-14			ENSG00000242612	ENSG00000242612	1.3.1.34	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2754	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 17C, member 1"""	615839				11514237, 19027726	Standard	NM_020664		Approved	PDCR, SDR17C1	uc002chb.3	Q9NUI1	OTTHUMG00000047846	ENST00000219481.5:c.341C>T	16.37:g.460246C>T	ENSP00000219481:p.Ala114Val					DECR2_ENST00000424398.2_Missense_Mutation_p.A102V|DECR2_ENST00000461947.1_3'UTR|DECR2_ENST00000397710.1_Silent_p.C176C	p.A114V	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN			5	479	+		Hepatocellular(16;0.00015)	114					Q6ZRS7|Q96ET0	Missense_Mutation	SNP	ENST00000219481.5	37	c.341C>T	CCDS10409.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	27.6	4.844201	0.91197	6.81E-4	2.33E-4	ENSG00000242612	ENST00000219481;ENST00000424398	T;T	0.36340	1.26;1.26	5.66	5.66	0.87406	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.65678	0.2714	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69347	-0.5169	10	0.72032	D	0.01	.	18.7179	0.91682	0.0:1.0:0.0:0.0	.	114	Q9NUI1	DECR2_HUMAN	V	114;102	ENSP00000219481:A114V;ENSP00000400374:A102V	ENSP00000219481:A114V	A	+	2	0	DECR2	400247	1.000000	0.71417	0.977000	0.42913	0.448000	0.32197	7.650000	0.83521	2.679000	0.91253	0.561000	0.74099	GCG		0.642	DECR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109069.4	NM_020664		6	21	0	0	0	1	0	6	21				
EEF2	1938	broad.mit.edu	37	19	3980975	3980975	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:3980975A>G	ENST00000309311.6	-	8	1102	c.1014T>C	c.(1012-1014)gcT>gcC	p.A338A	EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	338	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGCATCACAGCCTGCGGGG	0.647																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1012-1014)gcT>gcC		eukaryotic translation elongation factor 2							12.0	11.0	11.0					19																	3980975		2180	4281	6461	SO:0001819	synonymous_variant	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3980975A>G	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1014T>C	19.37:g.3980975A>G							p.A338A	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1102	-		Hepatocellular(1079;0.137)	338					B2RMP5|D6W618|Q58J86	Silent	SNP	ENST00000309311.6	37	c.1014T>C	CCDS12117.1																																																																																				0.647	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		3	8	0	0	0	1	0	3	8				
SOAT1	6646	broad.mit.edu	37	1	179271879	179271879	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:179271879T>C	ENST00000367619.3	+	2	203	c.60T>C	c.(58-60)ccT>ccC	p.P20P	SOAT1_ENST00000539888.1_Intron|SOAT1_ENST00000535686.1_Intron|SOAT1_ENST00000540564.1_5'UTR	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	20					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GGGAAAATCCTGAGGAAGATG	0.398																																						ENST00000367619.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(58-60)ccT>ccC		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						103.0	115.0	111.0					1																	179271879		2203	4300	6503	SO:0001819	synonymous_variant	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179271879T>C	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.60T>C	1.37:g.179271879T>C						SOAT1_ENST00000540564.1_5'UTR|SOAT1_ENST00000535686.1_Intron|SOAT1_ENST00000539888.1_Intron	p.P20P	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN			2	203	+			20					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Silent	SNP	ENST00000367619.3	37	c.60T>C	CCDS1330.1																																																																																				0.398	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		10	87	0	0	0	1	0	10	87				
ADD1	118	broad.mit.edu	37	4	2906672	2906672	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:2906672T>C	ENST00000398129.1	+	9	1363	c.1343T>C	c.(1342-1344)cTg>cCg	p.L448P	ADD1_ENST00000513328.2_Missense_Mutation_p.L448P|ADD1_ENST00000398123.2_Missense_Mutation_p.L448P|ADD1_ENST00000264758.7_Missense_Mutation_p.L448P|ADD1_ENST00000503455.2_Missense_Mutation_p.L448P|ADD1_ENST00000446856.1_Missense_Mutation_p.L448P|ADD1_ENST00000355842.3_Missense_Mutation_p.L448P|ADD1_ENST00000398125.1_Missense_Mutation_p.L448P			P35611	ADDA_HUMAN	adducin 1 (alpha)	448					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACAAGATGGCTGAACTCTGGC	0.542																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	ENST00000355842.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22						c.(1342-1344)cTg>cCg		adducin 1 (alpha)							79.0	71.0	74.0					4																	2906672		2203	4300	6503	SO:0001583	missense	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2906672T>C	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1343T>C	4.37:g.2906672T>C	ENSP00000381197:p.Leu448Pro					ADD1_ENST00000503455.2_Missense_Mutation_p.L448P|ADD1_ENST00000513328.2_Missense_Mutation_p.L448P|ADD1_ENST00000398129.1_Missense_Mutation_p.L448P|ADD1_ENST00000446856.1_Missense_Mutation_p.L448P|ADD1_ENST00000264758.7_Missense_Mutation_p.L448P|ADD1_ENST00000398123.2_Missense_Mutation_p.L448P|ADD1_ENST00000398125.1_Missense_Mutation_p.L448P	p.L448P			P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	11	2206	+			448					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	c.1343T>C	CCDS43205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.1|27.1	4.798871|4.798871	0.90538|0.90538	.|.	.|.	ENSG00000087274|ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129|ENST00000398124;ENST00000514940	T;T;T;T;T;T;T;T|.	0.28069|.	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.068529|.	0.64402|.	D|.	0.000012|.	T|.	0.78168|.	0.4241|.	M|M	0.83118|0.83118	2.625|2.625	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;0.992;1.0;1.0;0.996;1.0|.	D;D;D;D;D;D|.	0.80764|.	0.986;0.934;0.992;0.994;0.919;0.977|.	T|.	0.80284|.	-0.1447|.	10|.	0.87932|.	D|.	0|.	-17.552|-17.552	15.6886|15.6886	0.77430|0.77430	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	448;448;448;448;448;448|.	B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8|.	.;.;ADDA_HUMAN;.;.;.|.	P|R	448|401;154	ENSP00000264758:L448P;ENSP00000399828:L448P;ENSP00000381193:L448P;ENSP00000421907:L448P;ENSP00000423024:L448P;ENSP00000348100:L448P;ENSP00000381191:L448P;ENSP00000381197:L448P|.	ENSP00000264758:L448P|.	L|X	+|+	2|1	0|0	ADD1|ADD1	2876470|2876470	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.215000|6.215000	0.72206|0.72206	2.110000|2.110000	0.64415|0.64415	0.533000|0.533000	0.62120|0.62120	CTG|TGA		0.542	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		19	62	0	0	0	1	0	19	62				
ABCA9	10350	broad.mit.edu	37	17	66980290	66980290	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:66980290T>C	ENST00000340001.4	-	35	4617	c.4406A>G	c.(4405-4407)aAc>aGc	p.N1469S	ABCA9_ENST00000453985.2_Missense_Mutation_p.N1431S|ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1469	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CCTCTCCGTGTTTCTAAAGGT	0.512																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4405-4407)aAc>aGc		ATP-binding cassette, sub-family A (ABC1), member 9							81.0	71.0	75.0					17																	66980290		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66980290T>C	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4406A>G	17.37:g.66980290T>C	ENSP00000342216:p.Asn1469Ser					ABCA9_ENST00000453985.2_Missense_Mutation_p.N1431S|ABCA9_ENST00000370732.2_3'UTR	p.N1469S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			35	4617	-	Breast(10;1.47e-12)		1469			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.4406A>G	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	T	8.341	0.828705	0.16749	.	.	ENSG00000154258	ENST00000340001;ENST00000453985	D	0.95205	-3.64	5.01	2.77	0.32553	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.128883	0.34411	N	0.003990	D	0.85080	0.5615	N	0.04275	-0.24	0.48452	D	0.999652	B	0.22909	0.077	B	0.29176	0.099	T	0.78165	-0.2310	10	0.41790	T	0.15	.	7.4641	0.27312	0.0:0.3172:0.0:0.6828	.	1469	Q8IUA7	ABCA9_HUMAN	S	1469;1414	ENSP00000342216:N1469S	ENSP00000342216:N1469S	N	-	2	0	ABCA9	64491885	0.958000	0.32768	0.168000	0.22838	0.066000	0.16364	0.403000	0.20982	0.855000	0.35359	0.533000	0.62120	AAC		0.512	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		4	99	0	0	0	1	0	4	99				
GUCA1B	2979	broad.mit.edu	37	6	42153509	42153509	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:42153509G>A	ENST00000230361.3	-	3	479	c.384C>T	c.(382-384)tgC>tgT	p.C128C		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	128					body fluid secretion (GO:0007589)|cell-cell signaling (GO:0007267)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			GCTCTCGCCGGCAGGCTTTCT	0.562																																						ENST00000230361.3																			0				large_intestine(3)|lung(3)|skin(2)	8						c.(382-384)tgC>tgT		guanylate cyclase activator 1B (retina)							77.0	67.0	70.0					6																	42153509		2203	4300	6503	SO:0001819	synonymous_variant	2979				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr6:42153509G>A	AF173227	CCDS4865.1	6p21.1	2013-02-14			ENSG00000112599	ENSG00000112599		"""EF-hand domain containing"""	4679	protein-coding gene	gene with protein product		602275				9119368	Standard	NM_002098		Approved	GCAP2, RP48	uc003orz.3	Q9UMX6	OTTHUMG00000014697	ENST00000230361.3:c.384C>T	6.37:g.42153509G>A							p.C128C	NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)		3	479	-	Colorectal(47;0.196)		128					Q9NU15	Silent	SNP	ENST00000230361.3	37	c.384C>T	CCDS4865.1																																																																																				0.562	GUCA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040550.1	NM_002098		15	49	0	0	0	1	0	15	49				
ZNF292	23036	broad.mit.edu	37	6	87967022	87967022	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:87967022T>C	ENST00000369577.3	+	8	3718	c.3675T>C	c.(3673-3675)ggT>ggC	p.G1225G	ZNF292_ENST00000339907.4_Silent_p.G1220G	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1225						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AACAAGGTGGTATGTTATGTT	0.378																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(3673-3675)ggT>ggC		zinc finger protein 292							58.0	56.0	56.0					6																	87967022		1888	4117	6005	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87967022T>C	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3675T>C	6.37:g.87967022T>C						ZNF292_ENST00000339907.4_Silent_p.G1220G	p.G1225G	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	3718	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1225					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.3675T>C	CCDS47457.1																																																																																				0.378	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		8	26	0	0	0	1	0	8	26				
NCF1	653361	broad.mit.edu	37	7	74197366	74197366	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:74197366C>T	ENST00000289473.4	+	6	606	c.536C>T	c.(535-537)aCg>aTg	p.T179M	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	179	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	GCTCTGTCCACGGGGGACGTG	0.637																																						ENST00000289473.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						c.(535-537)aCg>aTg		neutrophil cytosolic factor 1							42.0	42.0	42.0					7																	74197366		2199	4298	6497	SO:0001583	missense	653361				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity	g.chr7:74197366C>T	M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"""NADPH oxidase organizer 2"", ""chronic granulomatous disease, autosomal 1"""	608512	"""neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"""				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.536C>T	7.37:g.74197366C>T	ENSP00000289473:p.Thr179Met					NCF1_ENST00000443956.3_3'UTR	p.T179M	NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN			6	606	+			179			SH3 1.		A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Missense_Mutation	SNP	ENST00000289473.4	37	c.536C>T	CCDS34657.1	.	.	.	.	.	.	.	.	.	.	c	2.059	-0.415811	0.04766	.	.	ENSG00000158517	ENST00000289473;ENST00000439439;ENST00000471594	T	0.49139	0.79	3.87	-3.18	0.05186	Src homology-3 domain (4);	1.656210	0.03082	N	0.158582	T	0.39384	0.1076	L	0.55481	1.735	0.09310	N	1	B;B	0.28378	0.209;0.05	B;B	0.17979	0.02;0.014	T	0.25641	-1.0126	10	0.44086	T	0.13	-0.5648	6.2254	0.20706	0.1184:0.5005:0.0:0.3811	.	179;179	P14598-2;P14598	.;NCF1_HUMAN	M	179;48;153	ENSP00000289473:T179M	ENSP00000289473:T179M	T	+	2	0	NCF1	73835302	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-0.011000	0.12721	-0.553000	0.06158	-0.555000	0.04198	ACG		0.637	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265		19	40	0	0	0	1	0	19	40				
ZNF638	27332	broad.mit.edu	37	2	71653961	71653961	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:71653961C>T	ENST00000409544.1	+	24	5592	c.4962C>T	c.(4960-4962)tgC>tgT	p.C1654C	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Silent_p.C1654C|ZNF638_ENST00000409407.1_Silent_p.C594C	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1654					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAGATGATTGCATTTCCCACA	0.348																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(4960-4962)tgC>tgT		zinc finger protein 638							59.0	60.0	60.0					2																	71653961		2203	4300	6503	SO:0001819	synonymous_variant	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71653961C>T	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.4962C>T	2.37:g.71653961C>T						ZNF638_ENST00000264447.4_Silent_p.C1654C|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Silent_p.C594C	p.C1654C	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			24	5592	+			1654					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	ENST00000409544.1	37	c.4962C>T	CCDS1917.1																																																																																				0.348	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		22	62	0	0	0	1	0	22	62				
BCRP7	100133163	broad.mit.edu	37	22	18846122	18846122	+	3'UTR	SNP	G	G	A	rs573460670		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:18846122G>A	ENST00000412938.1	+	0	3480																											ACGCACTGGCGCACGATGTAG	0.617													g|||	1	0.000199681	0.0008	0.0	5008	,	,		42199	0.0		0.0	False		,,,				2504	0.0					ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18846122G>A																												ENST00000412938.1:c.*3477G>A	22.37:g.18846122G>A														0	3480	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	58	0	0	0	1	0	5	58				
SPATA16	83893	broad.mit.edu	37	3	172631485	172631485	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:172631485T>C	ENST00000351008.3	-	10	1736	c.1553A>G	c.(1552-1554)aAc>aGc	p.N518S		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	518					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTCATTATTGTTTCTTCTTCC	0.363																																						ENST00000351008.3																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(1552-1554)aAc>aGc		spermatogenesis associated 16							122.0	112.0	115.0					3																	172631485		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172631485T>C	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1553A>G	3.37:g.172631485T>C	ENSP00000341765:p.Asn518Ser						p.N518S	NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		10	1736	-	Ovarian(172;0.00319)|Breast(254;0.197)		518					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.1553A>G	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.470778	0.26423	.	.	ENSG00000144962	ENST00000351008	T	0.12984	2.63	5.47	0.299	0.15771	.	0.511539	0.20507	N	0.090961	T	0.05364	0.0142	N	0.12746	0.255	0.21325	N	0.999724	B	0.09022	0.002	B	0.06405	0.002	T	0.43114	-0.9411	10	0.10377	T	0.69	-2.3838	5.5563	0.17119	0.0:0.3769:0.1454:0.4777	.	518	Q9BXB7	SPT16_HUMAN	S	518	ENSP00000341765:N518S	ENSP00000341765:N518S	N	-	2	0	SPATA16	174114179	0.030000	0.19436	0.940000	0.37924	0.845000	0.48019	0.166000	0.16583	-0.175000	0.10725	0.528000	0.53228	AAC		0.363	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		3	31	0	0	0	1	0	3	31				
SWI5	375757	broad.mit.edu	37	9	131038472	131038472	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:131038472C>T	ENST00000320188.5	+	1	48	c.48C>T	c.(46-48)tgC>tgT	p.C16C	GOLGA2_ENST00000609374.1_5'Flank|GOLGA2_ENST00000490628.1_5'Flank|SWI5_ENST00000418976.1_5'Flank|SWI5_ENST00000419867.2_5'Flank|SWI5_ENST00000495313.1_Intron|GOLGA2_ENST00000421699.2_5'Flank|SWI5_ENST00000608796.1_5'Flank	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	16					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											ACAAAAGCTGCGCACGCAACC	0.632																																						ENST00000320188.4																			0											c.(46-48)tgC>tgT		SWI5 recombination repair homolog (yeast)							30.0	36.0	34.0					9																	131038472		1959	4090	6049	SO:0001819	synonymous_variant	375757				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr9:131038472C>T	BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 119"""	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.48C>T	9.37:g.131038472C>T							p.C16C	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN			1	48	+			16					Q5SYX7|Q5SYX8|Q8N2W6	Silent	SNP	ENST00000320188.5	37	c.48C>T	CCDS43883.1																																																																																				0.632	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001040011		33	98	0	0	0	1	0	33	98				
HCAR2	338442	broad.mit.edu	37	12	123187372	123187372	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:123187372G>A	ENST00000328880.5	-	1	518	c.459C>T	c.(457-459)ggC>ggT	p.G153G	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	153					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	CAATAGTGATGCCCCACAGAA	0.547																																						ENST00000328880.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(457-459)ggC>ggT		hydroxycarboxylic acid receptor 2	Mepenzolate(DB04843)|Niacin(DB00627)						124.0	108.0	113.0					12																	123187372		2203	4300	6503	SO:0001819	synonymous_variant	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123187372G>A	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.459C>T	12.37:g.123187372G>A						RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	p.G153G	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN			1	518	-			153					A0PJL5|A7LGG3	Silent	SNP	ENST00000328880.5	37	c.459C>T	CCDS9235.1																																																																																				0.547	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		5	147	0	0	0	1	0	5	147				
SEPT12	124404	broad.mit.edu	37	16	4833691	4833691	+	Missense_Mutation	SNP	C	C	T	rs371195126		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:4833691C>T	ENST00000268231.8	-	6	852	c.589G>A	c.(589-591)Gac>Aac	p.D197N	SEPT12_ENST00000396693.5_Missense_Mutation_p.D151N|SEPT12_ENST00000591861.1_5'Flank	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	197	Septin-type G.		D -> N (in SPGF10; results in significantly reduced GTP hydrolysis due to impaired GTP binding). {ECO:0000269|PubMed:22275165}.		cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GTCAGGCTGTCGGCCCTGGCA	0.687																																						ENST00000268231.8																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						c.(589-591)Gac>Aac		septin 12		C	ASN/ASP,ASN/ASP	0,4394		0,0,2197	47.0	50.0	49.0		451,589	4.6	1.0	16		49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SEPT12	NM_001154458.2,NM_144605.4	23,23	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	151/313,197/359	4833691	1,12993	2197	4300	6497	SO:0001583	missense	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4833691C>T	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.589G>A	16.37:g.4833691C>T	ENSP00000268231:p.Asp197Asn					SEPT12_ENST00000396693.5_Missense_Mutation_p.D151N	p.D197N	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN			6	852	-			197					Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	ENST00000268231.8	37	c.589G>A	CCDS10522.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852009	0.71719	0.0	1.16E-4	ENSG00000140623	ENST00000396693;ENST00000268231	D;T	0.95980	-3.87;-1.45	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.98582	0.9526	H	0.97587	4.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99612	1.0981	10	0.87932	D	0	.	16.1963	0.82029	0.0:1.0:0.0:0.0	.	151;197	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	N	151;197	ENSP00000379922:D151N;ENSP00000268231:D197N	ENSP00000268231:D197N	D	-	1	0	SEPT12	4773692	1.000000	0.71417	0.960000	0.40013	0.109000	0.19521	7.521000	0.81832	2.416000	0.81992	0.313000	0.20887	GAC		0.687	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		22	69	0	0	0	1	0	22	69				
HPS1	3257	broad.mit.edu	37	10	100190934	100190934	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:100190934G>A	ENST00000325103.6	-	7	855	c.622C>T	c.(622-624)Cat>Tat	p.H208Y	HPS1_ENST00000361490.4_Missense_Mutation_p.H208Y|HPS1_ENST00000338546.5_Missense_Mutation_p.H208Y|HPS1_ENST00000467246.1_5'UTR|MIR4685_ENST00000578185.1_RNA	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	208					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGGAAGGCATGCAGGGCCTCC	0.622									Hermansky-Pudlak syndrome																													ENST00000325103.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(622-624)Cat>Tat		Hermansky-Pudlak syndrome 1							64.0	57.0	60.0					10																	100190934		2203	4300	6503	SO:0001583	missense	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100190934G>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.622C>T	10.37:g.100190934G>A	ENSP00000326649:p.His208Tyr					HPS1_ENST00000361490.4_Missense_Mutation_p.H208Y|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000338546.5_Missense_Mutation_p.H208Y	p.H208Y	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	7	855	-		Colorectal(252;0.234)	208					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	c.622C>T	CCDS7475.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.875731|4.875731	0.91664|0.91664	.|.	.|.	ENSG00000107521|ENSG00000107521	ENST00000414009|ENST00000325103;ENST00000361490;ENST00000407891;ENST00000359632;ENST00000338546	.|T;T;T;T	.|0.61274	.|1.54;1.54;0.12;1.54	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.106717	.|0.64402	.|D	.|0.000001	T|T	0.77811|0.77811	0.4186|0.4186	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.997;0.999;0.999	T|T	0.80699|0.80699	-0.1266|-0.1266	5|10	.|0.87932	.|D	.|0	.|.	18.5791|18.5791	0.91165|0.91165	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|208;208;208;208	.|Q92902;Q92902-3;Q8WXE5;D3DR62	.|HPS1_HUMAN;.;.;.	V|Y	75|208;208;208;36;208	.|ENSP00000326649:H208Y;ENSP00000355310:H208Y;ENSP00000352652:H36Y;ENSP00000343638:H208Y	.|ENSP00000326649:H208Y	A|H	-|-	2|1	0|0	HPS1|HPS1	100180924|100180924	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.877000|0.877000	0.50540|0.50540	9.166000|9.166000	0.94766|0.94766	2.477000|2.477000	0.83638|0.83638	0.561000|0.561000	0.74099|0.74099	GCA|CAT		0.622	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		11	31	0	0	0	1	0	11	31				
TMC3	342125	broad.mit.edu	37	15	81654580	81654580	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:81654580C>G	ENST00000359440.5	-	4	510	c.375G>C	c.(373-375)atG>atC	p.M125I	TMC3_ENST00000558726.1_Missense_Mutation_p.M125I|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TCTTTATCCTCATTTCCCAGG	0.483																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(373-375)atG>atC		transmembrane channel-like 3							106.0	102.0	103.0					15																	81654580		1959	4136	6095	SO:0001583	missense	342125					integral to membrane		g.chr15:81654580C>G	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.375G>C	15.37:g.81654580C>G	ENSP00000352413:p.Met125Ile					TMC3_ENST00000359440.5_Missense_Mutation_p.M125I	p.M125I			Q7Z5M5	TMC3_HUMAN			4	510	-			125						Missense_Mutation	SNP	ENST00000359440.5	37	c.375G>C	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957076	0.53293	.	.	ENSG00000188869	ENST00000359440	T	0.64991	-0.13	5.26	4.31	0.51392	.	0.130052	0.51477	D	0.000084	T	0.57888	0.2084	M	0.62723	1.935	0.48236	D	0.999615	B;B	0.33964	0.317;0.434	B;B	0.29598	0.104;0.081	T	0.58171	-0.7683	10	0.39692	T	0.17	-33.5716	14.8195	0.70062	0.1452:0.8548:0.0:0.0	.	125;125	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	I	125	ENSP00000352413:M125I	ENSP00000352413:M125I	M	-	3	0	TMC3	79441635	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.347000	0.65998	1.135000	0.42183	0.557000	0.71058	ATG		0.483	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		3	18	0	0	0	1	0	3	18				
KIAA1549L	25758	broad.mit.edu	37	11	33564173	33564173	+	Missense_Mutation	SNP	C	C	T	rs527617353		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:33564173C>T	ENST00000321505.4	+	1	353	c.173C>T	c.(172-174)tCt>tTt	p.S58F	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.S58F|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.S58F			Q6ZVL6	K154L_HUMAN	KIAA1549-like	58	Poly-Pro.					integral component of membrane (GO:0016021)											TCCCATCCGTCTCCCCCTCCC	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17256	0.0		0.0	False		,,,				2504	0.0					ENST00000321505.4																			0											c.(172-174)tCt>tTt		KIAA1549-like							89.0	89.0	89.0					11																	33564173		1937	4127	6064	SO:0001583	missense	25758							g.chr11:33564173C>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.173C>T	11.37:g.33564173C>T	ENSP00000315295:p.Ser58Phe					KIAA1549L_ENST00000265654.5_Missense_Mutation_p.S58F|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.S58F	p.S58F							1	353	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.173C>T	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	9.873	1.199585	0.22121	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654	.	.	.	4.84	3.92	0.45320	.	.	.	.	.	T	0.26810	0.0656	N	0.14661	0.345	0.09310	N	1	B;B	0.13594	0.001;0.008	B;B	0.16289	0.002;0.015	T	0.20273	-1.0280	8	0.66056	D	0.02	.	8.8898	0.35425	0.0:0.819:0.0:0.181	.	58;58	E9PAT2;Q6ZVL6-2	.;.	F	58	.	ENSP00000265654:S58F	S	+	2	0	C11orf41	33520749	0.081000	0.21417	0.007000	0.13788	0.005000	0.04900	1.550000	0.36223	1.024000	0.39682	0.561000	0.74099	TCT		0.562	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		5	112	0	0	0	1	0	5	112				
HLCS	3141	broad.mit.edu	37	21	38308878	38308878	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:38308878G>A	ENST00000399120.1	-	5	2097	c.867C>T	c.(865-867)tgC>tgT	p.C289C	HLCS_ENST00000336648.4_Silent_p.C289C	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	289					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CCTGGTACCTGCAGCCACTGC	0.582																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(865-867)tgC>tgT		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						72.0	68.0	69.0					21																	38308878		2203	4300	6503	SO:0001819	synonymous_variant	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38308878G>A		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.867C>T	21.37:g.38308878G>A						HLCS_ENST00000336648.3_Silent_p.C289C	p.C289C	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			5	2097	-		Myeloproliferative disorder(46;0.0422)	289					B2RAH1|D3DSG6|Q99451	Silent	SNP	ENST00000399120.1	37	c.867C>T	CCDS13647.1																																																																																				0.582	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			43	99	0	0	0	1	0	43	99				
CELSR2	1952	broad.mit.edu	37	1	109801625	109801625	+	Silent	SNP	G	G	A	rs530149398		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:109801625G>A	ENST00000271332.3	+	2	3943	c.3882G>A	c.(3880-3882)tcG>tcA	p.S1294S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1294	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCTGCTACTCGCGGCCCTGTG	0.711													G|||	1	0.000199681	0.0	0.0	5008	,	,		14450	0.0		0.0	False		,,,				2504	0.001				NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(3880-3882)tcG>tcA		cadherin, EGF LAG seven-pass G-type receptor 2							15.0	17.0	16.0					1																	109801625		2195	4295	6490	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109801625G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3882G>A	1.37:g.109801625G>A							p.S1294S	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	2	3943	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1294			EGF-like 2; calcium-binding.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.3882G>A	CCDS796.1																																																																																				0.711	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		9	25	0	0	0	1	0	9	25				
CORIN	10699	broad.mit.edu	37	4	47765467	47765467	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:47765467A>G	ENST00000273857.4	-	4	545	c.546T>C	c.(544-546)agT>agC	p.S182S	CORIN_ENST00000504584.1_Silent_p.S182S|CORIN_ENST00000502252.1_Silent_p.S115S|CORIN_ENST00000508498.1_Silent_p.S43S|CORIN_ENST00000505909.1_Silent_p.S182S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	182	FZ 1. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GTTGATAGCAACTGAGGCGAT	0.473																																						ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(544-546)agT>agC		corin, serine peptidase							124.0	107.0	113.0					4																	47765467		2203	4300	6503	SO:0001819	synonymous_variant	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47765467A>G	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.546T>C	4.37:g.47765467A>G						CORIN_ENST00000504584.1_Silent_p.S182S|CORIN_ENST00000502252.1_Silent_p.S115S|CORIN_ENST00000508498.1_Silent_p.S43S|CORIN_ENST00000505909.1_Silent_p.S182S	p.S182S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			4	545	-			182			FZ 1.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	c.546T>C	CCDS3477.1																																																																																				0.473	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			15	38	0	0	0	1	0	15	38				
NEK10	152110	broad.mit.edu	37	3	27243970	27243970	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:27243970C>T	ENST00000429845.2	-	25	2531	c.2169G>A	c.(2167-2169)gcG>gcA	p.A723A	NEK10_ENST00000295720.6_Silent_p.A35A|NEK10_ENST00000357467.2_Silent_p.A120A|NEK10_ENST00000383771.4_Silent_p.A35A|NEK10_ENST00000383770.3_Silent_p.A35A			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	723					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GACTCAAAGTCGCCATCTGAT	0.488																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2167-2169)gcG>gcA		NIMA-related kinase 10							90.0	78.0	82.0					3																	27243970		2203	4300	6503	SO:0001819	synonymous_variant	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27243970C>T	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2169G>A	3.37:g.27243970C>T						NEK10_ENST00000295720.6_Silent_p.A35A|NEK10_ENST00000383770.3_Silent_p.A35A|NEK10_ENST00000357467.2_Silent_p.A120A|NEK10_ENST00000383771.4_Silent_p.A35A	p.A723A			Q6ZWH5	NEK10_HUMAN			25	2531	-			723					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Silent	SNP	ENST00000429845.2	37	c.2169G>A																																																																																					0.488	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		13	43	0	0	0	1	0	13	43				
UBL4A	8266	broad.mit.edu	37	X	153713958	153713958	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:153713958G>A	ENST00000369660.4	-	4	479	c.394C>T	c.(394-396)Ctg>Ttg	p.L132L	UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Silent_p.L132L	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	132					cellular protein modification process (GO:0006464)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)	small conjugating protein ligase activity (GO:0019787)			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGTCGTCCAGCGTCAGGCGA	0.587																																					Esophageal Squamous(74;88 1215 11149 34177 46777)	ENST00000369660.4																			0				endometrium(5)|lung(1)|urinary_tract(1)	7						c.(394-396)Ctg>Ttg		ubiquitin-like 4A							95.0	89.0	91.0					X																	153713958		2203	4300	6503	SO:0001819	synonymous_variant	8266				protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity	g.chrX:153713958G>A	J03589	CCDS14754.1	Xq28	2010-08-05	2005-09-27	2005-09-27	ENSG00000102178	ENSG00000102178			12505	protein-coding gene	gene with protein product		312070	"""ubiquitin-like 4"""	UBL4		2829204, 16872915	Standard	NM_014235		Approved	GDX, DXS254E, GET5, MDY2, TMA24	uc004flo.3	P11441	OTTHUMG00000013370	ENST00000369660.4:c.394C>T	X.37:g.153713958G>A						UBL4A_ENST00000369653.4_Silent_p.L132L|UBL4A_ENST00000477777.1_5'UTR	p.L132L	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN			4	479	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		132					Q5HY80	Silent	SNP	ENST00000369660.4	37	c.394C>T	CCDS14754.1																																																																																				0.587	UBL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037238.2	NM_014235		61	43	0	0	0	1	0	61	43				
KRT74	121391	broad.mit.edu	37	12	52966367	52966367	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52966367T>G	ENST00000305620.2	-	2	603	c.556A>C	c.(556-558)Aac>Cac	p.N186H	KRT74_ENST00000549343.1_Missense_Mutation_p.N186H	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	186	Linker 1.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GGCTCCAGGTTCTTCTTGCAG	0.557																																						ENST00000549343.1																			0				kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(556-558)Aac>Cac		keratin 74							153.0	140.0	144.0					12																	52966367		2203	4300	6503	SO:0001583	missense	121391					keratin filament	structural molecule activity	g.chr12:52966367T>G	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.556A>C	12.37:g.52966367T>G	ENSP00000307240:p.Asn186His					KRT74_ENST00000305620.2_Missense_Mutation_p.N186H	p.N186H			Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	2	594	-			186			Linker 1.|Rod.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.556A>C	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.369131	0.61624	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	T;T	0.75704	-0.96;-0.96	4.71	2.21	0.28008	Filament (1);	0.000000	0.38663	N	0.001605	D	0.87873	0.6287	M	0.93462	3.42	0.29943	N	0.820884	D	0.69078	0.997	D	0.72075	0.976	D	0.85071	0.0940	10	0.66056	D	0.02	.	11.8062	0.52156	0.0:0.0:0.2784:0.7216	.	186	Q7RTS7	K2C74_HUMAN	H	186	ENSP00000447447:N186H;ENSP00000307240:N186H	ENSP00000307240:N186H	N	-	1	0	KRT74	51252634	1.000000	0.71417	0.817000	0.32601	0.996000	0.88848	4.013000	0.57138	0.331000	0.23511	0.528000	0.53228	AAC		0.557	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		39	158	0	0	0	1	0	39	158				
CABIN1	23523	broad.mit.edu	37	22	24515341	24515341	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:24515341C>T	ENST00000398319.2	+	28	4693	c.4308C>T	c.(4306-4308)aaC>aaT	p.N1436N	CABIN1_ENST00000405822.2_Silent_p.N1357N|CABIN1_ENST00000263119.5_Silent_p.N1436N	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1436					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TAGGAAAAAACGAGGAGTCAT	0.547																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4306-4308)aaC>aaT		calcineurin binding protein 1							55.0	63.0	60.0					22																	24515341		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24515341C>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.4308C>T	22.37:g.24515341C>T						CABIN1_ENST00000263119.5_Silent_p.N1436N|CABIN1_ENST00000405822.2_Silent_p.N1357N	p.N1436N	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			28	4693	+			1436					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.4308C>T	CCDS13823.1																																																																																				0.547	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		12	56	0	0	0	1	0	12	56				
PRLHR	2834	broad.mit.edu	37	10	120354158	120354158	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:120354158T>C	ENST00000369169.1	-	1	598	c.599A>G	c.(598-600)cAc>cGc	p.H200R	PRLHR_ENST00000239032.2_Missense_Mutation_p.H200R			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	200					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GAGCTCCACGTGATAGGTGTG	0.716																																						ENST00000239032.2																			0				large_intestine(2)|lung(8)|ovary(1)|skin(1)	12						c.(598-600)cAc>cGc		prolactin releasing hormone receptor							10.0	11.0	10.0					10																	120354158		2183	4254	6437	SO:0001583	missense	2834				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	g.chr10:120354158T>C	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"""GPCR / Class A : RF amide peptide receptors"""	4464	protein-coding gene	gene with protein product		600895	"""G protein-coupled receptor 10"""	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.599A>G	10.37:g.120354158T>C	ENSP00000358167:p.His200Arg					PRLHR_ENST00000369169.1_Missense_Mutation_p.H200R	p.H200R	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN		all cancers(201;0.0166)	2	737	-		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	200					O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	ENST00000369169.1	37	c.599A>G	CCDS7606.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.403876	0.62288	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.35789	1.29;1.29	4.54	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.40171	0.1106	N	0.20845	0.615	0.50632	D	0.999888	D	0.67145	0.996	P	0.61800	0.894	T	0.22941	-1.0202	10	0.35671	T	0.21	.	14.0388	0.64663	0.0:0.0:0.0:1.0	.	200	P49683	PRLHR_HUMAN	R	200	ENSP00000239032:H200R;ENSP00000358167:H200R	ENSP00000239032:H200R	H	-	2	0	PRLHR	120344148	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.134000	0.71689	1.909000	0.55274	0.533000	0.62120	CAC		0.716	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		3	23	0	0	0	1	0	3	23				
NFKBIZ	64332	broad.mit.edu	37	3	101576014	101576014	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:101576014T>C	ENST00000326172.5	+	10	2037	c.1922T>C	c.(1921-1923)tTt>tCt	p.F641S	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.F519S|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.F541S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	641	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TGCCTGTCTTTTGTGAATGCA	0.478																																						ENST00000326172.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1921-1923)tTt>tCt		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta							88.0	102.0	97.0					3																	101576014		2203	4300	6503	SO:0001583	missense	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101576014T>C	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1922T>C	3.37:g.101576014T>C	ENSP00000325663:p.Phe641Ser					NFKBIZ_ENST00000394054.2_Missense_Mutation_p.F541S|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.F519S	p.F641S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN			10	2037	+			641			Interaction with NFKB1/p50 (By similarity).		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	c.1922T>C	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850574	0.71719	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.98	5.98	0.97165	Ankyrin repeat-containing domain (4);	0.060180	0.64402	D	0.000002	T	0.27169	0.0666	N	0.02192	-0.645	0.48571	D	0.99967	P;D	0.58970	0.955;0.984	P;D	0.65773	0.731;0.938	T	0.35351	-0.9792	10	0.10111	T	0.7	-12.7051	16.4696	0.84102	0.0:0.0:0.0:1.0	.	519;641	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	S	541;541;519;641	ENSP00000419800:F541S;ENSP00000377618:F541S;ENSP00000325593:F519S;ENSP00000325663:F641S	ENSP00000325593:F519S	F	+	2	0	NFKBIZ	103058704	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.790000	0.62453	2.289000	0.77006	0.482000	0.46254	TTT		0.478	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		15	74	0	0	0	1	0	15	74				
DQX1	165545	broad.mit.edu	37	2	74750494	74750494	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:74750494G>A	ENST00000404568.3	-	5	1206	c.987C>T	c.(985-987)ttC>ttT	p.F329F	DQX1_ENST00000393951.2_Silent_p.F329F|DQX1_ENST00000495597.1_5'UTR	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	329	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GGGAGAAGGAGAAGTCAGCCA	0.547																																						ENST00000404568.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						c.(985-987)ttC>ttT		DEAQ box RNA-dependent ATPase 1							200.0	183.0	189.0					2																	74750494		2203	4300	6503	SO:0001819	synonymous_variant	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74750494G>A	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.987C>T	2.37:g.74750494G>A						DQX1_ENST00000393951.2_Silent_p.F329F|DQX1_ENST00000495597.1_5'UTR	p.F329F	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN			5	1206	-			329			Helicase C-terminal.		Q6B017|Q8NAM8	Silent	SNP	ENST00000404568.3	37	c.987C>T	CCDS1949.2																																																																																				0.547	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		87	302	0	0	0	1	0	87	302				
TRAPPC10	7109	broad.mit.edu	37	21	45457779	45457779	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:45457779T>C	ENST00000291574.4	+	3	431	c.256T>C	c.(256-258)Ttc>Ctc	p.F86L	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.F86L	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	86					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CACGTTTCCCTTCCTCCATAT	0.522																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(256-258)Ttc>Ctc		trafficking protein particle complex 10							119.0	103.0	109.0					21																	45457779		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45457779T>C	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.256T>C	21.37:g.45457779T>C	ENSP00000291574:p.Phe86Leu					TRAPPC10_ENST00000380221.3_Missense_Mutation_p.F86L	p.F86L	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			3	431	+			86					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.256T>C	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.793859	0.90453	.	.	ENSG00000160218	ENST00000380221;ENST00000291574	T;T	0.40476	1.03;2.0	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	L	0.47716	1.5	0.80722	D	1	D;D	0.62365	0.991;0.99	P;D	0.72982	0.895;0.979	T	0.50676	-0.8800	10	0.28530	T	0.3	.	15.579	0.76418	0.0:0.0:0.0:1.0	.	86;86	P48553;Q86SI7	TPC10_HUMAN;.	L	86	ENSP00000369570:F86L;ENSP00000291574:F86L	ENSP00000291574:F86L	F	+	1	0	TRAPPC10	44282207	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.500000	0.81588	2.221000	0.72209	0.482000	0.46254	TTC		0.522	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		44	114	0	0	0	1	0	44	114				
TDRD10	126668	broad.mit.edu	37	1	154515221	154515221	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:154515221G>A	ENST00000368480.3	+	8	512	c.427G>A	c.(427-429)Gct>Act	p.A143T	TDRD10_ENST00000368482.4_Missense_Mutation_p.A143T|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	143							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A143T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TATACAGCTCGCTCCTAAAGC	0.512																																						ENST00000368482.4																			1	Substitution - Missense(1)	p.A143T(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(427-429)Gct>Act		tudor domain containing 10							104.0	93.0	97.0					1																	154515221		2203	4300	6503	SO:0001583	missense	126668						nucleotide binding|RNA binding	g.chr1:154515221G>A	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.427G>A	1.37:g.154515221G>A	ENSP00000357465:p.Ala143Thr					TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Missense_Mutation_p.A143T	p.A143T	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		8	1265	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		143					A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	c.427G>A	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.391933	0.01185	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.21543	2.02;2.0	3.32	-0.632	0.11523	.	.	.	.	.	T	0.01558	0.0050	N	0.01576	-0.805	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.04013	0.001;0.001	T	0.47971	-0.9075	9	0.15499	T	0.54	-0.0969	6.0416	0.19738	0.5875:0.0:0.4125:0.0	.	143;143	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	T	143	ENSP00000357467:A143T;ENSP00000357465:A143T	ENSP00000357465:A143T	A	+	1	0	TDRD10	152781845	0.000000	0.05858	0.004000	0.12327	0.016000	0.09150	-0.178000	0.09782	-0.343000	0.08351	-0.403000	0.06358	GCT		0.512	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		7	70	0	0	0	1	0	7	70				
FHOD1	29109	broad.mit.edu	37	16	67264368	67264368	+	Missense_Mutation	SNP	G	G	A	rs190207170		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67264368G>A	ENST00000258201.4	-	19	3147	c.2900C>T	c.(2899-2901)gCg>gTg	p.A967V		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	967	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TTCACGGGCCGCCTGCGGGGT	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		19793	0.001		0.0	False		,,,				2504	0.0					ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2899-2901)gCg>gTg		formin homology 2 domain containing 1							79.0	81.0	81.0					16																	67264368		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264368G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2900C>T	16.37:g.67264368G>A	ENSP00000258201:p.Ala967Val					FHOD1_ENST00000567687.1_Missense_Mutation_p.A546V	p.A967V	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	19	3147	-		Ovarian(137;0.0563)	967			FH2.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.2900C>T	CCDS10834.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.57	1.677471	0.29783	.	.	ENSG00000135723	ENST00000258201	T	0.37235	1.21	5.76	2.27	0.28462	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.244263	0.41938	D	0.000783	T	0.21387	0.0515	N	0.20986	0.625	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.14117	-1.0484	10	0.37606	T	0.19	.	7.2553	0.26173	0.0795:0.1308:0.6668:0.1229	.	967	Q9Y613	FHOD1_HUMAN	V	967	ENSP00000258201:A967V	ENSP00000258201:A967V	A	-	2	0	FHOD1	65821869	0.003000	0.15002	0.719000	0.30619	0.648000	0.38561	1.396000	0.34531	0.774000	0.33427	0.561000	0.74099	GCG		0.592	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			34	99	0	0	0	1	0	34	99				
HIST1H1B	3009	broad.mit.edu	37	6	27834914	27834914	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:27834914T>C	ENST00000331442.3	-	1	445	c.394A>G	c.(394-396)Aag>Gag	p.K132E		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	132					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCGGGCTTCTTAGCTTTAGCG	0.612																																						ENST00000331442.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(394-396)Aag>Gag		histone cluster 1, H1b							82.0	97.0	92.0					6																	27834914		2203	4298	6501	SO:0001583	missense	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834914T>C	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.394A>G	6.37:g.27834914T>C	ENSP00000330074:p.Lys132Glu						p.K132E	NM_005322.2	NP_005313.1	P16401	H15_HUMAN			1	445	-			132					Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	c.394A>G	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.239756	0.58995	.	.	ENSG00000184357	ENST00000331442	T	0.23950	1.88	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.07593	0.0191	N	0.08118	0	0.54753	D	0.999984	B	0.15473	0.013	B	0.13407	0.009	T	0.08513	-1.0718	10	0.72032	D	0.01	-5.3146	14.5461	0.68032	0.0:0.0:0.0:1.0	.	132	P16401	H15_HUMAN	E	132	ENSP00000330074:K132E	ENSP00000330074:K132E	K	-	1	0	HIST1H1B	27942893	1.000000	0.71417	0.367000	0.25926	0.623000	0.37688	5.858000	0.69532	2.103000	0.63969	0.533000	0.62120	AAG		0.612	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		68	202	0	0	0	1	0	68	202				
PKD2L2	27039	broad.mit.edu	37	5	137241900	137241900	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:137241900T>C	ENST00000508883.1	+	6	778	c.752T>C	c.(751-753)gTg>gCg	p.V251A	PKD2L2_ENST00000290431.5_Missense_Mutation_p.V251A|PKD2L2_ENST00000350250.4_Missense_Mutation_p.V217A|PKD2L2_ENST00000508638.1_Missense_Mutation_p.V251A|PKD2L2_ENST00000502810.1_Missense_Mutation_p.V251A			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	251					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TACAGATTGGTGGCAGAATTC	0.343																																						ENST00000508638.1																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28						c.(751-753)gTg>gCg		polycystic kidney disease 2-like 2							96.0	89.0	92.0					5																	137241900		1840	4098	5938	SO:0001583	missense	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137241900T>C	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.752T>C	5.37:g.137241900T>C	ENSP00000424725:p.Val251Ala					PKD2L2_ENST00000502810.1_Missense_Mutation_p.V251A|PKD2L2_ENST00000508883.1_Missense_Mutation_p.V251A|PKD2L2_ENST00000350250.4_Missense_Mutation_p.V217A|PKD2L2_ENST00000290431.5_Missense_Mutation_p.V251A	p.V251A	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		6	807	+			251					A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37	c.752T>C		.	.	.	.	.	.	.	.	.	.	T	16.02	3.003387	0.54254	.	.	ENSG00000078795	ENST00000503015;ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	5.12	3.95	0.45737	Polycystin cation channel, PKD1/PKD2 (1);	0.245066	0.28398	N	0.015489	T	0.65417	0.2689	M	0.62266	1.93	0.29061	N	0.883928	B;B;B	0.29552	0.032;0.248;0.006	B;B;B	0.29077	0.098;0.064;0.005	T	0.61133	-0.7124	10	0.42905	T	0.14	-1.7191	9.8396	0.40991	0.0:0.0823:0.0:0.9177	.	251;251;251	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	A	161;217;251;251;251;251	ENSP00000424885:V161A;ENSP00000344177:V217A;ENSP00000423382:V251A;ENSP00000425513:V251A;ENSP00000424725:V251A;ENSP00000290431:V251A	ENSP00000290431:V251A	V	+	2	0	PKD2L2	137269799	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.955000	0.63638	0.797000	0.33971	0.383000	0.25322	GTG		0.343	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		27	60	0	0	0	1	0	27	60				
GPATCH8	23131	broad.mit.edu	37	17	42477017	42477017	+	Missense_Mutation	SNP	G	G	A	rs200071266		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:42477017G>A	ENST00000591680.1	-	8	2458	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W	GPATCH8_ENST00000434000.1_Missense_Mutation_p.R732W	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	810	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGTTGGCTCCGATGGCTAGAC	0.552													G|||	0	0.0	0.0	0.0	5008	,	,		20298	0.0		0.0	False		,,,				2504	0.0					ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2194-2196)Cgg>Tgg		G patch domain containing 8		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	128.0	96.0	107.0		2428	3.4	1.0	17		107	0,8600		0,0,4300	no	missense	GPATCH8	NM_001002909.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	810/1503	42477017	1,13005	2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42477017G>A	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2428C>T	17.37:g.42477017G>A	ENSP00000467556:p.Arg810Trp					GPATCH8_ENST00000591680.1_Missense_Mutation_p.R810W	p.R732W			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	2476	-		Prostate(33;0.0181)	810					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.2194C>T	CCDS32666.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.23	1.876684	0.33162	2.27E-4	0.0	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.13307	2.6	4.35	3.36	0.38483	.	0.068525	0.64402	D	0.000019	T	0.14013	0.0339	N	0.24115	0.695	0.37136	D	0.901472	D	0.69078	0.997	P	0.50490	0.642	T	0.11916	-1.0568	10	0.87932	D	0	-4.7515	11.3842	0.49776	0.0:0.0:0.6391:0.3609	.	810	Q9UKJ3	GPTC8_HUMAN	W	810;732	ENSP00000395016:R732W	ENSP00000335486:R810W	R	-	1	2	GPATCH8	39832543	0.820000	0.29190	0.996000	0.52242	0.990000	0.78478	1.931000	0.40134	1.367000	0.46095	0.561000	0.74099	CGG		0.552	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		31	87	0	0	0	1	0	31	87				
RUSC2	9853	broad.mit.edu	37	9	35555441	35555441	+	Missense_Mutation	SNP	C	C	T	rs267602224		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35555441C>T	ENST00000455600.1	+	3	2968	c.2399C>T	c.(2398-2400)tCg>tTg	p.S800L		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	800						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCCTCCACTTCGTGCTCCCCT	0.667																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2398-2400)tCg>tTg		RUN and SH3 domain containing 2							71.0	76.0	75.0					9																	35555441		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35555441C>T	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2399C>T	9.37:g.35555441C>T	ENSP00000393922:p.Ser800Leu						p.S800L	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		3	2968	+			800					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.2399C>T	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116704	0.77323	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.26810	1.71;1.71	3.7	3.7	0.42460	.	0.172722	0.40908	D	0.000981	T	0.26738	0.0654	L	0.27053	0.805	0.37474	D	0.915715	D	0.69078	0.997	P	0.53224	0.721	T	0.13176	-1.0519	10	0.56958	D	0.05	-4.6256	11.112	0.48239	0.0:1.0:0.0:0.0	.	800	Q8N2Y8	RUSC2_HUMAN	L	800	ENSP00000355177:S800L;ENSP00000393922:S800L	ENSP00000355177:S800L	S	+	2	0	RUSC2	35545441	0.996000	0.38824	1.000000	0.80357	0.986000	0.74619	3.457000	0.53007	2.055000	0.61198	0.563000	0.77884	TCG		0.667	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		86	199	0	0	0	1	0	86	199				
FASTKD3	79072	broad.mit.edu	37	5	7863000	7863000	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:7863000A>G	ENST00000264669.5	-	4	1771	c.1635T>C	c.(1633-1635)acT>acC	p.T545T	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	545					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTAAAAGGTTAGTCAGCCCAA	0.373																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1633-1635)acT>acC		FAST kinase domains 3							133.0	147.0	142.0					5																	7863000		2203	4300	6503	SO:0001819	synonymous_variant	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7863000A>G	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1635T>C	5.37:g.7863000A>G						FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	p.T545T	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			4	1771	-			545					Q9BVD3	Silent	SNP	ENST00000264669.5	37	c.1635T>C	CCDS3873.1																																																																																				0.373	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		8	253	0	0	0	1	0	8	253				
LRRC37A3	374819	broad.mit.edu	37	17	62865264	62865264	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:62865264A>G	ENST00000584306.1	-	8	3457	c.2927T>C	c.(2926-2928)cTg>cCg	p.L976P	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.L976P|RN7SL404P_ENST00000582421.1_RNA|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.L94P|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.L14P	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	976						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AACAGTTGTCAGAGGATTGTG	0.299																																						ENST00000584306.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2926-2928)cTg>cCg		leucine rich repeat containing 37, member A3							101.0	126.0	117.0					17																	62865264		1508	2706	4214	SO:0001583	missense	374819					integral to membrane		g.chr17:62865264A>G	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.2927T>C	17.37:g.62865264A>G	ENSP00000464535:p.Leu976Pro					LRRC37A3_ENST00000339474.5_Missense_Mutation_p.L94P|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.L14P|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.L976P	p.L976P	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN			8	3457	-			976					Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.2927T>C	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	A	0.602	-0.828776	0.02734	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000319651	T;D	0.87103	0.34;-2.21	2.64	2.64	0.31445	.	.	.	.	.	D	0.94778	0.8314	H	0.97516	4.02	0.41042	D	0.985239	D;P	0.89917	1.0;0.948	D;P	0.97110	1.0;0.603	D	0.93701	0.7015	9	0.87932	D	0	.	7.0242	0.24930	1.0:0.0:0.0:0.0	.	94;976	B4DG20;O60309	.;L37A3_HUMAN	P	57;14;976	ENSP00000383674:L14P;ENSP00000325713:L976P	ENSP00000325713:L976P	L	-	2	0	LRRC37A3	60295726	1.000000	0.71417	0.801000	0.32222	0.180000	0.23129	3.800000	0.55537	1.215000	0.43411	0.172000	0.16884	CTG		0.299	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		32	131	0	0	0	1	0	32	131				
SLIT3	6586	broad.mit.edu	37	5	168180952	168180952	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:168180952G>A	ENST00000519560.1	-	17	2165	c.1746C>T	c.(1744-1746)agC>agT	p.S582S	SLIT3_ENST00000404867.3_Silent_p.S582S|SLIT3_ENST00000332966.8_Silent_p.S582S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	582					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTCCTGCACGCTGGCTGCTC	0.552																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1744-1746)agC>agT		slit homolog 3 (Drosophila)							43.0	40.0	41.0					5																	168180952		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168180952G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1746C>T	5.37:g.168180952G>A						SLIT3_ENST00000404867.3_Silent_p.S582S|SLIT3_ENST00000332966.8_Silent_p.S582S	p.S582S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		17	2165	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	582					A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.1746C>T	CCDS4369.1																																																																																				0.552	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		10	31	0	0	0	1	0	10	31				
SKAP2	8935	broad.mit.edu	37	7	26778441	26778441	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:26778441C>T	ENST00000345317.2	-	6	755	c.442G>A	c.(442-444)Gta>Ata	p.V148I	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	148	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TAATAGAATACCGTTTTACTG	0.383																																						ENST00000345317.2																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						c.(442-444)Gta>Ata		src kinase associated phosphoprotein 2							117.0	116.0	116.0					7																	26778441		2203	4300	6503	SO:0001583	missense	8935				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	g.chr7:26778441C>T		CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"""Pleckstrin homology (PH) domain containing"""	15687	protein-coding gene	gene with protein product		605215	"""src family associated phosphoprotein 2"""	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.442G>A	7.37:g.26778441C>T	ENSP00000005587:p.Val148Ile					SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_5'UTR	p.V148I	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN			6	755	-			148			PH.		A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	ENST00000345317.2	37	c.442G>A	CCDS5400.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299121	0.23650	.	.	ENSG00000005020	ENST00000345317;ENST00000535331	T	0.76578	-1.03	5.7	5.7	0.88788	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.156720	0.56097	D	0.000032	T	0.61148	0.2324	N	0.02420	-0.555	0.80722	D	1	P;B	0.45212	0.853;0.135	P;B	0.46917	0.531;0.068	T	0.63761	-0.6564	10	0.14252	T	0.57	-6.4538	16.7512	0.85487	0.0:1.0:0.0:0.0	.	133;148	B7Z5N4;O75563	.;SKAP2_HUMAN	I	148;133	ENSP00000005587:V148I	ENSP00000005587:V148I	V	-	1	0	SKAP2	26744966	0.983000	0.35010	0.903000	0.35520	0.744000	0.42396	4.245000	0.58734	2.696000	0.92011	0.561000	0.74099	GTA		0.383	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1			15	79	0	0	0	1	0	15	79				
TRMU	55687	broad.mit.edu	37	22	46752902	46752902	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:46752902G>A	ENST00000290846.4	+	11	1605	c.1265G>A	c.(1264-1266)tGa>tAa	p.*422*	TRMU_ENST00000381019.3_3'UTR	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	0					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		CCCTTGCTCTGACAGAGATGG	0.627																																						ENST00000290846.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(1264-1266)tGa>tAa		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase							38.0	41.0	40.0					22																	46752902		2203	4300	6503	SO:0001819	synonymous_variant	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46752902G>A	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.1265G>A	22.37:g.46752902G>A						TRMU_ENST00000381019.3_3'UTR	p.*422*	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	11	1605	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	0					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Silent	SNP	ENST00000290846.4	37	c.1265G>A	CCDS14075.1																																																																																				0.627	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		17	49	0	0	0	1	0	17	49				
TGS1	96764	broad.mit.edu	37	8	56698986	56698986	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:56698986A>G	ENST00000260129.5	+	4	1006	c.529A>G	c.(529-531)Act>Gct	p.T177A		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	177					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CAAAAAAGATACTGAGACAGA	0.343																																					Esophageal Squamous(34;275 823 4842 34837 48447)	ENST00000260129.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(529-531)Act>Gct		trimethylguanosine synthase 1							63.0	66.0	65.0					8																	56698986		2203	4300	6503	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56698986A>G	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.529A>G	8.37:g.56698986A>G	ENSP00000260129:p.Thr177Ala						p.T177A	NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		4	1006	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	177					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.529A>G	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	A	0.337	-0.952881	0.02285	.	.	ENSG00000137574	ENST00000260129	T	0.17528	2.27	5.79	-5.15	0.02866	.	1.764010	0.02458	N	0.086232	T	0.07728	0.0194	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.23190	-1.0195	10	0.07644	T	0.81	1.7666	1.852	0.03171	0.2587:0.089:0.3225:0.3298	.	177;177	B2RBJ7;Q96RS0	.;TGS1_HUMAN	A	177	ENSP00000260129:T177A	ENSP00000260129:T177A	T	+	1	0	TGS1	56861540	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.172000	0.09868	-0.773000	0.04596	0.533000	0.62120	ACT		0.343	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		21	88	0	0	0	1	0	21	88				
FRAS1	80144	broad.mit.edu	37	4	79360054	79360054	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:79360054A>G	ENST00000325942.6	+	40	5806		c.e40-1		FRAS1_ENST00000264895.6_Splice_Site	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1						cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTTTTTTATAGATACTCAGC	0.363																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.e40-1		Fraser syndrome 1							94.0	96.0	96.0					4																	79360054		1876	4104	5980	SO:0001630	splice_region_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79360054A>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5367-1A>G	4.37:g.79360054A>G						FRAS1_ENST00000325942.6_Splice_Site		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			40	5806	+								A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Splice_Site	SNP	ENST00000325942.6	37		CCDS54772.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.821012	0.32237	.	.	ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000510944;ENST00000545316;ENST00000512123	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3574	0.83241	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRAS1	79579078	1.000000	0.71417	0.923000	0.36655	0.202000	0.24057	8.057000	0.89457	2.270000	0.75569	0.477000	0.44152	.		0.363	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		Intron	17	84	0	0	0	1	0	17	84				
TFPT	29844	broad.mit.edu	37	19	54611747	54611747	+	Intron	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54611747C>T	ENST00000391759.1	-	4	759				NDUFA3_ENST00000391764.3_Splice_Site_p.A55V|TFPT_ENST00000391758.1_Intron|TFPT_ENST00000391757.1_Intron	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)						apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					TATCTCCTAGCGGCTGGGGAA	0.597			T	TCF3	pre-B ALL																																	ENST00000391764.3				Dom	yes		19	19q13	29844		TCF3 (E2A) fusion partner (in childhood Leukemia)			L					0				breast(1)|endometrium(1)	2						c.e4-1		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa	NADH(DB00157)						33.0	35.0	34.0					19																	54611747		2203	4300	6503	SO:0001627	intron_variant	4696				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:54611747C>T	AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"""INO80 complex subunits"""	13630	protein-coding gene	gene with protein product	"""amida, partner of the E2A"", ""INO80 complex subunit F"""	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.354-45G>A	19.37:g.54611747C>T						TFPT_ENST00000391758.1_Intron|TFPT_ENST00000391757.1_Intron|TFPT_ENST00000391759.1_Intron	p.A55_splice			O95167	NDUA3_HUMAN			4	174	+	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		55						Splice_Site	SNP	ENST00000391759.1	37	c.163_splice	CCDS12878.1	.	.	.	.	.	.	.	.	.	.	C	0.107	-1.144101	0.01728	.	.	ENSG00000170906	ENST00000391764	.	.	.	3.55	-2.12	0.07165	.	.	.	.	.	T	0.17831	0.0428	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25047	-1.0143	4	.	.	.	.	0.4546	0.00507	0.197:0.3444:0.1936:0.2651	.	.	.	.	V	55	.	.	A	+	2	0	NDUFA3	59303559	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.361000	0.02597	-0.065000	0.13021	-0.182000	0.12963	GCG		0.597	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	NM_013342		13	42	0	0	0	1	0	13	42				
CACNA1B	774	broad.mit.edu	37	9	140911612	140911612	+	Intron	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:140911612T>C	ENST00000371372.1	+	18	2412				CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000277550.3_Silent_p.G54G	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGCTCGAGGTACTGTATCTC	0.473																																						ENST00000277550.3																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(160-162)ggT>ggC		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						63.0	62.0	62.0					9																	140911612		876	1991	2867	SO:0001627	intron_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140911612T>C	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2267+3925T>C	9.37:g.140911612T>C						CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000371363.1_Intron|CACNA1B_ENST00000371372.1_Intron|CACNA1B_ENST00000371355.4_Intron	p.G54G			Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	3	162	+	all_cancers(76;0.166)		761					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.162T>C	CCDS59522.1																																																																																				0.473	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		4	37	0	0	0	1	0	4	37				
ING1	3621	broad.mit.edu	37	13	111371616	111371616	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:111371616T>C	ENST00000375774.3	+	2	1068	c.606T>C	c.(604-606)agT>agC	p.S202S	ING1_ENST00000333219.7_Silent_p.S59S|ING1_ENST00000338450.7_Silent_p.S15S|ING1_ENST00000375775.3_5'UTR|ING1_ENST00000464141.1_3'UTR	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	202					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGCGCTTCAGTCGCGAGACAG	0.647																																						ENST00000375774.3																			0				endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(604-606)agT>agC		inhibitor of growth family, member 1							48.0	51.0	50.0					13																	111371616		2201	4294	6495	SO:0001819	synonymous_variant	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111371616T>C		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.606T>C	13.37:g.111371616T>C						ING1_ENST00000464141.1_3'UTR|ING1_ENST00000338450.7_Silent_p.S15S|ING1_ENST00000333219.7_Silent_p.S59S|ING1_ENST00000375775.3_5'UTR	p.S202S	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		2	1068	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		202					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	ENST00000375774.3	37	c.606T>C	CCDS9517.1																																																																																				0.647	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		35	89	0	0	0	1	0	35	89				
NPAT	4863	broad.mit.edu	37	11	108032395	108032395	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:108032395T>C	ENST00000278612.8	-	17	3523	c.3418A>G	c.(3418-3420)Acc>Gcc	p.T1140A		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1140					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCTCTTATGGTGGTATGCCGG	0.373																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(3418-3420)Acc>Gcc		nuclear protein, ataxia-telangiectasia locus							87.0	81.0	83.0					11																	108032395		1824	4075	5899	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108032395T>C	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3418A>G	11.37:g.108032395T>C	ENSP00000278612:p.Thr1140Ala						p.T1140A	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	17	3523	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1140					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.3418A>G	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.407166	0.00193	.	.	ENSG00000149308	ENST00000278612	T	0.03635	3.86	5.4	1.8	0.24995	.	0.370421	0.26780	N	0.022535	T	0.02230	0.0069	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47289	-0.9129	10	0.13853	T	0.58	-8.3675	3.6363	0.08150	0.187:0.4221:0.0:0.3909	.	1140	Q14207	NPAT_HUMAN	A	1140	ENSP00000278612:T1140A	ENSP00000278612:T1140A	T	-	1	0	NPAT	107537605	0.933000	0.31639	0.147000	0.22382	0.002000	0.02628	0.171000	0.16685	0.490000	0.27771	-0.280000	0.10049	ACC		0.373	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		8	95	0	0	0	1	0	8	95				
C8orf31	286122	broad.mit.edu	37	8	144124506	144124506	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:144124506T>C	ENST00000395172.1	+	2	438		c.e2+2		C8orf31_ENST00000517653.1_Intron	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31											breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGACAGAGGGTAGGCCTGCGG	0.612																																						ENST00000395172.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10						c.e2+2		chromosome 8 open reading frame 31							62.0	66.0	64.0					8																	144124506		2203	4300	6503	SO:0001630	splice_region_variant	286122							g.chr8:144124506T>C		CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.86+2T>C	8.37:g.144124506T>C						C8orf31_ENST00000517653.1_Intron		NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN			2	438	+	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)							Q6GMU7	Splice_Site	SNP	ENST00000395172.1	37		CCDS6395.1	.	.	.	.	.	.	.	.	.	.	t	0.902	-0.722014	0.03182	.	.	ENSG00000177335	ENST00000395172	.	.	.	1.41	-0.668	0.11392	.	.	.	.	.	.	.	.	.	.	.	0.21220	N	0.999757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.0618	0.03594	0.2178:0.0:0.4479:0.3342	.	.	.	.	.	-1	.	.	.	+	.	.	C8orf31	144195881	0.013000	0.17824	0.000000	0.03702	0.000000	0.00434	-0.227000	0.09126	-0.222000	0.09958	-0.796000	0.03273	.		0.612	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1	NM_173687	Intron	23	108	0	0	0	1	0	23	108				
HSPBAP1	79663	broad.mit.edu	37	3	122487712	122487712	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:122487712T>C	ENST00000306103.2	-	3	411	c.268A>G	c.(268-270)Aca>Gca	p.T90A	HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000383659.1_Missense_Mutation_p.T90A	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	90	Interaction with HSPB1. {ECO:0000250}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TAATTACATGTAGTTTCAAAC	0.318																																						ENST00000383659.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(268-270)Aca>Gca		HSPB (heat shock 27kDa) associated protein 1							60.0	59.0	59.0					3																	122487712		2203	4300	6503	SO:0001583	missense	79663					cytoplasm		g.chr3:122487712T>C	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.268A>G	3.37:g.122487712T>C	ENSP00000302562:p.Thr90Ala					HSPBAP1_ENST00000306103.2_Missense_Mutation_p.T90A|HSPBAP1_ENST00000465044.1_5'UTR	p.T90A			Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	3	390	-			90			Interaction with HSPB1 (By similarity).		Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	37	c.268A>G	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	T	3.413	-0.119834	0.06838	.	.	ENSG00000169087	ENST00000383659;ENST00000306103	T;T	0.71341	-0.56;2.02	4.98	-4.86	0.03132	.	1.111260	0.06503	N	0.736628	T	0.39009	0.1062	N	0.05124	-0.11	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.23476	-1.0187	10	0.10902	T	0.67	.	3.4704	0.07565	0.3828:0.2221:0.0:0.3951	.	90;90	Q96EW2-2;Q96EW2	.;HBAP1_HUMAN	A	90	ENSP00000373155:T90A;ENSP00000302562:T90A	ENSP00000302562:T90A	T	-	1	0	HSPBAP1	123970402	0.000000	0.05858	0.066000	0.19879	0.984000	0.73092	-0.327000	0.07955	-0.621000	0.05633	0.533000	0.62120	ACA		0.318	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		9	32	0	0	0	1	0	9	32				
LOXL2	4017	broad.mit.edu	37	8	23225645	23225645	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:23225645C>T	ENST00000389131.3	-	2	589	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	74	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCATAGTACACCTCCACCCGG	0.657																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(220-222)Gtg>Atg		lysyl oxidase-like 2							88.0	70.0	76.0					8																	23225645		2203	4300	6503	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23225645C>T	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.220G>A	8.37:g.23225645C>T	ENSP00000373783:p.Val74Met						p.V74M	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	2	589	-		Prostate(55;0.0453)|Breast(100;0.143)	74			SRCR 1.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.220G>A	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114643	0.77210	.	.	ENSG00000134013	ENST00000389131;ENST00000524144;ENST00000520871;ENST00000518083;ENST00000524168;ENST00000519243	T;T;T;T;T;T	0.52057	0.8;0.8;0.8;0.8;0.68;0.68	5.5	3.56	0.40772	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.112212	0.64402	D	0.000013	T	0.68970	0.3059	M	0.85299	2.745	0.54753	D	0.999989	D	0.76494	0.999	D	0.72338	0.977	T	0.74680	-0.3584	10	0.87932	D	0	.	11.8707	0.52519	0.1357:0.7329:0.1313:0.0	.	74	Q9Y4K0	LOXL2_HUMAN	M	74;155;115;74;74;74	ENSP00000373783:V74M;ENSP00000427883:V155M;ENSP00000429778:V115M;ENSP00000430519:V74M;ENSP00000428497:V74M;ENSP00000428933:V74M	ENSP00000373783:V74M	V	-	1	0	LOXL2	23281590	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	3.182000	0.50910	1.401000	0.46761	0.563000	0.77884	GTG		0.657	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			33	113	0	0	0	1	0	33	113				
WNT9B	7484	broad.mit.edu	37	17	44954067	44954067	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:44954067T>C	ENST00000290015.2	+	4	1110	c.1057T>C	c.(1057-1059)Tac>Cac	p.Y353H	WNT9B_ENST00000393461.2_Intron	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	353					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GGAGCTTGTGTACACCTGCAA	0.632																																						ENST00000290015.2																			0				large_intestine(2)|lung(8)	10						c.(1057-1059)Tac>Cac		wingless-type MMTV integration site family, member 9B							33.0	30.0	31.0					17																	44954067		2203	4300	6503	SO:0001583	missense	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44954067T>C	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.1057T>C	17.37:g.44954067T>C	ENSP00000290015:p.Tyr353His					WNT9B_ENST00000393461.2_Intron	p.Y353H	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		4	1110	+			353					Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	c.1057T>C	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	T	17.82	3.483171	0.63962	.	.	ENSG00000158955	ENST00000376843;ENST00000290015	T	0.75704	-0.96	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.74711	0.3752	L	0.28556	0.865	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.69658	-0.5086	10	0.02654	T	1	.	14.279	0.66199	0.0:0.0:0.0:1.0	.	353	O14905	WNT9B_HUMAN	H	347;353	ENSP00000290015:Y353H	ENSP00000290015:Y353H	Y	+	1	0	WNT9B	42309066	1.000000	0.71417	0.990000	0.47175	0.975000	0.68041	7.865000	0.87049	2.037000	0.60232	0.459000	0.35465	TAC		0.632	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		6	33	0	0	0	1	0	6	33				
BRD8	10902	broad.mit.edu	37	5	137501707	137501707	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:137501707A>G	ENST00000254900.5	-	11	1459	c.1088T>C	c.(1087-1089)aTc>aCc	p.I363T	BRD8_ENST00000515014.1_5'Flank|BRD8_ENST00000230901.5_Missense_Mutation_p.I436T|BRD8_ENST00000402931.1_Missense_Mutation_p.I363T|BRD8_ENST00000455658.2_Missense_Mutation_p.I322T|BRD8_ENST00000411594.2_Missense_Mutation_p.I366T	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	363					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGAATTGATGATCATGGATAT	0.468																																						ENST00000254900.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(1087-1089)aTc>aCc		bromodomain containing 8							148.0	142.0	144.0					5																	137501707		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137501707A>G	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.1088T>C	5.37:g.137501707A>G	ENSP00000254900:p.Ile363Thr					BRD8_ENST00000230901.5_Missense_Mutation_p.I436T|BRD8_ENST00000455658.2_Missense_Mutation_p.I322T|BRD8_ENST00000411594.2_Missense_Mutation_p.I366T|BRD8_ENST00000402931.1_Missense_Mutation_p.I363T	p.I363T	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		11	1459	-			363					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.1088T>C	CCDS4198.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.91|16.91	3.252560|3.252560	0.59212|0.59212	.|.	.|.	ENSG00000112983|ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658;ENST00000453824|ENST00000441656	T;T;T;T;T;T;T|.	0.42513|.	1.54;0.97;1.26;1.16;1.34;1.25;1.33|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.166497|.	0.51477|.	D|.	0.000093|.	T|T	0.52741|0.52741	0.1753|0.1753	N|N	0.24115|0.24115	0.695|0.695	0.51482|0.51482	D|D	0.999922|0.999922	D;D;D;D;B;D;D;D|.	0.71674|.	0.998;0.997;0.993;0.993;0.234;0.996;0.996;0.997|.	D;D;D;D;B;P;D;D|.	0.81914|.	0.995;0.989;0.977;0.977;0.061;0.889;0.99;0.989|.	T|T	0.49351|0.49351	-0.8949|-0.8949	10|5	0.66056|.	D|.	0.02|.	-9.6879|-9.6879	15.2098|15.2098	0.73214|0.73214	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	322;347;142;436;366;257;436;363|.	F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9|.	.;.;.;.;.;.;.;BRD8_HUMAN|.	T|P	363;392;361;436;363;366;257;322;181|357	ENSP00000254900:I363T;ENSP00000398067:I392T;ENSP00000398873:I361T;ENSP00000230901:I436T;ENSP00000384845:I363T;ENSP00000394330:I366T;ENSP00000408396:I322T|.	ENSP00000230901:I436T|.	I|S	-|-	2|1	0|0	BRD8|BRD8	137529606|137529606	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	6.586000|6.586000	0.74067|0.74067	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	ATC|TCA		0.468	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		6	157	0	0	0	1	0	6	157				
SLC43A1	8501	broad.mit.edu	37	11	57256751	57256751	+	Silent	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:57256751G>T	ENST00000278426.3	-	12	1663	c.1308C>A	c.(1306-1308)acC>acA	p.T436T	SLC43A1_ENST00000528450.1_Silent_p.T436T|SLC43A1_ENST00000533515.1_5'Flank	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TGATGAGACAGGTGATGCCAA	0.552																																						ENST00000278426.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1306-1308)acC>acA		solute carrier family 43 (amino acid system L transporter), member 1							368.0	269.0	302.0					11																	57256751		2201	4296	6497	SO:0001819	synonymous_variant	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57256751G>T	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1308C>A	11.37:g.57256751G>T						SLC43A1_ENST00000528450.1_Silent_p.T436T	p.T436T	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN			12	1663	-			436						Silent	SNP	ENST00000278426.3	37	c.1308C>A	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	G	9.268	1.044844	0.19748	.	.	ENSG00000149150	ENST00000525764	.	.	.	4.81	1.9	0.25705	.	.	.	.	.	T	0.42720	0.1215	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23547	-1.0185	4	.	.	.	-23.3242	1.2894	0.02057	0.2551:0.1496:0.4413:0.154	.	.	.	.	H	139	.	.	P	-	2	0	SLC43A1	57013327	1.000000	0.71417	0.997000	0.53966	0.913000	0.54294	0.598000	0.24074	0.117000	0.18138	0.462000	0.41574	CCT		0.552	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627		36	84	1	0	4.62619e-21	1	4.88158e-21	36	84				
TAF9	6880	broad.mit.edu	37	5	68660866	68660866	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:68660866T>C	ENST00000328663.4	-	3	1165	c.699A>G	c.(697-699)tcA>tcG	p.S233S	TAF9_ENST00000506736.1_Silent_p.S233S|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000217893.5_Silent_p.S233S|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	233					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|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)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		CAGTATTTTGTGATGACATCA	0.338																																						ENST00000328663.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8						c.(697-699)tcA>tcG		TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa							133.0	120.0	124.0					5																	68660866		2203	4300	6503	SO:0001819	synonymous_variant	6880					Cajal body	adenylate kinase activity|ATP binding|protein binding	g.chr5:68660866T>C	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.699A>G	5.37:g.68660866T>C						TAF9_ENST00000380818.3_Intron|TAF9_ENST00000506736.1_Silent_p.S233S|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000217893.5_Silent_p.S233S|TAF9_ENST00000512561.1_Intron	p.S233S	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	3	1165	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	0					D3DWA3|Q5U0D1|Q9BTS1	Silent	SNP	ENST00000328663.4	37	c.699A>G	CCDS4002.1																																																																																				0.338	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187		16	56	0	0	0	1	0	16	56				
HGS	9146	broad.mit.edu	37	17	79661856	79661856	+	Silent	SNP	G	G	A	rs371235729		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:79661856G>A	ENST00000329138.4	+	12	1083	c.948G>A	c.(946-948)gcG>gcA	p.A316A		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	316	Interaction with SNX1. {ECO:0000250}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			ACTCGTCGGCGCCTCTGGCTG	0.612																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(946-948)gcG>gcA		hepatocyte growth factor-regulated tyrosine kinase substrate		G		1,4405	2.1+/-5.4	0,1,2202	148.0	128.0	135.0		948	-10.0	0.4	17		135	0,8600		0,0,4300	no	coding-synonymous	HGS	NM_004712.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		316/778	79661856	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79661856G>A	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.948G>A	17.37:g.79661856G>A							p.A316A	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		12	1083	+	all_neural(118;0.0878)|all_lung(278;0.23)		316			Interaction with SNX1 (By similarity).		Q9NR36	Silent	SNP	ENST00000329138.4	37	c.948G>A	CCDS11784.1																																																																																				0.612	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		4	117	0	0	0	1	0	4	117				
ERAP1	51752	broad.mit.edu	37	5	96112181	96112181	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:96112181A>G	ENST00000443439.2	-	19	2811	c.2745T>C	c.(2743-2745)atT>atC	p.I915I	ERAP1_ENST00000296754.3_Silent_p.I915I	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	915					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		TGTTTTCTTCAATGGTTTCAA	0.383																																						ENST00000296754.3																			0				endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19						c.(2743-2745)atT>atC		endoplasmic reticulum aminopeptidase 1							155.0	146.0	149.0					5																	96112181		2203	4300	6503	SO:0001819	synonymous_variant	51752				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding	g.chr5:96112181A>G	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.2745T>C	5.37:g.96112181A>G						ERAP1_ENST00000443439.2_Silent_p.I915I	p.I915I	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)	19	3002	-		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)	915					O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Silent	SNP	ENST00000443439.2	37	c.2745T>C	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	A	10.70	1.423472	0.25639	.	.	ENSG00000164307	ENST00000512852	.	.	.	5.83	-3.3	0.05003	.	.	.	.	.	T	0.63260	0.2496	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62172	-0.6910	4	.	.	.	.	13.9075	0.63845	0.4897:0.0:0.5103:0.0	.	.	.	.	S	94	.	.	L	-	2	0	ERAP1	96137937	0.215000	0.23574	0.976000	0.42696	0.997000	0.91878	-0.269000	0.08596	-0.610000	0.05716	0.533000	0.62120	TTG		0.383	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		13	95	0	0	0	1	0	13	95				
SLC44A1	23446	broad.mit.edu	37	9	108123609	108123609	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:108123609A>G	ENST00000374720.3	+	8	1145	c.898A>G	c.(898-900)Aca>Gca	p.T300A	SLC44A1_ENST00000343170.7_Missense_Mutation_p.T92A|SLC44A1_ENST00000374723.1_Missense_Mutation_p.T300A|SLC44A1_ENST00000374724.1_Missense_Mutation_p.T300A	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	300					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TACAGTGTTCACAGTGAGTTT	0.428																																						ENST00000374720.3																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(898-900)Aca>Gca		solute carrier family 44 (choline transporter), member 1	Choline(DB00122)						140.0	138.0	139.0					9																	108123609		2203	4300	6503	SO:0001583	missense	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108123609A>G	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.898A>G	9.37:g.108123609A>G	ENSP00000363852:p.Thr300Ala					SLC44A1_ENST00000374723.1_Missense_Mutation_p.T300A|SLC44A1_ENST00000343170.7_Missense_Mutation_p.T92A|SLC44A1_ENST00000374724.1_Missense_Mutation_p.T300A	p.T300A	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN			8	1145	+			300					A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	c.898A>G	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.879553	0.91740	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.40743	0.1129	L	0.61387	1.9	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.977	D;D;P	0.64506	0.926;0.926;0.602	T	0.11251	-1.0595	10	0.17369	T	0.5	-1.7889	16.3317	0.83023	1.0:0.0:0.0:0.0	.	300;300;300	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	A	300;300;300;92	ENSP00000363855:T300A;ENSP00000363852:T300A;ENSP00000363856:T300A;ENSP00000341856:T92A	ENSP00000341856:T92A	T	+	1	0	SLC44A1	107163430	1.000000	0.71417	0.999000	0.59377	0.841000	0.47740	8.627000	0.90974	2.264000	0.75181	0.533000	0.62120	ACA		0.428	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		30	101	0	0	0	1	0	30	101				
ACTL8	81569	broad.mit.edu	37	1	18149520	18149520	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:18149520T>C	ENST00000375406.1	+	2	233	c.17T>C	c.(16-18)gTt>gCt	p.V6A		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	6					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCAAGAACCGTTATCATTGAC	0.577																																						ENST00000375406.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(16-18)gTt>gCt		actin-like 8							44.0	40.0	41.0					1																	18149520		2203	4300	6503	SO:0001583	missense	81569					cytoplasm|cytoskeleton		g.chr1:18149520T>C	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.17T>C	1.37:g.18149520T>C	ENSP00000364555:p.Val6Ala						p.V6A	NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	2	233	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	6					Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	c.17T>C	CCDS183.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.517589	0.64634	.	.	ENSG00000117148	ENST00000375406	D	0.97888	-4.59	5.57	4.43	0.53597	.	0.393312	0.18920	N	0.127506	D	0.95211	0.8447	L	0.43554	1.36	0.09310	N	1	B	0.18863	0.031	B	0.21546	0.035	D	0.90797	0.4691	10	0.87932	D	0	-19.0441	10.0573	0.42252	0.0:0.0827:0.0:0.9173	.	6	Q9H568	ACTL8_HUMAN	A	6	ENSP00000364555:V6A	ENSP00000364555:V6A	V	+	2	0	ACTL8	18022107	1.000000	0.71417	0.021000	0.16686	0.276000	0.26787	5.252000	0.65445	2.117000	0.64856	0.533000	0.62120	GTT		0.577	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		8	32	0	0	0	1	0	8	32				
GABRE	2564	broad.mit.edu	37	X	151128335	151128335	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:151128335T>C	ENST00000370328.3	-	6	813	c.760A>G	c.(760-762)Act>Gct	p.T254A	GABRE_ENST00000393914.3_Missense_Mutation_p.T61A|MIR452_ENST00000385020.1_RNA|MIR224_ENST00000384889.1_RNA|GABRE_ENST00000370325.1_Missense_Mutation_p.T254A	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	254					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATTATTTCAGTTTTGTTGCTC	0.443																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(760-762)Act>Gct		gamma-aminobutyric acid (GABA) A receptor, epsilon							120.0	111.0	114.0					X																	151128335		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151128335T>C	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.760A>G	X.37:g.151128335T>C	ENSP00000359353:p.Thr254Ala					GABRE_ENST00000393914.3_Missense_Mutation_p.T61A|GABRE_ENST00000370328.3_Missense_Mutation_p.T254A	p.T254A			P78334	GBRE_HUMAN			6	813	-	Acute lymphoblastic leukemia(192;6.56e-05)		254					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.760A>G	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.032939	0.54790	.	.	ENSG00000102287	ENST00000370328;ENST00000370325;ENST00000393914	T;T	0.77750	-1.12;-1.12	5.52	4.21	0.49690	Neurotransmitter-gated ion-channel ligand-binding (3);	0.270706	0.26149	N	0.026054	D	0.82540	0.5059	L	0.49256	1.55	0.32279	N	0.567776	D	0.76494	0.999	D	0.83275	0.996	D	0.84297	0.0503	10	0.72032	D	0.01	.	8.4732	0.32997	0.2186:0.0:0.0:0.7814	.	254	P78334	GBRE_HUMAN	A	254;254;61	ENSP00000359353:T254A;ENSP00000359350:T254A	ENSP00000359350:T254A	T	-	1	0	GABRE	150878991	0.057000	0.20700	0.556000	0.28293	0.713000	0.41058	0.344000	0.19962	1.952000	0.56665	0.486000	0.48141	ACT		0.443	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		44	44	0	0	0	1	0	44	44				
PCDHGB3	56102	broad.mit.edu	37	5	140752069	140752069	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140752069T>A	ENST00000576222.1	+	1	2239	c.2108T>A	c.(2107-2109)tTc>tAc	p.F703Y	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	703					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGTGCTCTTCCTCCTCGCG	0.582																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(2107-2109)tTc>tAc									84.0	92.0	90.0					5																	140752069		2076	4229	6305	SO:0001583	missense	56102							g.chr5:140752069T>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2108T>A	5.37:g.140752069T>A	ENSP00000461862:p.Phe703Tyr					PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	p.F703Y	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2239	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.2108T>A	CCDS58980.1																																																																																				0.582	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		6	165	0	0	0	1	0	6	165				
AGXT	189	broad.mit.edu	37	2	241808594	241808594	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:241808594A>G	ENST00000307503.3	+	2	560	c.173A>G	c.(172-174)gAc>gGc	p.D58G		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	58					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	CAGATCATGGACGAGATCAAG	0.622																																						ENST00000307503.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18						c.(172-174)gAc>gGc		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						137.0	114.0	122.0					2																	241808594		2203	4300	6503	SO:0001583	missense	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241808594A>G	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.173A>G	2.37:g.241808594A>G	ENSP00000302620:p.Asp58Gly						p.D58G	NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	2	560	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	58					Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	37	c.173A>G	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153857	0.57259	.	.	ENSG00000172482	ENST00000307503	D	0.86694	-2.16	4.13	4.13	0.48395	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.211176	0.48767	D	0.000180	D	0.89605	0.6763	M	0.74258	2.255	0.80722	D	1	P;P	0.34955	0.477;0.477	P;P	0.45506	0.483;0.483	D	0.90007	0.4118	10	0.54805	T	0.06	-15.5187	13.4491	0.61161	1.0:0.0:0.0:0.0	.	58;58	B7Z548;P21549	.;SPYA_HUMAN	G	58	ENSP00000302620:D58G	ENSP00000302620:D58G	D	+	2	0	AGXT	241457267	1.000000	0.71417	0.946000	0.38457	0.448000	0.32197	4.702000	0.61817	1.642000	0.50584	0.402000	0.26972	GAC		0.622	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		5	119	0	0	0	1	0	5	119				
INO80	54617	broad.mit.edu	37	15	41364187	41364187	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:41364187T>C	ENST00000361937.3	-	12	1889	c.1465A>G	c.(1465-1467)Act>Gct	p.T489A	INO80_ENST00000401393.3_Missense_Mutation_p.T489A			Q9ULG1	INO80_HUMAN	INO80 complex subunit	489	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCAAACCCAGTGCCAGACTTG	0.423																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1465-1467)Act>Gct		INO80 complex subunit							85.0	93.0	90.0					15																	41364187		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41364187T>C	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1465A>G	15.37:g.41364187T>C	ENSP00000355205:p.Thr489Ala					INO80_ENST00000401393.3_Missense_Mutation_p.T489A	p.T489A			Q9ULG1	INO80_HUMAN			12	1889	-			489			Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.1465A>G	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	T	11.69	1.714914	0.30413	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.90900	-2.75;-2.75	4.94	3.7	0.42460	.	0.187911	0.47852	D	0.000203	T	0.76863	0.4047	N	0.08118	0	0.26817	N	0.968875	B	0.16802	0.019	B	0.12837	0.008	T	0.60260	-0.7298	10	0.10111	T	0.7	.	9.154	0.36980	0.3626:0.0:0.0:0.6374	.	489	Q9ULG1	INO80_HUMAN	A	489	ENSP00000355205:T489A;ENSP00000384686:T489A	ENSP00000355205:T489A	T	-	1	0	INO80	39151479	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.861000	0.56002	0.747000	0.32809	0.529000	0.55759	ACT		0.423	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		11	128	0	0	0	1	0	11	128				
ATP1A2	477	broad.mit.edu	37	1	160098602	160098602	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:160098602A>T	ENST00000361216.3	+	9	1267	c.1178A>T	c.(1177-1179)aAc>aTc	p.N393I	ATP1A2_ENST00000392233.3_Missense_Mutation_p.N393I	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	393					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGTTCGACAACCAAATCCAT	0.612																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(1177-1179)aAc>aTc		ATPase, Na+/K+ transporting, alpha 2 polypeptide							106.0	83.0	91.0					1																	160098602		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098602A>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1178A>T	1.37:g.160098602A>T	ENSP00000354490:p.Asn393Ile					ATP1A2_ENST00000392233.3_Missense_Mutation_p.N393I|ATP1A2_ENST00000472488.1_3'UTR	p.N393I	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1267	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		393					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.1178A>T	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.25|17.25	3.342952|3.342952	0.61073|0.61073	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233;ENST00000435866|ENST00000447527	T;T|.	0.80480|.	-1.38;-1.38|.	4.53|4.53	4.53|4.53	0.55603|0.55603	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58906|0.58906	0.2155|0.2155	L|L	0.60957|0.60957	1.885|1.885	0.54753|0.54753	D|D	0.999989|0.999989	B;P;P;P|.	0.42375|.	0.336;0.711;0.778;0.711|.	B;P;P;P|.	0.57911|.	0.348;0.829;0.648;0.829|.	T|T	0.60306|0.60306	-0.7289|-0.7289	10|5	0.72032|.	D|.	0.01|.	.|.	13.1634|13.1634	0.59557|0.59557	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	238;393;293;393|.	B4DHD7;B1AKY9;F5GXJ7;P50993|.	.;.;.;AT1A2_HUMAN|.	I|S	238;393;393;96|104	ENSP00000354490:N393I;ENSP00000376066:N393I|.	ENSP00000354490:N393I|.	N|T	+|+	2|1	0|0	ATP1A2|ATP1A2	158365226|158365226	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.476000|7.476000	0.81055|0.81055	1.820000|1.820000	0.53075|0.53075	0.459000|0.459000	0.35465|0.35465	AAC|ACC		0.612	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		27	67	0	0	0	1	0	27	67				
DAPK1	1612	broad.mit.edu	37	9	90322130	90322130	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:90322130G>A	ENST00000408954.3	+	26	4479	c.4144G>A	c.(4144-4146)Gag>Aag	p.E1382K	DAPK1_ENST00000491893.1_Missense_Mutation_p.E1316K|DAPK1_ENST00000472284.1_Missense_Mutation_p.E1382K|DAPK1_ENST00000469640.2_Missense_Mutation_p.E1407K|DAPK1_ENST00000358077.5_Missense_Mutation_p.E1382K	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1382	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CAAACTGAGGGAGCTGGGTCG	0.607									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(4219-4221)Gag>Aag		death-associated protein kinase 1							34.0	37.0	36.0					9																	90322130		1918	4120	6038	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90322130G>A	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.4144G>A	9.37:g.90322130G>A	ENSP00000386135:p.Glu1382Lys					DAPK1_ENST00000472284.1_Missense_Mutation_p.E1382K|DAPK1_ENST00000408954.3_Missense_Mutation_p.E1382K|DAPK1_ENST00000358077.5_Missense_Mutation_p.E1382K|DAPK1_ENST00000491893.1_Missense_Mutation_p.E1316K	p.E1407K			P53355	DAPK1_HUMAN			27	4594	+			1382					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.4219G>A	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131041	0.94473	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	5.84	5.84	0.93424	Death (3);DEATH-like (2);	0.000000	0.52532	D	0.000071	D	0.89033	0.6600	L	0.42245	1.32	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.83275	0.992;0.996;0.992	D	0.89247	0.3588	10	0.87932	D	0	.	20.1434	0.98067	0.0:0.0:1.0:0.0	.	1316;1382;1382	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	K	1382;1382;1407;1382;1316	ENSP00000350785:E1382K;ENSP00000417076:E1382K;ENSP00000418885:E1407K;ENSP00000386135:E1382K;ENSP00000419026:E1316K	ENSP00000350785:E1382K	E	+	1	0	DAPK1	89511950	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.845000	0.99498	2.769000	0.95229	0.563000	0.77884	GAG		0.607	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		9	35	0	0	0	1	0	9	35				
DCAF16	54876	broad.mit.edu	37	4	17805713	17805713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:17805713C>A	ENST00000382247.1	-	3	1112	c.52G>T	c.(52-54)Gaa>Taa	p.E18*	DCAF16_ENST00000507768.1_5'Flank|DCAF16_ENST00000536863.1_Nonsense_Mutation_p.E18*	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	18	Poly-Glu.				protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						TTTTCTTCTTCCTCACTTTCT	0.423																																						ENST00000382247.1																			0				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(52-54)Gaa>Taa		DDB1 and CUL4 associated factor 16							51.0	53.0	53.0					4																	17805713		2203	4300	6503	SO:0001587	stop_gained	54876					CUL4 RING ubiquitin ligase complex		g.chr4:17805713C>A	AK000287	CCDS3423.1	4p15.32	2009-07-17	2009-07-17	2009-07-17	ENSG00000163257	ENSG00000163257		"""DDB1 and CUL4 associated factors"""	25987	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 30"""	C4orf30		12477932	Standard	XM_005248169		Approved	FLJ20280	uc003gpn.3	Q9NXF7	OTTHUMG00000128536	ENST00000382247.1:c.52G>T	4.37:g.17805713C>A	ENSP00000371682:p.Glu18*					DCAF16_ENST00000536863.1_Nonsense_Mutation_p.E18*	p.E18*	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN			3	1112	-			18			Poly-Glu.		B3KPB7	Nonsense_Mutation	SNP	ENST00000382247.1	37	c.52G>T	CCDS3423.1	.	.	.	.	.	.	.	.	.	.	C	40	7.977335	0.98591	.	.	ENSG00000163257	ENST00000382247;ENST00000536863	.	.	.	3.59	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.6153	11.0365	0.47804	0.0:1.0:0.0:0.0	.	.	.	.	X	18	.	ENSP00000371682:E18X	E	-	1	0	DCAF16	17414811	0.990000	0.36364	0.998000	0.56505	0.027000	0.11550	0.427000	0.21379	2.312000	0.78011	0.561000	0.74099	GAA		0.423	DCAF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250371.1	NM_017741		7	38	1	0	0.00307968	1	0.00310584	7	38				
CMYA5	202333	broad.mit.edu	37	5	79033127	79033127	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:79033127A>G	ENST00000446378.2	+	2	8570	c.8539A>G	c.(8539-8541)Aca>Gca	p.T2847A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2847					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAAGGCATACAGTTCATAC	0.423																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(8539-8541)Aca>Gca		cardiomyopathy associated 5							84.0	81.0	82.0					5																	79033127		1920	4126	6046	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79033127A>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8539A>G	5.37:g.79033127A>G	ENSP00000394770:p.Thr2847Ala						p.T2847A	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	8570	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2847					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.8539A>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	8.442	0.851077	0.17034	.	.	ENSG00000164309	ENST00000446378	T	0.39406	1.08	5.63	1.81	0.25067	.	0.349556	0.25001	N	0.033911	T	0.31040	0.0784	M	0.65975	2.015	0.09310	N	1	B	0.32829	0.386	B	0.23150	0.044	T	0.15925	-1.0420	10	0.21014	T	0.42	.	5.8543	0.18710	0.6736:0.0:0.069:0.2574	.	2847	Q8N3K9	CMYA5_HUMAN	A	2847	ENSP00000394770:T2847A	ENSP00000394770:T2847A	T	+	1	0	CMYA5	79068883	0.020000	0.18652	0.004000	0.12327	0.180000	0.23129	0.925000	0.28791	0.129000	0.18514	0.533000	0.62120	ACA		0.423	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		34	78	0	0	0	1	0	34	78				
CHRNG	1146	broad.mit.edu	37	2	233408002	233408002	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:233408002A>G	ENST00000389494.3	+	8	844	c.823A>G	c.(823-825)Acc>Gcc	p.T275A	CHRNG_ENST00000389492.3_Missense_Mutation_p.T223A	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	275					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CCAGAAGTGTACCGTCGCCAT	0.597																																						ENST00000389494.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22						c.(823-825)Acc>Gcc		cholinergic receptor, nicotinic, gamma (muscle)							89.0	84.0	86.0					2																	233408002		2203	4300	6503	SO:0001583	missense	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233408002A>G	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.823A>G	2.37:g.233408002A>G	ENSP00000374145:p.Thr275Ala					CHRNG_ENST00000389492.3_Missense_Mutation_p.T223A	p.T275A	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	8	844	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	275					B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	c.823A>G	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.837058	0.71373	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	D;D	0.86097	-2.07;-2.07	5.61	3.22	0.36961	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.121738	0.56097	D	0.000036	D	0.88934	0.6572	M	0.77406	2.37	0.50813	D	0.999897	B;B	0.28291	0.175;0.206	B;P	0.47102	0.163;0.537	D	0.87626	0.2513	10	0.87932	D	0	.	7.9285	0.29889	0.7902:0.1387:0.071:0.0	.	223;275	Q14DU4;P07510	.;ACHG_HUMAN	A	275;275;223	ENSP00000374145:T275A;ENSP00000374143:T223A	ENSP00000374143:T223A	T	+	1	0	CHRNG	233116246	1.000000	0.71417	0.883000	0.34634	0.971000	0.66376	6.243000	0.72384	0.932000	0.37266	0.379000	0.24179	ACC		0.597	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		14	50	0	0	0	1	0	14	50				
SLC9A9	285195	broad.mit.edu	37	3	143185960	143185960	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:143185960G>A	ENST00000316549.6	-	12	1596	c.1388C>T	c.(1387-1389)aCc>aTc	p.T463I		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	463					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CAGCGTAGTGGTAAACATCAT	0.478																																						ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1387-1389)aCc>aTc		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							159.0	132.0	141.0					3																	143185960		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143185960G>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1388C>T	3.37:g.143185960G>A	ENSP00000320246:p.Thr463Ile						p.T463I	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN			12	1596	-			463					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1388C>T	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486896	0.84854	.	.	ENSG00000181804	ENST00000316549	T	0.29917	1.55	5.71	4.83	0.62350	Cation/H+ exchanger (1);	0.070080	0.64402	D	0.000016	T	0.54743	0.1877	M	0.92026	3.265	0.50039	D	0.999846	P	0.51933	0.949	P	0.50314	0.637	T	0.69285	-0.5185	10	0.87932	D	0	.	16.4263	0.83815	0.0:0.2471:0.7528:0.0	.	463	Q8IVB4	SL9A9_HUMAN	I	463	ENSP00000320246:T463I	ENSP00000320246:T463I	T	-	2	0	SLC9A9	144668650	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.397000	0.73239	1.418000	0.47098	0.655000	0.94253	ACC		0.478	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		18	39	0	0	0	1	0	18	39				
ABCA13	154664	broad.mit.edu	37	7	48318466	48318466	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:48318466T>C	ENST00000435803.1	+	18	7699	c.7675T>C	c.(7675-7677)Tat>Cat	p.Y2559H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2559					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGACACTCTGTATTCCATCAT	0.318																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7675-7677)Tat>Cat		ATP-binding cassette, sub-family A (ABC1), member 13							93.0	97.0	96.0					7																	48318466		1830	4075	5905	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48318466T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7675T>C	7.37:g.48318466T>C	ENSP00000411096:p.Tyr2559His						p.Y2559H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	7699	+			2559					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7675T>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	9.887	1.203177	0.22121	.	.	ENSG00000179869	ENST00000435803	T	0.70516	-0.49	4.93	3.77	0.43336	.	0.710005	0.12202	N	0.490155	T	0.73434	0.3586	L	0.32530	0.975	0.09310	N	0.999997	D	0.69078	0.997	D	0.65573	0.936	T	0.60571	-0.7237	10	0.87932	D	0	.	7.4853	0.27429	0.0:0.099:0.0:0.901	.	2559	Q86UQ4	ABCAD_HUMAN	H	2559	ENSP00000411096:Y2559H	ENSP00000411096:Y2559H	Y	+	1	0	ABCA13	48289012	0.509000	0.26163	0.002000	0.10522	0.071000	0.16799	3.580000	0.53907	0.739000	0.32628	-0.290000	0.09829	TAT		0.318	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		41	115	0	0	0	1	0	41	115				
SDPR	8436	broad.mit.edu	37	2	192711277	192711277	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:192711277C>T	ENST00000304141.4	-	1	704	c.375G>A	c.(373-375)acG>acA	p.T125T	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			TGACCGCGCGCGTGTGGGCGC	0.602																																						ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(373-375)acG>acA		serum deprivation response	Phosphatidylserine(DB00144)						73.0	66.0	68.0					2																	192711277		2203	4300	6503	SO:0001819	synonymous_variant	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192711277C>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.375G>A	2.37:g.192711277C>T						AC098617.1_ENST00000424116.2_RNA	p.T125T	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		1	704	-			125						Silent	SNP	ENST00000304141.4	37	c.375G>A	CCDS2313.1																																																																																				0.602	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		27	50	0	0	0	1	0	27	50				
RBM38	55544	broad.mit.edu	37	20	55982757	55982757	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:55982757A>G	ENST00000356208.5	+	4	750	c.575A>G	c.(574-576)tAc>tGc	p.Y192C	RBM38_ENST00000371219.2_Missense_Mutation_p.Y111C|RBM38_ENST00000440234.2_3'UTR	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	192					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell cycle (GO:0007049)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|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)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|regulation of myotube differentiation (GO:0010830)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CAGTACCCATACGCCGCCTCG	0.706																																						ENST00000356208.5																			0				large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(574-576)tAc>tGc		RNA binding motif protein 38							19.0	25.0	23.0					20																	55982757		2077	4187	6264	SO:0001583	missense	55544				3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding	g.chr20:55982757A>G	X75314	CCDS46617.1, CCDS46618.1	20q13.31	2013-02-12	2006-07-11	2006-07-11	ENSG00000132819	ENSG00000132819		"""RNA binding motif (RRM) containing"""	15818	protein-coding gene	gene with protein product		612428	"""RNA-binding region (RNP1, RRM) containing 1"""	RNPC1			Standard	NM_017495		Approved	HSRNASEB, SEB4D, seb4B, dJ800J21.2	uc010zzj.2	Q9H0Z9	OTTHUMG00000032820	ENST00000356208.5:c.575A>G	20.37:g.55982757A>G	ENSP00000348538:p.Tyr192Cys					RBM38_ENST00000371219.2_Missense_Mutation_p.Y111C|RBM38_ENST00000440234.2_3'UTR	p.Y192C	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)		4	750	+	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		192					A6NDK1|A6NMU6|Q15350|Q15351|Q9BYK3|Q9BYK4	Missense_Mutation	SNP	ENST00000356208.5	37	c.575A>G	CCDS46617.1	.	.	.	.	.	.	.	.	.	.	A	15.11	2.735065	0.48939	.	.	ENSG00000132819	ENST00000356208;ENST00000371219	T;T	0.50001	0.76;0.76	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.65080	0.2657	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.65405	-0.6176	10	0.39692	T	0.17	2.8873	14.1824	0.65583	1.0:0.0:0.0:0.0	.	192	Q9H0Z9	RBM38_HUMAN	C	192;111	ENSP00000348538:Y192C;ENSP00000360263:Y111C	ENSP00000348538:Y192C	Y	+	2	0	RBM38	55416163	1.000000	0.71417	0.622000	0.29159	0.086000	0.17979	6.089000	0.71384	1.825000	0.53177	0.379000	0.24179	TAC		0.706	RBM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079843.4	NM_183425		14	47	0	0	0	1	0	14	47				
CMIP	80790	broad.mit.edu	37	16	81730216	81730216	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:81730216C>T	ENST00000537098.3	+	14	1654	c.1582C>T	c.(1582-1584)Ctc>Ttc	p.L528F	CMIP_ENST00000539778.2_Missense_Mutation_p.L434F|CMIP_ENST00000398040.4_Missense_Mutation_p.L375F|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	528						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						CTGGTTCCAGCTCTACAGCCC	0.652																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(1582-1584)Ctc>Ttc		c-Maf inducing protein							35.0	40.0	38.0					16																	81730216		2034	4180	6214	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81730216C>T	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1582C>T	16.37:g.81730216C>T	ENSP00000446100:p.Leu528Phe					CMIP_ENST00000539778.2_Missense_Mutation_p.L434F|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.L375F	p.L528F	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			14	1654	+			494					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.1582C>T	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720360	0.89205	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T;T	0.35605	2.81;2.81;1.3	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.997;0.998	D;D;D;D	0.85130	0.997;0.991;0.991;0.986	T	0.46303	-0.9201	10	0.87932	D	0	.	12.6966	0.57008	0.0:0.9248:0.0:0.0752	.	341;375;434;528	B7Z942;Q8IY22-3;Q8IY22-2;Q8IY22	.;.;.;CMIP_HUMAN	F	528;434;434;341	ENSP00000446100:L528F;ENSP00000440401:L434F;ENSP00000381120:L434F	ENSP00000381120:L434F	L	+	1	0	CMIP	80287717	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.791000	0.55469	2.575000	0.86900	0.462000	0.41574	CTC		0.652	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		4	52	0	0	0	1	0	4	52				
OPCML	4978	broad.mit.edu	37	11	132527055	132527055	+	Silent	SNP	G	G	A	rs144949245		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:132527055G>A	ENST00000331898.7	-	2	905	c.327C>T	c.(325-327)gaC>gaT	p.D109D	OPCML_ENST00000541867.1_Silent_p.D109D|OPCML_ENST00000524381.1_Silent_p.D102D|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Silent_p.D68D	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	109	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		ACGGACCTTCGTCATACACAT	0.507													g|||	1	0.000199681	0.0	0.0	5008	,	,		22162	0.0		0.0	False		,,,				2504	0.001					ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(325-327)gaC>gaT		opioid binding protein/cell adhesion molecule-like		G	,	1,4401	2.1+/-5.4	0,1,2200	249.0	193.0	212.0		306,327	-11.7	0.6	11	dbSNP_134	212	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	OPCML	NM_001012393.1,NM_002545.3	,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,	102/339,109/346	132527055	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132527055G>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.327C>T	11.37:g.132527055G>A						OPCML_ENST00000524381.1_Silent_p.D102D|OPCML_ENST00000374778.4_Silent_p.D68D|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.D109D	p.D109D	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	2	905	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	109			Ig-like C2-type 1.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	ENST00000331898.7	37	c.327C>T	CCDS8492.1																																																																																				0.507	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		25	64	0	0	0	1	0	25	64				
PRSS16	10279	broad.mit.edu	37	6	27216987	27216987	+	Missense_Mutation	SNP	G	G	A	rs145240806		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:27216987G>A	ENST00000230582.3	+	4	461	c.446G>A	c.(445-447)cGc>cAc	p.R149H	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	149					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCCAGCTCCGCTTCTTGTCC	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18411	0.0		0.0	False		,,,				2504	0.0				NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(445-447)cGc>cAc		protease, serine, 16 (thymus)		G	HIS/ARG	0,4406		0,0,2203	85.0	85.0	85.0		446	3.2	1.0	6	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PRSS16	NM_005865.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	149/515	27216987	1,13005	2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27216987G>A	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.446G>A	6.37:g.27216987G>A	ENSP00000230582:p.Arg149His					PRSS16_ENST00000421826.2_Intron	p.R149H	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			4	461	+			149					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.446G>A	CCDS4623.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.07	3.019626	0.54576	0.0	1.16E-4	ENSG00000112812	ENST00000230582;ENST00000343467;ENST00000348953	T	0.17691	2.26	4.04	3.15	0.36227	.	0.459428	0.21587	N	0.072144	T	0.06508	0.0167	L	0.53617	1.68	0.40525	D	0.980879	B;B;P	0.40431	0.068;0.031;0.717	B;B;B	0.31614	0.033;0.012;0.133	T	0.14811	-1.0459	10	0.45353	T	0.12	-20.5965	10.1014	0.42507	0.1023:0.0:0.8977:0.0	.	40;149;149	Q7Z5N6;C9JI59;Q9NQE7	.;.;TSSP_HUMAN	H	149	ENSP00000230582:R149H	ENSP00000230582:R149H	R	+	2	0	PRSS16	27324966	0.892000	0.30473	1.000000	0.80357	0.879000	0.50718	1.984000	0.40658	1.015000	0.39444	0.557000	0.71058	CGC		0.562	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			30	117	0	0	0	1	0	30	117				
ARID4B	51742	broad.mit.edu	37	1	235403679	235403679	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:235403679A>G	ENST00000264183.3	-	8	1031	c.534T>C	c.(532-534)tgT>tgC	p.C178C	ARID4B_ENST00000366603.2_Silent_p.C178C|ARID4B_ENST00000349213.3_Silent_p.C178C	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	178					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TGTAATCTACACATACAACTT	0.368																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(532-534)tgT>tgC		AT rich interactive domain 4B (RBP1-like)							130.0	119.0	123.0					1																	235403679		2203	4300	6503	SO:0001819	synonymous_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235403679A>G	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.534T>C	1.37:g.235403679A>G						ARID4B_ENST00000349213.3_Silent_p.C178C|ARID4B_ENST00000366603.2_Silent_p.C178C	p.C178C	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		8	1031	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	178					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Silent	SNP	ENST00000264183.3	37	c.534T>C	CCDS31061.1																																																																																				0.368	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		12	23	0	0	0	1	0	12	23				
RSBN1L	222194	broad.mit.edu	37	7	77379267	77379267	+	Nonsense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:77379267T>A	ENST00000334955.8	+	3	1257	c.1230T>A	c.(1228-1230)taT>taA	p.Y410*	RSBN1L_ENST00000445288.1_Nonsense_Mutation_p.Y140*	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	410						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGCTACTTATTTACCTGACT	0.378																																						ENST00000334955.7																			0				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1228-1230)taT>taA		round spermatid basic protein 1-like							176.0	163.0	167.0					7																	77379267		1828	4087	5915	SO:0001587	stop_gained	222194					nucleus		g.chr7:77379267T>A	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.1230T>A	7.37:g.77379267T>A	ENSP00000334040:p.Tyr410*					RSBN1L_ENST00000445288.1_Nonsense_Mutation_p.Y140*	p.Y410*	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN			3	1257	+			410					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Nonsense_Mutation	SNP	ENST00000334955.8	37	c.1230T>A	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.857443	0.91433	.	.	ENSG00000187257	ENST00000334955;ENST00000445288	.	.	.	5.95	-5.78	0.02362	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.256	8.4361	0.32789	0.1025:0.4281:0.0:0.4695	.	.	.	.	X	410;140	.	ENSP00000334040:Y410X	Y	+	3	2	RSBN1L	77217203	0.999000	0.42202	0.915000	0.36163	0.999000	0.98932	0.605000	0.24179	-0.915000	0.03823	0.533000	0.62120	TAT		0.378	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		40	146	0	0	0	1	0	40	146				
KIAA1549	57670	broad.mit.edu	37	7	138603663	138603663	+	Missense_Mutation	SNP	G	G	A	rs376519473		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:138603663G>A	ENST00000422774.1	-	2	757	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	KIAA1549_ENST00000242365.4_Missense_Mutation_p.R187C|KIAA1549_ENST00000440172.1_Missense_Mutation_p.R237C			Q9HCM3	K1549_HUMAN	KIAA1549	237						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCAGAGGTGCGAAAAGCTGAC	0.502			O	BRAF	pilocytic astrocytoma								G|||	1	0.000199681	0.0008	0.0	5008	,	,		23107	0.0		0.0	False		,,,				2504	0.0				NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(709-711)Cgc>Tgc		KIAA1549		G	CYS/ARG,CYS/ARG	0,4198		0,0,2099	129.0	136.0	134.0		709,709	0.6	0.0	7		134	1,8407		0,1,4203	no	missense,missense	KIAA1549	NM_001164665.1,NM_020910.2	180,180	0,1,6302	AA,AG,GG		0.0119,0.0,0.0079	benign,benign	237/1951,237/1935	138603663	1,12605	2099	4204	6303	SO:0001583	missense	57670					integral to membrane		g.chr7:138603663G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.709C>T	7.37:g.138603663G>A	ENSP00000416040:p.Arg237Cys					KIAA1549_ENST00000242365.4_Missense_Mutation_p.R187C|KIAA1549_ENST00000422774.1_Missense_Mutation_p.R237C	p.R237C	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	757	-			237					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.709C>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427207	0.62733	0.0	1.19E-4	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.30714	1.52;1.52;1.52	4.68	0.553	0.17235	.	1.141990	0.06537	N	0.742626	T	0.18341	0.0440	N	0.08118	0	0.09310	N	1	P;P	0.51933	0.915;0.949	B;P	0.44696	0.27;0.458	T	0.17868	-1.0355	10	0.54805	T	0.06	.	6.1882	0.20510	0.5299:0.0:0.4701:0.0	.	237;237	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	C	237;187;237	ENSP00000406661:R237C;ENSP00000242365:R187C;ENSP00000416040:R237C	ENSP00000242365:R187C	R	-	1	0	KIAA1549	138254203	0.037000	0.19845	0.001000	0.08648	0.796000	0.44982	0.933000	0.28897	0.224000	0.20940	0.561000	0.74099	CGC		0.502	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			36	118	0	0	0	1	0	36	118				
MTMR10	54893	broad.mit.edu	37	15	31253111	31253111	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:31253111A>G	ENST00000435680.1	-	7	828	c.731T>C	c.(730-732)aTt>aCt	p.I244T	MTMR10_ENST00000314404.8_5'UTR|MTMR10_ENST00000563714.1_Missense_Mutation_p.I162T|MTMR10_ENST00000425768.1_Silent_p.L214L	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	244	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		ACCCTCGTTAATAGAACAAAC	0.423																																						ENST00000435680.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(730-732)aTt>aCt		myotubularin related protein 10							100.0	96.0	97.0					15																	31253111		1893	4117	6010	SO:0001583	missense	54893						phosphatase activity	g.chr15:31253111A>G	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.731T>C	15.37:g.31253111A>G	ENSP00000402537:p.Ile244Thr					MTMR10_ENST00000314404.8_5'UTR|MTMR10_ENST00000563714.1_Missense_Mutation_p.I162T|MTMR10_ENST00000425768.1_Silent_p.L214L	p.I244T	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)	7	828	-		all_lung(180;2.81e-11)	244			Myotubularin phosphatase.		Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	c.731T>C	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.978223	0.53720	.	.	ENSG00000166912	ENST00000435680;ENST00000340566	D	0.93811	-3.29	5.05	5.05	0.67936	Myotubularin phosphatase domain (1);	0.264640	0.42821	D	0.000660	D	0.92880	0.7735	M	0.80332	2.49	0.80722	D	1	B;B	0.34329	0.449;0.361	B;B	0.32864	0.154;0.024	D	0.92805	0.6259	10	0.54805	T	0.06	.	14.8053	0.69948	1.0:0.0:0.0:0.0	.	162;244	Q9NXD2-2;Q9NXD2	.;MTMRA_HUMAN	T	244;162	ENSP00000402537:I244T	ENSP00000340637:I162T	I	-	2	0	MTMR10	29040403	1.000000	0.71417	0.084000	0.20598	0.951000	0.60555	8.352000	0.90075	1.900000	0.55004	0.460000	0.39030	ATT		0.423	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		5	22	0	0	0	1	0	5	22				
MAG	4099	broad.mit.edu	37	19	35786521	35786521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:35786521C>T	ENST00000392213.3	+	4	211	c.52C>T	c.(52-54)Cga>Tga	p.R18*	MAG_ENST00000537831.2_5'UTR|MAG_ENST00000361922.4_Nonsense_Mutation_p.R18*|MAG_ENST00000597035.1_Nonsense_Mutation_p.R18*	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	18					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGCAGCCTCCCGAGGGGGTCA	0.687																																						ENST00000361922.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(52-54)Cga>Tga		myelin associated glycoprotein							49.0	49.0	49.0					19																	35786521		2203	4300	6503	SO:0001587	stop_gained	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35786521C>T	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.52C>T	19.37:g.35786521C>T	ENSP00000376048:p.Arg18*					MAG_ENST00000537831.2_5'UTR|MAG_ENST00000597035.1_Nonsense_Mutation_p.R18*|MAG_ENST00000392213.3_Nonsense_Mutation_p.R18*	p.R18*	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		4	202	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	18					B7Z2E5|F5GYC0|Q567S4	Nonsense_Mutation	SNP	ENST00000392213.3	37	c.52C>T	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	c	35	5.543784	0.96474	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213	.	.	.	5.38	3.06	0.35304	.	0.153291	0.31519	N	0.007501	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	6.6728	0.23078	0.3165:0.5977:0.0:0.0858	.	.	.	.	X	55;18;18	.	ENSP00000262624:R55X	R	+	1	2	MAG	40478361	0.005000	0.15991	0.843000	0.33291	0.829000	0.46940	0.474000	0.22148	1.370000	0.46153	0.450000	0.29827	CGA		0.687	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		37	75	0	0	0	1	0	37	75				
ZNF285	26974	broad.mit.edu	37	19	44891802	44891802	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:44891802T>C	ENST00000330997.4	-	4	669	c.605A>G	c.(604-606)gAc>gGc	p.D202G	ZNF285_ENST00000591679.1_Missense_Mutation_p.D209G|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.D202G	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	202					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)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TCTACCAGGGTCCTCTCCTTT	0.443																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(604-606)gAc>gGc		zinc finger protein 285							93.0	94.0	94.0					19																	44891802		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44891802T>C	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.605A>G	19.37:g.44891802T>C	ENSP00000333595:p.Asp202Gly					ZNF285_ENST00000591679.1_Missense_Mutation_p.D209G|ZNF285_ENST00000544719.2_Missense_Mutation_p.D202G|CTC-512J12.6_ENST00000588212.1_Intron	p.D202G	NM_152354.3	NP_689567.3					4	669	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.605A>G	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	9.552	1.116097	0.20795	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.06068	3.35	3.37	1.23	0.21249	.	.	.	.	.	T	0.06508	0.0167	L	0.43923	1.385	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.32640	-0.9899	9	0.87932	D	0	.	7.0888	0.25272	0.0:0.2043:0.0:0.7957	.	226;202	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	G	225;202	ENSP00000333595:D202G	ENSP00000333595:D202G	D	-	2	0	ZNF285	49583642	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.021000	0.12504	0.077000	0.16863	0.373000	0.22412	GAC		0.443	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		27	95	0	0	0	1	0	27	95				
CTNNA1	1495	broad.mit.edu	37	5	138260997	138260997	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:138260997G>A	ENST00000302763.7	+	13	1890	c.1800G>A	c.(1798-1800)tcG>tcA	p.S600S	CTNNA1_ENST00000355078.5_Silent_p.S497S|CTNNA1_ENST00000518825.1_Silent_p.S600S|CTNNA1_ENST00000540387.1_Silent_p.S230S	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	600					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.S600S(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCCTCAGCTCGGACCCTGCCC	0.537																																						ENST00000302763.7																			1	Substitution - coding silent(1)	p.S600S(1)	endometrium(1)	NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(1798-1800)tcG>tcA		catenin (cadherin-associated protein), alpha 1, 102kDa							92.0	83.0	86.0					5																	138260997		2203	4300	6503	SO:0001819	synonymous_variant	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138260997G>A	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1800G>A	5.37:g.138260997G>A						CTNNA1_ENST00000355078.5_Silent_p.S497S|CTNNA1_ENST00000540387.1_Silent_p.S230S|CTNNA1_ENST00000518825.1_Silent_p.S600S	p.S600S	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		13	1890	+			600					Q12795|Q8N1C0	Silent	SNP	ENST00000302763.7	37	c.1800G>A	CCDS34243.1																																																																																				0.537	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		31	54	0	0	0	1	0	31	54				
NBPF10	100132406	broad.mit.edu	37	1	145304609	145304609	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:145304609A>G	ENST00000369339.3	+	7	982	c.729A>G	c.(727-729)tcA>tcG	p.S243S	NBPF10_ENST00000369338.1_Silent_p.S243S|NBPF10_ENST00000342960.5_Silent_p.S514S|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	514	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCATTGGCTCATCCTCTCATG	0.428																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1540-1542)tcA>tcG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145304609A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.729A>G	1.37:g.145304609A>G						NBPF10_ENST00000369339.2_Silent_p.S243S|NBPF10_ENST00000369338.1_Silent_p.S243S|RP11-458D21.5_ENST00000468030.1_3'UTR	p.S514S	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	10	1577	+	all_hematologic(923;0.032)		514					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1542A>G																																																																																					0.428	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		7	485	0	0	0	1	0	7	485				
GRIN2C	2905	broad.mit.edu	37	17	72840621	72840621	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:72840621A>G	ENST00000293190.5	-	12	2523	c.2377T>C	c.(2377-2379)Tgg>Cgg	p.W793R	GRIN2C_ENST00000347612.4_Missense_Mutation_p.W793R	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	793					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCTGAGAGCCACACTGTCTCC	0.542																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(2377-2379)Tgg>Cgg		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						110.0	98.0	102.0					17																	72840621		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72840621A>G		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2377T>C	17.37:g.72840621A>G	ENSP00000293190:p.Trp793Arg					GRIN2C_ENST00000347612.4_Missense_Mutation_p.W793R	p.W793R	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			12	2523	-	all_lung(278;0.172)|Lung NSC(278;0.207)		793					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.2377T>C	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	A	13.49	2.252533	0.39797	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.70399	-0.48	4.79	4.79	0.61399	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.85487	0.5708	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.88354	0.2983	10	0.87932	D	0	.	14.2958	0.66311	1.0:0.0:0.0:0.0	.	827;793	Q8IW23;Q14957	.;NMDE3_HUMAN	R	793;827	ENSP00000293190:W793R	ENSP00000293190:W793R	W	-	1	0	GRIN2C	70352216	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	9.275000	0.95738	1.912000	0.55364	0.459000	0.35465	TGG		0.542	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			34	76	0	0	0	1	0	34	76				
DST	667	broad.mit.edu	37	6	56362809	56362809	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:56362809C>T	ENST00000361203.3	-	76	18986	c.18979G>A	c.(18979-18981)Gcc>Acc	p.A6327T	DST_ENST00000370754.5_Missense_Mutation_p.A6616T|DST_ENST00000244364.6_Missense_Mutation_p.A4024T|DST_ENST00000370788.2_Missense_Mutation_p.A4241T|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.A6112T|DST_ENST00000421834.2_Missense_Mutation_p.A4350T|DST_ENST00000370769.4_Missense_Mutation_p.A6438T			Q03001	DYST_HUMAN	dystonin	6326					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTATTAACGGCTTCCACTGTG	0.368																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(19846-19848)Gcc>Acc		dystonin							193.0	179.0	183.0					6																	56362809		1886	4113	5999	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56362809C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.18979G>A	6.37:g.56362809C>T	ENSP00000354508:p.Ala6327Thr					DST_ENST00000370769.4_Missense_Mutation_p.A6438T|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.A4350T|DST_ENST00000370788.2_Missense_Mutation_p.A4241T|DST_ENST00000446842.2_Missense_Mutation_p.A6112T|DST_ENST00000361203.3_Missense_Mutation_p.A6327T|DST_ENST00000244364.6_Missense_Mutation_p.A4024T|DST_ENST00000340834.4_5'UTR	p.A6616T			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		81	19845	-	Lung NSC(77;0.103)		6436					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.19846G>A		.	.	.	.	.	.	.	.	.	.	C	18.50	3.637484	0.67130	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.79	5.79	0.91817	.	0.000000	0.51477	D	0.000096	T	0.12518	0.0304	N	0.02379	-0.575	0.32207	N	0.577067	B;P;P;B;B	0.40032	0.07;0.699;0.518;0.011;0.012	B;P;B;B;B	0.47786	0.036;0.557;0.241;0.012;0.029	T	0.15838	-1.0423	9	0.02654	T	1	.	10.4322	0.44413	0.0:0.8557:0.0:0.1443	.	4350;6438;6616;6436;4024	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	T	4024;6616;6438;4350;6112;4241;6327	ENSP00000244364:A4024T;ENSP00000359790:A6616T;ENSP00000359805:A6438T;ENSP00000400883:A4350T;ENSP00000393645:A6112T;ENSP00000359824:A4241T;ENSP00000354508:A6327T	ENSP00000244364:A4024T	A	-	1	0	DST	56470768	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	2.352000	0.44080	2.732000	0.93576	0.585000	0.79938	GCC		0.368	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		35	142	0	0	0	1	0	35	142				
MYH1	4619	broad.mit.edu	37	17	10415172	10415172	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:10415172C>T	ENST00000226207.5	-	14	1494	c.1400G>A	c.(1399-1401)gGc>gAc	p.G467D	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	467	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GATCTCAAAGCCAGCAATGTC	0.458																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(1399-1401)gGc>gAc		myosin, heavy chain 1, skeletal muscle, adult							179.0	173.0	175.0					17																	10415172		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10415172C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1400G>A	17.37:g.10415172C>T	ENSP00000226207:p.Gly467Asp					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.G467D	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			14	1494	-			467			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.1400G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693731	0.88735	.	.	ENSG00000109061	ENST00000226207	D	0.92752	-3.1	5.61	5.61	0.85477	Myosin head, motor domain (3);	0.000000	0.44097	U	0.000491	D	0.98295	0.9435	H	0.99752	4.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99253	1.0888	10	0.87932	D	0	.	20.0016	0.97412	0.0:1.0:0.0:0.0	.	467	P12882	MYH1_HUMAN	D	467	ENSP00000226207:G467D	ENSP00000226207:G467D	G	-	2	0	MYH1	10355897	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.691000	0.84191	2.802000	0.96397	0.655000	0.94253	GGC		0.458	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		53	167	0	0	0	1	0	53	167				
PIGK	10026	broad.mit.edu	37	1	77685039	77685039	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:77685039C>T	ENST00000370812.3	-	1	72	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	PIGK_ENST00000370813.5_Missense_Mutation_p.V17M|PIGK_ENST00000445065.1_Missense_Mutation_p.V17M|PIGK_ENST00000359130.1_Missense_Mutation_p.V17M|PIGK_ENST00000478391.1_5'UTR	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	17					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						AAGAGCAACACAGTTGCCAAG	0.622																																						ENST00000370812.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						c.(49-51)Gtg>Atg		phosphatidylinositol glycan anchor biosynthesis, class K							34.0	35.0	35.0					1																	77685039		2203	4299	6502	SO:0001583	missense	10026				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding	g.chr1:77685039C>T	AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.49G>A	1.37:g.77685039C>T	ENSP00000359848:p.Val17Met					PIGK_ENST00000445065.1_Missense_Mutation_p.V17M|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000370813.5_Missense_Mutation_p.V17M|PIGK_ENST00000359130.1_Missense_Mutation_p.V17M	p.V17M	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN			1	72	-			17					B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	ENST00000370812.3	37	c.49G>A	CCDS674.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062531	0.36373	.	.	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813;ENST00000359130	T;T;T;T	0.52526	0.8;0.66;0.86;0.81	4.58	-2.53	0.06326	.	0.762076	0.12026	N	0.506411	T	0.07052	0.0179	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.0;0.001	T	0.25847	-1.0120	10	0.46703	T	0.11	-6.8104	0.8815	0.01235	0.2956:0.1633:0.3395:0.2016	.	17;17;17;17	B4E2M3;B1AK81;A6NEM5;Q92643	.;.;.;GPI8_HUMAN	M	17	ENSP00000359848:V17M;ENSP00000388854:V17M;ENSP00000359849:V17M;ENSP00000352041:V17M	ENSP00000352041:V17M	V	-	1	0	PIGK	77457627	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.045000	0.12003	-0.434000	0.07275	-0.262000	0.10625	GTG		0.622	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1	NM_005482		11	46	0	0	0	1	0	11	46				
ACACA	31	broad.mit.edu	37	17	35582000	35582000	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:35582000T>C	ENST00000394406.2	-	27	3466	c.3276A>G	c.(3274-3276)tcA>tcG	p.S1092S	ACACA_ENST00000360679.3_Silent_p.S1034S|ACACA_ENST00000335166.5_Silent_p.S1014S|ACACA_ENST00000353139.5_Silent_p.S1129S	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1092					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAAGCTCATATGATGGCAAAT	0.398																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(3385-3387)tcA>tcG		acetyl-CoA carboxylase alpha	Biotin(DB00121)						102.0	93.0	96.0					17																	35582000		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35582000T>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3276A>G	17.37:g.35582000T>C						ACACA_ENST00000394406.2_Silent_p.S1092S|ACACA_ENST00000360679.3_Silent_p.S1034S|ACACA_ENST00000335166.5_Silent_p.S1014S	p.S1129S	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			27	3868	-		Breast(25;0.00157)|Ovarian(249;0.15)	1092					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.3387A>G	CCDS11317.1																																																																																				0.398	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		6	71	0	0	0	1	0	6	71				
RAD18	56852	broad.mit.edu	37	3	8955357	8955357	+	Missense_Mutation	SNP	G	G	A	rs369225742		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:8955357G>A	ENST00000264926.2	-	8	1053	c.937C>T	c.(937-939)Cgt>Tgt	p.R313C		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	313					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		GCTTCAAGACGCATCCTAGTC	0.308								Rad6 pathway																														ENST00000264926.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(937-939)Cgt>Tgt	Rad6 pathway	RAD18 homolog (S. cerevisiae)		G	CYS/ARG	0,4404		0,0,2202	94.0	90.0	91.0		937	3.6	1.0	3		91	1,8591	1.2+/-3.3	0,1,4295	no	missense	RAD18	NM_020165.3	180	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	313/496	8955357	1,12995	2202	4296	6498	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:8955357G>A		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.937C>T	3.37:g.8955357G>A	ENSP00000264926:p.Arg313Cys						p.R313C	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	8	1053	-			313					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.937C>T	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195681	0.58126	0.0	1.16E-4	ENSG00000070950	ENST00000264926	T	0.24908	1.83	4.47	3.58	0.41010	.	0.196469	0.45867	D	0.000327	T	0.41328	0.1154	M	0.64997	1.995	0.42075	D	0.99122	D	0.89917	1.0	P	0.61722	0.893	T	0.33828	-0.9853	10	0.66056	D	0.02	-9.0919	9.8628	0.41125	0.0:0.0:0.7954:0.2046	.	313	Q9NS91	RAD18_HUMAN	C	313	ENSP00000264926:R313C	ENSP00000264926:R313C	R	-	1	0	RAD18	8930357	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.715000	0.61909	1.206000	0.43276	-0.321000	0.08615	CGT		0.308	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		5	27	0	0	0	1	0	5	27				
ASTE1	28990	broad.mit.edu	37	3	130744027	130744027	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:130744027T>C	ENST00000264992.3	-	3	565	c.124A>G	c.(124-126)Agt>Ggt	p.S42G	ASTE1_ENST00000514044.1_Missense_Mutation_p.S42G|NEK11_ENST00000356918.4_5'Flank|NEK11_ENST00000429253.2_5'Flank|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000507910.1_5'Flank|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000510688.1_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	42					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						AAGTTTGAACTGAAGCAAAGA	0.373																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(124-126)Agt>Ggt		asteroid homolog 1 (Drosophila)							90.0	83.0	85.0					3																	130744027		2203	4299	6502	SO:0001583	missense	28990				DNA repair		nuclease activity	g.chr3:130744027T>C	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.124A>G	3.37:g.130744027T>C	ENSP00000264992:p.Ser42Gly					ASTE1_ENST00000514044.1_Missense_Mutation_p.S42G	p.S42G	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			3	565	-			42					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	c.124A>G	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	T	9.683	1.149755	0.21288	.	.	ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270;ENST00000505545;ENST00000504725	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.44	4.31	0.51392	XPG N-terminal (1);	0.534882	0.22906	N	0.054187	T	0.31575	0.0801	L	0.27053	0.805	0.19575	N	0.999964	B;B	0.20164	0.042;0.042	B;B	0.21917	0.037;0.037	T	0.12941	-1.0528	10	0.12766	T	0.61	-11.7934	3.3644	0.07198	0.0:0.3442:0.0:0.6558	.	42;42	D6RG30;Q2TB18	.;ASTE1_HUMAN	G	42	ENSP00000426421:S42G;ENSP00000264992:S42G;ENSP00000425683:S42G;ENSP00000422851:S42G	ENSP00000264992:S42G	S	-	1	0	ASTE1	132226717	0.198000	0.23374	0.905000	0.35620	0.050000	0.14768	0.900000	0.28431	2.063000	0.61619	0.528000	0.53228	AGT		0.373	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		36	138	0	0	0	1	0	36	138				
CROCC	9696	broad.mit.edu	37	1	17292528	17292528	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:17292528G>A	ENST00000375541.5	+	29	4679	c.4610G>A	c.(4609-4611)cGc>cAc	p.R1537H		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCCCTGAATCGCCAGCTGGCC	0.632																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(4609-4611)cGc>cAc		ciliary rootlet coiled-coil, rootletin							53.0	51.0	52.0					1																	17292528		2203	4300	6503	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17292528G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.4610G>A	1.37:g.17292528G>A	ENSP00000364691:p.Arg1537His						p.R1537H	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	29	4679	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1537						Missense_Mutation	SNP	ENST00000375541.5	37	c.4610G>A	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338814	0.41398	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.51325	0.71	4.13	-1.43	0.08884	.	.	.	.	.	T	0.39911	0.1096	L	0.34521	1.04	0.21762	N	0.999558	D;P	0.55605	0.972;0.892	B;P	0.51415	0.445;0.669	T	0.26950	-1.0088	9	0.44086	T	0.13	.	4.6791	0.12725	0.3597:0.0:0.4988:0.1415	.	840;1537	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	H	1537;1418	ENSP00000364691:R1537H	ENSP00000364691:R1537H	R	+	2	0	CROCC	17165115	0.030000	0.19436	0.001000	0.08648	0.539000	0.34962	0.716000	0.25836	-0.398000	0.07679	-0.352000	0.07741	CGC		0.632	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		21	73	0	0	0	1	0	21	73				
USP7	7874	broad.mit.edu	37	16	8989584	8989584	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:8989584A>G	ENST00000344836.4	-	27	3032	c.2834T>C	c.(2833-2835)gTa>gCa	p.V945A	USP7_ENST00000381886.4_Missense_Mutation_p.V929A|USP7_ENST00000535863.1_Missense_Mutation_p.V846A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	945					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTTGTAGCTTACAATTTCTAG	0.338																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2833-2835)gTa>gCa		ubiquitin specific peptidase 7 (herpes virus-associated)							51.0	50.0	51.0					16																	8989584		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8989584A>G	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2834T>C	16.37:g.8989584A>G	ENSP00000343535:p.Val945Ala					USP7_ENST00000535863.1_Missense_Mutation_p.V846A|USP7_ENST00000381886.4_Missense_Mutation_p.V929A	p.V945A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			27	3032	-			945					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.2834T>C	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	A	11.04	1.522267	0.27211	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863	T;T	0.06528	3.29;3.29	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.06735	0.0172	L	0.34521	1.04	0.80722	D	1	B;B	0.18741	0.03;0.03	B;B	0.21151	0.033;0.033	T	0.37596	-0.9699	10	0.17369	T	0.5	.	15.8527	0.78947	1.0:0.0:0.0:0.0	.	945;929	Q93009;B7Z815	UBP7_HUMAN;.	A	945;953;846	ENSP00000343535:V945A;ENSP00000443646:V846A	ENSP00000343535:V945A	V	-	2	0	USP7	8897085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.196000	0.94978	2.146000	0.66826	0.528000	0.53228	GTA		0.338	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			9	27	0	0	0	1	0	9	27				
PCDHB7	56129	broad.mit.edu	37	5	140554213	140554213	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140554213C>T	ENST00000231137.3	+	1	1971	c.1797C>T	c.(1795-1797)aaC>aaT	p.N599N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	599	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGCCAGAACGCCTGGCTGT	0.711																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1795-1797)aaC>aaT									23.0	34.0	31.0					5																	140554213		1935	3974	5909	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554213C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1797C>T	5.37:g.140554213C>T							p.N599N	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1971	+			599			Cadherin 6.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1797C>T	CCDS4249.1																																																																																				0.711	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		42	492	0	0	0	1	0	42	492				
VANGL2	57216	broad.mit.edu	37	1	160394995	160394995	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:160394995G>A	ENST00000368061.2	+	8	1867	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	465					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.E465K(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTGGTGAGCGAGGAGCCGGT	0.552																																						ENST00000368061.2																			1	Substitution - Missense(1)	p.E465K(1)	central_nervous_system(1)	biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(1393-1395)Gag>Aag		VANGL planar cell polarity protein 2							84.0	75.0	78.0					1																	160394995		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160394995G>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1393G>A	1.37:g.160394995G>A	ENSP00000357040:p.Glu465Lys						p.E465K	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		8	1867	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		465					D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.1393G>A	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	G	32	5.174938	0.94807	.	.	ENSG00000162738	ENST00000368061	D	0.83163	-1.69	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	D	0.88358	0.6415	M	0.71296	2.17	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.89798	0.3973	10	0.72032	D	0.01	-30.0828	15.5184	0.75842	0.0:0.0:1.0:0.0	.	465	Q9ULK5	VANG2_HUMAN	K	465	ENSP00000357040:E465K	ENSP00000357040:E465K	E	+	1	0	VANGL2	158661619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.506000	0.97992	2.205000	0.71048	0.591000	0.81541	GAG		0.552	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		9	45	0	0	0	1	0	9	45				
IFRD2	7866	broad.mit.edu	37	3	50330103	50330103	+	5'Flank	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:50330103T>C	ENST00000429673.2	-	0	0				IFRD2_ENST00000336089.4_Missense_Mutation_p.T68A|IFRD2_ENST00000436390.1_5'UTR|IFRD2_ENST00000417626.2_5'Flank|IFRD2_ENST00000484043.1_5'Flank			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2							nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCACGGTGGTTAACTCCGAA	0.672																																						ENST00000336089.4																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14						c.(202-204)Acc>Gcc		interferon-related developmental regulator 2							82.0	78.0	79.0					3																	50330103		876	1991	2867	SO:0001631	upstream_gene_variant	7866						binding	g.chr3:50330103T>C	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935		3.37:g.50330103T>C	Exception_encountered					IFRD2_ENST00000436390.1_5'UTR	p.T68A			Q12894	IFRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	201	-			0					Q9BVB4|Q9UJ88	Missense_Mutation	SNP	ENST00000429673.2	37	c.202A>G	CCDS46831.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.050725	0.36181	.	.	ENSG00000214706	ENST00000336089	T	0.51325	0.71	4.36	0.568	0.17333	.	2.905610	0.01218	N	0.008017	T	0.36054	0.0953	.	.	.	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.28902	-1.0029	9	0.87932	D	0	6.311	2.8685	0.05609	0.1847:0.2027:0.0:0.6126	.	68	Q9UJ88	.	A	68	ENSP00000336936:T68A	ENSP00000336936:T68A	T	-	1	0	IFRD2	50305107	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	0.858000	0.27845	0.093000	0.17368	-0.290000	0.09829	ACC		0.672	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764		5	101	0	0	0	1	0	5	101				
ACAD11	84129	broad.mit.edu	37	3	132360899	132360899	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:132360899T>C	ENST00000264990.6	-	4	1425	c.454A>G	c.(454-456)Aca>Gca	p.T152A	ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.T152A|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000481970.2_Missense_Mutation_p.T152A	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	152					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TGAGCCAATGTTTCTACCGTG	0.443																																						ENST00000264990.6																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						c.(454-456)Aca>Gca		acyl-CoA dehydrogenase family, member 11							147.0	132.0	137.0					3																	132360899		2203	4300	6503	SO:0001583	missense	84129							g.chr3:132360899T>C	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.454A>G	3.37:g.132360899T>C	ENSP00000264990:p.Thr152Ala					ACAD11_ENST00000355458.3_Missense_Mutation_p.T152A|ACAD11_ENST00000481970.2_Missense_Mutation_p.T152A|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000489991.1_Intron	p.T152A	NM_032169.4	NP_115545.3					4	1425	-								Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.454A>G	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.823594	0.32237	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	T;T;T	0.27890	1.64;1.64;1.64	5.49	5.49	0.81192	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	.	.	.	.	T	0.31544	0.0800	L	0.45352	1.415	0.80722	D	1	B;P	0.48640	0.201;0.913	B;P	0.45099	0.091;0.469	T	0.02829	-1.1105	9	0.22706	T	0.39	.	15.873	0.79136	0.0:0.0:0.0:1.0	.	152;152	D6RDI8;Q709F0	.;ACD11_HUMAN	A	152	ENSP00000347636:T152A;ENSP00000264990:T152A;ENSP00000420907:T152A	ENSP00000264990:T152A	T	-	1	0	ACAD11	133843589	1.000000	0.71417	0.523000	0.27875	0.171000	0.22731	2.942000	0.49018	2.201000	0.70794	0.460000	0.39030	ACA		0.443	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		33	110	0	0	0	1	0	33	110				
HMCN1	83872	broad.mit.edu	37	1	186113680	186113680	+	Missense_Mutation	SNP	C	C	T	rs41317503	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:186113680C>T	ENST00000271588.4	+	91	14340	c.14111C>T	c.(14110-14112)gCg>gTg	p.A4704V	HMCN1_ENST00000367492.2_Missense_Mutation_p.A4704V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4704	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGCAAGTGGGCGACTTGGGCC	0.517													C|||	9	0.00179712	0.0	0.0	5008	,	,		19509	0.001		0.002	False		,,,				2504	0.0061					ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(14110-14112)gCg>gTg		hemicentin 1		C	VAL/ALA	4,4402	8.1+/-20.4	0,4,2199	199.0	193.0	195.0		14111	5.8	0.8	1	dbSNP_127	195	2,8598	2.2+/-6.3	0,2,4298	yes	missense	HMCN1	NM_031935.2	64	0,6,6497	TT,TC,CC		0.0233,0.0908,0.0461	benign	4704/5636	186113680	6,13000	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186113680C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14111C>T	1.37:g.186113680C>T	ENSP00000271588:p.Ala4704Val					HMCN1_ENST00000367492.2_Missense_Mutation_p.A4704V	p.A4704V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			91	14340	+			4704			TSP type-1 4.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14111C>T	CCDS30956.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	21.6	4.172278	0.78452	9.08E-4	2.33E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.60920	0.15;0.15	5.82	5.82	0.92795	.	0.292255	0.39083	N	0.001464	T	0.55689	0.1936	L	0.41492	1.28	0.45205	D	0.99821	P	0.42248	0.774	B	0.41374	0.355	T	0.58329	-0.7655	10	0.59425	D	0.04	.	20.1143	0.97922	0.0:1.0:0.0:0.0	rs41317503	4704	Q96RW7	HMCN1_HUMAN	V	4704	ENSP00000271588:A4704V;ENSP00000356462:A4704V	ENSP00000271588:A4704V	A	+	2	0	HMCN1	184380303	0.017000	0.18338	0.766000	0.31476	0.875000	0.50365	2.418000	0.44662	2.765000	0.95021	0.650000	0.86243	GCG		0.517	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		9	232	0	0	0	1	0	9	232				
PCDHGA4	56111	broad.mit.edu	37	5	140735666	140735666	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140735666A>G	ENST00000571252.1	+	1	899	c.899A>G	c.(898-900)gAt>gGt	p.D300G	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	300	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAGTGGGGATATAACAATA	0.438																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(898-900)gAt>gGt									49.0	49.0	49.0					5																	140735666		1851	4091	5942	SO:0001583	missense	56111							g.chr5:140735666A>G	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.899A>G	5.37:g.140735666A>G	ENSP00000458570:p.Asp300Gly					PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	p.D300G	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	899	+								Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.899A>G	CCDS58979.1																																																																																				0.438	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		12	34	0	0	0	1	0	12	34				
CRISPLD2	83716	broad.mit.edu	37	16	84900593	84900593	+	Missense_Mutation	SNP	C	C	T	rs187741570		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:84900593C>T	ENST00000262424.5	+	7	1024	c.800C>T	c.(799-801)cCg>cTg	p.P267L	CRISPLD2_ENST00000564567.1_Missense_Mutation_p.P267L|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.P266L	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	267					extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						TGGCTCCAACCGAGGGTGATG	0.537																																						ENST00000262424.5																			0				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						c.(799-801)cCg>cTg		cysteine-rich secretory protein LCCL domain containing 2							117.0	98.0	105.0					16																	84900593		2199	4300	6499	SO:0001583	missense	83716					extracellular region|transport vesicle		g.chr16:84900593C>T	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.800C>T	16.37:g.84900593C>T	ENSP00000262424:p.Pro267Leu					CRISPLD2_ENST00000567845.1_Missense_Mutation_p.P266L|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.P267L	p.P267L	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN			7	1024	+			267					D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Missense_Mutation	SNP	ENST00000262424.5	37	c.800C>T	CCDS10949.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	9.481	1.098267	0.20552	.	.	ENSG00000103196	ENST00000262424	T	0.64618	-0.11	5.53	4.52	0.55395	.	0.498837	0.22460	N	0.059779	T	0.56992	0.2023	M	0.68952	2.095	0.27995	N	0.93553	B;B;B	0.25007	0.014;0.116;0.116	B;B;B	0.21360	0.001;0.034;0.017	T	0.50224	-0.8853	10	0.31617	T	0.26	.	10.7582	0.46249	0.303:0.697:0.0:0.0	.	267;267;267	Q9H0B8;Q9H0B8-2;Q9H0B8-3	CRLD2_HUMAN;.;.	L	267	ENSP00000262424:P267L	ENSP00000262424:P267L	P	+	2	0	CRISPLD2	83458094	0.006000	0.16342	0.327000	0.25402	0.035000	0.12851	1.339000	0.33885	2.596000	0.87737	0.561000	0.74099	CCG		0.537	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		24	77	0	0	0	1	0	24	77				
CAPN10	11132	broad.mit.edu	37	2	241534605	241534605	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:241534605C>T	ENST00000391984.2	+	7	1358	c.1162C>T	c.(1162-1164)Cac>Tac	p.H388Y	CAPN10_ENST00000354082.4_Missense_Mutation_p.H388Y|CAPN10_ENST00000404753.3_Missense_Mutation_p.H388Y|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000391982.2_Missense_Mutation_p.H388Y|CAPN10_ENST00000352879.4_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	388	Domain III 1.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		ATCCAGGCTGCACGCGGCGGA	0.647																																						ENST00000391984.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27						c.(1162-1164)Cac>Tac		calpain 10							52.0	58.0	56.0					2																	241534605		2203	4300	6503	SO:0001583	missense	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241534605C>T	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1162C>T	2.37:g.241534605C>T	ENSP00000375844:p.His388Tyr					CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.H388Y|CAPN10_ENST00000404753.3_Missense_Mutation_p.H388Y|CAPN10_ENST00000391982.2_Missense_Mutation_p.H388Y	p.H388Y	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	7	1358	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	388			Domain III 1.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	ENST00000391984.2	37	c.1162C>T	CCDS42838.1	.	.	.	.	.	.	.	.	.	.	C	5.284	0.237863	0.10023	.	.	ENSG00000142330	ENST00000391984;ENST00000391982;ENST00000404753;ENST00000354082	D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22	4.63	1.27	0.21489	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.532223	0.19841	N	0.104849	T	0.69052	0.3068	N	0.05383	-0.06	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.09377	0.003;0.003;0.004;0.004	T	0.58674	-0.7595	10	0.52906	T	0.07	.	3.3472	0.07140	0.0:0.3852:0.2061:0.4087	.	388;388;388;388	B7Z6G3;B7WPF5;Q9HC96-3;Q9HC96	.;.;.;CAN10_HUMAN	Y	388	ENSP00000375844:H388Y;ENSP00000375842:H388Y;ENSP00000384422:H388Y;ENSP00000270362:H388Y	ENSP00000270362:H388Y	H	+	1	0	CAPN10	241183278	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.149000	0.16243	0.385000	0.24970	-0.150000	0.13652	CAC		0.647	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		30	93	0	0	0	1	0	30	93				
SPDEF	25803	broad.mit.edu	37	6	34512036	34512036	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:34512036A>G	ENST00000374037.3	-	2	611	c.197T>C	c.(196-198)cTg>cCg	p.L66P	SPDEF_ENST00000544425.1_Missense_Mutation_p.L66P	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	66					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CTCAGGGTACAGCATGTCAAA	0.667																																						ENST00000374037.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						c.(196-198)cTg>cCg		SAM pointed domain containing ETS transcription factor							38.0	42.0	41.0					6																	34512036		2203	4300	6503	SO:0001583	missense	25803				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:34512036A>G	AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.197T>C	6.37:g.34512036A>G	ENSP00000363149:p.Leu66Pro					SPDEF_ENST00000544425.1_Missense_Mutation_p.L66P	p.L66P	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN			2	611	-			66					B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	37	c.197T>C	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.030676	0.75504	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.23348	1.91;1.98	4.79	4.79	0.61399	.	1.320430	0.05052	N	0.478364	T	0.33089	0.0851	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73380	0.98;0.972	T	0.01874	-1.1256	10	0.87932	D	0	.	14.3163	0.66452	1.0:0.0:0.0:0.0	.	66;66	F5H778;O95238	.;SPDEF_HUMAN	P	66	ENSP00000363149:L66P;ENSP00000442715:L66P	ENSP00000363149:L66P	L	-	2	0	SPDEF	34620014	1.000000	0.71417	0.968000	0.41197	0.886000	0.51366	6.759000	0.74934	1.777000	0.52277	0.482000	0.46254	CTG		0.667	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		23	77	0	0	0	1	0	23	77				
FAM47C	442444	broad.mit.edu	37	X	37027420	37027420	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:37027420T>C	ENST00000358047.3	+	1	989	c.937T>C	c.(937-939)Tca>Cca	p.S313P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	313										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCCTCCCAAGTCACGCGTATC	0.602																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(937-939)Tca>Cca		family with sequence similarity 47, member C							90.0	78.0	82.0					X																	37027420		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027420T>C	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.937T>C	X.37:g.37027420T>C	ENSP00000367913:p.Ser313Pro						p.S313P	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	989	+			313					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.937T>C	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	a	11.73	1.725794	0.30593	.	.	ENSG00000198173	ENST00000358047	T	0.14391	2.51	0.951	0.951	0.19579	.	.	.	.	.	T	0.07908	0.0198	N	0.22421	0.69	0.09310	N	1	B	0.13594	0.008	B	0.19946	0.027	T	0.43097	-0.9412	9	0.27785	T	0.31	.	3.116	0.06375	0.6209:0.0:0.0:0.3791	.	313	Q5HY64	FA47C_HUMAN	P	313	ENSP00000367913:S313P	ENSP00000367913:S313P	S	+	1	0	FAM47C	36937341	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.206000	0.17375	-1.284000	0.02390	-1.324000	0.01287	TCA		0.602	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		48	36	0	0	0	1	0	48	36				
ZFYVE16	9765	broad.mit.edu	37	5	79741121	79741121	+	Missense_Mutation	SNP	A	A	G	rs200241220		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:79741121A>G	ENST00000338008.5	+	6	2801	c.2621A>G	c.(2620-2622)gAt>gGt	p.D874G	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D874G|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D874G	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	874					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TGGTTTGCAGATGGTATATTG	0.358																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2620-2622)gAt>gGt		zinc finger, FYVE domain containing 16							135.0	128.0	131.0					5																	79741121		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79741121A>G	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2621A>G	5.37:g.79741121A>G	ENSP00000337159:p.Asp874Gly					ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D874G|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D874G	p.D874G	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	6	2801	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	874					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.2621A>G	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.972256	0.92919	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.65549	-0.16;-0.16;-0.16	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000005	T	0.80706	0.4674	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82526	-0.0413	10	0.62326	D	0.03	-25.3653	16.4837	0.84171	1.0:0.0:0.0:0.0	.	874	Q7Z3T8	ZFY16_HUMAN	G	874	ENSP00000337159:D874G;ENSP00000423663:D874G;ENSP00000426848:D874G	ENSP00000337159:D874G	D	+	2	0	ZFYVE16	79776877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.040000	0.93783	2.371000	0.80710	0.533000	0.62120	GAT		0.358	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		19	65	0	0	0	1	0	19	65				
KIAA1549L	25758	broad.mit.edu	37	11	33631336	33631336	+	Nonsense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:33631336T>G	ENST00000321505.4	+	14	4392	c.4212T>G	c.(4210-4212)taT>taG	p.Y1404*	KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.Y1410*			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1404						integral component of membrane (GO:0016021)											TCGAGCACTATCGGAACAAGC	0.547																																						ENST00000321505.4																			0											c.(4210-4212)taT>taG		KIAA1549-like							42.0	45.0	44.0					11																	33631336		2034	4182	6216	SO:0001587	stop_gained	25758							g.chr11:33631336T>G	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4212T>G	11.37:g.33631336T>G	ENSP00000315295:p.Tyr1404*					KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.Y1410*	p.Y1404*							14	4392	+								B0QYU0	Nonsense_Mutation	SNP	ENST00000321505.4	37	c.4212T>G	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	42|42	9.724922|9.724922	0.99248|0.99248	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000536568	.|.	.|.	.|.	5.76|5.76	-5.83|-5.83	0.02325|0.02325	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.29223|.	0.0727|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38628|.	-0.9652|.	3|.	.|0.02654	.|T	.|1	-8.9536|-8.9536	16.5328|16.5328	0.84366|0.84366	0.0:0.5212:0.0:0.4787|0.0:0.5212:0.0:0.4787	.|.	.|.	.|.	.|.	S|X	802|1404;1410;1243	.|.	.|ENSP00000315295:Y1404X	I|Y	+|+	2|3	0|2	C11orf41|C11orf41	33587912|33587912	0.833000|0.833000	0.29383|0.29383	0.907000|0.907000	0.35723|0.35723	0.994000|0.994000	0.84299|0.84299	-0.078000|-0.078000	0.11375|0.11375	-1.125000|-1.125000	0.02932|0.02932	-0.250000|-0.250000	0.11733|0.11733	ATC|TAT		0.547	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		6	25	0	0	0	1	0	6	25				
SEC23B	10483	broad.mit.edu	37	20	18523805	18523805	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:18523805C>T	ENST00000336714.3	+	14	2086	c.1654C>T	c.(1654-1656)Ctc>Ttc	p.L552F	SEC23B_ENST00000377475.3_Missense_Mutation_p.L552F|AL121893.1_ENST00000578930.1_RNA|SEC23B_ENST00000377465.1_Missense_Mutation_p.L552F|SEC23B_ENST00000262544.2_Missense_Mutation_p.L552F	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	552					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GGACCGACAACTCATCCGACT	0.502																																						ENST00000336714.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(1654-1656)Ctc>Ttc		Sec23 homolog B (S. cerevisiae)							105.0	104.0	104.0					20																	18523805		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18523805C>T	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1654C>T	20.37:g.18523805C>T	ENSP00000338844:p.Leu552Phe					SEC23B_ENST00000262544.2_Missense_Mutation_p.L552F|SEC23B_ENST00000377475.3_Missense_Mutation_p.L552F|SEC23B_ENST00000377465.1_Missense_Mutation_p.L552F	p.L552F	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN			14	2086	+			552					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.1654C>T	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721902	0.89298	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465;ENST00000422877	D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13	4.4	4.4	0.53042	Sec23/Sec24, helical domain (2);	0.000000	0.85682	D	0.000000	D	0.98770	0.9586	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99589	1.0975	10	0.87932	D	0	-18.4506	16.1664	0.81759	0.0:1.0:0.0:0.0	.	534;552	B4DJW8;Q15437	.;SC23B_HUMAN	F	552;552;552;552;60	ENSP00000338844:L552F;ENSP00000262544:L552F;ENSP00000366695:L552F;ENSP00000366685:L552F;ENSP00000409882:L60F	ENSP00000262544:L552F	L	+	1	0	SEC23B	18471805	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	3.917000	0.56424	2.285000	0.76669	0.655000	0.94253	CTC		0.502	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			37	137	0	0	0	1	0	37	137				
MTFR2	113115	broad.mit.edu	37	6	136564004	136564004	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:136564004T>A	ENST00000420702.1	-	4	665	c.276A>T	c.(274-276)agA>agT	p.R92S	MTFR2_ENST00000451457.2_Missense_Mutation_p.R92S	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	92					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)											ATTACCGAAATCTGAGATAAC	0.358																																						ENST00000420702.1																			0											c.(274-276)agA>agT		mitochondrial fission regulator 2							88.0	85.0	86.0					6																	136564004		2203	4300	6503	SO:0001583	missense	113115							g.chr6:136564004T>A	BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"""DUF729 domain containing 1"", ""family with sequence similarity 54, member A"""	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.276A>T	6.37:g.136564004T>A	ENSP00000395232:p.Arg92Ser					MTFR2_ENST00000451457.2_Missense_Mutation_p.R92S	p.R92S	NM_001099286.1	NP_001092756.1					4	665	-								A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	Missense_Mutation	SNP	ENST00000420702.1	37	c.276A>T	CCDS5176.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483832	0.84854	.	.	ENSG00000146410	ENST00000451457;ENST00000420702;ENST00000418509	T;T;T	0.61742	0.08;0.08;0.08	5.84	4.64	0.57946	.	0.093103	0.85682	N	0.000000	T	0.67078	0.2855	M	0.79011	2.435	0.38791	D	0.954987	D	0.76494	0.999	D	0.70935	0.971	T	0.73736	-0.3889	10	0.87932	D	0	-15.5984	12.0989	0.53772	0.0:0.0:0.1439:0.8561	.	92	Q6P444	FA54A_HUMAN	S	92;92;49	ENSP00000407010:R92S;ENSP00000395232:R92S;ENSP00000410861:R49S	ENSP00000410861:R49S	R	-	3	2	FAM54A	136605697	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.998000	0.40796	0.999000	0.39023	0.533000	0.62120	AGA		0.358	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042378.2	NM_138419		9	46	0	0	0	1	0	9	46				
ROR1	4919	broad.mit.edu	37	1	64643562	64643562	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:64643562A>G	ENST00000371079.1	+	9	2213	c.1838A>G	c.(1837-1839)cAc>cGc	p.H613R	ROR1_ENST00000545203.1_Missense_Mutation_p.H64R	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	613	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TTCTTTGTCCACAAGGACCTT	0.448																																						ENST00000371079.1																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						c.(1837-1839)cAc>cGc		receptor tyrosine kinase-like orphan receptor 1							64.0	66.0	66.0					1																	64643562		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64643562A>G	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1838A>G	1.37:g.64643562A>G	ENSP00000360120:p.His613Arg					ROR1_ENST00000545203.1_Missense_Mutation_p.H64R	p.H613R	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN			9	2213	+			613			Protein kinase.		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.1838A>G	CCDS626.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.884758	0.72410	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	D;D	0.84516	-1.86;-1.86	5.97	5.97	0.96955	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.44688	D	0.000425	D	0.95903	0.8666	H	0.99525	4.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97955	1.0334	10	0.87932	D	0	.	16.4608	0.84044	1.0:0.0:0.0:0.0	.	613	Q01973	ROR1_HUMAN	R	613;616;64	ENSP00000360120:H613R;ENSP00000441637:H64R	ENSP00000360120:H613R	H	+	2	0	ROR1	64416150	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	9.339000	0.96797	2.288000	0.76882	0.533000	0.62120	CAC		0.448	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		23	54	0	0	0	1	0	23	54				
RND3	390	broad.mit.edu	37	2	151328152	151328152	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:151328152A>T	ENST00000375734.2	-	4	721	c.472T>A	c.(472-474)Tcc>Acc	p.S158T	RND3_ENST00000409557.1_Missense_Mutation_p.S29T|RND3_ENST00000263895.4_Missense_Mutation_p.S158T|RND3_ENST00000472416.1_5'UTR	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	158					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		TGGTCATAGGACACTGGCGTC	0.403																																						ENST00000375734.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13						c.(472-474)Tcc>Acc		Rho family GTPase 3							105.0	102.0	103.0					2																	151328152		2203	4300	6503	SO:0001583	missense	390				actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity	g.chr2:151328152A>T		CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"""ras homolog gene family, member E"""	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.472T>A	2.37:g.151328152A>T	ENSP00000364886:p.Ser158Thr					RND3_ENST00000409557.1_Missense_Mutation_p.S29T|RND3_ENST00000472416.1_5'UTR|RND3_ENST00000263895.4_Missense_Mutation_p.S158T	p.S158T	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.106)	4	721	-			158					D3DP95|P52199	Missense_Mutation	SNP	ENST00000375734.2	37	c.472T>A	CCDS2190.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.042449	0.35989	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000409557	T;T;T	0.77489	-1.1;-1.1;-1.1	6.03	6.03	0.97812	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.75774	0.3895	N	0.10916	0.065	0.80722	D	1	P;B;B	0.46395	0.877;0.002;0.002	D;B;B	0.63597	0.916;0.003;0.003	T	0.73503	-0.3962	10	0.17369	T	0.5	-0.305	15.7393	0.77876	1.0:0.0:0.0:0.0	.	29;157;158	B4DSG7;D3DP96;P61587	.;.;RND3_HUMAN	T	158;158;29	ENSP00000364886:S158T;ENSP00000263895:S158T;ENSP00000386576:S29T	ENSP00000263895:S158T	S	-	1	0	RND3	151036398	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	9.313000	0.96297	2.308000	0.77769	0.533000	0.62120	TCC		0.403	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254809.1	NM_005168		22	89	0	0	0	1	0	22	89				
PCDHGA1	56114	broad.mit.edu	37	5	140712134	140712134	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140712134C>T	ENST00000517417.1	+	1	1883	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T628M	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	628	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTGCGCACGGCGCGAGCC	0.697																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(1882-1884)aCg>aTg									25.0	30.0	28.0					5																	140712134		2186	4269	6455	SO:0001583	missense	56114							g.chr5:140712134C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1883C>T	5.37:g.140712134C>T	ENSP00000431083:p.Thr628Met					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T628M	p.T628M	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1883	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.1883C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317290	0.81469	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.56941	0.43;0.43	3.92	3.92	0.45320	Cadherin (4);Cadherin-like (1);	0.000000	0.50627	D	0.000106	T	0.79275	0.4418	H	0.95504	3.68	0.38162	D	0.93906	D;D	0.89917	1.0;0.998	D;D	0.68353	0.928;0.957	D	0.87625	0.2512	10	0.72032	D	0.01	.	15.2915	0.73870	0.0:1.0:0.0:0.0	.	628;628	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	M	628	ENSP00000431083:T628M;ENSP00000367345:T628M	ENSP00000367345:T628M	T	+	2	0	PCDHGA1	140692318	0.960000	0.32886	0.930000	0.37139	0.971000	0.66376	2.886000	0.48578	2.204000	0.70986	0.580000	0.79431	ACG		0.697	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		31	91	0	0	0	1	0	31	91				
ARSI	340075	broad.mit.edu	37	5	149677774	149677774	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:149677774A>G	ENST00000328668.7	-	2	1292	c.713T>C	c.(712-714)gTa>gCa	p.V238A		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	238					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTGTGTGTACTGCCTGGAA	0.622																																						ENST00000328668.7																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(712-714)gTa>gCa		arylsulfatase family, member I							69.0	67.0	68.0					5																	149677774		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677774A>G	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.713T>C	5.37:g.149677774A>G	ENSP00000333395:p.Val238Ala						p.V238A	NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1292	-			238					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.713T>C	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096853	0.76870	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.96587	-4.06;-4.06	4.32	4.32	0.51571	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.96503	0.8859	M	0.81614	2.55	0.80722	D	1	P	0.35944	0.529	P	0.44696	0.458	D	0.95734	0.8777	10	0.30854	T	0.27	.	13.9424	0.64064	1.0:0.0:0.0:0.0	.	238	Q5FYB1	ARSI_HUMAN	A	238;95	ENSP00000333395:V238A;ENSP00000426879:V95A	ENSP00000333395:V238A	V	-	2	0	ARSI	149657967	1.000000	0.71417	0.375000	0.26029	0.993000	0.82548	5.144000	0.64832	1.945000	0.56424	0.459000	0.35465	GTA		0.622	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		16	61	0	0	0	1	0	16	61				
C2orf16	84226	broad.mit.edu	37	2	27800482	27800482	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:27800482C>T	ENST00000408964.2	+	1	1094	c.1043C>T	c.(1042-1044)tCa>tTa	p.S348L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	348						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GATTCTGCTTCAGGGATGACA	0.443																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(1042-1044)tCa>tTa		chromosome 2 open reading frame 16							88.0	87.0	87.0					2																	27800482		1923	4133	6056	SO:0001583	missense	84226							g.chr2:27800482C>T	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1043C>T	2.37:g.27800482C>T	ENSP00000386190:p.Ser348Leu						p.S348L	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	1094	+	Acute lymphoblastic leukemia(172;0.155)		348					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.1043C>T	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	8.595	0.885511	0.17540	.	.	ENSG00000221843	ENST00000408964	T	0.05717	3.4	3.59	1.74	0.24563	.	.	.	.	.	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.42982	-0.9419	9	0.48119	T	0.1	.	7.0492	0.25063	0.1683:0.7293:0.0:0.1025	.	348	Q68DN1	CB016_HUMAN	L	348	ENSP00000386190:S348L	ENSP00000386190:S348L	S	+	2	0	C2orf16	27653986	0.022000	0.18835	0.002000	0.10522	0.037000	0.13140	0.712000	0.25779	0.141000	0.18875	-1.119000	0.02030	TCA		0.443	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		25	83	0	0	0	1	0	25	83				
WWP2	11060	broad.mit.edu	37	16	69874094	69874094	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:69874094G>A	ENST00000359154.2	+	5	507	c.406G>A	c.(406-408)Gag>Aag	p.E136K	WWP2_ENST00000542271.1_Missense_Mutation_p.E20K|WWP2_ENST00000448661.1_Missense_Mutation_p.E136K|WWP2_ENST00000569174.1_Missense_Mutation_p.E136K|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Missense_Mutation_p.E136K	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	136				E -> K (in Ref. 1; AAC51325). {ECO:0000305}.	cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCAGGCGGAGAGCTGACAAT	0.552																																						ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(406-408)Gag>Aag		WW domain containing E3 ubiquitin protein ligase 2							120.0	99.0	106.0					16																	69874094		2198	4300	6498	SO:0001583	missense	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69874094G>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.406G>A	16.37:g.69874094G>A	ENSP00000352069:p.Glu136Lys					WWP2_ENST00000356003.2_Missense_Mutation_p.E136K|WWP2_ENST00000569174.1_Missense_Mutation_p.E136K|WWP2_ENST00000448661.1_Missense_Mutation_p.E136K|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Missense_Mutation_p.E20K	p.E136K	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			5	507	+			136	E -> K (in Ref. 1; AAC51325).				A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	c.406G>A	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	34	5.308905	0.95629	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.68025	-0.3;-0.3;-0.3;1.24	5.2	5.2	0.72013	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	L	0.58810	1.83	0.80722	D	1	D	0.61080	0.989	P	0.57776	0.827	T	0.74708	-0.3574	9	.	.	.	.	15.8883	0.79269	0.0:0.0:1.0:0.0	.	136	O00308	WWP2_HUMAN	K	136;136;136;23;20	ENSP00000352069:E136K;ENSP00000396871:E136K;ENSP00000348283:E136K;ENSP00000445616:E20K	.	E	+	1	0	WWP2	68431595	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.603000	0.90871	2.429000	0.82318	0.655000	0.94253	GAG		0.552	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		4	137	0	0	0	1	0	4	137				
UTRN	7402	broad.mit.edu	37	6	144747450	144747450	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:144747450T>C	ENST00000367545.3	+	6	433	c.433T>C	c.(433-435)Tcg>Ccg	p.S145P		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	145	Actin-binding.				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)		GGATGTCATGTCGGACCTGCA	0.478																																						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.(433-435)Tcg>Ccg		utrophin							152.0	132.0	139.0					6																	144747450		2203	4300	6503	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.chr6:144747450T>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.433T>C	6.37:g.144747450T>C	ENSP00000356515:p.Ser145Pro						p.S145P	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)	6	433	+		Ovarian(120;0.218)	145			Actin-binding.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.433T>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.824224	0.50739	.	.	ENSG00000152818	ENST00000367529;ENST00000367545;ENST00000421035	D;D	0.95788	-3.81;-3.81	5.92	5.92	0.95590	Calponin homology domain (2);	0.171151	0.28082	N	0.016672	D	0.87289	0.6140	L	0.35487	1.065	0.80722	D	1	P	0.37781	0.608	B	0.29598	0.104	D	0.89623	0.3850	10	0.66056	D	0.02	.	12.2378	0.54526	0.0:0.0:0.1418:0.8582	.	145	P46939	UTRO_HUMAN	P	145;145;149	ENSP00000356515:S145P;ENSP00000396276:S149P	ENSP00000356499:S145P	S	+	1	0	UTRN	144789143	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.051000	0.57412	2.267000	0.75376	0.383000	0.25322	TCG		0.478	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			24	80	0	0	0	1	0	24	80				
ZAK	51776	broad.mit.edu	37	2	174130844	174130844	+	Missense_Mutation	SNP	G	G	A	rs200257993		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:174130844G>A	ENST00000375213.3	+	20	1847	c.1769G>A	c.(1768-1770)cGt>cAt	p.R590H	MLTK_ENST00000409176.2_Missense_Mutation_p.R590H|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		590					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)	p.R590H(1)									TCTTTACAGCGTTCCCAGAGC	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18355	0.0		0.0	False		,,,				2504	0.0					ENST00000375213.3																			1	Substitution - Missense(1)	p.R590H(1)	endometrium(1)								c.(1768-1770)cGt>cAt				G	HIS/ARG	1,4011		0,1,2005	61.0	58.0	59.0		1769	3.9	0.8	2		59	0,8356		0,0,4178	no	missense	ZAK	NM_016653.2	29	0,1,6183	AA,AG,GG		0.0,0.0249,0.0081	benign	590/801	174130844	1,12367	2006	4178	6184	SO:0001583	missense	51776							g.chr2:174130844G>A																												ENST00000375213.3:c.1769G>A	2.37:g.174130844G>A	ENSP00000364361:p.Arg590His					MLTK_ENST00000409176.2_Missense_Mutation_p.R590H|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA	p.R590H	NM_016653.2	NP_057737.2					20	1847	+								B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	c.1769G>A	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918961	0.33908	2.49E-4	0.0	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.74526	-0.85;-0.85	5.72	3.9	0.45041	.	0.486799	0.25001	N	0.033902	T	0.55513	0.1925	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49263	-0.8958	10	0.27082	T	0.32	.	7.6061	0.28103	0.3462:0.0:0.6538:0.0	.	590	Q9NYL2	MLTK_HUMAN	H	590	ENSP00000387259:R590H;ENSP00000364361:R590H	ENSP00000364361:R590H	R	+	2	0	AC013461.1	173839090	1.000000	0.71417	0.838000	0.33150	0.993000	0.82548	2.926000	0.48892	1.416000	0.47057	0.585000	0.79938	CGT		0.512	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			6	19	0	0	0	1	0	6	19				
TAS2R8	50836	broad.mit.edu	37	12	10958702	10958702	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:10958702C>A	ENST00000240615.2	-	1	1190	c.878G>T	c.(877-879)aGg>aTg	p.R293M		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	293					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAATGTCTGCCTCAGTTTATT	0.333																																						ENST00000240615.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(877-879)aGg>aTg		taste receptor, type 2, member 8							28.0	30.0	29.0					12																	10958702		2202	4295	6497	SO:0001583	missense	50836				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10958702C>A	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.878G>T	12.37:g.10958702C>A	ENSP00000240615:p.Arg293Met						p.R293M	NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN			1	1190	-			293					Q4KN29|Q645Y2	Missense_Mutation	SNP	ENST00000240615.2	37	c.878G>T	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.862108	0.32884	.	.	ENSG00000121314	ENST00000240615	T	0.01076	5.37	4.64	2.76	0.32466	.	0.096968	0.42420	U	0.000711	T	0.06050	0.0157	M	0.83223	2.63	0.24527	N	0.994137	D	0.89917	1.0	D	0.91635	0.999	T	0.02728	-1.1118	10	0.87932	D	0	.	8.8535	0.35214	0.0:0.8089:0.0:0.1911	.	293	Q9NYW2	TA2R8_HUMAN	M	293	ENSP00000240615:R293M	ENSP00000240615:R293M	R	-	2	0	TAS2R8	10849969	0.000000	0.05858	0.638000	0.29380	0.130000	0.20726	-0.144000	0.10280	1.171000	0.42768	0.655000	0.94253	AGG		0.333	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			21	36	1	0	1.96895e-08	1	2.03015e-08	21	36				
SKOR1	390598	broad.mit.edu	37	15	68118741	68118741	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:68118741G>A	ENST00000380035.2	+	2	633	c.575G>A	c.(574-576)cGt>cAt	p.R192H	SKOR1_ENST00000341418.5_Missense_Mutation_p.R378H|SKOR1_ENST00000554240.1_Missense_Mutation_p.R153H|SKOR1_ENST00000554054.1_Missense_Mutation_p.R164H|SKOR1_ENST00000389002.1_Missense_Mutation_p.R183H			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	192					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						TGGGGCTCGCGTGGTAGCTTC	0.592																																						ENST00000380035.2																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						c.(574-576)cGt>cAt		SKI family transcriptional corepressor 1							109.0	96.0	101.0					15																	68118741		2200	4298	6498	SO:0001583	missense	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68118741G>A		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.575G>A	15.37:g.68118741G>A	ENSP00000369374:p.Arg192His					SKOR1_ENST00000554054.1_Missense_Mutation_p.R164H|SKOR1_ENST00000341418.5_Missense_Mutation_p.R378H|SKOR1_ENST00000554240.1_Missense_Mutation_p.R153H|SKOR1_ENST00000389002.1_Missense_Mutation_p.R183H	p.R192H			P84550	SKOR1_HUMAN			2	633	+			192					A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	ENST00000380035.2	37	c.575G>A		.	.	.	.	.	.	.	.	.	.	G	25.4	4.633270	0.87660	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T;T	0.74106	-0.8;-0.78;-0.78;-0.8;-0.81	4.61	4.61	0.57282	.	0.059862	0.64402	D	0.000003	D	0.86912	0.6047	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89336	0.3650	10	0.87932	D	0	-11.6967	16.0277	0.80555	0.0:0.0:1.0:0.0	.	183	P84550-3	.	H	378;153;164;192;183	ENSP00000343200:R378H;ENSP00000451193:R153H;ENSP00000452361:R164H;ENSP00000369374:R192H;ENSP00000373654:R183H	ENSP00000343200:R378H	R	+	2	0	SKOR1	65905795	1.000000	0.71417	0.995000	0.50966	0.884000	0.51177	7.881000	0.87252	2.114000	0.64651	0.462000	0.41574	CGT		0.592	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		36	104	0	0	0	1	0	36	104				
SLC35B1	10237	broad.mit.edu	37	17	47780584	47780584	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:47780584A>G	ENST00000240333.6	-	7	849	c.728T>C	c.(727-729)aTc>aCc	p.I243T	SLC35B1_ENST00000415270.2_Missense_Mutation_p.I280T			P78383	S35B1_HUMAN	solute carrier family 35, member B1	243					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AAAGAGCAGGATGTTATAGAT	0.522																																						ENST00000240333.6																			0				endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						c.(727-729)aTc>aCc		solute carrier family 35, member B1							99.0	88.0	92.0					17																	47780584		2203	4300	6503	SO:0001583	missense	10237					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	g.chr17:47780584A>G	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"""Solute carriers"""	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.728T>C	17.37:g.47780584A>G	ENSP00000240333:p.Ile243Thr					SLC35B1_ENST00000415270.2_Missense_Mutation_p.I280T	p.I243T			P78383	S35B1_HUMAN			7	849	-			243					B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	c.728T>C	CCDS11552.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466911	0.84425	.	.	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000504260;ENST00000502406;ENST00000503334;ENST00000508520	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	M	0.75447	2.3	0.80722	D	1	D;D	0.67145	0.992;0.996	D;D	0.66497	0.925;0.944	T	0.55780	-0.8087	10	0.48119	T	0.1	-0.1738	14.5785	0.68268	1.0:0.0:0.0:0.0	.	176;243	D3DTX1;P78383	.;S35B1_HUMAN	T	243;280;119;119;176;246	ENSP00000240333:I243T;ENSP00000409548:I280T;ENSP00000423323:I176T;ENSP00000424367:I246T	ENSP00000240333:I243T	I	-	2	0	SLC35B1	45135583	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.848000	0.92172	2.098000	0.63641	0.459000	0.35465	ATC		0.522	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2	NM_005827		9	116	0	0	0	1	0	9	116				
ADAM12	8038	broad.mit.edu	37	10	127760131	127760131	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:127760131G>A	ENST00000368679.4	-	12	1556	c.1247C>T	c.(1246-1248)cCg>cTg	p.P416L	ADAM12_ENST00000368676.4_Missense_Mutation_p.P416L|ADAM12_ENST00000467145.1_5'Flank	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	416	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCTGACTTCCGGCAGGTTAAA	0.542																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1246-1248)cCg>cTg		ADAM metallopeptidase domain 12							87.0	86.0	86.0					10																	127760131		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127760131G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1247C>T	10.37:g.127760131G>A	ENSP00000357668:p.Pro416Leu					ADAM12_ENST00000368676.4_Missense_Mutation_p.P416L	p.P416L	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	12	1556	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	416			Peptidase M12B.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.1247C>T	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072585	0.93950	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.72282	-0.64;-0.64	4.99	4.99	0.66335	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.89532	0.6742	H	0.95917	3.74	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.92767	0.6229	10	0.87932	D	0	.	18.4657	0.90753	0.0:0.0:1.0:0.0	.	413;413;416;413;416	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	L	416	ENSP00000357668:P416L;ENSP00000357665:P416L	ENSP00000357665:P416L	P	-	2	0	ADAM12	127750121	1.000000	0.71417	0.958000	0.39756	0.983000	0.72400	9.487000	0.97945	2.595000	0.87683	0.563000	0.77884	CCG		0.542	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			5	174	0	0	0	1	0	5	174				
MANEAL	149175	broad.mit.edu	37	1	38265637	38265637	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:38265637T>C	ENST00000373045.6	+	4	1517	c.1136T>C	c.(1135-1137)gTc>gCc	p.V379A	RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000329006.5_Missense_Mutation_p.V157A|MANEAL_ENST00000397631.3_3'UTR|MANEAL_ENST00000525897.1_Missense_Mutation_p.V185A	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	379						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGCAACAGGGTCAATGGCAAG	0.562																																						ENST00000373045.6																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7						c.(1135-1137)gTc>gCc		mannosidase, endo-alpha-like							81.0	87.0	85.0					1																	38265637		2203	4300	6503	SO:0001583	missense	149175					Golgi membrane|integral to membrane	hydrolase activity	g.chr1:38265637T>C	AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.1136T>C	1.37:g.38265637T>C	ENSP00000362136:p.Val379Ala					RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000329006.5_Missense_Mutation_p.V157A|MANEAL_ENST00000525897.1_Missense_Mutation_p.V185A|MANEAL_ENST00000397631.3_3'UTR	p.V379A	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN			4	1517	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	379					Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	ENST00000373045.6	37	c.1136T>C	CCDS44110.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.231389	0.58777	.	.	ENSG00000185090	ENST00000373045;ENST00000525897;ENST00000329006	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	L	0.39397	1.21	0.58432	D	0.999998	B;B	0.28584	0.038;0.216	B;B	0.30251	0.014;0.113	T	0.39860	-0.9593	9	0.08837	T	0.75	-42.2007	14.6414	0.68729	0.0:0.0:0.0:1.0	.	157;379	Q5VSG8-2;Q5VSG8	.;MANEL_HUMAN	A	379;185;157	.	ENSP00000328770:V157A	V	+	2	0	MANEAL	38038224	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.838000	0.62803	2.151000	0.67156	0.533000	0.62120	GTC		0.562	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2	NM_152496		20	98	0	0	0	1	0	20	98				
DHX9	1660	broad.mit.edu	37	1	182852455	182852455	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:182852455T>C	ENST00000367549.3	+	25	3206	c.3096T>C	c.(3094-3096)agT>agC	p.S1032S	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1032					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GTCCTTTTAGTAGCCAAGACA	0.358																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						c.(3094-3096)agT>agC		DEAH (Asp-Glu-Ala-His) box helicase 9							106.0	89.0	94.0					1																	182852455		1881	4100	5981	SO:0001819	synonymous_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182852455T>C	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.3096T>C	1.37:g.182852455T>C						DHX9_ENST00000485081.1_3'UTR	p.S1032S	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			25	3206	+			1032					B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Silent	SNP	ENST00000367549.3	37	c.3096T>C	CCDS41444.1																																																																																				0.358	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		13	29	0	0	0	1	0	13	29				
RELN	5649	broad.mit.edu	37	7	103155699	103155699	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:103155699G>A	ENST00000428762.1	-	50	8211	c.8052C>T	c.(8050-8052)cgC>cgT	p.R2684R	RELN_ENST00000343529.5_Silent_p.R2684R|RELN_ENST00000424685.2_Silent_p.R2684R|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2684					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGCAGGGGAGCGCTCATGCT	0.532																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(8050-8052)cgC>cgT		reelin							46.0	45.0	46.0					7																	103155699		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103155699G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8052C>T	7.37:g.103155699G>A						RELN_ENST00000343529.5_Silent_p.R2684R|RELN_ENST00000428762.1_Silent_p.R2684R	p.R2684R			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	50	8211	-			2684					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.8052C>T	CCDS47680.1																																																																																				0.532	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		17	49	0	0	0	1	0	17	49				
BCAN	63827	broad.mit.edu	37	1	156618588	156618588	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:156618588T>C	ENST00000329117.5	+	6	1334	c.998T>C	c.(997-999)tTc>tCc	p.F333S	BCAN_ENST00000361588.5_Missense_Mutation_p.F333S|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	333	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGACTCTCTTCCTCTTCCCC	0.607																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(997-999)tTc>tCc		brevican							111.0	108.0	109.0					1																	156618588		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156618588T>C	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.998T>C	1.37:g.156618588T>C	ENSP00000331210:p.Phe333Ser					BCAN_ENST00000361588.5_Missense_Mutation_p.F333S|RP11-284F21.7_ENST00000448869.1_RNA	p.F333S	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			6	1334	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		333			Link 2.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.998T>C	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.053962	0.75960	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000424639;ENST00000361588	T;T;T	0.19669	2.3;2.13;2.97	4.72	4.72	0.59763	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.093149	0.45126	D	0.000393	T	0.31544	0.0800	L	0.56769	1.78	0.45733	D	0.998637	D;P	0.76494	0.999;0.737	D;B	0.74674	0.984;0.378	T	0.08889	-1.0700	10	0.87932	D	0	-18.526	13.1566	0.59520	0.0:0.0:0.0:1.0	.	333;333	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	S	274;333;231;333	ENSP00000331210:F333S;ENSP00000401709:F231S;ENSP00000354925:F333S	ENSP00000255029:F274S	F	+	2	0	BCAN	154885212	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.711000	0.47177	1.985000	0.57927	0.379000	0.24179	TTC		0.607	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		4	224	0	0	0	1	0	4	224				
IL1RAP	3556	broad.mit.edu	37	3	190347252	190347252	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:190347252G>A	ENST00000412504.2	+	8	1268	c.1016G>A	c.(1015-1017)gGc>gAc	p.G339D	IL1RAP_ENST00000422485.1_Missense_Mutation_p.G339D|IL1RAP_ENST00000434491.1_Missense_Mutation_p.G198D|IL1RAP_ENST00000317757.3_Missense_Mutation_p.G339D|IL1RAP_ENST00000422940.1_Missense_Mutation_p.G339D|IL1RAP_ENST00000072516.3_Missense_Mutation_p.G339D|IL1RAP_ENST00000443369.2_Missense_Mutation_p.G339D|IL1RAP_ENST00000439062.1_Missense_Mutation_p.G339D|IL1RAP_ENST00000447382.1_Missense_Mutation_p.G339D			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	339	Ig-like C2-type 3.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AGTGCCAAAGGCGAAGTTGCC	0.428																																						ENST00000412504.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1015-1017)gGc>gAc		interleukin 1 receptor accessory protein							92.0	83.0	86.0					3																	190347252		2203	4300	6503	SO:0001583	missense	3556				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190347252G>A	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1016G>A	3.37:g.190347252G>A	ENSP00000412053:p.Gly339Asp					IL1RAP_ENST00000072516.3_Missense_Mutation_p.G339D|IL1RAP_ENST00000443369.2_Missense_Mutation_p.G339D|IL1RAP_ENST00000422485.1_Missense_Mutation_p.G339D|IL1RAP_ENST00000447382.1_Missense_Mutation_p.G339D|IL1RAP_ENST00000439062.1_Missense_Mutation_p.G339D|IL1RAP_ENST00000422940.1_Missense_Mutation_p.G339D|IL1RAP_ENST00000434491.1_Missense_Mutation_p.G198D|IL1RAP_ENST00000317757.3_Missense_Mutation_p.G339D	p.G339D			Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	8	1268	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		339			Ig-like C2-type 3.		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	c.1016G>A	CCDS3298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.56|19.56	3.850756|3.850756	0.71719|0.71719	.|.	.|.	ENSG00000196083|ENSG00000196083	ENST00000412080|ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422485;ENST00000434491;ENST00000422940;ENST00000317757	.|T;T;T;T;T;T;T;T;T	.|0.24151	.|1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.7|5.7	5.7|5.7	0.88788|0.88788	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.057725	.|0.64402	.|D	.|0.000002	T|T	0.51941|0.51941	0.1704|0.1704	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;0.996;0.981;1.0	.|D;D;B;D	.|0.87578	.|0.996;0.924;0.445;0.998	T|T	0.48305|0.48305	-0.9047|-0.9047	5|10	.|0.52906	.|T	.|0.07	.|.	17.3419|17.3419	0.87299|0.87299	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|198;339;339;339	.|C9J9W1;Q9NPH3-5;Q9NPH3;Q9NPH3-2	.|.;.;IL1AP_HUMAN;.	T|D	176|339;339;339;339;339;339;198;339;339	.|ENSP00000072516:G339D;ENSP00000408893:G339D;ENSP00000412053:G339D;ENSP00000401132:G339D;ENSP00000390541:G339D;ENSP00000409352:G339D;ENSP00000391899:G198D;ENSP00000387371:G339D;ENSP00000314807:G339D	.|ENSP00000072516:G339D	A|G	+|+	1|2	0|0	IL1RAP|IL1RAP	191829946|191829946	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.761000|0.761000	0.43186|0.43186	5.612000|5.612000	0.67681|0.67681	2.705000|2.705000	0.92388|0.92388	0.650000|0.650000	0.86243|0.86243	GCG|GGC		0.428	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			9	44	0	0	0	1	0	9	44				
CDH13	1012	broad.mit.edu	37	16	83520084	83520084	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:83520084A>G	ENST00000566620.1	+	7	1074	c.784A>G	c.(784-786)Acc>Gcc	p.T262A	CDH13_ENST00000268613.10_Missense_Mutation_p.T309A|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Missense_Mutation_p.T223A	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	262	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCCGGTAGGCACCACAGTGAT	0.567																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(784-786)Acc>Gcc		cadherin 13							66.0	67.0	66.0					16																	83520084		2114	4239	6353	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83520084A>G	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.784A>G	16.37:g.83520084A>G	ENSP00000454435:p.Thr262Ala					CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Missense_Mutation_p.T223A|CDH13_ENST00000268613.10_Missense_Mutation_p.T309A	p.T262A	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	7	1074	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	262			Cadherin 2.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.784A>G	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.162418	0.78226	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	T	0.57107	0.42	5.64	5.64	0.86602	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68622	0.3021	M	0.66506	2.035	0.80722	D	1	D;P;B	0.58620	0.983;0.848;0.104	P;P;B	0.62298	0.9;0.481;0.099	T	0.72354	-0.4319	9	0.87932	D	0	.	15.0525	0.71885	1.0:0.0:0.0:0.0	.	223;309;262	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	A	309;262;223	ENSP00000268613:T309A	ENSP00000268613:T309A	T	+	1	0	CDH13	82077585	1.000000	0.71417	0.995000	0.50966	0.596000	0.36781	8.565000	0.90730	2.144000	0.66660	0.533000	0.62120	ACC		0.567	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		16	38	0	0	0	1	0	16	38				
CHD2	1106	broad.mit.edu	37	15	93567810	93567810	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:93567810C>T	ENST00000394196.4	+	39	6430	c.5362C>T	c.(5362-5364)Cgc>Tgc	p.R1788C		NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1788					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTCAGATCCTCGCTCACCCCC	0.502																																						ENST00000394196.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(5362-5364)Cgc>Tgc		chromodomain helicase DNA binding protein 2							96.0	99.0	98.0					15																	93567810		1926	4127	6053	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93567810C>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.5362C>T	15.37:g.93567810C>T	ENSP00000377747:p.Arg1788Cys						p.R1788C	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		39	6430	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1788					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.5362C>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033473	0.75504	.	.	ENSG00000173575	ENST00000394196	D	0.95724	-3.79	5.77	5.77	0.91146	.	.	.	.	.	D	0.94951	0.8367	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	P	0.53185	0.72	D	0.94954	0.8102	9	0.59425	D	0.04	-9.4147	20.3473	0.98799	0.0:1.0:0.0:0.0	.	1788	O14647	CHD2_HUMAN	C	1788	ENSP00000377747:R1788C	ENSP00000377747:R1788C	R	+	1	0	CHD2	91368814	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.017000	0.76399	2.884000	0.98904	0.655000	0.94253	CGC		0.502	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		4	74	0	0	0	1	0	4	74				
FRMD4A	55691	broad.mit.edu	37	10	13699253	13699253	+	Missense_Mutation	SNP	G	G	A	rs139853925		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:13699253G>A	ENST00000357447.2	-	22	2704	c.2336C>T	c.(2335-2337)gCg>gTg	p.A779V	FRMD4A_ENST00000358621.4_Missense_Mutation_p.A764V|FRMD4A_ENST00000378503.1_Missense_Mutation_p.A779V	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	779					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCTCTGGCGCGCCTTGGACGG	0.731																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(2335-2337)gCg>gTg		FERM domain containing 4A							24.0	22.0	23.0					10																	13699253		2200	4295	6495	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13699253G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2336C>T	10.37:g.13699253G>A	ENSP00000350032:p.Ala779Val					FRMD4A_ENST00000378503.1_Missense_Mutation_p.A779V|FRMD4A_ENST00000358621.4_Missense_Mutation_p.A764V	p.A779V	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			22	2704	-			779					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.2336C>T	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	33	5.207953	0.95033	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.84223	-1.82;-1.82;-1.82	5.11	5.11	0.69529	.	0.094663	0.64402	D	0.000001	D	0.88258	0.6388	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.89877	0.4027	10	0.72032	D	0.01	-18.8242	18.5337	0.91001	0.0:0.0:1.0:0.0	.	779	Q9P2Q2	FRM4A_HUMAN	V	764;779;779	ENSP00000351438:A764V;ENSP00000350032:A779V;ENSP00000367764:A779V	ENSP00000350032:A779V	A	-	2	0	FRMD4A	13739259	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.510000	0.98004	2.353000	0.79882	0.436000	0.28706	GCG		0.731	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		3	11	0	0	0	1	0	3	11				
LETMD1	25875	broad.mit.edu	37	12	51449704	51449704	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:51449704G>A	ENST00000262055.4	+	5	599	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	LETMD1_ENST00000552739.1_Missense_Mutation_p.R70Q|LETMD1_ENST00000418425.2_Missense_Mutation_p.R200Q|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000550929.1_Missense_Mutation_p.R131Q|LETMD1_ENST00000380123.2_3'UTR	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	187	LETM1.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CATGCTTTCCGGAAGCAGTCC	0.448																																						ENST00000418425.2																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						c.(598-600)cGg>cAg		LETM1 domain containing 1							93.0	94.0	94.0					12																	51449704		2203	4300	6503	SO:0001583	missense	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51449704G>A	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.560G>A	12.37:g.51449704G>A	ENSP00000262055:p.Arg187Gln					LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000262055.4_Missense_Mutation_p.R187Q|LETMD1_ENST00000550929.1_Missense_Mutation_p.R131Q|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000552739.1_Missense_Mutation_p.R70Q|LETMD1_ENST00000547008.1_Intron	p.R200Q	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN			5	618	+			187			LETM1.		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	c.599G>A	CCDS8806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.6|28.6	4.938240|4.938240	0.92526|0.92526	.|.	.|.	ENSG00000050426|ENSG00000050426	ENST00000551931|ENST00000551477;ENST00000550755;ENST00000550929;ENST00000262055;ENST00000549340;ENST00000418425;ENST00000448283;ENST00000552739	.|T;T;T;T;T;T	.|0.53857	.|0.6;0.6;0.6;0.6;0.6;0.6	5.08|5.08	5.08|5.08	0.68730|0.68730	.|LETM1-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71693|0.71693	0.3370|0.3370	M|M	0.65498|0.65498	2.005|2.005	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	.|0.91635	.|0.997;0.999;0.981;0.999	T|T	0.73811|0.73811	-0.3865|-0.3865	5|10	.|0.87932	.|D	.|0	-15.4743|-15.4743	17.7887|17.7887	0.88546|0.88546	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|137;200;70;187	.|F8VVQ3;B3KXK7;F8VP71;Q6P1Q0	.|.;.;.;LTMD1_HUMAN	R|Q	5|154;93;131;187;137;200;137;70	.|ENSP00000446862:R154Q;ENSP00000450163:R131Q;ENSP00000262055:R187Q;ENSP00000449896:R137Q;ENSP00000389903:R200Q;ENSP00000450333:R70Q	.|ENSP00000262055:R187Q	G|R	+|+	1|2	0|0	LETMD1|LETMD1	49735971|49735971	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	3.923000|3.923000	0.56469|0.56469	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.448	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416		4	148	0	0	0	1	0	4	148				
PLA2G4C	8605	broad.mit.edu	37	19	48608657	48608657	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:48608657G>A	ENST00000599921.1	-	3	410	c.53C>T	c.(52-54)gCg>gTg	p.A18V	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A18V|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A28V|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.A18V			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	18	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.A18V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CTCCACGGCCGCCTTTTCTTC	0.483																																						ENST00000354276.3																			1	Substitution - Missense(1)	p.A18V(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38						c.(52-54)gCg>gTg		phospholipase A2, group IVC (cytosolic, calcium-independent)							95.0	108.0	104.0					19																	48608657		2203	4300	6503	SO:0001583	missense	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48608657G>A	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.53C>T	19.37:g.48608657G>A	ENSP00000469473:p.Ala18Val					PLA2G4C_ENST00000599921.1_Missense_Mutation_p.A18V|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A18V|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A28V	p.A18V	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	3	380	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	18			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	c.53C>T	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	G	1.968	-0.437316	0.04636	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04758	3.56;3.56	2.72	-5.44	0.02624	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	1.346960	0.05590	N	0.574519	T	0.03520	0.0101	L	0.35644	1.08	0.09310	N	1	B;B;B	0.23591	0.088;0.088;0.088	B;B;B	0.15484	0.013;0.007;0.01	T	0.21586	-1.0241	10	0.30078	T	0.28	0.0523	1.8348	0.03138	0.1712:0.1033:0.3243:0.4013	.	28;18;18	B4DI40;Q8WWC5;Q9UP65	.;.;PA24C_HUMAN	V	18	ENSP00000346228:A18V;ENSP00000400036:A18V	ENSP00000346228:A18V	A	-	2	0	PLA2G4C	53300469	0.000000	0.05858	0.005000	0.12908	0.040000	0.13550	-3.514000	0.00445	-4.230000	0.00063	-1.021000	0.02439	GCG		0.483	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			6	152	0	0	0	1	0	6	152				
ZNF211	10520	broad.mit.edu	37	19	58145234	58145234	+	Intron	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:58145234A>G	ENST00000347302.3	+	1	269				ZNF211_ENST00000299871.5_Intron|ZNF211_ENST00000420680.1_Intron|ZNF211_ENST00000541801.1_Intron|ZNF211_ENST00000254182.7_Intron|ZNF211_ENST00000544273.1_Silent_p.T16T|ZNF211_ENST00000391703.3_Intron|ZNF211_ENST00000240731.4_Intron	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211						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(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ccaaggccacacaactggtga	0.522																																						ENST00000544273.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(46-48)acA>acG		zinc finger protein 211							31.0	29.0	30.0					19																	58145234		876	1991	2867	SO:0001627	intron_variant	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58145234A>G	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.90+430A>G	19.37:g.58145234A>G						ZNF211_ENST00000254182.7_Intron|ZNF211_ENST00000420680.1_Intron|ZNF211_ENST00000240731.4_Intron|ZNF211_ENST00000391703.3_Intron|ZNF211_ENST00000541801.1_Intron|ZNF211_ENST00000299871.5_Intron|ZNF211_ENST00000347302.3_Intron	p.T16T			Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	375	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	0					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Silent	SNP	ENST00000347302.3	37	c.48A>G	CCDS12957.1																																																																																				0.522	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			5	27	0	0	0	1	0	5	27				
MTCL1	23255	broad.mit.edu	37	18	8824861	8824861	+	Missense_Mutation	SNP	A	A	G	rs112747828	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:8824861A>G	ENST00000306329.11	+	13	4310	c.4310A>G	c.(4309-4311)tAc>tGc	p.Y1437C	SOGA2_ENST00000306285.7_Missense_Mutation_p.Y443C|SOGA2_ENST00000517570.1_Missense_Mutation_p.Y1077C|SOGA2_ENST00000518815.1_Missense_Mutation_p.Y443C|SOGA2_ENST00000400050.3_Missense_Mutation_p.Y1077C|SOGA2_ENST00000359865.3_Missense_Mutation_p.Y1118C																							AGCTGGGACTACACACCCAAC	0.642																																						ENST00000359865.3																			0											c.(3352-3354)tAc>tGc		SOGA family member 2							66.0	65.0	65.0					18																	8824861		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8824861A>G																												ENST00000306329.11:c.4310A>G	18.37:g.8824861A>G	ENSP00000305027:p.Tyr1437Cys					SOGA2_ENST00000400050.3_Missense_Mutation_p.Y1077C|SOGA2_ENST00000518815.1_Missense_Mutation_p.Y443C|SOGA2_ENST00000306329.11_Missense_Mutation_p.Y1437C|SOGA2_ENST00000517570.1_Missense_Mutation_p.Y1077C|SOGA2_ENST00000306285.7_Missense_Mutation_p.Y443C	p.Y1118C	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			15	3495	+			1428						Missense_Mutation	SNP	ENST00000306329.11	37	c.3353A>G		.	.	.	.	.	.	.	.	.	.	A	13.83	2.354328	0.41700	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.33865	2.41;2.39;2.41;1.39	4.98	3.83	0.44106	.	0.237994	0.22016	N	0.065783	T	0.46386	0.1390	L	0.39898	1.24	0.33513	D	0.591413	B;D	0.89917	0.003;1.0	B;D	0.69479	0.003;0.964	T	0.56171	-0.8023	10	0.40728	T	0.16	-8.2358	10.2964	0.43627	0.922:0.0:0.078:0.0	.	1428;1118	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	C	1139;1077;1118;1077;443	ENSP00000429556:Y1077C;ENSP00000352927:Y1118C;ENSP00000382924:Y1077C;ENSP00000303670:Y443C	ENSP00000303670:Y443C	Y	+	2	0	CCDC165	8814861	0.998000	0.40836	0.416000	0.26546	0.845000	0.48019	3.734000	0.55037	0.747000	0.32809	0.528000	0.53228	TAC		0.642	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			42	119	0	0	0	1	0	42	119				
FAM175A	84142	broad.mit.edu	37	4	84390289	84390289	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:84390289T>C	ENST00000321945.7	-	6	600	c.492A>G	c.(490-492)gtA>gtG	p.V164V	FAM175A_ENST00000505489.1_5'UTR|MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Silent_p.V115V	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	164					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						CCACTAAAGGTACCCTGTGAA	0.383																																						ENST00000321945.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						c.(490-492)gtA>gtG		family with sequence similarity 175, member A							94.0	99.0	97.0					4																	84390289		2203	4300	6503	SO:0001819	synonymous_variant	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84390289T>C	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.492A>G	4.37:g.84390289T>C						FAM175A_ENST00000506553.1_Silent_p.V115V|MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000505489.1_5'UTR	p.V164V	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN			6	600	-			164					A5JJ07|Q9H8I1|Q9H9N4	Silent	SNP	ENST00000321945.7	37	c.492A>G	CCDS3605.2																																																																																				0.383	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076		35	99	0	0	0	1	0	35	99				
TMEM25	84866	broad.mit.edu	37	11	118404221	118404221	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:118404221A>G	ENST00000313236.5	+	5	813	c.760A>G	c.(760-762)Acc>Gcc	p.T254A	RP11-770J1.3_ENST00000528578.1_RNA|TMEM25_ENST00000442938.2_Intron|RP11-770J1.3_ENST00000532597.1_RNA|TMEM25_ENST00000529001.1_3'UTR|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|TMEM25_ENST00000411589.2_Intron|TMEM25_ENST00000359862.4_Intron|TMEM25_ENST00000524725.1_Intron|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000354064.7_Intron|TMEM25_ENST00000354284.4_Missense_Mutation_p.T254A|TMEM25_ENST00000544878.1_Missense_Mutation_p.T157A|TMEM25_ENST00000533102.1_Missense_Mutation_p.T254A	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	254						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GGGGTTCAGCACCTTGGTGGC	0.607																																						ENST00000313236.5																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13						c.(760-762)Acc>Gcc		transmembrane protein 25							66.0	67.0	66.0					11																	118404221		2200	4295	6495	SO:0001583	missense	84866					extracellular region|integral to membrane|plasma membrane		g.chr11:118404221A>G	AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"""Immunoglobulin superfamily / C2-set domain containing"""	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.760A>G	11.37:g.118404221A>G	ENSP00000315635:p.Thr254Ala					TMEM25_ENST00000411589.2_Intron|TMEM25_ENST00000524725.1_Intron|TMEM25_ENST00000442938.2_Intron|TMEM25_ENST00000354064.7_Intron|TMEM25_ENST00000354284.4_Missense_Mutation_p.T254A|TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000544878.1_Missense_Mutation_p.T157A|TMEM25_ENST00000533102.1_Missense_Mutation_p.T254A|TMEM25_ENST00000359862.4_Intron	p.T254A	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	5	813	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)	254					A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Missense_Mutation	SNP	ENST00000313236.5	37	c.760A>G	CCDS8398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.63|12.63	1.995243|1.995243	0.35226|0.35226	.|.	.|.	ENSG00000149582|ENSG00000149582	ENST00000526853|ENST00000528373;ENST00000544878;ENST00000354284;ENST00000533102;ENST00000313236	.|T;T;T;T;T	.|0.31769	.|1.48;1.54;2.25;2.22;2.27	5.84|5.84	4.73|4.73	0.59995|0.59995	.|.	.|0.384408	.|0.29822	.|N	.|0.011116	T|T	0.13586|0.13586	0.0329|0.0329	N|N	0.12182|0.12182	0.205|0.205	0.23787|0.23787	N|N	0.996842|0.996842	.|B;B;B;B;B	.|0.19583	.|0.009;0.005;0.013;0.009;0.037	.|B;B;B;B;B	.|0.19391	.|0.022;0.01;0.014;0.022;0.025	T|T	0.21861|0.21861	-1.0233|-1.0233	5|10	.|0.13853	.|T	.|0.58	-12.8673|-12.8673	4.3509|4.3509	0.11155|0.11155	0.6663:0.176:0.1577:0.0|0.6663:0.176:0.1577:0.0	.|.	.|157;254;254;254;254	.|F5H294;Q86YD3;B7Z4E4;Q86YD3-4;E9PKP3	.|.;TMM25_HUMAN;.;.;.	R|A	88|157;157;254;254;254	.|ENSP00000432040:T157A;ENSP00000439408:T157A;ENSP00000346237:T254A;ENSP00000431548:T254A;ENSP00000315635:T254A	.|ENSP00000315635:T254A	H|T	+|+	2|1	0|0	TMEM25|TMEM25	117909431|117909431	0.737000|0.737000	0.28175|0.28175	0.999000|0.999000	0.59377|0.59377	0.992000|0.992000	0.81027|0.81027	0.672000|0.672000	0.25187|0.25187	2.234000|2.234000	0.73211|0.73211	0.460000|0.460000	0.39030|0.39030	CAC|ACC		0.607	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389266.1	NM_032780		24	62	0	0	0	1	0	24	62				
CSMD1	64478	broad.mit.edu	37	8	3265497	3265497	+	Silent	SNP	G	G	A	rs369942752		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:3265497G>A	ENST00000520002.1	-	15	2553	c.1998C>T	c.(1996-1998)agC>agT	p.S666S	CSMD1_ENST00000537824.1_Silent_p.S665S|CSMD1_ENST00000400186.3_Silent_p.S666S|CSMD1_ENST00000539096.1_Silent_p.S665S|CSMD1_ENST00000602723.1_Silent_p.S666S|CSMD1_ENST00000542608.1_Silent_p.S665S|CSMD1_ENST00000602557.1_Silent_p.S666S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	666	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TATGCCCACTGCTGGCCAGCT	0.488																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(1996-1998)agC>agT		CUB and Sushi multiple domains 1		G		0,3900		0,0,1950	76.0	71.0	73.0		1995	2.5	1.0	8		73	1,8291		0,1,4145	no	coding-synonymous	CSMD1	NM_033225.5		0,1,6095	AA,AG,GG		0.0121,0.0,0.0082		665/3565	3265497	1,12191	1950	4146	6096	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3265497G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1998C>T	8.37:g.3265497G>A						CSMD1_ENST00000602557.1_Silent_p.S666S|CSMD1_ENST00000602723.1_Silent_p.S666S|CSMD1_ENST00000539096.1_Silent_p.S665S|CSMD1_ENST00000542608.1_Silent_p.S665S|CSMD1_ENST00000537824.1_Silent_p.S665S|CSMD1_ENST00000400186.3_Silent_p.S666S	p.S666S			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	15	2553	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	666			CUB 4.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.1998C>T		.	.	.	.	.	.	.	.	.	.	G	8.751	0.921300	0.17982	0.0	1.21E-4	ENSG00000183117	ENST00000335551	.	.	.	5.23	2.49	0.30216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.5257	0.39162	0.3108:0.0:0.6892:0.0	.	.	.	.	X	146	.	.	Q	-	1	0	CSMD1	3252904	1.000000	0.71417	0.986000	0.45419	0.836000	0.47400	2.017000	0.40981	0.227000	0.20999	-0.373000	0.07131	CAG		0.488	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		20	33	0	0	0	1	0	20	33				
CNTLN	54875	broad.mit.edu	37	9	17340896	17340896	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:17340896C>T	ENST00000380647.3	+	11	1800	c.1716C>T	c.(1714-1716)aaC>aaT	p.N572N	CNTLN_ENST00000262360.5_Silent_p.N572N|CNTLN_ENST00000425824.1_Silent_p.N572N			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	572					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TACAGACCAACTACAGAGCAG	0.388																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1714-1716)aaC>aaT		centlein, centrosomal protein							88.0	84.0	86.0					9																	17340896		1915	4133	6048	SO:0001819	synonymous_variant	54875					centriole|membrane	two-component sensor activity	g.chr9:17340896C>T	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1716C>T	9.37:g.17340896C>T						CNTLN_ENST00000425824.1_Silent_p.N572N|CNTLN_ENST00000262360.5_Silent_p.N572N	p.N572N			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	11	1800	+			572					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	ENST00000380647.3	37	c.1716C>T	CCDS43789.1																																																																																				0.388	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		7	42	0	0	0	1	0	7	42				
TRPM3	80036	broad.mit.edu	37	9	73461507	73461507	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:73461507A>G	ENST00000377111.2	-	4	706	c.463T>C	c.(463-465)Tat>Cat	p.Y155H	TRPM3_ENST00000396280.5_Splice_Site_p.Y2H|TRPM3_ENST00000357533.2_Splice_Site_p.Y157H|TRPM3_ENST00000377101.1_Splice_Site_p.Y2H|TRPM3_ENST00000408909.2_Splice_Site_p.Y2H|TRPM3_ENST00000396285.1_Splice_Site_p.Y2H|TRPM3_ENST00000360823.2_Splice_Site_p.Y2H|TRPM3_ENST00000358082.3_Splice_Site_p.Y2H|TRPM3_ENST00000423814.3_Splice_Site_p.Y157H|TRPM3_ENST00000396292.4_Splice_Site_p.Y2H|TRPM3_ENST00000361823.5_Splice_Site_p.Y2H|TRPM3_ENST00000377097.3_Splice_Site_p.Y2H|TRPM3_ENST00000377106.1_Splice_Site_p.Y2H|TRPM3_ENST00000377105.1_Splice_Site_p.Y2H|TRPM3_ENST00000377110.3_Splice_Site_p.Y155H|TRPM3_ENST00000396283.1_Splice_Site_p.Y2H	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	155					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACTCGCACATACTGGAAGAAG	0.428																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.e4-1		transient receptor potential cation channel, subfamily M, member 3							62.0	57.0	59.0					9																	73461507		2203	4300	6503	SO:0001630	splice_region_variant	80036					integral to membrane	calcium channel activity	g.chr9:73461507A>G	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.463-1T>C	9.37:g.73461507A>G						TRPM3_ENST00000357533.2_Splice_Site_p.Y157_splice|TRPM3_ENST00000396292.4_Splice_Site_p.Y2_splice|TRPM3_ENST00000396285.1_Splice_Site_p.Y2_splice|TRPM3_ENST00000396283.1_Splice_Site_p.Y2_splice|TRPM3_ENST00000377097.3_Splice_Site_p.Y2_splice|TRPM3_ENST00000396280.5_Splice_Site_p.Y2_splice|TRPM3_ENST00000360823.2_Splice_Site_p.Y2_splice|TRPM3_ENST00000408909.2_Splice_Site_p.Y2_splice|TRPM3_ENST00000377101.1_Splice_Site_p.Y2_splice|TRPM3_ENST00000423814.3_Splice_Site_p.Y157_splice|TRPM3_ENST00000377111.2_Splice_Site_p.Y155_splice|TRPM3_ENST00000377106.1_Splice_Site_p.Y2_splice|TRPM3_ENST00000358082.3_Splice_Site_p.Y2_splice|TRPM3_ENST00000361823.5_Splice_Site_p.Y2_splice|TRPM3_ENST00000377105.1_Splice_Site_p.Y2_splice	p.Y155_splice	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			4	706	-			155					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Splice_Site	SNP	ENST00000377111.2	37	c.462_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.510660|4.510660	0.85389|0.85389	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823;ENST00000455451	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.63417	.|-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	6.01|6.01	6.01|6.01	0.97437|0.97437	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84211|0.84211	0.5422|0.5422	M|M	0.93016|0.93016	3.37|3.37	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D;D;D;D;D;D	.|0.89917	.|0.999;0.999;1.0;1.0;1.0;0.999;0.998;1.0;0.999	.|D;D;D;D;D;D;D;D;D	.|0.83275	.|0.954;0.974;0.99;0.991;0.979;0.996;0.991;0.99;0.996	D|D	0.87995|0.87995	0.2752|0.2752	5|10	.|0.87932	.|D	.|0	-6.475|-6.475	16.5285|16.5285	0.84344|0.84344	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|155;157;2;155;155;155;157;2;2	.|Q9HCF6;Q4VXD2;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1	.|TRPM3_HUMAN;.;.;.;.;.;.;.;.	A|H	1|155;155;2;2;2;157;2;2;2;2;157;2;2;2;2	.|ENSP00000366315:Y155H;ENSP00000366314:Y155H;ENSP00000366310:Y2H;ENSP00000354066:Y2H;ENSP00000366309:Y2H;ENSP00000350140:Y157H;ENSP00000386127:Y2H;ENSP00000379581:Y2H;ENSP00000379587:Y2H;ENSP00000350791:Y2H;ENSP00000389542:Y157H;ENSP00000366305:Y2H;ENSP00000379579:Y2H;ENSP00000355395:Y2H	.|ENSP00000350140:Y157H	V|Y	-|-	2|1	0|0	TRPM3|TRPM3	72651327|72651327	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.868000|0.868000	0.49771|0.49771	9.243000|9.243000	0.95416|0.95416	2.307000|2.307000	0.77673|0.77673	0.528000|0.528000	0.53228|0.53228	GTA|TAT		0.428	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	Missense_Mutation	15	52	0	0	0	1	0	15	52				
DDX11	1663	broad.mit.edu	37	12	31255934	31255934	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:31255934G>A	ENST00000407793.2	+	24	2688	c.2437G>A	c.(2437-2439)Gcc>Acc	p.A813T	DDX11_ENST00000228264.6_Missense_Mutation_p.A787T|DDX11_ENST00000542838.1_Missense_Mutation_p.A813T|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_Missense_Mutation_p.A763T|DDX11_ENST00000545668.1_Missense_Mutation_p.A813T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	813					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGAGAAGATGGCCTACTTGGA	0.607										Multiple Myeloma(12;0.14)																												ENST00000407793.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(2437-2439)Gcc>Acc		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							65.0	63.0	64.0					12																	31255934		2203	4297	6500	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31255934G>A	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2437G>A	12.37:g.31255934G>A	ENSP00000384703:p.Ala813Thr	Multiple Myeloma(12;0.14)				DDX11_ENST00000542838.1_Missense_Mutation_p.A813T|DDX11_ENST00000350437.4_Missense_Mutation_p.A763T|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.A787T|DDX11_ENST00000545668.1_Missense_Mutation_p.A813T	p.A813T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN			24	2688	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		813					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.2437G>A	CCDS44856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.587|9.587	1.125160|1.125160	0.20959|0.20959	.|.	.|.	ENSG00000013573|ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437|ENST00000539702	D;D;D;D;D|.	0.91843|.	-2.92;-2.92;-2.92;-2.92;-2.92|.	3.44|3.44	3.44|3.44	0.39384|0.39384	Helicase, ATP-dependent, c2 type (1);|.	0.362863|.	0.32343|.	N|.	0.006221|.	T|.	0.56848|.	0.2013|.	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	B;P;B;B|.	0.34977|.	0.204;0.478;0.105;0.204|.	B;B;B;B|.	0.35655|.	0.076;0.207;0.055;0.076|.	T|.	0.53913|.	-0.8371|.	10|.	0.15066|.	T|.	0.55|.	.|.	8.0156|8.0156	0.30379|0.30379	0.0:0.0:0.757:0.243|0.0:0.0:0.757:0.243	.|.	787;813;763;813|.	Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2|.	.;DDX11_HUMAN;.;.|.	T|X	813;813;538;787;813;763|78	ENSP00000443426:A813T;ENSP00000384703:A813T;ENSP00000228264:A787T;ENSP00000440402:A813T;ENSP00000309965:A763T|.	ENSP00000228264:A787T|.	A|W	+|+	1|3	0|0	DDX11|DDX11	31147201|31147201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.827000|0.827000	0.46813|0.46813	2.324000|2.324000	0.43831|0.43831	1.747000|1.747000	0.51819|0.51819	0.505000|0.505000	0.49811|0.49811	GCC|TGG		0.607	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		14	68	0	0	0	1	0	14	68				
LINS	55180	broad.mit.edu	37	15	101120735	101120735	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:101120735A>G	ENST00000314742.8	-	2	535	c.313T>C	c.(313-315)Tct>Cct	p.S105P	LINS_ENST00000561308.1_Missense_Mutation_p.S105P|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000560133.1_Intron	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	105										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						GTTTTGACAGACAATATCCGG	0.403																																						ENST00000314742.8																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						c.(313-315)Tct>Cct		lines homolog (Drosophila)							104.0	103.0	103.0					15																	101120735		2202	4300	6502	SO:0001583	missense	55180							g.chr15:101120735A>G	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.313T>C	15.37:g.101120735A>G	ENSP00000318423:p.Ser105Pro					LINS_ENST00000560133.1_Intron|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.S105P	p.S105P	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN			2	535	-			105					Q96FW2|Q9NVQ3	Missense_Mutation	SNP	ENST00000314742.8	37	c.313T>C	CCDS10385.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.988791	0.35131	.	.	ENSG00000140471	ENST00000314742	T	0.18338	2.22	5.78	4.59	0.56863	.	0.458821	0.23228	N	0.050500	T	0.35008	0.0917	M	0.61703	1.905	0.09310	N	0.999991	D;D	0.89917	1.0;0.999	D;D	0.70716	0.97;0.956	T	0.08371	-1.0725	10	0.72032	D	0.01	-14.6869	9.5657	0.39396	0.7437:0.0:0.0:0.2563	.	105;105	Q8NG48-2;Q8NG48	.;LINES_HUMAN	P	105	ENSP00000318423:S105P	ENSP00000318423:S105P	S	-	1	0	LINS	98938258	0.241000	0.23857	0.031000	0.17742	0.140000	0.21249	1.771000	0.38542	2.197000	0.70478	0.528000	0.53228	TCT		0.403	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		19	53	0	0	0	1	0	19	53				
DICER1	23405	broad.mit.edu	37	14	95590838	95590838	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:95590838T>C	ENST00000526495.1	-	10	1362	c.1071A>G	c.(1069-1071)gcA>gcG	p.A357A	DICER1_ENST00000541352.1_Silent_p.A357A|DICER1_ENST00000393063.1_Silent_p.A357A|DICER1_ENST00000343455.3_Silent_p.A357A|DICER1_ENST00000527414.1_Silent_p.A357A			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	357	Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTTCACATAGTGCATGTATTT	0.368			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(1069-1071)gcA>gcG		dicer 1, ribonuclease type III							136.0	138.0	137.0					14																	95590838		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95590838T>C	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1071A>G	14.37:g.95590838T>C						DICER1_ENST00000343455.3_Silent_p.A357A|DICER1_ENST00000541352.1_Silent_p.A357A|DICER1_ENST00000393063.1_Silent_p.A357A|DICER1_ENST00000527414.1_Silent_p.A357A	p.A357A			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	10	1362	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	357			Required for interaction with PRKRA and TARBP2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	c.1071A>G	CCDS9931.1																																																																																				0.368	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			29	103	0	0	0	1	0	29	103				
PNKD	25953	broad.mit.edu	37	2	219204794	219204794	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:219204794G>A	ENST00000273077.4	+	4	446	c.395G>A	c.(394-396)aGc>aAc	p.S132N	PNKD_ENST00000436005.2_Missense_Mutation_p.S72N|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000258362.3_Missense_Mutation_p.S108N	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	132					glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACAACTACAGCTACCTCATC	0.662																																						ENST00000273077.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						c.(394-396)aGc>aAc		paroxysmal nonkinesigenic dyskinesia							95.0	79.0	85.0					2																	219204794		2203	4300	6503	SO:0001583	missense	25953					membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr2:219204794G>A		CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"""myofibrillogenesis regulator 1"""	609023	"""paroxysmal nonkinesiogenic dyskinesia"""			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.395G>A	2.37:g.219204794G>A	ENSP00000273077:p.Ser132Asn					PNKD_ENST00000258362.3_Missense_Mutation_p.S108N|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000436005.2_Missense_Mutation_p.S72N	p.S132N	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	446	+		Renal(207;0.0474)	132					A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Missense_Mutation	SNP	ENST00000273077.4	37	c.395G>A	CCDS2411.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814689	0.90790	.	.	ENSG00000127838	ENST00000273077;ENST00000258362;ENST00000436005	D;D;D	0.82526	-1.62;-1.62;-1.62	4.98	4.98	0.66077	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.90618	0.7058	M	0.74467	2.265	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.72338	0.929;0.977	D	0.91025	0.4860	10	0.51188	T	0.08	-18.7348	17.8723	0.88813	0.0:0.0:1.0:0.0	.	108;132	Q8N490-3;Q8N490	.;PNKD_HUMAN	N	132;108;72	ENSP00000273077:S132N;ENSP00000258362:S108N;ENSP00000414400:S72N	ENSP00000258362:S108N	S	+	2	0	PNKD	218913038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.699000	0.91316	2.295000	0.77249	0.561000	0.74099	AGC		0.662	PNKD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256775.2			19	83	0	0	0	1	0	19	83				
MYH2	4620	broad.mit.edu	37	17	10429085	10429085	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:10429085C>T	ENST00000245503.5	-	31	4680	c.4296G>A	c.(4294-4296)gaG>gaA	p.E1432E	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Silent_p.E1432E	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1432					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCATGAGGTCCTCGACCTCAT	0.537																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(4294-4296)gaG>gaA		myosin, heavy chain 2, skeletal muscle, adult							90.0	84.0	86.0					17																	10429085		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10429085C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4296G>A	17.37:g.10429085C>T						MYH2_ENST00000397183.2_Silent_p.E1432E|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA	p.E1432E	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			31	4680	-			1432					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.4296G>A	CCDS11156.1																																																																																				0.537	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		29	107	0	0	0	1	0	29	107				
ANO9	338440	broad.mit.edu	37	11	429622	429622	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:429622T>C	ENST00000332826.6	-	11	947	c.863A>G	c.(862-864)cAg>cGg	p.Q288R		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	288					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GCGGGCGCGCTGCCGCTTCCA	0.687																																						ENST00000332826.6																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(862-864)cAg>cGg		anoctamin 9							37.0	36.0	36.0					11																	429622		2197	4284	6481	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:429622T>C	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.863A>G	11.37:g.429622T>C	ENSP00000332788:p.Gln288Arg						p.Q288R	NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN			11	947	-			288					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.863A>G	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	T	3.073	-0.190598	0.06299	.	.	ENSG00000185101	ENST00000332826	T	0.60299	0.2	4.29	3.05	0.35203	.	0.681206	0.13803	N	0.361672	T	0.29620	0.0739	N	0.05177	-0.1	0.09310	N	1	B	0.15930	0.015	B	0.16289	0.015	T	0.15578	-1.0432	10	0.02654	T	1	.	9.9023	0.41355	0.0:0.0:0.3184:0.6816	.	288	A1A5B4	ANO9_HUMAN	R	288	ENSP00000332788:Q288R	ENSP00000332788:Q288R	Q	-	2	0	ANO9	419622	0.674000	0.27549	0.845000	0.33349	0.752000	0.42762	3.250000	0.51445	1.718000	0.51419	0.449000	0.29647	CAG		0.687	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		16	68	0	0	0	1	0	16	68				
DNAH1	25981	broad.mit.edu	37	3	52400777	52400777	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52400777C>T	ENST00000420323.2	+	36	5900	c.5639C>T	c.(5638-5640)aCg>aTg	p.T1880M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1880	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTGCCATGACGTCACTGAAA	0.612																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(5638-5640)aCg>aTg		dynein, axonemal, heavy chain 1							88.0	92.0	90.0					3																	52400777		2106	4213	6319	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52400777C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5639C>T	3.37:g.52400777C>T	ENSP00000401514:p.Thr1880Met						p.T1880M	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	36	5900	+			1880			AAA 2 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.5639C>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144979	0.77888	.	.	ENSG00000114841	ENST00000420323	T	0.26957	1.7	4.97	4.97	0.65823	.	0.000000	0.50627	D	0.000113	T	0.63331	0.2502	M	0.93763	3.455	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.75121	-0.3429	10	0.72032	D	0.01	.	18.241	0.89967	0.0:1.0:0.0:0.0	.	1880	C9JXH6	.	M	1880	ENSP00000401514:T1880M	ENSP00000401514:T1880M	T	+	2	0	DNAH1	52375817	1.000000	0.71417	0.889000	0.34880	0.942000	0.58702	5.860000	0.69546	2.300000	0.77407	0.561000	0.74099	ACG		0.612	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		29	87	0	0	0	1	0	29	87				
MRGPRX2	117194	broad.mit.edu	37	11	19077629	19077629	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:19077629A>G	ENST00000329773.2	-	2	408	c.321T>C	c.(319-321)acT>acC	p.T107T		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	107					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGGTCATCACAGTGGTGAAGA	0.547																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(319-321)acT>acC		MAS-related GPR, member X2							98.0	98.0	98.0					11																	19077629		2199	4293	6492	SO:0001819	synonymous_variant	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077629A>G		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.321T>C	11.37:g.19077629A>G							p.T107T	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	408	-			107					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Silent	SNP	ENST00000329773.2	37	c.321T>C	CCDS7847.1																																																																																				0.547	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		19	110	0	0	0	1	0	19	110				
AS3MT	57412	broad.mit.edu	37	10	104660390	104660390	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:104660390A>T	ENST00000369880.3	+	11	1138	c.1061A>T	c.(1060-1062)gAc>gTc	p.D354V	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	354					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		GAAGAGTCTGACAGTATGAAG	0.443																																						ENST00000369880.3																			0				large_intestine(1)|lung(6)	7						c.(1060-1062)gAc>gTc		arsenic (+3 oxidation state) methyltransferase							146.0	140.0	142.0					10																	104660390		1984	4187	6171	SO:0001583	missense	57412				arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity	g.chr10:104660390A>T	AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"""arsenic (+3 oxidation state) methyltransferase"""			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.1061A>T	10.37:g.104660390A>T	ENSP00000358896:p.Asp354Val					C10ORF32_ENST00000299353.6_3'UTR	p.D354V	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)	11	1138	+		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)	354					A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Missense_Mutation	SNP	ENST00000369880.3	37	c.1061A>T	CCDS41567.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.707985	0.48412	.	.	ENSG00000214435	ENST00000369880	T	0.22945	1.93	5.3	1.68	0.24146	.	0.805314	0.10750	N	0.638453	T	0.21509	0.0518	M	0.63428	1.95	0.30840	N	0.735808	B;B	0.32245	0.009;0.361	B;B	0.27500	0.003;0.08	T	0.28870	-1.0030	9	0.15952	T	0.53	-1.5651	7.0344	0.24985	0.7306:0.0:0.2694:0.0	.	354;354	Q9HBK9;Q0VDK4	AS3MT_HUMAN;.	V	354	ENSP00000358896:D354V	ENSP00000358896:D354V	D	+	2	0	AS3MT	104650380	0.000000	0.05858	0.041000	0.18516	0.948000	0.59901	-0.048000	0.11944	0.102000	0.17638	0.459000	0.35465	GAC		0.443	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050107.1	NM_020682		27	96	0	0	0	1	0	27	96				
SSPO	23145	broad.mit.edu	37	7	149492408	149492408	+	RNA	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:149492408C>A	ENST00000378016.2	+	0	6297							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCTCCCACCCAGGGGCCCA	0.672																																						ENST00000378016.2																			0													SCO-spondin							18.0	21.0	20.0					7																	149492408		1920	4125	6045			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149492408C>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149492408C>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	6297	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				14	37	1	0	1.49906e-05	1	1.53131e-05	14	37				
SGSM1	129049	broad.mit.edu	37	22	25308672	25308672	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:25308672G>A	ENST00000400359.4	+	23	3053	c.3046G>A	c.(3046-3048)Gga>Aga	p.G1016R	SGSM1_ENST00000400358.4_Missense_Mutation_p.G961R	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1016	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CTTCCCCCACGGAGGCGCCAT	0.512																																						ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(2881-2883)Gga>Aga		small G protein signaling modulator 1							82.0	83.0	82.0					22																	25308672		2157	4276	6433	SO:0001583	missense	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25308672G>A	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.3046G>A	22.37:g.25308672G>A	ENSP00000383212:p.Gly1016Arg					SGSM1_ENST00000400359.4_Missense_Mutation_p.G1016R	p.G961R	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			22	2938	+			1016			Rab-GAP TBC.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.2881G>A	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	g	32	5.134344	0.94517	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.11169	2.8;2.8	5.3	5.3	0.74995	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.34890	0.0913	M	0.76170	2.325	0.80722	D	1	P;P;D;D	0.89917	0.769;0.809;0.993;1.0	B;P;D;D	0.97110	0.286;0.495;0.915;1.0	T	0.01635	-1.1307	10	0.42905	T	0.14	-16.8961	18.3333	0.90277	0.0:0.0:1.0:0.0	.	961;1016;1033;1016	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	R	1016;961;1016	ENSP00000383211:G961R;ENSP00000383212:G1016R	ENSP00000383211:G961R	G	+	1	0	SGSM1	23638672	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	9.779000	0.99018	2.663000	0.90544	0.655000	0.94253	GGA		0.512	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		5	21	0	0	0	1	0	5	21				
PIAS4	51588	broad.mit.edu	37	19	4033130	4033130	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:4033130G>A	ENST00000262971.2	+	8	1055	c.940G>A	c.(940-942)Gag>Aag	p.E314K		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	314					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTGACAGCGAGATCGCCAC	0.682																																						ENST00000262971.2																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.(940-942)Gag>Aag		protein inhibitor of activated STAT, 4							83.0	72.0	76.0					19																	4033130		2203	4300	6503	SO:0001583	missense	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4033130G>A	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.940G>A	19.37:g.4033130G>A	ENSP00000262971:p.Glu314Lys						p.E314K	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1055	+			314					O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	37	c.940G>A	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389185	0.61956	.	.	ENSG00000105229	ENST00000262971	T	0.37584	1.19	4.31	3.26	0.37387	Zinc finger, MIZ-type (1);	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	L	0.46819	1.47	0.80722	D	1	D	0.60160	0.987	P	0.52514	0.701	T	0.34650	-0.9820	10	0.87932	D	0	-30.3833	11.2667	0.49114	0.0898:0.0:0.9102:0.0	.	314	Q8N2W9	PIAS4_HUMAN	K	314	ENSP00000262971:E314K	ENSP00000262971:E314K	E	+	1	0	PIAS4	3984130	1.000000	0.71417	0.987000	0.45799	0.038000	0.13279	9.755000	0.98912	0.802000	0.34089	0.561000	0.74099	GAG		0.682	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		29	96	0	0	0	1	0	29	96				
ZNF749	388567	broad.mit.edu	37	19	57955220	57955220	+	Missense_Mutation	SNP	A	A	G	rs376505582		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:57955220A>G	ENST00000334181.4	+	3	954	c.704A>G	c.(703-705)tAc>tGc	p.Y235C	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	235					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)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TTGTTTAGGTACAACTCCAAC	0.418																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(703-705)tAc>tGc		zinc finger protein 749		A	CYS/TYR	0,4406		0,0,2203	57.0	55.0	55.0		704	1.2	0.0	19		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF749	NM_001023561.2	194	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	235/779	57955220	1,13005	2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955220A>G	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.704A>G	19.37:g.57955220A>G	ENSP00000333980:p.Tyr235Cys					AC004076.9_ENST00000596831.1_Intron	p.Y235C	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	954	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	235						Missense_Mutation	SNP	ENST00000334181.4	37	c.704A>G	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	A	9.655	1.142634	0.21205	0.0	1.16E-4	ENSG00000186230	ENST00000334181	T	0.15372	2.43	2.27	1.23	0.21249	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16557	0.0398	N	0.12182	0.205	0.09310	N	1	D	0.69078	0.997	P	0.62089	0.898	T	0.15206	-1.0445	9	0.40728	T	0.16	.	5.1585	0.15048	0.8295:0.0:0.1705:0.0	.	235	O43361	ZN749_HUMAN	C	235	ENSP00000333980:Y235C	ENSP00000333980:Y235C	Y	+	2	0	ZNF749	62647032	0.001000	0.12720	0.001000	0.08648	0.030000	0.12068	1.326000	0.33735	1.025000	0.39708	0.254000	0.18369	TAC		0.418	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		17	67	0	0	0	1	0	17	67				
CACNB2	783	broad.mit.edu	37	10	18828508	18828508	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:18828508A>T	ENST00000324631.7	+	14	1898	c.1838A>T	c.(1837-1839)gAt>gTt	p.D613V	RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Missense_Mutation_p.D565V|CACNB2_ENST00000377319.3_Missense_Mutation_p.D520V|CACNB2_ENST00000282343.8_Missense_Mutation_p.D585V|CACNB2_ENST00000377328.1_Missense_Mutation_p.D363V|CACNB2_ENST00000377331.2_Missense_Mutation_p.D561V|CACNB2_ENST00000352115.6_Missense_Mutation_p.D589V|CACNB2_ENST00000377329.4_Missense_Mutation_p.D559V|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000396576.2_Missense_Mutation_p.D558V	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	613					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)	CGGGACGTGGATCGAGAGCAG	0.557																																						ENST00000396576.2																			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.(1672-1674)gAt>gTt		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						89.0	71.0	77.0					10																	18828508		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18828508A>T	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.1838A>T	10.37:g.18828508A>T	ENSP00000320025:p.Asp613Val					CACNB2_ENST00000377331.2_Missense_Mutation_p.D561V|CACNB2_ENST00000377329.4_Missense_Mutation_p.D559V|CACNB2_ENST00000377319.3_Missense_Mutation_p.D520V|CACNB2_ENST00000282343.8_Missense_Mutation_p.D585V|CACNB2_ENST00000377328.1_Missense_Mutation_p.D363V|CACNB2_ENST00000377315.4_Missense_Mutation_p.D565V|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000324631.7_Missense_Mutation_p.D613V|CACNB2_ENST00000352115.6_Missense_Mutation_p.D589V	p.D558V	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			13	2174	+			613					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.1673A>T	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.479551	0.44044	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.83914	-1.78;1.98;-1.75;-1.77;1.98;-1.72;-1.72;-1.72;-1.74	5.17	4.05	0.47172	.	0.319062	0.33253	N	0.005117	D	0.83968	0.5369	L	0.34521	1.04	0.80722	D	1	B;P;D;P;P;D;D;B;P;P;B;P;D	0.76494	0.38;0.903;0.999;0.918;0.742;0.976;0.96;0.275;0.84;0.942;0.096;0.915;0.96	B;P;D;B;P;P;P;B;B;P;B;P;P	0.67103	0.147;0.569;0.949;0.355;0.569;0.833;0.685;0.283;0.44;0.751;0.122;0.635;0.685	T	0.82606	-0.0374	10	0.44086	T	0.13	-7.631	10.1363	0.42708	0.9209:0.0:0.079:0.0	.	527;585;363;565;535;559;569;520;561;585;575;589;613	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	V	613;589;363;585;561;558;520;559;565	ENSP00000320025:D613V;ENSP00000344474:D589V;ENSP00000366545:D363V;ENSP00000282343:D585V;ENSP00000366548:D561V;ENSP00000379821:D558V;ENSP00000366536:D520V;ENSP00000366546:D559V;ENSP00000366532:D565V	ENSP00000282343:D585V	D	+	2	0	CACNB2	18868514	1.000000	0.71417	0.458000	0.27068	0.670000	0.39368	4.194000	0.58393	1.018000	0.39521	0.533000	0.62120	GAT		0.557	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		20	85	0	0	0	1	0	20	85				
E2F1	1869	broad.mit.edu	37	20	32266051	32266051	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:32266051A>G	ENST00000343380.5	-	4	820	c.681T>C	c.(679-681)tgT>tgC	p.C227C	RP1-63M2.5_ENST00000606866.1_RNA	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	227	Dimerization. {ECO:0000255}.|Required for interaction with TRIM28.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|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 (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						GCTGCGTAGTACAGATATTCA	0.622																																						ENST00000343380.5																			0				NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(679-681)tgT>tgC		E2F transcription factor 1							53.0	46.0	48.0					20																	32266051		2203	4300	6503	SO:0001819	synonymous_variant	1869				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	g.chr20:32266051A>G		CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.681T>C	20.37:g.32266051A>G							p.C227C	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN			4	820	-			227			Dimerization (Potential).|Required for interaction with TRIM28.		Q13143|Q92768	Silent	SNP	ENST00000343380.5	37	c.681T>C	CCDS13224.1																																																																																				0.622	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078731.2			20	36	0	0	0	1	0	20	36				
BLOC1S1	2647	broad.mit.edu	37	12	56112959	56112959	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56112959G>C	ENST00000548925.1	+	3	318	c.303G>C	c.(301-303)caG>caC	p.Q101H	RP11-644F5.10_ENST00000550412.1_Missense_Mutation_p.Q101H|RDH5_ENST00000547072.1_5'Flank|BLOC1S1_ENST00000257899.2_Missense_Mutation_p.Q73H|RP11-644F5.10_ENST00000549424.1_Missense_Mutation_p.Q23H|RDH5_ENST00000548082.1_5'Flank|BLOC1S1_ENST00000548556.1_Missense_Mutation_p.Q23H|RDH5_ENST00000257895.5_5'Flank|BLOC1S1_ENST00000551926.1_Missense_Mutation_p.Q23H|BLOC1S1_ENST00000547076.1_Missense_Mutation_p.Q23H|BLOC1S1_ENST00000549147.1_Missense_Mutation_p.Q101H			P78537	BL1S1_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 1	101					aerobic respiration (GO:0009060)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|peptidyl-lysine acetylation (GO:0018394)|platelet dense granule organization (GO:0060155)|post-Golgi vesicle-mediated transport (GO:0006892)	BLOC-1 complex (GO:0031083)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)				breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						TTGCCAAGCAGACAGGCCAGT	0.592																																					Colon(112;1254 2715 13015)	ENST00000550412.1																			0				endometrium(1)|lung(1)	2						c.(301-303)caG>caC									84.0	72.0	76.0					12																	56112959		2203	4300	6503	SO:0001583	missense	2647							g.chr12:56112959G>C	S82447	CCDS8889.1, CCDS8889.2	12q13-q14	2012-08-01	2008-08-11	2004-05-26		ENSG00000135441		"""Biogenesis of lysosomal organelles complex-1 subunits"""	4200	protein-coding gene	gene with protein product	"""GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1"", ""BLOC-1 Subunit 1"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 1"""	601444	"""GCN5 general control of amino-acid synthesis 5-like 1 (yeast)"""	GCN5L1		8646881, 15102850	Standard	NM_001487		Approved	BLOS1	uc001shi.4	P78537		ENST00000548925.1:c.303G>C	12.37:g.56112959G>C	ENSP00000447537:p.Gln101His					RP11-644F5.10_ENST00000549424.1_Missense_Mutation_p.Q23H|BLOC1S1_ENST00000548556.1_Missense_Mutation_p.Q23H|BLOC1S1_ENST00000548925.1_Missense_Mutation_p.Q101H|BLOC1S1_ENST00000547076.1_Missense_Mutation_p.Q23H|BLOC1S1_ENST00000551926.1_Missense_Mutation_p.Q23H|BLOC1S1_ENST00000549147.1_Missense_Mutation_p.Q101H|BLOC1S1_ENST00000257899.2_Missense_Mutation_p.Q73H	p.Q101H							3	319	+								A1L4Q9|Q6NZ45	Missense_Mutation	SNP	ENST00000548925.1	37	c.303G>C	CCDS8889.2	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759421	0.69763	.	.	ENSG00000258311;ENSG00000258311;ENSG00000135441;ENSG00000135441;ENSG00000135441;ENSG00000135441;ENSG00000135441;ENSG00000135441	ENST00000550412;ENST00000549424;ENST00000257899;ENST00000548925;ENST00000549147;ENST00000547076;ENST00000551926;ENST00000548556	.	.	.	5.58	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.77412	0.4126	M	0.80746	2.51	0.58432	D	0.999996	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.997;0.947	T	0.79522	-0.1769	9	0.87932	D	0	-6.2259	9.0108	0.36139	0.167:0.0:0.833:0.0	.	101;101;101	F8VP73;F8W036;P78537	.;.;BL1S1_HUMAN	H	101;23;73;101;101;23;23;23	.	ENSP00000257899:Q73H	Q	+	3	2	RP11-644F5.10;BLOC1S1	54399226	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.618000	0.54188	1.499000	0.48617	0.655000	0.94253	CAG		0.592	BLOC1S1-001	KNOWN	downstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406681.1	NM_001487		25	77	0	0	0	1	0	25	77				
DNAH1	25981	broad.mit.edu	37	3	52430695	52430695	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52430695G>A	ENST00000420323.2	+	72	11753	c.11492G>A	c.(11491-11493)cGc>cAc	p.R3831H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3896	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCCTGGAGCGCCATAAGTTT	0.577																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(11491-11493)cGc>cAc		dynein, axonemal, heavy chain 1							96.0	98.0	97.0					3																	52430695		2019	4180	6199	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52430695G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11492G>A	3.37:g.52430695G>A	ENSP00000401514:p.Arg3831His						p.R3831H	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	72	11753	+			3896			AAA 6 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.11492G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647681	0.87958	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.30981	1.51	4.49	4.49	0.54785	.	0.000000	0.64402	D	0.000005	T	0.74458	0.3719	H	0.99525	4.61	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.87189	0.2233	10	0.87932	D	0	.	17.3681	0.87369	0.0:0.0:1.0:0.0	.	3831;3896	C9JXH6;Q9P2D7-2	.;.	H	3831;584	ENSP00000401514:R3831H	ENSP00000273600:R584H	R	+	2	0	DNAH1	52405735	1.000000	0.71417	0.974000	0.42286	0.808000	0.45660	9.392000	0.97252	2.326000	0.78906	0.591000	0.81541	CGC		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		5	159	0	0	0	1	0	5	159				
MEMO1	51072	broad.mit.edu	37	2	32108519	32108519	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:32108519C>T	ENST00000295065.5	-	7	902	c.593G>A	c.(592-594)cGt>cAt	p.R198H	MEMO1_ENST00000426310.2_Missense_Mutation_p.R175H|MEMO1_ENST00000404530.1_Missense_Mutation_p.R198H|MEMO1_ENST00000490459.1_Intron|MEMO1_ENST00000379383.3_Missense_Mutation_p.R201H|DPY30_ENST00000446765.1_5'UTR	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	198					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					GTAACTGTAACGGAACCTTTG	0.338																																						ENST00000295065.4																			0				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17						c.(592-594)cGt>cAt		mediator of cell motility 1							152.0	174.0	167.0					2																	32108519		2203	4298	6501	SO:0001583	missense	51072				regulation of microtubule-based process	cytosol|nucleus		g.chr2:32108519C>T	AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.593G>A	2.37:g.32108519C>T	ENSP00000295065:p.Arg198His					MEMO1_ENST00000426310.2_Missense_Mutation_p.R175H|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000490459.1_Intron|MEMO1_ENST00000404530.1_Missense_Mutation_p.R198H|MEMO1_ENST00000379383.3_Missense_Mutation_p.R201H	p.R198H	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN			7	902	-	Acute lymphoblastic leukemia(172;0.155)		198					B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	ENST00000295065.5	37	c.593G>A	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836839	0.32421	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.31	5.31	0.75309	.	0.144534	0.64402	D	0.000005	T	0.52306	0.1726	N	0.25890	0.77	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.10450	0.005;0.002	T	0.42481	-0.9449	9	0.32370	T	0.25	-1.4316	18.9345	0.92580	0.0:1.0:0.0:0.0	.	175;198	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	H	198;201;198;175	.	ENSP00000295065:R198H	R	-	2	0	MEMO1	31962023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.942000	0.70203	2.657000	0.90304	0.585000	0.79938	CGT		0.338	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955		63	209	0	0	0	1	0	63	209				
MFSD6L	162387	broad.mit.edu	37	17	8701401	8701401	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:8701401A>G	ENST00000329805.4	-	1	1266	c.1038T>C	c.(1036-1038)tgT>tgC	p.C346C		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	346						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CCCACTGCTGACAGATGGGAA	0.577																																						ENST00000329805.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						c.(1036-1038)tgT>tgC		major facilitator superfamily domain containing 6-like							70.0	70.0	70.0					17																	8701401		2203	4300	6503	SO:0001819	synonymous_variant	162387					integral to membrane		g.chr17:8701401A>G	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.1038T>C	17.37:g.8701401A>G							p.C346C	NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN			1	1266	-			346					Q6YL34|Q8NA76	Silent	SNP	ENST00000329805.4	37	c.1038T>C	CCDS11146.1																																																																																				0.577	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		18	61	0	0	0	1	0	18	61				
ETFA	2108	broad.mit.edu	37	15	76580213	76580213	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:76580213T>G	ENST00000557943.1	-	5	505	c.425A>C	c.(424-426)gAc>gCc	p.D142A	ETFA_ENST00000560726.1_5'UTR|ETFA_ENST00000433983.2_Missense_Mutation_p.D93A|ETFA_ENST00000560816.1_5'Flank|ETFA_ENST00000559602.1_Missense_Mutation_p.D38A	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	142	Domain I. {ECO:0000269|PubMed:8962055}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						CACAAATGTGTCAGGTGACTT	0.353																																						ENST00000557943.1																			0				endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(424-426)gAc>gCc		electron-transfer-flavoprotein, alpha polypeptide							109.0	95.0	100.0					15																	76580213		2197	4294	6491	SO:0001583	missense	2108				respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr15:76580213T>G	J04058	CCDS32299.1, CCDS45311.1	15q23-q25	2012-04-04	2008-08-01		ENSG00000140374	ENSG00000140374			3481	protein-coding gene	gene with protein product	"""glutaric aciduria II"""	608053					Standard	NM_000126		Approved	GA2, EMA, MADD	uc002bbt.2	P13804	OTTHUMG00000172586	ENST00000557943.1:c.425A>C	15.37:g.76580213T>G	ENSP00000452762:p.Asp142Ala					ETFA_ENST00000560726.1_5'UTR|ETFA_ENST00000433983.2_Missense_Mutation_p.D93A|ETFA_ENST00000559602.1_Missense_Mutation_p.D38A	p.D142A	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN			5	505	-			142					B4DT43|Q53XN3	Missense_Mutation	SNP	ENST00000557943.1	37	c.425A>C	CCDS32299.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.834372	0.91036	.	.	ENSG00000140374	ENST00000433983;ENST00000267950	D	0.88975	-2.45	5.6	5.6	0.85130	Electron transfer flavoprotein, alpha/beta-subunit, N-terminal (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.049838	0.85682	D	0.000000	D	0.93468	0.7916	M	0.76328	2.33	0.80722	D	1	P;D;D	0.65815	0.853;0.995;0.995	B;D;D	0.64144	0.446;0.922;0.922	D	0.94185	0.7435	10	0.87932	D	0	-20.291	14.9672	0.71204	0.0:0.0:0.0:1.0	.	93;142;142	B4DT43;Q53XN3;P13804	.;.;ETFA_HUMAN	A	93;142	ENSP00000399273:D93A	ENSP00000267950:D142A	D	-	2	0	ETFA	74367268	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.600000	0.82769	2.136000	0.66102	0.533000	0.62120	GAC		0.353	ETFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419302.2	NM_000126		20	44	0	0	0	1	0	20	44				
LTBP4	8425	broad.mit.edu	37	19	41122815	41122815	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41122815T>A	ENST00000308370.7	+	23	3034	c.3034T>A	c.(3034-3036)Tat>Aat	p.Y1012N	LTBP4_ENST00000243562.9_Intron|LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.Y945N|LTBP4_ENST00000204005.9_Missense_Mutation_p.Y975N	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1012	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGCCAAGAATATGGTCCCGA	0.567																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(3034-3036)Tat>Aat		latent transforming growth factor beta binding protein 4							54.0	55.0	55.0					19																	41122815		1962	4172	6134	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41122815T>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3034T>A	19.37:g.41122815T>A	ENSP00000311905:p.Tyr1012Asn					LTBP4_ENST00000396819.3_Missense_Mutation_p.Y945N|LTBP4_ENST00000204005.9_Missense_Mutation_p.Y975N|LTBP4_ENST00000243562.9_Intron|LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000602240.1_3'UTR	p.Y1012N	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		23	3034	+			1012			Cys-rich.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.3034T>A		.	.	.	.	.	.	.	.	.	.	T	19.99	3.929169	0.73327	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819	D;T;D	0.87103	-2.21;-1.3;-2.21	4.63	4.63	0.57726	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.000000	0.36444	N	0.002586	D	0.86087	0.5849	N	0.16098	0.37	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.972;0.999;0.999	D	0.84460	0.0593	10	0.27785	T	0.31	.	12.0262	0.53371	0.0:0.0:0.0:1.0	.	945;1012;975	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	N	975;1012;945	ENSP00000204005:Y975N;ENSP00000311905:Y1012N;ENSP00000380031:Y945N	ENSP00000204005:Y975N	Y	+	1	0	LTBP4	45814655	0.984000	0.35163	0.970000	0.41538	0.883000	0.51084	3.931000	0.56529	1.945000	0.56424	0.379000	0.24179	TAT		0.567	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		18	36	0	0	0	1	0	18	36				
NXPH3	11248	broad.mit.edu	37	17	47656067	47656067	+	Missense_Mutation	SNP	C	C	A	rs373145964		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:47656067C>A	ENST00000328741.5	+	2	526	c.164C>A	c.(163-165)cCt>cAt	p.P55H	NXPH3_ENST00000513748.1_Missense_Mutation_p.P55H|RP5-1029K10.4_ENST00000503624.1_RNA	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	55	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CACATCTCACCTAAGTCCCGC	0.697																																						ENST00000328741.5																			0				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12						c.(163-165)cCt>cAt		neurexophilin 3							34.0	37.0	36.0					17																	47656067		2203	4299	6502	SO:0001583	missense	11248				neuropeptide signaling pathway	extracellular region		g.chr17:47656067C>A	AF043468	CCDS11550.1	17q	2008-07-03				ENSG00000182575			8077	protein-coding gene	gene with protein product		604636				9570794	Standard	NM_007225		Approved	NPH3	uc002ipa.3	O95157		ENST00000328741.5:c.164C>A	17.37:g.47656067C>A	ENSP00000329295:p.Pro55His					NXPH3_ENST00000513748.1_Missense_Mutation_p.P55H	p.P55H	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN			2	526	+	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)		55			II.		Q8NDC3|Q8TBF6|Q9ULR1	Missense_Mutation	SNP	ENST00000328741.5	37	c.164C>A	CCDS11550.1	.	.	.	.	.	.	.	.	.	.	c	15.71	2.912953	0.52439	.	.	ENSG00000182575	ENST00000328741;ENST00000513748	.	.	.	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.29524	0.0736	N	0.22421	0.69	0.09310	N	1	P;B	0.35077	0.483;0.015	B;B	0.36186	0.219;0.011	T	0.18808	-1.0325	9	0.34782	T	0.22	-19.0655	11.6842	0.51476	0.0:0.9135:0.0:0.0865	.	55;55	D6RGW2;O95157	.;NXPH3_HUMAN	H	55	.	ENSP00000329295:P55H	P	+	2	0	NXPH3	45011066	0.002000	0.14202	0.998000	0.56505	0.996000	0.88848	1.541000	0.36126	2.364000	0.80123	0.556000	0.70494	CCT		0.697	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365143.1			31	66	1	0	8.16721e-17	1	8.58394e-17	31	66				
FAM47B	170062	broad.mit.edu	37	X	34962126	34962126	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:34962126G>A	ENST00000329357.5	+	1	1214	c.1178G>A	c.(1177-1179)cGg>cAg	p.R393Q		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	393								p.R393Q(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TTTGAGAGTCGGATGCCCCAT	0.587																																						ENST00000329357.5																			1	Substitution - Missense(1)	p.R393Q(1)	upper_aerodigestive_tract(1)	breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1177-1179)cGg>cAg		family with sequence similarity 47, member B							56.0	51.0	53.0					X																	34962126		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962126G>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1178G>A	X.37:g.34962126G>A	ENSP00000328307:p.Arg393Gln						p.R393Q	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	1214	+			393					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1178G>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	1.343	-0.593584	0.03771	.	.	ENSG00000189132	ENST00000329357	T	0.15372	2.43	0.703	-0.729	0.11158	.	.	.	.	.	T	0.08626	0.0214	L	0.31120	0.905	0.09310	N	1	B	0.25235	0.121	B	0.12156	0.007	T	0.41538	-0.9503	8	0.09590	T	0.72	.	.	.	.	.	393	Q8NA70	FA47B_HUMAN	Q	393	ENSP00000328307:R393Q	ENSP00000328307:R393Q	R	+	2	0	FAM47B	34872047	0.007000	0.16637	0.000000	0.03702	0.003000	0.03518	-0.644000	0.05415	-0.345000	0.08325	0.418000	0.28097	CGG		0.587	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		19	29	0	0	0	1	0	19	29				
RFWD3	55159	broad.mit.edu	37	16	74695112	74695112	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:74695112T>C	ENST00000361070.4	-	2	333	c.236A>G	c.(235-237)gAc>gGc	p.D79G	RFWD3_ENST00000571750.1_Missense_Mutation_p.D79G	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	79					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TTCTGTCAGGTCAACAGACAG	0.547																																						ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(235-237)gAc>gGc		ring finger and WD repeat domain 3							137.0	104.0	115.0					16																	74695112		2198	4300	6498	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74695112T>C	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.236A>G	16.37:g.74695112T>C	ENSP00000354361:p.Asp79Gly					RFWD3_ENST00000571750.1_Missense_Mutation_p.D79G	p.D79G	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN			2	333	-			79					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.236A>G	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067547	0.55539	.	.	ENSG00000168411	ENST00000361070;ENST00000444004	T	0.22336	1.96	4.73	2.42	0.29668	.	0.409396	0.22638	N	0.057486	T	0.20007	0.0481	M	0.67953	2.075	0.09310	N	0.999997	B	0.15141	0.012	B	0.11329	0.006	T	0.19386	-1.0307	10	0.41790	T	0.15	-2.3754	5.8032	0.18426	0.0:0.2326:0.0:0.7674	.	79	Q6PCD5	RFWD3_HUMAN	G	79	ENSP00000354361:D79G	ENSP00000354361:D79G	D	-	2	0	RFWD3	73252613	0.102000	0.21896	0.202000	0.23494	0.777000	0.43975	1.206000	0.32321	0.388000	0.25054	0.533000	0.62120	GAC		0.547	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		35	110	0	0	0	1	0	35	110				
IGLV5-52	28779	broad.mit.edu	37	22	22673463	22673463	+	RNA	SNP	C	C	T	rs150977964	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:22673463C>T	ENST00000390289.2	+	0	261				BMS1P20_ENST00000426066.1_RNA					immunoglobulin lambda variable 5-52																		AGTTCCCAGCCGCTTCTCTGG	0.542													.|||	3	0.000599042	0.0	0.0	5008	,	,		19445	0.003		0.0	False		,,,				2504	0.0					ENST00000390289.2																			0																				100.0	104.0	103.0					22																	22673463		1970	4145	6115			28779							g.chr22:22673463C>T	Z73669		22q11.2	2012-02-08			ENSG00000211643	ENSG00000211643		"""Immunoglobulins / IGL locus"""	5926	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151049		22.37:g.22673463C>T						LL22NC03-80A10.6_ENST00000426066.1_RNA								0	261	+									RNA	SNP	ENST00000390289.2	37																																																																																						0.542	IGLV5-52-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321109.1	NG_000002		47	154	0	0	0	1	0	47	154				
OBSCN	84033	broad.mit.edu	37	1	228495962	228495962	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:228495962A>G	ENST00000422127.1	+	47	12661	c.12617A>G	c.(12616-12618)gAg>gGg	p.E4206G	OBSCN_ENST00000366707.4_Missense_Mutation_p.E1840G|OBSCN_ENST00000284548.11_Missense_Mutation_p.E4206G|OBSCN_ENST00000570156.2_Missense_Mutation_p.E5163G|OBSCN_ENST00000366709.4_Missense_Mutation_p.E1325G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4206	Ig-like 43.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGGTGACAGAGGTGGCTGTG	0.617																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(15487-15489)gAg>gGg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							53.0	61.0	58.0					1																	228495962		2145	4226	6371	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228495962A>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12617A>G	1.37:g.228495962A>G	ENSP00000409493:p.Glu4206Gly					OBSCN_ENST00000366707.4_Missense_Mutation_p.E1840G|OBSCN_ENST00000284548.11_Missense_Mutation_p.E4206G|OBSCN_ENST00000422127.1_Missense_Mutation_p.E4206G|OBSCN_ENST00000366709.4_Missense_Mutation_p.E1325G	p.E5163G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			58	15562	+		Prostate(94;0.0405)	4206			Ig-like 49.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.15488A>G	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568180	0.86439	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	6.04	6.04	0.98038	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.067392	0.56097	D	0.000022	T	0.80819	0.4696	M	0.72479	2.2	0.49299	D	0.999778	D;D	0.89917	0.961;1.0	P;D	0.74348	0.721;0.983	T	0.81033	-0.1116	10	0.48119	T	0.1	.	16.25	0.82478	1.0:0.0:0.0:0.0	.	4206;4206	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	G	4206;4206;1840;1325	ENSP00000284548:E4206G;ENSP00000409493:E4206G;ENSP00000355668:E1840G;ENSP00000355670:E1325G	ENSP00000284548:E4206G	E	+	2	0	OBSCN	226562585	1.000000	0.71417	0.340000	0.25575	0.345000	0.29048	3.805000	0.55575	2.317000	0.78254	0.460000	0.39030	GAG		0.617	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		3	52	0	0	0	1	0	3	52				
FBXL8	55336	broad.mit.edu	37	16	67195837	67195837	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67195837T>A	ENST00000258200.3	+	2	326	c.149T>A	c.(148-150)aTc>aAc	p.I50N	HSF4_ENST00000521374.1_5'Flank|TRADD_ENST00000566104.1_5'Flank|HSF4_ENST00000584272.1_5'Flank|HSF4_ENST00000421453.1_5'Flank|FBXL8_ENST00000519917.1_Missense_Mutation_p.I50N|RP11-5A19.5_ENST00000518227.1_5'Flank|HSF4_ENST00000264009.8_5'Flank|FBXL8_ENST00000521920.1_Missense_Mutation_p.I50N|FBXL8_ENST00000518148.1_Missense_Mutation_p.I50N|TRADD_ENST00000345057.4_5'Flank			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	50										endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		GACACAAAAATCAGGTGAGCC	0.632																																						ENST00000258200.3																			0				endometrium(1)	1						c.(148-150)aTc>aAc		F-box and leucine-rich repeat protein 8							31.0	35.0	34.0					16																	67195837		2196	4300	6496	SO:0001583	missense	55336						protein binding	g.chr16:67195837T>A	AK002140	CCDS10831.1	16q22.1-q22.3	2013-01-22			ENSG00000135722	ENSG00000135722		"""F-boxes / Leucine-rich repeats"""	17875	protein-coding gene	gene with protein product		609077					Standard	NM_018378		Approved	Fbl8	uc002erk.1	Q96CD0	OTTHUMG00000137514	ENST00000258200.3:c.149T>A	16.37:g.67195837T>A	ENSP00000258200:p.Ile50Asn					FBXL8_ENST00000521920.1_Missense_Mutation_p.I50N|FBXL8_ENST00000518148.1_Missense_Mutation_p.I50N|FBXL8_ENST00000519917.1_Missense_Mutation_p.I50N	p.I50N			Q96CD0	FBXL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)	2	326	+		Ovarian(137;0.0563)	50					Q9NUM0	Missense_Mutation	SNP	ENST00000258200.3	37	c.149T>A	CCDS10831.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.402616	0.83230	.	.	ENSG00000135722	ENST00000258200;ENST00000518148;ENST00000519917;ENST00000517382;ENST00000521920;ENST00000523893;ENST00000519378	T;T;T;T;T	0.56776	0.44;0.56;0.56;1.89;1.89	5.92	5.92	0.95590	.	0.164448	0.40554	N	0.001071	T	0.72407	0.3456	M	0.83953	2.67	0.46927	D	0.999255	D	0.59767	0.986	D	0.64321	0.924	T	0.76647	-0.2882	10	0.66056	D	0.02	-17.8129	13.7276	0.62767	0.0:0.0:0.0:1.0	.	50	Q96CD0	FBXL8_HUMAN	N	50	ENSP00000464169:I50N;ENSP00000430745:I50N;ENSP00000427895:I50N;ENSP00000428379:I50N;ENSP00000430027:I50N	ENSP00000258200:I50N	I	+	2	0	FBXL8	65753338	1.000000	0.71417	0.987000	0.45799	0.738000	0.42128	5.583000	0.67484	2.265000	0.75225	0.459000	0.35465	ATC		0.632	FBXL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268834.2			5	15	0	0	0	1	0	5	15				
IL1RAPL1	11141	broad.mit.edu	37	X	29301191	29301191	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:29301191T>C	ENST00000378993.1	+	3	892	c.219T>C	c.(217-219)agT>agC	p.S73S	IL1RAPL1_ENST00000302196.4_Silent_p.S73S	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	73	Ig-like C2-type 1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CTGGACTCAGTTTGATGTGGT	0.428																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(217-219)agT>agC		interleukin 1 receptor accessory protein-like 1							154.0	132.0	140.0					X																	29301191		2202	4300	6502	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29301191T>C	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.219T>C	X.37:g.29301191T>C						IL1RAPL1_ENST00000302196.4_Silent_p.S73S	p.S73S	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			3	892	+			73			Ig-like C2-type 1.		A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.219T>C	CCDS14218.1																																																																																				0.428	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		18	35	0	0	0	1	0	18	35				
TERF2IP	54386	broad.mit.edu	37	16	75681828	75681828	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:75681828T>C	ENST00000300086.4	+	1	145	c.48T>C	c.(46-48)caT>caC	p.H16H	KARS_ENST00000302445.3_5'Flank|KARS_ENST00000319410.5_5'Flank|KARS_ENST00000568378.1_5'Flank	NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	16					negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						GGCCCACCCATTCCTCGACTC	0.652																																						ENST00000300086.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(46-48)caT>caC		telomeric repeat binding factor 2, interacting protein							55.0	49.0	51.0					16																	75681828		2198	4300	6498	SO:0001819	synonymous_variant	54386				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding	g.chr16:75681828T>C	AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.48T>C	16.37:g.75681828T>C							p.H16H	NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN			1	145	+			16					B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	Silent	SNP	ENST00000300086.4	37	c.48T>C	CCDS32491.1																																																																																				0.652	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1	NM_018975		18	57	0	0	0	1	0	18	57				
RET	5979	broad.mit.edu	37	10	43606836	43606836	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:43606836A>G	ENST00000355710.3	+	7	1677	c.1445A>G	c.(1444-1446)cAc>cGc	p.H482R	RET_ENST00000340058.5_Missense_Mutation_p.H482R	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	482					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GCCGAACTTCACTACATGGTG	0.632		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(1444-1446)cAc>cGc		ret proto-oncogene	Sunitinib(DB01268)						61.0	56.0	58.0					10																	43606836		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43606836A>G	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1445A>G	10.37:g.43606836A>G	ENSP00000347942:p.His482Arg					RET_ENST00000340058.5_Missense_Mutation_p.H482R	p.H482R	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			7	1677	+		Ovarian(717;0.0423)	482					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.1445A>G	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	A	4.840	0.156175	0.09236	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.77750	-1.0;-1.12	5.74	3.37	0.38596	.	0.440602	0.27371	N	0.019665	T	0.53206	0.1782	N	0.14661	0.345	0.21473	N	0.999679	B;B;B	0.20459	0.004;0.045;0.007	B;B;B	0.17979	0.009;0.013;0.02	T	0.35919	-0.9769	10	0.06891	T	0.86	.	5.6947	0.17849	0.7392:0.0:0.1368:0.124	.	228;482;482	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	R	482	ENSP00000347942:H482R;ENSP00000344798:H482R	ENSP00000344798:H482R	H	+	2	0	RET	42926842	0.991000	0.36638	0.895000	0.35142	0.056000	0.15407	2.343000	0.44001	0.998000	0.38996	0.533000	0.62120	CAC		0.632	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		4	76	0	0	0	1	0	4	76				
HYOU1	10525	broad.mit.edu	37	11	118916308	118916308	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:118916308T>C	ENST00000404233.3	-	26	3121	c.2997A>G	c.(2995-2997)ctA>ctG	p.L999L	HYOU1_ENST00000525859.1_Silent_p.L937L|HYOU1_ENST00000529972.1_Silent_p.L937L|RP11-110I1.6_ENST00000531886.1_RNA	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	999					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GTGGGGGTTATAGTTCGTCGT	0.522																																						ENST00000404233.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33						c.(2995-2997)ctA>ctG		hypoxia up-regulated 1							131.0	134.0	133.0					11																	118916308		2200	4295	6495	SO:0001819	synonymous_variant	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118916308T>C	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2997A>G	11.37:g.118916308T>C						HYOU1_ENST00000529972.1_Silent_p.L937L|HYOU1_ENST00000525859.1_Silent_p.L937L	p.L999L	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	26	3121	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	999					A8C1Z0|B7Z909|Q2I204|Q53H25	Silent	SNP	ENST00000404233.3	37	c.2997A>G	CCDS8408.1																																																																																				0.522	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		7	182	0	0	0	1	0	7	182				
PDCD11	22984	broad.mit.edu	37	10	105201725	105201725	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:105201725A>G	ENST00000369797.3	+	31	4794	c.4700A>G	c.(4699-4701)cAa>cGa	p.Q1567R		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1567					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AAGCCACACCAAGCCACGGTG	0.557																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(4699-4701)cAa>cGa		programmed cell death 11							62.0	74.0	70.0					10																	105201725		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105201725A>G	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4700A>G	10.37:g.105201725A>G	ENSP00000358812:p.Gln1567Arg						p.Q1567R	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	31	4794	+		Colorectal(252;0.0747)|Breast(234;0.128)	1567					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.4700A>G	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.573574	0.28092	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.10382	2.88	5.57	4.43	0.53597	.	0.759101	0.13194	N	0.406483	T	0.08714	0.0216	L	0.27053	0.805	0.42659	D	0.993473	B	0.26195	0.144	B	0.18263	0.021	T	0.20806	-1.0264	10	0.27082	T	0.32	-2.639	12.4734	0.55799	0.848:0.152:0.0:0.0	.	1567	Q14690	RRP5_HUMAN	R	1567;1225	ENSP00000358812:Q1567R	ENSP00000358812:Q1567R	Q	+	2	0	PDCD11	105191715	0.628000	0.27138	0.707000	0.30419	0.773000	0.43773	3.149000	0.50655	0.939000	0.37446	0.459000	0.35465	CAA		0.557	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			12	57	0	0	0	1	0	12	57				
ZIC2	7546	broad.mit.edu	37	13	100635069	100635069	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:100635069T>C	ENST00000376335.3	+	1	1044	c.751T>C	c.(751-753)Tgc>Cgc	p.C251R		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	251	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.				brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCGGCAGCAGTGCATCAAGCA	0.557																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(751-753)Tgc>Cgc		Zic family member 2							85.0	86.0	86.0					13																	100635069		2203	4300	6503	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635069T>C	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.751T>C	13.37:g.100635069T>C	ENSP00000365514:p.Cys251Arg						p.C251R	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	1044	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		251			Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).		Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.751T>C	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.647075	0.47258	.	.	ENSG00000043355	ENST00000376335	T	0.11277	2.79	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.25121	0.0610	L	0.47716	1.5	0.80722	D	1	D	0.57571	0.98	D	0.69142	0.962	T	0.00697	-1.1605	10	0.59425	D	0.04	.	14.0708	0.64858	0.0:0.0:0.0:1.0	.	251	O95409	ZIC2_HUMAN	R	251	ENSP00000365514:C251R	ENSP00000365514:C251R	C	+	1	0	ZIC2	99433070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.035000	0.70940	2.064000	0.61679	0.459000	0.35465	TGC		0.557	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		5	154	0	0	0	1	0	5	154				
LRP2	4036	broad.mit.edu	37	2	170058296	170058296	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:170058296T>C	ENST00000263816.3	-	44	8579	c.8294A>G	c.(8293-8295)gAc>gGc	p.D2765G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2765	LDL-receptor class A 17. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATCACCACAGTCATTGTAGTA	0.498																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(8293-8295)gAc>gGc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						162.0	136.0	145.0					2																	170058296		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170058296T>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8294A>G	2.37:g.170058296T>C	ENSP00000263816:p.Asp2765Gly						p.D2765G	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	44	8579	-			2765			LDL-receptor class A 17.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.8294A>G	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.969054	0.92855	.	.	ENSG00000081479	ENST00000263816	D	0.98947	-5.26	5.7	5.7	0.88788	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.044045	0.85682	D	0.000000	D	0.99354	0.9773	H	0.96518	3.835	0.80722	D	1	D	0.69078	0.997	P	0.62014	0.897	D	0.98630	1.0671	10	0.72032	D	0.01	.	15.9722	0.80027	0.0:0.0:0.0:1.0	.	2765	P98164	LRP2_HUMAN	G	2765	ENSP00000263816:D2765G	ENSP00000263816:D2765G	D	-	2	0	LRP2	169766542	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.919000	0.87513	2.169000	0.68431	0.528000	0.53228	GAC		0.498	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		26	60	0	0	0	1	0	26	60				
CCZ1B	221960	broad.mit.edu	37	7	6864105	6864105	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:6864105T>C	ENST00000316731.8	-	3	865	c.293A>G	c.(292-294)gAa>gGa	p.E98G	CCZ1B_ENST00000538180.1_Intron	NM_198097.3	NP_932765.1	P86790	CCZ1B_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)	98						lysosome (GO:0005764)|membrane (GO:0016020)											CCAGAAATTTTCTTCTGGTTC	0.338																																						ENST00000316731.8																			0											c.(292-294)gAa>gGa		CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)							65.0	67.0	66.0					7																	6864105		2161	4288	6449	SO:0001583	missense	221960					lysosomal membrane		g.chr7:6864105T>C	BC010130	CCDS5354.1	7p22.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000146574	ENSG00000146574			21717	protein-coding gene	gene with protein product	"""similar to CGI-43 protein"""		"""chromosome 7 open reading frame 28B"""	C7orf28B		12477932	Standard	NM_198097		Approved	DKFZP586I1023, H_NH0577018.2, MGC19819	uc003sqx.2	P86790	OTTHUMG00000152441	ENST00000316731.8:c.293A>G	7.37:g.6864105T>C	ENSP00000314544:p.Glu98Gly					CCZ1B_ENST00000538180.1_Intron	p.E98G	NM_198097.3	NP_932765.1	P86790	CCZ1L_HUMAN			3	865	-			98					A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	ENST00000316731.8	37	c.293A>G	CCDS5354.1	.	.	.	.	.	.	.	.	.	.	.	3.734	-0.055050	0.07362	.	.	ENSG00000146574	ENST00000316731	.	.	.	2.63	-0.0205	0.13955	.	0.290613	0.37095	N	0.002245	T	0.36276	0.0961	.	.	.	0.80722	D	1	B	0.32128	0.357	B	0.34590	0.186	T	0.03875	-1.0996	8	0.29301	T	0.29	-8.8794	5.9292	0.19130	0.0:0.2627:0.0:0.7373	.	98	P86791	CCZ1_HUMAN	G	98	.	ENSP00000314544:E98G	E	-	2	0	C7orf28B	6830630	1.000000	0.71417	0.768000	0.31515	0.156000	0.22039	4.412000	0.59787	-0.115000	0.11915	-1.285000	0.01374	GAA		0.338	CCZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246858.1	NM_198097		28	90	0	0	0	1	0	28	90				
EPHA6	285220	broad.mit.edu	37	3	97185296	97185296	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:97185296C>T	ENST00000514100.1	+	4	282	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F	EPHA6_ENST00000502694.1_Missense_Mutation_p.L14F|EPHA6_ENST00000389672.5_Intron|EPHA6_ENST00000442602.2_Intron	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						actgtactggcttaatgaaaa	0.433																																						ENST00000514100.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(40-42)Ctt>Ttt		EPH receptor A6							115.0	109.0	111.0					3																	97185296		1851	4099	5950	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97185296C>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.40C>T	3.37:g.97185296C>T	ENSP00000421711:p.Leu14Phe					EPHA6_ENST00000389672.5_Intron|EPHA6_ENST00000502694.1_Missense_Mutation_p.L14F|EPHA6_ENST00000442602.2_Intron	p.L14F	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN			4	282	+			0					D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37	c.40C>T		.	.	.	.	.	.	.	.	.	.	C	6.455	0.452032	0.12283	.	.	ENSG00000080224	ENST00000514100;ENST00000502694	D;D	0.83992	-1.79;-1.52	3.48	-1.5	0.08691	.	.	.	.	.	T	0.63177	0.2489	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.49908	-0.8889	9	0.02654	T	1	.	7.3518	0.26695	0.0:0.3644:0.0:0.6356	.	14;14	Q9UF33-2;D6RAL5	.;.	F	14	ENSP00000421711:L14F;ENSP00000423950:L14F	ENSP00000423950:L14F	L	+	1	0	EPHA6	98667986	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.426000	0.07008	-0.384000	0.07845	0.603000	0.83216	CTT		0.433	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		11	54	0	0	0	1	0	11	54				
TRIM54	57159	broad.mit.edu	37	2	27528642	27528642	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:27528642C>T	ENST00000380075.2	+	5	1140	c.800C>T	c.(799-801)gCc>gTc	p.A267V	TRIM54_ENST00000296098.4_Missense_Mutation_p.A309V	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	267					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGAGTCTGCCATCCAGTCC	0.642																																						ENST00000296098.4																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(925-927)gCc>gTc		tripartite motif containing 54							31.0	29.0	30.0					2																	27528642		2203	4300	6503	SO:0001583	missense	57159				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	g.chr2:27528642C>T	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.800C>T	2.37:g.27528642C>T	ENSP00000369415:p.Ala267Val					TRIM54_ENST00000380075.2_Missense_Mutation_p.A267V	p.A309V	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN			6	1196	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		267			COS.		A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	c.926C>T	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889828	0.72524	.	.	ENSG00000138100	ENST00000380075;ENST00000380073;ENST00000296098	T;T	0.50548	1.03;0.74	4.85	4.85	0.62838	.	0.061993	0.64402	D	0.000005	T	0.59756	0.2217	L	0.59436	1.845	0.58432	D	0.999998	P;P	0.48764	0.694;0.915	B;P	0.55577	0.314;0.779	T	0.63633	-0.6593	10	0.66056	D	0.02	-12.4395	15.4542	0.75299	0.0:1.0:0.0:0.0	.	267;309	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	V	267;88;309	ENSP00000369415:A267V;ENSP00000296098:A309V	ENSP00000296098:A309V	A	+	2	0	TRIM54	27382146	1.000000	0.71417	0.995000	0.50966	0.141000	0.21300	2.056000	0.41355	2.235000	0.73313	0.561000	0.74099	GCC		0.642	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841		7	13	0	0	0	1	0	7	13				
RB1CC1	9821	broad.mit.edu	37	8	53574192	53574192	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:53574192T>A	ENST00000025008.5	-	9	1784	c.1261A>T	c.(1261-1263)Atg>Ttg	p.M421L	RB1CC1_ENST00000539297.1_Missense_Mutation_p.M421L|RB1CC1_ENST00000435644.2_Missense_Mutation_p.M421L|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	421					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AACATAATCATCAACTGATTT	0.348																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(1261-1263)Atg>Ttg		RB1-inducible coiled-coil 1							158.0	151.0	154.0					8																	53574192		2203	4300	6503	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53574192T>A	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1261A>T	8.37:g.53574192T>A	ENSP00000025008:p.Met421Leu					RB1CC1_ENST00000539297.1_Missense_Mutation_p.M421L|RB1CC1_ENST00000435644.2_Missense_Mutation_p.M421L|RB1CC1_ENST00000521611.1_Intron	p.M421L	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			9	1784	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	421					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.1261A>T	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.176310	0.38413	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.14391	2.51;2.51;2.51	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	L	0.37630	1.12	0.58432	D	0.999999	P;P	0.48407	0.91;0.855	D;P	0.62955	0.909;0.813	T	0.01670	-1.1299	10	0.02654	T	1	-19.4263	15.1078	0.72334	0.0:0.0:0.0:1.0	.	421;421	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	L	421	ENSP00000025008:M421L;ENSP00000396067:M421L;ENSP00000445960:M421L	ENSP00000025008:M421L	M	-	1	0	RB1CC1	53736745	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.145000	0.71769	2.032000	0.59987	0.528000	0.53228	ATG		0.348	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		5	138	0	0	0	1	0	5	138				
IGF2	3481	broad.mit.edu	37	11	2154836	2154836	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:2154836G>A	ENST00000416167.2	-	3	1383	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	IGF2_ENST00000418738.2_Missense_Mutation_p.R73C|IGF2_ENST00000381389.1_Missense_Mutation_p.R73C|IGF2_ENST00000381395.1_Missense_Mutation_p.R73C|IGF2_ENST00000434045.2_Missense_Mutation_p.R129C|IGF2_ENST00000381392.1_Missense_Mutation_p.R76C|IGF2_ENST00000381406.4_Missense_Mutation_p.R76C|MIR483_ENST00000385070.1_RNA|IGF2_ENST00000300632.5_Missense_Mutation_p.R73C			P01344	IGF2_HUMAN	insulin-like growth factor 2	73	A.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TCACAGCTGCGGAAACAGCAC	0.657																																						ENST00000416167.2																			0				central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6						c.(217-219)Cgc>Tgc		insulin-like growth factor 2 (somatomedin A)							58.0	46.0	50.0					11																	2154836		2202	4299	6501	SO:0001583	missense	3481				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity	g.chr11:2154836G>A	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.217C>T	11.37:g.2154836G>A	ENSP00000414497:p.Arg73Cys					IGF2_ENST00000418738.2_Missense_Mutation_p.R73C|IGF2_ENST00000434045.2_Missense_Mutation_p.R129C|IGF2_ENST00000381406.4_Missense_Mutation_p.R76C|IGF2_ENST00000337883.6_Missense_Mutation_p.R73C|IGF2_ENST00000381392.1_Missense_Mutation_p.R76C|IGF2_ENST00000381395.1_Missense_Mutation_p.R73C|IGF2_ENST00000300632.5_Missense_Mutation_p.R73C|IGF2_ENST00000381389.1_Missense_Mutation_p.R73C	p.R73C			P01344	IGF2_HUMAN	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	3	1383	-		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	73			A.		B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Missense_Mutation	SNP	ENST00000416167.2	37	c.217C>T	CCDS7728.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509455	0.64522	.	.	ENSG00000167244	ENST00000381395;ENST00000381406;ENST00000416167;ENST00000300632;ENST00000381319;ENST00000434045;ENST00000381392;ENST00000381389;ENST00000418738;ENST00000337883;ENST00000381379	D;D;D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	3.16	1.19	0.21007	Insulin, conserved site (1);Insulin-like (4);	0.000000	0.85682	U	0.000000	D	0.91290	0.7254	M	0.73430	2.235	0.80722	D	1	B;D	0.89917	0.433;1.0	B;D	0.63192	0.091;0.912	D	0.88600	0.3149	10	0.72032	D	0.01	-0.471	6.1763	0.20444	0.105:0.0:0.7107:0.1843	.	129;73	C9JAF2;P01344	.;IGF2_HUMAN	C	73;76;73;73;76;129;76;73;73;73;76	ENSP00000370802:R73C;ENSP00000370813:R76C;ENSP00000414497:R73C;ENSP00000300632:R73C;ENSP00000391826:R129C;ENSP00000370799:R76C;ENSP00000370796:R73C;ENSP00000402047:R73C;ENSP00000338297:R73C	ENSP00000300632:R73C	R	-	1	0	IGF2	2111412	1.000000	0.71417	0.986000	0.45419	0.990000	0.78478	5.702000	0.68332	0.190000	0.20209	0.450000	0.29827	CGC		0.657	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026053.2	NM_000612		17	33	0	0	0	1	0	17	33				
SNRNP27	11017	broad.mit.edu	37	2	70123669	70123669	+	Missense_Mutation	SNP	G	G	A	rs139699067		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:70123669G>A	ENST00000244227.3	+	3	682	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	SNRNP27_ENST00000409116.1_Missense_Mutation_p.R86Q|SNRNP27_ENST00000488986.1_3'UTR	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	86					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						aGCAAAGAACGGCAGATTACT	0.328																																						ENST00000244227.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(256-258)cGg>cAg		small nuclear ribonucleoprotein 27kDa (U4/U6.U5)		G	GLN/ARG	2,4396	4.2+/-10.8	0,2,2197	40.0	42.0	42.0		257	5.3	1.0	2	dbSNP_134	42	6,8592	5.0+/-18.6	0,6,4293	yes	missense	SNRNP27	NM_006857.2	43	0,8,6490	AA,AG,GG		0.0698,0.0455,0.0616	possibly-damaging	86/156	70123669	8,12988	2199	4299	6498	SO:0001583	missense	11017				mRNA processing|RNA splicing	nucleus	nucleic acid binding	g.chr2:70123669G>A	X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"""nucleic acid binding protein RY 1"""					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.257G>A	2.37:g.70123669G>A	ENSP00000244227:p.Arg86Gln					SNRNP27_ENST00000409116.1_Missense_Mutation_p.R86Q|SNRNP27_ENST00000488986.1_3'UTR	p.R86Q	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN			3	682	+			86					Q15410	Missense_Mutation	SNP	ENST00000244227.3	37	c.257G>A	CCDS33219.1	.	.	.	.	.	.	.	.	.	.	g	15.82	2.947529	0.53186	4.55E-4	6.98E-4	ENSG00000124380	ENST00000244227;ENST00000409116	T;T	0.27720	1.65;1.65	5.28	5.28	0.74379	Domain of unknown function DUF1777 (1);	0.162035	0.56097	D	0.000034	T	0.46347	0.1388	L	0.55990	1.75	0.45718	D	0.998622	D;P	0.69078	0.997;0.913	D;P	0.70227	0.968;0.553	T	0.13282	-1.0515	10	0.13853	T	0.58	.	14.285	0.66240	0.0:0.0:1.0:0.0	.	86;86	B8ZZ98;Q8WVK2	.;SNR27_HUMAN	Q	86	ENSP00000244227:R86Q;ENSP00000386608:R86Q	ENSP00000244227:R86Q	R	+	2	0	SNRNP27	69977173	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	2.681000	0.46926	2.750000	0.94351	0.585000	0.79938	CGG		0.328	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327369.1	NM_006857		4	41	0	0	0	1	0	4	41				
ATP1A3	478	broad.mit.edu	37	19	42492485	42492485	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:42492485G>T	ENST00000302102.5	-	3	288	c.138C>A	c.(136-138)aaC>aaA	p.N46K	ATP1A3_ENST00000602133.1_Missense_Mutation_p.N16K|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000545399.1_Missense_Mutation_p.N59K|ATP1A3_ENST00000543770.1_Missense_Mutation_p.N57K	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	46					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CACAGTCTGTGTTGTATTTCC	0.617																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(175-177)aaC>aaA		ATPase, Na+/K+ transporting, alpha 3 polypeptide							152.0	150.0	150.0					19																	42492485		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42492485G>T		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.138C>A	19.37:g.42492485G>T	ENSP00000302397:p.Asn46Lys					ATP1A3_ENST00000302102.5_Missense_Mutation_p.N46K|ATP1A3_ENST00000543770.1_Missense_Mutation_p.N57K|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000602133.1_Missense_Mutation_p.N16K	p.N59K	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			3	330	-			46					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.177C>A	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803431	0.31869	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770;ENST00000448429	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.62	2.46	0.29980	ATPase, P-type cation-transporter, N-terminal (2);	0.291939	0.30446	N	0.009604	T	0.57359	0.2048	N	0.17248	0.465	0.44816	D	0.997827	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.14023	0.002;0.003;0.01;0.005	T	0.39742	-0.9599	10	0.22706	T	0.39	.	6.6431	0.22921	0.3105:0.0:0.6895:0.0	.	59;57;46;46	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	K	46;46;59;16;57;59	ENSP00000302397:N46K;ENSP00000411503:N46K;ENSP00000444688:N59K;ENSP00000437577:N57K	ENSP00000302397:N46K	N	-	3	2	ATP1A3	47184325	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	1.285000	0.33261	0.501000	0.28013	-0.443000	0.05667	AAC		0.617	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		5	294	1	0	4.096e-09	1	4.23106e-09	5	294				
HERC2	8924	broad.mit.edu	37	15	28502276	28502276	+	Silent	SNP	G	G	A	rs12903263	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:28502276G>A	ENST00000261609.7	-	17	2556	c.2448C>T	c.(2446-2448)tcC>tcT	p.S816S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCAGTCCGCGGAACCATCCA	0.552													G|||	25	0.00499201	0.0174	0.0014	5008	,	,		16931	0.0		0.001	False		,,,				2504	0.0					ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(2446-2448)tcC>tcT		HECT and RLD domain containing E3 ubiquitin protein ligase 2		G		88,4318	73.1+/-111.1	0,88,2115	61.0	52.0	55.0		2448	-9.5	0.5	15	dbSNP_121	55	10,8584	8.4+/-32.0	0,10,4287	no	coding-synonymous	HERC2	NM_004667.4		0,98,6402	AA,AG,GG		0.1164,1.9973,0.7538		816/4835	28502276	98,12902	2203	4297	6500	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28502276G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.2448C>T	15.37:g.28502276G>A							p.S816S	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	17	2556	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	816						Silent	SNP	ENST00000261609.7	37	c.2448C>T	CCDS10021.1																																																																																				0.552	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		33	92	0	0	0	1	0	33	92				
TGM6	343641	broad.mit.edu	37	20	2377243	2377243	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:2377243A>G	ENST00000202625.2	+	4	577	c.516A>G	c.(514-516)atA>atG	p.I172M	TGM6_ENST00000381423.1_Missense_Mutation_p.I172M|TGM6_ENST00000477505.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	172					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGAAGCACATACGAGCCCAGG	0.617																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(514-516)atA>atG		transglutaminase 6	L-Glutamine(DB00130)						81.0	75.0	77.0					20																	2377243		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2377243A>G	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.516A>G	20.37:g.2377243A>G	ENSP00000202625:p.Ile172Met					TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Missense_Mutation_p.I172M	p.I172M	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			4	577	+			172					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.516A>G	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.938928	0.73557	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.92348	-3.02;-3.02	5.08	2.08	0.27032	.	0.112392	0.64402	D	0.000018	D	0.94676	0.8283	M	0.79926	2.475	0.35989	D	0.83657	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.986	D	0.93817	0.7115	10	0.87932	D	0	-35.3515	6.0714	0.19891	0.156:0.6875:0.0:0.1565	.	172;172	O95932-2;O95932	.;TGM3L_HUMAN	M	172	ENSP00000202625:I172M;ENSP00000370831:I172M	ENSP00000202625:I172M	I	+	3	3	TGM6	2325243	0.905000	0.30787	1.000000	0.80357	0.989000	0.77384	1.481000	0.35476	0.323000	0.23307	-0.168000	0.13345	ATA		0.617	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		17	36	0	0	0	1	0	17	36				
OSBPL11	114885	broad.mit.edu	37	3	125271230	125271230	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:125271230A>T	ENST00000296220.5	-	9	1738	c.1449T>A	c.(1447-1449)aaT>aaA	p.N483K		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	483					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						AAGGAGCATGATTTGTGACTC	0.468																																						ENST00000296220.5																			0				NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.(1447-1449)aaT>aaA		oxysterol binding protein-like 11							94.0	85.0	88.0					3																	125271230		2203	4300	6503	SO:0001583	missense	114885				lipid transport		lipid binding	g.chr3:125271230A>T	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1449T>A	3.37:g.125271230A>T	ENSP00000296220:p.Asn483Lys						p.N483K	NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN			9	1738	-			483					A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	c.1449T>A	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	A	2.132	-0.398851	0.04865	.	.	ENSG00000144909	ENST00000296220	T	0.16324	2.35	4.49	1.94	0.25998	.	0.707250	0.13947	N	0.351784	T	0.07143	0.0181	N	0.14661	0.345	0.25122	N	0.990636	B	0.16396	0.017	B	0.19391	0.025	T	0.39333	-0.9619	10	0.10111	T	0.7	-1.5315	2.129	0.03746	0.5756:0.1401:0.1623:0.1219	.	483	Q9BXB4	OSB11_HUMAN	K	483	ENSP00000296220:N483K	ENSP00000296220:N483K	N	-	3	2	OSBPL11	126753920	0.998000	0.40836	0.607000	0.28956	0.928000	0.56348	0.668000	0.25127	0.721000	0.32231	0.482000	0.46254	AAT		0.468	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		28	39	0	0	0	1	0	28	39				
B3GNT7	93010	broad.mit.edu	37	2	232262574	232262574	+	Silent	SNP	C	C	A	rs532531850		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:232262574C>A	ENST00000287590.5	+	2	405	c.144C>A	c.(142-144)gcC>gcA	p.A48A	AC017104.6_ENST00000415129.1_RNA|B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	48					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CACAGAAGGCCCAGAAGCCAA	0.642																																						ENST00000287590.5																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(142-144)gcC>gcA		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7							36.0	44.0	42.0					2																	232262574		2012	4173	6185	SO:0001819	synonymous_variant	93010				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr2:232262574C>A	AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.144C>A	2.37:g.232262574C>A						B3GNT7_ENST00000479618.1_3'UTR	p.A48A	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)	2	405	+		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	48					B3KWY4|B7WNP0	Silent	SNP	ENST00000287590.5	37	c.144C>A	CCDS46540.1																																																																																				0.642	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332827.1	NM_145236		19	56	1	0	3.32936e-07	1	3.41723e-07	19	56				
IFI35	3430	broad.mit.edu	37	17	41166213	41166213	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:41166213T>C	ENST00000415816.2	+	7	981	c.758T>C	c.(757-759)aTc>aCc	p.I253T	IFI35_ENST00000438323.2_Missense_Mutation_p.I255T	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	253					cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GTCCTGGAGATCCACTTCCAG	0.612																																						ENST00000415816.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8						c.(757-759)aTc>aCc		interferon-induced protein 35							73.0	72.0	72.0					17																	41166213		2203	4300	6503	SO:0001583	missense	3430				response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding	g.chr17:41166213T>C	BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.758T>C	17.37:g.41166213T>C	ENSP00000394579:p.Ile253Thr					IFI35_ENST00000438323.2_Missense_Mutation_p.I255T	p.I253T	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.157)	7	981	+		Breast(137;0.00499)	253					C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	ENST00000415816.2	37	c.758T>C		.	.	.	.	.	.	.	.	.	.	T	14.09	2.432314	0.43122	.	.	ENSG00000068079	ENST00000415816;ENST00000438323	T;T	0.52983	0.64;0.64	5.8	5.8	0.92144	Nmi/IFP 35 (1);	0.254563	0.39274	N	0.001407	T	0.59878	0.2226	M	0.77820	2.39	0.38175	D	0.939433	P	0.41748	0.761	P	0.48368	0.575	T	0.68792	-0.5315	10	0.87932	D	0	.	13.5224	0.61576	0.0:0.0:0.0:1.0	.	253	P80217	IN35_HUMAN	T	253;255	ENSP00000394579:I253T;ENSP00000395590:I255T	ENSP00000394579:I253T	I	+	2	0	IFI35	38419739	1.000000	0.71417	0.995000	0.50966	0.264000	0.26372	6.050000	0.71063	2.217000	0.71921	0.379000	0.24179	ATC		0.612	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533		31	89	0	0	0	1	0	31	89				
ARFGEF2	10564	broad.mit.edu	37	20	47635470	47635470	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:47635470C>G	ENST00000371917.4	+	34	4559	c.4559C>G	c.(4558-4560)tCt>tGt	p.S1520C		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1520					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)			AAAAATCCCTCTGAGAGGGGA	0.413																																					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.(4558-4560)tCt>tGt		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							78.0	76.0	77.0					20																	47635470		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.chr20:47635470C>G	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.4559C>G	20.37:g.47635470C>G	ENSP00000360985:p.Ser1520Cys						p.S1520C	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		34	4559	+			1520					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.4559C>G	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.821315	0.71028	.	.	ENSG00000124198	ENST00000371917	T	0.46819	0.86	4.92	4.92	0.64577	Armadillo-type fold (1);	0.705043	0.14321	N	0.326981	T	0.50905	0.1643	L	0.55481	1.735	0.58432	D	0.999998	P	0.38300	0.626	B	0.41299	0.353	T	0.55471	-0.8136	10	0.62326	D	0.03	.	16.6604	0.85239	0.0:1.0:0.0:0.0	.	1520	Q9Y6D5	BIG2_HUMAN	C	1520	ENSP00000360985:S1520C	ENSP00000360985:S1520C	S	+	2	0	ARFGEF2	47068877	1.000000	0.71417	0.978000	0.43139	0.988000	0.76386	7.192000	0.77771	2.425000	0.82216	0.462000	0.41574	TCT		0.413	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		14	37	0	0	0	1	0	14	37				
RSL24D1	51187	broad.mit.edu	37	15	55484953	55484953	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:55484953C>T	ENST00000260443.4	-	2	336	c.160G>A	c.(160-162)Gca>Aca	p.A54T	RSL24D1_ENST00000565854.1_5'UTR	NM_016304.2	NP_057388.1	Q9UHA3	RLP24_HUMAN	ribosomal L24 domain containing 1	54					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	7						TTCCGGAATGCTTTGGTCCAC	0.348																																						ENST00000260443.4																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	7						c.(160-162)Gca>Aca		ribosomal L24 domain containing 1							117.0	111.0	113.0					15																	55484953		2193	4292	6485	SO:0001583	missense	51187				ribosome biogenesis|translation	nucleolus|ribosome	structural constituent of ribosome	g.chr15:55484953C>T	AF201949	CCDS10152.1	15q21	2009-02-27	2009-02-27	2009-02-27	ENSG00000137876	ENSG00000137876			18479	protein-coding gene	gene with protein product		613262	"""chromosome 15 open reading frame 15"""	C15orf15		12808088, 11707418	Standard	NM_016304		Approved	HRP-L30-iso, L30, RPL24L, RPL24	uc002acn.3	Q9UHA3	OTTHUMG00000131957	ENST00000260443.4:c.160G>A	15.37:g.55484953C>T	ENSP00000260443:p.Ala54Thr					RSL24D1_ENST00000565854.1_5'UTR	p.A54T	NM_016304.2	NP_057388.1	Q9UHA3	RLP24_HUMAN			2	336	-			54					B2RD72|Q561V8|Q8N6S8|Q96B04|Q96C76|Q96HJ1	Missense_Mutation	SNP	ENST00000260443.4	37	c.160G>A	CCDS10152.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048259	0.75846	.	.	ENSG00000137876	ENST00000260443	.	.	.	5.13	5.13	0.70059	Ribosomal protein L24e domain (1);	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	M	0.72353	2.195	0.80722	D	1	B	0.31931	0.347	B	0.34824	0.19	T	0.69632	-0.5093	9	0.87932	D	0	-17.7613	16.066	0.80870	0.0:1.0:0.0:0.0	.	54	Q9UHA3	RLP24_HUMAN	T	54	.	ENSP00000260443:A54T	A	-	1	0	RSL24D1	53272245	1.000000	0.71417	0.772000	0.31596	0.915000	0.54546	5.181000	0.65054	2.364000	0.80123	0.563000	0.77884	GCA		0.348	RSL24D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254916.1	NM_016304		23	75	0	0	0	1	0	23	75				
RGS20	8601	broad.mit.edu	37	8	54866827	54866827	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:54866827G>T	ENST00000297313.3	+	5	1027	c.935G>T	c.(934-936)aGg>aTg	p.R312M	RGS20_ENST00000522225.1_Missense_Mutation_p.R46M|RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000344277.6_Missense_Mutation_p.R197M|RGS20_ENST00000276500.4_Missense_Mutation_p.R165M	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	312	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GAGAAAGCAAGGATAATCTAT	0.388																																						ENST00000297313.3																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(934-936)aGg>aTg		regulator of G-protein signaling 20							74.0	73.0	73.0					8																	54866827		2203	4300	6503	SO:0001583	missense	8601				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr8:54866827G>T	AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.935G>T	8.37:g.54866827G>T	ENSP00000297313:p.Arg312Met					RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000522225.1_Missense_Mutation_p.R46M|RGS20_ENST00000276500.4_Missense_Mutation_p.R165M|RGS20_ENST00000344277.6_Missense_Mutation_p.R197M	p.R312M	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)		5	1027	+			312			RGS.		Q96BG9	Missense_Mutation	SNP	ENST00000297313.3	37	c.935G>T	CCDS6155.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208120	0.79240	.	.	ENSG00000147509	ENST00000297313;ENST00000344277;ENST00000522225;ENST00000276500	T;T;T;T	0.02085	4.46;4.46;4.46;4.46	4.8	3.91	0.45181	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.045472	0.85682	D	0.000000	T	0.14184	0.0343	M	0.88241	2.94	0.58432	D	0.999998	P;P;P;P;D	0.76494	0.765;0.912;0.956;0.956;0.999	P;P;D;P;D	0.75484	0.747;0.883;0.912;0.892;0.986	T	0.00331	-1.1811	10	0.87932	D	0	.	12.7575	0.57343	0.0798:0.0:0.9202:0.0	.	76;104;165;197;312	O76081-4;O76081-3;O76081-6;O76081-2;O76081	.;.;.;.;RGS20_HUMAN	M	312;197;46;165	ENSP00000297313:R312M;ENSP00000344630:R197M;ENSP00000430627:R46M;ENSP00000276500:R165M	ENSP00000276500:R165M	R	+	2	0	RGS20	55029380	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.629000	0.74267	2.357000	0.79964	0.655000	0.94253	AGG		0.388	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			17	87	1	0	5.01169e-05	1	5.10218e-05	17	87				
SLITRK5	26050	broad.mit.edu	37	13	88329395	88329395	+	Silent	SNP	C	C	T	rs373098685		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:88329395C>T	ENST00000325089.6	+	2	1971	c.1752C>T	c.(1750-1752)ggC>ggT	p.G584G	SLITRK5_ENST00000400028.3_Silent_p.G343G	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	584	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCAAAGTGGGCGTCCTAGTGG	0.522																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1750-1752)ggC>ggT		SLIT and NTRK-like family, member 5							155.0	140.0	145.0					13																	88329395		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88329395C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1752C>T	13.37:g.88329395C>T						SLITRK5_ENST00000400028.3_Silent_p.G343G	p.G584G	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1971	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		584			LRRCT 2.		B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.1752C>T	CCDS9465.1																																																																																				0.522	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			64	218	0	0	0	1	0	64	218				
NME4	4833	broad.mit.edu	37	16	450236	450236	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:450236G>A	ENST00000219479.2	+	5	472	c.458G>A	c.(457-459)aGc>aAc	p.S153N	DECR2_ENST00000397710.1_5'Flank|DECR2_ENST00000219481.5_5'Flank|NME4_ENST00000450036.1_Missense_Mutation_p.S83N|NME4_ENST00000397722.1_Missense_Mutation_p.S83N|DECR2_ENST00000424398.2_5'Flank|NME4_ENST00000382940.4_Missense_Mutation_p.S161N	NM_005009.2	NP_005000.1	O00746	NDKM_HUMAN	NME/NM23 nucleoside diphosphate kinase 4	153					CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|lung(1)|stomach(1)|urinary_tract(1)	4		Hepatocellular(16;0.00015)				ATCCACGCCAGCGACTCCGTG	0.637																																						ENST00000397722.1																			0				NS(1)|lung(1)|stomach(1)|urinary_tract(1)	4						c.(247-249)aGc>aAc		NME/NM23 nucleoside diphosphate kinase 4							51.0	56.0	54.0					16																	450236		2201	4298	6499	SO:0001583	missense	4833				CTP biosynthetic process|GTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|UTP biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr16:450236G>A	Y07604	CCDS10408.1, CCDS66886.1, CCDS73797.1	16p13.3	2013-04-29	2012-05-18		ENSG00000103202	ENSG00000103202			7852	protein-coding gene	gene with protein product		601818	"""non-metastatic cells 4, protein expressed in"""			9099850, 19852809	Standard	NM_005009		Approved	nm23-H4, NM23H4, NDPKD	uc002cgz.3	O00746	OTTHUMG00000047995	ENST00000219479.2:c.458G>A	16.37:g.450236G>A	ENSP00000219479:p.Ser153Asn					NME4_ENST00000382940.4_Missense_Mutation_p.S161N|NME4_ENST00000219479.2_Missense_Mutation_p.S153N|NME4_ENST00000450036.1_Missense_Mutation_p.S83N	p.S83N			O00746	NDKM_HUMAN			5	722	+		Hepatocellular(16;0.00015)	153					A2IDD0|Q5U0M9	Missense_Mutation	SNP	ENST00000219479.2	37	c.248G>A	CCDS10408.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.698899	0.48307	.	.	ENSG00000103202	ENST00000397722;ENST00000219479;ENST00000382940;ENST00000450036	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	4.67	3.72	0.42706	.	0.404758	0.28203	N	0.016207	D	0.88043	0.6331	H	0.98426	4.23	0.58432	D	0.999999	D	0.64830	0.994	P	0.60949	0.881	D	0.90898	0.4766	10	0.87932	D	0	-8.3713	11.3717	0.49704	0.0884:0.0:0.9116:0.0	.	153	O00746	NDKM_HUMAN	N	83;153;161;83	ENSP00000380834:S83N;ENSP00000219479:S153N;ENSP00000372398:S161N;ENSP00000389048:S83N	ENSP00000219479:S153N	S	+	2	0	NME4	390237	1.000000	0.71417	0.096000	0.21009	0.414000	0.31173	6.744000	0.74854	1.195000	0.43115	0.561000	0.74099	AGC		0.637	NME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109256.2	NM_005009		37	104	0	0	0	1	0	37	104				
CD99	4267	broad.mit.edu	37	X	2644347	2644347	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:2644347C>T	ENST00000381192.3	+	8	590	c.408C>T	c.(406-408)gtC>gtT	p.V136V	CD99_ENST00000482405.2_3'UTR|CD99_ENST00000381187.3_Silent_p.V120V|CD99_ENST00000381184.1_Silent_p.V136V	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	136					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						CTGTCGTGGTCGCCGTGGCTG	0.562																																						ENST00000381192.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						c.(406-408)gtC>gtT		CD99 molecule							87.0	87.0	87.0					X																	2644347		2203	4296	6499	SO:0001819	synonymous_variant	4267				cell adhesion	cytoplasm|integral to plasma membrane		g.chrX:2644347C>T	M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"""Pseudoautosomal regions / PAR1"", ""CD molecules"""	7082	protein-coding gene	gene with protein product		313470, 450000	"""antigen identified by monoclonal antibodies 12E7, F21 and O13"", ""CD99 antigen"""	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.408C>T	X.37:g.2644347C>T						CD99_ENST00000482405.2_3'UTR|CD99_ENST00000381184.1_Silent_p.V136V|CD99_ENST00000381187.3_Silent_p.V120V	p.V136V	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN			8	590	+			136					A6NIW1|O00518|Q6ICV7	Silent	SNP	ENST00000381192.3	37	c.408C>T	CCDS14119.1																																																																																				0.562	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055624.1	NM_001122898		4	78	0	0	0	1	0	4	78				
MROH6	642475	broad.mit.edu	37	8	144654310	144654310	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:144654310A>G	ENST00000398882.3	-	2	596	c.340T>C	c.(340-342)Ttg>Ctg	p.L114L	NAPRT1_ENST00000460623.1_5'Flank|MROH6_ENST00000533679.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	114																	GCCGTGTACAACGCGAGGTCG	0.657																																						ENST00000398882.3																			0											c.(340-342)Ttg>Ctg		maestro heat-like repeat family member 6							36.0	40.0	39.0					8																	144654310		2019	4183	6202	SO:0001819	synonymous_variant	642475							g.chr8:144654310A>G	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.340T>C	8.37:g.144654310A>G							p.L114L	NM_001100878.1	NP_001094348.1					2	596	-								A8MWB1	Silent	SNP	ENST00000398882.3	37	c.340T>C	CCDS47928.1																																																																																				0.657	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		4	113	0	0	0	1	0	4	113				
PIK3CG	5294	broad.mit.edu	37	7	106508556	106508556	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:106508556C>T	ENST00000359195.3	+	2	860	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R184C|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R184C	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	184					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGTGACCCCGCGCATGGCGGA	0.647																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(550-552)Cgc>Tgc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							44.0	50.0	48.0					7																	106508556		2203	4298	6501	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508556C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.550C>T	7.37:g.106508556C>T	ENSP00000352121:p.Arg184Cys					PIK3CG_ENST00000496166.1_Missense_Mutation_p.R184C|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R184C	p.R184C	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	860	+			184					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.550C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868187	0.32977	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70749	-0.51;-0.51;-0.51	5.33	4.43	0.53597	.	0.053329	0.64402	N	0.000001	T	0.68595	0.3018	M	0.70275	2.135	0.80722	D	1	P	0.44946	0.846	B	0.38683	0.279	T	0.70550	-0.4841	10	0.36615	T	0.2	-20.2166	15.4143	0.74952	0.1402:0.8598:0.0:0.0	.	184	P48736	PK3CG_HUMAN	C	184	ENSP00000392258:R184C;ENSP00000419260:R184C;ENSP00000352121:R184C	ENSP00000352121:R184C	R	+	1	0	PIK3CG	106295792	0.998000	0.40836	0.934000	0.37439	0.197000	0.23852	3.748000	0.55142	1.314000	0.45095	0.467000	0.42956	CGC		0.647	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			16	83	0	0	0	1	0	16	83				
TRPM2	7226	broad.mit.edu	37	21	45833830	45833830	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:45833830A>G	ENST00000397928.1	+	20	3464	c.3019A>G	c.(3019-3021)Aag>Gag	p.K1007E	AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000397932.2_Missense_Mutation_p.K1007E|TRPM2_ENST00000300482.5_Missense_Mutation_p.K1007E|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.K987E|AP001065.2_ENST00000423310.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1007					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTACAAGCCTAAGTGCCCCGA	0.612																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(3019-3021)Aag>Gag		transient receptor potential cation channel, subfamily M, member 2							207.0	210.0	209.0					21																	45833830		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45833830A>G	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3019A>G	21.37:g.45833830A>G	ENSP00000381023:p.Lys1007Glu					TRPM2_ENST00000300481.9_Missense_Mutation_p.K987E|TRPM2_ENST00000300482.5_Missense_Mutation_p.K1007E|TRPM2_ENST00000397932.2_Missense_Mutation_p.K1007E|TRPM2_ENST00000498430.1_3'UTR	p.K1007E	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			20	3464	+			1007					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3019A>G	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.939939	0.73557	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	4.93	3.73	0.42828	Ion transport (1);	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	M	0.65677	2.01	0.49687	D	0.999819	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.71434	-0.4594	10	0.31617	T	0.26	-33.7384	11.9122	0.52745	0.8541:0.1459:0.0:0.0	.	1007;793;1007	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	E	1007;1007;987;1007	ENSP00000300482:K1007E;ENSP00000381023:K1007E;ENSP00000300481:K987E;ENSP00000381026:K1007E	ENSP00000300481:K987E	K	+	1	0	TRPM2	44658258	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.609000	0.67661	0.796000	0.33947	0.482000	0.46254	AAG		0.612	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		5	433	0	0	0	1	0	5	433				
BCL3	602	broad.mit.edu	37	19	45260945	45260945	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:45260945A>G	ENST00000164227.5	+	6	1100	c.856A>G	c.(856-858)Aac>Gac	p.N286D		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	286					antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CGCCGTGGAAAACAACAGCCT	0.652			T	IGH@	CLL																																	ENST00000164227.5				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL		0				kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(856-858)Aac>Gac		B-cell CLL/lymphoma 3							63.0	60.0	61.0					19																	45260945		2203	4300	6503	SO:0001583	missense	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45260945A>G	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.856A>G	19.37:g.45260945A>G	ENSP00000164227:p.Asn286Asp						p.N286D	NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN			6	1100	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	286						Missense_Mutation	SNP	ENST00000164227.5	37	c.856A>G	CCDS12642.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.91|19.91	3.914258|3.914258	0.72983|0.72983	.|.	.|.	ENSG00000069399|ENSG00000069399	ENST00000444487|ENST00000403534;ENST00000164227	.|T	.|0.67523	.|-0.27	4.18|4.18	4.18|4.18	0.49190|0.49190	.|Ankyrin repeat-containing domain (3);	.|0.123461	.|0.35772	.|N	.|0.002989	T|T	0.56232|0.56232	0.1971|0.1971	L|L	0.38531|0.38531	1.155|1.155	0.35610|0.35610	D|D	0.808574|0.808574	.|P	.|0.41498	.|0.752	.|B	.|0.41466	.|0.358	T|T	0.65639|0.65639	-0.6119|-0.6119	5|10	.|0.40728	.|T	.|0.16	-2.0084|-2.0084	9.8999|9.8999	0.41342|0.41342	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|286	.|P20749	.|BCL3_HUMAN	R|D	169|246;286	.|ENSP00000164227:N286D	.|ENSP00000164227:N286D	K|N	+|+	2|1	0|0	BCL3|BCL3	49952785|49952785	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	6.692000|6.692000	0.74578|0.74578	1.661000|1.661000	0.50771|0.50771	0.260000|0.260000	0.18958|0.18958	AAA|AAC		0.652	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		11	125	0	0	0	1	0	11	125				
MKL1	57591	broad.mit.edu	37	22	40804998	40804998	+	IGR	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:40804998G>A	ENST00000355630.3	-	0	4496				SGSM3_ENST00000248929.9_Missense_Mutation_p.R655H|SGSM3_ENST00000454798.2_Missense_Mutation_p.R588H	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTGAAGCTCCGCTCACTGATC	0.612			T	RBM15	acute megakaryocytic leukemia																																	ENST00000248929.9				Dom	yes		22	22q13	57591		megakaryoblastic leukemia (translocation) 1			L					0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(1963-1965)cGc>cAc		small G protein signaling modulator 3							31.0	29.0	30.0					22																	40804998		2192	4292	6484	SO:0001628	intergenic_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40804998G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40804998G>A						SGSM3_ENST00000454798.2_Missense_Mutation_p.R588H	p.R655H	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			19	2153	+			655			RUN.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.1964G>A	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115755	0.94339	.	.	ENSG00000100359	ENST00000248929;ENST00000454798;ENST00000427834	T;T;T	0.35048	2.17;1.33;2.17	4.73	4.73	0.59995	RUN (3);	0.000000	0.85682	D	0.000000	T	0.64864	0.2637	M	0.84219	2.685	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.982;1.0;0.977;0.987	T	0.71803	-0.4482	10	0.87932	D	0	.	18.0654	0.89389	0.0:0.0:1.0:0.0	.	566;588;683;655	B4DVE3;B4DMS2;Q96HU1-2;Q96HU1	.;.;.;SGSM3_HUMAN	H	655;588;100	ENSP00000248929:R655H;ENSP00000390998:R588H;ENSP00000407286:R100H	ENSP00000248929:R655H	R	+	2	0	SGSM3	39134944	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.136000	0.77285	2.346000	0.79739	0.313000	0.20887	CGC		0.612	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		4	6	0	0	0	1	0	4	6				
ADCY7	113	broad.mit.edu	37	16	50346906	50346906	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:50346906T>C	ENST00000394697.2	+	22	3050	c.2710T>C	c.(2710-2712)Tgc>Cgc	p.C904R	ADCY7_ENST00000254235.3_Missense_Mutation_p.C904R			P51828	ADCY7_HUMAN	adenylate cyclase 7	904	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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 ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		AGGGCTGGAGTGCCTACGCCT	0.567																																						ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(2710-2712)Tgc>Cgc		adenylate cyclase 7	Bromocriptine(DB01200)						222.0	166.0	185.0					16																	50346906		2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50346906T>C	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2710T>C	16.37:g.50346906T>C	ENSP00000378187:p.Cys904Arg					ADCY7_ENST00000254235.3_Missense_Mutation_p.C904R	p.C904R			P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	22	3050	+		all_cancers(37;0.0127)	904			Guanylate cyclase 2.		A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.2710T>C	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.539872	0.85917	.	.	ENSG00000121281	ENST00000394697;ENST00000254235	D;D	0.81579	-1.51;-1.51	5.39	5.39	0.77823	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.48767	U	0.000167	D	0.91905	0.7437	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93829	0.7126	10	0.87932	D	0	.	15.407	0.74887	0.0:0.0:0.0:1.0	.	904	P51828	ADCY7_HUMAN	R	904	ENSP00000378187:C904R;ENSP00000254235:C904R	ENSP00000254235:C904R	C	+	1	0	ADCY7	48904407	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	8.008000	0.88588	2.038000	0.60285	0.402000	0.26972	TGC		0.567	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			12	61	0	0	0	1	0	12	61				
HOMEZ	57594	broad.mit.edu	37	14	23745593	23745593	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23745593T>C	ENST00000357460.5	-	2	1008	c.844A>G	c.(844-846)Act>Gct	p.T282A	HOMEZ_ENST00000561013.1_Missense_Mutation_p.T284A|HOMEZ_ENST00000431326.2_Missense_Mutation_p.T284A	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GAAGAGGGAGTAACACTAGAT	0.527																																						ENST00000357460.5																			0				endometrium(5)|lung(7)	12						c.(844-846)Act>Gct		homeobox and leucine zipper encoding							71.0	75.0	74.0					14																	23745593		2143	4244	6387	SO:0001583	missense	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23745593T>C	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.844A>G	14.37:g.23745593T>C	ENSP00000350049:p.Thr282Ala					HOMEZ_ENST00000431326.2_Missense_Mutation_p.T284A|HOMEZ_ENST00000561013.1_Missense_Mutation_p.T284A	p.T282A	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	1008	-	all_cancers(95;5.54e-06)		282					A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	c.844A>G	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	T	6.793	0.515401	0.12944	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.24350	1.86;1.87	6.04	0.375	0.16188	.	0.424989	0.25932	N	0.027376	T	0.10766	0.0263	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.24920	0.114;0.07	B;B	0.24394	0.053;0.024	T	0.22695	-1.0209	10	0.08599	T	0.76	-0.0784	2.5991	0.04862	0.1387:0.0793:0.2871:0.4949	.	284;282	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	A	282;284	ENSP00000350049:T282A;ENSP00000406579:T284A	ENSP00000350049:T282A	T	-	1	0	HOMEZ	22815433	0.944000	0.32072	0.962000	0.40283	0.880000	0.50808	0.949000	0.29109	0.513000	0.28278	-0.371000	0.07208	ACT		0.527	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		22	39	0	0	0	1	0	22	39				
DNAH1	25981	broad.mit.edu	37	3	52417474	52417474	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52417474G>A	ENST00000420323.2	+	51	8275	c.8014G>A	c.(8014-8016)Gcg>Acg	p.A2672T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2672	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCTGTATACTGCGGACGAGCA	0.557																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(8014-8016)Gcg>Acg		dynein, axonemal, heavy chain 1							83.0	82.0	82.0					3																	52417474		2019	4178	6197	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52417474G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8014G>A	3.37:g.52417474G>A	ENSP00000401514:p.Ala2672Thr						p.A2672T	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	51	8275	+			2672			AAA 4 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.8014G>A	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	5.352	0.250262	0.10130	.	.	ENSG00000114841	ENST00000420323	T	0.42131	0.98	4.87	-9.74	0.00509	.	3.650830	0.00976	N	0.003318	T	0.19886	0.0478	N	0.13198	0.31	0.09310	N	1	B	0.10296	0.003	B	0.16722	0.016	T	0.10823	-1.0613	10	0.14252	T	0.57	.	5.6609	0.17668	0.2331:0.2975:0.4004:0.069	.	2672	C9JXH6	.	T	2672	ENSP00000401514:A2672T	ENSP00000401514:A2672T	A	+	1	0	DNAH1	52392514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.794000	0.04584	-2.477000	0.00525	-0.136000	0.14681	GCG		0.557	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		14	41	0	0	0	1	0	14	41				
EBF2	64641	broad.mit.edu	37	8	25718726	25718726	+	Missense_Mutation	SNP	C	C	T	rs369154726		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:25718726C>T	ENST00000520164.1	-	13	1718	c.1181G>A	c.(1180-1182)cGa>cAa	p.R394Q	EBF2_ENST00000535548.1_Missense_Mutation_p.R125Q|EBF2_ENST00000408929.3_Missense_Mutation_p.R246Q	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	394					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GTCTGCGGCTCGCTTCAAAAT	0.488																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1180-1182)cGa>cAa		early B-cell factor 2		C	GLN/ARG	0,3994		0,0,1997	115.0	121.0	119.0		1181	5.5	1.0	8		119	1,8343		0,1,4171	no	missense	EBF2	NM_022659.2	43	0,1,6168	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	394/576	25718726	1,12337	1997	4172	6169	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25718726C>T	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1181G>A	8.37:g.25718726C>T	ENSP00000430241:p.Arg394Gln					EBF2_ENST00000408929.3_Missense_Mutation_p.R246Q|EBF2_ENST00000535548.1_Missense_Mutation_p.R125Q	p.R394Q	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	13	1718	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	394					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.1181G>A	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	C	33	5.229375	0.95173	0.0	1.2E-4	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.44881	0.91;0.91;0.91	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.69233	0.3088	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.72503	-0.4273	10	0.59425	D	0.04	-1.3669	19.3942	0.94598	0.0:1.0:0.0:0.0	.	394	Q9HAK2	COE2_HUMAN	Q	394;246;125	ENSP00000430241:R394Q;ENSP00000386178:R246Q;ENSP00000437909:R125Q	ENSP00000386178:R246Q	R	-	2	0	EBF2	25774643	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.587000	0.87381	0.655000	0.94253	CGA		0.488	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		65	100	0	0	0	1	0	65	100				
PTPN3	5774	broad.mit.edu	37	9	112189315	112189315	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:112189315T>C	ENST00000374541.2	-	12	1020	c.916A>G	c.(916-918)Acg>Gcg	p.T306A	PTPN3_ENST00000412145.1_Missense_Mutation_p.T175A|PTPN3_ENST00000262539.3_Missense_Mutation_p.T197A|PTPN3_ENST00000446349.1_Missense_Mutation_p.T175A	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	306	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGAAAGAACGTATGGTGCTCA	0.443																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(523-525)Acg>Gcg		protein tyrosine phosphatase, non-receptor type 3							159.0	140.0	147.0					9																	112189315		2203	4300	6503	SO:0001583	missense	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112189315T>C		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.916A>G	9.37:g.112189315T>C	ENSP00000363667:p.Thr306Ala					PTPN3_ENST00000374541.2_Missense_Mutation_p.T306A|PTPN3_ENST00000446349.1_Missense_Mutation_p.T175A|PTPN3_ENST00000262539.3_Missense_Mutation_p.T197A	p.T175A	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			7	3076	-			306			FERM.		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.523A>G	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.010036	0.54361	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	5.76	3.15	0.36227	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.155857	0.56097	D	0.000033	D	0.83727	0.5317	L	0.31578	0.945	0.80722	D	1	B;B;P	0.35894	0.37;0.008;0.526	B;B;P	0.45639	0.135;0.023;0.488	T	0.79490	-0.1782	10	0.46703	T	0.11	.	10.8017	0.46493	0.3053:0.0:0.0:0.6946	.	197;306;306	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	A	306;175;175;306;197	ENSP00000416654:T175A;ENSP00000395384:T175A;ENSP00000363667:T306A;ENSP00000262539:T197A	ENSP00000262539:T197A	T	-	1	0	PTPN3	111229136	1.000000	0.71417	0.432000	0.26747	0.953000	0.61014	2.915000	0.48805	0.297000	0.22615	0.533000	0.62120	ACG		0.443	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			33	76	0	0	0	1	0	33	76				
PUM1	9698	broad.mit.edu	37	1	31437751	31437751	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:31437751T>C	ENST00000257075.5	-	14	2186	c.2093A>G	c.(2092-2094)aAc>aGc	p.N698S	PUM1_ENST00000440538.2_Missense_Mutation_p.N672S|PUM1_ENST00000373741.4_Missense_Mutation_p.N734S|PUM1_ENST00000373747.3_Missense_Mutation_p.N699S|PUM1_ENST00000424085.2_Missense_Mutation_p.N456S|PUM1_ENST00000426105.2_Missense_Mutation_p.N698S|PUM1_ENST00000373742.2_Missense_Mutation_p.N639S|PUM1_ENST00000490546.1_5'Flank|PUM1_ENST00000423018.2_Missense_Mutation_p.N554S	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	698	Ser-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AGTGTTGGAGTTTGCAACTAA	0.483																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2095-2097)aAc>aGc		pumilio RNA-binding family member 1							45.0	50.0	48.0					1																	31437751		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31437751T>C	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2093A>G	1.37:g.31437751T>C	ENSP00000257075:p.Asn698Ser					PUM1_ENST00000440538.2_Missense_Mutation_p.N672S|PUM1_ENST00000257075.5_Missense_Mutation_p.N698S|PUM1_ENST00000426105.2_Missense_Mutation_p.N698S|PUM1_ENST00000424085.2_Missense_Mutation_p.N456S|PUM1_ENST00000423018.2_Missense_Mutation_p.N554S|PUM1_ENST00000373741.4_Missense_Mutation_p.N734S|PUM1_ENST00000373742.2_Missense_Mutation_p.N639S	p.N699S	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	14	2195	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	698			Ser-rich.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.2096A>G	CCDS338.1	.	.	.	.	.	.	.	.	.	.	T	9.421	1.082987	0.20309	.	.	ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742	T;T;T;T;T;T;T;T	0.16073	2.37;2.39;2.64;2.64;2.65;2.63;2.66;2.38	5.54	5.54	0.83059	.	0.082223	0.85682	D	0.000000	T	0.25865	0.0630	N	0.24115	0.695	0.58432	D	0.999999	B;B;B;D;B;B;B	0.56035	0.015;0.055;0.015;0.974;0.005;0.003;0.016	B;B;B;D;B;B;B	0.67725	0.014;0.012;0.014;0.953;0.008;0.016;0.028	T	0.05517	-1.0880	10	0.18276	T	0.48	-9.3953	15.6674	0.77242	0.0:0.0:0.0:1.0	.	639;554;734;672;698;698;698	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q53HH5	.;.;.;.;PUM1_HUMAN;.;.	S	456;698;699;436;698;672;734;554;639	ENSP00000400141:N456S;ENSP00000257075:N698S;ENSP00000362852:N699S;ENSP00000391723:N698S;ENSP00000401777:N672S;ENSP00000362846:N734S;ENSP00000399440:N554S;ENSP00000362847:N639S	ENSP00000257075:N698S	N	-	2	0	PUM1	31210338	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.260000	0.58835	2.116000	0.64780	0.533000	0.62120	AAC		0.483	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			14	63	0	0	0	1	0	14	63				
FGD6	55785	broad.mit.edu	37	12	95486519	95486519	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:95486519A>G	ENST00000343958.4	-	16	3926	c.3703T>C	c.(3703-3705)Ttc>Ctc	p.F1235L	FGD6_ENST00000546711.1_Missense_Mutation_p.F1235L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1235					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)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GTGAGAGTGAATTCGCTTGTG	0.488																																						ENST00000343958.4																			0				breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3703-3705)Ttc>Ctc		FYVE, RhoGEF and PH domain containing 6							128.0	111.0	117.0					12																	95486519		2203	4300	6503	SO:0001583	missense	55785				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.chr12:95486519A>G	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.3703T>C	12.37:g.95486519A>G	ENSP00000344446:p.Phe1235Leu					FGD6_ENST00000546711.1_Missense_Mutation_p.F1235L	p.F1235L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN			16	3926	-			1235					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.3703T>C	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	A	35	5.566637	0.96540	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000551521	D;D;D	0.84800	-1.9;-1.9;-1.9	5.66	5.66	0.87406	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);	0.000000	0.49916	D	0.000125	D	0.95487	0.8534	H	0.97852	4.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.97216	0.9874	10	0.87932	D	0	-22.5971	16.1942	0.82015	1.0:0.0:0.0:0.0	.	1235;1235	Q6ZV73-2;Q6ZV73	.;FGD6_HUMAN	L	1235;1235;231	ENSP00000344446:F1235L;ENSP00000450342:F1235L;ENSP00000450240:F231L	ENSP00000344446:F1235L	F	-	1	0	FGD6	94010650	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.877000	0.92386	2.286000	0.76751	0.454000	0.30748	TTC		0.488	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		12	50	0	0	0	1	0	12	50				
SYVN1	84447	broad.mit.edu	37	11	64897199	64897199	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:64897199A>G	ENST00000377190.3	-	14	1690		c.e14+1		SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000294256.8_Splice_Site|SYVN1_ENST00000307289.6_Splice_Site|SYVN1_ENST00000526060.1_Splice_Site	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GTACAGACACACCCCAAGGAG	0.607																																						ENST00000526060.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.e14+1		synovial apoptosis inhibitor 1, synoviolin							56.0	60.0	59.0					11																	64897199		2201	4297	6498	SO:0001630	splice_region_variant	84447				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr11:64897199A>G	AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1595+1T>C	11.37:g.64897199A>G						SYVN1_ENST00000307289.6_Splice_Site|SYVN1_ENST00000377190.3_Splice_Site|SYVN1_ENST00000294256.8_Splice_Site				Q86TM6	SYVN1_HUMAN			14	1785	-								Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Splice_Site	SNP	ENST00000377190.3	37		CCDS31605.1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.604009	0.46423	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000434219;ENST00000307289;ENST00000526060	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5476	0.56208	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYVN1	64653775	1.000000	0.71417	0.923000	0.36655	0.839000	0.47603	5.877000	0.69675	2.082000	0.62665	0.459000	0.35465	.		0.607	SYVN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385274.1	NM_032431	Intron	18	63	0	0	0	1	0	18	63				
ZNF442	79973	broad.mit.edu	37	19	12460905	12460905	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:12460905A>G	ENST00000242804.4	-	6	2076	c.1494T>C	c.(1492-1494)agT>agC	p.S498S	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Silent_p.S429S	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						ATGTGAAACAACTGAATGCTT	0.363																																						ENST00000242804.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1492-1494)agT>agC		zinc finger protein 442							109.0	111.0	110.0					19																	12460905		2203	4300	6503	SO:0001819	synonymous_variant	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12460905A>G	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1494T>C	19.37:g.12460905A>G						ZNF442_ENST00000438182.1_Silent_p.S429S	p.S498S	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN			6	2076	-			498					B4DJ48	Silent	SNP	ENST00000242804.4	37	c.1494T>C	CCDS12271.1																																																																																				0.363	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		9	102	0	0	0	1	0	9	102				
CCRL2	9034	broad.mit.edu	37	3	46449604	46449604	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:46449604T>A	ENST00000399036.3	+	2	386	c.34T>A	c.(34-36)Tat>Aat	p.Y12N	RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000357392.4_Missense_Mutation_p.Y24N|CCRL2_ENST00000400880.3_Missense_Mutation_p.Y12N|CCRL2_ENST00000400882.2_Missense_Mutation_p.Y12N	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	12					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		AGAGGATGAATATGATGTCCT	0.532																																						ENST00000399036.3																			0											c.(34-36)Tat>Aat									58.0	57.0	57.0					3																	46449604		2099	4217	6316	SO:0001583	missense	9034							g.chr3:46449604T>A	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.34T>A	3.37:g.46449604T>A	ENSP00000381994:p.Tyr12Asn					ACKR5_ENST00000400882.2_Missense_Mutation_p.Y12N|ACKR5_ENST00000400880.3_Missense_Mutation_p.Y12N|ACKR5_ENST00000357392.4_Missense_Mutation_p.Y24N	p.Y12N	NM_003965.4	NP_003956.2					2	386	+								B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	ENST00000399036.3	37	c.34T>A	CCDS43079.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132334	0.56828	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000433848;ENST00000400882	T;T;T;T;T	0.60040	0.24;0.22;0.24;1.58;0.24	5.48	5.48	0.80851	.	0.330632	0.25668	N	0.029092	T	0.70587	0.3241	L	0.60455	1.87	0.38621	D	0.951137	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72640	-0.4232	10	0.41790	T	0.15	.	11.9609	0.53007	0.0:0.0:0.0:1.0	.	24;12	O00421-2;O00421	.;CCRL2_HUMAN	N	12;24;12;12;12	ENSP00000381994:Y12N;ENSP00000349967:Y24N;ENSP00000383677:Y12N;ENSP00000414957:Y12N;ENSP00000383678:Y12N	ENSP00000349967:Y24N	Y	+	1	0	CCRL2	46424608	0.979000	0.34478	0.109000	0.21407	0.202000	0.24057	3.247000	0.51422	2.061000	0.61500	0.533000	0.62120	TAT		0.532	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2			4	11	0	0	0	1	0	4	11				
VGLL1	51442	broad.mit.edu	37	X	135618205	135618205	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:135618205T>A	ENST00000370634.3	+	2	196	c.26T>A	c.(25-27)aTc>aAc	p.I9N		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					AAGACTGCCATCCGGCTGCCC	0.488																																						ENST00000370634.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(25-27)aTc>aAc		vestigial like 1 (Drosophila)							77.0	76.0	76.0					X																	135618205		2203	4300	6503	SO:0001583	missense	51442				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	g.chrX:135618205T>A	AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.26T>A	X.37:g.135618205T>A	ENSP00000359668:p.Ile9Asn						p.I9N	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN			2	196	+	Acute lymphoblastic leukemia(192;0.000127)		9					Q5H915	Missense_Mutation	SNP	ENST00000370634.3	37	c.26T>A	CCDS14658.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336550	0.24253	.	.	ENSG00000102243	ENST00000370634;ENST00000430688	T	0.47869	0.83	4.36	1.81	0.25067	.	2.017260	0.01856	N	0.036261	T	0.41119	0.1145	L	0.36672	1.1	0.09310	N	1	B	0.29432	0.244	B	0.26969	0.075	T	0.31392	-0.9945	10	0.62326	D	0.03	0.4324	7.4505	0.27235	0.0:0.4272:0.0:0.5728	.	9	Q99990	VGLL1_HUMAN	N	9;6	ENSP00000359668:I9N	ENSP00000359668:I9N	I	+	2	0	VGLL1	135445871	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.189000	0.17037	-0.021000	0.14009	0.486000	0.48141	ATC		0.488	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267		7	63	0	0	0	1	0	7	63				
SEMA3C	10512	broad.mit.edu	37	7	80546021	80546021	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:80546021T>C	ENST00000265361.3	-	2	638	c.77A>G	c.(76-78)cAa>cGa	p.Q26R	SEMA3C_ENST00000419255.2_Missense_Mutation_p.Q26R|SEMA3C_ENST00000536800.1_5'UTR|SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000544525.1_Missense_Mutation_p.Q44R	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	26					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AACTCTTGCTTGGGGCTGGGA	0.343																																						ENST00000265361.3																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(76-78)cAa>cGa		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C							102.0	96.0	98.0					7																	80546021		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80546021T>C	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.77A>G	7.37:g.80546021T>C	ENSP00000265361:p.Gln26Arg					SEMA3C_ENST00000419255.2_Missense_Mutation_p.Q26R|SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000544525.1_Missense_Mutation_p.Q44R|SEMA3C_ENST00000536800.1_5'UTR	p.Q26R	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN			2	638	-			26					B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.77A>G	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	T	9.736	1.163493	0.21538	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.25414	1.8;1.8;1.8	5.39	2.84	0.33178	.	0.471361	0.21120	N	0.079824	T	0.10809	0.0264	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.11867	-1.0570	10	0.25106	T	0.35	.	5.6078	0.17389	0.1501:0.0814:0.0:0.7685	.	44;26	F5H1Z7;Q99985	.;SEM3C_HUMAN	R	26;26;44	ENSP00000265361:Q26R;ENSP00000411193:Q26R;ENSP00000445649:Q44R	ENSP00000265361:Q26R	Q	-	2	0	SEMA3C	80383957	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.823000	0.39062	0.977000	0.38444	0.528000	0.53228	CAA		0.343	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		27	61	0	0	0	1	0	27	61				
HSP90AB2P	391634	broad.mit.edu	37	4	13338636	13338636	+	RNA	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:13338636A>G	ENST00000602906.1	+	0	448							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			kidney(3)|lung(1)	4						TGGTAGGGGTACCAAAGTGAT	0.478																																						ENST00000602906.1																			0				kidney(3)|lung(1)	4																																														391634							g.chr4:13338636A>G	AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8			4.37:g.13338636A>G														0	448	+									RNA	SNP	ENST00000602906.1	37																																																																																						0.478	HSP90AB2P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359156.2			23	68	0	0	0	1	0	23	68				
TYW1B	441250	broad.mit.edu	37	7	72209691	72209691	+	RNA	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:72209691A>G	ENST00000435769.2	-	0	1087				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GAATACTCCTACTAGTATCTG	0.368																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)																																						441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72209691A>G	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72209691A>G										Q6NUM6	TYW1B_HUMAN			0	577	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.368	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		6	5	0	0	0	1	0	6	5				
UTP6	55813	broad.mit.edu	37	17	30213066	30213066	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:30213066A>G	ENST00000261708.4	-	9	773	c.636T>C	c.(634-636)taT>taC	p.Y212Y	CTC-542B22.2_ENST00000583236.1_lincRNA|UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	212					rRNA processing (GO:0006364)	nucleolus (GO:0005730)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TTTCTTCAGAATAATCAGGAT	0.348																																						ENST00000261708.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21						c.(634-636)taT>taC		UTP6, small subunit (SSU) processome component, homolog (yeast)							95.0	98.0	97.0					17																	30213066		2203	4300	6503	SO:0001819	synonymous_variant	55813				rRNA processing	nucleolus	binding	g.chr17:30213066A>G	AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated antigen 66"""		"""chromosome 17 open reading frame 40"""	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.636T>C	17.37:g.30213066A>G						CTC-542B22.2_ENST00000583236.1_lincRNA|UTP6_ENST00000490218.2_5'UTR	p.Y212Y	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN			9	773	-		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)	212					Q8IX96|Q96BL2|Q9NQ91	Silent	SNP	ENST00000261708.4	37	c.636T>C	CCDS11269.1																																																																																				0.348	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428		20	55	0	0	0	1	0	20	55				
ITGAV	3685	broad.mit.edu	37	2	187540341	187540341	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:187540341T>C	ENST00000261023.3	+	27	2991	c.2717T>C	c.(2716-2718)gTt>gCt	p.V906A	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.V860A|ITGAV_ENST00000374907.3_Missense_Mutation_p.V870A	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	906					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GGTTGTGGAGTTGCTCAGTGC	0.368																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(2716-2718)gTt>gCt		integrin, alpha V							105.0	98.0	101.0					2																	187540341		2203	4300	6503	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187540341T>C		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2717T>C	2.37:g.187540341T>C	ENSP00000261023:p.Val906Ala					ITGAV_ENST00000374907.3_Missense_Mutation_p.V870A|ITGAV_ENST00000433736.2_Missense_Mutation_p.V860A|AC017101.10_ENST00000453665.1_RNA	p.V906A	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	27	2991	+			906					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.2717T>C	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	T	6.707	0.499154	0.12762	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.43294	0.95;0.95;0.95	5.28	-0.366	0.12545	Integrin alpha-2 (1);	0.614179	0.16911	N	0.194484	T	0.15998	0.0385	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.17852	0.024;0.003;0.024	B;B;B	0.24269	0.032;0.004;0.052	T	0.27088	-1.0084	10	0.17832	T	0.49	.	5.8327	0.18588	0.2355:0.4543:0.0:0.3102	.	860;870;906	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	A	906;870;860	ENSP00000261023:V906A;ENSP00000364042:V870A;ENSP00000404291:V860A	ENSP00000261023:V906A	V	+	2	0	ITGAV	187248586	0.011000	0.17503	0.337000	0.25536	0.876000	0.50452	-0.082000	0.11304	0.046000	0.15833	0.460000	0.39030	GTT		0.368	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		27	92	0	0	0	1	0	27	92				
GMIP	51291	broad.mit.edu	37	19	19744652	19744652	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:19744652T>C	ENST00000203556.4	-	19	2569	c.2432A>G	c.(2431-2433)cAc>cGc	p.H811R	GMIP_ENST00000445806.2_Missense_Mutation_p.H782R|GMIP_ENST00000587238.1_Missense_Mutation_p.H785R|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	811	Pro-rich.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAGGGTACTGtggtgctgggg	0.637																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(2431-2433)cAc>cGc		GEM interacting protein							17.0	20.0	19.0					19																	19744652		2138	4166	6304	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19744652T>C	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.2432A>G	19.37:g.19744652T>C	ENSP00000203556:p.His811Arg					GMIP_ENST00000445806.2_Missense_Mutation_p.H782R|GMIP_ENST00000587238.1_Missense_Mutation_p.H785R	p.H811R	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			19	2569	-			811			Pro-rich.		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.2432A>G	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	T	4.999	0.185466	0.09495	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.20332	2.08;2.08	3.87	0.424	0.16468	.	1.068710	0.07382	N	0.887645	T	0.11922	0.0290	N	0.24115	0.695	0.09310	N	1	B;B;B	0.15719	0.014;0.006;0.006	B;B;B	0.14023	0.01;0.01;0.01	T	0.39354	-0.9618	10	0.15066	T	0.55	-3.6666	4.5418	0.12061	0.2062:0.0:0.364:0.4298	.	782;785;811	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	R	811;782	ENSP00000203556:H811R;ENSP00000397075:H782R	ENSP00000203556:H811R	H	-	2	0	GMIP	19605652	0.002000	0.14202	0.001000	0.08648	0.041000	0.13682	0.131000	0.15870	-0.012000	0.14223	0.533000	0.62120	CAC		0.637	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		12	28	0	0	0	1	0	12	28				
ZNFX1	57169	broad.mit.edu	37	20	47881256	47881256	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:47881256C>G	ENST00000396105.1	-	5	2394	c.2148G>C	c.(2146-2148)atG>atC	p.M716I	ZNFX1_ENST00000371754.4_Missense_Mutation_p.M716I|ZNFX1_ENST00000371752.1_Missense_Mutation_p.M716I	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	716							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GACTTACACTCATGTAGGCCC	0.537																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(2146-2148)atG>atC		zinc finger, NFX1-type containing 1							148.0	141.0	144.0					20																	47881256		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47881256C>G	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2148G>C	20.37:g.47881256C>G	ENSP00000379412:p.Met716Ile					ZNFX1_ENST00000371754.4_Missense_Mutation_p.M716I|ZNFX1_ENST00000371752.1_Missense_Mutation_p.M716I	p.M716I	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		5	2394	-			716					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.2148G>C	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948521	0.34377	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;T;T;T;T	0.83992	-1.79;-1.49;-1.49;2.04;2.04	5.83	5.83	0.93111	.	0.349322	0.38058	N	0.001827	T	0.73148	0.3550	L	0.33485	1.01	0.28138	N	0.929901	B	0.34200	0.441	B	0.31016	0.123	T	0.65125	-0.6244	10	0.21014	T	0.42	-29.1542	13.6403	0.62246	0.1547:0.8452:0.0:0.0	.	716	Q9P2E3	ZNFX1_HUMAN	I	716;716;716;716;716;520	ENSP00000360819:M716I;ENSP00000360817:M716I;ENSP00000379412:M716I;ENSP00000360809:M716I;ENSP00000413800:M520I	ENSP00000360809:M716I	M	-	3	0	ZNFX1	47314663	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.469000	0.45110	2.770000	0.95276	0.655000	0.94253	ATG		0.537	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		58	171	0	0	0	1	0	58	171				
USP42	84132	broad.mit.edu	37	7	6182587	6182587	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:6182587T>C	ENST00000306177.5	+	8	978	c.820T>C	c.(820-822)Ttg>Ctg	p.L274L		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	274	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAACAAGGCATTGGAGCAGTT	0.532																																						ENST00000306177.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(820-822)Ttg>Ctg		ubiquitin specific peptidase 42							156.0	166.0	162.0					7																	6182587		2133	4251	6384	SO:0001819	synonymous_variant	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6182587T>C	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.820T>C	7.37:g.6182587T>C							p.L274L	NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	8	978	+		Ovarian(82;0.0423)	274					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	37	c.820T>C	CCDS47535.1																																																																																				0.532	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		23	68	0	0	0	1	0	23	68				
ENTPD4	9583	broad.mit.edu	37	8	23292926	23292926	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:23292926T>C	ENST00000358689.4	-	11	1674	c.1439A>G	c.(1438-1440)cAt>cGt	p.H480R	ENTPD4_ENST00000356206.6_Missense_Mutation_p.H472R|ENTPD4_ENST00000521321.1_5'UTR|ENTPD4_ENST00000417069.2_Missense_Mutation_p.H472R	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	480					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GAGGTCAGCATGAGAGGCGTA	0.473																																						ENST00000358689.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1438-1440)cAt>cGt		ectonucleoside triphosphate diphosphohydrolase 4							112.0	94.0	100.0					8																	23292926		2203	4300	6503	SO:0001583	missense	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23292926T>C	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1439A>G	8.37:g.23292926T>C	ENSP00000351520:p.His480Arg					ENTPD4_ENST00000521321.1_5'UTR|ENTPD4_ENST00000356206.6_Missense_Mutation_p.H472R|ENTPD4_ENST00000417069.2_Missense_Mutation_p.H472R	p.H480R	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	11	1674	-		Prostate(55;0.114)	480					D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	c.1439A>G	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.449627	0.84101	.	.	ENSG00000197217	ENST00000518471;ENST00000356206;ENST00000358689;ENST00000417069	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	L	0.49350	1.555	0.80722	D	1	P;D;D	0.55800	0.863;0.973;0.963	P;P;P	0.58130	0.624;0.804;0.833	T	0.04017	-1.0984	10	0.07175	T	0.84	-24.4154	14.8939	0.70630	0.0:0.0:0.0:1.0	.	472;472;480	Q8NE73;Q9Y227-2;Q9Y227	.;.;ENTP4_HUMAN	R	75;472;480;472	ENSP00000430579:H75R;ENSP00000348536:H472R;ENSP00000351520:H480R;ENSP00000408573:H472R	ENSP00000348536:H472R	H	-	2	0	ENTPD4	23348871	1.000000	0.71417	0.965000	0.40720	0.994000	0.84299	8.018000	0.88722	2.200000	0.70718	0.459000	0.35465	CAT		0.473	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		4	70	0	0	0	1	0	4	70				
FER1L6	654463	broad.mit.edu	37	8	125047642	125047642	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:125047642T>C	ENST00000522917.1	+	19	2617	c.2411T>C	c.(2410-2412)aTg>aCg	p.M804T	FER1L6_ENST00000399018.1_Missense_Mutation_p.M804T|RP11-959I15.4_ENST00000522005.1_RNA|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	804						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAAGCAGAAATGTCCTCCAAA	0.552																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2410-2412)aTg>aCg		fer-1-like 6 (C. elegans)							73.0	71.0	71.0					8																	125047642		1950	4153	6103	SO:0001583	missense	654463					integral to membrane		g.chr8:125047642T>C	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2411T>C	8.37:g.125047642T>C	ENSP00000428280:p.Met804Thr					FER1L6_ENST00000399018.1_Missense_Mutation_p.M804T|FER1L6-AS1_ENST00000518567.1_RNA	p.M804T	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		19	2617	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		804						Missense_Mutation	SNP	ENST00000522917.1	37	c.2411T>C	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.779100	0.00634	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.80393	-1.37;-1.37	4.78	0.234	0.15390	.	1.161710	0.06271	N	0.695673	T	0.72558	0.3475	L	0.57536	1.79	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48980	-0.8986	10	0.11182	T	0.66	.	5.4603	0.16614	0.1235:0.2535:0.0:0.623	.	804	Q2WGJ9	FR1L6_HUMAN	T	804	ENSP00000428280:M804T;ENSP00000381982:M804T	ENSP00000381982:M804T	M	+	2	0	FER1L6	125116823	0.000000	0.05858	0.333000	0.25482	0.049000	0.14656	-1.213000	0.02991	-0.076000	0.12775	-1.450000	0.01041	ATG		0.552	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		8	100	0	0	0	1	0	8	100				
PRDM2	7799	broad.mit.edu	37	1	14107943	14107943	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:14107943T>C	ENST00000235372.7	+	8	4509	c.3653T>C	c.(3652-3654)gTg>gCg	p.V1218A	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.V1017A|PRDM2_ENST00000343137.4_Missense_Mutation_p.V1017A|PRDM2_ENST00000311066.5_Missense_Mutation_p.V1218A|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCAGATAAGGTGTGCACACAT	0.463																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(3652-3654)gTg>gCg		PR domain containing 2, with ZNF domain							93.0	96.0	95.0					1																	14107943		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14107943T>C	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3653T>C	1.37:g.14107943T>C	ENSP00000235372:p.Val1218Ala					PRDM2_ENST00000311066.5_Missense_Mutation_p.V1218A|PRDM2_ENST00000343137.4_Missense_Mutation_p.V1017A|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.V1017A	p.V1218A	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	4509	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1218					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.3653T>C	CCDS150.1	.	.	.	.	.	.	.	.	.	.	T	1.549	-0.539619	0.04053	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01527	4.92;4.8;4.81;4.81	6.08	4.92	0.64577	.	0.457221	0.25256	N	0.031995	T	0.01189	0.0039	N	0.12182	0.205	0.27885	N	0.939533	B;B;B	0.30605	0.055;0.189;0.287	B;B;B	0.27380	0.012;0.036;0.079	T	0.49688	-0.8913	10	0.13108	T	0.6	.	10.1169	0.42596	0.2308:0.0:0.0:0.7692	.	1076;1218;1218	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	A	1218;1218;1218;1017;1017	ENSP00000235372:V1218A;ENSP00000312352:V1218A;ENSP00000411103:V1017A;ENSP00000341621:V1017A	ENSP00000235372:V1218A	V	+	2	0	PRDM2	13980530	0.925000	0.31364	0.744000	0.31058	0.889000	0.51656	1.706000	0.37878	2.333000	0.79357	0.533000	0.62120	GTG		0.463	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		38	136	0	0	0	1	0	38	136				
ADORA2B	136	broad.mit.edu	37	17	15878301	15878301	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:15878301G>A	ENST00000304222.2	+	2	976	c.644G>A	c.(643-645)cGc>cAc	p.R215H	ZSWIM7_ENST00000399280.2_5'Flank	NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	215					activation of adenylate cyclase activity (GO:0007190)|activation of MAPK activity (GO:0000187)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)|JNK cascade (GO:0007254)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to non-antigenic stimulus (GO:0002882)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation vascular endothelial growth factor production (GO:0010575)|relaxation of vascular smooth muscle (GO:0060087)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Adenosine(DB00640)|Defibrotide(DB04932)|Enprofylline(DB00824)|Theophylline(DB00277)	CAGCTTCAGCGCACTGAGCTG	0.517																																						ENST00000304222.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9						c.(643-645)cGc>cAc		adenosine A2b receptor	Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277)						120.0	95.0	103.0					17																	15878301		2203	4300	6503	SO:0001583	missense	136				activation of MAPK activity|cellular defense response|excretion|JNK cascade	integral to plasma membrane		g.chr17:15878301G>A	M97759	CCDS11173.1	17p12	2012-08-08			ENSG00000170425	ENSG00000170425		"""GPCR / Class A : Adenosine receptors"""	264	protein-coding gene	gene with protein product		600446				7558011	Standard	NM_000676		Approved		uc002gpd.1	P29275	OTTHUMG00000059140	ENST00000304222.2:c.644G>A	17.37:g.15878301G>A	ENSP00000304501:p.Arg215His						p.R215H	NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	2	976	+			215						Missense_Mutation	SNP	ENST00000304222.2	37	c.644G>A	CCDS11173.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356705	0.41801	.	.	ENSG00000170425	ENST00000304222	T	0.73047	-0.71	5.79	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.486738	0.23714	N	0.045293	T	0.60209	0.2251	L	0.42487	1.325	0.45087	D	0.998101	B	0.14012	0.009	B	0.13407	0.009	T	0.56980	-0.7889	10	0.66056	D	0.02	-8.774	7.6146	0.28150	0.3279:0.0:0.6721:0.0	.	215	P29275	AA2BR_HUMAN	H	215	ENSP00000304501:R215H	ENSP00000304501:R215H	R	+	2	0	ADORA2B	15819026	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	3.728000	0.54991	0.768000	0.33290	0.563000	0.77884	CGC		0.517	ADORA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131032.1			27	60	0	0	0	1	0	27	60				
PI16	221476	broad.mit.edu	37	6	36922666	36922666	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:36922666C>T	ENST00000373674.3	+	1	458	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	44	SCP.				negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAACCTCTACCGGGCCCAGGT	0.627																																						ENST00000373674.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(130-132)Cgg>Tgg		peptidase inhibitor 16							54.0	53.0	53.0					6																	36922666		2203	4300	6503	SO:0001583	missense	221476					extracellular region|integral to membrane	peptidase inhibitor activity	g.chr6:36922666C>T		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.130C>T	6.37:g.36922666C>T	ENSP00000362778:p.Arg44Trp						p.R44W	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN			1	458	+			44					Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	c.130C>T	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165573	0.78339	.	.	ENSG00000164530	ENST00000536757;ENST00000373674	T	0.57907	0.37	5.51	5.51	0.81932	CAP domain (3);	0.000000	0.64402	D	0.000001	D	0.82549	0.5061	H	0.98612	4.28	0.52501	D	0.999959	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89310	0.3632	10	0.87932	D	0	.	19.0021	0.92838	0.0:1.0:0.0:0.0	.	44;44	Q6UXB8;Q6UXB8-2	PI16_HUMAN;.	W	44	ENSP00000362778:R44W	ENSP00000362778:R44W	R	+	1	2	PI16	37030644	1.000000	0.71417	0.996000	0.52242	0.636000	0.38137	5.217000	0.65252	2.593000	0.87608	0.491000	0.48974	CGG		0.627	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		20	38	0	0	0	1	0	20	38				
CHFR	55743	broad.mit.edu	37	12	133448979	133448979	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:133448979T>C	ENST00000432561.2	-	4	308	c.235A>G	c.(235-237)Acc>Gcc	p.T79A	CHFR_ENST00000450056.2_Splice_Site_p.T79A|CHFR_ENST00000266880.7_Splice_Site_p.T79A|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000443047.2_Splice_Site_p.T79A|CHFR_ENST00000315585.7_Splice_Site_p.T79A			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	79	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GTTCCACTGGTGCTGTAAAAA	0.378																																						ENST00000266880.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.e4-1		checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase							117.0	96.0	103.0					12																	133448979		2203	4300	6503	SO:0001630	splice_region_variant	55743				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133448979T>C	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.234-1A>G	12.37:g.133448979T>C						CHFR_ENST00000432561.2_Splice_Site_p.T79_splice|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000315585.7_Splice_Site_p.T79_splice|CHFR_ENST00000450056.2_Splice_Site_p.T79_splice|CHFR_ENST00000443047.2_Splice_Site_p.T79_splice	p.T79_splice			Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	4	298	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	79			FHA.		A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Splice_Site	SNP	ENST00000432561.2	37	c.233_splice	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.519577	0.44866	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000432561;ENST00000540963	D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.7	4.56	0.56223	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.099482	0.64402	N	0.000002	T	0.81631	0.4863	L	0.42529	1.33	0.80722	D	1	B;B;B;B;B	0.12013	0.001;0.004;0.005;0.004;0.002	B;B;B;B;B	0.24269	0.003;0.031;0.052;0.031;0.009	T	0.76255	-0.3026	10	0.62326	D	0.03	-14.8443	7.154	0.25626	0.1307:0.0718:0.0:0.7975	.	79;79;79;79;79	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	A	79	ENSP00000320557:T79A;ENSP00000416431:T79A;ENSP00000398735:T79A;ENSP00000266880:T79A;ENSP00000392395:T79A;ENSP00000441837:T79A	ENSP00000266880:T79A	T	-	1	0	CHFR	131959052	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	4.203000	0.58453	0.995000	0.38917	0.496000	0.49642	ACC		0.378	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2		Missense_Mutation	7	104	0	0	0	1	0	7	104				
PCDHGB4	8641	broad.mit.edu	37	5	140769676	140769676	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140769676G>A	ENST00000519479.1	+	1	2225	c.2225G>A	c.(2224-2226)aGc>aAc	p.S742N	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	742					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAACTACAGCGAGGGGACT	0.512																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(2224-2226)aGc>aAc									216.0	225.0	222.0					5																	140769676		1940	4144	6084	SO:0001583	missense	8641							g.chr5:140769676G>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.2225G>A	5.37:g.140769676G>A	ENSP00000428288:p.Ser742Asn					PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.S742N	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2225	+								O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.2225G>A	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	8.389	0.839321	0.16891	.	.	ENSG00000253953	ENST00000519479	T	0.51325	0.71	5.63	0.879	0.19155	.	.	.	.	.	T	0.37839	0.1018	L	0.48986	1.54	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.14578	0.011;0.005	T	0.31081	-0.9956	9	0.16896	T	0.51	.	9.4119	0.38496	0.5148:0.0:0.4852:0.0	.	742;742	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	N	742	ENSP00000428288:S742N	ENSP00000428288:S742N	S	+	2	0	PCDHGB4	140749860	0.000000	0.05858	0.226000	0.23910	0.948000	0.59901	-0.509000	0.06336	0.071000	0.16664	-0.244000	0.11960	AGC		0.512	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		107	308	0	0	0	1	0	107	308				
INPP5D	3635	broad.mit.edu	37	2	233995270	233995270	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:233995270G>A	ENST00000359570.5	+	5	577	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	INPP5D_ENST00000538935.1_Missense_Mutation_p.A193T|INPP5D_ENST00000474278.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	193					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CACTCAGCTCGCCCAGGACTC	0.453																																					NSCLC(82;1215 1426 16163 20348 41018)	ENST00000359570.5																			0				central_nervous_system(1)|ovary(1)	2						c.(577-579)Gcc>Acc		inositol polyphosphate-5-phosphatase, 145kDa							56.0	54.0	55.0					2																	233995270		1914	4132	6046	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:233995270G>A	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.577G>A	2.37:g.233995270G>A	ENSP00000352575:p.Ala193Thr					INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Missense_Mutation_p.A193T	p.A193T			Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	5	577	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	193					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.577G>A		.	.	.	.	.	.	.	.	.	.	G	6.549	0.469482	0.12461	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.96168	-2.9;-2.9;-3.93;-3.93	5.34	-10.7	0.00240	.	1.758750	0.02102	N	0.054015	D	0.85613	0.5737	.	.	.	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.76997	-0.2751	9	0.12766	T	0.61	.	2.3735	0.04336	0.4532:0.1587:0.0826:0.3056	.	192;193	Q92835-2;Q92835	.;SHIP1_HUMAN	T	192;193;193;193	ENSP00000409018:A192T;ENSP00000415253:A193T;ENSP00000352575:A193T;ENSP00000441010:A193T	ENSP00000352575:A193T	A	+	1	0	INPP5D	233703514	0.000000	0.05858	0.000000	0.03702	0.910000	0.53928	-1.264000	0.02847	-3.761000	0.00110	-0.906000	0.02833	GCC		0.453	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		12	42	0	0	0	1	0	12	42				
PIK3R6	146850	broad.mit.edu	37	17	8738683	8738683	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:8738683T>C	ENST00000311434.9	-	8	791	c.552A>G	c.(550-552)acA>acG	p.T184T	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	184					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										AGGTCTCTGGTGTCTGCTGCG	0.647																																						ENST00000311434.9																			0											c.(550-552)acA>acG		phosphoinositide-3-kinase, regulatory subunit 6							22.0	25.0	24.0					17																	8738683		2057	4184	6241	SO:0001819	synonymous_variant	146850				platelet activation	cytosol		g.chr17:8738683T>C	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.552A>G	17.37:g.8738683T>C						PIK3R6_ENST00000434064.2_5'UTR	p.T184T	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN			8	791	-			184					Q658R3	Silent	SNP	ENST00000311434.9	37	c.552A>G																																																																																					0.647	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		11	24	0	0	0	1	0	11	24				
ZBTB26	57684	broad.mit.edu	37	9	125682060	125682060	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:125682060C>T	ENST00000373656.3	-	2	227	c.154G>A	c.(154-156)Gct>Act	p.A52T	ZBTB26_ENST00000373654.1_Missense_Mutation_p.A52T	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	52	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						GAACCTGCAGCAAACACAATT	0.353																																						ENST00000373656.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(154-156)Gct>Act		zinc finger and BTB domain containing 26							52.0	52.0	52.0					9																	125682060		2203	4300	6503	SO:0001583	missense	57684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125682060C>T	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23383	protein-coding gene	gene with protein product			"""zinc finger protein 481"""	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.154G>A	9.37:g.125682060C>T	ENSP00000362760:p.Ala52Thr					ZBTB26_ENST00000373654.1_Missense_Mutation_p.A52T	p.A52T	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN			2	227	-			52			BTB.		B3KQ53|Q8WTR1	Missense_Mutation	SNP	ENST00000373656.3	37	c.154G>A	CCDS6847.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262629	0.39995	.	.	ENSG00000171448	ENST00000373656;ENST00000373654	T;T	0.73363	-0.74;-0.74	5.25	4.35	0.52113	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.87237	0.6127	M	0.87547	2.89	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.89288	0.3617	10	0.87932	D	0	.	13.8528	0.63508	0.0:0.9267:0.0:0.0733	.	52	Q9HCK0	ZBT26_HUMAN	T	52	ENSP00000362760:A52T;ENSP00000362758:A52T	ENSP00000362758:A52T	A	-	1	0	ZBTB26	124721881	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	7.487000	0.81328	1.215000	0.43411	-0.140000	0.14226	GCT		0.353	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924		9	28	0	0	0	1	0	9	28				
ANKRD26	22852	broad.mit.edu	37	10	27335415	27335415	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:27335415T>C	ENST00000376087.4	-	18	2017	c.1852A>G	c.(1852-1854)Act>Gct	p.T618A	ANKRD26_ENST00000436985.2_Missense_Mutation_p.T634A|ANKRD26_ENST00000376070.3_Missense_Mutation_p.T175A	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	617					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCTTTTTCAGTGCTCTTTACT	0.393																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(1852-1854)Act>Gct		ankyrin repeat domain 26							125.0	116.0	118.0					10																	27335415		1817	4085	5902	SO:0001583	missense	22852					centrosome		g.chr10:27335415T>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1852A>G	10.37:g.27335415T>C	ENSP00000365255:p.Thr618Ala					ANKRD26_ENST00000436985.2_Missense_Mutation_p.T634A|ANKRD26_ENST00000376070.3_Missense_Mutation_p.T175A	p.T618A	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			18	2017	-			617					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.1852A>G	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	T	1.236	-0.622706	0.03636	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.29655	4.05;4.33;1.56	4.34	-0.997	0.10215	.	2.734730	0.02076	U	0.051973	T	0.20820	0.0501	L	0.40543	1.245	0.09310	N	1	B;B;B	0.16396	0.017;0.01;0.017	B;B;B	0.12156	0.004;0.002;0.007	T	0.07790	-1.0754	10	0.15499	T	0.54	.	0.7218	0.00942	0.3723:0.1093:0.1579:0.3606	.	618;617;634	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	A	175;618;634	ENSP00000365238:T175A;ENSP00000365255:T618A;ENSP00000405112:T634A	ENSP00000365238:T175A	T	-	1	0	ANKRD26	27375421	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	0.083000	0.14871	0.202000	0.20498	0.248000	0.18094	ACT		0.393	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			16	44	0	0	0	1	0	16	44				
TRIO	7204	broad.mit.edu	37	5	14290832	14290832	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:14290832T>C	ENST00000344204.4	+	5	572	c.548T>C	c.(547-549)aTg>aCg	p.M183T	TRIO_ENST00000509967.2_Missense_Mutation_p.M134T|TRIO_ENST00000537187.1_Missense_Mutation_p.M183T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	183	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AAGACAAATATGGTCTCTTTA	0.363																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(547-549)aTg>aCg		trio Rho guanine nucleotide exchange factor							68.0	64.0	66.0					5																	14290832		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14290832T>C	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.548T>C	5.37:g.14290832T>C	ENSP00000339299:p.Met183Thr					TRIO_ENST00000509967.2_Missense_Mutation_p.M134T|TRIO_ENST00000537187.1_Missense_Mutation_p.M183T	p.M183T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			5	572	+	Lung NSC(4;0.000742)		183			CRAL-TRIO.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.548T>C	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054236	0.36277	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967	T;T;T	0.62788	0.0;0.0;0.0	5.32	5.32	0.75619	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	L	0.33339	1.005	0.80722	D	1	D;P	0.61697	0.99;0.625	D;B	0.73380	0.98;0.333	T	0.67409	-0.5678	10	0.32370	T	0.25	.	15.2882	0.73846	0.0:0.0:0.0:1.0	.	134;183	F5H228;O75962	.;TRIO_HUMAN	T	183;183;134	ENSP00000339299:M183T;ENSP00000446348:M183T;ENSP00000445592:M134T	ENSP00000339299:M183T	M	+	2	0	TRIO	14343832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.027000	0.59764	0.460000	0.39030	ATG		0.363	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		5	31	0	0	0	1	0	5	31				
KIAA2026	158358	broad.mit.edu	37	9	5969030	5969030	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:5969030G>A	ENST00000399933.3	-	3	1200	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S	KIAA2026_ENST00000381461.2_Missense_Mutation_p.P401S	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	401										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AAAAACTGAGGACACAACCCC	0.423																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(1201-1203)Cct>Tct		KIAA2026							39.0	39.0	39.0					9																	5969030		1836	4083	5919	SO:0001583	missense	158358							g.chr9:5969030G>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.1201C>T	9.37:g.5969030G>A	ENSP00000382815:p.Pro401Ser					KIAA2026_ENST00000381461.2_Missense_Mutation_p.P401S	p.P401S	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	3	1200	-		Acute lymphoblastic leukemia(23;0.158)	401					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.1201C>T		.	.	.	.	.	.	.	.	.	.	G	10.68	1.418373	0.25552	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	6.08	6.08	0.98989	.	0.133442	0.33346	U	0.005011	T	0.36580	0.0972	N	0.14661	0.345	0.36837	D	0.88718	B	0.30709	0.291	B	0.28553	0.091	T	0.42327	-0.9458	9	0.46703	T	0.11	.	13.8168	0.63297	0.0695:0.0:0.9305:0.0	.	401	Q5HYC2	K2026_HUMAN	S	401;401;334	.	ENSP00000370870:P401S	P	-	1	0	KIAA2026	5959030	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	7.655000	0.83696	2.894000	0.99253	0.591000	0.81541	CCT		0.423	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		10	21	0	0	0	1	0	10	21				
ZNF426	79088	broad.mit.edu	37	19	9644626	9644626	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:9644626T>C	ENST00000535489.1	-	3	470	c.134A>G	c.(133-135)gAc>gGc	p.D45G	ZNF426_ENST00000589289.1_Missense_Mutation_p.D45G|ZNF426_ENST00000253115.2_Missense_Mutation_p.D45G|ZNF426_ENST00000593003.1_Missense_Mutation_p.D7G			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGCCACATCGTCAAAGGTCAC	0.522																																						ENST00000593003.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(19-21)gAc>gGc		zinc finger protein 426							135.0	112.0	120.0					19																	9644626		2203	4300	6503	SO:0001583	missense	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9644626T>C	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"""Zinc fingers, C2H2-type"", ""-"""	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.134A>G	19.37:g.9644626T>C	ENSP00000439017:p.Asp45Gly					ZNF426_ENST00000535489.1_Missense_Mutation_p.D45G|ZNF426_ENST00000253115.2_Missense_Mutation_p.D45G|ZNF426_ENST00000589289.1_Missense_Mutation_p.D45G	p.D7G			Q9BUY5	ZN426_HUMAN			3	497	-			45					B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	c.20A>G	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.251174	0.39797	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.01665	4.7;4.7	1.41	-1.26	0.09376	Krueppel-associated box (4);	.	.	.	.	T	0.01661	0.0053	L	0.42487	1.325	0.09310	N	1	B;B	0.31949	0.348;0.348	B;B	0.28139	0.086;0.086	T	0.43376	-0.9395	9	0.54805	T	0.06	.	3.4142	0.07369	0.0:0.1782:0.4594:0.3624	.	32;45	Q59EH4;Q9BUY5	.;ZN426_HUMAN	G	32;45;45	ENSP00000253115:D45G;ENSP00000439017:D45G	ENSP00000253115:D45G	D	-	2	0	ZNF426	9505626	0.002000	0.14202	0.002000	0.10522	0.378000	0.30076	0.028000	0.13644	-0.461000	0.06993	0.260000	0.18958	GAC		0.522	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		11	140	0	0	0	1	0	11	140				
FBXL18	80028	broad.mit.edu	37	7	5541181	5541181	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:5541181C>T	ENST00000382368.3	-	3	842	c.719G>A	c.(718-720)gGc>gAc	p.G240D	FBXL18_ENST00000453700.3_Missense_Mutation_p.G240D	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	240									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GTTGATGTAGCCGGGGGCCAG	0.652																																						ENST00000382368.3																		FBXL18/RNF216(2)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21						c.(718-720)gGc>gAc		F-box and leucine-rich repeat protein 18							30.0	36.0	34.0					7																	5541181		2065	4186	6251	SO:0001583	missense	80028							g.chr7:5541181C>T	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.719G>A	7.37:g.5541181C>T	ENSP00000371805:p.Gly240Asp					FBXL18_ENST00000453700.3_Missense_Mutation_p.G240D	p.G240D	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	842	-		Ovarian(82;0.0607)	240					Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.719G>A	CCDS43546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.157663|4.157663	0.78114|0.78114	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000458142|ENST00000382368;ENST00000312577;ENST00000453700	.|T;T	.|0.70045	.|-0.35;-0.45	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73606|0.73606	0.3608|0.3608	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.71377|0.71377	-0.4611|-0.4611	5|10	.|0.32370	.|T	.|0.25	.|.	18.1629|18.1629	0.89716|0.89716	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|240;240	.|F5H4Z4;Q96ME1-4	.|.;.	T|D	124|240	.|ENSP00000371805:G240D;ENSP00000444797:G240D	.|ENSP00000311990:G240D	A|G	-|-	1|2	0|0	FBXL18|FBXL18	5507707|5507707	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.893000|0.893000	0.52053|0.52053	2.727000|2.727000	0.47311|0.47311	2.528000|2.528000	0.85240|0.85240	0.655000|0.655000	0.94253|0.94253	GCT|GGC		0.652	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		13	32	0	0	0	1	0	13	32				
POLR3B	55703	broad.mit.edu	37	12	106850954	106850954	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:106850954A>G	ENST00000228347.4	+	21	2554	c.2332A>G	c.(2332-2334)Acg>Gcg	p.T778A	POLR3B_ENST00000539066.1_Missense_Mutation_p.T720A	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	778					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TGCTAAATGTACGTTGAAACG	0.408																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(2332-2334)Acg>Gcg		polymerase (RNA) III (DNA directed) polypeptide B							189.0	176.0	180.0					12																	106850954		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106850954A>G	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2332A>G	12.37:g.106850954A>G	ENSP00000228347:p.Thr778Ala					POLR3B_ENST00000539066.1_Missense_Mutation_p.T720A	p.T778A	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			21	2554	+			778					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.2332A>G	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.904642	0.33628	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.71461	-0.57;-0.57	6.01	6.01	0.97437	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	T	0.62986	0.2473	L	0.45422	1.42	0.80722	D	1	B	0.10296	0.003	B	0.15052	0.012	T	0.58769	-0.7578	10	0.11794	T	0.64	-20.6978	16.5285	0.84344	1.0:0.0:0.0:0.0	.	778	Q9NW08	RPC2_HUMAN	A	778;720	ENSP00000228347:T778A;ENSP00000445721:T720A	ENSP00000228347:T778A	T	+	1	0	POLR3B	105375084	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	9.300000	0.96151	2.307000	0.77673	0.528000	0.53228	ACG		0.408	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		41	105	0	0	0	1	0	41	105				
ANP32E	81611	broad.mit.edu	37	1	150201458	150201458	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:150201458C>T	ENST00000314136.8	-	4	809	c.440G>A	c.(439-441)gGa>gAa	p.G147E	ANP32E_ENST00000369116.4_Intron|ANP32E_ENST00000369119.3_Missense_Mutation_p.G99E|ANP32E_ENST00000436748.2_Missense_Mutation_p.G106E|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000533654.1_Intron|ANP32E_ENST00000369115.2_Intron	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	147	LRRCT.				histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGATCAAATCCATCTAAGTA	0.378																																						ENST00000314136.8																			0				breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15						c.(439-441)gGa>gAa		acidic (leucine-rich) nuclear phosphoprotein 32 family, member E							109.0	105.0	106.0					1																	150201458		2203	4300	6503	SO:0001583	missense	81611					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity	g.chr1:150201458C>T	AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"""ANP32 acidic nuclear phosphoproteins"""	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.440G>A	1.37:g.150201458C>T	ENSP00000324074:p.Gly147Glu					ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369119.3_Missense_Mutation_p.G99E|ANP32E_ENST00000369115.2_Intron|ANP32E_ENST00000436748.2_Missense_Mutation_p.G106E|ANP32E_ENST00000369116.4_Intron|ANP32E_ENST00000533654.1_Intron	p.G147E	NM_001136478.2|NM_030920.3	NP_001129950.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	809	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		147			LRRCT.		B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Missense_Mutation	SNP	ENST00000314136.8	37	c.440G>A	CCDS946.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760852	0.49468	.	.	ENSG00000143401	ENST00000314136;ENST00000369119;ENST00000436748;ENST00000534220;ENST00000532744	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.97	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	M	0.88979	2.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.65380	-0.6182	10	0.87932	D	0	.	14.0249	0.64580	0.0:0.9281:0.0:0.0719	.	106;147;99	E9PEA6;Q9BTT0;Q5TB20	.;AN32E_HUMAN;.	E	147;99;106;25;97	ENSP00000324074:G147E;ENSP00000358115:G99E;ENSP00000393718:G106E;ENSP00000432684:G97E	ENSP00000324074:G147E	G	-	2	0	ANP32E	148468082	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.329000	0.79170	1.522000	0.49001	0.655000	0.94253	GGA		0.378	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1	NM_030920		24	78	0	0	0	1	0	24	78				
PCDHGA3	56112	broad.mit.edu	37	5	140724107	140724107	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140724107C>A	ENST00000253812.6	+	1	507	c.507C>A	c.(505-507)aaC>aaA	p.N169K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	169	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N169K(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGCAGAACTACAAGCTTA	0.493																																						ENST00000253812.6																			1	Substitution - Missense(1)	p.N169K(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)	1						c.(505-507)aaC>aaA									90.0	88.0	89.0					5																	140724107		1960	4153	6113	SO:0001583	missense	56112							g.chr5:140724107C>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.507C>A	5.37:g.140724107C>A	ENSP00000253812:p.Asn169Lys					PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.N169K	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	507	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.507C>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	6.075	0.382071	0.11524	.	.	ENSG00000254245	ENST00000253812	T	0.19394	2.15	5.65	3.84	0.44239	Cadherin (3);Cadherin-like (1);	0.493846	0.14435	U	0.319794	T	0.12689	0.0308	N	0.21617	0.685	0.24989	N	0.991549	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.27606	-1.0069	10	0.25751	T	0.34	.	6.4118	0.21696	0.1362:0.6622:0.1313:0.0703	.	169;169	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	K	169	ENSP00000253812:N169K	ENSP00000253812:N169K	N	+	3	2	PCDHGA3	140704291	0.001000	0.12720	1.000000	0.80357	0.976000	0.68499	-0.027000	0.12371	0.826000	0.34661	0.655000	0.94253	AAC		0.493	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		41	151	1	0	1.7489e-18	1	1.84115e-18	41	151				
CNOT11	55571	broad.mit.edu	37	2	101883179	101883179	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:101883179A>G	ENST00000289382.3	+	5	1239	c.1076A>G	c.(1075-1077)cAt>cGt	p.H359R		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	359					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											CTTGTCTACCATATTGGCCTC	0.423																																						ENST00000289382.3																			0											c.(1075-1077)cAt>cGt		CCR4-NOT transcription complex, subunit 11							143.0	141.0	142.0					2																	101883179		2203	4300	6503	SO:0001583	missense	55571							g.chr2:101883179A>G	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.1076A>G	2.37:g.101883179A>G	ENSP00000289382:p.His359Arg						p.H359R	NM_017546.4	NP_060016.3					5	1239	+								Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	c.1076A>G	CCDS2050.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574344	0.86542	.	.	ENSG00000158435	ENST00000289382	.	.	.	5.95	5.95	0.96441	.	0.095189	0.64402	D	0.000001	T	0.77837	0.4190	M	0.75777	2.31	0.80722	D	1	D	0.71674	0.998	D	0.65987	0.94	T	0.77923	-0.2406	9	0.42905	T	0.14	-24.65	16.4237	0.83790	1.0:0.0:0.0:0.0	.	359	Q9UKZ1	CB029_HUMAN	R	359	.	ENSP00000289382:H359R	H	+	2	0	C2orf29	101249611	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.210000	0.95106	2.279000	0.76181	0.533000	0.62120	CAT		0.423	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		6	175	0	0	0	1	0	6	175				
ANKRD35	148741	broad.mit.edu	37	1	145558913	145558913	+	Nonsense_Mutation	SNP	C	C	T	rs151076205		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:145558913C>T	ENST00000355594.4	+	7	619	c.532C>T	c.(532-534)Cga>Tga	p.R178*	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	178										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGAGGCGCCCGAGTTAATGT	0.552																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(532-534)Cga>Tga		ankyrin repeat domain 35		C	stop/ARG	0,4406		0,0,2203	84.0	81.0	82.0		532	3.7	1.0	1	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ANKRD35	NM_144698.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		178/1002	145558913	1,13005	2203	4300	6503	SO:0001587	stop_gained	148741							g.chr1:145558913C>T	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.532C>T	1.37:g.145558913C>T	ENSP00000347802:p.Arg178*					ANKRD35_ENST00000544626.1_3'UTR	p.R178*	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			7	619	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		178					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Nonsense_Mutation	SNP	ENST00000355594.4	37	c.532C>T	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	36	5.717760	0.96839	0.0	1.16E-4	ENSG00000198483	ENST00000453670;ENST00000355594	.	.	.	5.65	3.74	0.42951	.	0.180866	0.26435	N	0.024384	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-7.8459	11.2676	0.49120	0.3331:0.6669:0.0:0.0	.	.	.	.	X	87;178	.	ENSP00000347802:R178X	R	+	1	2	ANKRD35	144270270	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	0.659000	0.24994	0.703000	0.31848	0.655000	0.94253	CGA		0.552	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		35	141	0	0	0	1	0	35	141				
GRIK2	2898	broad.mit.edu	37	6	102074490	102074490	+	Silent	SNP	G	G	A	rs147153195		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:102074490G>A	ENST00000421544.1	+	3	1009	c.519G>A	c.(517-519)acG>acA	p.T173T	GRIK2_ENST00000413795.1_Silent_p.T173T|GRIK2_ENST00000369134.4_Silent_p.T124T|GRIK2_ENST00000318991.6_Silent_p.T173T|GRIK2_ENST00000358361.3_Silent_p.T173T|GRIK2_ENST00000369138.1_Silent_p.T173T|GRIK2_ENST00000369137.3_Silent_p.T173T	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	173					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AAACCGTCACGGTTGTGTATG	0.398																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(517-519)acG>acA		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)	G	,,	2,4404	4.2+/-10.8	0,2,2201	68.0	72.0	70.0		519,519,519	-5.4	0.8	6	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	GRIK2	NM_001166247.1,NM_021956.4,NM_175768.3	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	173/893,173/909,173/870	102074490	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102074490G>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.519G>A	6.37:g.102074490G>A						GRIK2_ENST00000369134.4_Silent_p.T124T|GRIK2_ENST00000413795.1_Silent_p.T173T|GRIK2_ENST00000421544.1_Silent_p.T173T|GRIK2_ENST00000358361.3_Silent_p.T173T|GRIK2_ENST00000318991.6_Silent_p.T173T|GRIK2_ENST00000369137.3_Silent_p.T173T	p.T173T	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	3	1009	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	173					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	ENST00000421544.1	37	c.519G>A	CCDS5048.1																																																																																				0.398	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			13	59	0	0	0	1	0	13	59				
ZBTB40	9923	broad.mit.edu	37	1	22843857	22843857	+	Silent	SNP	C	C	T	rs148077022		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:22843857C>T	ENST00000375647.4	+	13	2940	c.2733C>T	c.(2731-2733)caC>caT	p.H911H	ZBTB40_ENST00000404138.1_Silent_p.H911H|ZBTB40_ENST00000374651.4_Silent_p.H799H|ZBTB40-IT1_ENST00000438551.1_RNA	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	911					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGTCCCGCCACGTGAGGACCC	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		20611	0.0		0.001	False		,,,				2504	0.0					ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2731-2733)caC>caT		zinc finger and BTB domain containing 40		C	,	0,4406		0,0,2203	121.0	109.0	113.0		2733,2733	-1.8	1.0	1	dbSNP_134	113	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ZBTB40	NM_001083621.1,NM_014870.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	911/1240,911/1240	22843857	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22843857C>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2733C>T	1.37:g.22843857C>T						ZBTB40_ENST00000375647.4_Silent_p.H911H|ZBTB40_ENST00000374651.4_Silent_p.H799H	p.H911H	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	14	3244	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	911					O75066|Q5TFU5|Q8N1R1	Silent	SNP	ENST00000375647.4	37	c.2733C>T	CCDS224.1																																																																																				0.532	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		38	104	0	0	0	1	0	38	104				
PROCR	10544	broad.mit.edu	37	20	33764535	33764535	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:33764535C>T	ENST00000216968.4	+	4	718	c.636C>T	c.(634-636)gtC>gtT	p.V212V	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	212					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CTTCGCTGGTCCTGGGCGTCC	0.547																																						ENST00000216968.4																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(634-636)gtC>gtT		protein C receptor, endothelial	Drotrecogin alfa(DB00055)						95.0	75.0	82.0					20																	33764535		2203	4300	6503	SO:0001819	synonymous_variant	10544				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	g.chr20:33764535C>T	L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.636C>T	20.37:g.33764535C>T						EDEM2_ENST00000540582.1_Intron	p.V212V	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0152)		4	718	+			212					B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Silent	SNP	ENST00000216968.4	37	c.636C>T	CCDS13248.1																																																																																				0.547	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3			13	25	0	0	0	1	0	13	25				
SUGCT	79783	broad.mit.edu	37	7	40228095	40228095	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:40228095A>G	ENST00000335693.4	+	4	272	c.249A>G	c.(247-249)ggA>ggG	p.G83G	C7orf10_ENST00000540834.1_Splice_Site_p.G76G|C7orf10_ENST00000309930.5_Splice_Site_p.G83G|C7orf10_ENST00000401647.2_Splice_Site_p.G83G	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		83					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TATTTTCAGGAGCTGGTGATG	0.378																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.e4-1		chromosome 7 open reading frame 10							55.0	53.0	53.0					7																	40228095		1817	4075	5892	SO:0001630	splice_region_variant	79783						transferase activity	g.chr7:40228095A>G																												ENST00000335693.4:c.248-1A>G	7.37:g.40228095A>G						C7orf10_ENST00000335693.4_Splice_Site_p.G83_splice|C7orf10_ENST00000540834.1_Splice_Site_p.G76_splice|C7orf10_ENST00000401647.2_Splice_Site_p.G83_splice	p.G83_splice	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN			4	273	+			83					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Splice_Site	SNP	ENST00000335693.4	37	c.247_splice	CCDS55105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.76|13.76	2.332546|2.332546	0.41297|0.41297	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000416370|ENST00000413931	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|.	.|.	.|.	.|.	T|T	0.71143|0.71143	0.3305|0.3305	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.70285|0.70285	-0.4914|-0.4914	4|4	.|.	.|.	.|.	.|.	14.8962|14.8962	0.70646|0.70646	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	G|G	78|95	.|.	.|.	E|S	+|+	2|1	0|0	C7orf10|C7orf10	40194620|40194620	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	1.713000|1.713000	0.37951|0.37951	2.213000|2.213000	0.71641|0.71641	0.477000|0.477000	0.44152|0.44152	GAG|AGC		0.378	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1		Silent	9	22	0	0	0	1	0	9	22				
TYK2	7297	broad.mit.edu	37	19	10478977	10478977	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10478977C>T	ENST00000525621.1	-	4	792	c.311G>A	c.(310-312)cGc>cAc	p.R104H	TYK2_ENST00000264818.6_Missense_Mutation_p.R104H|TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Missense_Mutation_p.R104H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	104	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.R104L(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCACCTTATGCGGAAATATAG	0.552																																						ENST00000525621.1																			1	Substitution - Missense(1)	p.R104L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(310-312)cGc>cAc		tyrosine kinase 2							158.0	141.0	147.0					19																	10478977		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10478977C>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.311G>A	19.37:g.10478977C>T	ENSP00000431885:p.Arg104His					TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Missense_Mutation_p.R104H|TYK2_ENST00000264818.6_Missense_Mutation_p.R104H	p.R104H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		4	792	-			104			FERM.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.311G>A	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735436	0.89482	.	.	ENSG00000105397	ENST00000525621;ENST00000264818;ENST00000529370;ENST00000531836	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.01	5.01	0.66863	Band 4.1 domain (1);FERM domain (1);	0.000000	0.49916	D	0.000133	D	0.88217	0.6377	M	0.83774	2.66	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.89834	0.3998	10	0.87932	D	0	-41.1729	13.8262	0.63352	0.0:1.0:0.0:0.0	.	104;104	E9PPF2;P29597	.;TYK2_HUMAN	H	104	ENSP00000431885:R104H;ENSP00000264818:R104H;ENSP00000432728:R104H;ENSP00000436175:R104H	ENSP00000264818:R104H	R	-	2	0	TYK2	10339977	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	6.387000	0.73191	2.325000	0.78763	0.544000	0.68410	CGC		0.552	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			5	238	0	0	0	1	0	5	238				
MAP4K1	11184	broad.mit.edu	37	19	39087709	39087709	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:39087709A>G	ENST00000591517.1	-	25	1934	c.1906T>C	c.(1906-1908)Tgg>Cgg	p.W636R	MAP4K1_ENST00000396857.2_Missense_Mutation_p.W636R|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000589130.1_Missense_Mutation_p.W632R	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	636	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCTGGTACCACTGAAGCAGG	0.597																																						ENST00000591517.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(1906-1908)Tgg>Cgg		mitogen-activated protein kinase kinase kinase kinase 1							71.0	80.0	77.0					19																	39087709		2103	4203	6306	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39087709A>G	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1906T>C	19.37:g.39087709A>G	ENSP00000465039:p.Trp636Arg					MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000396857.2_Missense_Mutation_p.W636R|MAP4K1_ENST00000589130.1_Missense_Mutation_p.W632R|CTB-186G2.1_ENST00000589557.1_RNA	p.W636R	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		25	1934	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		636			CNH.			Missense_Mutation	SNP	ENST00000591517.1	37	c.1906T>C	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.551295	0.86127	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.06449	3.3	5.16	5.16	0.70880	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00681	-1.1612	10	0.87932	D	0	.	12.6451	0.56729	1.0:0.0:0.0:0.0	.	636;636	Q92918-2;Q92918	.;M4K1_HUMAN	R	636	ENSP00000380066:W636R	ENSP00000221409:W636R	W	-	1	0	MAP4K1	43779549	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.532000	0.73825	2.176000	0.68965	0.454000	0.30748	TGG		0.597	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		37	105	0	0	0	1	0	37	105				
KIAA0391	9692	broad.mit.edu	37	14	35742694	35742694	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:35742694A>G	ENST00000557565.1	+	8	2055	c.1674A>G	c.(1672-1674)atA>atG	p.I558M	KIAA0391_ENST00000321130.10_Missense_Mutation_p.I542M|KIAA0391_ENST00000603544.1_Missense_Mutation_p.I542M|KIAA0391_ENST00000250377.7_Missense_Mutation_p.I463M|KIAA0391_ENST00000605870.1_Missense_Mutation_p.I186M|KIAA0391_ENST00000604948.1_Missense_Mutation_p.I463M|KIAA0391_ENST00000534898.4_Missense_Mutation_p.I558M	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	558					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CGTGGCACATACCATATGATG	0.408																																						ENST00000557565.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1672-1674)atA>atG		KIAA0391							121.0	102.0	109.0					14																	35742694		2203	4300	6503	SO:0001583	missense	9692				tRNA processing	mitochondrion		g.chr14:35742694A>G	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1674A>G	14.37:g.35742694A>G	ENSP00000454657:p.Ile558Met					KIAA0391_ENST00000604948.1_Missense_Mutation_p.I463M|KIAA0391_ENST00000534898.4_Missense_Mutation_p.I558M|KIAA0391_ENST00000605870.1_Missense_Mutation_p.I186M|KIAA0391_ENST00000603544.1_Missense_Mutation_p.I542M|KIAA0391_ENST00000250377.7_Missense_Mutation_p.I463M|KIAA0391_ENST00000321130.10_Missense_Mutation_p.I542M	p.I558M			O15091	MRRP3_HUMAN	Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)	8	2055	+	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		558					B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Missense_Mutation	SNP	ENST00000557565.1	37	c.1674A>G	CCDS32063.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.941339	0.73557	.	.	ENSG00000100890	ENST00000554896;ENST00000250377;ENST00000321130;ENST00000534898;ENST00000556121;ENST00000556912	T;T;T	0.56941	0.52;0.43;0.44	6.01	0.547	0.17202	.	0.054747	0.64402	D	0.000002	T	0.68081	0.2962	M	0.83483	2.645	0.47476	D	0.999433	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.64989	-0.6277	10	0.72032	D	0.01	-16.2646	6.4729	0.22018	0.4039:0.2361:0.0:0.36	.	542;558	O15091-2;O15091	.;MRRP3_HUMAN	M	463;463;542;558;542;186	ENSP00000250377:I463M;ENSP00000324697:I542M;ENSP00000440915:I558M	ENSP00000250377:I463M	I	+	3	3	KIAA0391	34812445	0.985000	0.35326	0.996000	0.52242	0.991000	0.79684	0.219000	0.17641	-0.130000	0.11599	-0.321000	0.08615	ATA		0.408	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672		12	43	0	0	0	1	0	12	43				
DENND4A	10260	broad.mit.edu	37	15	65983808	65983808	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:65983808T>C	ENST00000431932.2	-	22	3200	c.2992A>G	c.(2992-2994)Aca>Gca	p.T998A	DENND4A_ENST00000567323.1_5'Flank|DENND4A_ENST00000443035.3_Missense_Mutation_p.T1041A	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	998					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GTTTCATTTGTATCTTCAAGA	0.338																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(3121-3123)Aca>Gca		DENN/MADD domain containing 4A							73.0	58.0	63.0					15																	65983808		1834	4077	5911	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65983808T>C	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.2992A>G	15.37:g.65983808T>C	ENSP00000396830:p.Thr998Ala					DENND4A_ENST00000431932.2_Missense_Mutation_p.T998A	p.T1041A	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			23	3336	-			998					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.3121A>G	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	T	3.111	-0.182682	0.06340	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.04862	3.55;3.54	5.5	0.24	0.15489	.	4.235490	0.00987	N	0.003462	T	0.03915	0.0110	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32851	-0.9891	10	0.08179	T	0.78	.	1.4943	0.02463	0.2268:0.1367:0.1175:0.519	.	1041;998	E7EPL3;Q7Z401	.;MYCPP_HUMAN	A	1041;998	ENSP00000391167:T1041A;ENSP00000396830:T998A	ENSP00000396830:T998A	T	-	1	0	DENND4A	63770862	0.522000	0.26266	0.613000	0.29037	0.213000	0.24496	0.874000	0.28065	-0.144000	0.11314	0.460000	0.39030	ACA		0.338	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		5	16	0	0	0	1	0	5	16				
ZFP64	55734	broad.mit.edu	37	20	50769809	50769809	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:50769809T>C	ENST00000216923.4	-	6	1271	c.922A>G	c.(922-924)Atc>Gtc	p.I308V	ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.I306V|ZFP64_ENST00000346617.4_Missense_Mutation_p.I254V|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	308					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(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGTGCTTGATACGGATGTGC	0.572																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(922-924)Atc>Gtc		ZFP64 zinc finger protein							136.0	123.0	127.0					20																	50769809		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769809T>C	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.922A>G	20.37:g.50769809T>C	ENSP00000216923:p.Ile308Val					ZFP64_ENST00000346617.4_Missense_Mutation_p.I254V|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.I306V|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron	p.I308V	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			6	1271	-			308					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.922A>G	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.197228	0.38806	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.07114	3.22;3.25;3.22	5.86	4.7	0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.097710	0.44097	D	0.000491	T	0.05960	0.0155	N	0.12569	0.235	0.33409	D	0.578382	P;B;B	0.41008	0.735;0.177;0.177	B;B;B	0.39805	0.31;0.072;0.079	T	0.25398	-1.0133	10	0.45353	T	0.12	-30.2695	12.7675	0.57401	0.0:0.0:0.1366:0.8634	.	254;306;308	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	V	308;254;306;150;461	ENSP00000216923:I308V;ENSP00000344615:I254V;ENSP00000360570:I306V	ENSP00000216923:I308V	I	-	1	0	ZFP64	50203216	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.853000	0.62911	2.240000	0.73641	0.533000	0.62120	ATC		0.572	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		29	82	0	0	0	1	0	29	82				
SPTA1	6708	broad.mit.edu	37	1	158637733	158637733	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:158637733A>G	ENST00000368147.4	-	15	2133	c.1953T>C	c.(1951-1953)ggT>ggC	p.G651G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	651					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGGCATAGTGACCACCCTCAA	0.473																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1951-1953)ggT>ggC		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							146.0	139.0	141.0					1																	158637733		1870	4099	5969	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158637733A>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1953T>C	1.37:g.158637733A>G						SPTA1_ENST00000368147.3_Silent_p.G651G	p.G651G	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			15	2133	-	all_hematologic(112;0.0378)		651					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.1953T>C	CCDS41423.1																																																																																				0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		24	97	0	0	0	1	0	24	97				
RUNX2	860	broad.mit.edu	37	6	45390427	45390427	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:45390427G>A	ENST00000371438.1	+	2	514	c.156G>A	c.(154-156)caG>caA	p.Q52Q	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000352853.5_Silent_p.Q120Q|RUNX2_ENST00000576263.1_Silent_p.Q52Q|RUNX2_ENST00000371436.6_Silent_p.Q52Q|RUNX2_ENST00000541979.1_Silent_p.Q120Q|RUNX2_ENST00000371432.3_Silent_p.Q38Q|RUNX2_ENST00000359524.5_Silent_p.Q38Q|RUNX2_ENST00000465038.2_Silent_p.Q52Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	52	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						aacagcagcagcaacagcagc	0.716																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(154-156)caG>caA		runt-related transcription factor 2							21.0	29.0	26.0					6																	45390427		1833	3697	5530	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390427G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.156G>A	6.37:g.45390427G>A						RUNX2_ENST00000541979.1_Silent_p.Q120Q|RUNX2_ENST00000371436.6_Silent_p.Q52Q|RUNX2_ENST00000465038.2_Silent_p.Q52Q|RUNX2_ENST00000359524.5_Silent_p.Q38Q|RUNX2_ENST00000576263.1_Silent_p.Q52Q|RUNX2_ENST00000371432.3_Silent_p.Q38Q|RUNX2_ENST00000352853.5_Silent_p.Q120Q	p.Q52Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	514	+			52			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.156G>A	CCDS43467.2																																																																																				0.716	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		26	74	0	0	0	1	0	26	74				
UCN3	114131	broad.mit.edu	37	10	5415734	5415734	+	Silent	SNP	C	C	G	rs376416490		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:5415734C>G	ENST00000380433.3	+	2	279	c.51C>G	c.(49-51)ggC>ggG	p.G17G		NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN	urocortin 3	17					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|digestion (GO:0007586)|positive regulation of insulin secretion (GO:0032024)|positive regulation of membrane potential (GO:0045838)|response to corticosterone (GO:0051412)|response to glucose (GO:0009749)|response to immobilization stress (GO:0035902)|response to starvation (GO:0042594)	axon terminus (GO:0043679)|extracellular space (GO:0005615)|varicosity (GO:0043196)				endometrium(1)|large_intestine(1)	2						TCCTGGGGGGCCCCAGGACAG	0.637																																						ENST00000380433.3																			0				endometrium(1)|large_intestine(1)	2						c.(49-51)ggC>ggG		urocortin 3							40.0	44.0	43.0					10																	5415734		2203	4300	6503	SO:0001819	synonymous_variant	114131					extracellular region	hormone activity	g.chr10:5415734C>G	AF361943	CCDS7065.1	10p15.1	2013-02-28	2012-10-17		ENSG00000178473	ENSG00000178473		"""Endogenous ligands"""	17781	protein-coding gene	gene with protein product	"""stresscopin"", ""prepro-urocortin 3"""	605901				11416224	Standard	NM_053049		Approved	UCNIII, SPC	uc001ihx.1	Q969E3	OTTHUMG00000017594	ENST00000380433.3:c.51C>G	10.37:g.5415734C>G							p.G17G	NM_053049.2	NP_444277.2	Q969E3	UCN3_HUMAN			2	279	+			17					Q496H2|Q5SR91	Silent	SNP	ENST00000380433.3	37	c.51C>G	CCDS7065.1																																																																																				0.637	UCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046547.1	NM_053049		5	87	0	0	0	1	0	5	87				
KRI1	65095	broad.mit.edu	37	19	10670071	10670071	+	Silent	SNP	G	G	A	rs537254433		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10670071G>A	ENST00000312962.6	-	12	1195	c.1176C>T	c.(1174-1176)gaC>gaT	p.D392D	KRI1_ENST00000361821.5_Silent_p.D388D|KRI1_ENST00000537964.1_5'Flank	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	386	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGTCGAAGTCGTCTTCAAGGT	0.587																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1174-1176)gaC>gaT		KRI1 homolog (S. cerevisiae)							89.0	82.0	84.0					19																	10670071		2203	4300	6503	SO:0001819	synonymous_variant	65095							g.chr19:10670071G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1176C>T	19.37:g.10670071G>A						KRI1_ENST00000361821.5_Silent_p.D388D	p.D392D	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		12	1195	-			392			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	ENST00000312962.6	37	c.1176C>T	CCDS12242.1																																																																																				0.587	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		24	60	0	0	0	1	0	24	60				
DTX2	113878	broad.mit.edu	37	7	76112069	76112069	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:76112069C>T	ENST00000324432.5	+	5	1023	c.513C>T	c.(511-513)agC>agT	p.S171S	DTX2_ENST00000413936.2_Silent_p.S171S|DTX2_ENST00000430490.2_Silent_p.S171S|DTX2_ENST00000307569.8_Silent_p.S171S|DTX2_ENST00000446820.2_Silent_p.S171S|DTX2_ENST00000446600.1_Silent_p.S80S	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	171	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S171S(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TCTGCCGCAGCGTGCGGCGCC	0.652																																						ENST00000324432.5																			1	Substitution - coding silent(1)	p.S171S(1)	endometrium(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(511-513)agC>agT		deltex homolog 2 (Drosophila)							56.0	50.0	52.0					7																	76112069		2203	4300	6503	SO:0001819	synonymous_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112069C>T		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.513C>T	7.37:g.76112069C>T						DTX2_ENST00000307569.8_Silent_p.S171S|DTX2_ENST00000413936.2_Silent_p.S171S|DTX2_ENST00000446600.1_Silent_p.S80S|DTX2_ENST00000446820.2_Silent_p.S171S|DTX2_ENST00000430490.2_Silent_p.S171S	p.S171S	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	1023	+			171			WWE 2.		Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	ENST00000324432.5	37	c.513C>T	CCDS5587.1																																																																																				0.652	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			23	52	0	0	0	1	0	23	52				
ATP6V1B2	526	broad.mit.edu	37	8	20073950	20073950	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:20073950A>G	ENST00000276390.2	+	11	1145	c.1105A>G	c.(1105-1107)Act>Gct	p.T369A		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	369					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	CCCAGACTTGACTGGCTACAT	0.498																																					Pancreas(119;1230 1726 3901 4036 31644)	ENST00000276390.2																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)	9						c.(1105-1107)Act>Gct		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2							129.0	107.0	115.0					8																	20073950		2203	4300	6503	SO:0001583	missense	526				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr8:20073950A>G	L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"""ATPases / V-type"""	854	protein-coding gene	gene with protein product		606939	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2"", ""ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"""	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.1105A>G	8.37:g.20073950A>G	ENSP00000276390:p.Thr369Ala						p.T369A	NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN		Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	11	1145	+			369					B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	37	c.1105A>G	CCDS6014.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.765052	0.90020	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	T	0.81163	-1.46	5.63	5.63	0.86233	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89763	0.6809	M	0.86740	2.835	0.80722	D	1	D	0.57899	0.981	P	0.61658	0.892	D	0.91520	0.5234	10	0.87932	D	0	-15.0112	14.9609	0.71156	1.0:0.0:0.0:0.0	.	369	P21281	VATB2_HUMAN	A	369;243	ENSP00000276390:T369A	ENSP00000276390:T369A	T	+	1	0	ATP6V1B2	20118230	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	9.284000	0.95882	2.258000	0.74832	0.533000	0.62120	ACT		0.498	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		11	86	0	0	0	1	0	11	86				
MPP1	4354	broad.mit.edu	37	X	154014572	154014572	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:154014572A>T	ENST00000369534.3	-	6	731	c.584T>A	c.(583-585)aTc>aAc	p.I195N	MPP1_ENST00000462825.1_5'UTR|MPP1_ENST00000393531.1_Missense_Mutation_p.I175N|MPP1_ENST00000413259.3_Missense_Mutation_p.I165N	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	195	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCCTTGTTGATAATCTGGAT	0.517																																						ENST00000413259.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21						c.(493-495)aTc>aAc		membrane protein, palmitoylated 1, 55kDa							313.0	284.0	294.0					X																	154014572		2203	4300	6503	SO:0001583	missense	4354				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	g.chrX:154014572A>T		CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.584T>A	X.37:g.154014572A>T	ENSP00000358547:p.Ile195Asn					MPP1_ENST00000393531.1_Missense_Mutation_p.I175N|MPP1_ENST00000369534.3_Missense_Mutation_p.I195N|MPP1_ENST00000462825.1_5'UTR	p.I165N	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN			7	886	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		195			SH3.		B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	37	c.494T>A	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.637974	0.87760	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531;ENST00000453245;ENST00000393529;ENST00000428488	T;T;T;T;T;T	0.55760	2.92;2.92;0.5;2.92;2.92;2.92	5.3	5.3	0.74995	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.79353	0.4431	H	0.94306	3.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;0.998	D;D;D;D;D	0.91635	0.999;0.992;0.999;0.991;0.992	D	0.85027	0.0915	10	0.87932	D	0	.	13.0519	0.58960	1.0:0.0:0.0:0.0	.	178;165;69;175;195	B4E325;B4DZV5;C9J9J4;G3XAI1;Q00013	.;.;.;.;EM55_HUMAN	N	195;165;175;69;149;92	ENSP00000358547:I195N;ENSP00000400155:I165N;ENSP00000377165:I175N;ENSP00000410888:I69N;ENSP00000377163:I149N;ENSP00000391701:I92N	ENSP00000358547:I195N	I	-	2	0	MPP1	153667766	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.295000	0.96095	1.758000	0.51981	0.417000	0.27973	ATC		0.517	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436		9	371	0	0	0	1	0	9	371				
CHD4	1108	broad.mit.edu	37	12	6680033	6680033	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:6680033A>G	ENST00000357008.2	-	39	5885		c.e39+1		NOP2_ENST00000322166.5_5'Flank|NOP2_ENST00000540228.1_5'Flank|NOP2_ENST00000537442.1_5'Flank|NOP2_ENST00000545915.1_5'Flank|NOP2_ENST00000382421.3_5'Flank|NOP2_ENST00000542015.1_5'Flank|NOP2_ENST00000541778.1_5'Flank|NOP2_ENST00000399466.2_5'Flank|CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|NOP2_ENST00000545200.1_5'Flank|CHD4_ENST00000309577.6_Splice_Site	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						AAATGGTCCTACCTGCTGTGG	0.527																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.e38+1		chromodomain helicase DNA binding protein 4							174.0	160.0	165.0					12																	6680033		2203	4300	6503	SO:0001630	splice_region_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6680033A>G	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.5721+1T>C	12.37:g.6680033A>G						CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000357008.2_Splice_Site				Q14839	CHD4_HUMAN			38	5969	-								Q8IXZ5	Splice_Site	SNP	ENST00000357008.2	37		CCDS8552.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094828	0.36952	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	4.78	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6974	0.40165	0.825:0.175:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD4	6550294	1.000000	0.71417	0.909000	0.35828	0.788000	0.44548	3.739000	0.55075	0.820000	0.34516	0.482000	0.46254	.		0.527	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	Intron	57	228	0	0	0	1	0	57	228				
CHRNG	1146	broad.mit.edu	37	2	233406216	233406216	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:233406216G>A	ENST00000389494.3	+	5	504	c.483G>A	c.(481-483)tgG>tgA	p.W161*	CHRNG_ENST00000389492.3_Intron	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	161					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CCTTCGACTGGCAGAACTGCT	0.582																																						ENST00000389494.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22						c.(481-483)tgG>tgA		cholinergic receptor, nicotinic, gamma (muscle)							199.0	172.0	181.0					2																	233406216		2203	4300	6503	SO:0001587	stop_gained	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233406216G>A	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.483G>A	2.37:g.233406216G>A	ENSP00000374145:p.Trp161*					CHRNG_ENST00000389492.3_Intron	p.W161*	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	5	504	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	161					B3KWM8|Q14DU4|Q53RG2	Nonsense_Mutation	SNP	ENST00000389494.3	37	c.483G>A	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078997	0.94050	.	.	ENSG00000196811	ENST00000389494;ENST00000541596	.	.	.	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7496	0.88430	0.0:0.0:1.0:0.0	.	.	.	.	X	161	.	ENSP00000374145:W161X	W	+	3	0	CHRNG	233114460	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.654000	0.67974	2.180000	0.69256	0.462000	0.41574	TGG		0.582	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		6	181	0	0	0	1	0	6	181				
ALDH3A1	218	broad.mit.edu	37	17	19645443	19645443	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:19645443C>T	ENST00000457500.2	-	4	892	c.563G>A	c.(562-564)gGc>gAc	p.G188D	ALDH3A1_ENST00000444455.1_Missense_Mutation_p.G188D|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.G188D|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.G188D|ALDH3A1_ENST00000485231.1_5'Flank|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.G115D	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	188					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		CCCCGTGCTGCCCGTGTACAG	0.587																																						ENST00000457500.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(562-564)gGc>gAc		aldehyde dehydrogenase 3 family, member A1	NADH(DB00157)						160.0	110.0	127.0					17																	19645443		2203	4300	6503	SO:0001583	missense	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19645443C>T	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.563G>A	17.37:g.19645443C>T	ENSP00000411821:p.Gly188Asp					ALDH3A1_ENST00000395555.3_Missense_Mutation_p.G188D|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.G188D|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.G188D|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.G115D	p.G188D	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	4	892	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		188					A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	c.563G>A	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.180345	0.78677	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102;ENST00000426645	D;D;D;D;D	0.99264	-5.65;-5.65;-5.65;-5.65;-5.65	4.49	3.52	0.40303	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	H	0.99619	4.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97432	1.0016	10	0.87932	D	0	.	11.5251	0.50576	0.0:0.9117:0.0:0.0883	.	188;305;188	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	D	188;188;246;188;188;115;188;188	ENSP00000225740:G188D;ENSP00000378923:G188D;ENSP00000388469:G188D;ENSP00000411821:G188D;ENSP00000389766:G188D	ENSP00000225740:G188D	G	-	2	0	ALDH3A1	19586035	1.000000	0.71417	0.075000	0.20258	0.931000	0.56810	7.213000	0.77950	0.894000	0.36317	0.462000	0.41574	GGC		0.587	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		36	67	0	0	0	1	0	36	67				
SERTAD3	29946	broad.mit.edu	37	19	40947495	40947495	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:40947495G>A	ENST00000322354.3	-	2	989	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W	SERTAD3_ENST00000601217.1_5'Flank|CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000392028.4_Missense_Mutation_p.R165W	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	165					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGTGGGGCCCGTGCAGGCTCC	0.527																																						ENST00000322354.3																			0				kidney(1)|large_intestine(4)|lung(2)	7						c.(493-495)Cgg>Tgg		SERTA domain containing 3							79.0	86.0	84.0					19																	40947495		2203	4300	6503	SO:0001583	missense	29946				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr19:40947495G>A	AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"""RPA-binding trans-activator"""	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.493C>T	19.37:g.40947495G>A	ENSP00000325414:p.Arg165Trp					SERTAD3_ENST00000392028.4_Missense_Mutation_p.R165W	p.R165W	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	989	-			165					B3KQB3|Q96CQ2	Missense_Mutation	SNP	ENST00000322354.3	37	c.493C>T	CCDS12558.1	.	.	.	.	.	.	.	.	.	.	G	1.594	-0.528345	0.04112	.	.	ENSG00000167565	ENST00000322354;ENST00000392028	.	.	.	5.7	3.49	0.39957	.	0.767318	0.10848	N	0.627471	T	0.26666	0.0652	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26189	-1.0110	9	0.66056	D	0.02	-13.6083	12.7754	0.57443	0.0:0.3163:0.6837:0.0	.	165	Q9UJW9	SRTD3_HUMAN	W	165	.	ENSP00000325414:R165W	R	-	1	2	SERTAD3	45639335	0.001000	0.12720	0.001000	0.08648	0.049000	0.14656	1.006000	0.29847	0.819000	0.34492	0.655000	0.94253	CGG		0.527	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462573.1	NM_013368		60	142	0	0	0	1	0	60	142				
ZNF37A	7587	broad.mit.edu	37	10	38406835	38406835	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:38406835C>T	ENST00000361085.5	+	7	1101	c.756C>T	c.(754-756)ttC>ttT	p.F252F	ZNF37A_ENST00000351773.3_Silent_p.F252F	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	252					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GAACATTTTTCAGTGAAAAAT	0.358																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(754-756)ttC>ttT		zinc finger protein 37A							54.0	58.0	56.0					10																	38406835		2203	4300	6503	SO:0001819	synonymous_variant	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38406835C>T	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.756C>T	10.37:g.38406835C>T						ZNF37A_ENST00000361085.4_Silent_p.F252F	p.F252F	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	1586	+			252					B3KRQ3|D3DRZ3|Q96B88	Silent	SNP	ENST00000361085.5	37	c.756C>T	CCDS31183.1																																																																																				0.358	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		4	109	0	0	0	1	0	4	109				
FAM118A	55007	broad.mit.edu	37	22	45719118	45719118	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:45719118G>A	ENST00000216214.3	+	4	944	c.110G>A	c.(109-111)gGc>gAc	p.G37D	FAM118A_ENST00000441876.2_Missense_Mutation_p.G37D|FAM118A_ENST00000405673.1_Missense_Mutation_p.G37D	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	37						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATCGGGACTGGCGTCAGCGCA	0.552																																						ENST00000216214.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(109-111)gGc>gAc		family with sequence similarity 118, member A							45.0	50.0	48.0					22																	45719118		2203	4300	6503	SO:0001583	missense	55007					integral to membrane		g.chr22:45719118G>A	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 8"""	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.110G>A	22.37:g.45719118G>A	ENSP00000216214:p.Gly37Asp					FAM118A_ENST00000441876.2_Missense_Mutation_p.G37D|FAM118A_ENST00000405673.1_Missense_Mutation_p.G37D	p.G37D	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	4	944	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	37					B3KWG4|B4DY02|Q5TII5|Q96CY3	Missense_Mutation	SNP	ENST00000216214.3	37	c.110G>A	CCDS14065.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655122	0.67472	.	.	ENSG00000100376	ENST00000216214;ENST00000441876;ENST00000405673;ENST00000427777	D;D;T;T	0.91577	-2.87;-2.87;-0.33;-0.16	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.92489	0.7615	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93591	0.6921	10	0.87932	D	0	-4.4537	19.0034	0.92842	0.0:0.0:1.0:0.0	.	37	Q9NWS6	F118A_HUMAN	D	37	ENSP00000216214:G37D;ENSP00000395892:G37D;ENSP00000385231:G37D;ENSP00000395194:G37D	ENSP00000216214:G37D	G	+	2	0	FAM118A	44097782	1.000000	0.71417	0.121000	0.21740	0.004000	0.04260	9.464000	0.97655	2.634000	0.89283	0.650000	0.86243	GGC		0.552	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		32	70	0	0	0	1	0	32	70				
COL14A1	7373	broad.mit.edu	37	8	121219311	121219311	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:121219311C>T	ENST00000297848.3	+	10	1439	c.1169C>T	c.(1168-1170)aCc>aTc	p.T390I	COL14A1_ENST00000537875.1_Missense_Mutation_p.T390I|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.T390I|COL14A1_ENST00000247781.3_Missense_Mutation_p.T295I	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TATTATCCTACCAGGGGTGGA	0.398																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1168-1170)aCc>aTc		collagen, type XIV, alpha 1							57.0	54.0	55.0					8																	121219311		2203	4299	6502	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121219311C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1169C>T	8.37:g.121219311C>T	ENSP00000297848:p.Thr390Ile					COL14A1_ENST00000537875.1_Missense_Mutation_p.T390I|COL14A1_ENST00000247781.3_Missense_Mutation_p.T295I|COL14A1_ENST00000309791.4_Missense_Mutation_p.T390I|COL14A1_ENST00000432943.2_3'UTR	p.T390I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		10	1439	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		390			Fibronectin type-III 2.			Missense_Mutation	SNP	ENST00000297848.3	37	c.1169C>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532759	0.64972	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37	5.93	5.93	0.95920	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.275476	0.41194	D	0.000926	T	0.44265	0.1285	L	0.50919	1.6	0.33640	D	0.607172	P;P	0.42757	0.789;0.627	B;B	0.33799	0.134;0.17	T	0.58216	-0.7675	10	0.26408	T	0.33	.	15.789	0.78338	0.0:0.8646:0.1354:0.0	.	390;390	Q05707-2;Q05707	.;COEA1_HUMAN	I	390;390;390;295;203	ENSP00000443974:T390I;ENSP00000311809:T390I;ENSP00000297848:T390I;ENSP00000247781:T295I;ENSP00000409461:T203I	ENSP00000247781:T295I	T	+	2	0	COL14A1	121288492	0.980000	0.34600	1.000000	0.80357	0.982000	0.71751	3.607000	0.54102	2.814000	0.96858	0.591000	0.81541	ACC		0.398	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		9	44	0	0	0	1	0	9	44				
SERPINB9	5272	broad.mit.edu	37	6	2890411	2890411	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:2890411A>G	ENST00000380698.4	-	7	1206	c.1117T>C	c.(1117-1119)Ttc>Ctc	p.F373L		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	373					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GGCGATGAGAACCTGCCACAG	0.537																																						ENST00000380698.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15						c.(1117-1119)Ttc>Ctc		serpin peptidase inhibitor, clade B (ovalbumin), member 9							65.0	60.0	61.0					6																	2890411		2203	4300	6503	SO:0001583	missense	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2890411A>G	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.1117T>C	6.37:g.2890411A>G	ENSP00000370074:p.Phe373Leu						p.F373L	NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN			7	1206	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	373					B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	37	c.1117T>C	CCDS4478.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.529258	0.85706	.	.	ENSG00000170542	ENST00000380698	D	0.82344	-1.6	4.66	4.66	0.58398	Serpin domain (3);	0.205804	0.51477	D	0.000097	T	0.80757	0.4684	L	0.58510	1.815	0.48236	D	0.999611	P	0.37708	0.606	P	0.48571	0.582	T	0.81048	-0.1109	10	0.38643	T	0.18	.	13.9779	0.64284	1.0:0.0:0.0:0.0	.	373	P50453	SPB9_HUMAN	L	373	ENSP00000370074:F373L	ENSP00000370074:F373L	F	-	1	0	SERPINB9	2835410	1.000000	0.71417	0.989000	0.46669	0.841000	0.47740	7.001000	0.76297	2.025000	0.59659	0.533000	0.62120	TTC		0.537	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			10	49	0	0	0	1	0	10	49				
EXOC3	11336	broad.mit.edu	37	5	466859	466859	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:466859C>T	ENST00000512944.1	+	13	2273	c.2084C>T	c.(2083-2085)gCg>gTg	p.A695V	EXOC3_ENST00000315013.5_Missense_Mutation_p.A695V|CTD-2228K2.5_ENST00000510714.1_Intron	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	706					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CACATCGGTGCGCTGCTGGCT	0.657																																						ENST00000512944.1																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23						c.(2083-2085)gCg>gTg		exocyst complex component 3							36.0	43.0	41.0					5																	466859		2197	4290	6487	SO:0001583	missense	11336				exocytosis|protein transport			g.chr5:466859C>T	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.2084C>T	5.37:g.466859C>T	ENSP00000425587:p.Ala695Val					EXOC3_ENST00000315013.5_Missense_Mutation_p.A695V|CTD-2228K2.5_ENST00000510714.1_Intron	p.A695V	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		13	2273	+		Ovarian(839;0.0563)	706					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	37	c.2084C>T	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706719	0.68615	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.09538	2.97;2.97	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	M	0.69463	2.115	0.80722	D	1	D	0.58620	0.983	P	0.59012	0.85	T	0.00436	-1.1740	10	0.41790	T	0.15	-12.4182	16.3451	0.83120	0.0:1.0:0.0:0.0	.	706	O60645	EXOC3_HUMAN	V	695;695;590	ENSP00000425587:A695V;ENSP00000323377:A695V	ENSP00000323377:A695V	A	+	2	0	EXOC3	519859	1.000000	0.71417	0.066000	0.19879	0.736000	0.42039	5.062000	0.64326	2.471000	0.83476	0.305000	0.20034	GCG		0.657	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		21	50	0	0	0	1	0	21	50				
HTT	3064	broad.mit.edu	37	4	3240680	3240680	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:3240680T>C	ENST00000355072.5	+	66	9335	c.9190T>C	c.(9190-9192)Tcc>Ccc	p.S3064P		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	3064					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGTCAGCGCGTCCACCAGCCC	0.617																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(9190-9192)Tcc>Ccc		huntingtin							21.0	24.0	23.0					4																	3240680		2122	4214	6336	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3240680T>C	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.9190T>C	4.37:g.3240680T>C	ENSP00000347184:p.Ser3064Pro						p.S3064P	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	66	9335	+		all_epithelial(65;0.18)	3064					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.9190T>C	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.384607	0.82792	.	.	ENSG00000197386	ENST00000355072	T	0.22134	1.97	4.83	4.83	0.62350	.	0.120327	0.64402	D	0.000016	T	0.46210	0.1381	M	0.75615	2.305	0.58432	D	0.999999	D	0.71674	0.998	D	0.77557	0.99	T	0.50101	-0.8867	10	0.87932	D	0	.	13.8545	0.63517	0.0:0.0:0.0:1.0	.	3064	P42858	HD_HUMAN	P	3064	ENSP00000347184:S3064P	ENSP00000347184:S3064P	S	+	1	0	HTT	3210478	1.000000	0.71417	0.838000	0.33150	0.425000	0.31504	6.234000	0.72326	1.921000	0.55644	0.455000	0.32223	TCC		0.617	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		7	22	0	0	0	1	0	7	22				
CRB2	286204	broad.mit.edu	37	9	126133465	126133465	+	Missense_Mutation	SNP	G	G	A	rs571013901	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:126133465G>A	ENST00000373631.3	+	8	2045	c.2044G>A	c.(2044-2046)Gct>Act	p.A682T	CRB2_ENST00000359999.3_Missense_Mutation_p.A682T|CRB2_ENST00000373629.2_Missense_Mutation_p.A350T	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	682	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCGGGAGTCCGCTGGCCTGTT	0.612													G|||	2	0.000399361	0.0	0.0014	5008	,	,		20042	0.0		0.0	False		,,,				2504	0.001					ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(2044-2046)Gct>Act		crumbs homolog 2 (Drosophila)							128.0	137.0	134.0					9																	126133465		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126133465G>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.2044G>A	9.37:g.126133465G>A	ENSP00000362734:p.Ala682Thr					CRB2_ENST00000359999.3_Missense_Mutation_p.A682T|CRB2_ENST00000373629.2_Missense_Mutation_p.A350T	p.A682T	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			8	2045	+			682			Laminin G-like 2.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.2044G>A	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	.	9.487	1.099773	0.20552	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.78481	-1.18;-1.18;-1.18	5.08	-0.703	0.11261	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.327832	0.22178	N	0.063560	T	0.62877	0.2464	L	0.59436	1.845	0.09310	N	1	B;B	0.12630	0.003;0.006	B;B	0.12837	0.002;0.008	T	0.40683	-0.9550	10	0.08179	T	0.78	.	3.9112	0.09204	0.3872:0.0:0.3383:0.2746	.	682;682	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	T	682;682;350	ENSP00000353092:A682T;ENSP00000362734:A682T;ENSP00000362732:A350T	ENSP00000353092:A682T	A	+	1	0	CRB2	125173286	0.000000	0.05858	0.082000	0.20525	0.046000	0.14306	0.621000	0.24418	0.162000	0.19483	-0.311000	0.09066	GCT		0.612	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		72	231	0	0	0	1	0	72	231				
SLC39A3	29985	broad.mit.edu	37	19	2737027	2737027	+	Intron	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:2737027G>A	ENST00000269740.4	-	2	540				AC006538.4_ENST00000586572.1_Intron|SLC39A3_ENST00000545664.1_Intron|SLC39A3_ENST00000590875.1_5'Flank|SLC39A3_ENST00000455372.2_Silent_p.L77L	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCTGCTAGTGCCCAGGGA	0.557																																						ENST00000455372.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10						c.(229-231)Cta>Tta		solute carrier family 39 (zinc transporter), member 3							46.0	43.0	44.0					19																	2737027		2203	4300	6503	SO:0001627	intron_variant	29985					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr19:2737027G>A	AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"""Solute carriers"""	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.210+18C>T	19.37:g.2737027G>A						SLC39A3_ENST00000545664.1_Intron|SLC39A3_ENST00000269740.4_Intron|AC006538.4_ENST00000586572.1_Intron	p.L77L	NM_213568.1	NP_998733.1	Q9BRY0	S39A3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	434	-		Hepatocellular(1079;0.137)	0					B3KMJ3|Q8WUG1	Silent	SNP	ENST00000269740.4	37	c.229C>T	CCDS12093.1																																																																																				0.557	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2			15	27	0	0	0	1	0	15	27				
MAN2B2	23324	broad.mit.edu	37	4	6611559	6611559	+	Missense_Mutation	SNP	C	C	T	rs377039829		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:6611559C>T	ENST00000285599.3	+	13	2077	c.2041C>T	c.(2041-2043)Cgc>Tgc	p.R681C	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R630C|MAN2B2_ENST00000504960.1_3'UTR	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	681					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GTATGCAATCCGCTCCCGGCT	0.572																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(2041-2043)Cgc>Tgc		mannosidase, alpha, class 2B, member 2			CYS/ARG	0,4406		0,0,2203	77.0	79.0	78.0		2041	0.2	0.0	4		78	1,8599	1.2+/-3.3	0,1,4299	no	missense	MAN2B2	NM_015274.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	681/1010	6611559	1,13005	2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6611559C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.2041C>T	4.37:g.6611559C>T	ENSP00000285599:p.Arg681Cys					MAN2B2_ENST00000504248.1_Missense_Mutation_p.R630C|MAN2B2_ENST00000504960.1_3'UTR	p.R681C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			13	2077	+			681					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.2041C>T	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	c	9.809	1.182639	0.21870	0.0	1.16E-4	ENSG00000013288	ENST00000285599;ENST00000504248	T;T	0.78364	-1.17;-1.17	4.28	0.166	0.14999	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.616553	0.17323	N	0.178421	T	0.66066	0.2752	N	0.14661	0.345	0.09310	N	1	D;D;D	0.61080	0.989;0.981;0.987	P;P;P	0.51701	0.677;0.677;0.642	T	0.60005	-0.7347	10	0.40728	T	0.16	-9.5755	7.8723	0.29573	0.0:0.2342:0.0:0.7658	.	630;681;681	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	C	681;630	ENSP00000285599:R681C;ENSP00000423129:R630C	ENSP00000285599:R681C	R	+	1	0	MAN2B2	6662460	0.000000	0.05858	0.029000	0.17559	0.025000	0.11179	0.642000	0.24735	-0.317000	0.08677	-0.482000	0.04802	CGC		0.572	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		25	88	0	0	0	1	0	25	88				
GPC2	221914	broad.mit.edu	37	7	99769416	99769416	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:99769416T>C	ENST00000292377.2	-	7	1323	c.1156A>G	c.(1156-1158)Aac>Gac	p.N386D	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	386					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGTGCAGGTTGGTGCCTGCG	0.771																																						ENST00000292377.2																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18						c.(1156-1158)Aac>Gac		glypican 2							4.0	4.0	4.0					7																	99769416		1428	3223	4651	SO:0001583	missense	221914					anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr7:99769416T>C	BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"""Proteoglycans / Cell Surface : Glypicans"""	4450	protein-coding gene	gene with protein product	"""glypican proteoglycan 2, cerebroglycan proteoglycan"""		"""glypican 2 (cerebroglycan)"""			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.1156A>G	7.37:g.99769416T>C	ENSP00000292377:p.Asn386Asp					GPC2_ENST00000471050.1_5'UTR	p.N386D	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN			7	1323	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		386					A4D2A7	Missense_Mutation	SNP	ENST00000292377.2	37	c.1156A>G	CCDS5689.1	.	.	.	.	.	.	.	.	.	.	T	11.99	1.804700	0.31961	.	.	ENSG00000213420	ENST00000292377	T	0.51574	0.7	4.3	4.3	0.51218	.	0.297335	0.34133	N	0.004223	T	0.36166	0.0957	L	0.45228	1.405	0.35294	D	0.782409	B	0.29612	0.251	B	0.26202	0.067	T	0.42716	-0.9435	10	0.16896	T	0.51	-14.5538	11.4001	0.49864	0.0:0.0:0.0:1.0	.	386	Q8N158	GPC2_HUMAN	D	386	ENSP00000292377:N386D	ENSP00000292377:N386D	N	-	1	0	GPC2	99607352	1.000000	0.71417	0.847000	0.33407	0.163000	0.22366	3.794000	0.55492	1.587000	0.49959	0.254000	0.18369	AAC		0.771	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742		7	10	0	0	0	1	0	7	10				
WNK4	65266	broad.mit.edu	37	17	40936504	40936504	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:40936504C>T	ENST00000246914.5	+	4	1098	c.1077C>T	c.(1075-1077)taC>taT	p.Y359Y		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	359	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGGACGTGTACGCGTTCGGCA	0.587																																					Esophageal Squamous(6;201 374 4964 23855 42828)	ENST00000246914.5																			0				NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35						c.(1075-1077)taC>taT		WNK lysine deficient protein kinase 4							117.0	92.0	100.0					17																	40936504		2203	4300	6503	SO:0001819	synonymous_variant	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40936504C>T	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1077C>T	17.37:g.40936504C>T							p.Y359Y	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	4	1098	+		Breast(137;0.000143)	359			Protein kinase.		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	ENST00000246914.5	37	c.1077C>T	CCDS11439.1																																																																																				0.587	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			14	34	0	0	0	1	0	14	34				
SEPT5	5413	broad.mit.edu	37	22	19709193	19709193	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:19709193A>G	ENST00000455784.2	+	9	873	c.748A>G	c.(748-750)Aac>Gac	p.N250D	SEPT5_ENST00000383045.3_Missense_Mutation_p.N259D|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000438754.2_Missense_Mutation_p.N259D|SEPT5_ENST00000406395.1_Missense_Mutation_p.N250D	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	250	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TATAGGCAGCAACACGGTGGT	0.642																																						ENST00000438754.2																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(775-777)Aac>Gac		septin 5							38.0	47.0	44.0					22																	19709193		2203	4299	6502	SO:0001583	missense	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19709193A>G	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.748A>G	22.37:g.19709193A>G	ENSP00000391311:p.Asn250Asp					SEPT5_ENST00000406395.1_Missense_Mutation_p.N250D|SEPT5_ENST00000383045.3_Missense_Mutation_p.N259D|SEPT5_ENST00000455784.2_Missense_Mutation_p.N250D	p.N259D	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN			8	1055	+	Colorectal(54;0.0993)		250					O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	c.775A>G	CCDS13764.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.425995	0.83667	.	.	ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754	T;T;T;T;T;T	0.52983	1.4;1.4;1.4;0.64;1.4;1.4	3.92	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.49338	0.1551	L	0.55834	1.745	0.80722	D	1	B	0.33299	0.407	B	0.42319	0.383	T	0.50171	-0.8859	10	0.37606	T	0.19	.	12.8985	0.58113	1.0:0.0:0.0:0.0	.	250	Q99719	SEPT5_HUMAN	D	250;250;203;288;259;259	ENSP00000391311:N250D;ENSP00000384535:N250D;ENSP00000408678:N203D;ENSP00000414488:N288D;ENSP00000372515:N259D;ENSP00000394541:N259D	ENSP00000372515:N259D	N	+	1	0	SEPT5	18089193	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.947000	0.70242	1.787000	0.52448	0.391000	0.25812	AAC		0.642	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		7	117	0	0	0	1	0	7	117				
GDF10	2662	broad.mit.edu	37	10	48429034	48429034	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:48429034C>T	ENST00000224605.2	-	2	1117	c.852G>A	c.(850-852)gcG>gcA	p.A284A		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	284					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGCGGGGGTCCGCTGAGTTGT	0.726																																						ENST00000224605.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(850-852)gcG>gcA		growth differentiation factor 10							6.0	9.0	8.0					10																	48429034		2102	4161	6263	SO:0001819	synonymous_variant	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48429034C>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.852G>A	10.37:g.48429034C>T							p.A284A	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			2	1117	-			284					Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	c.852G>A	CCDS7220.1																																																																																				0.726	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		9	23	0	0	0	1	0	9	23				
SCLY	51540	broad.mit.edu	37	2	238990440	238990440	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:238990440C>T	ENST00000555827.1	+	5	639	c.575C>T	c.(574-576)aCc>aTc	p.T192I	SCLY_ENST00000373332.3_Missense_Mutation_p.T110I|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000422984.2_Missense_Mutation_p.T98I|SCLY_ENST00000254663.6_Missense_Mutation_p.T200I|SCLY_ENST00000409736.2_Missense_Mutation_p.T192I			Q96I15	SCLY_HUMAN	selenocysteine lyase	192					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CGCCTCGTGACCATCATGCTG	0.572																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	ENST00000254663.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22						c.(598-600)aCc>aTc		selenocysteine lyase							105.0	86.0	93.0					2																	238990440		2203	4300	6503	SO:0001583	missense	51540				cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	g.chr2:238990440C>T	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.575C>T	2.37:g.238990440C>T	ENSP00000450613:p.Thr192Ile					SCLY_ENST00000409736.2_Missense_Mutation_p.T192I|SCLY_ENST00000422984.2_Missense_Mutation_p.T98I|SCLY_ENST00000373332.3_Missense_Mutation_p.T110I|SCLY_ENST00000555827.1_Missense_Mutation_p.T192I|SCLY_ENST00000429612.2_Intron	p.T200I	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)	5	741	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	192					B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	37	c.599C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.48|19.48	3.836102|3.836102	0.71373|0.71373	.|.	.|.	ENSG00000132330|ENSG00000132330	ENST00000431487|ENST00000254663;ENST00000555827;ENST00000373332;ENST00000413463;ENST00000409736;ENST00000422984;ENST00000450965	.|T;T;T;D;T;T;T	.|0.86297	.|2.06;2.06;1.59;-2.1;1.59;2.06;1.59	5.84|5.84	4.04|4.04	0.47022|0.47022	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	.|0.055809	.|0.64402	.|D	.|0.000001	D|D	0.94198|0.94198	0.8138|0.8138	M|M	0.88181|0.88181	2.935|2.935	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.99	.|D;D;D	.|0.80764	.|0.994;0.99;0.945	D|D	0.94864|0.94864	0.8024|0.8024	5|10	.|0.87932	.|D	.|0	-5.7024|-5.7024	15.742|15.742	0.77905|0.77905	0.0:0.7413:0.2587:0.0|0.0:0.7413:0.2587:0.0	.|.	.|98;192;192	.|E7ESG3;Q96I15;Q96I15-2	.|.;SCLY_HUMAN;.	S|I	38|200;192;110;106;192;98;22	.|ENSP00000254663:T200I;ENSP00000450613:T192I;ENSP00000362429:T110I;ENSP00000414165:T106I;ENSP00000387162:T192I;ENSP00000416865:T98I;ENSP00000414053:T22I	.|ENSP00000254663:T192I	P|T	+|+	1|2	0|0	SCLY|SCLY	238655179|238655179	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.477000|0.477000	0.33069|0.33069	4.906000|4.906000	0.63293|0.63293	0.805000|0.805000	0.34159|0.34159	-0.150000|-0.150000	0.13652|0.13652	CCA|ACC		0.572	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510		21	61	0	0	0	1	0	21	61				
SP4	6671	broad.mit.edu	37	7	21521706	21521706	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:21521706G>A	ENST00000222584.3	+	5	2290	c.2072G>A	c.(2071-2073)aGt>aAt	p.S691N		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	691					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TTCACACGGAGTGATGAGCTC	0.368																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2071-2073)aGt>aAt		Sp4 transcription factor							129.0	124.0	126.0					7																	21521706		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21521706G>A		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.2072G>A	7.37:g.21521706G>A	ENSP00000222584:p.Ser691Asn						p.S691N	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			5	2290	+			691					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.2072G>A	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.868838	0.91587	.	.	ENSG00000105866	ENST00000222584	T	0.07567	3.18	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	L	0.46157	1.445	0.58432	D	0.999999	D	0.67145	0.996	D	0.62955	0.909	T	0.00034	-1.2268	10	0.87932	D	0	.	20.1935	0.98237	0.0:0.0:1.0:0.0	.	691	Q02446	SP4_HUMAN	N	691	ENSP00000222584:S691N	ENSP00000222584:S691N	S	+	2	0	SP4	21488231	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.876000	0.87215	2.779000	0.95612	0.591000	0.81541	AGT		0.368	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		6	150	0	0	0	1	0	6	150				
MITF	4286	broad.mit.edu	37	3	69987103	69987103	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:69987103A>G	ENST00000448226.2	+	3	612	c.485A>G	c.(484-486)aAc>aGc	p.N162S	MITF_ENST00000531774.1_Intron|MITF_ENST00000352241.4_Missense_Mutation_p.N162S|MITF_ENST00000314589.5_Missense_Mutation_p.N146S|MITF_ENST00000328528.6_Missense_Mutation_p.N161S|MITF_ENST00000314557.6_Missense_Mutation_p.N55S|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000394351.3_Missense_Mutation_p.N55S|MITF_ENST00000472437.1_Missense_Mutation_p.N110S|MITF_ENST00000394355.2_Missense_Mutation_p.N137S			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	162					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CCATGTCCAAACCAGCCTGGC	0.522			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)	ENST00000352241.4				Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	"""Waardenburg syndrome type 2, Tietz syndrome"""	E			melanoma		0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30						c.(484-486)aAc>aGc		microphthalmia-associated transcription factor							99.0	85.0	90.0					3																	69987103		2203	4300	6503	SO:0001583	missense	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:69987103A>G		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.485A>G	3.37:g.69987103A>G	ENSP00000391803:p.Asn162Ser					MITF_ENST00000394351.3_Missense_Mutation_p.N55S|MITF_ENST00000472437.1_Missense_Mutation_p.N110S|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000314589.5_Missense_Mutation_p.N146S|MITF_ENST00000531774.1_Intron|MITF_ENST00000314557.6_Missense_Mutation_p.N55S|MITF_ENST00000328528.6_Missense_Mutation_p.N161S|MITF_ENST00000448226.2_Missense_Mutation_p.N162S|MITF_ENST00000394355.2_Missense_Mutation_p.N137S	p.N162S	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	3	648	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	162					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37	c.485A>G		.	.	.	.	.	.	.	.	.	.	A	4.368	0.067752	0.08436	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351	T;T;T;T;T;T;T;T;T	0.20881	2.83;2.37;2.62;2.83;2.04;2.85;2.84;2.62;2.05	5.69	5.69	0.88448	.	0.086607	0.85682	D	0.000000	T	0.13200	0.0320	N	0.11927	0.2	0.46356	D	0.999006	B;B;B;B;B;B;B	0.22276	0.02;0.007;0.007;0.067;0.067;0.041;0.036	B;B;B;B;B;B;B	0.20955	0.008;0.018;0.018;0.032;0.032;0.032;0.01	T	0.14811	-1.0459	9	.	.	.	.	15.9429	0.79771	1.0:0.0:0.0:0.0	.	110;55;55;137;146;161;162	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	S	162;162;110;161;146;146;137;55;55	ENSP00000295600:N162S;ENSP00000391803:N162S;ENSP00000418845:N110S;ENSP00000327867:N161S;ENSP00000398639:N146S;ENSP00000324443:N146S;ENSP00000377884:N137S;ENSP00000324246:N55S;ENSP00000377880:N55S	.	N	+	2	0	MITF	70069793	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.122000	0.64697	2.147000	0.66899	0.533000	0.62120	AAC		0.522	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		21	76	0	0	0	1	0	21	76				
OR4K1	79544	broad.mit.edu	37	14	20403872	20403872	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:20403872G>A	ENST00000285600.4	+	1	106	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	16						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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTACTTTTGGGACTCTCTAAT	0.343																																						ENST00000285600.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(46-48)gGa>gAa		olfactory receptor, family 4, subfamily K, member 1							354.0	399.0	384.0					14																	20403872		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20403872G>A		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.47G>A	14.37:g.20403872G>A	ENSP00000285600:p.Gly16Glu						p.G16E	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	106	+	all_cancers(95;0.00108)		16					B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.47G>A	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	12.28	1.891103	0.33348	.	.	ENSG00000155249	ENST00000285600	T	0.00655	5.95	4.77	3.88	0.44766	.	0.000000	0.49916	D	0.000138	T	0.02342	0.0072	M	0.93763	3.455	0.30868	N	0.732742	B	0.33739	0.422	B	0.33339	0.162	T	0.00357	-1.1792	10	0.72032	D	0.01	.	10.9681	0.47424	0.0925:0.0:0.9075:0.0	.	16	Q8NGD4	OR4K1_HUMAN	E	16	ENSP00000285600:G16E	ENSP00000285600:G16E	G	+	2	0	OR4K1	19473712	1.000000	0.71417	0.999000	0.59377	0.343000	0.28985	3.427000	0.52785	1.234000	0.43709	0.561000	0.74099	GGA		0.343	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			60	452	0	0	0	1	0	60	452				
NCOA4	8031	broad.mit.edu	37	10	51579242	51579242	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:51579242T>C	ENST00000443446.1	+	2	330	c.101T>C	c.(100-102)gTt>gCt	p.V34A	NCOA4_ENST00000374082.1_Missense_Mutation_p.V34A|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000374087.4_Missense_Mutation_p.V34A|NCOA4_ENST00000452682.1_Missense_Mutation_p.V50A|NCOA4_ENST00000498586.1_Intron|NCOA4_ENST00000344348.6_Missense_Mutation_p.V34A|NCOA4_ENST00000438493.1_Missense_Mutation_p.V50A	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	34					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						ATTGGTGGAGTTCTCCGGGCT	0.478			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(148-150)gTt>gCt		nuclear receptor coactivator 4							136.0	135.0	135.0					10																	51579242		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51579242T>C	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.101T>C	10.37:g.51579242T>C	ENSP00000390713:p.Val34Ala					NCOA4_ENST00000438493.1_Missense_Mutation_p.V50A|NCOA4_ENST00000430396.2_Intron|NCOA4_ENST00000414907.2_Intron|NCOA4_ENST00000344348.6_Missense_Mutation_p.V34A|NCOA4_ENST00000443446.1_Missense_Mutation_p.V34A|NCOA4_ENST00000374082.1_Missense_Mutation_p.V34A|NCOA4_ENST00000498586.1_Intron|NCOA4_ENST00000374087.4_Missense_Mutation_p.V34A	p.V50A	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			3	401	+			34					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.149T>C	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.898969	0.91962	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000374087;ENST00000330923;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T	0.30182	1.86;1.83;1.87;1.87;1.54;1.87	5.79	5.79	0.91817	.	0.208574	0.41605	D	0.000847	T	0.45895	0.1365	L	0.32530	0.975	0.80722	D	1	D;D;P	0.69078	0.997;0.997;0.952	D;D;P	0.72625	0.978;0.978;0.53	T	0.44832	-0.9302	10	0.87932	D	0	-11.4031	16.1376	0.81497	0.0:0.0:0.0:1.0	.	50;50;34	B4E260;E9PAV7;Q13772	.;.;NCOA4_HUMAN	A	50;50;34;34;34;34;34	ENSP00000405146:V50A;ENSP00000395465:V50A;ENSP00000363200:V34A;ENSP00000344552:V34A;ENSP00000363195:V34A;ENSP00000390713:V34A	ENSP00000332421:V34A	V	+	2	0	NCOA4	51249248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.135000	0.77276	2.212000	0.71576	0.533000	0.62120	GTT		0.478	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		49	163	0	0	0	1	0	49	163				
SARAF	51669	broad.mit.edu	37	8	29927269	29927269	+	Missense_Mutation	SNP	C	C	T	rs572172068		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:29927269C>T	ENST00000256255.6	-	3	846	c.589G>A	c.(589-591)Ggg>Agg	p.G197R	TMEM66_ENST00000545648.1_Missense_Mutation_p.G25R|TMEM66_ENST00000536273.1_Missense_Mutation_p.G25R	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		197					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GAATACTGCCCGTCACTCAGG	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		17474	0.0		0.0	False		,,,				2504	0.001					ENST00000256255.6																			0				endometrium(2)|large_intestine(1)|lung(11)	14						c.(589-591)Ggg>Agg		transmembrane protein 66							108.0	95.0	100.0					8																	29927269		2203	4300	6503	SO:0001583	missense	51669					integral to membrane		g.chr8:29927269C>T																												ENST00000256255.6:c.589G>A	8.37:g.29927269C>T	ENSP00000256255:p.Gly197Arg					TMEM66_ENST00000536273.1_Missense_Mutation_p.G25R|TMEM66_ENST00000545648.1_Missense_Mutation_p.G25R	p.G197R	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	3	846	-			197					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Missense_Mutation	SNP	ENST00000256255.6	37	c.589G>A	CCDS6074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.41|16.41	3.115197|3.115197	0.56505|0.56505	.|.	.|.	ENSG00000133872|ENSG00000133872	ENST00000256255;ENST00000545648;ENST00000541035;ENST00000536273;ENST00000523127;ENST00000522794|ENST00000518296	T;T;T;T;T|.	0.46451|.	0.87;0.87;0.87;0.87;0.87|.	5.82|5.82	2.69|2.69	0.31865|0.31865	.|.	0.641843|.	0.16454|.	N|.	0.213717|.	T|T	0.44726|0.44726	0.1307|0.1307	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	D;D|.	0.64830|.	0.994;0.994|.	P;P|.	0.58780|.	0.845;0.845|.	T|T	0.31943|0.31943	-0.9925|-0.9925	10|5	0.25106|.	T|.	0.35|.	-6.0831|-6.0831	6.4316|6.4316	0.21801|0.21801	0.0:0.6617:0.1568:0.1815|0.0:0.6617:0.1568:0.1815	.|.	197;197|.	B3KQQ4;Q96BY9|.	.;TMM66_HUMAN|.	R|Q	197;25;161;25;95;161|66	ENSP00000256255:G197R;ENSP00000441351:G25R;ENSP00000441723:G25R;ENSP00000428323:G95R;ENSP00000429630:G161R|.	ENSP00000256255:G197R|.	G|R	-|-	1|2	0|0	TMEM66|TMEM66	30046811|30046811	0.000000|0.000000	0.05858|0.05858	0.385000|0.385000	0.26158|0.26158	0.758000|0.758000	0.43043|0.43043	0.243000|0.243000	0.18106|0.18106	1.469000|1.469000	0.48083|0.48083	0.650000|0.650000	0.86243|0.86243	GGG|CGG		0.502	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			59	99	0	0	0	1	0	59	99				
SUSD5	26032	broad.mit.edu	37	3	33195265	33195265	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:33195265G>A	ENST00000309558.3	-	5	1276	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	287					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGGAGCAGCCGTGATCCTGGT	0.532																																						ENST00000309558.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(859-861)Cgg>Tgg		sushi domain containing 5							46.0	46.0	46.0					3																	33195265		1924	4136	6060	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33195265G>A	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.859C>T	3.37:g.33195265G>A	ENSP00000308727:p.Arg287Trp						p.R287W	NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN			5	1276	-			287						Missense_Mutation	SNP	ENST00000309558.3	37	c.859C>T	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.724168	0.30593	.	.	ENSG00000173705	ENST00000309558	T	0.07327	3.2	6.02	2.85	0.33270	.	0.802843	0.11047	N	0.605423	T	0.08447	0.0210	L	0.36672	1.1	0.09310	N	1	D	0.65815	0.995	B	0.44315	0.446	T	0.28713	-1.0035	10	0.59425	D	0.04	1.5488	6.7472	0.23468	0.0776:0.1287:0.6612:0.1324	.	287	O60279	SUSD5_HUMAN	W	287	ENSP00000308727:R287W	ENSP00000308727:R287W	R	-	1	2	SUSD5	33170269	0.431000	0.25546	0.003000	0.11579	0.003000	0.03518	1.635000	0.37134	0.875000	0.35847	0.655000	0.94253	CGG		0.532	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		23	49	0	0	0	1	0	23	49				
USP36	57602	broad.mit.edu	37	17	76803168	76803168	+	Missense_Mutation	SNP	G	G	A	rs143765903		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:76803168G>A	ENST00000542802.3	-	14	2401	c.1958C>T	c.(1957-1959)aCg>aTg	p.T653M	USP36_ENST00000312010.6_Missense_Mutation_p.T653M|USP36_ENST00000449938.2_Missense_Mutation_p.T353M|USP36_ENST00000588467.1_5'Flank			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	653					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			ACTTGGCGGCGTTTTGGAGTG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		16878	0.001		0.0	False		,,,				2504	0.0					ENST00000312010.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(1957-1959)aCg>aTg		ubiquitin specific peptidase 36		G	MET/THR	4,4402	8.1+/-20.4	0,4,2199	117.0	97.0	104.0		1958	-9.0	0.0	17	dbSNP_134	104	0,8600		0,0,4300	yes	missense	USP36	NM_025090.3	81	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	possibly-damaging	653/1124	76803168	4,13002	2203	4300	6503	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76803168G>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.1958C>T	17.37:g.76803168G>A	ENSP00000441214:p.Thr653Met					USP36_ENST00000449938.2_Missense_Mutation_p.T353M|USP36_ENST00000542802.2_Missense_Mutation_p.T653M	p.T653M	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		14	2282	-			653					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.1958C>T	CCDS32755.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.13	3.310329	0.60414	9.08E-4	0.0	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.17854	3.25;2.25;3.25	5.56	-9.0	0.00747	.	1.058310	0.07189	N	0.855365	T	0.05135	0.0137	N	0.02011	-0.69	0.09310	N	1	B;B	0.13145	0.004;0.007	B;B	0.09377	0.002;0.004	T	0.46527	-0.9185	10	0.48119	T	0.1	-2.5958	8.7087	0.34371	0.6405:0.0:0.2294:0.1301	.	653;653	Q9P275;Q9P275-2	UBP36_HUMAN;.	M	653;353;653	ENSP00000310590:T653M;ENSP00000401119:T353M;ENSP00000441214:T653M	ENSP00000310590:T653M	T	-	2	0	USP36	74314763	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.391000	0.07323	-1.296000	0.02353	-0.736000	0.03550	ACG		0.607	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		23	61	0	0	0	1	0	23	61				
BANK1	55024	broad.mit.edu	37	4	102981475	102981475	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:102981475T>A	ENST00000322953.4	+	12	2351	c.2077T>A	c.(2077-2079)Tct>Act	p.S693T	BANK1_ENST00000444316.2_Missense_Mutation_p.S663T|BANK1_ENST00000428908.1_Missense_Mutation_p.S560T|BANK1_ENST00000504592.1_Missense_Mutation_p.S678T|BANK1_ENST00000508653.1_Missense_Mutation_p.S560T	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	693					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGGGAAAATGTCTATGGATGA	0.453																																						ENST00000504592.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44						c.(2032-2034)Tct>Act		B-cell scaffold protein with ankyrin repeats 1							97.0	102.0	100.0					4																	102981475		2203	4300	6503	SO:0001583	missense	55024				B cell activation			g.chr4:102981475T>A	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.2077T>A	4.37:g.102981475T>A	ENSP00000320509:p.Ser693Thr					BANK1_ENST00000322953.4_Missense_Mutation_p.S693T|BANK1_ENST00000428908.1_Missense_Mutation_p.S560T|BANK1_ENST00000508653.1_Missense_Mutation_p.S560T|BANK1_ENST00000444316.2_Missense_Mutation_p.S663T	p.S678T			Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	16	2450	+		Hepatocellular(203;0.217)	693					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.2032T>A	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	T	19.49	3.837530	0.71373	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.19394	2.85;2.83;2.15;2.15;2.85	5.59	4.37	0.52481	.	0.440049	0.22589	N	0.058114	T	0.31827	0.0809	L	0.40543	1.245	0.23962	N	0.99633	P;D;D	0.71674	0.873;0.998;0.998	P;D;D	0.66084	0.797;0.941;0.941	T	0.06463	-1.0825	10	0.46703	T	0.11	.	8.6928	0.34278	0.1694:0.0:0.0:0.8306	.	560;693;678	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	T	678;693;560;560;663	ENSP00000421443:S678T;ENSP00000320509:S693T;ENSP00000412748:S560T;ENSP00000422314:S560T;ENSP00000388817:S663T	ENSP00000320509:S693T	S	+	1	0	BANK1	103200498	0.997000	0.39634	0.362000	0.25862	0.978000	0.69477	2.488000	0.45276	0.904000	0.36572	0.459000	0.35465	TCT		0.453	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		26	84	0	0	0	1	0	26	84				
SNX20	124460	broad.mit.edu	37	16	50707482	50707482	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:50707482G>A	ENST00000330943.4	-	4	957	c.786C>T	c.(784-786)ggC>ggT	p.G262G	SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570241.2_RNA|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	262					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						AGTAGCGATGGCCCTCCCGGG	0.721																																						ENST00000330943.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						c.(784-786)ggC>ggT		sorting nexin 20							16.0	17.0	17.0					16																	50707482		2179	4271	6450	SO:0001819	synonymous_variant	124460				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50707482G>A	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.786C>T	16.37:g.50707482G>A						SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	p.G262G	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN			4	957	-			262					A8K9D5|Q08E98|Q6P4H2|Q8IV59	Silent	SNP	ENST00000330943.4	37	c.786C>T	CCDS10745.1																																																																																				0.721	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		14	45	0	0	0	1	0	14	45				
ATP2B1	490	broad.mit.edu	37	12	90028906	90028906	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:90028906T>C	ENST00000428670.3	-	4	985	c.529A>G	c.(529-531)Aag>Gag	p.K177E	ATP2B1_ENST00000261173.2_Missense_Mutation_p.K177E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K177E|ATP2B1_ENST00000348959.3_Missense_Mutation_p.K177E			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	177					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TGTTTTTCCTTACTCCAGTCA	0.448																																						ENST00000428670.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(529-531)Aag>Gag		ATPase, Ca++ transporting, plasma membrane 1							133.0	110.0	118.0					12																	90028906		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90028906T>C	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.529A>G	12.37:g.90028906T>C	ENSP00000392043:p.Lys177Glu					ATP2B1_ENST00000348959.3_Missense_Mutation_p.K177E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K177E|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K177E	p.K177E			P20020	AT2B1_HUMAN			4	985	-			177					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.529A>G	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.005789	0.93287	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.95959	0.8684	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.991;0.998	D	0.96973	0.9710	9	.	.	.	-24.4701	16.2322	0.82352	0.0:0.0:0.0:1.0	.	177;177	P20020-3;P20020-2	.;.	E	177	ENSP00000261173:K177E;ENSP00000343599:K177E;ENSP00000352054:K177E;ENSP00000392043:K177E	.	K	-	1	0	ATP2B1	88553037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.288000	0.76882	0.528000	0.53228	AAG		0.448	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		34	137	0	0	0	1	0	34	137				
ECI1	1632	broad.mit.edu	37	16	2290114	2290114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2290114G>A	ENST00000301729.4	-	7	822	c.775C>T	c.(775-777)Cga>Tga	p.R259*	ECI1_ENST00000570258.1_Nonsense_Mutation_p.R200*|RP11-304L19.11_ENST00000565709.1_RNA|ECI1_ENST00000562238.1_Nonsense_Mutation_p.R242*	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	259					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|intramolecular oxidoreductase activity (GO:0016860)			endometrium(1)|large_intestine(2)|lung(6)	9						GTGGCCTTTCGCATCATGGCC	0.557																																						ENST00000301729.4																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(775-777)Cga>Tga		enoyl-CoA delta isomerase 1							56.0	55.0	55.0					16																	2290114		2197	4300	6497	SO:0001587	stop_gained	1632				fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity	g.chr16:2290114G>A		CCDS10464.1, CCDS58410.1	16p13.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000167969	ENSG00000167969	5.3.3.8		2703	protein-coding gene	gene with protein product	"""3,2 trans-enoyl-CoA isomerase"""	600305	"""dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)"", ""dodecenoyl-CoA isomerase"""	DCI		7829074	Standard	NM_001178029		Approved		uc002cpr.3	P42126	OTTHUMG00000128830	ENST00000301729.4:c.775C>T	16.37:g.2290114G>A	ENSP00000301729:p.Arg259*					ECI1_ENST00000562238.1_Nonsense_Mutation_p.R242*|ECI1_ENST00000570258.1_Nonsense_Mutation_p.R200*	p.R259*	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN			7	822	-			259					A8K512|Q13290|Q7Z2L6|Q7Z2L7|Q9BUB8|Q9BW05|Q9UDG6	Nonsense_Mutation	SNP	ENST00000301729.4	37	c.775C>T	CCDS10464.1	.	.	.	.	.	.	.	.	.	.	G	40	8.364285	0.98779	.	.	ENSG00000167969	ENST00000301729	.	.	.	5.2	1.93	0.25924	.	0.058266	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6503	7.7655	0.28978	0.0829:0.0:0.623:0.2941	.	.	.	.	X	259	.	ENSP00000301729:R259X	R	-	1	2	ECI1	2230115	1.000000	0.71417	0.725000	0.30721	0.816000	0.46133	2.423000	0.44705	0.757000	0.33036	0.655000	0.94253	CGA		0.557	ECI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250768.1			17	36	0	0	0	1	0	17	36				
TBC1D16	125058	broad.mit.edu	37	17	77984303	77984303	+	Silent	SNP	G	G	T	rs368593678		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:77984303G>T	ENST00000310924.2	-	3	550	c.435C>A	c.(433-435)gcC>gcA	p.A145A		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	145							Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GAACACTCTGGGCCACCACCA	0.701																																					Ovarian(14;397 562 4850 31922 49378)	ENST00000310924.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28						c.(433-435)gcC>gcA		TBC1 domain family, member 16							22.0	22.0	22.0					17																	77984303		2198	4296	6494	SO:0001819	synonymous_variant	125058					intracellular	Rab GTPase activator activity	g.chr17:77984303G>T	AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.435C>A	17.37:g.77984303G>T							p.A145A	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)		3	550	-	all_neural(118;0.167)		145					B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Silent	SNP	ENST00000310924.2	37	c.435C>A	CCDS11766.1																																																																																				0.701	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437145.1	NM_019020		13	15	1	0	0.00185496	1	0.00187323	13	15				
PCM1	5108	broad.mit.edu	37	8	17814832	17814832	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:17814832T>C	ENST00000519253.1	+	12	1957	c.1706T>C	c.(1705-1707)gTt>gCt	p.V569A	PCM1_ENST00000524226.1_Missense_Mutation_p.V569A|PCM1_ENST00000325083.8_Missense_Mutation_p.V569A			Q15154	PCM1_HUMAN	pericentriolar material 1	569					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GCACAGTGTGTTTCTAATAAT	0.368			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	"""RET, JAK2"""		"""papillary thyroid, CML, MPD"""	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(1705-1707)gTt>gCt		pericentriolar material 1							145.0	138.0	140.0					8																	17814832		1860	4096	5956	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17814832T>C		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1706T>C	8.37:g.17814832T>C	ENSP00000431099:p.Val569Ala					PCM1_ENST00000519253.1_Missense_Mutation_p.V569A|PCM1_ENST00000524226.1_Missense_Mutation_p.V569A	p.V569A	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	12	2145	+			569					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.1706T>C		.	.	.	.	.	.	.	.	.	.	T	10.19	1.280723	0.23392	.	.	ENSG00000078674	ENST00000325083;ENST00000517730;ENST00000519253;ENST00000524226	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	4.99	2.62	0.31277	.	0.599517	0.18035	N	0.153807	T	0.17534	0.0421	N	0.17082	0.46	0.80722	D	1	B;B;B;B	0.23806	0.003;0.091;0.0;0.003	B;B;B;B	0.26770	0.004;0.073;0.002;0.004	T	0.08953	-1.0697	10	0.02654	T	1	-1.9101	7.5385	0.27725	0.0:0.0891:0.5181:0.3928	.	569;608;569;569	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	A	569;608;569;569	ENSP00000327077:V569A;ENSP00000428131:V608A;ENSP00000431099:V569A;ENSP00000430521:V569A	ENSP00000327077:V569A	V	+	2	0	PCM1	17859112	1.000000	0.71417	0.996000	0.52242	0.714000	0.41099	0.909000	0.28558	0.976000	0.38417	0.377000	0.23210	GTT		0.368	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		13	170	0	0	0	1	0	13	170				
TBC1D24	57465	broad.mit.edu	37	16	2547000	2547000	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2547000A>G	ENST00000293970.5	+	2	984	c.851A>G	c.(850-852)aAg>aGg	p.K284R	RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.K284R|TBC1D24_ENST00000567020.1_Missense_Mutation_p.K284R|TBC1D24_ENST00000434757.2_Missense_Mutation_p.K284R	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	284					neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCCCCTGAGAAGCTGCTGGAG	0.607																																						ENST00000567020.1																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						c.(850-852)aAg>aGg		TBC1 domain family, member 24							55.0	62.0	60.0					16																	2547000		2149	4273	6422	SO:0001583	missense	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2547000A>G	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.851A>G	16.37:g.2547000A>G	ENSP00000293970:p.Lys284Arg					TBC1D24_ENST00000434757.2_Missense_Mutation_p.K284R|TBC1D24_ENST00000293970.5_Missense_Mutation_p.K284R|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.K284R	p.K284R	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN			2	991	+			284					A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	ENST00000293970.5	37	c.851A>G	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.485286	0.26598	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.21734	1.99;1.99	5.09	3.97	0.46021	Rab-GAP/TBC domain (1);	0.047406	0.85682	D	0.000000	T	0.19327	0.0464	L	0.52126	1.63	0.47441	D	0.999423	B;B;B	0.20368	0.005;0.026;0.044	B;B;B	0.21360	0.005;0.015;0.034	T	0.03423	-1.1038	10	0.51188	T	0.08	-35.9777	8.1878	0.31350	0.8315:0.0:0.1685:0.0	.	284;284;284	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	R	284	ENSP00000293970:K284R;ENSP00000390106:K284R	ENSP00000293970:K284R	K	+	2	0	TBC1D24	2487001	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	3.633000	0.54295	0.753000	0.32945	0.533000	0.62120	AAG		0.607	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		26	96	0	0	0	1	0	26	96				
ADCY7	113	broad.mit.edu	37	16	50332907	50332907	+	Nonsense_Mutation	SNP	C	C	A	rs142241553		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:50332907C>A	ENST00000394697.2	+	8	1381	c.1041C>A	c.(1039-1041)tgC>tgA	p.C347*	ADCY7_ENST00000254235.3_Nonsense_Mutation_p.C347*|ADCY7_ENST00000538642.1_Nonsense_Mutation_p.C347*|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000566433.2_Nonsense_Mutation_p.C347*|ADCY7_ENST00000537579.1_Nonsense_Mutation_p.C347*			P51828	ADCY7_HUMAN	adenylate cyclase 7	347	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				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 ethanol (GO:0071361)|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)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CCCGGAACTGCGTGAAGATGG	0.657																																						ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(1039-1041)tgC>tgA		adenylate cyclase 7	Bromocriptine(DB01200)						79.0	61.0	67.0					16																	50332907		2198	4300	6498	SO:0001587	stop_gained	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50332907C>A	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1041C>A	16.37:g.50332907C>A	ENSP00000378187:p.Cys347*					ADCY7_ENST00000537579.1_Nonsense_Mutation_p.C347*|ADCY7_ENST00000254235.3_Nonsense_Mutation_p.C347*|ADCY7_ENST00000538642.1_Nonsense_Mutation_p.C347*|ADCY7_ENST00000566433.2_Nonsense_Mutation_p.C347*|ADCY7_ENST00000564044.1_3'UTR	p.C347*			P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	8	1381	+		all_cancers(37;0.0127)	347			Guanylate cyclase 1.		A0AVA6	Nonsense_Mutation	SNP	ENST00000394697.2	37	c.1041C>A	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	C	35	5.525966	0.96431	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	.	.	.	5.6	-2.4	0.06583	.	0.000000	0.48767	U	0.000170	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7693	0.57410	0.0:0.4565:0.0:0.5435	.	.	.	.	X	347	.	ENSP00000254235:C347X	C	+	3	2	ADCY7	48890408	0.216000	0.23585	0.991000	0.47740	0.951000	0.60555	-0.454000	0.06770	-0.418000	0.07450	-1.564000	0.00881	TGC		0.657	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			24	63	1	0	1.75199e-13	1	1.82818e-13	24	63				
ZNF777	27153	broad.mit.edu	37	7	149152363	149152363	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:149152363G>A	ENST00000247930.4	-	2	1074	c.751C>T	c.(751-753)Ctg>Ttg	p.L251L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGCCTCTGCAGCAGCCCATAC	0.567																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(751-753)Ctg>Ttg		zinc finger protein 777							67.0	78.0	74.0					7																	149152363		2203	4300	6503	SO:0001819	synonymous_variant	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149152363G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.751C>T	7.37:g.149152363G>A							p.L251L	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	1074	-	Melanoma(164;0.165)		251					Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	37	c.751C>T	CCDS43675.1																																																																																				0.567	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		17	186	0	0	0	1	0	17	186				
PIK3R2	5296	broad.mit.edu	37	19	18271310	18271310	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:18271310T>C	ENST00000593731.1	+	3	912	c.352T>C	c.(352-354)Ttc>Ctc	p.F118L	PIK3R2_ENST00000222254.8_Missense_Mutation_p.F118L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	118	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	GCCCGAGCAGTTCTCCCCACC	0.612																																						ENST00000593731.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(352-354)Ttc>Ctc		phosphoinositide-3-kinase, regulatory subunit 2 (beta)							103.0	86.0	91.0					19																	18271310		2203	4300	6503	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18271310T>C		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.352T>C	19.37:g.18271310T>C	ENSP00000471914:p.Phe118Leu					PIK3R2_ENST00000222254.7_Missense_Mutation_p.F118L	p.F118L			O00459	P85B_HUMAN			3	912	+			118			Rho-GAP.		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.352T>C	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	T	19.22	3.785471	0.70337	.	.	ENSG00000105647	ENST00000222254	T	0.38401	1.14	4.45	2.18	0.27775	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.110080	0.64402	D	0.000005	T	0.30039	0.0752	M	0.69823	2.125	0.58432	D	0.999993	B	0.33345	0.409	B	0.22753	0.041	T	0.13953	-1.0490	10	0.62326	D	0.03	-20.9745	6.2713	0.20956	0.0:0.0862:0.1597:0.7541	.	118	O00459	P85B_HUMAN	L	118	ENSP00000222254:F118L	ENSP00000222254:F118L	F	+	1	0	PIK3R2	18132310	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	4.367000	0.59498	0.692000	0.31613	0.459000	0.35465	TTC		0.612	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		18	51	0	0	0	1	0	18	51				
GCN1L1	10985	broad.mit.edu	37	12	120582208	120582208	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:120582208G>A	ENST00000300648.6	-	42	5409	c.5397C>T	c.(5395-5397)cgC>cgT	p.R1799R		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1799					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGGCCCGCGCGCAGGGCGG	0.622																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(5395-5397)cgC>cgT		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							45.0	49.0	48.0					12																	120582208		2033	4196	6229	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120582208G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5397C>T	12.37:g.120582208G>A							p.R1799R	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			42	5409	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1799					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.5397C>T	CCDS41847.1																																																																																				0.622	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			24	56	0	0	0	1	0	24	56				
FBXO39	162517	broad.mit.edu	37	17	6683941	6683941	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:6683941C>T	ENST00000321535.4	+	2	884	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	252										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						CAGCACCCTCCGGACCATCAA	0.542																																						ENST00000321535.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						c.(754-756)Cgg>Tgg		F-box protein 39							109.0	94.0	99.0					17																	6683941		2203	4300	6503	SO:0001583	missense	162517							g.chr17:6683941C>T	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.754C>T	17.37:g.6683941C>T	ENSP00000321386:p.Arg252Trp						p.R252W	NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN			2	884	+			252						Missense_Mutation	SNP	ENST00000321535.4	37	c.754C>T	CCDS11082.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410496	0.25465	.	.	ENSG00000177294	ENST00000321535	T	0.55930	0.49	5.02	-6.44	0.01920	.	0.776546	0.11934	N	0.515389	T	0.21962	0.0529	N	0.04880	-0.145	0.22531	N	0.999014	B	0.02656	0.0	B	0.01281	0.0	T	0.07868	-1.0750	10	0.41790	T	0.15	-1.2307	4.4719	0.11717	0.123:0.4871:0.1258:0.2641	.	252	Q8N4B4	FBX39_HUMAN	W	252	ENSP00000321386:R252W	ENSP00000321386:R252W	R	+	1	2	FBXO39	6624665	0.925000	0.31364	0.711000	0.30485	0.698000	0.40448	-0.103000	0.10940	-1.372000	0.02137	-1.144000	0.01866	CGG		0.542	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		32	99	0	0	0	1	0	32	99				
AGBL1	123624	broad.mit.edu	37	15	86697774	86697774	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:86697774C>T	ENST00000441037.2	+	3	333	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	AGBL1_ENST00000421325.2_Missense_Mutation_p.R80C	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	80					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CTGGGCTCTGCGTGTGTTTGC	0.537																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(238-240)Cgt>Tgt		ATP/GTP binding protein-like 1							98.0	100.0	100.0					15																	86697774		2031	4191	6222	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86697774C>T	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.238C>T	15.37:g.86697774C>T	ENSP00000413001:p.Arg80Cys					AGBL1_ENST00000421325.2_Missense_Mutation_p.R80C	p.R80C	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			3	333	+			80					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.238C>T	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299509	0.81136	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T	0.46819	0.86	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.60314	0.2259	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	P	0.54856	0.762	T	0.64322	-0.6435	9	0.87932	D	0	-10.842	15.032	0.71713	0.0:1.0:0.0:0.0	.	80	Q96MI9	CBPC4_HUMAN	C	109;80	ENSP00000397173:R80C	ENSP00000397173:R80C	R	+	1	0	AGBL1	84498778	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.925000	0.40074	2.683000	0.91414	0.650000	0.86243	CGT		0.537	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		8	27	0	0	0	1	0	8	27				
ANK1	286	broad.mit.edu	37	8	41552141	41552141	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:41552141G>A	ENST00000347528.4	-	28	3379	c.3296C>T	c.(3295-3297)gCc>gTc	p.A1099V	ANK1_ENST00000265709.8_Missense_Mutation_p.A1140V|ANK1_ENST00000352337.4_Missense_Mutation_p.A1099V|ANK1_ENST00000396942.1_Missense_Mutation_p.A1099V|ANK1_ENST00000289734.7_Missense_Mutation_p.A1099V|ANK1_ENST00000379758.2_Missense_Mutation_p.A1099V|ANK1_ENST00000396945.1_Missense_Mutation_p.A1099V	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1099	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTTGGTGACGGCATTCTCCGG	0.647																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(3295-3297)gCc>gTc		ankyrin 1, erythrocytic							74.0	68.0	70.0					8																	41552141		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41552141G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.3296C>T	8.37:g.41552141G>A	ENSP00000339620:p.Ala1099Val					ANK1_ENST00000347528.4_Missense_Mutation_p.A1099V|ANK1_ENST00000396945.1_Missense_Mutation_p.A1099V|ANK1_ENST00000352337.4_Missense_Mutation_p.A1099V|ANK1_ENST00000265709.8_Missense_Mutation_p.A1140V|ANK1_ENST00000379758.2_Missense_Mutation_p.A1099V|ANK1_ENST00000289734.7_Missense_Mutation_p.A1099V	p.A1099V			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		28	3379	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1099					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.3296C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653699	0.88056	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.88426	0.6433	M	0.86502	2.82	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.994;0.997;0.999;0.999	D	0.90396	0.4399	10	0.87932	D	0	.	18.7799	0.91928	0.0:0.0:1.0:0.0	.	1140;1099;1099;1099;1099;415	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	V	1099;1099;1099;1099;1099;1099;1140;1099	ENSP00000339620:A1099V;ENSP00000289734:A1099V;ENSP00000369082:A1099V;ENSP00000380149:A1099V;ENSP00000380147:A1099V;ENSP00000309131:A1099V;ENSP00000265709:A1140V	ENSP00000265709:A1140V	A	-	2	0	ANK1	41671298	1.000000	0.71417	0.226000	0.23910	0.528000	0.34623	9.813000	0.99286	2.495000	0.84180	0.462000	0.41574	GCC		0.647	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		11	44	0	0	0	1	0	11	44				
TKT	7086	broad.mit.edu	37	3	53276160	53276160	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:53276160T>C	ENST00000462138.1	-	2	294	c.206A>G	c.(205-207)gAc>gGc	p.D69G	TKT_ENST00000423516.1_Missense_Mutation_p.D69G|TKT_ENST00000296289.6_Missense_Mutation_p.D22G|TKT_ENST00000423525.2_Missense_Mutation_p.D69G			P29401	TKT_HUMAN	transketolase	69					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		CACAAAGCGGTCATTGTGCGG	0.602																																					Colon(133;1506 2347 35238 42177)	ENST00000462138.1																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(205-207)gAc>gGc		transketolase	Thiamine(DB00152)						105.0	102.0	103.0					3																	53276160		2203	4300	6503	SO:0001583	missense	7086				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	g.chr3:53276160T>C		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.206A>G	3.37:g.53276160T>C	ENSP00000417773:p.Asp69Gly					TKT_ENST00000423516.1_Missense_Mutation_p.D69G|TKT_ENST00000296289.6_Missense_Mutation_p.D22G|TKT_ENST00000423525.2_Missense_Mutation_p.D69G	p.D69G			P29401	TKT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	2	294	-		Prostate(884;0.0959)	69					A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	37	c.206A>G	CCDS2871.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.232563	0.58777	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.75	5.75	0.90469	Transketolase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84028	0.5382	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90674	0.4600	10	0.87932	D	0	-9.2226	16.0613	0.80839	0.0:0.0:0.0:1.0	.	69;69	E7EPA7;P29401	.;TKT_HUMAN	G	69;69;69;22	ENSP00000417773:D69G;ENSP00000405455:D69G;ENSP00000391481:D69G;ENSP00000296289:D22G	ENSP00000296289:D22G	D	-	2	0	TKT	53251200	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.040000	0.89188	2.206000	0.71126	0.533000	0.62120	GAC		0.602	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			22	65	0	0	0	1	0	22	65				
SOCS6	9306	broad.mit.edu	37	18	67993103	67993103	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:67993103A>G	ENST00000397942.3	+	2	1515	c.1199A>G	c.(1198-1200)aAc>aGc	p.N400S	SOCS6_ENST00000582322.1_Missense_Mutation_p.N400S	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	400	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				AAGCTAGCAAACGTGCCAGAT	0.468																																					Melanoma(84;1024 1361 24382 36583 42651)	ENST00000397942.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(1198-1200)aAc>aGc		suppressor of cytokine signaling 6							178.0	165.0	169.0					18																	67993103		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67993103A>G	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.1199A>G	18.37:g.67993103A>G	ENSP00000381034:p.Asn400Ser					SOCS6_ENST00000582322.1_Missense_Mutation_p.N400S	p.N400S	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN			2	1515	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	400			SH2.		Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.1199A>G	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.377696	0.24944	.	.	ENSG00000170677	ENST00000397942	D	0.88277	-2.36	5.7	3.37	0.38596	SH2 motif (4);	0.051367	0.85682	D	0.000000	T	0.72455	0.3462	N	0.03050	-0.425	0.58432	D	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.61038	-0.7143	10	0.29301	T	0.29	-19.7588	9.4729	0.38853	0.8587:0.0:0.1413:0.0	.	400	O14544	SOCS6_HUMAN	S	400	ENSP00000381034:N400S	ENSP00000381034:N400S	N	+	2	0	SOCS6	66144083	0.997000	0.39634	0.097000	0.21041	0.886000	0.51366	3.791000	0.55469	0.462000	0.27095	0.459000	0.35465	AAC		0.468	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			5	100	0	0	0	1	0	5	100				
GLO1	2739	broad.mit.edu	37	6	38670782	38670782	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:38670782G>T	ENST00000373365.4	-	1	135	c.49C>A	c.(49-51)Ctc>Atc	p.L17I		NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	17					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	CAGCAACTGAGGGCGGCCTCG	0.697																																						ENST00000373365.4																			0				lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6						c.(49-51)Ctc>Atc		glyoxalase I	Glutathione(DB00143)						14.0	17.0	16.0					6																	38670782		2196	4290	6486	SO:0001583	missense	2739				anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding	g.chr6:38670782G>T	L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"""glyoxalase domain containing 1"""	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.49C>A	6.37:g.38670782G>T	ENSP00000362463:p.Leu17Ile						p.L17I	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN			1	135	-			17					B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Missense_Mutation	SNP	ENST00000373365.4	37	c.49C>A	CCDS4837.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844514	0.32606	.	.	ENSG00000124767	ENST00000373365	T	0.30182	1.54	5.65	-1.33	0.09172	.	0.938101	0.09085	N	0.850763	T	0.04272	0.0118	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41822	-0.9487	10	0.33940	T	0.23	-8.0801	5.3971	0.16275	0.3116:0.2435:0.445:0.0	.	17	Q04760	LGUL_HUMAN	I	17	ENSP00000362463:L17I	ENSP00000362463:L17I	L	-	1	0	GLO1	38778760	0.001000	0.12720	0.026000	0.17262	0.787000	0.44495	-0.681000	0.05191	-0.116000	0.11893	0.655000	0.94253	CTC		0.697	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	NM_006708		12	32	1	0	3.45872e-05	1	3.53152e-05	12	32				
NPR3	4883	broad.mit.edu	37	5	32724858	32724858	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:32724858A>G	ENST00000265074.8	+	2	1167	c.824A>G	c.(823-825)cAc>cGc	p.H275R	NPR3_ENST00000415167.2_Missense_Mutation_p.H275R|NPR3_ENST00000434067.2_Missense_Mutation_p.H59R|NPR3_ENST00000415685.2_Missense_Mutation_p.H59R	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	275					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTGGTGGCGCACAGGCATGGC	0.537																																						ENST00000265074.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(823-825)cAc>cGc		natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	Nesiritide(DB04899)						195.0	200.0	198.0					5																	32724858		2199	4293	6492	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32724858A>G		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.824A>G	5.37:g.32724858A>G	ENSP00000265074:p.His275Arg					NPR3_ENST00000415685.2_Missense_Mutation_p.H59R|NPR3_ENST00000415167.2_Missense_Mutation_p.H275R|NPR3_ENST00000434067.2_Missense_Mutation_p.H59R	p.H275R	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN			2	1167	+			275					A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.824A>G	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	A	19.64	3.864664	0.71949	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.37	5.37	0.77165	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90366	0.6985	M	0.84326	2.69	0.58432	D	0.999992	D;D;D;D	0.71674	0.998;0.997;0.997;0.997	P;P;P;P	0.62885	0.908;0.876;0.876;0.876	D	0.90611	0.4552	10	0.42905	T	0.14	-18.5767	15.039	0.71774	1.0:0.0:0.0:0.0	.	59;59;275;275	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	R	52;59;59;275;275	ENSP00000425325:H52R;ENSP00000388408:H59R;ENSP00000402490:H59R;ENSP00000265074:H275R;ENSP00000398028:H275R	ENSP00000265074:H275R	H	+	2	0	NPR3	32760615	1.000000	0.71417	0.946000	0.38457	0.631000	0.37964	8.143000	0.89621	2.001000	0.58596	0.533000	0.62120	CAC		0.537	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		20	46	0	0	0	1	0	20	46				
PCBP3	54039	broad.mit.edu	37	21	47360108	47360108	+	Silent	SNP	C	C	T	rs375088297	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:47360108C>T	ENST00000400314.1	+	15	1412	c.1074C>T	c.(1072-1074)aaC>aaT	p.N358N	PCBP3_ENST00000400310.1_Silent_p.N338N|PCBP3_ENST00000400309.1_Silent_p.N357N|PCBP3_ENST00000449640.1_Silent_p.N358N|PCBP3_ENST00000400304.1_Silent_p.N348N|PCBP3_ENST00000400308.1_Silent_p.N332N			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	358					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N326N(1)|p.N358N(1)		biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		ATCTCATCAACGCCAGGTGAG	0.627													C|||	5	0.000998403	0.0038	0.0	5008	,	,		17672	0.0		0.0	False		,,,				2504	0.0					ENST00000400314.1																			2	Substitution - coding silent(2)	p.N326N(1)|p.N358N(1)	endometrium(2)	biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(1072-1074)aaC>aaT		poly(rC) binding protein 3		C	,	3,4217		0,3,2107	51.0	57.0	55.0		996,1074	0.5	1.0	21		55	1,8453		0,1,4226	no	coding-synonymous,coding-synonymous	PCBP3	NM_001130141.1,NM_020528.2	,	0,4,6333	TT,TC,CC		0.0118,0.0711,0.0316	,	332/346,358/372	47360108	4,12670	2110	4227	6337	SO:0001819	synonymous_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47360108C>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.1074C>T	21.37:g.47360108C>T						PCBP3_ENST00000400304.1_Silent_p.N348N|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400310.1_Silent_p.N338N|PCBP3_ENST00000400309.1_Silent_p.N357N|PCBP3_ENST00000449640.1_Silent_p.N358N|PCBP3_ENST00000400308.1_Silent_p.N332N	p.N358N			P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	15	1412	+	all_hematologic(128;0.24)		358					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	c.1074C>T	CCDS42974.2																																																																																				0.627	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			15	48	0	0	0	1	0	15	48				
HAO2	51179	broad.mit.edu	37	1	119925634	119925634	+	Silent	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:119925634A>T	ENST00000325945.3	+	3	301	c.228A>T	c.(226-228)gcA>gcT	p.A76A	HAO2_ENST00000361035.4_Silent_p.A89A	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	76	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TTTGTATCGCACCCACAGGGT	0.567																																						ENST00000361035.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(265-267)gcA>gcT		hydroxyacid oxidase 2 (long chain)							117.0	87.0	97.0					1																	119925634		2203	4300	6503	SO:0001819	synonymous_variant	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119925634A>T	AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.228A>T	1.37:g.119925634A>T						HAO2_ENST00000325945.3_Silent_p.A76A	p.A89A	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	4	550	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	76			FMN hydroxy acid dehydrogenase.		Q2TU86|Q5QP00|Q9UJS6	Silent	SNP	ENST00000325945.3	37	c.267A>T	CCDS901.1																																																																																				0.567	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		9	21	0	0	0	1	0	9	21				
BICD2	23299	broad.mit.edu	37	9	95527004	95527004	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:95527004T>A	ENST00000375512.3	-	1	90	c.23A>T	c.(22-24)gAg>gTg	p.E8V	BICD2_ENST00000356884.6_Missense_Mutation_p.E8V	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	8					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CGCGTACTCCTCCTCCTCCGA	0.741																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(22-24)gAg>gTg		bicaudal D homolog 2 (Drosophila)							8.0	9.0	9.0					9																	95527004		2153	4249	6402	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95527004T>A	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.23A>T	9.37:g.95527004T>A	ENSP00000364662:p.Glu8Val					BICD2_ENST00000375512.3_Missense_Mutation_p.E8V	p.E8V	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			1	90	-			8					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.23A>T	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	.	17.11	3.305183	0.60305	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.46819	0.86;0.87	4.35	4.35	0.52113	.	0.320792	0.29791	N	0.011186	T	0.35189	0.0923	L	0.38175	1.15	0.38539	D	0.949162	P;B	0.36535	0.557;0.421	B;B	0.31191	0.125;0.059	T	0.42258	-0.9462	10	0.52906	T	0.07	-27.7874	12.1025	0.53792	0.0:0.0:0.0:1.0	.	8;8	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	V	8	ENSP00000349351:E8V;ENSP00000364662:E8V	ENSP00000349351:E8V	E	-	2	0	BICD2	94566825	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.179000	0.65043	1.903000	0.55091	0.164000	0.16699	GAG		0.741	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		4	15	0	0	0	1	0	4	15				
NSMCE1	197370	broad.mit.edu	37	16	27238046	27238046	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:27238046T>C	ENST00000361439.4	-	6	694	c.595A>G	c.(595-597)Atc>Gtc	p.I199V	NSMCE1_ENST00000565384.1_5'UTR	NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	199					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)	7						GGTACCTGGATGAGGAGGCTG	0.642																																						ENST00000361439.4																			0				endometrium(2)|large_intestine(2)|lung(3)	7						c.(595-597)Atc>Gtc		non-SMC element 1 homolog (S. cerevisiae)							84.0	93.0	90.0					16																	27238046		2037	4167	6204	SO:0001583	missense	197370				DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding	g.chr16:27238046T>C	AF161451	CCDS10628.2	16p12.1	2010-03-23	2006-07-05		ENSG00000169189	ENSG00000169189			29897	protein-coding gene	gene with protein product						11927594	Standard	XM_005255163		Approved	NSE1	uc002doi.1	Q8WV22	OTTHUMG00000131674	ENST00000361439.4:c.595A>G	16.37:g.27238046T>C	ENSP00000355077:p.Ile199Val					NSMCE1_ENST00000565384.1_5'UTR	p.I199V	NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN			6	694	-			199					D3DWF6|Q9P045|Q9P049	Missense_Mutation	SNP	ENST00000361439.4	37	c.595A>G	CCDS10628.2	.	.	.	.	.	.	.	.	.	.	T	16.45	3.127492	0.56721	.	.	ENSG00000169189	ENST00000361439	D	0.81659	-1.52	5.42	5.42	0.78866	Zinc finger, RING-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, RING-like (1);	0.100953	0.64402	D	0.000002	D	0.84611	0.5510	L	0.60455	1.87	0.43868	D	0.996478	D	0.58268	0.982	P	0.57960	0.83	T	0.82896	-0.0230	10	0.28530	T	0.3	.	14.2874	0.66254	0.0:0.0:0.0:1.0	.	199	Q8WV22	NSE1_HUMAN	V	199	ENSP00000355077:I199V	ENSP00000355077:I199V	I	-	1	0	NSMCE1	27145547	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.437000	0.59955	2.046000	0.60703	0.459000	0.35465	ATC		0.642	NSMCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254577.3	NM_145080		21	50	0	0	0	1	0	21	50				
FNDC1	84624	broad.mit.edu	37	6	159636044	159636044	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:159636044G>A	ENST00000297267.9	+	5	728	c.528G>A	c.(526-528)gcG>gcA	p.A176A	FNDC1_ENST00000340366.6_Silent_p.A176A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	176	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGTCCGTTGCGTGGAAGGCAC	0.562																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(526-528)gcG>gcA		fibronectin type III domain containing 1							68.0	71.0	70.0					6																	159636044		2036	4180	6216	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159636044G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.528G>A	6.37:g.159636044G>A						FNDC1_ENST00000340366.6_Silent_p.A176A	p.A176A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	5	728	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	176			Fibronectin type-III 2.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.528G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574007	0.28092	.	.	ENSG00000164694	ENST00000329629	.	.	.	6.17	0.0857	0.14443	.	.	.	.	.	T	0.44286	0.1286	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41520	-0.9504	4	.	.	.	-13.7341	10.6576	0.45684	0.3563:0.0:0.6437:0.0	.	.	.	.	M	135	.	.	V	+	1	0	FNDC1	159556032	0.997000	0.39634	0.993000	0.49108	0.973000	0.67179	0.218000	0.17622	-0.062000	0.13088	-0.940000	0.02684	GTG		0.562	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		15	66	0	0	0	1	0	15	66				
HCN2	610	broad.mit.edu	37	19	615973	615973	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:615973C>T	ENST00000251287.2	+	8	2222	c.2169C>T	c.(2167-2169)gtC>gtT	p.V723V	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	723	Pro-rich.				cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		cgccgcAGGTCACCTCGGCCA	0.751																																					Melanoma(145;1175 2427 8056 36306)	ENST00000251287.2																			0				endometrium(5)|lung(4)	9						c.(2167-2169)gtC>gtT		hyperpolarization activated cyclic nucleotide-gated potassium channel 2							5.0	7.0	6.0					19																	615973		1727	3497	5224	SO:0001819	synonymous_variant	610				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr19:615973C>T	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.2169C>T	19.37:g.615973C>T						AC005559.2_ENST00000591847.1_RNA	p.V723V	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	2222	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	723			Pro-rich.		O60742|O60743|O75267|Q9UBS2	Silent	SNP	ENST00000251287.2	37	c.2169C>T	CCDS12035.1																																																																																				0.751	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		9	11	0	0	0	1	0	9	11				
LINGO1	84894	broad.mit.edu	37	15	77907860	77907860	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:77907860C>T	ENST00000355300.6	-	2	563	c.389G>A	c.(388-390)cGc>cAc	p.R130H	LINGO1_ENST00000561030.1_Missense_Mutation_p.R124H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	130					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GAGCTTCAGGCGGTTGCTGCG	0.582																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(388-390)cGc>cAc		leucine rich repeat and Ig domain containing 1							63.0	68.0	66.0					15																	77907860		2100	4217	6317	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907860C>T	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.389G>A	15.37:g.77907860C>T	ENSP00000347451:p.Arg130His					LINGO1_ENST00000561030.1_Missense_Mutation_p.R124H	p.R130H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	563	-			130					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.389G>A	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750652	0.49257	.	.	ENSG00000169783	ENST00000355300	T	0.60171	0.21	5.63	5.63	0.86233	.	0.054652	0.64402	D	0.000001	T	0.45975	0.1369	N	0.20445	0.575	0.58432	D	0.999996	B	0.27068	0.167	B	0.18561	0.022	T	0.37150	-0.9718	10	0.48119	T	0.1	.	19.6704	0.95910	0.0:1.0:0.0:0.0	.	130	Q96FE5	LIGO1_HUMAN	H	130	ENSP00000347451:R130H	ENSP00000347451:R130H	R	-	2	0	LINGO1	75694915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.665000	0.68052	2.659000	0.90383	0.561000	0.74099	CGC		0.582	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		17	31	0	0	0	1	0	17	31				
LZTS3	9762	broad.mit.edu	37	20	3146964	3146964	+	Missense_Mutation	SNP	C	C	T	rs199520706		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:3146964C>T	ENST00000329152.3	-	2	1899	c.502G>A	c.(502-504)Gta>Ata	p.V168I	LZTS3_ENST00000360342.3_Missense_Mutation_p.V168I|LZTS3_ENST00000337576.5_Missense_Mutation_p.V168I			O60299	LZTS3_HUMAN		168						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											TTCTTGGGTACGACAGGCTTG	0.627																																						ENST00000329152.3																			0											c.(502-504)Gta>Ata				C	ILE/VAL	0,4406		0,0,2203	43.0	48.0	46.0		502	5.7	1.0	20		46	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ProSAPiP1	NM_014731.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	168/674	3146964	1,13005	2203	4300	6503	SO:0001583	missense	9762							g.chr20:3146964C>T																												ENST00000329152.3:c.502G>A	20.37:g.3146964C>T	ENSP00000332123:p.Val168Ile					LZTS3_ENST00000360342.3_Missense_Mutation_p.V168I|LZTS3_ENST00000337576.5_Missense_Mutation_p.V168I	p.V168I	NM_014731.2	NP_055546.1					2	1899	-								A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	c.502G>A	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705991	0.68615	0.0	1.16E-4	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.37058	1.29;1.22;1.22	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.51907	0.1702	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.64321	0.924;0.841	T	0.34004	-0.9846	10	0.33141	T	0.24	-8.9224	19.7629	0.96329	0.0:1.0:0.0:0.0	.	168;168	O60299-2;O60299	.;PRIP1_HUMAN	I	168	ENSP00000332123:V168I;ENSP00000353496:V168I;ENSP00000338166:V168I	ENSP00000332123:V168I	V	-	1	0	RP5-1187M17.10	3094964	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.796000	0.62496	2.666000	0.90696	0.561000	0.74099	GTA		0.627	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			11	43	0	0	0	1	0	11	43				
N4BP2L2	10443	broad.mit.edu	37	13	33017615	33017615	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:33017615T>C	ENST00000504114.1	-	6	1105	c.1014A>G	c.(1012-1014)gaA>gaG	p.E338E	N4BP2L2_ENST00000357505.6_Silent_p.E338E|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Silent_p.E353E			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TATACACTTGTTCCTCTCTTA	0.358																																						ENST00000357505.6																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(1012-1014)gaA>gaG		NEDD4 binding protein 2-like 2							35.0	34.0	34.0					13																	33017615		1830	4076	5906	SO:0001819	synonymous_variant	10443							g.chr13:33017615T>C	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.1014A>G	13.37:g.33017615T>C						N4BP2L2_ENST00000504114.1_Silent_p.E338E|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Silent_p.E353E	p.E338E	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	1118	-		Lung SC(185;0.0262)	0					A3KME8	Silent	SNP	ENST00000504114.1	37	c.1014A>G																																																																																					0.358	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		4	22	0	0	0	1	0	4	22				
OR6C2	341416	broad.mit.edu	37	12	55846907	55846907	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:55846907A>G	ENST00000322678.1	+	1	910	c.910A>G	c.(910-912)Aag>Gag	p.K304E	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	304					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TGACTCTATAAAGAGGATTGC	0.393																																						ENST00000322678.1																			0				kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						c.(910-912)Aag>Gag		olfactory receptor, family 6, subfamily C, member 2							67.0	65.0	66.0					12																	55846907		2203	4300	6503	SO:0001583	missense	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846907A>G	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.910A>G	12.37:g.55846907A>G	ENSP00000323606:p.Lys304Glu					RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	p.K304E	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN			1	910	+			304						Missense_Mutation	SNP	ENST00000322678.1	37	c.910A>G	CCDS31824.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.258244	0.39896	.	.	ENSG00000179695	ENST00000322678	T	0.38722	1.12	5.85	2.16	0.27623	.	0.653723	0.14787	N	0.298470	T	0.33118	0.0852	N	0.26092	0.79	0.09310	N	1	B	0.31769	0.339	B	0.39771	0.309	T	0.32079	-0.9920	10	0.72032	D	0.01	.	6.8632	0.24077	0.7377:0.1274:0.1349:0.0	.	304	Q9NZP2	OR6C2_HUMAN	E	304	ENSP00000323606:K304E	ENSP00000323606:K304E	K	+	1	0	OR6C2	54133174	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.499000	0.22546	0.121000	0.18284	-0.385000	0.06624	AAG		0.393	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		11	53	0	0	0	1	0	11	53				
ABCD1	215	broad.mit.edu	37	X	153001628	153001628	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:153001628A>G	ENST00000218104.3	+	3	1543	c.1144A>G	c.(1144-1146)Aca>Gca	p.T382A	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	382	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGCGAGCGCACAGAAGCCTT	0.627																																						ENST00000218104.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(1144-1146)Aca>Gca		ATP-binding cassette, sub-family D (ALD), member 1							117.0	107.0	111.0					X																	153001628		2203	4300	6503	SO:0001583	missense	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:153001628A>G	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1144A>G	X.37:g.153001628A>G	ENSP00000218104:p.Thr382Ala					U52111.14_ENST00000434284.1_RNA	p.T382A	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN			3	1543	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		382			ABC transmembrane type-1.		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	c.1144A>G	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	A	19.41	3.822617	0.71028	.	.	ENSG00000101986	ENST00000218104	D	0.96365	-3.99	4.85	4.85	0.62838	.	0.071753	0.56097	D	0.000038	D	0.93566	0.7946	L	0.50333	1.59	0.80722	D	1	B	0.27679	0.185	B	0.32342	0.144	D	0.90634	0.4569	10	0.38643	T	0.18	-12.4493	7.6697	0.28451	0.9007:0.0:0.0993:0.0	.	382	P33897	ABCD1_HUMAN	A	382	ENSP00000218104:T382A	ENSP00000218104:T382A	T	+	1	0	ABCD1	152654822	1.000000	0.71417	0.984000	0.44739	0.899000	0.52679	6.744000	0.74854	1.704000	0.51252	0.425000	0.28330	ACA		0.627	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		47	43	0	0	0	1	0	47	43				
TGM6	343641	broad.mit.edu	37	20	2376055	2376055	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:2376055G>A	ENST00000202625.2	+	3	458	c.397G>A	c.(397-399)Gtt>Att	p.V133I	TGM6_ENST00000381423.1_Missense_Mutation_p.V133I|TGM6_ENST00000477505.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	133					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GGGCGAGTTTGTTCTCCTTTT	0.567																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(397-399)Gtt>Att		transglutaminase 6	L-Glutamine(DB00130)						98.0	103.0	101.0					20																	2376055		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2376055G>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.397G>A	20.37:g.2376055G>A	ENSP00000202625:p.Val133Ile					TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Missense_Mutation_p.V133I	p.V133I	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			3	458	+			133					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.397G>A	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	1.973	-0.436079	0.04636	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.91631	-2.88;-2.88	4.33	-0.71	0.11234	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.213209	0.38959	N	0.001502	T	0.77025	0.4070	N	0.11427	0.14	0.23192	N	0.998145	B;B	0.02656	0.0;0.0	B;B	0.12156	0.007;0.002	T	0.63523	-0.6618	10	0.02654	T	1	-0.7126	8.1058	0.30885	0.4469:0.0:0.5531:0.0	.	133;133	O95932-2;O95932	.;TGM3L_HUMAN	I	133	ENSP00000202625:V133I;ENSP00000370831:V133I	ENSP00000202625:V133I	V	+	1	0	TGM6	2324055	0.098000	0.21812	0.926000	0.36857	0.875000	0.50365	-0.002000	0.12924	-0.286000	0.09076	-0.137000	0.14449	GTT		0.567	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		49	142	0	0	0	1	0	49	142				
SNURF	8926	broad.mit.edu	37	15	25227119	25227119	+	3'UTR	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:25227119T>A	ENST00000551312.2	+	0	719				SNHG14_ENST00000459433.1_RNA|SNHG14_ENST00000551361.1_RNA|SNHG14_ENST00000551631.2_RNA			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame							nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		GAAATAAGCATATATTGCAGA	0.363																																						ENST00000551631.2																			0																				394.0	380.0	384.0					15																	25227119		876	1991	2867	SO:0001624	3_prime_UTR_variant	104472715							g.chr15:25227119T>A		CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000551312.2:c.*488T>A	15.37:g.25227119T>A								NR_001293.1						0	422	+								A6NCW2	RNA	SNP	ENST00000551312.2	37		CCDS10016.1																																																																																				0.363	SNURF-002	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000413842.1	NM_005678		7	292	0	0	0	1	0	7	292				
ITGA4	3676	broad.mit.edu	37	2	182347240	182347240	+	Splice_Site	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:182347240G>A	ENST00000397033.2	+	9	1333		c.e9-1			NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TTTTGGGACAGCTTGGATCGT	0.473																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.e9-1		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						257.0	256.0	257.0					2																	182347240		1982	4171	6153	SO:0001630	splice_region_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182347240G>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.904-1G>A	2.37:g.182347240G>A								NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		9	1333	+								D3DPG4|Q7Z4L6	Splice_Site	SNP	ENST00000397033.2	37		CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435373	0.83885	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0684	0.97708	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGA4	182055485	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	9.624000	0.98398	2.734000	0.93682	0.650000	0.86243	.		0.473	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		Intron	6	311	0	0	0	1	0	6	311				
POTEA	340441	broad.mit.edu	37	8	43157136	43157136	+	RNA	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:43157136T>C	ENST00000522175.2	+	0	697				RNU6-104P_ENST00000459597.1_RNA			Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATACTTGCTGTACGTTGTGGA	0.318																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A							90.0	98.0	95.0					8																	43157136		2149	4279	6428			340441							g.chr8:43157136T>C	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43157136T>C										Q6S8J7	POTEA_HUMAN			0	697	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.318	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		13	81	0	0	0	1	0	13	81				
PHF20	51230	broad.mit.edu	37	20	34515747	34515747	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:34515747C>T	ENST00000374012.3	+	14	2179	c.2050C>T	c.(2050-2052)Ctg>Ttg	p.L684L	RNU6-937P_ENST00000384325.1_RNA|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	684					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CATGGGATTACTGGAAGAAAA	0.438																																						ENST00000374012.3																			0				breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2050-2052)Ctg>Ttg		PHD finger protein 20							154.0	150.0	152.0					20																	34515747		2203	4300	6503	SO:0001819	synonymous_variant	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34515747C>T	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2050C>T	20.37:g.34515747C>T						PHF20_ENST00000439301.1_3'UTR	p.L684L			Q9BVI0	PHF20_HUMAN			14	2179	+	Breast(12;0.00631)|all_lung(11;0.0145)		684					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Silent	SNP	ENST00000374012.3	37	c.2050C>T	CCDS13268.1																																																																																				0.438	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		5	191	0	0	0	1	0	5	191				
MTPAP	55149	broad.mit.edu	37	10	30602795	30602795	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:30602795A>T	ENST00000263063.4	-	9	1535	c.1492T>A	c.(1492-1494)Ttt>Att	p.F498I	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.F628I	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	498					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AAATCTACAAATTTTTGCAGC	0.418																																						ENST00000358107.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1882-1884)Ttt>Att		mitochondrial poly(A) polymerase							84.0	85.0	85.0					10																	30602795		2203	4300	6503	SO:0001583	missense	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30602795A>T	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1492T>A	10.37:g.30602795A>T	ENSP00000263063:p.Phe498Ile					MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Missense_Mutation_p.F498I	p.F628I			Q9NVV4	PAPD1_HUMAN			10	1881	-			498					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	ENST00000263063.4	37	c.1882T>A	CCDS7165.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.920884	0.92249	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.45668	0.89;0.89	5.76	4.64	0.57946	.	0.121926	0.64402	D	0.000012	T	0.53142	0.1778	M	0.71206	2.165	0.51233	D	0.999914	D;P	0.57899	0.981;0.76	P;P	0.59948	0.866;0.573	T	0.55982	-0.8054	10	0.07175	T	0.84	-25.396	11.4747	0.50291	0.9302:0.0:0.0698:0.0	.	628;498	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	I	628;498	ENSP00000350820:F628I;ENSP00000263063:F498I	ENSP00000263063:F498I	F	-	1	0	MTPAP	30642801	1.000000	0.71417	0.596000	0.28811	0.995000	0.86356	9.136000	0.94489	1.026000	0.39733	0.533000	0.62120	TTT		0.418	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047426.2	NM_018109		29	80	0	0	0	1	0	29	80				
EPG5	57724	broad.mit.edu	37	18	43534459	43534459	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:43534459T>C	ENST00000282041.5	-	2	943	c.909A>G	c.(907-909)caA>caG	p.Q303Q		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	303					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCAGCAGCAGTTGCTTCCTAC	0.418																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(907-909)caA>caG		ectopic P-granules autophagy protein 5 homolog (C. elegans)							109.0	106.0	107.0					18																	43534459		1932	4149	6081	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43534459T>C	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.909A>G	18.37:g.43534459T>C							p.Q303Q	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			2	943	-			303					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.909A>G	CCDS11926.2																																																																																				0.418	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		6	163	0	0	0	1	0	6	163				
PRPF8	10594	broad.mit.edu	37	17	1580919	1580919	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:1580919G>A	ENST00000572621.1	-	13	2189	c.1924C>T	c.(1924-1926)Cgt>Tgt	p.R642C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R642C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	642					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GTAATGCCACGCATGAAAAAG	0.532																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(1924-1926)Cgt>Tgt		pre-mRNA processing factor 8							90.0	90.0	90.0					17																	1580919		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1580919G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1924C>T	17.37:g.1580919G>A	ENSP00000460348:p.Arg642Cys					PRPF8_ENST00000304992.6_Missense_Mutation_p.R642C	p.R642C			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	13	2189	-			642					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.1924C>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485077	0.84854	.	.	ENSG00000174231	ENST00000304992	D	0.85411	-1.98	5.94	4.95	0.65309	PROCN (1);	0.000000	0.85682	D	0.000000	D	0.94489	0.8226	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95816	0.8845	10	0.87932	D	0	.	14.3251	0.66515	0.0:0.0:0.6777:0.3223	.	642	Q6P2Q9	PRP8_HUMAN	C	642	ENSP00000304350:R642C	ENSP00000304350:R642C	R	-	1	0	PRPF8	1527669	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.109000	0.50345	1.475000	0.48197	0.563000	0.77884	CGT		0.532	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			60	104	0	0	0	1	0	60	104				
DLGAP3	58512	broad.mit.edu	37	1	35351777	35351777	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:35351777C>T	ENST00000373347.1	-	6	1764	c.1496G>A	c.(1495-1497)cGg>cAg	p.R499Q	DLGAP3_ENST00000235180.4_Missense_Mutation_p.R499Q			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	499					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCTGTGGCTCCGCATGCGGAA	0.697																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(1495-1497)cGg>cAg		discs, large (Drosophila) homolog-associated protein 3							17.0	21.0	20.0					1																	35351777		2199	4297	6496	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35351777C>T	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1496G>A	1.37:g.35351777C>T	ENSP00000362444:p.Arg499Gln					DLGAP3_ENST00000235180.4_Missense_Mutation_p.R499Q	p.R499Q			O95886	DLGP3_HUMAN			6	1764	-		Myeloproliferative disorder(586;0.0393)	499					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.1496G>A	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	C	37	5.989369	0.97179	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	D;D	0.90324	-2.65;-2.65	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.95652	0.8586	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.96052	0.9032	10	0.87932	D	0	-17.1981	18.6083	0.91275	0.0:1.0:0.0:0.0	.	499	O95886	DLGP3_HUMAN	Q	499	ENSP00000362444:R499Q;ENSP00000235180:R499Q	ENSP00000235180:R499Q	R	-	2	0	DLGAP3	35124364	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.625000	0.88918	0.555000	0.69702	CGG		0.697	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		10	19	0	0	0	1	0	10	19				
SNRNP200	23020	broad.mit.edu	37	2	96956475	96956475	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:96956475A>G	ENST00000323853.5	-	19	2577	c.2500T>C	c.(2500-2502)Tac>Cac	p.Y834H	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	834	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCTGGACTGTACACCTGGGTG	0.488																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(2500-2502)Tac>Cac		small nuclear ribonucleoprotein 200kDa (U5)							141.0	136.0	138.0					2																	96956475		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96956475A>G	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2500T>C	2.37:g.96956475A>G	ENSP00000317123:p.Tyr834His					SNRNP200_ENST00000349783.5_Intron	p.Y834H	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			19	2577	-			834			Helicase C-terminal 1.		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.2500T>C	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.501225	0.85176	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	D	0.92048	-2.96	5.62	5.62	0.85841	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96469	0.9347	10	0.87932	D	0	-13.889	14.8047	0.69945	1.0:0.0:0.0:0.0	.	834	O75643	U520_HUMAN	H	834;509	ENSP00000317123:Y834H	ENSP00000317123:Y834H	Y	-	1	0	SNRNP200	96320202	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.247000	0.95444	2.139000	0.66308	0.533000	0.62120	TAC		0.488	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		22	189	0	0	0	1	0	22	189				
PRKDC	5591	broad.mit.edu	37	8	48815311	48815311	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:48815311A>G	ENST00000314191.2	-	27	3143	c.3087T>C	c.(3085-3087)tgT>tgC	p.C1029C	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.C1029C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1029					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)	TACACCGACCACAAAAATCTC	0.393								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.(3085-3087)tgT>tgC	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							111.0	103.0	105.0					8																	48815311		1869	4091	5960	SO:0001819	synonymous_variant	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.chr8:48815311A>G		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.3087T>C	8.37:g.48815311A>G						PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.C1029C	p.C1029C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			27	3143	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1029					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.3087T>C																																																																																					0.393	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		5	69	0	0	0	1	0	5	69				
GABRR3	200959	broad.mit.edu	37	3	97705720	97705720	+	RNA	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:97705720T>C	ENST00000472788.1	-	0	1212					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CATGAAGTCTTCTGAGTTTAG	0.433																																						ENST00000472788.1																			0				large_intestine(2)|lung(1)	3								gamma-aminobutyric acid (GABA) A receptor, rho 3							67.0	61.0	63.0					3																	97705720		1888	4107	5995			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97705720T>C	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97705720T>C								NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN			0	1212	-								Q9UIV9	RNA	SNP	ENST00000472788.1	37																																																																																						0.433	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			6	8	0	0	0	1	0	6	8				
SEMA5A	9037	broad.mit.edu	37	5	9044645	9044645	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:9044645C>T	ENST00000382496.5	-	22	3610	c.2945G>A	c.(2944-2946)gGc>gAc	p.G982D	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	982					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GAGGAGGCAGCCGAGGATGGA	0.557																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(2944-2946)gGc>gAc		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							115.0	103.0	107.0					5																	9044645		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9044645C>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2945G>A	5.37:g.9044645C>T	ENSP00000371936:p.Gly982Asp					CTD-2215L10.1_ENST00000506519.1_RNA	p.G982D	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			22	3610	-			982					D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2945G>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843755	0.91197	.	.	ENSG00000112902	ENST00000382496	T	0.38401	1.14	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.41373	0.1156	N	0.14661	0.345	0.80722	D	1	D	0.62365	0.991	P	0.61477	0.889	T	0.46414	-0.9193	10	0.72032	D	0.01	.	16.4313	0.83844	0.0:1.0:0.0:0.0	.	982	Q13591	SEM5A_HUMAN	D	982	ENSP00000371936:G982D	ENSP00000371936:G982D	G	-	2	0	SEMA5A	9097645	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.450000	0.80656	2.483000	0.83821	0.655000	0.94253	GGC		0.557	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			34	90	0	0	0	1	0	34	90				
TRDC	28526	broad.mit.edu	37	14	22933207	22933207	+	RNA	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:22933207A>G	ENST00000390477.2	+	0	357				AE000661.37_ENST00000556777.1_RNA|AE000661.37_ENST00000514473.2_RNA			B7Z8K6	TRDC_HUMAN	T cell receptor delta constant							integral component of membrane (GO:0016021)											CATAGTTCATACCGAGAAGGT	0.453																																						ENST00000514473.2																			0																				68.0	67.0	68.0					14																	22933207		1884	4121	6005			0							g.chr14:22933207A>G	M22148		14q11.2	2012-02-07			ENSG00000211829	ENSG00000211829		"""T cell receptors / TRD locus"""	12253	other	T cell receptor gene		186810					Standard	NG_001332		Approved			B7Z8K6	OTTHUMG00000170905		14.37:g.22933207A>G						AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA								0	225	-									RNA	SNP	ENST00000390477.2	37																																																																																						0.453	TRDC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000410936.1	NG_001332		3	33	0	0	0	1	0	3	33				
CELSR1	9620	broad.mit.edu	37	22	46787171	46787171	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:46787171G>A	ENST00000262738.3	-	16	6161	c.6162C>T	c.(6160-6162)ggC>ggT	p.G2054G		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2054					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTTTGGGACAGCCATTGTAGA	0.612											OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(6160-6162)ggC>ggT		cadherin, EGF LAG seven-pass G-type receptor 1							49.0	47.0	48.0					22																	46787171		2203	4300	6503	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46787171G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6162C>T	22.37:g.46787171G>A			OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	941		p.G2054G	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	16	6161	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2054					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.6162C>T	CCDS14076.1																																																																																				0.612	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		15	39	0	0	0	1	0	15	39				
IGSF11	152404	broad.mit.edu	37	3	118621703	118621703	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:118621703T>C	ENST00000393775.2	-	7	1265	c.960A>G	c.(958-960)cgA>cgG	p.R320R	IGSF11_ENST00000489689.1_Silent_p.R296R|IGSF11_ENST00000441144.2_Silent_p.R295R|IGSF11_ENST00000354673.2_Silent_p.R319R|IGSF11_ENST00000425327.2_Silent_p.R319R|IGSF11_ENST00000491903.1_Silent_p.R292R	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	320					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCTCCAGTATCGACTGTTGT	0.453																																						ENST00000354673.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(955-957)cgA>cgG		immunoglobulin superfamily, member 11							137.0	142.0	141.0					3																	118621703		2203	4300	6503	SO:0001819	synonymous_variant	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118621703T>C	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.960A>G	3.37:g.118621703T>C						IGSF11_ENST00000441144.2_Silent_p.R295R|IGSF11_ENST00000491903.1_Silent_p.R292R|IGSF11_ENST00000393775.2_Silent_p.R320R|IGSF11_ENST00000425327.2_Silent_p.R319R|IGSF11_ENST00000489689.1_Silent_p.R296R	p.R319R	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN			9	1337	-			320					C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Silent	SNP	ENST00000393775.2	37	c.957A>G	CCDS46891.1																																																																																				0.453	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			4	155	0	0	0	1	0	4	155				
KIAA0753	9851	broad.mit.edu	37	17	6524291	6524291	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:6524291G>T	ENST00000361413.3	-	7	1490	c.1132C>A	c.(1132-1134)Ctg>Atg	p.L378M	KIAA0753_ENST00000542606.1_Missense_Mutation_p.L79M|KIAA0753_ENST00000572370.1_Missense_Mutation_p.L79M|KIAA0753_ENST00000589033.1_5'Flank	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	378						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTTGGTGACAGTTTCTTTTCC	0.373																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(1132-1134)Ctg>Atg		KIAA0753							77.0	73.0	75.0					17																	6524291		1816	4081	5897	SO:0001583	missense	9851					centrosome		g.chr17:6524291G>T		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1132C>A	17.37:g.6524291G>T	ENSP00000355250:p.Leu378Met					KIAA0753_ENST00000542606.1_Missense_Mutation_p.L79M|KIAA0753_ENST00000572370.1_Missense_Mutation_p.L79M	p.L378M	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	7	1490	-			378					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.1132C>A	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762832	0.49574	.	.	ENSG00000198920	ENST00000361413;ENST00000542606	D;D	0.86097	-2.07;-2.07	4.92	-2.02	0.07388	.	0.834405	0.10821	N	0.630533	T	0.78723	0.4328	M	0.73962	2.25	0.30728	N	0.747561	P	0.35348	0.496	B	0.34242	0.178	T	0.70296	-0.4911	10	0.40728	T	0.16	-6.0575	0.8618	0.01194	0.3899:0.16:0.2866:0.1635	.	378	Q2KHM9	K0753_HUMAN	M	378;79	ENSP00000355250:L378M;ENSP00000444634:L79M	ENSP00000355250:L378M	L	-	1	2	KIAA0753	6465015	0.161000	0.22892	0.420000	0.26596	0.995000	0.86356	0.497000	0.22514	-0.171000	0.10797	0.460000	0.39030	CTG		0.373	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		8	54	1	0	0.0381472	1	0.0383256	8	54				
PLCXD3	345557	broad.mit.edu	37	5	41313724	41313724	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:41313724T>G	ENST00000377801.3	-	3	1035	c.961A>C	c.(961-963)Act>Cct	p.T321P	PLCXD3_ENST00000328457.3_Missense_Mutation_p.T321P			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	321					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGCTATCAAGTGTTGGCTTCT	0.398																																						ENST00000377801.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(961-963)Act>Cct		phosphatidylinositol-specific phospholipase C, X domain containing 3							116.0	104.0	108.0					5																	41313724		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41313724T>G		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.961A>C	5.37:g.41313724T>G	ENSP00000367032:p.Thr321Pro					PLCXD3_ENST00000328457.3_Missense_Mutation_p.T321P	p.T321P			Q63HM9	PLCX3_HUMAN			3	1035	-			321					A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.961A>C	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.164922	0.78339	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	5.65	5.65	0.86999	.	0.198295	0.43747	D	0.000523	T	0.34571	0.0902	N	0.08118	0	0.40864	D	0.983856	P	0.39326	0.668	B	0.35655	0.207	T	0.44967	-0.9293	9	0.66056	D	0.02	.	15.8879	0.79264	0.0:0.0:0.0:1.0	.	321	Q63HM9	PLCX3_HUMAN	P	321	.	ENSP00000333751:T321P	T	-	1	0	PLCXD3	41349481	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.359000	0.66074	2.163000	0.67991	0.533000	0.62120	ACT		0.398	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		15	56	0	0	0	1	0	15	56				
CYP4F11	57834	broad.mit.edu	37	19	16035644	16035644	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:16035644A>G	ENST00000402119.4	-	5	1000	c.574T>C	c.(574-576)Ttt>Ctt	p.F192L	CYP4F11_ENST00000248041.8_Missense_Mutation_p.F192L|CYP4F11_ENST00000591841.1_Intron|CYP4F11_ENST00000326742.8_Missense_Mutation_p.F192L	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ATGTGTTCAAACATGTCCAGT	0.537																																						ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(574-576)Ttt>Ctt		cytochrome P450, family 4, subfamily F, polypeptide 11							90.0	77.0	81.0					19																	16035644		2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16035644A>G	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.574T>C	19.37:g.16035644A>G	ENSP00000384588:p.Phe192Leu					CYP4F11_ENST00000248041.7_Missense_Mutation_p.F192L|CYP4F11_ENST00000402119.3_Missense_Mutation_p.F192L	p.F192L			Q9HBI6	CP4FB_HUMAN			5	575	-			192						Missense_Mutation	SNP	ENST00000402119.4	37	c.574T>C	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	a	15.29	2.788777	0.49997	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.67523	-0.27;-0.27;-0.27	2.84	2.84	0.33178	.	0.000000	0.64402	U	0.000001	T	0.65852	0.2731	L	0.52573	1.65	0.40896	D	0.984115	B;B	0.30406	0.278;0.19	B;B	0.42798	0.398;0.327	T	0.68812	-0.5310	10	0.66056	D	0.02	.	9.135	0.36868	1.0:0.0:0.0:0.0	.	192;192	F8W978;Q9HBI6	.;CP4FB_HUMAN	L	192	ENSP00000384588:F192L;ENSP00000248041:F192L;ENSP00000319859:F192L	ENSP00000248041:F192L	F	-	1	0	CYP4F11	15896644	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	5.050000	0.64251	1.297000	0.44761	0.248000	0.18094	TTT		0.537	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		30	76	0	0	0	1	0	30	76				
INHBB	3625	broad.mit.edu	37	2	121107281	121107281	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:121107281C>T	ENST00000295228.3	+	2	1101	c.1055C>T	c.(1054-1056)aCg>aTg	p.T352M		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	352					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TCCTTCCACACGGCTGTGGTG	0.622																																						ENST00000295228.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15						c.(1054-1056)aCg>aTg		inhibin, beta B							51.0	49.0	50.0					2																	121107281		2203	4300	6503	SO:0001583	missense	3625				activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	g.chr2:121107281C>T		CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.1055C>T	2.37:g.121107281C>T	ENSP00000295228:p.Thr352Met						p.T352M	NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN			2	1101	+		Prostate(154;0.122)	352					Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	c.1055C>T	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294137	0.60086	.	.	ENSG00000163083	ENST00000295228	D	0.84223	-1.82	4.57	4.57	0.56435	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91466	0.7306	M	0.69823	2.125	0.52501	D	0.999956	D	0.89917	1.0	D	0.79784	0.993	D	0.92567	0.6063	10	0.87932	D	0	-27.3619	16.2785	0.82657	0.0:1.0:0.0:0.0	.	352	P09529	INHBB_HUMAN	M	352	ENSP00000295228:T352M	ENSP00000295228:T352M	T	+	2	0	INHBB	120823751	1.000000	0.71417	0.983000	0.44433	0.865000	0.49528	5.699000	0.68310	2.368000	0.80403	0.462000	0.41574	ACG		0.622	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			26	65	0	0	0	1	0	26	65				
BIRC8	112401	broad.mit.edu	37	19	53793236	53793236	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:53793236A>T	ENST00000426466.1	-	1	1639	c.392T>A	c.(391-393)aTa>aAa	p.I131K		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	131					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TTCCTCCATTATTTTCTTAAC	0.378																																						ENST00000426466.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19						c.(391-393)aTa>aAa		baculoviral IAP repeat containing 8							151.0	152.0	152.0					19																	53793236		2203	4300	6503	SO:0001583	missense	112401				apoptosis		zinc ion binding	g.chr19:53793236A>T	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.392T>A	19.37:g.53793236A>T	ENSP00000412957:p.Ile131Lys						p.I131K	NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	1	1639	-			131					Q6IPY1|Q96RW5	Missense_Mutation	SNP	ENST00000426466.1	37	c.392T>A	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.379043	0.24944	.	.	ENSG00000163098	ENST00000426466	T	0.37058	1.22	0.502	0.502	0.16932	.	.	.	.	.	T	0.31734	0.0806	M	0.65975	2.015	0.35526	D	0.801873	B	0.11235	0.004	B	0.08055	0.003	T	0.32322	-0.9911	9	0.54805	T	0.06	-0.8578	5.4107	0.16346	0.9999:0.0:1.0E-4:0.0	.	131	Q96P09	BIRC8_HUMAN	K	131	ENSP00000412957:I131K	ENSP00000412957:I131K	I	-	2	0	BIRC8	58485048	0.985000	0.35326	0.715000	0.30552	0.262000	0.26303	0.722000	0.25925	0.486000	0.27676	0.344000	0.21773	ATA		0.378	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		4	194	0	0	0	1	0	4	194				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	284802							g.chr20:29628283G>C			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.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	103	0	0	0	1	0	6	103				
MMS22L	253714	broad.mit.edu	37	6	97715756	97715756	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:97715756A>G	ENST00000275053.4	-	8	1085	c.820T>C	c.(820-822)Tac>Cac	p.Y274H	MMS22L_ENST00000506256.1_5'UTR|MMS22L_ENST00000369251.2_Missense_Mutation_p.Y274H	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	274					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACCTTGTCGTACCTGTTGAGT	0.328																																						ENST00000275053.4																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(820-822)Tac>Cac		MMS22-like, DNA repair protein							96.0	89.0	91.0					6																	97715756		2203	4299	6502	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97715756A>G		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.820T>C	6.37:g.97715756A>G	ENSP00000275053:p.Tyr274His					MMS22L_ENST00000506256.1_5'UTR|MMS22L_ENST00000369251.2_Missense_Mutation_p.Y274H	p.Y274H	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN			8	1085	-			274					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.820T>C	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.916407	0.92249	.	.	ENSG00000146263	ENST00000275053;ENST00000369251;ENST00000510018	T;T;T	0.46819	0.86;0.86;0.86	5.26	5.26	0.73747	.	0.064502	0.64402	D	0.000005	T	0.58694	0.2140	M	0.70275	2.135	0.58432	D	0.999994	D;D	0.69078	0.997;0.993	D;P	0.64410	0.925;0.885	T	0.65561	-0.6138	10	0.87932	D	0	-3.8208	15.1577	0.72755	1.0:0.0:0.0:0.0	.	274;274	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	H	274;274;200	ENSP00000275053:Y274H;ENSP00000358254:Y274H;ENSP00000427288:Y200H	ENSP00000275053:Y274H	Y	-	1	0	MMS22L	97822477	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.383000	0.90157	1.993000	0.58246	0.477000	0.44152	TAC		0.328	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		3	15	0	0	0	1	0	3	15				
CUL2	8453	broad.mit.edu	37	10	35351986	35351986	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:35351986T>C	ENST00000374748.1	-	4	437	c.124A>G	c.(124-126)Atc>Gtc	p.I42V	CUL2_ENST00000602371.1_De_novo_Start_InFrame|CUL2_ENST00000374742.1_Missense_Mutation_p.I42V|CUL2_ENST00000478044.1_5'Flank|CUL2_ENST00000374746.1_Missense_Mutation_p.I42V|CUL2_ENST00000537177.1_Missense_Mutation_p.I61V|CUL2_ENST00000374751.3_Missense_Mutation_p.I42V|CUL2_ENST00000374749.3_Missense_Mutation_p.I42V			Q13617	CUL2_HUMAN	cullin 2	42					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AAAGCATAGATATCTCTAGTT	0.294																																						ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(124-126)Atc>Gtc		cullin 2							57.0	58.0	57.0					10																	35351986		2203	4299	6502	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35351986T>C	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.124A>G	10.37:g.35351986T>C	ENSP00000363880:p.Ile42Val					CUL2_ENST00000374742.1_Missense_Mutation_p.I42V|CUL2_ENST00000537177.1_Missense_Mutation_p.I61V|CUL2_ENST00000374751.3_Missense_Mutation_p.I42V|CUL2_ENST00000374749.3_Missense_Mutation_p.I42V|CUL2_ENST00000602371.1_De_novo_Start_InFrame|CUL2_ENST00000374746.1_Missense_Mutation_p.I42V	p.I42V			Q13617	CUL2_HUMAN			4	437	-			42					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.124A>G	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	T	7.734	0.699809	0.15106	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374742;ENST00000537177;ENST00000421317	T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.73	5.73	0.89815	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	N	0.00510	-1.415	0.80722	D	1	B;B;B	0.22276	0.067;0.03;0.038	B;B;B	0.25614	0.062;0.037;0.062	T	0.50389	-0.8834	10	0.02654	T	1	-14.5614	16.0329	0.80593	0.0:0.0:0.0:1.0	.	42;61;42	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	V	42;42;42;42;42;61;42	ENSP00000363883:I42V;ENSP00000363880:I42V;ENSP00000363878:I42V;ENSP00000363881:I42V;ENSP00000363874:I42V;ENSP00000444856:I61V;ENSP00000414095:I42V	ENSP00000363874:I42V	I	-	1	0	CUL2	35391992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.205000	0.72148	2.197000	0.70478	0.533000	0.62120	ATC		0.294	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		10	40	0	0	0	1	0	10	40				
SLC11A2	4891	broad.mit.edu	37	12	51390601	51390601	+	Splice_Site	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:51390601T>G	ENST00000262051.7	-	9	917	c.830A>C	c.(829-831)aAg>aCg	p.K277T	SLC11A2_ENST00000547198.1_Splice_Site_p.K277T|SLC11A2_ENST00000394904.3_Splice_Site_p.K306T|SLC11A2_ENST00000545993.2_Splice_Site_p.K273T|SLC11A2_ENST00000262052.5_Splice_Site_p.K277T|SLC11A2_ENST00000541174.2_Splice_Site_p.K277T|SLC11A2_ENST00000546743.1_Splice_Site_p.K198T|SLC11A2_ENST00000547688.1_Splice_Site_p.K306T	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	277					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CTTGCTCACCTTGACTAAGGC	0.478																																						ENST00000394904.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						c.e9+1		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2							180.0	128.0	146.0					12																	51390601		2203	4300	6503	SO:0001630	splice_region_variant	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51390601T>G	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.831+1A>C	12.37:g.51390601T>G						SLC11A2_ENST00000262052.5_Splice_Site_p.K277_splice|SLC11A2_ENST00000262051.7_Splice_Site_p.K277_splice|SLC11A2_ENST00000541174.2_Splice_Site_p.K277_splice|SLC11A2_ENST00000546743.1_Splice_Site_p.K198_splice|SLC11A2_ENST00000545993.2_Splice_Site_p.K273_splice|SLC11A2_ENST00000547198.1_Splice_Site_p.K277_splice|SLC11A2_ENST00000547688.1_Splice_Site_p.K306_splice	p.K306_splice	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN			9	966	-			277					B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Splice_Site	SNP	ENST00000262051.7	37	c.918_splice	CCDS53792.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.987557	0.93106	.	.	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000546743	T;T;T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.84973	0.5591	M	0.82433	2.59	0.80722	D	1	D;D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.998;0.996	D;D;D;D;D;D	0.80764	0.993;0.994;0.994;0.991;0.991;0.983	D	0.87248	0.2271	10	0.87932	D	0	-16.5888	15.1154	0.72397	0.0:0.0:0.0:1.0	.	240;273;306;277;126;277	B7Z9M2;F5H741;P49281-3;P49281-2;B3KY44;P49281	.;.;.;.;.;NRAM2_HUMAN	T	277;277;277;306;306;277;273;198	ENSP00000262051:K277T;ENSP00000446769:K277T;ENSP00000262052:K277T;ENSP00000378364:K306T;ENSP00000449200:K306T;ENSP00000444542:K277T;ENSP00000442810:K273T;ENSP00000446914:K198T	ENSP00000262051:K277T	K	-	2	0	SLC11A2	49676868	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.705000	0.84606	2.208000	0.71279	0.533000	0.62120	AAG		0.478	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1		Missense_Mutation	8	96	0	0	0	1	0	8	96				
CORO2A	7464	broad.mit.edu	37	9	100893279	100893279	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:100893279G>A	ENST00000343933.5	-	7	1085	c.828C>T	c.(826-828)ccC>ccT	p.P276P	CORO2A_ENST00000375077.4_Silent_p.P276P	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	276					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CGTCATAGAAGGGAAACAGCA	0.642																																						ENST00000343933.5																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26						c.(826-828)ccC>ccT		coronin, actin binding protein, 2A							77.0	54.0	62.0					9																	100893279		2203	4300	6503	SO:0001819	synonymous_variant	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100893279G>A	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.828C>T	9.37:g.100893279G>A						CORO2A_ENST00000375077.4_Silent_p.P276P	p.P276P	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN			7	1085	-		Acute lymphoblastic leukemia(62;0.0559)	276					Q5TBR5|Q92829|Q9BWS5	Silent	SNP	ENST00000343933.5	37	c.828C>T	CCDS6735.1																																																																																				0.642	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		5	43	0	0	0	1	0	5	43				
HDAC5	10014	broad.mit.edu	37	17	42169798	42169798	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:42169798A>G	ENST00000393622.2	-	8	1201	c.870T>C	c.(868-870)atT>atC	p.I290I	HDAC5_ENST00000225983.6_Silent_p.I291I|HDAC5_ENST00000586802.1_Silent_p.I290I|HDAC5_ENST00000336057.5_Silent_p.I290I	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	290					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TAAAGGTGCTAATAACAGTCC	0.552																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(871-873)atT>atC		histone deacetylase 5							49.0	52.0	51.0					17																	42169798		2203	4300	6503	SO:0001819	synonymous_variant	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42169798A>G	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.870T>C	17.37:g.42169798A>G						HDAC5_ENST00000586802.1_Silent_p.I290I|HDAC5_ENST00000393622.2_Silent_p.I290I|HDAC5_ENST00000336057.5_Silent_p.I290I	p.I291I			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	8	1196	-		Breast(137;0.00637)|Prostate(33;0.0313)	290					C9JFV9|O60340|O60528|Q96DY4	Silent	SNP	ENST00000393622.2	37	c.873T>C	CCDS45696.1																																																																																				0.552	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		15	32	0	0	0	1	0	15	32				
TOP1	7150	broad.mit.edu	37	20	39729957	39729957	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:39729957T>C	ENST00000361337.2	+	13	1522	c.1272T>C	c.(1270-1272)atT>atC	p.I424I	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	424					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	AAGGTTCCATTAAATACATCA	0.433			T	NUP98	AML*																																	ENST00000361337.2				Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(1270-1272)atT>atC		topoisomerase (DNA) I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)						110.0	91.0	98.0					20																	39729957		2203	4300	6503	SO:0001819	synonymous_variant	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39729957T>C		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.1272T>C	20.37:g.39729957T>C						RP1-1J6.2_ENST00000454626.1_RNA	p.I424I	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN			13	1522	+		Myeloproliferative disorder(115;0.00878)	424					A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Silent	SNP	ENST00000361337.2	37	c.1272T>C	CCDS13312.1																																																																																				0.433	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			18	48	0	0	0	1	0	18	48				
ATP8B2	57198	broad.mit.edu	37	1	154315748	154315748	+	Missense_Mutation	SNP	A	A	G	rs148837394		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:154315748A>G	ENST00000368489.3	+	16	1712	c.1712A>G	c.(1711-1713)aAc>aGc	p.N571S		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	557					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGGACTTCAACAACATCCGC	0.577													A|||	1	0.000199681	0.0	0.0014	5008	,	,		18360	0.0		0.0	False		,,,				2504	0.0					ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1711-1713)aAc>aGc		ATPase, aminophospholipid transporter, class I, type 8B, member 2		A	SER/ASN	0,4406		0,0,2203	47.0	40.0	42.0		1712	4.3	1.0	1	dbSNP_134	42	4,8596	3.7+/-12.6	0,4,4296	yes	missense	ATP8B2	NM_020452.3	46	0,4,6499	GG,GA,AA		0.0465,0.0,0.0308	possibly-damaging	571/1224	154315748	4,13002	2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154315748A>G	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1712A>G	1.37:g.154315748A>G	ENSP00000357475:p.Asn571Ser						p.N571S	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		16	1712	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		557					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.1712A>G	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.226561	0.79576	0.0	4.65E-4	ENSG00000143515	ENST00000368489	D	0.81739	-1.53	5.46	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.63129	0.2485	L	0.35288	1.05	0.80722	D	1	B	0.28350	0.208	B	0.38378	0.272	T	0.62918	-0.6752	10	0.37606	T	0.19	.	10.6152	0.45445	0.9256:0.0:0.0744:0.0	.	571	P98198-3	.	S	571	ENSP00000357475:N571S	ENSP00000357475:N571S	N	+	2	0	ATP8B2	152582372	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.139000	0.94554	1.092000	0.41356	0.533000	0.62120	AAC		0.577	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		13	44	0	0	0	1	0	13	44				
PLEKHA7	144100	broad.mit.edu	37	11	16812423	16812423	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:16812423T>C	ENST00000355661.3	-	21	2984	c.2974A>G	c.(2974-2976)Acc>Gcc	p.T992A	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.T993A|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.T992A			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	992					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CCGCTGAGGGTCGCCAGCTCA	0.647																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(2974-2976)Acc>Gcc		pleckstrin homology domain containing, family A member 7							37.0	32.0	33.0					11																	16812423		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16812423T>C	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2974A>G	11.37:g.16812423T>C	ENSP00000347883:p.Thr992Ala					PLEKHA7_ENST00000448080.2_Missense_Mutation_p.T993A|PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.T992A	p.T992A			Q6IQ23	PKHA7_HUMAN			21	2984	-			992					B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.2974A>G	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.274371	0.40194	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.07567	3.19;3.19;3.18	5.59	0.469	0.16741	.	0.454335	0.27159	N	0.020656	T	0.02304	0.0071	N	0.01874	-0.695	0.09310	N	0.99999	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.0;0.001;0.002	T	0.43491	-0.9388	10	0.23302	T	0.38	-7.9211	3.6226	0.08101	0.2563:0.2064:0.0:0.5373	.	567;992;992;993;109	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2;Q8IUS9	.;.;PKHA7_HUMAN;.;.	A	992;992;993	ENSP00000435389:T992A;ENSP00000347883:T992A;ENSP00000416895:T993A	ENSP00000347883:T992A	T	-	1	0	PLEKHA7	16768999	0.013000	0.17824	0.941000	0.38009	0.992000	0.81027	0.945000	0.29056	0.475000	0.27415	0.454000	0.30748	ACC		0.647	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		5	17	0	0	0	1	0	5	17				
FLVCR2	55640	broad.mit.edu	37	14	76091084	76091084	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:76091084T>C	ENST00000238667.4	+	3	1297	c.941T>C	c.(940-942)gTc>gCc	p.V314A	FLVCR2_ENST00000539311.1_Missense_Mutation_p.V109A|FLVCR2_ENST00000553587.1_Missense_Mutation_p.V62A|FLVCR2_ENST00000556856.1_Missense_Mutation_p.V62A|FLVCR2_ENST00000556241.1_3'UTR	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	314					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GTGCTGCTTGTCATCACCTAT	0.453																																						ENST00000238667.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(940-942)gTc>gCc		feline leukemia virus subgroup C cellular receptor family, member 2							106.0	99.0	102.0					14																	76091084		2203	4300	6503	SO:0001583	missense	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76091084T>C	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.941T>C	14.37:g.76091084T>C	ENSP00000238667:p.Val314Ala					FLVCR2_ENST00000556856.1_Missense_Mutation_p.V62A|FLVCR2_ENST00000553587.1_Missense_Mutation_p.V62A|FLVCR2_ENST00000539311.1_Missense_Mutation_p.V109A|FLVCR2_ENST00000556241.1_3'UTR	p.V314A	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	3	1297	+			314					B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	ENST00000238667.4	37	c.941T>C	CCDS9844.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.741658	0.69304	.	.	ENSG00000119686	ENST00000238667;ENST00000539311;ENST00000555058;ENST00000553587;ENST00000556856	T;T;T;T;T	0.58940	0.3;0.3;0.37;0.37;0.37	6.02	6.02	0.97574	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.603857	0.19021	N	0.124808	T	0.52629	0.1746	L	0.45228	1.405	0.80722	D	1	B;B	0.19445	0.036;0.036	B;B	0.28553	0.091;0.07	T	0.45659	-0.9246	10	0.19590	T	0.45	-7.8885	15.5272	0.75919	0.0:0.0:0.0:1.0	.	109;314	B7Z485;Q9UPI3	.;FLVC2_HUMAN	A	314;109;62;62;62	ENSP00000238667:V314A;ENSP00000443439:V109A;ENSP00000451104:V62A;ENSP00000451603:V62A;ENSP00000452468:V62A	ENSP00000238667:V314A	V	+	2	0	AC007182.1	75160837	1.000000	0.71417	0.938000	0.37757	0.962000	0.63368	7.113000	0.77095	2.311000	0.77944	0.533000	0.62120	GTC		0.453	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		9	108	0	0	0	1	0	9	108				
DSG4	147409	broad.mit.edu	37	18	28991197	28991197	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:28991197T>C	ENST00000308128.4	+	15	2276	c.2141T>C	c.(2140-2142)aTc>aCc	p.I714T	DSG4_ENST00000359747.4_Missense_Mutation_p.I733T|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	714					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTTTCAGAAATCTACACCAAC	0.607																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2197-2199)aTc>aCc		desmoglein 4							84.0	78.0	80.0					18																	28991197		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28991197T>C	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2141T>C	18.37:g.28991197T>C	ENSP00000311859:p.Ile714Thr					DSG4_ENST00000308128.4_Missense_Mutation_p.I714T|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	p.I733T	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		14	2227	+			714					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2198T>C	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.739323	0.69304	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.56103	0.48;0.48	5.96	5.96	0.96718	.	0.000000	0.35466	N	0.003192	T	0.58836	0.2150	L	0.44542	1.39	0.43207	D	0.995061	D;P	0.54772	0.968;0.61	P;B	0.54889	0.763;0.366	T	0.57619	-0.7780	10	0.41790	T	0.15	.	15.0003	0.71466	0.0:0.0:0.0:1.0	.	733;714	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	T	714;733	ENSP00000311859:I714T;ENSP00000352785:I733T	ENSP00000311859:I714T	I	+	2	0	DSG4	27245195	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.802000	0.62539	2.271000	0.75665	0.528000	0.53228	ATC		0.607	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		8	128	0	0	0	1	0	8	128				
ACTRT1	139741	broad.mit.edu	37	X	127185998	127185998	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:127185998T>C	ENST00000371124.3	-	1	384	c.188A>G	c.(187-189)tAc>tGc	p.Y63C		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	63						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTCATACTTGTACAGGGCTTC	0.493																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(187-189)tAc>tGc		actin-related protein T1							123.0	113.0	117.0					X																	127185998		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185998T>C	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.188A>G	X.37:g.127185998T>C	ENSP00000360165:p.Tyr63Cys						p.Y63C	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	384	-			63					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.188A>G	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	T	7.386	0.629856	0.14257	.	.	ENSG00000123165	ENST00000371124	D	0.94376	-3.41	3.76	-5.14	0.02875	.	1.360790	0.04711	N	0.417564	D	0.84786	0.5549	N	0.21373	0.66	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.69939	-0.5009	10	0.87932	D	0	.	1.5327	0.02539	0.2757:0.3785:0.1385:0.2073	.	63	Q8TDG2	ACTT1_HUMAN	C	63	ENSP00000360165:Y63C	ENSP00000360165:Y63C	Y	-	2	0	ACTRT1	127013679	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-0.037000	0.12164	-1.318000	0.02289	-1.396000	0.01147	TAC		0.493	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		67	74	0	0	0	1	0	67	74				
COL6A2	1292	broad.mit.edu	37	21	47536294	47536294	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:47536294G>A	ENST00000300527.4	+	8	1008	c.904G>A	c.(904-906)Gtt>Att	p.V302I	COL6A2_ENST00000397763.1_Missense_Mutation_p.V302I|COL6A2_ENST00000310645.5_Missense_Mutation_p.V302I|COL6A2_ENST00000357838.4_Missense_Mutation_p.V302I|COL6A2_ENST00000409416.1_Missense_Mutation_p.V302I	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	302	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCCCCAGGGCGTTCCTGGCTT	0.667																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(904-906)Gtt>Att		collagen, type VI, alpha 2							38.0	35.0	36.0					21																	47536294		2202	4300	6502	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47536294G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.904G>A	21.37:g.47536294G>A	ENSP00000300527:p.Val302Ile					COL6A2_ENST00000357838.4_Missense_Mutation_p.V302I|COL6A2_ENST00000310645.5_Missense_Mutation_p.V302I|COL6A2_ENST00000397763.1_Missense_Mutation_p.V302I|COL6A2_ENST00000409416.1_Missense_Mutation_p.V302I	p.V302I	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	8	1008	+	Breast(49;0.245)		302			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.904G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	9.039	0.989238	0.18966	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24	5.35	3.53	0.40419	.	0.133017	0.49305	D	0.000153	D	0.83248	0.5213	N	0.16266	0.395	0.35524	D	0.801713	P;B;B	0.36249	0.545;0.104;0.014	B;B;B	0.25884	0.064;0.021;0.008	D	0.84542	0.0639	10	0.37606	T	0.19	-11.6324	9.1779	0.37123	0.2271:0.0:0.7729:0.0	.	302;302;302	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	I	302	ENSP00000300527:V302I;ENSP00000350497:V302I;ENSP00000312529:V302I;ENSP00000387115:V302I;ENSP00000380870:V302I	ENSP00000300527:V302I	V	+	1	0	COL6A2	46360722	0.999000	0.42202	0.997000	0.53966	0.436000	0.31835	1.655000	0.37345	1.254000	0.44035	-0.137000	0.14449	GTT		0.667	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			17	43	0	0	0	1	0	17	43				
NT5C3B	115024	broad.mit.edu	37	17	39991346	39991346	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:39991346G>A	ENST00000435506.2	-	4	273	c.204C>T	c.(202-204)atC>atT	p.I68I	NT5C3B_ENST00000521789.1_Silent_p.I35I|RN7SL871P_ENST00000583512.1_RNA|NT5C3B_ENST00000269534.8_Silent_p.I60I|KLHL10_ENST00000293303.4_5'Flank			Q969T7	5NT3B_HUMAN	5'-nucleotidase, cytosolic IIIB	68					nucleotide metabolic process (GO:0009117)	cytoplasm (GO:0005737)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										CCTCACTGATGATCTTGCTAT	0.428																																						ENST00000269534.8																			0											c.(178-180)atC>atT		5'-nucleotidase, cytosolic IIIB							145.0	140.0	142.0					17																	39991346		2203	4300	6503	SO:0001819	synonymous_variant	115024							g.chr17:39991346G>A		CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	3.1.3.5		28300	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic III-like"""	NT5C3L		23223233	Standard	NM_052935		Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000435506.2:c.204C>T	17.37:g.39991346G>A						NT5C3B_ENST00000521789.1_Silent_p.I35I|NT5C3B_ENST00000435506.2_Silent_p.I68I	p.I60I	NM_052935.4	NP_443167.4					4	281	-								A8MWB9|C9JKC4|Q7L3B7	Silent	SNP	ENST00000435506.2	37	c.180C>T	CCDS11410.2																																																																																				0.428	NT5C3B-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257430.2	NM_052935		36	99	0	0	0	1	0	36	99				
APBA1	320	broad.mit.edu	37	9	72067080	72067080	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:72067080G>A	ENST00000265381.4	-	9	2148	c.1926C>T	c.(1924-1926)aaC>aaT	p.N642N		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	642	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCAGGTCATCGTTGTACATGT	0.517																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1924-1926)aaC>aaT		amyloid beta (A4) precursor protein-binding, family A, member 1							241.0	215.0	224.0					9																	72067080		2203	4300	6503	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72067080G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1926C>T	9.37:g.72067080G>A							p.N642N	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			9	2148	-			642			PID.		O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.1926C>T	CCDS6630.1																																																																																				0.517	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		47	164	0	0	0	1	0	47	164				
SIPA1L2	57568	broad.mit.edu	37	1	232601028	232601028	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:232601028T>C	ENST00000366630.1	-	8	2736	c.2378A>G	c.(2377-2379)aAa>aGa	p.K793R	SIPA1L2_ENST00000308942.4_5'Flank|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K793R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	793	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTTTTCTGATTTATGGGCTGC	0.483																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(2377-2379)aAa>aGa		signal-induced proliferation-associated 1 like 2							99.0	98.0	98.0					1																	232601028		1951	4189	6140	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232601028T>C	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2378A>G	1.37:g.232601028T>C	ENSP00000355589:p.Lys793Arg					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K793R	p.K793R			Q9P2F8	SI1L2_HUMAN			8	2736	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	793			Rap-GAP.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2378A>G	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.471676	0.84533	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.49432	0.78;0.78	5.8	5.8	0.92144	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	N	0.17082	0.46	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.52939	-0.8508	10	0.30078	T	0.28	-29.8055	16.143	0.81539	0.0:0.0:0.0:1.0	.	793	Q9P2F8	SI1L2_HUMAN	R	793	ENSP00000355589:K793R;ENSP00000262861:K793R	ENSP00000262861:K793R	K	-	2	0	SIPA1L2	230667651	1.000000	0.71417	0.985000	0.45067	0.889000	0.51656	8.040000	0.89188	2.206000	0.71126	0.528000	0.53228	AAA		0.483	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		4	170	0	0	0	1	0	4	170				
MIS12	79003	broad.mit.edu	37	17	5392753	5392753	+	Missense_Mutation	SNP	A	A	G	rs182055180	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:5392753A>G	ENST00000381165.3	+	3	1124	c.571A>G	c.(571-573)Att>Gtt	p.I191V	MIS12_ENST00000573759.1_Missense_Mutation_p.I191V|DERL2_ENST00000571968.1_5'Flank	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1			MIS12 kinetochore complex component											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						ACTACAGAACATTAGAGACAA	0.383													A|||	2	0.000399361	0.0	0.0	5008	,	,		20623	0.002		0.0	False		,,,				2504	0.0					ENST00000381165.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						c.(571-573)Att>Gtt		MIS12 kinetochore complex component							102.0	103.0	103.0					17																	5392753		2202	4300	6502	SO:0001583	missense	79003				cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr17:5392753A>G	AL136906	CCDS11074.1	17p13.3	2013-07-03	2013-07-03		ENSG00000167842	ENSG00000167842			24967	protein-coding gene	gene with protein product		609178	"""MIS12, MIND kinetochore complex component, homolog (yeast)"", ""MIS12, MIND kinetochore complex component, homolog (S. pombe)"""			11230166, 12515822	Standard	NM_001258217		Approved	MGC2488, hMIS12, KNTC2AP, MTW1	uc031qyj.1	Q9H081	OTTHUMG00000102042	ENST00000381165.3:c.571A>G	17.37:g.5392753A>G	ENSP00000370557:p.Ile191Val					MIS12_ENST00000573759.1_Missense_Mutation_p.I191V	p.I191V	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1	Q9H081	MIS12_HUMAN			3	1124	+			191						Missense_Mutation	SNP	ENST00000381165.3	37	c.571A>G	CCDS11074.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	A	0.211	-1.036613	0.02013	.	.	ENSG00000167842	ENST00000381165	T	0.39997	1.05	5.66	2.0	0.26442	.	0.371459	0.30437	N	0.009624	T	0.22044	0.0531	L	0.35414	1.06	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.25676	-1.0125	10	0.02654	T	1	-18.2105	5.4416	0.16511	0.5237:0.3505:0.1258:0.0	.	191	Q9H081	MIS12_HUMAN	V	191	ENSP00000370557:I191V	ENSP00000370557:I191V	I	+	1	0	MIS12	5333477	0.041000	0.20044	0.160000	0.22671	0.576000	0.36127	0.956000	0.29202	0.941000	0.37499	0.482000	0.46254	ATT		0.383	MIS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219827.1	NM_024039		4	174	0	0	0	1	0	4	174				
SLC38A2	54407	broad.mit.edu	37	12	46764402	46764402	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:46764402A>G	ENST00000256689.5	-	4	651	c.207T>C	c.(205-207)ggT>ggC	p.G69G	SLC38A2_ENST00000547252.1_5'UTR|RP11-474P2.2_ENST00000550319.1_RNA	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	69	Regulates protein turnover upon amino acid deprivation. {ECO:0000250}.				amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		AGGAAGTAGTACCTGGATGCT	0.378																																					Ovarian(9;448 492 8335 28722 40361)	ENST00000256689.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(205-207)ggT>ggC		solute carrier family 38, member 2							105.0	97.0	100.0					12																	46764402		2203	4300	6503	SO:0001819	synonymous_variant	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46764402A>G	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.207T>C	12.37:g.46764402A>G						SLC38A2_ENST00000547252.1_5'UTR	p.G69G	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	4	651	-	Lung SC(27;0.192)|Renal(347;0.236)		69			Regulates protein turnover upon amino acid deprivation (By similarity).		Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	37	c.207T>C	CCDS8749.1																																																																																				0.378	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			8	128	0	0	0	1	0	8	128				
CPA6	57094	broad.mit.edu	37	8	68419112	68419112	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:68419112T>C	ENST00000297770.4	-	6	761	c.546A>G	c.(544-546)cgA>cgG	p.R182R	CPA6_ENST00000518549.1_Silent_p.R182R|CPA6_ENST00000297769.4_Silent_p.R34R	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	182						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TGAGTCGTGATCGTCTGCCCA	0.393																																						ENST00000297770.4																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26						c.(544-546)cgA>cgG		carboxypeptidase A6							153.0	130.0	138.0					8																	68419112		2203	4300	6503	SO:0001819	synonymous_variant	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68419112T>C	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.546A>G	8.37:g.68419112T>C						CPA6_ENST00000518549.1_Silent_p.R182R|CPA6_ENST00000297769.4_Silent_p.R34R	p.R182R	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		6	761	-			182					Q8NEX8|Q8TDE8|Q9NRI9	Silent	SNP	ENST00000297770.4	37	c.546A>G	CCDS6200.1																																																																																				0.393	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		4	63	0	0	0	1	0	4	63				
DCST1	149095	broad.mit.edu	37	1	155023290	155023290	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:155023290G>A	ENST00000295542.1	+	17	2163	c.2067G>A	c.(2065-2067)gaG>gaA	p.E689E	ADAM15_ENST00000447332.3_5'Flank|ADAM15_ENST00000368412.3_5'Flank|ADAM15_ENST00000355956.2_5'Flank|ADAM15_ENST00000359280.4_5'Flank|ADAM15_ENST00000271836.6_5'Flank|ADAM15_ENST00000449910.2_5'Flank|DCST1_ENST00000423025.2_Silent_p.E664E|ADAM15_ENST00000356955.2_5'Flank|ADAM15_ENST00000360674.4_5'Flank|ADAM15_ENST00000368410.2_5'Flank|ADAM15_ENST00000531455.1_5'Flank|ADAM15_ENST00000368413.1_5'Flank	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	689						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCCGCGAAGAGCTCTCTTCCT	0.642											OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000295542.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(2065-2067)gaG>gaA		DC-STAMP domain containing 1							32.0	32.0	32.0					1																	155023290		2203	4300	6503	SO:0001819	synonymous_variant	149095					integral to membrane	zinc ion binding	g.chr1:155023290G>A	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.2067G>A	1.37:g.155023290G>A			OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1767	DCST1_ENST00000423025.2_Silent_p.E664E	p.E689E	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		17	2163	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		689					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Silent	SNP	ENST00000295542.1	37	c.2067G>A	CCDS1083.1																																																																																				0.642	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		4	27	0	0	0	1	0	4	27				
RNGTT	8732	broad.mit.edu	37	6	89554217	89554217	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:89554217A>G	ENST00000369485.4	-	11	1314	c.1128T>C	c.(1126-1128)gaT>gaC	p.D376D	RNGTT_ENST00000538899.1_Silent_p.D316D|RNGTT_ENST00000369475.3_Silent_p.D376D|RNGTT_ENST00000265607.6_Silent_p.D376D	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	376	GTase.|Interaction with POLR2A. {ECO:0000250}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		GAACATTAAAATCACAATCTC	0.353																																						ENST00000369485.4																			0				endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21						c.(1126-1128)gaT>gaC		RNA guanylyltransferase and 5'-phosphatase							123.0	125.0	124.0					6																	89554217		2203	4300	6503	SO:0001819	synonymous_variant	8732				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:89554217A>G	AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.1128T>C	6.37:g.89554217A>G						RNGTT_ENST00000265607.6_Silent_p.D376D|RNGTT_ENST00000538899.1_Silent_p.D316D|RNGTT_ENST00000369475.3_Silent_p.D376D	p.D376D	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.151)	11	1314	-		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)	376			GTase.		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Silent	SNP	ENST00000369485.4	37	c.1128T>C	CCDS5017.1																																																																																				0.353	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			37	83	0	0	0	1	0	37	83				
HHIP	64399	broad.mit.edu	37	4	145580835	145580835	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:145580835C>T	ENST00000296575.3	+	4	1331	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Silent_p.L226L	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	226					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TGTGAGTGGGCTGCGGCAGCC	0.463																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(676-678)Ctg>Ttg		hedgehog interacting protein							125.0	137.0	133.0					4																	145580835		2203	4300	6503	SO:0001819	synonymous_variant	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145580835C>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.676C>T	4.37:g.145580835C>T						HHIP_ENST00000434550.2_Silent_p.L226L|HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA	p.L226L	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	4	1331	+	all_hematologic(180;0.151)		226					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Silent	SNP	ENST00000296575.3	37	c.676C>T	CCDS3762.1																																																																																				0.463	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			5	211	0	0	0	1	0	5	211				
DDX46	9879	broad.mit.edu	37	5	134131842	134131842	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:134131842T>C	ENST00000354283.4	+	15	2089		c.e15+2		DDX46_ENST00000452510.2_Splice_Site			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCATGGAGGTAATTATTCAC	0.353																																					Colon(13;391 453 4901 21675 24897)	ENST00000452510.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.e15+2		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							123.0	117.0	119.0					5																	134131842		2203	4299	6502	SO:0001630	splice_region_variant	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134131842T>C		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.1954+2T>C	5.37:g.134131842T>C						DDX46_ENST00000354283.4_Splice_Site		NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		15	2112	+								O94894|Q96EI0|Q9Y658	Splice_Site	SNP	ENST00000354283.4	37		CCDS34240.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810483	0.70797	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0947	0.65013	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX46	134159741	1.000000	0.71417	0.941000	0.38009	0.859000	0.49053	7.997000	0.88414	1.796000	0.52611	0.260000	0.18958	.		0.353	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829	Intron	5	53	0	0	0	1	0	5	53				
NACA2	342538	broad.mit.edu	37	17	59668030	59668030	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:59668030A>G	ENST00000521764.1	-	1	533	c.512T>C	c.(511-513)gTc>gCc	p.V171A		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	171					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TGTTTCATCGACCTCTTCCTC	0.448																																						ENST00000521764.1																			0				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(511-513)gTc>gCc		nascent polypeptide-associated complex alpha subunit 2							300.0	271.0	281.0					17																	59668030		2203	4300	6503	SO:0001583	missense	342538				protein transport	cytoplasm|nucleus		g.chr17:59668030A>G	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.512T>C	17.37:g.59668030A>G	ENSP00000427802:p.Val171Ala						p.V171A	NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN			1	533	-	all_epithelial(1;3.12e-14)		171					Q2VIR9	Missense_Mutation	SNP	ENST00000521764.1	37	c.512T>C	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	A	17.34	3.365866	0.61513	.	.	ENSG00000253506	ENST00000521764	T	0.55052	0.54	0.753	-0.474	0.12108	.	0.000000	0.64402	U	0.000010	T	0.64216	0.2578	M	0.81112	2.525	0.44523	D	0.997471	D	0.58970	0.984	D	0.68192	0.956	T	0.59894	-0.7368	9	.	.	.	.	4.1253	0.10125	0.7443:0.0:0.2557:0.0	.	171	Q9H009	NACA2_HUMAN	A	171	ENSP00000427802:V171A	.	V	-	2	0	NACA2	57022812	1.000000	0.71417	0.843000	0.33291	0.640000	0.38277	6.170000	0.71920	-0.201000	0.10284	0.338000	0.21704	GTC		0.448	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290		8	297	0	0	0	1	0	8	297				
ASCC2	84164	broad.mit.edu	37	22	30198121	30198121	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:30198121T>C	ENST00000397771.2	-	15	1607	c.1430A>G	c.(1429-1431)gAc>gGc	p.D477G	ASCC2_ENST00000542393.1_Missense_Mutation_p.D401G|ASCC2_ENST00000307790.3_Missense_Mutation_p.D477G			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	477	CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TGGCAGCAGGTCCTTCACTTG	0.597																																						ENST00000397771.2																			0				endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1429-1431)gAc>gGc		activating signal cointegrator 1 complex subunit 2							71.0	64.0	66.0					22																	30198121		2203	4300	6503	SO:0001583	missense	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30198121T>C	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1430A>G	22.37:g.30198121T>C	ENSP00000380877:p.Asp477Gly					ASCC2_ENST00000542393.1_Missense_Mutation_p.D401G|ASCC2_ENST00000307790.3_Missense_Mutation_p.D477G	p.D477G			Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		15	1607	-			477			CUE.		B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	c.1430A>G	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.753024	0.89753	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.52295	0.67;0.67;0.67	5.64	5.64	0.86602	Ubiquitin system component Cue (3);UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.74390	0.3710	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.80281	-0.1448	10	0.87932	D	0	-28.083	15.1937	0.73067	0.0:0.0:0.0:1.0	.	401;477	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	G	477;477;401	ENSP00000305502:D477G;ENSP00000380877:D477G;ENSP00000437570:D401G	ENSP00000305502:D477G	D	-	2	0	ASCC2	28528121	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.100000	0.76989	2.367000	0.80283	0.528000	0.53228	GAC		0.597	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		17	51	0	0	0	1	0	17	51				
ARHGAP39	80728	broad.mit.edu	37	8	145772613	145772613	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145772613C>T	ENST00000276826.5	-	4	2058	c.1857G>A	c.(1855-1857)agG>agA	p.R619R	ARHGAP39_ENST00000540274.1_Silent_p.R619R|ARHGAP39_ENST00000377307.2_Silent_p.R619R|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	619					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGAAGGTGCCCCTCCTCCAGT	0.682																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1855-1857)agG>agA		Rho GTPase activating protein 39							37.0	29.0	32.0					8																	145772613		2200	4300	6500	SO:0001819	synonymous_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145772613C>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1857G>A	8.37:g.145772613C>T						ARHGAP39_ENST00000377307.2_Silent_p.R619R|ARHGAP39_ENST00000540274.1_Silent_p.R619R	p.R619R			Q9C0H5	RHG39_HUMAN			4	2058	-			619					B4E1I1	Silent	SNP	ENST00000276826.5	37	c.1857G>A																																																																																					0.682	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			10	37	0	0	0	1	0	10	37				
GPR125	166647	broad.mit.edu	37	4	22414896	22414896	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:22414896C>T	ENST00000334304.5	-	14	2410	c.2141G>A	c.(2140-2142)gGc>gAc	p.G714D	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	714	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGACTTCCAGCCTCCTTGTCC	0.468																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2140-2142)gGc>gAc		G protein-coupled receptor 125							189.0	186.0	187.0					4																	22414896		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22414896C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2141G>A	4.37:g.22414896C>T	ENSP00000334952:p.Gly714Asp					GPR125_ENST00000282943.5_5'UTR	p.G714D	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			14	2410	-		Breast(46;0.198)	714			GPS.		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2141G>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744968	0.89663	.	.	ENSG00000152990	ENST00000334304	T	0.68765	-0.35	5.87	5.87	0.94306	GPS domain (3);	0.050325	0.85682	D	0.000000	T	0.77850	0.4192	L	0.56199	1.76	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.73380	0.945;0.98	T	0.76154	-0.3063	10	0.44086	T	0.13	-31.7862	15.6556	0.77133	0.0:0.8635:0.1365:0.0	.	571;714	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	D	714	ENSP00000334952:G714D	ENSP00000334952:G714D	G	-	2	0	GPR125	22023994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.440000	0.66563	2.775000	0.95449	0.650000	0.86243	GGC		0.468	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			42	169	0	0	0	1	0	42	169				
RIC3	79608	broad.mit.edu	37	11	8161645	8161645	+	Missense_Mutation	SNP	C	C	T	rs551935966		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:8161645C>T	ENST00000309737.6	-	2	219	c.220G>A	c.(220-222)Gag>Aag	p.E74K	RIC3_ENST00000335425.7_Intron|RIC3_ENST00000343202.4_Missense_Mutation_p.E74K|RIC3_ENST00000539720.1_Missense_Mutation_p.E25K|RIC3_ENST00000425599.2_Missense_Mutation_p.E74K|RIC3_ENST00000419822.2_Missense_Mutation_p.E74K|RIC3_ENST00000530060.1_5'Flank			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	74					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GCAAATGCCTCGGCAAGGTGA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		15249	0.001		0.0	False		,,,				2504	0.0					ENST00000343202.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17						c.(220-222)Gag>Aag		RIC3 acetylcholine receptor chaperone							95.0	100.0	98.0					11																	8161645		2201	4296	6497	SO:0001583	missense	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8161645C>T		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.220G>A	11.37:g.8161645C>T	ENSP00000308820:p.Glu74Lys					RIC3_ENST00000425599.2_Missense_Mutation_p.E74K|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000309737.6_Missense_Mutation_p.E74K|RIC3_ENST00000539720.1_Missense_Mutation_p.E25K|RIC3_ENST00000419822.2_Missense_Mutation_p.E74K	p.E74K	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	2	285	-			74					B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	37	c.220G>A	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	C	36	5.614411	0.96649	.	.	ENSG00000166405	ENST00000343202;ENST00000309737;ENST00000543346;ENST00000539720;ENST00000425599;ENST00000531450;ENST00000419822	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	T	0.60130	0.2245	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.992;0.997;0.998;0.998	T	0.62632	-0.6813	10	0.66056	D	0.02	.	19.6275	0.95684	0.0:1.0:0.0:0.0	.	74;74;74;74;74	B7Z1U4;B0B1U0;Q7Z5B4-2;Q7Z5B4;Q7Z5B4-5	.;.;.;RIC3_HUMAN;.	K	74;74;74;25;74;74;74	ENSP00000344904:E74K;ENSP00000308820:E74K;ENSP00000443871:E25K;ENSP00000395320:E74K;ENSP00000431658:E74K;ENSP00000404415:E74K	ENSP00000308820:E74K	E	-	1	0	RIC3	8118221	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.405000	0.73272	2.625000	0.88918	0.650000	0.86243	GAG		0.537	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		27	98	0	0	0	1	0	27	98				
VPS26A	9559	broad.mit.edu	37	10	70922189	70922189	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:70922189A>G	ENST00000373382.1	+	7	1232	c.579A>G	c.(577-579)ggA>ggG	p.G193G	VPS26A_ENST00000263559.6_Silent_p.G193G|VPS26A_ENST00000395098.1_Silent_p.G193G|VPS26A_ENST00000489794.1_Silent_p.G168G|VPS26A_ENST00000546041.1_Silent_p.G176G|VPS26A_ENST00000541711.1_Silent_p.G82G|VPS26A_ENST00000490696.1_3'UTR			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	193					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TGATTGTTGGAAAAATTTACT	0.294																																					Colon(90;545 1358 4729 6702 16773)	ENST00000373382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						c.(577-579)ggA>ggG		vacuolar protein sorting 26 homolog A (S. pombe)							43.0	47.0	45.0					10																	70922189		2200	4295	6495	SO:0001819	synonymous_variant	9559				retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity	g.chr10:70922189A>G	AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"""vacuolar protein sorting 26 (yeast homolog)"", ""vacuolar protein sorting 26 (yeast)"", ""vacuolar protein sorting 26 homolog A (yeast)"""	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.579A>G	10.37:g.70922189A>G						VPS26A_ENST00000263559.6_Silent_p.G193G|VPS26A_ENST00000395098.1_Silent_p.G193G|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000546041.1_Silent_p.G176G|VPS26A_ENST00000541711.1_Silent_p.G82G|VPS26A_ENST00000489794.1_Silent_p.G168G	p.G193G			O75436	VP26A_HUMAN			7	1232	+			193					A8MZ56|B2RDD3|Q8TBH4|Q9H982	Silent	SNP	ENST00000373382.1	37	c.579A>G	CCDS7286.1																																																																																				0.294	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	NM_004896		9	28	0	0	0	1	0	9	28				
CROCCP2	84809	broad.mit.edu	37	1	16946358	16946358	+	lincRNA	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:16946358G>A	ENST00000412962.1	-	0	1161				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCTCGCTCTCGGCCAGGAGGA	0.662																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946358G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946358G>A														0	1161	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.662	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	17	0	0	0	1	0	4	17				
HECTD4	283450	broad.mit.edu	37	12	112608228	112608228	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:112608228G>A	ENST00000430131.2	-	68	11840	c.10695C>T	c.(10693-10695)acC>acT	p.T3565T	HECTD4_ENST00000550722.1_Silent_p.T3841T|HECTD4_ENST00000377560.5_Silent_p.T3815T			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3565					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GATTCATCACGGTCACCTTCG	0.582											OREG0022132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000550722.1																			0											c.(11521-11523)acC>acT		HECT domain containing E3 ubiquitin protein ligase 4							71.0	74.0	73.0					12																	112608228		2078	4218	6296	SO:0001819	synonymous_variant	283450							g.chr12:112608228G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10695C>T	12.37:g.112608228G>A			OREG0022132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1444	HECTD4_ENST00000430131.2_Silent_p.T3565T|HECTD4_ENST00000377560.5_Silent_p.T3815T	p.T3841T	NM_001109662.3	NP_001103132.3					69	11918	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.11523C>T																																																																																					0.582	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		8	45	0	0	0	1	0	8	45				
TRIP11	9321	broad.mit.edu	37	14	92441051	92441051	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:92441051T>C	ENST00000267622.4	-	19	5867	c.5494A>G	c.(5494-5496)Atg>Gtg	p.M1832V		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1832					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CACCCAGTCATCCACCTGGTA	0.368			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(5494-5496)Atg>Gtg		thyroid hormone receptor interactor 11							75.0	68.0	70.0					14																	92441051		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92441051T>C	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.5494A>G	14.37:g.92441051T>C	ENSP00000267622:p.Met1832Val						p.M1832V	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	19	5867	-			1832					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.5494A>G	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.418|6.418	0.445204|0.445204	0.12164|0.12164	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000554357|ENST00000267622;ENST00000542257	.|T	.|0.03580	.|3.88	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.226336	.|0.52532	.|D	.|0.000080	T|T	0.02533|0.02533	0.0077|0.0077	N|N	0.26042|0.26042	0.785|0.785	0.39686|0.39686	D|D	0.970974|0.970974	.|B;B	.|0.20887	.|0.049;0.004	.|B;B	.|0.15484	.|0.013;0.01	T|T	0.30504|0.30504	-0.9976|-0.9976	5|10	.|0.02654	.|T	.|1	.|.	8.5569|8.5569	0.33487|0.33487	0.0:0.1131:0.0:0.8869|0.0:0.1131:0.0:0.8869	.|.	.|1568;1832	.|F5H1Z0;Q15643	.|.;TRIPB_HUMAN	G|V	1547|1832;1568	.|ENSP00000267622:M1832V	.|ENSP00000267622:M1832V	D|M	-|-	2|1	0|0	TRIP11|TRIP11	91510804|91510804	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.573000|2.573000	0.46007|0.46007	2.171000|2.171000	0.68590|0.68590	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.368	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			12	22	0	0	0	1	0	12	22				
RBMS1	5937	broad.mit.edu	37	2	161159980	161159980	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:161159980T>C	ENST00000348849.3	-	5	851	c.421A>G	c.(421-423)Acc>Gcc	p.T141A	RBMS1_ENST00000392753.3_Missense_Mutation_p.T141A|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409075.1_Missense_Mutation_p.T108A|RBMS1_ENST00000409972.1_Missense_Mutation_p.T108A|RBMS1_ENST00000409289.2_Missense_Mutation_p.T108A	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	141	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								TAGAGGTTGGTAGGATCTTGT	0.358																																						ENST00000348849.3																		PLA2R1/RBMS1(2)	0											c.(421-423)Acc>Gcc		RNA binding motif, single stranded interacting protein 1							127.0	120.0	123.0					2																	161159980		2203	4300	6503	SO:0001583	missense	5937				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding	g.chr2:161159980T>C	D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.421A>G	2.37:g.161159980T>C	ENSP00000294904:p.Thr141Ala					RBMS1_ENST00000409289.2_Missense_Mutation_p.T108A|RBMS1_ENST00000409075.1_Missense_Mutation_p.T108A|RBMS1_ENST00000392753.3_Missense_Mutation_p.T141A|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409972.1_Missense_Mutation_p.T108A	p.T141A	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN			5	851	-			141			RRM 2.		Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	ENST00000348849.3	37	c.421A>G	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	T	19.90	3.912400	0.72983	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972;ENST00000428519	T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;3.19	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.82006	0.4943	L	0.46157	1.445	0.80722	D	1	B;D;B;P;P;B;B;B	0.65815	0.2;0.995;0.05;0.829;0.947;0.2;0.011;0.05	B;P;B;D;P;B;B;B	0.67900	0.216;0.831;0.183;0.954;0.566;0.216;0.061;0.13	D	0.83865	0.0270	10	0.87932	D	0	.	15.9541	0.79871	0.0:0.0:0.0:1.0	.	108;7;141;141;7;108;108;141	D3DPB2;Q5CZ65;P29558;P29558-2;Q5CZ66;E7EPF2;E7ETU5;B4DN88	.;.;RBMS1_HUMAN;.;.;.;.;.	A	141;108;108;141;108;108	ENSP00000294904:T141A;ENSP00000386347:T108A;ENSP00000386571:T108A;ENSP00000376508:T141A;ENSP00000387280:T108A;ENSP00000389016:T108A	ENSP00000294904:T141A	T	-	1	0	RBMS1	160868226	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.163000	0.67991	0.533000	0.62120	ACC		0.358	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836		25	95	0	0	0	1	0	25	95				
PRAMEF12	390999	broad.mit.edu	37	1	12836112	12836112	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:12836112C>A	ENST00000357726.4	+	2	741	c.714C>A	c.(712-714)ttC>ttA	p.F238L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	238					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGTTCTCTTCAACATCCATG	0.517																																						ENST00000357726.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(712-714)ttC>ttA		PRAME family member 12							141.0	149.0	146.0					1																	12836112		2203	4300	6503	SO:0001583	missense	390999							g.chr1:12836112C>A		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.714C>A	1.37:g.12836112C>A	ENSP00000350358:p.Phe238Leu						p.F238L	NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	741	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	238						Missense_Mutation	SNP	ENST00000357726.4	37	c.714C>A	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	11.25	1.584024	0.28268	.	.	ENSG00000116726	ENST00000357726	T	0.00932	5.53	2.73	-1.78	0.07957	.	1.570890	0.03514	N	0.219960	T	0.00998	0.0033	L	0.27053	0.805	0.09310	N	1	P	0.36086	0.536	B	0.39068	0.289	T	0.40001	-0.9586	10	0.45353	T	0.12	.	2.6381	0.04963	0.2179:0.3413:0.0:0.4408	.	238	O95522	PRA12_HUMAN	L	238	ENSP00000350358:F238L	ENSP00000350358:F238L	F	+	3	2	PRAMEF12	12758699	0.000000	0.05858	0.000000	0.03702	0.187000	0.23431	-1.727000	0.01860	-0.426000	0.07360	0.205000	0.17691	TTC		0.517	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		36	132	1	0	4.65686e-17	1	4.89676e-17	36	132				
PLEC	5339	broad.mit.edu	37	8	145024806	145024806	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145024806G>A	ENST00000322810.4	-	1	238	c.69C>T	c.(67-69)ggC>ggT	p.G23G	PLEC_ENST00000356346.3_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	23	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCACCATCACGCCCTCGCGGA	0.701																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(67-69)ggC>ggT		plectin							8.0	10.0	10.0					8																	145024806		2077	4185	6262	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145024806G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.69C>T	8.37:g.145024806G>A						PLEC_ENST00000527096.1_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354958.2_Intron	p.G23G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			1	238	-			23			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.69C>T	CCDS43772.1																																																																																				0.701	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		6	16	0	0	0	1	0	6	16				
ATP6AP1	537	broad.mit.edu	37	X	153662660	153662660	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:153662660C>T	ENST00000369762.2	+	7	852	c.791C>T	c.(790-792)gCt>gTt	p.A264V	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	264					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AATGACACCGCTCCCCGGATC	0.577																																						ENST00000369762.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14						c.(790-792)gCt>gTt		ATPase, H+ transporting, lysosomal accessory protein 1							170.0	148.0	155.0					X																	153662660		2203	4300	6503	SO:0001583	missense	537				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chrX:153662660C>T	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.791C>T	X.37:g.153662660C>T	ENSP00000358777:p.Ala264Val						p.A264V	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN			7	852	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		264					A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	ENST00000369762.2	37	c.791C>T	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471327	0.26423	.	.	ENSG00000071553	ENST00000369762;ENST00000422890;ENST00000445849	.	.	.	5.31	-2.18	0.07037	.	0.810619	0.11553	N	0.552593	T	0.29223	0.0727	L	0.47716	1.5	0.09310	N	1	B;B	0.14805	0.004;0.011	B;B	0.16722	0.016;0.016	T	0.25117	-1.0141	9	0.25751	T	0.34	-2.3876	5.3258	0.15905	0.3452:0.4216:0.0:0.2331	.	224;264	B3KR70;Q15904	.;VAS1_HUMAN	V	264;194;88	.	ENSP00000358777:A264V	A	+	2	0	ATP6AP1	153315854	0.000000	0.05858	0.002000	0.10522	0.216000	0.24613	-0.867000	0.04241	-0.431000	0.07307	-0.344000	0.07964	GCT		0.577	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		30	113	0	0	0	1	0	30	113				
ISOC1	51015	broad.mit.edu	37	5	128440948	128440948	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:128440948C>T	ENST00000173527.5	+	3	516	c.500C>T	c.(499-501)aCg>aTg	p.T167M		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	167						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		CTTGGGAGCACGGTTCAAGAA	0.388																																						ENST00000173527.5																			0				kidney(2)|lung(7)	9						c.(499-501)aCg>aTg		isochorismatase domain containing 1							96.0	89.0	91.0					5																	128440948		1898	4136	6034	SO:0001583	missense	51015					peroxisome	catalytic activity	g.chr5:128440948C>T	AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.500C>T	5.37:g.128440948C>T	ENSP00000173527:p.Thr167Met						p.T167M	NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)	3	516	+		all_cancers(142;0.0813)|Prostate(80;0.0865)	167					Q7Z770	Missense_Mutation	SNP	ENST00000173527.5	37	c.500C>T	CCDS43357.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422216	0.83559	.	.	ENSG00000066583	ENST00000506986;ENST00000514194;ENST00000173527;ENST00000513879	.	.	.	4.86	4.86	0.63082	Isochorismatase-like (3);	0.000000	0.85682	D	0.000000	D	0.87164	0.6109	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90595	0.4540	8	.	.	.	-19.4984	18.567	0.91120	0.0:1.0:0.0:0.0	.	167	Q96CN7	ISOC1_HUMAN	M	146;158;167;158	.	.	T	+	2	0	ISOC1	128468847	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	6.887000	0.75616	2.709000	0.92574	0.655000	0.94253	ACG		0.388	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371826.1	NM_016048		17	55	0	0	0	1	0	17	55				
DNM3	26052	broad.mit.edu	37	1	171956897	171956897	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:171956897A>G	ENST00000355305.5	+	3	494	c.337A>G	c.(337-339)Aaa>Gaa	p.K113E	DNM3_ENST00000367731.1_Missense_Mutation_p.K113E|DNM3_ENST00000367733.2_Missense_Mutation_p.K113E|DNM3_ENST00000520906.1_Missense_Mutation_p.K113E|DNM3_ENST00000358155.4_Missense_Mutation_p.K113E			Q9UQ16	DYN3_HUMAN	dynamin 3	113	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGGAATGAATAAAGGCATTTC	0.353																																						ENST00000358155.4																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(337-339)Aaa>Gaa		dynamin 3							138.0	148.0	145.0					1																	171956897		1856	4094	5950	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:171956897A>G	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.337A>G	1.37:g.171956897A>G	ENSP00000347457:p.Lys113Glu					DNM3_ENST00000520906.1_Missense_Mutation_p.K113E|DNM3_ENST00000367733.2_Missense_Mutation_p.K113E|DNM3_ENST00000355305.5_Missense_Mutation_p.K113E|DNM3_ENST00000367731.1_Missense_Mutation_p.K113E	p.K113E	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN			3	513	+			113					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.337A>G		.	.	.	.	.	.	.	.	.	.	A	22.0	4.224868	0.79576	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	D;D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18;-4.18	5.16	2.72	0.32119	.	0.052467	0.64402	D	0.000001	D	0.96852	0.8972	M	0.84846	2.72	0.51767	D	0.999939	D;D;D;D	0.76494	0.998;0.974;0.997;0.999	D;P;D;D	0.69654	0.965;0.511;0.957;0.965	D	0.95784	0.8819	10	0.87932	D	0	.	7.3049	0.26443	0.7051:0.1508:0.0:0.1441	.	113;113;113;113	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	E	113;113;113;113;113;113;3	ENSP00000350876:K113E;ENSP00000356707:K113E;ENSP00000347457:K113E;ENSP00000356705:K113E;ENSP00000429701:K113E;ENSP00000429416:K3E	ENSP00000347457:K113E	K	+	1	0	DNM3	170223520	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	9.210000	0.95106	0.247000	0.21414	0.533000	0.62120	AAA		0.353	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		6	188	0	0	0	1	0	6	188				
SUDS3	64426	broad.mit.edu	37	12	118841279	118841279	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:118841279G>A	ENST00000543473.1	+	10	1072	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	SUDS3_ENST00000397564.2_Missense_Mutation_p.E255K|SUDS3_ENST00000541280.1_3'UTR	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	254					apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAGAGGTTCGAAGCTCGGAT	0.463																																						ENST00000543473.1																			0				breast(1)|lung(1)	2						c.(760-762)Gaa>Aaa		suppressor of defective silencing 3 homolog (S. cerevisiae)							50.0	49.0	49.0					12																	118841279		1937	4139	6076	SO:0001583	missense	64426				chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding	g.chr12:118841279G>A	AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"""sin3A-associated protein, 45kDa"""	608250	"""suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"""			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.760G>A	12.37:g.118841279G>A	ENSP00000443988:p.Glu254Lys					SUDS3_ENST00000541280.1_3'UTR|SUDS3_ENST00000397564.2_Missense_Mutation_p.E255K	p.E254K	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN			10	1072	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		254					Q4KMQ5|Q8N6H0|Q9H8D2	Missense_Mutation	SNP	ENST00000543473.1	37	c.760G>A	CCDS44993.1	.	.	.	.	.	.	.	.	.	.	G	36	5.608737	0.96626	.	.	ENSG00000111707	ENST00000543473;ENST00000397564	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.77432	0.4129	M	0.68317	2.08	0.80722	D	1	D	0.63046	0.992	D	0.65443	0.935	T	0.78966	-0.1995	9	0.66056	D	0.02	-13.6298	18.5243	0.90965	0.0:0.0:1.0:0.0	.	254	Q9H7L9	SDS3_HUMAN	K	254;255	.	ENSP00000380695:E255K	E	+	1	0	SUDS3	117325662	1.000000	0.71417	0.995000	0.50966	0.948000	0.59901	8.526000	0.90588	2.691000	0.91804	0.655000	0.94253	GAA		0.463	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401504.1	NM_022491		4	31	0	0	0	1	0	4	31				
FSCB	84075	broad.mit.edu	37	14	44975760	44975760	+	Missense_Mutation	SNP	T	T	C	rs34582231	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:44975760T>C	ENST00000340446.4	-	1	722	c.431A>G	c.(430-432)aAc>aGc	p.N144S	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	144						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGGGGGGATGTTCATCATGGT	0.413													T|||	23	0.00459265	0.0174	0.0	5008	,	,		19394	0.0		0.0	False		,,,				2504	0.0					ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(430-432)aAc>aGc		fibrous sheath CABYR binding protein		T	SER/ASN	43,4363	46.0+/-80.4	1,41,2161	200.0	201.0	201.0		431	-0.2	0.0	14	dbSNP_126	201	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FSCB	NM_032135.3	46	1,42,6460	CC,CT,TT		0.0116,0.9759,0.3383	benign	144/826	44975760	44,12962	2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975760T>C	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.431A>G	14.37:g.44975760T>C	ENSP00000344579:p.Asn144Ser						p.N144S	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	722	-			144					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.431A>G	CCDS9679.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	9.198	1.027642	0.19512	0.009759	1.16E-4	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.20200	2.09	5.26	-0.206	0.13193	.	.	.	.	.	T	0.07999	0.0200	L	0.27053	0.805	0.09310	N	1	B	0.29590	0.25	B	0.29785	0.107	T	0.30208	-0.9986	9	0.31617	T	0.26	0.1545	2.138	0.03767	0.1282:0.1443:0.1331:0.5945	rs34582231	144	Q5H9T9	FSCB_HUMAN	S	144	ENSP00000344579:N144S	ENSP00000344579:N144S	N	-	2	0	FSCB	44045510	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	0.315000	0.19451	-0.196000	0.10366	-0.313000	0.08912	AAC		0.413	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		18	243	0	0	0	1	0	18	243				
UBAP2L	9898	broad.mit.edu	37	1	154223759	154223759	+	Nonsense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:154223759A>T	ENST00000361546.2	+	12	1498	c.1456A>T	c.(1456-1458)Aaa>Taa	p.K486*	UBAP2L_ENST00000271877.7_Nonsense_Mutation_p.K497*|UBAP2L_ENST00000343815.6_Nonsense_Mutation_p.K486*|UBAP2L_ENST00000428931.1_Nonsense_Mutation_p.K486*			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	486					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCAGAAACTGAAACAGCAGAA	0.473																																						ENST00000428931.1																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50						c.(1456-1458)Aaa>Taa		ubiquitin associated protein 2-like							58.0	63.0	62.0					1																	154223759		2203	4300	6503	SO:0001587	stop_gained	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154223759A>T	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1456A>T	1.37:g.154223759A>T	ENSP00000355343:p.Lys486*					UBAP2L_ENST00000271877.7_Nonsense_Mutation_p.K497*|UBAP2L_ENST00000361546.2_Nonsense_Mutation_p.K486*|UBAP2L_ENST00000343815.6_Nonsense_Mutation_p.K486*	p.K486*	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		13	1623	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		486					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Nonsense_Mutation	SNP	ENST00000361546.2	37	c.1456A>T	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	A	37	6.299910	0.97453	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000271877;ENST00000361546	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9233	15.2098	0.73214	1.0:0.0:0.0:0.0	.	.	.	.	X	486;486;497;486	.	ENSP00000271877:K497X	K	+	1	0	UBAP2L	152490383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.452000	0.90346	2.371000	0.80710	0.533000	0.62120	AAA		0.473	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		27	96	0	0	0	1	0	27	96				
OR4K17	390436	broad.mit.edu	37	14	20586438	20586438	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:20586438G>A	ENST00000315543.4	+	1	873	c.873G>A	c.(871-873)tgG>tgA	p.W291*		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCTACATTTGGCCCTTCGGCA	0.423																																						ENST00000315543.4																			0				kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(871-873)tgG>tgA		olfactory receptor, family 4, subfamily K, member 17							102.0	93.0	96.0					14																	20586438		2203	4300	6503	SO:0001587	stop_gained	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586438G>A		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.873G>A	14.37:g.20586438G>A	ENSP00000319197:p.Trp291*						p.W291*	NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	873	+	all_cancers(95;0.00108)		263					Q6IF12	Nonsense_Mutation	SNP	ENST00000315543.4	37	c.873G>A	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	6.618	0.482488	0.12581	.	.	ENSG00000176230	ENST00000315543	.	.	.	2.84	1.8	0.24995	.	0.821640	0.09935	U	0.736761	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.8742	0.05626	0.2663:0.2556:0.4781:0.0	.	.	.	.	X	291	.	ENSP00000319197:W291X	W	+	3	0	OR4K17	19656278	0.000000	0.05858	0.237000	0.24090	0.027000	0.11550	-1.084000	0.03393	1.569000	0.49696	0.390000	0.25778	TGG		0.423	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			18	68	0	0	0	1	0	18	68				
BCKDHA	593	broad.mit.edu	37	19	41931841	41931841	+	IGR	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:41931841C>A	ENST00000269980.2	+	0	2103				CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000321702.2_Missense_Mutation_p.M281I|B3GNT8_ENST00000601379.1_5'Flank	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						TCCGGAGAGGCATGGCCTGGG	0.642																																						ENST00000321702.2																			0				cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						c.(841-843)atG>atT		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8							29.0	31.0	31.0					19																	41931841		2203	4300	6503	SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41931841C>A	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41931841C>A						CTC-435M10.6_ENST00000598887.1_RNA	p.M281I	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN			3	1296	-			281					B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	c.843G>T	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	C	2.862	-0.235868	0.05944	.	.	ENSG00000177191	ENST00000321702	T	0.41065	1.01	3.81	-4.37	0.03633	.	1.957570	0.02289	N	0.070060	T	0.20251	0.0487	N	0.04090	-0.28	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.16630	-1.0396	10	0.34782	T	0.22	.	6.9549	0.24565	0.0:0.2924:0.1283:0.5793	.	281	Q7Z7M8	B3GN8_HUMAN	I	281	ENSP00000312700:M281I	ENSP00000312700:M281I	M	-	3	0	B3GNT8	46623681	0.000000	0.05858	0.673000	0.29887	0.607000	0.37147	-0.578000	0.05841	-0.650000	0.05423	-0.302000	0.09304	ATG		0.642	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		15	52	1	0	1.3612e-06	1	1.39554e-06	15	52				
OR13D1	286365	broad.mit.edu	37	9	107457096	107457096	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:107457096C>T	ENST00000318763.5	+	1	437	c.394C>T	c.(394-396)Cag>Tag	p.Q132*		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CTGTGCTCTGCAGATGGTTGT	0.483																																						ENST00000318763.5																			0				large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						c.(394-396)Cag>Tag		olfactory receptor, family 13, subfamily D, member 1							168.0	164.0	165.0					9																	107457096		2203	4300	6503	SO:0001587	stop_gained	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107457096C>T		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.394C>T	9.37:g.107457096C>T	ENSP00000317357:p.Gln132*						p.Q132*	NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN			1	437	+			132					B9EIS1|Q6IFL1	Nonsense_Mutation	SNP	ENST00000318763.5	37	c.394C>T	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172884	0.38413	.	.	ENSG00000179055	ENST00000318763	.	.	.	3.75	3.75	0.43078	.	0.000000	0.48767	D	0.000176	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.0659	0.59032	0.0:1.0:0.0:0.0	.	.	.	.	X	132	.	ENSP00000317357:Q132X	Q	+	1	0	OR13D1	106496917	1.000000	0.71417	0.130000	0.21974	0.011000	0.07611	5.520000	0.67080	1.917000	0.55516	0.609000	0.83330	CAG		0.483	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			8	254	0	0	0	1	0	8	254				
PKP2	5318	broad.mit.edu	37	12	33021956	33021956	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:33021956T>C	ENST00000070846.6	-	4	1099	c.1075A>G	c.(1075-1077)Atg>Gtg	p.M359V	PKP2_ENST00000340811.4_Missense_Mutation_p.M359V	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	359					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GCCTCGAGCATACTCACTGCT	0.527																																						ENST00000340811.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(1075-1077)Atg>Gtg		plakophilin 2							124.0	104.0	111.0					12																	33021956		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33021956T>C	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1075A>G	12.37:g.33021956T>C	ENSP00000070846:p.Met359Val					PKP2_ENST00000070846.6_Missense_Mutation_p.M359V	p.M359V	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN			4	1183	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		359					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.1075A>G	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	T	5.504	0.277920	0.10403	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.49139	0.79;0.79	5.09	-0.8	0.10897	Armadillo-like helical (1);Armadillo-type fold (1);	0.378653	0.28465	N	0.015244	T	0.35799	0.0944	L	0.53249	1.67	0.26031	N	0.981734	B;B;B	0.14805	0.001;0.001;0.011	B;B;B	0.09377	0.004;0.002;0.003	T	0.25710	-1.0124	10	0.52906	T	0.07	-13.3949	6.0269	0.19660	0.2671:0.0:0.2778:0.4551	.	359;359;359	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	V	359	ENSP00000342800:M359V;ENSP00000070846:M359V	ENSP00000070846:M359V	M	-	1	0	PKP2	32913223	0.123000	0.22298	0.345000	0.25642	0.138000	0.21146	0.177000	0.16801	-0.056000	0.13221	-0.321000	0.08615	ATG		0.527	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		4	188	0	0	0	1	0	4	188				
COL2A1	1280	broad.mit.edu	37	12	48369218	48369218	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:48369218A>G	ENST00000380518.3	-	51	3932	c.3768T>C	c.(3766-3768)gaT>gaC	p.D1256D	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.D1187D	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1256	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGAGTGTGGCATCCACCTCGG	0.642																																						ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(3766-3768)gaT>gaC		collagen, type II, alpha 1	Collagenase(DB00048)						91.0	81.0	85.0					12																	48369218		2203	4300	6503	SO:0001819	synonymous_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48369218A>G	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3768T>C	12.37:g.48369218A>G						COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.D1187D	p.D1256D	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			51	3932	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	1256			Fibrillar collagen NC1.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	c.3768T>C	CCDS41778.1																																																																																				0.642	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		10	128	0	0	0	1	0	10	128				
SLC35B2	347734	broad.mit.edu	37	6	44224080	44224080	+	Splice_Site	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:44224080T>A	ENST00000393812.3	-	3	502	c.359A>T	c.(358-360)cAg>cTg	p.Q120L	SLC35B2_ENST00000393810.1_Intron|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000538577.1_Intron|MIR4647_ENST00000583964.1_RNA	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	120					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCTACCCACCTGGAGCCCTGT	0.617																																						ENST00000393812.3																			0				breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15						c.e3+1		solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2							81.0	93.0	89.0					6																	44224080		2203	4300	6503	SO:0001630	splice_region_variant	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44224080T>A	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.360+1A>T	6.37:g.44224080T>A						SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Intron|SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000393810.1_Intron	p.Q120_splice	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	502	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		120					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Splice_Site	SNP	ENST00000393812.3	37	c.360_splice	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.181301	0.78677	.	.	ENSG00000157593	ENST00000393812;ENST00000341553	T	0.26957	1.7	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.22322	0.0538	L	0.56280	1.765	0.80722	D	1	P	0.46064	0.872	P	0.54706	0.759	T	0.04140	-1.0974	10	0.11485	T	0.65	-16.627	13.5717	0.61851	0.0:0.0:0.0:1.0	.	120	Q8TB61	S35B2_HUMAN	L	120	ENSP00000377401:Q120L	ENSP00000342455:Q120L	Q	-	2	0	SLC35B2	44332058	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	5.894000	0.69806	1.780000	0.52325	0.459000	0.35465	CAG		0.617	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2		Missense_Mutation	23	210	0	0	0	1	0	23	210				
KRT75	9119	broad.mit.edu	37	12	52825376	52825376	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52825376A>G	ENST00000252245.5	-	4	1041	c.821T>C	c.(820-822)gTc>gCc	p.V274A		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	274	Coil 1B.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CAGAGATTTGACCTTGGCTTC	0.498																																						ENST00000252245.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(820-822)gTc>gCc		keratin 75							185.0	159.0	168.0					12																	52825376		2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52825376A>G	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.821T>C	12.37:g.52825376A>G	ENSP00000252245:p.Val274Ala						p.V274A	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	4	1041	-			274			Coil 1B.|Rod.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.821T>C	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	A	13.11	2.139477	0.37728	.	.	ENSG00000170454	ENST00000252245	D	0.89552	-2.53	5.95	4.81	0.61882	Filament (1);	0.131866	0.33753	N	0.004599	D	0.83308	0.5226	L	0.41079	1.255	0.23716	N	0.997033	B	0.16802	0.019	B	0.23150	0.044	T	0.70208	-0.4935	10	0.30854	T	0.27	.	10.0078	0.41968	0.924:0.0:0.076:0.0	.	274	O95678	K2C75_HUMAN	A	274	ENSP00000252245:V274A	ENSP00000252245:V274A	V	-	2	0	KRT75	51111643	0.012000	0.17670	0.988000	0.46212	0.771000	0.43674	2.631000	0.46502	1.076000	0.40961	0.533000	0.62120	GTC		0.498	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		28	118	0	0	0	1	0	28	118				
KIAA0196	9897	broad.mit.edu	37	8	126059447	126059447	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:126059447A>G	ENST00000318410.7	-	20	2854		c.e20+1		KIAA0196_ENST00000517845.1_Splice_Site|KIAA0196-AS1_ENST00000519140.1_RNA	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196						cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGGTACACCTACTTTGGGTCT	0.517																																						ENST00000318410.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.e20+1		KIAA0196							103.0	102.0	102.0					8																	126059447		2203	4300	6503	SO:0001630	splice_region_variant	9897				cell death	WASH complex		g.chr8:126059447A>G		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2504+1T>C	8.37:g.126059447A>G						KIAA0196_ENST00000517845.1_Splice_Site		NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		20	2854	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)							A8K4R7|Q3KQX5|Q8TBQ2	Splice_Site	SNP	ENST00000318410.7	37		CCDS6355.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.226874	0.58668	.	.	ENSG00000164961	ENST00000318410;ENST00000517845;ENST00000523273	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.82	0.78633	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0196	126128629	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	7.562000	0.82300	2.155000	0.67459	0.459000	0.35465	.		0.517	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846	Intron	17	75	0	0	0	1	0	17	75				
MAZ	4150	broad.mit.edu	37	16	29820065	29820065	+	Intron	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:29820065A>G	ENST00000322945.6	+	4	1444				MAZ_ENST00000568282.1_Intron|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000569978.1_Missense_Mutation_p.T29A|MAZ_ENST00000562337.1_Intron|AC009133.14_ENST00000569981.1_RNA|AC009133.20_ENST00000569039.1_RNA|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000568544.1_Intron|MAZ_ENST00000219782.6_Intron|MAZ_ENST00000566906.2_Intron|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000545521.1_Intron	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CAACAAAGGTACATGCCGAGG	0.607																																					Colon(72;875 1167 15364 30899 37091)	ENST00000569978.1																			0				endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(85-87)Aca>Gca		MYC-associated zinc finger protein (purine-binding transcription factor)							34.0	36.0	35.0					16																	29820065		2051	4181	6232	SO:0001627	intron_variant	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29820065A>G	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1279+3A>G	16.37:g.29820065A>G						MAZ_ENST00000322945.6_Intron|MAZ_ENST00000563402.1_Intron|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000568282.1_Intron|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000568544.1_Intron|MAZ_ENST00000219782.6_Intron|MAZ_ENST00000562337.1_Intron|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000545521.1_Intron	p.T29A			P56270	MAZ_HUMAN			2	376	+			428					A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	ENST00000322945.6	37	c.85A>G	CCDS42143.1																																																																																				0.607	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		5	29	0	0	0	1	0	5	29				
FBXL8	55336	broad.mit.edu	37	16	67197515	67197515	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67197515T>C	ENST00000258200.3	+	3	1094	c.917T>C	c.(916-918)cTc>cCc	p.L306P	HSF4_ENST00000521374.1_5'Flank|HSF4_ENST00000584272.1_5'Flank|HSF4_ENST00000421453.1_5'UTR|FBXL8_ENST00000519917.1_Missense_Mutation_p.L306P|RP11-5A19.5_ENST00000518227.1_5'Flank|HSF4_ENST00000264009.8_5'UTR			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	306										endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		CTGTGCGCGCTCGAGGTGCGC	0.721																																						ENST00000258200.3																			0				endometrium(1)	1						c.(916-918)cTc>cCc		F-box and leucine-rich repeat protein 8							4.0	5.0	5.0					16																	67197515		1760	3659	5419	SO:0001583	missense	55336						protein binding	g.chr16:67197515T>C	AK002140	CCDS10831.1	16q22.1-q22.3	2013-01-22			ENSG00000135722	ENSG00000135722		"""F-boxes / Leucine-rich repeats"""	17875	protein-coding gene	gene with protein product		609077					Standard	NM_018378		Approved	Fbl8	uc002erk.1	Q96CD0	OTTHUMG00000137514	ENST00000258200.3:c.917T>C	16.37:g.67197515T>C	ENSP00000258200:p.Leu306Pro					HSF4_ENST00000264009.8_5'UTR|RP11-5A19.5_ENST00000580114.1_Silent_p.A76A|HSF4_ENST00000421453.1_5'UTR|FBXL8_ENST00000519917.1_Missense_Mutation_p.L306P	p.L306P			Q96CD0	FBXL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)	3	1094	+		Ovarian(137;0.0563)	306					Q9NUM0	Missense_Mutation	SNP	ENST00000258200.3	37	c.917T>C	CCDS10831.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233709	0.58886	.	.	ENSG00000135722	ENST00000258200;ENST00000519917	.	.	.	4.76	4.76	0.60689	.	0.000000	0.48767	D	0.000180	T	0.69088	0.3072	M	0.63843	1.955	0.80722	D	1	D	0.69078	0.997	P	0.60236	0.871	T	0.73272	-0.4035	9	0.87932	D	0	-14.7699	13.0859	0.59140	0.0:0.0:0.0:1.0	.	306	Q96CD0	FBXL8_HUMAN	P	306	.	ENSP00000258200:L306P	L	+	2	0	FBXL8	65755016	0.888000	0.30383	0.173000	0.22940	0.226000	0.24999	4.742000	0.62103	1.775000	0.52247	0.379000	0.24179	CTC		0.721	FBXL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268834.2			8	15	0	0	0	1	0	8	15				
KIF26B	55083	broad.mit.edu	37	1	245851965	245851965	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:245851965G>A	ENST00000407071.2	+	12	6120	c.5680G>A	c.(5680-5682)Ggc>Agc	p.G1894S	KIF26B_ENST00000366518.4_Missense_Mutation_p.G1513S	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1894					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCACAGCGGCGGCAGCAGCGG	0.721																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4537-4539)Ggc>Agc		kinesin family member 26B							7.0	9.0	8.0					1																	245851965		1762	3684	5446	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245851965G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.5680G>A	1.37:g.245851965G>A	ENSP00000385545:p.Gly1894Ser					KIF26B_ENST00000407071.2_Missense_Mutation_p.G1894S	p.G1513S			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	4641	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1894					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.4537G>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950701	0.92660	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.83837	-1.77;-1.77	5.18	5.18	0.71444	.	.	.	.	.	D	0.91938	0.7447	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92942	0.6373	9	0.72032	D	0.01	.	18.6823	0.91551	0.0:0.0:1.0:0.0	.	1513;1894	B7WPD9;Q2KJY2	.;KI26B_HUMAN	S	1894;1513;1510	ENSP00000385545:G1894S;ENSP00000355475:G1513S	ENSP00000355475:G1513S	G	+	1	0	KIF26B	243918588	1.000000	0.71417	0.985000	0.45067	0.986000	0.74619	9.616000	0.98359	2.409000	0.81822	0.462000	0.41574	GGC		0.721	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		3	23	0	0	0	1	0	3	23				
MKI67	4288	broad.mit.edu	37	10	129905653	129905653	+	Missense_Mutation	SNP	G	G	A	rs201511902		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:129905653G>A	ENST00000368654.3	-	13	4826	c.4451C>T	c.(4450-4452)aCg>aTg	p.T1484M	MKI67_ENST00000368653.3_Missense_Mutation_p.T1124M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1484	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)				CTCGTGAGTCGTGGGCTTGTC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		18311	0.001		0.0	False		,,,				2504	0.0					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.(4450-4452)aCg>aTg		marker of proliferation Ki-67		G	MET/THR,MET/THR	0,4406		0,0,2203	298.0	279.0	286.0		3371,4451	-3.6	0.0	10		286	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MKI67	NM_001145966.1,NM_002417.4	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1124/2897,1484/3257	129905653	1,13005	2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905653G>A	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.4451C>T	10.37:g.129905653G>A	ENSP00000357643:p.Thr1484Met					MKI67_ENST00000368653.3_Missense_Mutation_p.T1124M	p.T1484M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	4826	-		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)	1484			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.4451C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316648	0.23908	0.0	1.16E-4	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01422	4.97;4.91	3.46	-3.61	0.04556	.	1.647390	0.03719	N	0.251441	T	0.01029	0.0034	N	0.04355	-0.22	0.09310	N	1	B;P;D	0.65815	0.229;0.68;0.995	B;B;P	0.48063	0.015;0.069;0.565	T	0.30851	-0.9964	10	0.41790	T	0.15	.	1.6421	0.02754	0.2165:0.2918:0.3478:0.1439	.	1483;1124;1484	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	1484;1124;1483	ENSP00000357643:T1484M;ENSP00000357642:T1124M	ENSP00000357642:T1124M	T	-	2	0	MKI67	129795643	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.037000	0.12164	-0.588000	0.05882	-0.258000	0.10820	ACG		0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		109	351	0	0	0	1	0	109	351				
ZNF445	353274	broad.mit.edu	37	3	44488161	44488161	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:44488161G>A	ENST00000396077.2	-	8	3349	c.3002C>T	c.(3001-3003)aCt>aTt	p.T1001I	ZNF445_ENST00000425708.2_Missense_Mutation_p.T1001I	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	1001					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CCTCTCTCGAGTATGAAATCT	0.443																																						ENST00000425708.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(3001-3003)aCt>aTt		zinc finger protein 445							137.0	135.0	136.0					3																	44488161		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44488161G>A	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.3002C>T	3.37:g.44488161G>A	ENSP00000379387:p.Thr1001Ile					ZNF445_ENST00000396077.2_Missense_Mutation_p.T1001I	p.T1001I			P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	7	3343	-			1001					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.3002C>T	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212456	0.79240	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.33865	1.39;1.39	4.47	4.47	0.54385	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000072	T	0.58192	0.2105	M	0.67625	2.065	0.37400	D	0.912811	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.65602	-0.6128	10	0.87932	D	0	.	15.4576	0.75327	0.0:0.0:1.0:0.0	.	989;1001	B7ZKX2;P59923	.;ZN445_HUMAN	I	1001	ENSP00000413073:T1001I;ENSP00000379387:T1001I	ENSP00000379387:T1001I	T	-	2	0	ZNF445	44463165	0.997000	0.39634	0.331000	0.25455	0.997000	0.91878	3.101000	0.50283	2.774000	0.95407	0.650000	0.86243	ACT		0.443	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		5	182	0	0	0	1	0	5	182				
THNSL2	55258	broad.mit.edu	37	2	88472781	88472781	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:88472781T>C	ENST00000324166.5	+	1	1803	c.112T>C	c.(112-114)Ttg>Ctg	p.L38L	THNSL2_ENST00000377254.3_Silent_p.L38L|THNSL2_ENST00000343544.4_Silent_p.L38L|THNSL2_ENST00000402102.1_Silent_p.L38L|THNSL2_ENST00000358591.2_Silent_p.L38L|THNSL2_ENST00000449349.1_Silent_p.L6L	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	38					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GCTCCCACAGTTGGACAGAGG	0.597																																						ENST00000324166.5																			0				breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(112-114)Ttg>Ctg		threonine synthase-like 2 (S. cerevisiae)							73.0	73.0	73.0					2																	88472781		2203	4300	6503	SO:0001819	synonymous_variant	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88472781T>C		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.112T>C	2.37:g.88472781T>C						THNSL2_ENST00000358591.2_Silent_p.L38L|THNSL2_ENST00000402102.1_Silent_p.L38L|THNSL2_ENST00000377254.3_Silent_p.L38L|THNSL2_ENST00000449349.1_Silent_p.L6L|THNSL2_ENST00000343544.4_Silent_p.L38L	p.L38L	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN			1	1803	+			38					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	ENST00000324166.5	37	c.112T>C	CCDS2002.2																																																																																				0.597	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		29	73	0	0	0	1	0	29	73				
LCT	3938	broad.mit.edu	37	2	136566157	136566157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:136566157G>A	ENST00000264162.2	-	8	3770	c.3760C>T	c.(3760-3762)Cga>Tga	p.R1254*	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1254	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AGCAGCCTTCGCGTCCCCCAG	0.572																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(3760-3762)Cga>Tga		lactase							155.0	130.0	138.0					2																	136566157		2203	4300	6503	SO:0001587	stop_gained	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566157G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3760C>T	2.37:g.136566157G>A	ENSP00000264162:p.Arg1254*						p.R1254*	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3770	-			1254			4 X approximate repeats.		Q4ZG58	Nonsense_Mutation	SNP	ENST00000264162.2	37	c.3760C>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	35	5.431906	0.96150	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	.	.	.	5.76	2.51	0.30379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.0439	16.5805	0.84713	0.0:0.0:0.5984:0.4016	.	.	.	.	X	1254;686	.	ENSP00000264162:R1254X	R	-	1	2	LCT	136282627	0.798000	0.28890	0.227000	0.23927	0.791000	0.44710	1.047000	0.30367	0.695000	0.31675	0.563000	0.77884	CGA		0.572	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		33	116	0	0	0	1	0	33	116				
ZNF622	90441	broad.mit.edu	37	5	16465396	16465396	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:16465396C>T	ENST00000308683.2	-	1	505	c.379G>A	c.(379-381)Gcc>Acc	p.A127T		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	127					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GCGTTCATGGCATCCTTGTCC	0.587																																						ENST00000308683.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(379-381)Gcc>Acc		zinc finger protein 622							159.0	145.0	150.0					5																	16465396		2203	4300	6503	SO:0001583	missense	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16465396C>T	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.379G>A	5.37:g.16465396C>T	ENSP00000310042:p.Ala127Thr						p.A127T	NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN			1	505	-			127						Missense_Mutation	SNP	ENST00000308683.2	37	c.379G>A	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098987	0.76870	.	.	ENSG00000173545	ENST00000308683	.	.	.	4.88	3.06	0.35304	.	0.157976	0.56097	D	0.000032	T	0.56746	0.2006	M	0.75264	2.295	0.52501	D	0.99995	B	0.11235	0.004	B	0.08055	0.003	T	0.49234	-0.8961	9	0.17369	T	0.5	-2.0101	9.5047	0.39040	0.1425:0.7833:0.0:0.0743	.	127	Q969S3	ZN622_HUMAN	T	127	.	ENSP00000310042:A127T	A	-	1	0	ZNF622	16518396	1.000000	0.71417	0.677000	0.29947	0.987000	0.75469	3.871000	0.56077	0.614000	0.30107	0.650000	0.86243	GCC		0.587	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		33	110	0	0	0	1	0	33	110				
AHNAK	79026	broad.mit.edu	37	11	62290595	62290595	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:62290595A>G	ENST00000378024.4	-	5	11568	c.11294T>C	c.(11293-11295)gTt>gCt	p.V3765A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3765					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGCAGAGAAACATCCACATC	0.468																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(11293-11295)gTt>gCt		AHNAK nucleoprotein							143.0	145.0	144.0					11																	62290595		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62290595A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11294T>C	11.37:g.62290595A>G	ENSP00000367263:p.Val3765Ala					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.V3765A	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	11568	-		Melanoma(852;0.155)	3765					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.11294T>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	15.46	2.839612	0.51057	.	.	ENSG00000124942	ENST00000378024	T	0.01228	5.14	5.33	5.33	0.75918	.	0.654072	0.12482	N	0.465036	T	0.04407	0.0121	M	0.76838	2.35	0.23827	N	0.996739	P	0.34684	0.463	B	0.41374	0.355	T	0.28522	-1.0041	10	0.31617	T	0.26	-13.008	13.5317	0.61625	1.0:0.0:0.0:0.0	.	3765	Q09666	AHNK_HUMAN	A	3765	ENSP00000367263:V3765A	ENSP00000367263:V3765A	V	-	2	0	AHNAK	62047171	0.891000	0.30450	0.012000	0.15200	0.006000	0.05464	-0.028000	0.12350	2.016000	0.59253	0.472000	0.43445	GTT		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	281	0	0	0	1	0	8	281				
ZNF205	7755	broad.mit.edu	37	16	3169916	3169916	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3169916C>T	ENST00000382192.3	+	7	1460	c.1255C>T	c.(1255-1257)Ccg>Tcg	p.P419S	RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.P419S|RP11-473M20.14_ENST00000575139.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	419					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GGGCGCCAAGCCGCACAAGTG	0.682																																						ENST00000382192.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(1255-1257)Ccg>Tcg		zinc finger protein 205							43.0	46.0	45.0					16																	3169916		2197	4299	6496	SO:0001583	missense	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3169916C>T	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.1255C>T	16.37:g.3169916C>T	ENSP00000371627:p.Pro419Ser					ZNF205_ENST00000219091.4_Missense_Mutation_p.P419S|RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA	p.P419S	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN			7	1460	+			419					A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	ENST00000382192.3	37	c.1255C>T	CCDS10494.2	.	.	.	.	.	.	.	.	.	.	C	15.85	2.956299	0.53293	.	.	ENSG00000122386	ENST00000382192;ENST00000219091	T;T	0.28454	1.61;1.61	5.54	5.54	0.83059	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000264	T	0.45677	0.1354	L	0.28400	0.85	0.43540	D	0.995835	D	0.89917	1.0	D	0.87578	0.998	T	0.43228	-0.9404	10	0.87932	D	0	-35.939	16.9785	0.86321	0.0:1.0:0.0:0.0	.	419	O95201	ZN205_HUMAN	S	419	ENSP00000371627:P419S;ENSP00000219091:P419S	ENSP00000219091:P419S	P	+	1	0	ZNF205	3109917	0.997000	0.39634	1.000000	0.80357	0.989000	0.77384	3.816000	0.55658	2.604000	0.88044	0.561000	0.74099	CCG		0.682	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1	NM_003456		34	129	0	0	0	1	0	34	129				
GMIP	51291	broad.mit.edu	37	19	19744755	19744755	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:19744755G>T	ENST00000203556.4	-	19	2466	c.2329C>A	c.(2329-2331)Cct>Act	p.P777T	GMIP_ENST00000445806.2_Missense_Mutation_p.P748T|GMIP_ENST00000587238.1_Missense_Mutation_p.P751T|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	777	Pro-rich.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						aggggcccaggggctgggctg	0.672																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(2329-2331)Cct>Act		GEM interacting protein							13.0	16.0	15.0					19																	19744755		2197	4295	6492	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19744755G>T	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.2329C>A	19.37:g.19744755G>T	ENSP00000203556:p.Pro777Thr					GMIP_ENST00000445806.2_Missense_Mutation_p.P748T|GMIP_ENST00000587238.1_Missense_Mutation_p.P751T	p.P777T	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			19	2466	-			777			Pro-rich.		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.2329C>A	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420697	0.42918	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.23147	1.94;1.92	4.34	2.17	0.27698	.	0.000000	0.43260	D	0.000599	T	0.29389	0.0732	L	0.60455	1.87	0.09310	N	1	D;D;P	0.57257	0.979;0.979;0.675	P;P;B	0.54270	0.747;0.702;0.091	T	0.11743	-1.0575	10	0.15066	T	0.55	-1.7648	5.3932	0.16255	0.104:0.0:0.6977:0.1983	.	748;751;777	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	T	777;748	ENSP00000203556:P777T;ENSP00000397075:P748T	ENSP00000203556:P777T	P	-	1	0	GMIP	19605755	0.998000	0.40836	0.009000	0.14445	0.022000	0.10575	3.248000	0.51430	0.565000	0.29255	0.591000	0.81541	CCT		0.672	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		9	18	1	0	3.86212e-05	1	3.93362e-05	9	18				
CSPP1	79848	broad.mit.edu	37	8	68089926	68089926	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:68089926G>A	ENST00000262210.5	+	25	3137	c.3106G>A	c.(3106-3108)Gcc>Acc	p.A1036T	CSPP1_ENST00000412460.1_Missense_Mutation_p.A691T|ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1071					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGACTTAGATGCCATCCCAAG	0.313																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(3106-3108)Gcc>Acc		centrosome and spindle pole associated protein 1							123.0	121.0	122.0					8																	68089926		1825	4075	5900	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68089926G>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.3106G>A	8.37:g.68089926G>A	ENSP00000262210:p.Ala1036Thr					CSPP1_ENST00000412460.1_Missense_Mutation_p.A691T|CSPP1_ENST00000521168.1_3'UTR|ARFGEF1_ENST00000520381.1_Intron	p.A1036T	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		25	3137	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1071					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.3106G>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539476	0.27563	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.30981	1.51;1.53;1.53	5.55	2.69	0.31865	.	0.473933	0.21825	N	0.068578	T	0.14960	0.0361	N	0.13043	0.29	0.09310	N	0.999996	B;B;B;B	0.19331	0.02;0.004;0.035;0.035	B;B;B;B	0.19391	0.016;0.011;0.025;0.025	T	0.15954	-1.0419	10	0.29301	T	0.29	-0.9855	5.0073	0.14295	0.1743:0.0:0.6578:0.1679	.	194;691;1036;1071	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	T	1036;1071;691;691	ENSP00000262210:A1036T;ENSP00000415782:A691T;ENSP00000430092:A691T	ENSP00000262210:A1036T	A	+	1	0	CSPP1	68252480	0.677000	0.27577	0.344000	0.25628	0.963000	0.63663	0.513000	0.22770	0.777000	0.33496	0.585000	0.79938	GCC		0.313	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		24	112	0	0	0	1	0	24	112				
CPSF3	51692	broad.mit.edu	37	2	9582061	9582061	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:9582061G>A	ENST00000238112.3	+	9	1257	c.1051G>A	c.(1051-1053)Ggt>Agt	p.G351S	CPSF3_ENST00000460593.1_Missense_Mutation_p.G314S	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	351					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TAAGAGGAATGGTGTCATTAT	0.453																																					Colon(194;1259 2048 3845 5218 19985)	ENST00000460593.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(940-942)Ggt>Agt		cleavage and polyadenylation specific factor 3, 73kDa							213.0	194.0	201.0					2																	9582061		2203	4300	6503	SO:0001583	missense	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9582061G>A	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1051G>A	2.37:g.9582061G>A	ENSP00000238112:p.Gly351Ser					CPSF3_ENST00000238112.3_Missense_Mutation_p.G351S	p.G314S			Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	9	2078	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	351					O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	c.940G>A	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	G	33	5.279905	0.95489	.	.	ENSG00000119203	ENST00000238112;ENST00000540142;ENST00000427001;ENST00000460593	T;T	0.40225	1.04;1.04	5.78	5.78	0.91487	Beta-Casp domain (1);	0.000000	0.85682	D	0.000000	T	0.56307	0.1976	L	0.46741	1.465	0.80722	D	1	P;P	0.46912	0.886;0.872	P;P	0.60789	0.457;0.879	T	0.35400	-0.9790	10	0.18276	T	0.48	-25.2532	20.0792	0.97764	0.0:0.0:1.0:0.0	.	351;351	E7ER23;Q9UKF6	.;CPSF3_HUMAN	S	351;73;351;314	ENSP00000238112:G351S;ENSP00000418957:G314S	ENSP00000238112:G351S	G	+	1	0	CPSF3	9499512	1.000000	0.71417	0.941000	0.38009	0.942000	0.58702	9.666000	0.98612	2.735000	0.93741	0.650000	0.86243	GGT		0.453	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		63	153	0	0	0	1	0	63	153				
PTX4	390667	broad.mit.edu	37	16	1537432	1537432	+	Silent	SNP	C	C	T	rs368786490		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:1537432C>T	ENST00000447419.2	-	2	706	c.681G>A	c.(679-681)tcG>tcA	p.S227S	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Silent_p.S222S			Q96A99	PTX4_HUMAN	pentraxin 4, long	227						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGAGAGGGGCCGAGGAGTCCT	0.692																																						ENST00000447419.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(679-681)tcG>tcA		pentraxin 4, long		C		5,4381		0,5,2188	20.0	25.0	24.0		666	-5.7	0.0	16		24	0,8570		0,0,4285	no	coding-synonymous	PTX4	NM_001013658.1		0,5,6473	TT,TC,CC		0.0,0.114,0.0386		222/474	1537432	5,12951	2193	4285	6478	SO:0001819	synonymous_variant	390667					extracellular region	metal ion binding	g.chr16:1537432C>T		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.681G>A	16.37:g.1537432C>T						PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Silent_p.S222S	p.S227S			Q96A99	PTX4_HUMAN			2	706	-			227						Silent	SNP	ENST00000447419.2	37	c.681G>A																																																																																					0.692	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		16	39	0	0	0	1	0	16	39				
VPS41	27072	broad.mit.edu	37	7	38816315	38816315	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:38816315A>G	ENST00000310301.4	-	11	900	c.846T>C	c.(844-846)gtT>gtC	p.V282V	VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Silent_p.V257V	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	282					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ACGAAAGTACAACAAGCTGAT	0.413																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.(844-846)gtT>gtC		vacuolar protein sorting 41 homolog (S. cerevisiae)							96.0	84.0	88.0					7																	38816315		2203	4300	6503	SO:0001819	synonymous_variant	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38816315A>G	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.846T>C	7.37:g.38816315A>G						VPS41_ENST00000395969.2_Silent_p.V257V|VPS41_ENST00000466017.1_5'UTR	p.V282V	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			11	900	-			282					E9PF36|Q86TP8|Q99851|Q99852	Silent	SNP	ENST00000310301.4	37	c.846T>C	CCDS5457.1																																																																																				0.413	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			13	35	0	0	0	1	0	13	35				
HOXD12	3238	broad.mit.edu	37	2	176964654	176964654	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:176964654T>C	ENST00000406506.2	+	1	197	c.125T>C	c.(124-126)aTc>aCc	p.I42T	HOXD12_ENST00000404162.2_Missense_Mutation_p.I42T			P35452	HXD12_HUMAN	homeobox D12	42				GGQLAALPPISYPRG -> AASLAFPLSPTRA (in Ref. 1; AAF79044). {ECO:0000305}.	embryonic digit morphogenesis (GO:0042733)|pattern specification process (GO:0007389)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CTTCCCCCTATCTCCTACCCG	0.711																																						ENST00000406506.2																			0				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10						c.(124-126)aTc>aCc		homeobox D12							31.0	34.0	33.0					2																	176964654		1806	4059	5865	SO:0001583	missense	3238					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176964654T>C		CCDS46456.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170178	ENSG00000170178		"""Homeoboxes / ANTP class : HOXL subclass"""	5135	protein-coding gene	gene with protein product		142988	"""homeo box D12"""	HOX4H		1675198, 1973146	Standard	NM_021193		Approved		uc010zev.1	P35452	OTTHUMG00000150358	ENST00000406506.2:c.125T>C	2.37:g.176964654T>C	ENSP00000385586:p.Ile42Thr					HOXD12_ENST00000404162.2_Missense_Mutation_p.I42T	p.I42T			P35452	HXD12_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)	1	197	+			42	GGQLAALPPISYPRG -> AASLAFPLSPTRA (in Ref. 1; AAF79044).				B5MCP0|Q0VAD7|Q0VAD8|Q9NS03	Missense_Mutation	SNP	ENST00000406506.2	37	c.125T>C	CCDS46456.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.655490	0.67586	.	.	ENSG00000170178	ENST00000406506;ENST00000404162	T;T	0.32753	1.44;1.44	5.28	5.28	0.74379	.	0.115066	0.64402	D	0.000015	T	0.53367	0.1792	M	0.77616	2.38	0.43574	D	0.995906	D;D	0.69078	0.996;0.997	D;D	0.63703	0.914;0.917	T	0.59273	-0.7485	10	0.87932	D	0	.	12.5938	0.56456	0.0:0.0:0.0:1.0	.	42;42	B5MCD3;P35452	.;HXD12_HUMAN	T	42	ENSP00000385586:I42T;ENSP00000385132:I42T	ENSP00000385132:I42T	I	+	2	0	HOXD12	176672900	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.847000	0.75404	2.000000	0.58554	0.533000	0.62120	ATC		0.711	HOXD12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359253.2	NM_021193		10	92	0	0	0	1	0	10	92				
VPS37D	155382	broad.mit.edu	37	7	73085543	73085543	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:73085543T>C	ENST00000324941.4	+	4	727	c.593T>C	c.(592-594)gTc>gCc	p.V198A	VPS37D_ENST00000451519.1_Missense_Mutation_p.V113A	NM_001077621.1	NP_001071089.1			vacuolar protein sorting 37 homolog D (S. cerevisiae)											central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCTGCAGCTGTCCTGCCCACT	0.741																																						ENST00000324941.4																			0				central_nervous_system(1)|ovary(1)	2						c.(592-594)gTc>gCc		vacuolar protein sorting 37 homolog D (S. cerevisiae)							5.0	5.0	5.0					7																	73085543		1528	3445	4973	SO:0001583	missense	155382				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr7:73085543T>C	AY081952	CCDS43596.1	7q11.23	2007-07-27	2006-04-04	2005-08-18	ENSG00000176428	ENSG00000176428			18287	protein-coding gene	gene with protein product		610039	"""Williams Beuren syndrome chromosome region 24"", ""vacuolar protein sorting 37D (yeast)"""	WBSCR24		15218037	Standard	NM_001077621		Approved	MGC35352	uc003tyr.3	Q86XT2	OTTHUMG00000157227	ENST00000324941.4:c.593T>C	7.37:g.73085543T>C	ENSP00000320416:p.Val198Ala					VPS37D_ENST00000451519.1_Missense_Mutation_p.V113A	p.V198A	NM_001077621.1	NP_001071089.1	Q86XT2	VP37D_HUMAN			4	727	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	198						Missense_Mutation	SNP	ENST00000324941.4	37	c.593T>C	CCDS43596.1	.	.	.	.	.	.	.	.	.	.	T	10.98	1.503977	0.26949	.	.	ENSG00000176428	ENST00000324941;ENST00000451519	T;T	0.55234	0.53;1.53	4.07	4.07	0.47477	.	0.332512	0.23983	N	0.042657	T	0.26919	0.0659	N	0.08118	0	0.28299	N	0.923183	B	0.14438	0.01	B	0.09377	0.004	T	0.14587	-1.0467	10	0.09338	T	0.73	.	9.3228	0.37975	0.0:0.0:0.0:1.0	.	198	Q86XT2	VP37D_HUMAN	A	198;113	ENSP00000320416:V198A;ENSP00000413337:V113A	ENSP00000320416:V198A	V	+	2	0	VPS37D	72723479	0.004000	0.15560	1.000000	0.80357	0.993000	0.82548	0.262000	0.18460	1.694000	0.51137	0.459000	0.35465	GTC		0.741	VPS37D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348064.1	NM_152560		3	18	0	0	0	1	0	3	18				
HRH2	3274	broad.mit.edu	37	5	175110408	175110408	+	Missense_Mutation	SNP	G	G	A	rs145250724		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:175110408G>A	ENST00000231683.2	+	1	1945	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	HRH2_ENST00000377291.2_Missense_Mutation_p.V58M	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	58					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	TTGTTTCATCGTGTCCTTGGC	0.587																																						ENST00000231683.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(172-174)Gtg>Atg		histamine receptor H2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	G	MET/VAL,MET/VAL	0,4406		0,0,2203	172.0	133.0	146.0		172,172	2.8	1.0	5	dbSNP_134	146	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	HRH2	NM_001131055.1,NM_022304.2	21,21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	58/398,58/360	175110408	2,13004	2203	4300	6503	SO:0001583	missense	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110408G>A		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.172G>A	5.37:g.175110408G>A	ENSP00000231683:p.Val58Met					HRH2_ENST00000377291.2_Missense_Mutation_p.V58M	p.V58M	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	1945	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	58					B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.172G>A	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095131	0.56075	0.0	2.33E-4	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.74315	-0.83;-0.83	5.46	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.142470	0.47093	D	0.000259	T	0.78880	0.4353	M	0.70108	2.13	0.45747	D	0.998641	P;P	0.51933	0.659;0.949	B;P	0.54140	0.327;0.743	T	0.76868	-0.2800	10	0.52906	T	0.07	.	9.9301	0.41517	0.2191:0.0:0.7809:0.0	.	58;58	P25021;Q7Z5R9	HRH2_HUMAN;.	M	58	ENSP00000366506:V58M;ENSP00000231683:V58M	ENSP00000231683:V58M	V	+	1	0	HRH2	175043014	1.000000	0.71417	0.956000	0.39512	0.471000	0.32888	4.148000	0.58085	0.305000	0.22832	0.462000	0.41574	GTG		0.587	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			39	112	0	0	0	1	0	39	112				
TRIM56	81844	broad.mit.edu	37	7	100732416	100732416	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100732416C>T	ENST00000306085.6	+	3	2120	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	608					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCGTGGCGGGCCACGTG	0.701																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1822-1824)gCg>gTg		tripartite motif containing 56							32.0	39.0	37.0					7																	100732416		2023	4149	6172	SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100732416C>T	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1823C>T	7.37:g.100732416C>T	ENSP00000305161:p.Ala608Val						p.A608V	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	2120	+	Lung NSC(181;0.136)|all_lung(186;0.182)		608					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.1823C>T	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.537513	0.27475	.	.	ENSG00000169871	ENST00000306085	T	0.30981	1.51	4.05	3.14	0.36123	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.13927	0.0337	N	0.08118	0	0.23724	N	0.997018	B	0.31519	0.327	B	0.21917	0.037	T	0.14392	-1.0474	9	0.25106	T	0.35	.	9.7837	0.40664	0.0:0.7903:0.2097:0.0	.	608	Q9BRZ2	TRI56_HUMAN	V	608	ENSP00000305161:A608V	ENSP00000305161:A608V	A	+	2	0	TRIM56	100519136	0.957000	0.32711	0.591000	0.28745	0.763000	0.43281	2.304000	0.43655	1.265000	0.44215	0.586000	0.80456	GCG		0.701	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		56	132	0	0	0	1	0	56	132				
ZIC1	7545	broad.mit.edu	37	3	147128060	147128060	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:147128060A>G	ENST00000282928.4	+	1	890	c.161A>G	c.(160-162)cAc>cGc	p.H54R		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	54					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCCAGTTCGCACGAGCTGGCT	0.721																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(160-162)cAc>cGc		Zic family member 1							27.0	30.0	29.0					3																	147128060		2198	4293	6491	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128060A>G	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.161A>G	3.37:g.147128060A>G	ENSP00000282928:p.His54Arg						p.H54R	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	890	+			54					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.161A>G	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763910	0.69878	.	.	ENSG00000152977	ENST00000282928	T	0.17854	2.25	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	M	0.72118	2.19	0.80722	D	1	P	0.47253	0.892	P	0.53062	0.717	T	0.13953	-1.0490	10	0.87932	D	0	.	12.9709	0.58511	1.0:0.0:0.0:0.0	.	54	Q15915	ZIC1_HUMAN	R	54	ENSP00000282928:H54R	ENSP00000282928:H54R	H	+	2	0	ZIC1	148610750	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	9.062000	0.93920	1.473000	0.48159	0.363000	0.22086	CAC		0.721	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		26	62	0	0	0	1	0	26	62				
KIAA1429	25962	broad.mit.edu	37	8	95507106	95507106	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:95507106T>C	ENST00000297591.5	-	20	4698	c.4623A>G	c.(4621-4623)atA>atG	p.I1541M	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1541					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GATCTGTATCTATCTCTTCAG	0.323																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4621-4623)atA>atG		KIAA1429							129.0	139.0	136.0					8																	95507106		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95507106T>C	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4623A>G	8.37:g.95507106T>C	ENSP00000297591:p.Ile1541Met					KIAA1429_ENST00000437199.1_3'UTR	p.I1541M	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		20	4698	-	Breast(36;3.29e-05)		1541					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.4623A>G	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.069081	0.76301	.	.	ENSG00000164944	ENST00000297591	T	0.48201	0.82	5.16	2.79	0.32731	.	0.156815	0.53938	D	0.000043	T	0.21921	0.0528	N	0.05199	-0.095	0.80722	D	1	B	0.24368	0.102	B	0.21917	0.037	T	0.04178	-1.0971	10	0.38643	T	0.18	-15.6722	4.2841	0.10846	0.5857:0.0:0.1486:0.2657	.	1541	Q69YN4	VIR_HUMAN	M	1541	ENSP00000297591:I1541M	ENSP00000297591:I1541M	I	-	3	3	KIAA1429	95576282	0.964000	0.33143	1.000000	0.80357	0.983000	0.72400	0.135000	0.15952	0.081000	0.16988	-0.265000	0.10407	ATA		0.323	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		61	305	0	0	0	1	0	61	305				
OXR1	55074	broad.mit.edu	37	8	107719358	107719358	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:107719358G>A	ENST00000442977.2	+	8	1711	c.1612G>A	c.(1612-1614)Gat>Aat	p.D538N	OXR1_ENST00000497705.1_Missense_Mutation_p.D470N|OXR1_ENST00000312046.6_Missense_Mutation_p.D530N|OXR1_ENST00000452423.2_Missense_Mutation_p.D27N|OXR1_ENST00000445937.1_Missense_Mutation_p.D537N|OXR1_ENST00000517566.2_Missense_Mutation_p.D537N|OXR1_ENST00000531443.1_Missense_Mutation_p.D537N	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	538					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TACATCTGCTGATGGACACAT	0.368																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1609-1611)Gat>Aat		oxidation resistance 1							61.0	61.0	61.0					8																	107719358		2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107719358G>A	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1612G>A	8.37:g.107719358G>A	ENSP00000405424:p.Asp538Asn					OXR1_ENST00000442977.2_Missense_Mutation_p.D538N|OXR1_ENST00000452423.2_Missense_Mutation_p.D27N|OXR1_ENST00000531443.1_Missense_Mutation_p.D537N|OXR1_ENST00000312046.6_Missense_Mutation_p.D530N|OXR1_ENST00000497705.1_Missense_Mutation_p.D470N|OXR1_ENST00000517566.2_Missense_Mutation_p.D537N	p.D537N	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		9	1870	+			538					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.1609G>A	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143952	0.77888	.	.	ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000452423;ENST00000442977;ENST00000497705;ENST00000312046	T;T;T;T;T;T;T	0.31769	2.67;2.67;2.72;2.2;2.72;1.48;2.65	5.51	4.63	0.57726	.	0.755593	0.13463	N	0.386016	T	0.49729	0.1574	L	0.60455	1.87	0.34980	D	0.753969	D;P;P;P;P	0.63046	0.992;0.917;0.839;0.897;0.935	P;P;B;P;P	0.61397	0.888;0.529;0.367;0.645;0.466	T	0.60089	-0.7331	10	0.52906	T	0.07	-26.8199	14.6914	0.69087	0.0706:0.0:0.9294:0.0	.	530;538;537;470;537	Q8N573-2;Q8N573;D3HIS6;Q8N573-3;Q8N573-5	.;OXR1_HUMAN;.;.;.	N	537;537;537;27;538;470;530	ENSP00000402918:D537N;ENSP00000431966:D537N;ENSP00000429205:D537N;ENSP00000395032:D27N;ENSP00000405424:D538N;ENSP00000431014:D470N;ENSP00000311026:D530N	ENSP00000311026:D530N	D	+	1	0	OXR1	107788534	1.000000	0.71417	0.900000	0.35374	0.906000	0.53458	5.793000	0.69060	1.320000	0.45209	0.591000	0.81541	GAT		0.368	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		11	71	0	0	0	1	0	11	71				
GSG2	83903	broad.mit.edu	37	17	3627784	3627784	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:3627784T>C	ENST00000325418.4	+	1	574	c.555T>C	c.(553-555)agT>agC	p.S185S	ITGAE_ENST00000571185.1_5'UTR|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	185					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										CAAGGGACAGTGTCATCTCGA	0.682																																						ENST00000325418.4																			0											c.(553-555)agT>agC		germ cell associated 2 (haspin)							44.0	45.0	44.0					17																	3627784		2203	4300	6503	SO:0001819	synonymous_variant	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3627784T>C	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.555T>C	17.37:g.3627784T>C						ITGAE_ENST00000571185.1_5'UTR|ITGAE_ENST00000263087.4_Intron	p.S185S	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	574	+			185					Q5U5K3|Q96MN1|Q9BXS7	Silent	SNP	ENST00000325418.4	37	c.555T>C	CCDS11036.1																																																																																				0.682	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		6	96	0	0	0	1	0	6	96				
PCNT	5116	broad.mit.edu	37	21	47848441	47848441	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:47848441C>T	ENST00000359568.5	+	35	7734	c.7627C>T	c.(7627-7629)Cgc>Tgc	p.R2543C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2543					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.R2543C(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCAGCACTTGCGCACGGCGCT	0.692																																						ENST00000359568.5																			1	Substitution - Missense(1)	p.R2543C(1)	prostate(1)	NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(7627-7629)Cgc>Tgc		pericentrin							23.0	21.0	21.0					21																	47848441		2199	4298	6497	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47848441C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7627C>T	21.37:g.47848441C>T	ENSP00000352572:p.Arg2543Cys					PCNT_ENST00000480896.1_3'UTR	p.R2543C	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			35	7734	+	Breast(49;0.112)		2543					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.7627C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	7.830	0.719607	0.15372	.	.	ENSG00000160299	ENST00000359568	T	0.01446	4.88	4.51	2.22	0.28083	.	0.236734	0.22101	N	0.064618	T	0.00967	0.0032	N	0.04203	-0.255	0.33546	D	0.595441	B;B	0.09022	0.002;0.0	B;B	0.01281	0.0;0.0	T	0.38972	-0.9636	10	0.41790	T	0.15	.	4.9323	0.13923	0.0:0.4355:0.0:0.5645	.	2425;2543	O95613-2;O95613	.;PCNT_HUMAN	C	2543	ENSP00000352572:R2543C	ENSP00000352572:R2543C	R	+	1	0	PCNT	46672869	0.738000	0.28186	0.904000	0.35570	0.074000	0.17049	2.916000	0.48813	0.840000	0.34995	-0.471000	0.05019	CGC		0.692	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		8	18	0	0	0	1	0	8	18				
MYT1	4661	broad.mit.edu	37	20	62848555	62848555	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:62848555T>C	ENST00000328439.1	+	11	2131	c.1767T>C	c.(1765-1767)agT>agC	p.S589S	MYT1_ENST00000536311.1_Silent_p.S589S|MYT1_ENST00000360149.4_Silent_p.S291S	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACTACGCAAGTTTCGATGCTC	0.532																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1765-1767)agT>agC		myelin transcription factor 1							110.0	103.0	105.0					20																	62848555		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62848555T>C	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1767T>C	20.37:g.62848555T>C						MYT1_ENST00000328439.1_Silent_p.S589S|MYT1_ENST00000360149.4_Silent_p.S291S	p.S589S			Q01538	MYT1_HUMAN			11	2131	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		589					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.1767T>C	CCDS13558.1																																																																																				0.532	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		7	129	0	0	0	1	0	7	129				
CRACR2B	283229	broad.mit.edu	37	11	828642	828642	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:828642C>T	ENST00000525077.1	+	1	136	c.35C>T	c.(34-36)gCc>gTc	p.A12V	EFCAB4A_ENST00000450448.1_Missense_Mutation_p.A12V|AP006621.8_ENST00000532946.1_RNA|EFCAB4A_ENST00000528542.2_Missense_Mutation_p.A12V			Q8N4Y2	EFC4A_HUMAN		12					cellular protein localization (GO:0034613)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGATGAGGCCCAGGAGGAG	0.632																																						ENST00000450448.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(34-36)gCc>gTc		EF-hand calcium binding domain 4A							30.0	36.0	34.0					11																	828642		1899	4112	6011	SO:0001583	missense	283229				store-operated calcium entry		calcium ion binding	g.chr11:828642C>T																												ENST00000525077.1:c.35C>T	11.37:g.828642C>T	ENSP00000435299:p.Ala12Val					EFCAB4A_ENST00000528542.2_Missense_Mutation_p.A12V|EFCAB4A_ENST00000525077.1_Missense_Mutation_p.A12V|AP006621.8_ENST00000532946.1_RNA	p.A12V	NM_173584.3	NP_775855.3	Q8N4Y2	EFC4A_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	540	+		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)	12					D5LPR2|Q8NBW8	Missense_Mutation	SNP	ENST00000525077.1	37	c.35C>T		.	.	.	.	.	.	.	.	.	.	C	8.744	0.919681	0.17982	.	.	ENSG00000177685	ENST00000528315;ENST00000533803;ENST00000527089;ENST00000530183;ENST00000528542;ENST00000450448;ENST00000321883;ENST00000525077	T;T;T;T;T	0.38240	1.2;1.15;2.83;2.83;3.0	2.51	-5.02	0.02982	.	2.727180	0.02546	U	0.095061	T	0.19805	0.0476	N	0.22421	0.69	0.09310	N	1	B;B;B	0.16396	0.002;0.017;0.004	B;B;B	0.14023	0.003;0.01;0.005	T	0.07385	-1.0775	10	0.30078	T	0.28	.	1.5691	0.02611	0.4786:0.2218:0.1708:0.1288	.	12;12;12	E7EWX3;Q8N4Y2-3;Q8N4Y2	.;.;EFC4A_HUMAN	V	12	ENSP00000433602:A12V;ENSP00000432726:A12V;ENSP00000432334:A12V;ENSP00000409256:A12V;ENSP00000435299:A12V	ENSP00000324024:A12V	A	+	2	0	EFCAB4A	818642	0.000000	0.05858	0.120000	0.21714	0.547000	0.35210	-0.898000	0.04105	-0.897000	0.03910	-0.657000	0.03884	GCC		0.632	EFCAB4A-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000383097.1			14	46	0	0	0	1	0	14	46				
PITPNM2	57605	broad.mit.edu	37	12	123485615	123485615	+	Missense_Mutation	SNP	G	G	A	rs201956381	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:123485615G>A	ENST00000542749.1	-	7	1202	c.1139C>T	c.(1138-1140)cCg>cTg	p.P380L	PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000320201.4_Missense_Mutation_p.P380L|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P101L|PITPNM2_ENST00000280562.5_Missense_Mutation_p.P380L|PITPNM2_ENST00000546049.1_Missense_Mutation_p.P418L			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	380					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGTGTCTTCCGGCTCTGGGCT	0.592													G|||	9	0.00179712	0.0008	0.0	5008	,	,		19579	0.0		0.0	False		,,,				2504	0.0082					ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(1138-1140)cCg>cTg		phosphatidylinositol transfer protein, membrane-associated 2							126.0	112.0	117.0					12																	123485615		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123485615G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1139C>T	12.37:g.123485615G>A	ENSP00000437611:p.Pro380Leu					PITPNM2_ENST00000320201.4_Missense_Mutation_p.P380L|PITPNM2_ENST00000546049.1_Missense_Mutation_p.P418L|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Missense_Mutation_p.P380L|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P101L	p.P380L			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	8	1344	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		380					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.1139C>T	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	5.959	0.360836	0.11296	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.43294	2.17;2.17;0.95;2.17	5.16	3.34	0.38264	.	0.691183	0.14336	N	0.326028	T	0.30324	0.0761	L	0.42245	1.32	0.22601	N	0.99894	B;B;B	0.11235	0.004;0.003;0.002	B;B;B	0.06405	0.002;0.001;0.001	T	0.21449	-1.0245	10	0.35671	T	0.21	-4.7282	3.6703	0.08272	0.152:0.1387:0.5822:0.127	.	380;380;380	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	L	380;380;101;380	ENSP00000280562:P380L;ENSP00000322218:P380L;ENSP00000376223:P101L;ENSP00000437611:P380L	ENSP00000280562:P380L	P	-	2	0	PITPNM2	122051568	0.164000	0.22935	0.710000	0.30468	0.670000	0.39368	1.295000	0.33377	0.698000	0.31739	0.555000	0.69702	CCG		0.592	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		4	88	0	0	0	1	0	4	88				
PGM2	55276	broad.mit.edu	37	4	37841857	37841857	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:37841857A>G	ENST00000381967.4	+	6	795	c.695A>G	c.(694-696)gAc>gGc	p.D232G	PGM2_ENST00000537241.1_Missense_Mutation_p.D72G|PGM2_ENST00000544359.1_Missense_Mutation_p.D93G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	232					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TACTTTGAAGACCTTAAAAAG	0.383																																						ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(694-696)gAc>gGc		phosphoglucomutase 2							82.0	82.0	82.0					4																	37841857		2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37841857A>G	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.695A>G	4.37:g.37841857A>G	ENSP00000371393:p.Asp232Gly					PGM2_ENST00000537241.1_Missense_Mutation_p.D72G|PGM2_ENST00000544359.1_Missense_Mutation_p.D93G	p.D232G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN			6	795	+			232					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.695A>G	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.641901	0.29157	.	.	ENSG00000169299	ENST00000381967;ENST00000544359;ENST00000537241	T;T;T	0.62788	-0.0;-0.0;-0.0	5.65	5.65	0.86999	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.128586	0.64402	D	0.000001	T	0.58192	0.2105	L	0.49513	1.565	0.49582	D	0.999804	B;B	0.23058	0.079;0.005	B;B	0.25759	0.063;0.012	T	0.53669	-0.8406	10	0.26408	T	0.33	-13.5836	16.1864	0.81955	1.0:0.0:0.0:0.0	.	232;93	Q96G03;B4E0G8	PGM2_HUMAN;.	G	232;93;72	ENSP00000371393:D232G;ENSP00000438025:D93G;ENSP00000437342:D72G	ENSP00000371393:D232G	D	+	2	0	PGM2	37518252	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	6.618000	0.74214	2.281000	0.76405	0.528000	0.53228	GAC		0.383	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		24	75	0	0	0	1	0	24	75				
DDX10	1662	broad.mit.edu	37	11	108593750	108593750	+	Missense_Mutation	SNP	G	G	A	rs368051511		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:108593750G>A	ENST00000322536.3	+	13	1655	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	DDX10_ENST00000526794.1_Missense_Mutation_p.R509H	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	509					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GTGGCACCACGCGTAAGATTT	0.423			T	NUP98	AML*								G|||	1	0.000199681	0.0008	0.0	5008	,	,		18298	0.0		0.0	False		,,,				2504	0.0					ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(1525-1527)cGc>cAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10		G	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	42.0	43.0	43.0		1526	5.5	0.9	11		43	0,8596		0,0,4298	no	missense	DDX10	NM_004398.2	29	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	509/876	108593750	1,12997	2201	4298	6499	SO:0001583	missense	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108593750G>A	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.1526G>A	11.37:g.108593750G>A	ENSP00000314348:p.Arg509His					DDX10_ENST00000322536.3_Missense_Mutation_p.R509H	p.R509H			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	13	1558	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	509					B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	c.1526G>A	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469283	0.84533	2.27E-4	0.0	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.46451	0.87;0.89	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	M	0.92784	3.345	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.69654	0.965;0.947	T	0.79514	-0.1772	10	0.87932	D	0	-10.8314	18.0151	0.89236	0.0:0.0:1.0:0.0	.	509;509	Q13206;E9PIF2	DDX10_HUMAN;.	H	509;415;509	ENSP00000314348:R509H;ENSP00000432032:R509H	ENSP00000314348:R509H	R	+	2	0	DDX10	108098960	1.000000	0.71417	0.904000	0.35570	0.750000	0.42670	6.453000	0.73488	2.766000	0.95052	0.650000	0.86243	CGC		0.423	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		13	38	0	0	0	1	0	13	38				
NLRP7	199713	broad.mit.edu	37	19	55451630	55451630	+	Missense_Mutation	SNP	G	G	A	rs374175601		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:55451630G>A	ENST00000590030.1	-	3	597	c.557C>T	c.(556-558)aCg>aTg	p.T186M	NLRP7_ENST00000328092.5_Missense_Mutation_p.T186M|NLRP7_ENST00000588756.1_Missense_Mutation_p.T186M|NLRP7_ENST00000340844.2_Missense_Mutation_p.T186M|NLRP7_ENST00000446217.1_Missense_Mutation_p.T214M|NLRP7_ENST00000448121.2_Missense_Mutation_p.T186M|NLRP7_ENST00000592784.1_Missense_Mutation_p.T186M			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	186	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTTGGCCAGCGTGGTTTTCCC	0.572																																						ENST00000588756.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(556-558)aCg>aTg		NLR family, pyrin domain containing 7		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	124.0	124.0	124.0		557,557,557	0.8	0.0	19		124	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	NLRP7	NM_001127255.1,NM_139176.3,NM_206828.3	81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	186/1038,186/1010,186/981	55451630	1,13005	2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55451630G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.557C>T	19.37:g.55451630G>A	ENSP00000465520:p.Thr186Met					NLRP7_ENST00000328092.5_Missense_Mutation_p.T186M|NLRP7_ENST00000592784.1_Missense_Mutation_p.T186M|NLRP7_ENST00000590030.1_Missense_Mutation_p.T186M|NLRP7_ENST00000340844.2_Missense_Mutation_p.T186M|NLRP7_ENST00000448121.2_Missense_Mutation_p.T186M|NLRP7_ENST00000446217.1_Missense_Mutation_p.T214M	p.T186M			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1043	-			186			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.557C>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397860	0.42512	0.0	1.16E-4	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	1.87	0.805	0.18703	NACHT nucleoside triphosphatase (1);	0.301525	0.18704	N	0.133507	D	0.87509	0.6195	L	0.56124	1.755	0.22034	N	0.999407	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.996	T	0.76277	-0.3018	10	0.46703	T	0.11	.	6.529	0.22316	0.1658:0.0:0.8342:0.0	.	214;186;186;186	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	M	186;186;186;214	ENSP00000329568:T186M;ENSP00000409137:T186M;ENSP00000339491:T186M;ENSP00000414273:T214M	ENSP00000329568:T186M	T	-	2	0	NLRP7	60143442	0.005000	0.15991	0.027000	0.17364	0.180000	0.23129	1.545000	0.36169	0.352000	0.24053	0.455000	0.32223	ACG		0.572	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		34	125	0	0	0	1	0	34	125				
ZDHHC6	64429	broad.mit.edu	37	10	114192220	114192220	+	Silent	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:114192220G>T	ENST00000369405.3	-	9	1428	c.1005C>A	c.(1003-1005)atC>atA	p.I335I	ZDHHC6_ENST00000482410.1_5'UTR|ZDHHC6_ENST00000369404.3_Silent_p.I331I	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	335					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		AGAAGGTTTTGATTCCTTTAT	0.413																																						ENST00000369405.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1003-1005)atC>atA		zinc finger, DHHC-type containing 6							136.0	133.0	134.0					10																	114192220		2203	4300	6503	SO:0001819	synonymous_variant	64429					integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:114192220G>T	AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"""Zinc fingers, DHHC-type"""	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.1005C>A	10.37:g.114192220G>T						ZDHHC6_ENST00000369404.3_Silent_p.I331I|ZDHHC6_ENST00000482410.1_5'UTR	p.I335I	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN		Epithelial(162;0.0291)|all cancers(201;0.117)	9	1428	-		Colorectal(252;0.198)	335					D3DRB6|Q53G45|Q96IV7|Q9H605	Silent	SNP	ENST00000369405.3	37	c.1005C>A	CCDS7574.1																																																																																				0.413	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1	NM_022494		29	100	1	0	9.39395e-14	1	9.81155e-14	29	100				
ZNF331	55422	broad.mit.edu	37	19	54081079	54081079	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54081079A>T	ENST00000253144.9	+	7	2598	c.1265A>T	c.(1264-1266)cAc>cTc	p.H422L	ZNF331_ENST00000449416.1_Missense_Mutation_p.H422L|ZNF331_ENST00000513999.1_Missense_Mutation_p.H422L|ZNF331_ENST00000411977.2_Missense_Mutation_p.H422L|ZNF331_ENST00000511154.1_Missense_Mutation_p.H422L|ZNF331_ENST00000512387.1_Missense_Mutation_p.H422L|ZNF331_ENST00000511593.2_Missense_Mutation_p.H422L	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AGCTTTAGTCACGGCCATCAG	0.488			T	?	follicular thyroid adenoma																																	ENST00000253144.9				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(1264-1266)cAc>cTc		zinc finger protein 331							74.0	63.0	66.0					19																	54081079		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54081079A>T	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.1265A>T	19.37:g.54081079A>T	ENSP00000253144:p.His422Leu					ZNF331_ENST00000513999.1_Missense_Mutation_p.H422L|ZNF331_ENST00000511593.2_Missense_Mutation_p.H422L|ZNF331_ENST00000512387.1_Missense_Mutation_p.H422L|ZNF331_ENST00000511154.1_Missense_Mutation_p.H422L|ZNF331_ENST00000449416.1_Missense_Mutation_p.H422L|ZNF331_ENST00000411977.2_Missense_Mutation_p.H422L	p.H422L	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	2598	+			422					Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.1265A>T	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	A	0.164	-1.078277	0.01903	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13;2.13	3.77	2.75	0.32379	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36374	N	0.002636	T	0.12135	0.0295	N	0.10874	0.06	0.19945	N	0.999941	P	0.47191	0.891	P	0.49332	0.607	T	0.15150	-1.0447	10	0.09590	T	0.72	.	7.0232	0.24926	0.884:0.0:0.116:0.0	.	422	Q9NQX6	ZN331_HUMAN	L	422	ENSP00000253144:H422L;ENSP00000427439:H422L;ENSP00000393817:H422L;ENSP00000393336:H422L;ENSP00000421014:H422L;ENSP00000423156:H422L;ENSP00000421728:H422L	ENSP00000253144:H422L	H	+	2	0	ZNF331	58772891	0.000000	0.05858	0.634000	0.29324	0.459000	0.32528	-0.138000	0.10374	1.706000	0.51276	0.533000	0.62120	CAC		0.488	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		21	46	0	0	0	1	0	21	46				
CTAGE5	4253	broad.mit.edu	37	14	39815160	39815160	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:39815160T>C	ENST00000280083.3	+	21	2198	c.1884T>C	c.(1882-1884)tgT>tgC	p.C628C	CTAGE5_ENST00000557038.1_Silent_p.C548C|CTAGE5_ENST00000348007.3_Silent_p.C585C|RP11-407N17.3_ENST00000553728.1_Silent_p.C1163C|CTAGE5_ENST00000553352.1_Silent_p.C599C|CTAGE5_ENST00000556148.1_Silent_p.C553C|RP11-407N17.3_ENST00000603904.1_Silent_p.C599C|CTAGE5_ENST00000396165.4_Silent_p.C599C|CTAGE5_ENST00000396158.2_Silent_p.C633C|CTAGE5_ENST00000341502.5_Silent_p.C628C|CTAGE5_ENST00000341749.3_Silent_p.C616C			O15320	CTGE5_HUMAN	CTAGE family, member 5	628	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		ACAGATTTTGTTCTAATTCTG	0.333																																						ENST00000553728.1																			0											c.(3487-3489)tgT>tgC									76.0	74.0	75.0					14																	39815160		2203	4300	6503	SO:0001819	synonymous_variant	4253							g.chr14:39815160T>C	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1884T>C	14.37:g.39815160T>C						CTAGE5_ENST00000557038.1_Silent_p.C548C|CTAGE5_ENST00000396158.2_Silent_p.C633C|CTAGE5_ENST00000348007.3_Silent_p.C585C|CTAGE5_ENST00000341749.3_Silent_p.C616C|CTAGE5_ENST00000553352.1_Silent_p.C599C|CTAGE5_ENST00000396165.4_Silent_p.C599C|CTAGE5_ENST00000341502.5_Silent_p.C628C|CTAGE5_ENST00000280083.3_Silent_p.C628C|RP11-407N17.3_ENST00000603904.1_Silent_p.C599C|CTAGE5_ENST00000556148.1_Silent_p.C553C	p.C1163C							25	3702	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	ENST00000280083.3	37	c.3489T>C	CCDS9674.1																																																																																				0.333	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		8	95	0	0	0	1	0	8	95				
WHAMMP3	339005	broad.mit.edu	37	15	23205102	23205102	+	RNA	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:23205102T>C	ENST00000400153.2	-	0	752					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		AAGAACGTGGTTGCCACGGTA	0.378																																						ENST00000400153.2																			0																																																			339005							g.chr15:23205102T>C	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205102T>C								NR_003521.1						0	752	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.378	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		4	17	0	0	0	1	0	4	17				
CCDC18	343099	broad.mit.edu	37	1	93691984	93691984	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:93691984A>C	ENST00000343253.7	+	17	2769	c.2267A>C	c.(2266-2268)cAg>cCg	p.Q756P	CCDC18_ENST00000401026.3_Missense_Mutation_p.Q757P|CCDC18_ENST00000338949.4_Missense_Mutation_p.Q512P|CCDC18_ENST00000557479.1_Missense_Mutation_p.Q875P|CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000334652.5_Missense_Mutation_p.Q52P			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	756										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTTGAAAAACAGTTAAAGAAG	0.289																																						ENST00000343253.7																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(2266-2268)cAg>cCg		coiled-coil domain containing 18							46.0	45.0	46.0					1																	93691984		1794	4053	5847	SO:0001583	missense	343099							g.chr1:93691984A>C			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.2267A>C	1.37:g.93691984A>C	ENSP00000343377:p.Gln756Pro					CCDC18_ENST00000401026.3_Missense_Mutation_p.Q757P|CCDC18_ENST00000334652.5_Missense_Mutation_p.Q52P|CCDC18_ENST00000338949.4_Missense_Mutation_p.Q512P|CCDC18_ENST00000557479.1_Missense_Mutation_p.Q875P|CCDC18_ENST00000421014.2_3'UTR	p.Q756P			Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	17	2769	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	756					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.2267A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.5|22.5	4.295597|4.295597	0.81025|0.81025	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000334652;ENST00000455267|ENST00000370276	T;T;T;T;T;T|.	0.20598|.	2.06;2.06;2.06;2.06;2.06;2.06|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.193961|.	0.45606|.	D|.	0.000347|.	T|T	0.61640|0.61640	0.2363|0.2363	L|L	0.58101|0.58101	1.795|1.795	0.54753|0.54753	D|D	0.999988|0.999988	D;D|.	0.76494|.	0.99;0.999|.	P;D|.	0.71656|.	0.901;0.974|.	T|T	0.61874|0.61874	-0.6973|-0.6973	10|5	0.72032|.	D|.	0.01|.	.|.	15.4215|15.4215	0.75015|0.75015	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	756;875|.	Q5T9S5;G3V388|.	CCD18_HUMAN;.|.	P|R	756;757;875;512;52;432|810	ENSP00000343377:Q756P;ENSP00000383808:Q757P;ENSP00000451099:Q875P;ENSP00000344380:Q512P;ENSP00000334084:Q52P;ENSP00000391151:Q432P|.	ENSP00000334084:Q52P|.	Q|S	+|+	2|1	0|0	CCDC18|CCDC18	93464572|93464572	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	6.579000|6.579000	0.74036|0.74036	2.086000|2.086000	0.62901|0.62901	0.528000|0.528000	0.53228|0.53228	CAG|AGT		0.289	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		12	34	0	0	0	1	0	12	34				
DLAT	1737	broad.mit.edu	37	11	111899652	111899652	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:111899652T>C	ENST00000280346.6	+	4	1302	c.643T>C	c.(643-645)Tat>Cat	p.Y215H	DLAT_ENST00000537636.1_Intron|DLAT_ENST00000393051.1_Missense_Mutation_p.Y215H	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	215					cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		TGGTAGCTCATATCCCCCTCA	0.527																																						ENST00000280346.6																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(643-645)Tat>Cat		dihydrolipoamide S-acetyltransferase	NADH(DB00157)						88.0	81.0	83.0					11																	111899652		2201	4297	6498	SO:0001583	missense	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111899652T>C	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.643T>C	11.37:g.111899652T>C	ENSP00000280346:p.Tyr215His					DLAT_ENST00000537636.1_Intron|DLAT_ENST00000393051.1_Missense_Mutation_p.Y215H	p.Y215H	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	4	1302	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	215					Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	c.643T>C	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	T	10.48	1.361787	0.24684	.	.	ENSG00000150768	ENST00000280346;ENST00000534998;ENST00000393051	T;T	0.15952	2.38;2.51	5.55	4.4	0.53042	Single hybrid motif (1);	0.060058	0.64402	D	0.000002	T	0.31638	0.0803	L	0.61218	1.895	0.80722	D	1	B;P	0.39748	0.038;0.686	B;P	0.52424	0.023;0.698	T	0.01416	-1.1360	10	0.38643	T	0.18	-5.2257	12.762	0.57370	0.0:0.0:0.1371:0.8629	.	215;215	E9PEJ4;P10515	.;ODP2_HUMAN	H	215;183;215	ENSP00000280346:Y215H;ENSP00000376771:Y215H	ENSP00000280346:Y215H	Y	+	1	0	DLAT	111404862	1.000000	0.71417	0.977000	0.42913	0.846000	0.48090	6.571000	0.74000	0.917000	0.36895	0.477000	0.44152	TAT		0.527	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		27	95	0	0	0	1	0	27	95				
SETDB2	83852	broad.mit.edu	37	13	50035241	50035241	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:50035241C>T	ENST00000317257.8	+	4	976	c.151C>T	c.(151-153)Caa>Taa	p.Q51*	SETDB2_ENST00000354234.4_Nonsense_Mutation_p.Q51*|SETDB2_ENST00000258672.5_Nonsense_Mutation_p.Q51*	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	51					chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AGAATACATCCAAGCAATGAT	0.313																																						ENST00000354234.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(151-153)Caa>Taa		SET domain, bifurcated 2							165.0	163.0	164.0					13																	50035241		2202	4298	6500	SO:0001587	stop_gained	83852				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding	g.chr13:50035241C>T	AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.151C>T	13.37:g.50035241C>T	ENSP00000326477:p.Gln51*					SETDB2_ENST00000317257.8_Nonsense_Mutation_p.Q51*|SETDB2_ENST00000258672.5_Nonsense_Mutation_p.Q51*	p.Q51*	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)	4	1057	+		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	51					Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Nonsense_Mutation	SNP	ENST00000317257.8	37	c.151C>T	CCDS9417.1	.	.	.	.	.	.	.	.	.	.	C	37	6.446097	0.97572	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	.	.	.	5.87	5.87	0.94306	.	0.178825	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	16.0731	0.80948	0.0:1.0:0.0:0.0	.	.	.	.	X	51	.	ENSP00000258672:Q51X	Q	+	1	0	SETDB2	48933242	0.995000	0.38212	0.980000	0.43619	0.282000	0.26991	4.048000	0.57390	2.941000	0.99782	0.655000	0.94253	CAA		0.313	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044925.1	NM_031915		29	104	0	0	0	1	0	29	104				
CHRND	1144	broad.mit.edu	37	2	233392148	233392148	+	Missense_Mutation	SNP	T	T	C	rs121909509		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:233392148T>C	ENST00000258385.3	+	3	268	c.236T>C	c.(235-237)aTa>aCa	p.I79T	CHRND_ENST00000536614.1_Missense_Mutation_p.I79T|CHRND_ENST00000457943.2_5'UTR|CHRND_ENST00000543200.1_Intron	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	79					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	AATGTGTGGATAGAGCACGTA	0.537													T|||	1	0.000199681	0.0	0.0	5008	,	,		16924	0.0		0.001	False		,,,				2504	0.0					ENST00000258385.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34	GRCh37	CM081555	CHRND	M	rs121909509	c.(235-237)aTa>aCa		cholinergic receptor, nicotinic, delta (muscle)							134.0	117.0	123.0					2																	233392148		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233392148T>C	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.236T>C	2.37:g.233392148T>C	ENSP00000258385:p.Ile79Thr					CHRND_ENST00000536614.1_Missense_Mutation_p.I79T|CHRND_ENST00000457943.2_5'UTR|CHRND_ENST00000543200.1_Intron	p.I79T	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	3	268	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	79					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.236T>C	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006727	0.74932	.	.	ENSG00000135902	ENST00000258385;ENST00000536614	T;T	0.79845	-1.31;-1.31	3.97	3.97	0.46021	Neurotransmitter-gated ion-channel ligand-binding (3);	0.319686	0.32868	N	0.005549	D	0.87018	0.6073	M	0.80183	2.485	0.80722	D	1	B	0.27416	0.178	P	0.46362	0.514	D	0.88174	0.2866	10	0.87932	D	0	.	13.0052	0.58701	0.0:0.0:0.0:1.0	.	79	Q07001	ACHD_HUMAN	T	79	ENSP00000258385:I79T;ENSP00000437740:I79T	ENSP00000258385:I79T	I	+	2	0	CHRND	233100392	1.000000	0.71417	0.977000	0.42913	0.990000	0.78478	7.387000	0.79785	1.809000	0.52856	0.459000	0.35465	ATA		0.537	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			32	89	0	0	0	1	0	32	89				
JARID2	3720	broad.mit.edu	37	6	15496799	15496799	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:15496799A>G	ENST00000341776.2	+	7	1587	c.1343A>G	c.(1342-1344)cAc>cGc	p.H448R	JARID2_ENST00000541660.1_Missense_Mutation_p.H410R|JARID2_ENST00000397311.3_Missense_Mutation_p.H276R	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	448					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GAAGAGGCACACCAGGCGGAG	0.687																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(1342-1344)cAc>cGc		jumonji, AT rich interactive domain 2							9.0	13.0	11.0					6																	15496799		2143	4200	6343	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15496799A>G	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1343A>G	6.37:g.15496799A>G	ENSP00000341280:p.His448Arg					JARID2_ENST00000541660.1_Missense_Mutation_p.H410R|JARID2_ENST00000397311.3_Missense_Mutation_p.H276R	p.H448R	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			7	1587	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	448					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.1343A>G	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	A	7.614	0.675431	0.14841	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.87966	-1.68;-1.68;-2.32	5.38	2.91	0.33838	.	1.318270	0.04579	N	0.394668	T	0.58192	0.2105	N	0.14661	0.345	0.21064	N	0.999798	B;B;B	0.22983	0.078;0.029;0.005	B;B;B	0.21708	0.036;0.016;0.007	T	0.54255	-0.8321	10	0.16420	T	0.52	0.1217	7.1697	0.25712	0.6225:0.3041:0.0734:0.0	.	410;312;448	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	R	312;448;276;410	ENSP00000341280:H448R;ENSP00000380478:H276R;ENSP00000444623:H410R	ENSP00000341280:H448R	H	+	2	0	JARID2	15604778	0.473000	0.25878	0.268000	0.24571	0.551000	0.35334	1.647000	0.37260	0.900000	0.36469	0.533000	0.62120	CAC		0.687	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		11	27	0	0	0	1	0	11	27				
PYGB	5834	broad.mit.edu	37	20	25271252	25271252	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:25271252G>A	ENST00000216962.4	+	16	2073	c.1963G>A	c.(1963-1965)Gag>Aag	p.E655K		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	655					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GTCCTTGGCTGAGAAAGGTAA	0.557																																						ENST00000216962.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1963-1965)Gag>Aag		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						198.0	179.0	185.0					20																	25271252		2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25271252G>A		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1963G>A	20.37:g.25271252G>A	ENSP00000216962:p.Glu655Lys						p.E655K	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			16	2073	+			655					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.1963G>A	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099175	0.94197	.	.	ENSG00000100994	ENST00000216962	D	0.93859	-3.3	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	D	0.98143	0.9387	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99564	1.0969	10	0.72032	D	0.01	-43.7212	16.4812	0.84158	0.0:0.0:1.0:0.0	.	655	P11216	PYGB_HUMAN	K	655	ENSP00000216962:E655K	ENSP00000216962:E655K	E	+	1	0	PYGB	25219252	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.492000	0.97957	2.286000	0.76751	0.563000	0.77884	GAG		0.557	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		37	166	0	0	0	1	0	37	166				
RNF17	56163	broad.mit.edu	37	13	25376682	25376682	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:25376682A>T	ENST00000255324.5	+	14	1974	c.1922A>T	c.(1921-1923)gAt>gTt	p.D641V	RNF17_ENST00000255325.6_Missense_Mutation_p.D641V|RNF17_ENST00000381921.1_Missense_Mutation_p.D641V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	641					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCTCTTAGAGATGCGCTAGTT	0.323																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(1921-1923)gAt>gTt		ring finger protein 17							115.0	121.0	119.0					13																	25376682		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25376682A>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1922A>T	13.37:g.25376682A>T	ENSP00000255324:p.Asp641Val					RNF17_ENST00000381921.1_Missense_Mutation_p.D641V|RNF17_ENST00000255325.5_Missense_Mutation_p.D642V	p.D641V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	14	1974	+		Lung SC(185;0.0225)|Breast(139;0.077)	641					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.1922A>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	18.91	3.722698	0.68959	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325	T;T;T	0.23950	1.88;1.88;1.88	4.75	4.75	0.60458	.	0.150515	0.42682	D	0.000662	T	0.46737	0.1408	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.982	T	0.38542	-0.9656	10	0.42905	T	0.14	.	13.3697	0.60707	1.0:0.0:0.0:0.0	.	641;641	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	V	641;641;500;642	ENSP00000255324:D641V;ENSP00000371346:D641V;ENSP00000255325:D642V	ENSP00000255324:D641V	D	+	2	0	RNF17	24274682	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.130000	0.71663	1.997000	0.58415	0.482000	0.46254	GAT		0.323	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		10	97	0	0	0	1	0	10	97				
ATAD3A	55210	broad.mit.edu	37	1	1458248	1458248	+	Missense_Mutation	SNP	C	C	T	rs552002436		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:1458248C>T	ENST00000378755.5	+	8	1113	c.1019C>T	c.(1018-1020)aCg>aTg	p.T340M	ATAD3A_ENST00000378756.3_Missense_Mutation_p.T292M|ATAD3A_ENST00000536055.1_Missense_Mutation_p.T213M	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	340	S100B-binding.				cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		TCCCGCATCACGGTGCTTGAG	0.662													c|||	1	0.000199681	0.0008	0.0	5008	,	,		13318	0.0		0.0	False		,,,				2504	0.0					ENST00000378755.5																			0				endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1018-1020)aCg>aTg		ATPase family, AAA domain containing 3A							18.0	29.0	25.0					1																	1458248		2185	4297	6482	SO:0001583	missense	55210						ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1458248C>T	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1019C>T	1.37:g.1458248C>T	ENSP00000368030:p.Thr340Met					ATAD3A_ENST00000378756.3_Missense_Mutation_p.T292M|ATAD3A_ENST00000536055.1_Missense_Mutation_p.T213M	p.T340M	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	8	1113	+	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	340					B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Missense_Mutation	SNP	ENST00000378755.5	37	c.1019C>T	CCDS31.1	.	.	.	.	.	.	.	.	.	.	c	17.20	3.329670	0.60743	.	.	ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000536055	D;D;D	0.94758	-3.26;-3.14;-3.51	5.07	5.07	0.68467	.	0.215093	0.47852	D	0.000206	D	0.96552	0.8875	M	0.77103	2.36	0.49915	D	0.999835	D;D	0.71674	0.994;0.998	P;P	0.58577	0.656;0.841	D	0.97073	0.9779	10	0.72032	D	0.01	.	17.5097	0.87756	0.0:1.0:0.0:0.0	.	292;340	D2K8Q1;Q9NVI7	.;ATD3A_HUMAN	M	292;340;213	ENSP00000368031:T292M;ENSP00000368030:T340M;ENSP00000439290:T213M	ENSP00000368030:T340M	T	+	2	0	ATAD3A	1448111	1.000000	0.71417	0.042000	0.18584	0.056000	0.15407	7.077000	0.76814	2.374000	0.81015	0.644000	0.83932	ACG		0.662	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188		14	39	0	0	0	1	0	14	39				
ZNF175	7728	broad.mit.edu	37	19	52076596	52076596	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:52076596T>C	ENST00000262259.2	+	2	372	c.14T>C	c.(13-15)gTg>gCg	p.V5A	ZNF175_ENST00000436511.2_Missense_Mutation_p.V5A|ZNF175_ENST00000596504.1_Missense_Mutation_p.V5A|ZNF175_ENST00000545217.1_Missense_Mutation_p.V5A	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	5					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CCTGCTGATGTGAATTTATCC	0.527																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(13-15)gTg>gCg		zinc finger protein 175							118.0	115.0	116.0					19																	52076596		2203	4300	6503	SO:0001583	missense	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52076596T>C	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.14T>C	19.37:g.52076596T>C	ENSP00000262259:p.Val5Ala					ZNF175_ENST00000545217.1_Missense_Mutation_p.V5A|ZNF175_ENST00000596504.1_Missense_Mutation_p.V5A|ZNF175_ENST00000436511.2_Missense_Mutation_p.V5A	p.V5A	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	2	372	+		all_neural(266;0.0299)	5					A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	c.14T>C	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	T	6.288	0.421236	0.11928	.	.	ENSG00000105497	ENST00000545217;ENST00000262259;ENST00000436511	T;T	0.06608	3.28;5.53	3.03	-1.79	0.07932	.	.	.	.	.	T	0.03178	0.0093	N	0.22421	0.69	0.09310	N	1	B	0.17465	0.022	B	0.19666	0.026	T	0.47824	-0.9087	9	0.16420	T	0.52	.	0.3093	0.00285	0.1926:0.2434:0.1978:0.3662	.	5	Q9Y473	ZN175_HUMAN	A	5	ENSP00000262259:V5A;ENSP00000440578:V5A	ENSP00000262259:V5A	V	+	2	0	ZNF175	56768408	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.115000	0.01328	-0.534000	0.06315	-0.466000	0.05196	GTG		0.527	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		5	188	0	0	0	1	0	5	188				
UPF2	26019	broad.mit.edu	37	10	11998356	11998356	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:11998356A>G	ENST00000356352.2	-	12	3010	c.2537T>C	c.(2536-2538)gTg>gCg	p.V846A	UPF2_ENST00000397053.2_Missense_Mutation_p.V846A|UPF2_ENST00000357604.5_Missense_Mutation_p.V846A			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	846	Binds to UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CACTCCATCCACAACGTGGAT	0.378																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(2536-2538)gTg>gCg		UPF2 regulator of nonsense transcripts homolog (yeast)							140.0	131.0	134.0					10																	11998356		2203	4300	6503	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:11998356A>G	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2537T>C	10.37:g.11998356A>G	ENSP00000348708:p.Val846Ala					UPF2_ENST00000397053.2_Missense_Mutation_p.V846A|UPF2_ENST00000357604.5_Missense_Mutation_p.V846A	p.V846A			Q9HAU5	RENT2_HUMAN			12	3010	-		Renal(717;0.228)	846			Binds to UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.2537T>C	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589995	0.86851	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.25579	1.79;1.79;1.79	5.53	5.53	0.82687	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.64402	D	0.000001	T	0.57272	0.2042	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64799	-0.6322	10	0.62326	D	0.03	.	15.6297	0.76893	1.0:0.0:0.0:0.0	.	846	Q9HAU5	RENT2_HUMAN	A	846	ENSP00000348708:V846A;ENSP00000350221:V846A;ENSP00000380244:V846A	ENSP00000348708:V846A	V	-	2	0	UPF2	12038362	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	8.710000	0.91388	2.097000	0.63578	0.397000	0.26171	GTG		0.378	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			26	86	0	0	0	1	0	26	86				
PSG2	5670	broad.mit.edu	37	19	43575936	43575936	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:43575936T>C	ENST00000406487.1	-	4	978	c.880A>G	c.(880-882)Aag>Gag	p.K294E		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	294	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CCGCTATGCTTTGTAGTAATT	0.468																																						ENST00000406487.1																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49						c.(880-882)Aag>Gag		pregnancy specific beta-1-glycoprotein 2							182.0	189.0	186.0					19																	43575936		2202	4298	6500	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43575936T>C		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.880A>G	19.37:g.43575936T>C	ENSP00000385706:p.Lys294Glu						p.K294E	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN			4	978	-		Prostate(69;0.00682)	294			Ig-like C2-type 2.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.880A>G	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	t	6.732	0.503871	0.12822	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.10860	2.83	1.26	1.26	0.21427	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.09468	0.0233	N	0.21194	0.64	0.09310	N	1	B;B	0.24483	0.005;0.104	B;B	0.38803	0.026;0.282	T	0.43940	-0.9360	9	0.46703	T	0.11	.	4.6249	0.12474	0.0:0.0:0.0:1.0	.	294;294	B5MCM8;P11465	.;PSG2_HUMAN	E	294	ENSP00000385706:K294E	ENSP00000332984:K294E	K	-	1	0	PSG2	48267776	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.336000	0.07863	0.553000	0.29044	0.327000	0.21459	AAG		0.468	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		9	403	0	0	0	1	0	9	403				
NOL4	8715	broad.mit.edu	37	18	31803104	31803104	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:31803104C>T	ENST00000261592.5	-	1	411	c.114G>A	c.(112-114)caG>caA	p.Q38Q	NOL4_ENST00000589544.1_Silent_p.Q38Q|NOL4_ENST00000590846.1_5'Flank|RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000535475.1_5'Flank|NOL4_ENST00000538587.1_5'Flank	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	38						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CATTGAGGAGCTGGACGATCC	0.577																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(112-114)caG>caA		nucleolar protein 4							108.0	114.0	112.0					18																	31803104		2063	4187	6250	SO:0001819	synonymous_variant	8715					nucleolus	RNA binding	g.chr18:31803104C>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.114G>A	18.37:g.31803104C>T						RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000589544.1_Silent_p.Q38Q|NOL4_ENST00000269185.4_5'UTR	p.Q38Q	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			1	411	-			38					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Silent	SNP	ENST00000261592.5	37	c.114G>A	CCDS11907.2																																																																																				0.577	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		30	87	0	0	0	1	0	30	87				
NRTN	4902	broad.mit.edu	37	19	5824275	5824275	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:5824275C>T	ENST00000303212.2	+	1	463	c.99C>T	c.(97-99)ctC>ctT	p.L33L	AC011499.1_ENST00000579264.1_RNA	NM_004558.3	NP_004549.1	Q99748	NRTN_HUMAN	neurturin	33					axon guidance (GO:0007411)|MAPK cascade (GO:0000165)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|extracellular region (GO:0005576)	receptor binding (GO:0005102)	p.L33L(1)		large_intestine(1)	1						GCCACCGCCTCGGACCTGCGC	0.672																																						ENST00000303212.2																			1	Substitution - coding silent(1)	p.L33L(1)	large_intestine(1)	large_intestine(1)	1						c.(97-99)ctC>ctT		neurturin							41.0	34.0	36.0					19																	5824275		2203	4299	6502	SO:0001819	synonymous_variant	4902				axon guidance|MAPKKK cascade|neural crest cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region	growth factor activity	g.chr19:5824275C>T	U78110	CCDS12151.1	19p13.3	2014-01-30				ENSG00000171119		"""Endogenous ligands"""	8007	protein-coding gene	gene with protein product	"""prepro-neurturin"""	602018				8945474	Standard	NM_004558		Approved	NTN	uc002mde.3	Q99748		ENST00000303212.2:c.99C>T	19.37:g.5824275C>T							p.L33L	NM_004558.3	NP_004549.1	Q99748	NRTN_HUMAN			1	463	+			33					B2RPE8	Silent	SNP	ENST00000303212.2	37	c.99C>T	CCDS12151.1																																																																																				0.672	NRTN-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451882.2	NM_004558		6	17	0	0	0	1	0	6	17				
OR5AP2	338675	broad.mit.edu	37	11	56409225	56409225	+	Missense_Mutation	SNP	C	C	T	rs374180591		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:56409225C>T	ENST00000302981.1	-	1	690	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	OR5AP2_ENST00000544374.1_Missense_Mutation_p.V232I	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						ATCTTCAAGACGGCAATGAAG	0.443																																						ENST00000544374.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(694-696)Gtc>Atc		olfactory receptor, family 5, subfamily AP, member 2		C	ILE/VAL	0,4402		0,0,2201	172.0	158.0	163.0		691	2.8	1.0	11		163	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR5AP2	NM_001002925.1	29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	231/317	56409225	1,12993	2201	4296	6497	SO:0001583	missense	338675				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56409225C>T	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.691G>A	11.37:g.56409225C>T	ENSP00000303111:p.Val231Ile					OR5AP2_ENST00000302981.1_Missense_Mutation_p.V231I	p.V232I			Q8NGF4	O5AP2_HUMAN			1	722	-			231					B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	c.694G>A	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	C	1.642	-0.516145	0.04200	0.0	1.16E-4	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.00224	8.51;8.51	5.09	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.126311	0.35708	N	0.003024	T	0.00073	0.0002	N	0.01140	-0.99	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.26643	-1.0097	10	0.02654	T	1	.	9.1672	0.37058	0.0:0.1494:0.0:0.8506	.	231	Q8NGF4	O5AP2_HUMAN	I	232;231	ENSP00000442701:V232I;ENSP00000303111:V231I	ENSP00000303111:V231I	V	-	1	0	OR5AP2	56165801	0.000000	0.05858	1.000000	0.80357	0.983000	0.72400	0.102000	0.15272	0.431000	0.26258	-0.264000	0.10439	GTC		0.443	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		45	143	0	0	0	1	0	45	143				
NAP1L3	4675	broad.mit.edu	37	X	92927642	92927642	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:92927642T>C	ENST00000373079.3	-	1	925	c.662A>G	c.(661-663)aAg>aGg	p.K221R	FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.K214R	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	221	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						AGGAACTTCCTTTTCTTCATC	0.398																																						ENST00000373079.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(661-663)aAg>aGg		nucleosome assembly protein 1-like 3							108.0	110.0	109.0					X																	92927642		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927642T>C		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.662A>G	X.37:g.92927642T>C	ENSP00000362171:p.Lys221Arg					NAP1L3_ENST00000475430.1_5'UTR	p.K221R	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	925	-			221			Glu-rich.		B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.662A>G	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	T	4.869	0.161491	0.09287	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.27402	1.67	3.44	2.24	0.28232	.	0.803958	0.10345	N	0.685779	T	0.20047	0.0482	L	0.29908	0.895	0.09310	N	1	P	0.34587	0.458	B	0.29176	0.099	T	0.13656	-1.0501	10	0.46703	T	0.11	.	7.5615	0.27853	0.0:0.0:0.2149:0.7851	.	221	Q99457	NP1L3_HUMAN	R	221;214	ENSP00000362171:K221R	ENSP00000362171:K221R	K	-	2	0	NAP1L3	92814298	0.004000	0.15560	0.032000	0.17829	0.369000	0.29798	1.385000	0.34408	0.525000	0.28522	0.430000	0.28490	AAG		0.398	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		13	56	0	0	0	1	0	13	56				
UTP20	27340	broad.mit.edu	37	12	101757406	101757406	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:101757406A>G	ENST00000261637.4	+	45	6017	c.5843A>G	c.(5842-5844)cAg>cGg	p.Q1948R		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1948					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAAGTAAAGCAGATCCTCTCC	0.388																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(5842-5844)cAg>cGg		UTP20, small subunit (SSU) processome component, homolog (yeast)							131.0	118.0	122.0					12																	101757406		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101757406A>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5843A>G	12.37:g.101757406A>G	ENSP00000261637:p.Gln1948Arg						p.Q1948R	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			45	6017	+			1948					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.5843A>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	A	12.52	1.963558	0.34659	.	.	ENSG00000120800	ENST00000261637	T	0.37411	1.2	5.92	3.57	0.40892	Armadillo-type fold (1);	0.151350	0.64402	D	0.000013	T	0.21921	0.0528	L	0.38175	1.15	0.36713	D	0.880742	B	0.19445	0.036	B	0.15484	0.013	T	0.14531	-1.0469	10	0.27082	T	0.32	-11.9515	2.2827	0.04118	0.4505:0.3046:0.2449:0.0	.	1948	O75691	UTP20_HUMAN	R	1948	ENSP00000261637:Q1948R	ENSP00000261637:Q1948R	Q	+	2	0	UTP20	100281537	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.390000	0.73204	1.057000	0.40506	0.533000	0.62120	CAG		0.388	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		19	62	0	0	0	1	0	19	62				
ZNF527	84503	broad.mit.edu	37	19	37879903	37879903	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:37879903A>G	ENST00000436120.2	+	5	1059	c.952A>G	c.(952-954)Agt>Ggt	p.S318G	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTCTTTCTCAGTGAACATCA	0.403																																						ENST00000436120.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33						c.(952-954)Agt>Ggt		zinc finger protein 527							96.0	97.0	96.0					19																	37879903		2140	4272	6412	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37879903A>G	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.952A>G	19.37:g.37879903A>G	ENSP00000390179:p.Ser318Gly					ZNF527_ENST00000587349.1_Intron	p.S318G	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1059	+			318					B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.952A>G	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.236267	0.39498	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	3.87	2.83	0.33086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.191160	0.25932	N	0.027366	T	0.32704	0.0838	L	0.38692	1.165	0.24973	N	0.991657	B;B	0.23128	0.08;0.065	B;B	0.28139	0.086;0.051	T	0.29212	-1.0019	9	0.56958	D	0.05	.	8.873	0.35327	0.8321:0.0:0.0:0.1679	.	318;286	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	G	318;286;266	.	ENSP00000325231:S286G	S	+	1	0	ZNF527	42571743	0.001000	0.12720	0.175000	0.22980	0.852000	0.48524	1.215000	0.32431	0.643000	0.30638	0.533000	0.62120	AGT		0.403	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		26	129	0	0	0	1	0	26	129				
PNPT1	87178	broad.mit.edu	37	2	55914784	55914784	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:55914784A>G	ENST00000447944.2	-	2	304	c.218T>C	c.(217-219)gTa>gCa	p.V73A		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	73					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTTTACCTGTACTACAGCAGA	0.323																																						ENST00000447944.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27						c.(217-219)gTa>gCa		polyribonucleotide nucleotidyltransferase 1							77.0	78.0	77.0					2																	55914784		2203	4300	6503	SO:0001583	missense	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55914784A>G	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.218T>C	2.37:g.55914784A>G	ENSP00000400646:p.Val73Ala						p.V73A	NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	304	-			73					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	c.218T>C	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	A	13.15	2.149912	0.37923	.	.	ENSG00000138035	ENST00000447944	T	0.67523	-0.27	4.92	4.92	0.64577	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.366007	0.27345	N	0.019793	T	0.51449	0.1675	N	0.25144	0.715	0.39194	D	0.963012	B	0.02656	0.0	B	0.09377	0.004	T	0.49360	-0.8948	10	0.22109	T	0.4	-15.3222	13.8464	0.63470	1.0:0.0:0.0:0.0	.	73	Q8TCS8	PNPT1_HUMAN	A	73	ENSP00000400646:V73A	ENSP00000260604:V73A	V	-	2	0	PNPT1	55768288	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.576000	0.74023	1.964000	0.57103	0.459000	0.35465	GTA		0.323	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		14	75	0	0	0	1	0	14	75				
AKAP10	11216	broad.mit.edu	37	17	19861847	19861847	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:19861847T>C	ENST00000225737.6	-	4	514	c.357A>G	c.(355-357)aaA>aaG	p.K119K	AKAP10_ENST00000395536.3_Silent_p.K119K|AKAP10_ENST00000572155.1_5'UTR	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	119					blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					AAAGGCTTGATTTGGTCTCTT	0.403																																						ENST00000225737.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(355-357)aaA>aaG		A kinase (PRKA) anchor protein 10							64.0	68.0	66.0					17																	19861847		2203	4300	6503	SO:0001819	synonymous_variant	11216				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity	g.chr17:19861847T>C	AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.357A>G	17.37:g.19861847T>C						AKAP10_ENST00000572155.1_5'UTR|AKAP10_ENST00000395536.3_Silent_p.K119K	p.K119K	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN			4	514	-	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)		119					B2R650|Q96AJ7	Silent	SNP	ENST00000225737.6	37	c.357A>G	CCDS11214.1																																																																																				0.403	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132380.2	NM_007202		20	60	0	0	0	1	0	20	60				
MARK3	4140	broad.mit.edu	37	14	103923477	103923477	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:103923477A>G	ENST00000429436.2	+	6	922		c.e6-1		MARK3_ENST00000216288.7_Splice_Site|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Splice_Site|MARK3_ENST00000440884.3_Splice_Site|MARK3_ENST00000553942.1_Splice_Site|MARK3_ENST00000303622.9_Splice_Site|MARK3_ENST00000335102.5_Splice_Site	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3							plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TCTCACCTATAGGTGAAGTAT	0.303																																						ENST00000429436.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.e6-1		MAP/microtubule affinity-regulating kinase 3							112.0	107.0	109.0					14																	103923477		1822	4085	5907	SO:0001630	splice_region_variant	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103923477A>G	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.413-1A>G	14.37:g.103923477A>G						MARK3_ENST00000561071.1_Intron|MARK3_ENST00000440884.3_Splice_Site|MARK3_ENST00000416682.2_Splice_Site|MARK3_ENST00000335102.5_Splice_Site|MARK3_ENST00000303622.9_Splice_Site|MARK3_ENST00000216288.7_Splice_Site|MARK3_ENST00000553942.1_Splice_Site		NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	Epithelial(46;0.241)		6	922	+		Melanoma(154;0.155)						O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Splice_Site	SNP	ENST00000429436.2	37		CCDS45165.1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.728507	0.30593	.	.	ENSG00000075413	ENST00000335102;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.407	0.74887	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MARK3	102993230	1.000000	0.71417	0.981000	0.43875	0.024000	0.10985	8.673000	0.91186	2.084000	0.62774	0.533000	0.62120	.		0.303	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918	Intron	21	42	0	0	0	1	0	21	42				
ACSM2A	123876	broad.mit.edu	37	16	20482920	20482920	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:20482920A>G	ENST00000573854.1	+	6	917	c.803A>G	c.(802-804)aAc>aGc	p.N268S	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Missense_Mutation_p.N268S|ACSM2A_ENST00000536134.1_Missense_Mutation_p.N40S|ACSM2A_ENST00000575690.1_Missense_Mutation_p.N268S|ACSM2A_ENST00000396104.2_Missense_Mutation_p.N268S|ACSM2A_ENST00000417235.2_Missense_Mutation_p.N189S	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	268					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGGATACTGAACATCTTGTGC	0.433																																						ENST00000573854.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(802-804)aAc>aGc		acyl-CoA synthetase medium-chain family member 2A							264.0	235.0	245.0					16																	20482920		2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20482920A>G	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.803A>G	16.37:g.20482920A>G	ENSP00000459451:p.Asn268Ser					ACSM2A_ENST00000536134.1_Missense_Mutation_p.N40S|ACSM2A_ENST00000219054.6_Missense_Mutation_p.N268S|ACSM2A_ENST00000417235.2_Missense_Mutation_p.N189S|ACSM2A_ENST00000575690.1_Missense_Mutation_p.N268S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.N268S	p.N268S	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN			6	917	+			268					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.803A>G	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.457953	0.01071	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	3.51	3.51	0.40186	AMP-dependent synthetase/ligase (1);	0.000000	0.48286	D	0.000181	T	0.18002	0.0432	N	0.12637	0.245	0.22591	N	0.998956	B;B	0.27117	0.038;0.168	B;B	0.15484	0.013;0.013	T	0.09751	-1.0660	10	0.17369	T	0.5	-28.5725	4.517	0.11939	0.7973:0.0:0.2027:0.0	.	189;268	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	S	189;268;40;268	ENSP00000392169:N189S;ENSP00000219054:N268S;ENSP00000445082:N40S;ENSP00000379411:N268S	ENSP00000219054:N268S	N	+	2	0	ACSM2A	20390421	0.000000	0.05858	0.032000	0.17829	0.051000	0.14879	0.589000	0.23939	1.464000	0.47987	0.248000	0.18094	AAC		0.433	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		48	192	0	0	0	1	0	48	192				
JAM2	58494	broad.mit.edu	37	21	27086964	27086964	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:27086964A>G	ENST00000480456.1	+	10	1427	c.877A>G	c.(877-879)Aca>Gca	p.T293A	JAM2_ENST00000425221.2_Missense_Mutation_p.T257A|JAM2_ENST00000312957.5_Missense_Mutation_p.T293A|JAM2_ENST00000477351.1_3'UTR	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	293					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTTCAAGCACACAAAATCCTT	0.279																																						ENST00000480456.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(877-879)Aca>Gca		junctional adhesion molecule 2							53.0	52.0	53.0					21																	27086964		1783	4054	5837	SO:0001583	missense	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27086964A>G	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.877A>G	21.37:g.27086964A>G	ENSP00000420419:p.Thr293Ala					JAM2_ENST00000477351.1_3'UTR|JAM2_ENST00000312957.5_Missense_Mutation_p.T293A|JAM2_ENST00000425221.2_Missense_Mutation_p.T257A	p.T293A	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN			10	1427	+			293	DFKHTKSFII -> VQWLTPVIPALWKAAAGGSRGQEF (in Ref. 4; AAQ88727).				B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	ENST00000480456.1	37	c.877A>G	CCDS42911.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.222380	0.39300	.	.	ENSG00000154721	ENST00000480456;ENST00000400537;ENST00000312957;ENST00000425221	D;D;D	0.81996	-1.56;-1.56;-1.56	4.75	3.57	0.40892	.	.	.	.	.	T	0.80944	0.4721	M	0.65498	2.005	0.51482	D	0.999929	P;P;P	0.49253	0.908;0.921;0.908	B;B;B	0.44224	0.444;0.401;0.444	T	0.79600	-0.1736	9	0.52906	T	0.07	.	8.8612	0.35258	0.8328:0.0:0.0:0.1672	.	257;289;293	B4DGT9;A8MTB0;P57087	.;.;JAM2_HUMAN	A	293;289;293;257	ENSP00000420419:T293A;ENSP00000318416:T293A;ENSP00000392611:T257A	ENSP00000318416:T293A	T	+	1	0	JAM2	26008835	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.370000	0.52372	0.909000	0.36697	0.528000	0.53228	ACA		0.279	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			22	49	0	0	0	1	0	22	49				
GART	2618	broad.mit.edu	37	21	34900476	34900476	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:34900476T>C	ENST00000381831.3	-	10	1326	c.1063A>G	c.(1063-1065)Aca>Gca	p.T355A	GART_ENST00000361093.5_Missense_Mutation_p.T355A|GART_ENST00000497313.1_5'Flank|GART_ENST00000381815.4_Missense_Mutation_p.T355A|GART_ENST00000381839.3_Missense_Mutation_p.T355A	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	355					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CACTCACCTGTTATCTCTACA	0.512																																						ENST00000381831.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31						c.(1063-1065)Aca>Gca		phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	Pemetrexed(DB00642)						165.0	151.0	156.0					21																	34900476		2203	4300	6503	SO:0001583	missense	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34900476T>C	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.1063A>G	21.37:g.34900476T>C	ENSP00000371253:p.Thr355Ala					GART_ENST00000381815.4_Missense_Mutation_p.T355A|GART_ENST00000381839.3_Missense_Mutation_p.T355A|GART_ENST00000361093.5_Missense_Mutation_p.T355A	p.T355A	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN			10	1326	-			355					A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	c.1063A>G	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.621769	0.46840	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.57	5.57	0.84162	Rudiment single hybrid motif (1);Phosphoribosylglycinamide synthetase, C-domain (2);	0.193546	0.53938	D	0.000047	T	0.50888	0.1642	M	0.85542	2.76	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.52396	-0.8581	10	0.51188	T	0.08	.	15.7337	0.77825	0.0:0.0:0.0:1.0	.	355	P22102	PUR2_HUMAN	A	355	ENSP00000371236:T355A;ENSP00000371253:T355A;ENSP00000371261:T355A;ENSP00000354388:T355A	ENSP00000354388:T355A	T	-	1	0	GART	33822346	1.000000	0.71417	0.979000	0.43373	0.506000	0.33950	3.490000	0.53245	2.130000	0.65690	0.454000	0.30748	ACA		0.512	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		5	146	0	0	0	1	0	5	146				
TRA2B	6434	broad.mit.edu	37	3	185636151	185636151	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:185636151A>G	ENST00000453386.2	-	8	1132		c.e8+1		TRA2B_ENST00000382191.4_Splice_Site	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)						mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						ATAAAAACTTACGAGGTGAGT	0.373																																						ENST00000453386.2																			0				breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						c.e8+1		transformer 2 beta homolog (Drosophila)							108.0	108.0	108.0					3																	185636151		2203	4300	6503	SO:0001630	splice_region_variant	6434				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	g.chr3:185636151A>G	AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.856+1T>C	3.37:g.185636151A>G						TRA2B_ENST00000382191.4_Splice_Site		NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN			8	1132	-								B4DVK2|D3DNU3|O15449|Q15815|Q64283	Splice_Site	SNP	ENST00000453386.2	37		CCDS33905.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553078	0.86127	.	.	ENSG00000136527	ENST00000453386;ENST00000259043;ENST00000414862;ENST00000382191	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3769	0.74615	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRA2B	187118845	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.262000	0.95591	2.281000	0.76405	0.533000	0.62120	.		0.373	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593	Intron	22	71	0	0	0	1	0	22	71				
WBP11	51729	broad.mit.edu	37	12	14940263	14940263	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:14940263A>G	ENST00000261167.2	-	12	1895	c.1662T>C	c.(1660-1662)atT>atC	p.I554I		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	554					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)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CTTTCTTCTCAATGGTGGCTG	0.542																																						ENST00000261167.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(1660-1662)atT>atC		WW domain binding protein 11							349.0	346.0	347.0					12																	14940263		2203	4300	6503	SO:0001819	synonymous_variant	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14940263A>G	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.1662T>C	12.37:g.14940263A>G						WBP11_ENST00000537574.1_Silent_p.I520I	p.I554I	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN			12	1895	-			554					Q96AY8	Silent	SNP	ENST00000261167.2	37	c.1662T>C	CCDS8666.1																																																																																				0.542	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		26	996	0	0	0	1	0	26	996				
TTC3	7267	broad.mit.edu	37	21	38462567	38462567	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:38462567T>C	ENST00000399017.2	+	6	3208	c.461T>C	c.(460-462)aTt>aCt	p.I154T	TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Missense_Mutation_p.I154T|TTC3_ENST00000354749.2_Missense_Mutation_p.I154T|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000399010.1_Missense_Mutation_p.I154T	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	154					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTATTGAGAATTGGTTGTAAA	0.358																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(460-462)aTt>aCt		tetratricopeptide repeat domain 3							78.0	79.0	78.0					21																	38462567		2202	4300	6502	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38462567T>C	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.461T>C	21.37:g.38462567T>C	ENSP00000381981:p.Ile154Thr					TTC3_ENST00000354749.2_Missense_Mutation_p.I154T|TTC3_ENST00000355666.1_Missense_Mutation_p.I154T|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000399010.1_Missense_Mutation_p.I154T	p.I154T	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			6	3208	+		Myeloproliferative disorder(46;0.0412)	154					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.461T>C	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.654225	0.47467	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T	0.54479	2.39;0.57;2.71;2.71;2.71	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000019	T	0.47600	0.1454	L	0.55481	1.735	0.80722	D	1	P	0.39665	0.682	B	0.34590	0.186	T	0.54483	-0.8287	10	0.72032	D	0.01	-7.3979	13.4348	0.61077	0.0:0.0:0.0:1.0	.	154	P53804	TTC3_HUMAN	T	154	ENSP00000403943:I154T;ENSP00000408456:I154T;ENSP00000347889:I154T;ENSP00000381981:I154T;ENSP00000346791:I154T	ENSP00000346791:I154T	I	+	2	0	TTC3	37384437	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	2.786000	0.47790	2.156000	0.67533	0.529000	0.55759	ATT		0.358	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			15	34	0	0	0	1	0	15	34				
NEMF	9147	broad.mit.edu	37	14	50295332	50295332	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:50295332A>G	ENST00000298310.5	-	14	1874		c.e14+1		NEMF_ENST00000546046.1_Splice_Site|NEMF_ENST00000556925.1_Splice_Site|NEMF_ENST00000545773.1_Splice_Site			O60524	NEMF_HUMAN	nuclear export mediator factor						nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TAAATGACTTACTTTTTGGCA	0.313																																						ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.e14+1		nuclear export mediator factor							83.0	79.0	81.0					14																	50295332		2203	4300	6503	SO:0001630	splice_region_variant	9147					cytoplasm|nucleus		g.chr14:50295332A>G	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.1424+1T>C	14.37:g.50295332A>G						NEMF_ENST00000556925.1_Splice_Site|NEMF_ENST00000546046.1_Splice_Site|NEMF_ENST00000545773.1_Splice_Site				O60524	NEMF_HUMAN			14	1874	-								A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Splice_Site	SNP	ENST00000298310.5	37		CCDS9694.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.565544	0.65651	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1864	0.73006	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NEMF	49365082	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.244000	0.89823	2.000000	0.58554	0.482000	0.46254	.		0.313	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713	Intron	32	62	0	0	0	1	0	32	62				
BRPF1	7862	broad.mit.edu	37	3	9782627	9782627	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:9782627T>C	ENST00000457855.1	+	3	1733		c.e3+2		BRPF1_ENST00000302054.3_Splice_Site|BRPF1_ENST00000383829.2_Splice_Site|BRPF1_ENST00000433861.2_Splice_Site|BRPF1_ENST00000424362.1_Splice_Site			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CAAGTTGGGGTACTGTGTCCA	0.537																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.e4+2		bromodomain and PHD finger containing, 1							48.0	39.0	42.0					3																	9782627		2203	4300	6503	SO:0001630	splice_region_variant	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9782627T>C	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1722+2T>C	3.37:g.9782627T>C						BRPF1_ENST00000433861.2_Splice_Site|BRPF1_ENST00000424362.1_Splice_Site|BRPF1_ENST00000302054.3_Splice_Site|BRPF1_ENST00000457855.1_Splice_Site		NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			4	2126	+	Medulloblastoma(99;0.227)							B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Splice_Site	SNP	ENST00000457855.1	37		CCDS2575.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.471338	0.43942	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	.	.	.	5.23	4.07	0.47477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2505	0.31715	0.0:0.1003:0.0:0.8997	.	.	.	.	.	-1	.	.	.	+	.	.	BRPF1	9757627	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.439000	0.44846	2.194000	0.70268	0.533000	0.62120	.		0.537	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694	Intron	8	25	0	0	0	1	0	8	25				
PLXNB3	5365	broad.mit.edu	37	X	153039011	153039011	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:153039011A>T	ENST00000361971.5	+	19	3236	c.3122A>T	c.(3121-3123)gAc>gTc	p.D1041V	PLXNB3_ENST00000538282.1_Missense_Mutation_p.D651V|PLXNB3_ENST00000538776.1_Missense_Mutation_p.D694V|SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538966.1_Missense_Mutation_p.D1064V	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1041	IPT/TIG 3.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCGGCCTAGACGTGGTGCAG	0.687																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(3190-3192)gAc>gTc		plexin B3							23.0	23.0	23.0					X																	153039011		2182	4263	6445	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153039011A>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3122A>T	X.37:g.153039011A>T	ENSP00000355378:p.Asp1041Val					PLXNB3_ENST00000361971.5_Missense_Mutation_p.D1041V|PLXNB3_ENST00000538282.1_Missense_Mutation_p.D651V|PLXNB3_ENST00000538776.1_Missense_Mutation_p.D694V	p.D1064V	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			20	3462	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1041			IPT/TIG 3.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.3191A>T	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.935671	0.52972	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	4.94	4.94	0.65067	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.100495	0.64402	D	0.000003	T	0.75852	0.3906	M	0.82823	2.61	0.80722	D	1	D;D;D	0.71674	0.973;0.998;0.973	P;D;P	0.70935	0.862;0.971;0.862	T	0.79257	-0.1878	10	0.59425	D	0.04	.	12.7063	0.57061	1.0:0.0:0.0:0.0	.	694;1064;1041	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	V	1064;1041;694;651	ENSP00000442736:D1064V;ENSP00000355378:D1041V;ENSP00000445569:D694V;ENSP00000441919:D651V	ENSP00000355378:D1041V	D	+	2	0	PLXNB3	152692205	1.000000	0.71417	0.171000	0.22900	0.015000	0.08874	4.571000	0.60879	1.637000	0.50538	0.356000	0.21956	GAC		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			20	22	0	0	0	1	0	20	22				
HSPA1L	3305	broad.mit.edu	37	6	31779499	31779499	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:31779499A>T	ENST00000375654.4	-	2	440	c.251T>A	c.(250-252)gTt>gAt	p.V84D	HSPA1L_ENST00000417199.3_Missense_Mutation_p.V84D	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	84					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGCTTGTACAACAGGATCATT	0.443																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(250-252)gTt>gAt		heat shock 70kDa protein 1-like							130.0	128.0	129.0					6																	31779499		2203	4300	6503	SO:0001583	missense	3305				response to unfolded protein		ATP binding	g.chr6:31779499A>T	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.251T>A	6.37:g.31779499A>T	ENSP00000364805:p.Val84Asp					HSPA1L_ENST00000417199.3_Missense_Mutation_p.V84D	p.V84D	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	440	-			84					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.251T>A	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	A	10.59	1.391530	0.25118	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.00986	5.47;5.47	4.36	4.36	0.52297	.	.	.	.	.	T	0.00440	0.0014	N	0.26092	0.79	0.80722	D	1	P	0.42692	0.787	B	0.36534	0.227	T	0.74830	-0.3531	9	0.72032	D	0.01	.	11.5623	0.50785	1.0:0.0:0.0:0.0	.	84	P34931	HS71L_HUMAN	D	84	ENSP00000364805:V84D;ENSP00000387691:V84D	ENSP00000364804:V84D	V	-	2	0	HSPA1L	31887478	0.881000	0.30235	0.960000	0.40013	0.729000	0.41735	3.490000	0.53245	1.816000	0.52996	0.377000	0.23210	GTT		0.443	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			9	173	0	0	0	1	0	9	173				
EHMT2	10919	broad.mit.edu	37	6	31860502	31860502	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:31860502T>A	ENST00000375537.4	-	6	683	c.677A>T	c.(676-678)aAa>aTa	p.K226I	EHMT2_ENST00000395728.3_Missense_Mutation_p.K283I|EHMT2_ENST00000375528.4_Missense_Mutation_p.K283I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.K226I	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	226					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CTTCCTCCTTTTGGCCAGATC	0.602																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(847-849)aAa>aTa		euchromatic histone-lysine N-methyltransferase 2							81.0	91.0	87.0					6																	31860502		1508	2708	4216	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31860502T>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.677A>T	6.37:g.31860502T>A	ENSP00000364687:p.Lys226Ile					EHMT2_ENST00000375528.4_Missense_Mutation_p.K283I|EHMT2_ENST00000375530.4_Missense_Mutation_p.K226I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375537.4_Missense_Mutation_p.K226I	p.K283I			Q96KQ7	EHMT2_HUMAN			5	847	-			226					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.848A>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.260824	0.80246	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.79033	-0.67;-1.23;-1.16;-0.64	4.94	4.94	0.65067	.	0.083174	0.47455	D	0.000239	T	0.68384	0.2995	N	0.08118	0	0.41517	D	0.988374	D;D;D;D	0.69078	0.995;0.997;0.995;0.984	D;D;D;D	0.78314	0.979;0.991;0.979;0.979	T	0.77953	-0.2394	10	0.87932	D	0	.	11.1741	0.48588	0.0:0.0:0.0:1.0	.	283;226;226;40	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	I	283;283;226;226;40	ENSP00000379078:K283I;ENSP00000364678:K283I;ENSP00000364680:K226I;ENSP00000364687:K226I	ENSP00000364678:K283I	K	-	2	0	EHMT2	31968481	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.304000	0.43655	2.202000	0.70862	0.533000	0.62120	AAA		0.602	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		7	136	0	0	0	1	0	7	136				
SPIRE2	84501	broad.mit.edu	37	16	89916916	89916916	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:89916916G>A	ENST00000378247.3	+	3	536	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	SPIRE2_ENST00000393062.2_Missense_Mutation_p.V165M|SPIRE2_ENST00000564878.1_3'UTR	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	165	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CCCCCGCAGCGTGCGCACCTT	0.736																																						ENST00000378247.3																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(493-495)Gtg>Atg		spire-type actin nucleation factor 2							8.0	9.0	9.0					16																	89916916		2130	4179	6309	SO:0001583	missense	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89916916G>A	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.493G>A	16.37:g.89916916G>A	ENSP00000367494:p.Val165Met					SPIRE2_ENST00000393062.2_Missense_Mutation_p.V165M|SPIRE2_ENST00000564878.1_3'UTR	p.V165M	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	3	536	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	165			KIND.		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	c.493G>A	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294170	0.60086	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.34667	1.35;1.35	5.36	4.4	0.53042	KIND (2);	0.111137	0.64402	D	0.000009	T	0.61924	0.2386	M	0.81239	2.535	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;P	0.91635	0.999;0.998;0.999;0.904	T	0.67309	-0.5703	10	0.59425	D	0.04	-10.4272	14.7142	0.69254	0.0:0.1461:0.8539:0.0	.	34;165;117;165	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	M	165	ENSP00000367494:V165M;ENSP00000376782:V165M	ENSP00000367494:V165M	V	+	1	0	SPIRE2	88444417	0.999000	0.42202	0.582000	0.28627	0.086000	0.17979	2.926000	0.48892	1.257000	0.44085	0.478000	0.44815	GTG		0.736	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		5	7	0	0	0	1	0	5	7				
PTK2	5747	broad.mit.edu	37	8	141889621	141889621	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:141889621A>G	ENST00000522684.1	-	4	540	c.311T>C	c.(310-312)gTc>gCc	p.V104A	PTK2_ENST00000521059.1_Missense_Mutation_p.V104A|PTK2_ENST00000520892.1_Missense_Mutation_p.V104A|PTK2_ENST00000517887.1_Missense_Mutation_p.V148A|PTK2_ENST00000340930.3_Missense_Mutation_p.V104A|PTK2_ENST00000535192.1_Missense_Mutation_p.V104A|PTK2_ENST00000519881.1_Missense_Mutation_p.V104A|PTK2_ENST00000519419.1_Missense_Mutation_p.V148A|PTK2_ENST00000395218.2_Missense_Mutation_p.V104A	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	104	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CACACTGGAGACGCCCATATC	0.502																																						ENST00000522684.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(310-312)gTc>gCc		protein tyrosine kinase 2							274.0	257.0	263.0					8																	141889621		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141889621A>G	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.311T>C	8.37:g.141889621A>G	ENSP00000429911:p.Val104Ala					PTK2_ENST00000340930.3_Missense_Mutation_p.V104A|PTK2_ENST00000517887.1_Missense_Mutation_p.V148A|PTK2_ENST00000521059.1_Missense_Mutation_p.V104A|PTK2_ENST00000519881.1_Missense_Mutation_p.V104A|PTK2_ENST00000535192.1_Missense_Mutation_p.V104A|PTK2_ENST00000395218.2_Missense_Mutation_p.V104A|PTK2_ENST00000519419.1_Missense_Mutation_p.V148A|PTK2_ENST00000520892.1_Missense_Mutation_p.V104A	p.V104A	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		4	540	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	104			FERM.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.311T>C	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.033012	0.93575	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395218;ENST00000340930;ENST00000519419;ENST00000520828;ENST00000520475;ENST00000519881;ENST00000520892;ENST00000523803;ENST00000521907;ENST00000517453;ENST00000520045;ENST00000521395	T;T;T;T;T;T;T	0.78003	-1.11;-1.09;-1.14;-1.11;-1.11;-1.11;-1.14	5.36	5.36	0.76844	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.86806	0.6021	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.992;0.999	D;D;D;D	0.87578	0.997;0.998;0.915;0.996	D	0.88158	0.2855	10	0.72032	D	0.01	.	15.6584	0.77162	1.0:0.0:0.0:0.0	.	104;104;126;104	B4E2N6;Q05397;Q658W2;Q8IYN9	.;FAK1_HUMAN;.;.	A	104;104;148;104;104;104;148;3;104;104;104;104;104;104;104;104	ENSP00000429911:V104A;ENSP00000438009:V104A;ENSP00000429082:V148A;ENSP00000429474:V104A;ENSP00000378644:V104A;ENSP00000341189:V104A;ENSP00000429129:V148A	ENSP00000341189:V104A	V	-	2	0	PTK2	141958803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.519000	0.90563	2.160000	0.67779	0.528000	0.53228	GTC		0.502	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		124	372	0	0	0	1	0	124	372				
TCERG1	10915	broad.mit.edu	37	5	145838817	145838817	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:145838817T>C	ENST00000296702.5	+	4	847	c.809T>C	c.(808-810)gTa>gCa	p.V270A	TCERG1_ENST00000394421.2_Missense_Mutation_p.V270A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	270	Thr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACCTGCAGTATCCACTTCA	0.557																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(808-810)gTa>gCa		transcription elongation regulator 1							167.0	157.0	160.0					5																	145838817		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145838817T>C	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.809T>C	5.37:g.145838817T>C	ENSP00000296702:p.Val270Ala					TCERG1_ENST00000394421.2_Missense_Mutation_p.V270A	p.V270A	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	847	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	270			Thr-rich.		Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.809T>C	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.280543	0.40294	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.30714	1.52;1.52	5.33	5.33	0.75918	.	0.186018	0.47455	D	0.000230	T	0.17577	0.0422	N	0.17474	0.49	0.37455	D	0.914997	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.002;0.003;0.001	T	0.16188	-1.0411	10	0.14252	T	0.57	-6.453	10.7859	0.46405	0.0:0.0764:0.0:0.9236	.	270;270;270	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	A	270	ENSP00000296702:V270A;ENSP00000377943:V270A	ENSP00000296702:V270A	V	+	2	0	TCERG1	145819010	0.997000	0.39634	0.989000	0.46669	0.904000	0.53231	3.051000	0.49885	2.137000	0.66172	0.460000	0.39030	GTA		0.557	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		4	213	0	0	0	1	0	4	213				
PCM1	5108	broad.mit.edu	37	8	17822142	17822142	+	Missense_Mutation	SNP	A	A	C	rs200994655		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:17822142A>C	ENST00000519253.1	+	18	2971	c.2720A>C	c.(2719-2721)tAc>tCc	p.Y907S	PCM1_ENST00000524226.1_Missense_Mutation_p.Y908S|PCM1_ENST00000325083.8_Missense_Mutation_p.Y907S			Q15154	PCM1_HUMAN	pericentriolar material 1	907					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GAAGACGGTTACCTTTCTGAA	0.428			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	"""RET, JAK2"""		"""papillary thyroid, CML, MPD"""	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(2719-2721)tAc>tCc		pericentriolar material 1							152.0	150.0	151.0					8																	17822142		1971	4171	6142	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17822142A>C		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.2720A>C	8.37:g.17822142A>C	ENSP00000431099:p.Tyr907Ser					PCM1_ENST00000519253.1_Missense_Mutation_p.Y907S|PCM1_ENST00000524226.1_Missense_Mutation_p.Y908S	p.Y907S	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	18	3159	+			907					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.2720A>C		.	.	.	.	.	.	.	.	.	.	A	19.19	3.780421	0.70222	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.20200	2.09;2.09;2.09	5.5	5.5	0.81552	.	0.052472	0.85682	D	0.000000	T	0.44138	0.1279	M	0.61703	1.905	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.999	D;P;D	0.80764	0.994;0.826;0.994	T	0.23476	-1.0187	10	0.44086	T	0.13	-6.9305	15.9076	0.79442	1.0:0.0:0.0:0.0	.	907;908;907	E7ETA6;E7EV56;Q15154	.;.;PCM1_HUMAN	S	907;907;908	ENSP00000327077:Y907S;ENSP00000431099:Y907S;ENSP00000430521:Y908S	ENSP00000327077:Y907S	Y	+	2	0	PCM1	17866422	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.800000	0.75165	2.222000	0.72286	0.528000	0.53228	TAC		0.428	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		5	89	0	0	0	1	0	5	89				
FLNB	2317	broad.mit.edu	37	3	58090906	58090906	+	Missense_Mutation	SNP	C	C	A	rs551771569	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:58090906C>A	ENST00000295956.4	+	11	1875	c.1710C>A	c.(1708-1710)ttC>ttA	p.F570L	FLNB_ENST00000490882.1_Missense_Mutation_p.F570L|FLNB_ENST00000348383.5_Missense_Mutation_p.F570L|FLNB_ENST00000419752.2_Missense_Mutation_p.F401L|FLNB_ENST00000429972.2_Missense_Mutation_p.F570L|FLNB_ENST00000493452.1_Missense_Mutation_p.F401L|FLNB_ENST00000358537.3_Missense_Mutation_p.F570L|FLNB_ENST00000357272.4_Missense_Mutation_p.F570L	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	570					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAGCGGACTTCGTGGTAGAAT	0.582																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(1708-1710)ttC>ttA		filamin B, beta							96.0	97.0	97.0					3																	58090906		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58090906C>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.1710C>A	3.37:g.58090906C>A	ENSP00000295956:p.Phe570Leu					FLNB_ENST00000348383.5_Missense_Mutation_p.F570L|FLNB_ENST00000429972.2_Missense_Mutation_p.F570L|FLNB_ENST00000358537.3_Missense_Mutation_p.F570L|FLNB_ENST00000493452.1_Missense_Mutation_p.F401L|FLNB_ENST00000295956.4_Missense_Mutation_p.F570L|FLNB_ENST00000490882.1_Missense_Mutation_p.F570L|FLNB_ENST00000419752.2_Missense_Mutation_p.F401L	p.F570L			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	11	1875	+			570					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.1710C>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630454	0.67015	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2	6.02	-5.23	0.02798	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97253	0.9102	H	0.95884	3.735	0.52501	D	0.99995	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.998;0.998	D;D;D;D;D;D	0.97110	0.997;1.0;0.998;1.0;0.998;0.998	D	0.96416	0.9308	10	0.87932	D	0	.	17.8715	0.88812	0.0:0.2548:0.0:0.7452	.	570;570;401;401;570;570	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	L	570;570;570;570;570;570;401;401	ENSP00000295956:F570L;ENSP00000420213:F570L;ENSP00000351339:F570L;ENSP00000415599:F570L;ENSP00000232447:F570L;ENSP00000349819:F570L;ENSP00000418510:F401L;ENSP00000414532:F401L	ENSP00000295956:F570L	F	+	3	2	FLNB	58065946	0.002000	0.14202	0.909000	0.35828	0.471000	0.32888	-1.306000	0.02735	-0.886000	0.03966	-0.768000	0.03414	TTC		0.582	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		29	98	1	0	6.07407e-21	1	6.40789e-21	29	98				
ADSL	158	broad.mit.edu	37	22	40759036	40759036	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:40759036G>A	ENST00000216194.7	+	10	1118	c.1062G>A	c.(1060-1062)acG>acA	p.T354T	ADSL_ENST00000342312.6_Silent_p.T354T|ADSL_ENST00000454266.2_Silent_p.T368T	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	354					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						TATTGAATACGCTGCAGAACA	0.408																																					Colon(4;65 130 1097 1516)	ENST00000216194.7																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						c.(1060-1062)acG>acA		adenylosuccinate lyase							181.0	179.0	180.0					22																	40759036		2203	4300	6503	SO:0001819	synonymous_variant	158				AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	g.chr22:40759036G>A	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.1062G>A	22.37:g.40759036G>A						ADSL_ENST00000342312.6_Silent_p.T354T|ADSL_ENST00000454266.2_Silent_p.T368T	p.T354T	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN			10	1118	+			354					B0QY76|O75495|Q5TI34	Silent	SNP	ENST00000216194.7	37	c.1062G>A	CCDS14001.1																																																																																				0.408	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		38	132	0	0	0	1	0	38	132				
FCGR3A	2214	broad.mit.edu	37	1	161600913	161600913	+	5'UTR	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:161600913A>G	ENST00000540048.1	-	0	4				FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.L27S|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_5'UTR|FCGR2B_ENST00000367960.5_Intron|FCGR3B_ENST00000294800.3_5'UTR|FCGR2B_ENST00000428605.2_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACAAGTCACCAAAGATATCCG	0.552																																						ENST00000531221.1																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18						c.(79-81)tTg>tCg		Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						75.0	71.0	72.0					1																	161600913		2191	4297	6488	SO:0001623	5_prime_UTR_variant	2215				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	g.chr1:161600913A>G	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.-29T>C	1.37:g.161600913A>G						FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000367964.2_5'UTR|FCGR3B_ENST00000294800.3_5'UTR|FCGR3A_ENST00000540048.1_5'UTR	p.L27S			O75015	FCG3B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	83	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		0					A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37	c.80T>C		.	.	.	.	.	.	.	.	.	.	A	8.593	0.885067	0.17540	.	.	ENSG00000162747	ENST00000531221	T	0.01804	4.63	2.66	1.49	0.22878	.	5.231580	0.00735	N	0.000979	T	0.00412	0.0013	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.46978	-0.9152	7	0.20046	T	0.44	.	4.5035	0.11876	0.8327:0.0:0.1673:0.0	.	.	.	.	S	27	ENSP00000433642:L27S	ENSP00000433642:L27S	L	-	2	0	FCGR3B	159867537	0.001000	0.12720	0.071000	0.20095	0.085000	0.17905	0.180000	0.16860	0.265000	0.21872	0.324000	0.21423	TTG		0.552	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		9	35	0	0	0	1	0	9	35				
RENBP	5973	broad.mit.edu	37	X	153205600	153205600	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:153205600C>T	ENST00000393700.3	-	9	1112	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V	RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000412763.1_3'UTR|RENBP_ENST00000369997.3_Silent_p.V330V	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	344					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	GGCGCAGCAGCACAGGGTCCC	0.597																																						ENST00000393700.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1030-1032)gtG>gtA		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						130.0	92.0	105.0					X																	153205600		2203	4300	6503	SO:0001819	synonymous_variant	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153205600C>T		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.1032G>A	X.37:g.153205600C>T						RENBP_ENST00000412763.1_3'UTR|RENBP_ENST00000369997.3_Silent_p.V330V	p.V344V	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN			9	1112	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		344					B4DNZ3|Q96BI6	Silent	SNP	ENST00000393700.3	37	c.1032G>A	CCDS14738.2																																																																																				0.597	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		29	31	0	0	0	1	0	29	31				
MYBPC3	4607	broad.mit.edu	37	11	47356682	47356682	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:47356682C>T	ENST00000545968.1	-	27	2870	c.2816G>A	c.(2815-2817)cGg>cAg	p.R939Q	MYBPC3_ENST00000256993.4_Missense_Mutation_p.R938Q|MYBPC3_ENST00000399249.2_Missense_Mutation_p.R939Q	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	939	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GAAAAGCAGCCGGGCCCCCGT	0.672																																						ENST00000399249.2																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(2815-2817)cGg>cAg		myosin binding protein C, cardiac							30.0	38.0	36.0					11																	47356682		1929	4119	6048	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47356682C>T	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2816G>A	11.37:g.47356682C>T	ENSP00000442795:p.Arg939Gln					MYBPC3_ENST00000256993.4_Missense_Mutation_p.R938Q|MYBPC3_ENST00000545968.1_Missense_Mutation_p.R939Q	p.R939Q			Q14896	MYPC3_HUMAN		Lung(87;0.176)	26	2870	-			938			Fibronectin type-III 2.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.2816G>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373244	0.82573	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.56275	0.47;0.47;0.47	5.29	4.38	0.52667	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60971	0.2310	L	0.46885	1.475	0.34757	D	0.732404	D	0.69078	0.997	D	0.64877	0.93	T	0.70912	-0.4743	9	0.72032	D	0.01	.	8.7197	0.34434	0.0:0.7802:0.0:0.2198	.	938	Q14896	MYPC3_HUMAN	Q	939;939;938	ENSP00000442795:R939Q;ENSP00000382193:R939Q;ENSP00000256993:R938Q	ENSP00000256993:R938Q	R	-	2	0	MYBPC3	47313258	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.755000	0.55197	1.243000	0.43853	0.555000	0.69702	CGG		0.672	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			14	44	0	0	0	1	0	14	44				
RBP3	5949	broad.mit.edu	37	10	48387850	48387850	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:48387850G>A	ENST00000224600.4	-	1	3141	c.3028C>T	c.(3028-3030)Cgc>Tgc	p.R1010C	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1010	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCAGGAATGCGGTCCTTGGCA	0.602																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3028-3030)Cgc>Tgc		retinol binding protein 3, interstitial	Vitamin A(DB00162)						99.0	106.0	104.0					10																	48387850		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48387850G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.3028C>T	10.37:g.48387850G>A	ENSP00000224600:p.Arg1010Cys						p.R1010C	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	3141	-			1010			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.3028C>T	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802768	0.31869	.	.	ENSG00000107618	ENST00000224600	T	0.64438	-0.1	5.28	4.36	0.52297	.	0.253639	0.45867	D	0.000323	T	0.65933	0.2739	L	0.59436	1.845	0.40184	D	0.97732	D	0.64830	0.994	P	0.50231	0.635	T	0.69953	-0.5005	10	0.56958	D	0.05	-8.7331	13.0126	0.58739	0.0:0.0:0.693:0.307	.	1010	P10745	RET3_HUMAN	C	1010	ENSP00000224600:R1010C	ENSP00000224600:R1010C	R	-	1	0	RBP3	48007856	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.875000	0.48491	1.201000	0.43203	0.655000	0.94253	CGC		0.602	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		30	107	0	0	0	1	0	30	107				
NKIRAS1	28512	broad.mit.edu	37	3	23942526	23942526	+	Missense_Mutation	SNP	C	C	T	rs370889276		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:23942526C>T	ENST00000443659.2	-	3	886	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	NKIRAS1_ENST00000415901.2_Missense_Mutation_p.E37K|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.E37K|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.E37K|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.E37K|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.E37K|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.E37K|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.E37K			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	37					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						TCCATTGTTTCGCAATCTTCC	0.398																																						ENST00000443659.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						c.(109-111)Gaa>Aaa		NFKB inhibitor interacting Ras-like 1		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	171.0	166.0	167.0		109	3.7	0.9	3		167	0,8600		0,0,4300	no	missense	NKIRAS1	NM_020345.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	37/193	23942526	1,13005	2203	4300	6503	SO:0001583	missense	28512				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr3:23942526C>T	AF229839	CCDS33717.1	3p24.1	2014-05-09	2004-05-20		ENSG00000197885	ENSG00000197885			17899	protein-coding gene	gene with protein product		604496	"""NFKB inhibitor interacting Ras-like protein 1"""			10657303	Standard	NM_020345		Approved	KBRAS1, kappaB-Ras1	uc003ccj.3	Q9NYS0	OTTHUMG00000155605	ENST00000443659.2:c.109G>A	3.37:g.23942526C>T	ENSP00000393785:p.Glu37Lys					NKIRAS1_ENST00000415901.2_Missense_Mutation_p.E37K|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.E37K|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.E37K|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.E37K|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.E37K|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.E37K|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.E37K	p.E37K			Q9NYS0	KBRS1_HUMAN			3	886	-			37					Q96K18	Missense_Mutation	SNP	ENST00000443659.2	37	c.109G>A	CCDS33717.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907205	0.52333	2.27E-4	0.0	ENSG00000197885	ENST00000388759;ENST00000443659;ENST00000421515;ENST00000425478;ENST00000437230;ENST00000412028;ENST00000415901;ENST00000416026	T;T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	5.56	3.69	0.42338	Small GTP-binding protein domain (1);	0.240727	0.43260	D	0.000588	T	0.71151	0.3306	L	0.27944	0.81	0.47183	D	0.99934	B;B	0.20780	0.01;0.048	B;B	0.15870	0.005;0.014	T	0.69829	-0.5039	10	0.66056	D	0.02	-22.182	15.7963	0.78412	0.0:0.743:0.257:0.0	.	37;37	G5E9P3;Q9NYS0	.;KBRS1_HUMAN	K	37	ENSP00000373411:E37K;ENSP00000393785:E37K;ENSP00000392307:E37K;ENSP00000400385:E37K;ENSP00000406543:E37K;ENSP00000396063:E37K;ENSP00000415225:E37K;ENSP00000394214:E37K	ENSP00000373411:E37K	E	-	1	0	NKIRAS1	23917530	1.000000	0.71417	0.914000	0.36105	0.806000	0.45545	6.074000	0.71253	1.339000	0.45563	0.491000	0.48974	GAA		0.398	NKIRAS1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340876.2	NM_020345		43	146	0	0	0	1	0	43	146				
CREB5	9586	broad.mit.edu	37	7	28848871	28848871	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:28848871G>A	ENST00000357727.2	+	9	1484	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H	CREB5_ENST00000396299.2_Missense_Mutation_p.R332H|CREB5_ENST00000396298.2_Missense_Mutation_p.R226H|CREB5_ENST00000409603.1_Missense_Mutation_p.R332H|CREB5_ENST00000396300.2_Missense_Mutation_p.R358H	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	365					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ACAGGGGGGCGCCGGCGAAGG	0.632																																						ENST00000357727.2																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						c.(1093-1095)cGc>cAc		cAMP responsive element binding protein 5							53.0	58.0	56.0					7																	28848871		2203	4300	6503	SO:0001583	missense	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28848871G>A	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.1094G>A	7.37:g.28848871G>A	ENSP00000350359:p.Arg365His					CREB5_ENST00000396298.2_Missense_Mutation_p.R226H|CREB5_ENST00000396300.2_Missense_Mutation_p.R358H|CREB5_ENST00000409603.1_Missense_Mutation_p.R332H|CREB5_ENST00000396299.2_Missense_Mutation_p.R332H	p.R365H	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN			9	1484	+			365					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	c.1094G>A	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312493	0.95655	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000426500;ENST00000396298	T;T;T;T;T	0.71461	-0.57;-0.57;-0.56;-0.57;-0.57	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78755	0.4333	L	0.61218	1.895	0.58432	D	0.999997	D;D	0.64830	0.994;0.974	P;P	0.51415	0.669;0.517	T	0.79507	-0.1775	10	0.87932	D	0	-23.6261	20.8794	0.99867	0.0:0.0:1.0:0.0	.	226;365	B4DU13;Q02930	.;CREB5_HUMAN	H	332;365;358;332;191;226	ENSP00000379593:R332H;ENSP00000350359:R365H;ENSP00000379594:R358H;ENSP00000387197:R332H;ENSP00000379592:R226H	ENSP00000350359:R365H	R	+	2	0	CREB5	28815396	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CGC		0.632	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		31	92	0	0	0	1	0	31	92				
XIRP2	129446	broad.mit.edu	37	2	168101908	168101908	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:168101908A>G	ENST00000409195.1	+	9	4095	c.4006A>G	c.(4006-4008)Aca>Gca	p.T1336A	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T1114A|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T1336A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1161					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAAGTGACCACAGTTAAAAA	0.388																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(4006-4008)Aca>Gca		xin actin-binding repeat containing 2							84.0	77.0	79.0					2																	168101908		1855	4106	5961	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101908A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4006A>G	2.37:g.168101908A>G	ENSP00000386840:p.Thr1336Ala					XIRP2_ENST00000409273.1_Missense_Mutation_p.T1114A|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T1336A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	p.T1336A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	4095	+			1161					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4006A>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.775177	0.49786	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.04502	3.62;3.62;3.61	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.18383	0.0441	M	0.69185	2.1	0.54753	D	0.999987	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.991;0.999;0.999	T	0.00119	-1.2032	10	0.87932	D	0	-17.3788	11.1885	0.48671	0.9268:0.0:0.0732:0.0	.	1161;1161;1114	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	A	1336;1336;1114	ENSP00000386840:T1336A;ENSP00000295237:T1336A;ENSP00000387255:T1114A	ENSP00000295237:T1336A	T	+	1	0	XIRP2	167810154	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	6.986000	0.76200	2.215000	0.71742	0.460000	0.39030	ACA		0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		4	81	0	0	0	1	0	4	81				
FAM71A	149647	broad.mit.edu	37	1	212799452	212799452	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:212799452G>A	ENST00000294829.3	+	1	1664	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	411						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ATGGAAGGGAGCGAACCCAGG	0.622																																						ENST00000294829.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1231-1233)gaG>gaA		family with sequence similarity 71, member A							52.0	58.0	56.0					1																	212799452		2203	4300	6503	SO:0001819	synonymous_variant	149647							g.chr1:212799452G>A		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.1233G>A	1.37:g.212799452G>A						RP11-338C15.5_ENST00000427949.1_RNA	p.E411E	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	1664	+			411					Q5VTZ1	Silent	SNP	ENST00000294829.3	37	c.1233G>A	CCDS1507.1																																																																																				0.622	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		20	72	0	0	0	1	0	20	72				
SH3PXD2A	9644	broad.mit.edu	37	10	105362410	105362410	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:105362410C>T	ENST00000369774.4	-	15	2841	c.2565G>A	c.(2563-2565)caG>caA	p.Q855Q	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Silent_p.Q722Q|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Silent_p.Q690Q|SH3PXD2A_ENST00000355946.2_Silent_p.Q827Q			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	855	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TCTCCGAGTCCTGGACCTTCT	0.632																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2563-2565)caG>caA		SH3 and PX domains 2A							64.0	65.0	65.0					10																	105362410		2203	4300	6503	SO:0001819	synonymous_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362410C>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2565G>A	10.37:g.105362410C>T						SH3PXD2A_ENST00000540321.1_Silent_p.Q722Q|SH3PXD2A_ENST00000538130.1_Silent_p.Q690Q|SH3PXD2A_ENST00000355946.2_Silent_p.Q827Q|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR	p.Q855Q			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2841	-		Colorectal(252;0.0815)|Breast(234;0.131)	855			SH3 4.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Silent	SNP	ENST00000369774.4	37	c.2565G>A		.	.	.	.	.	.	.	.	.	.	C	3.808	-0.040369	0.07497	.	.	ENSG00000107957	ENST00000420222	.	.	.	4.56	3.51	0.40186	.	.	.	.	.	T	0.54351	0.1853	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51466	-0.8702	4	.	.	.	-25.3257	6.3403	0.21319	0.0:0.6886:0.0:0.3114	.	.	.	.	R	782	.	.	G	-	1	0	SH3PXD2A	105352400	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	0.607000	0.24209	2.112000	0.64535	0.555000	0.69702	GGA		0.632	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		32	78	0	0	0	1	0	32	78				
SMTNL1	219537	broad.mit.edu	37	11	57310215	57310215	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:57310215A>G	ENST00000399154.2	+	1	100	c.100A>G	c.(100-102)Acc>Gcc	p.T34A	SMTNL1_ENST00000527972.1_Missense_Mutation_p.T34A|SMTNL1_ENST00000457912.1_Missense_Mutation_p.T52A			A8MU46	SMTL1_HUMAN	smoothelin-like 1	34					negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TGCAGAGGAGACCAAAGGCAC	0.597																																						ENST00000457912.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						c.(154-156)Acc>Gcc		smoothelin-like 1							36.0	42.0	40.0					11																	57310215		2001	4167	6168	SO:0001583	missense	219537							g.chr11:57310215A>G	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.100A>G	11.37:g.57310215A>G	ENSP00000382108:p.Thr34Ala					SMTNL1_ENST00000399154.2_Missense_Mutation_p.T34A|SMTNL1_ENST00000527972.1_Missense_Mutation_p.T34A	p.T52A			E9PPJ3	E9PPJ3_HUMAN			2	154	+			34						Missense_Mutation	SNP	ENST00000399154.2	37	c.154A>G		.	.	.	.	.	.	.	.	.	.	A	2.693	-0.272675	0.05716	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	D;D;D	0.90133	-2.57;-2.53;-2.62	5.17	-2.47	0.06442	.	1.626610	0.04540	N	0.388003	T	0.73690	0.3619	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.62416	-0.6859	10	0.33940	T	0.23	-0.634	2.7447	0.05263	0.2414:0.1384:0.4815:0.1387	.	52	C9J621	.	A	52;34;34	ENSP00000406485:T52A;ENSP00000432651:T34A;ENSP00000382108:T34A	ENSP00000382108:T34A	T	+	1	0	SMTNL1	57066791	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.259000	0.18405	-0.424000	0.07382	0.533000	0.62120	ACC		0.597	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		13	28	0	0	0	1	0	13	28				
PLEC	5339	broad.mit.edu	37	8	145001740	145001740	+	Silent	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145001740C>A	ENST00000322810.4	-	27	4174	c.4005G>T	c.(4003-4005)cgG>cgT	p.R1335R	PLEC_ENST00000345136.3_Silent_p.R1198R|PLEC_ENST00000356346.3_Silent_p.R1184R|PLEC_ENST00000354958.2_Silent_p.R1176R|PLEC_ENST00000354589.3_Silent_p.R1198R|PLEC_ENST00000527096.1_Silent_p.R1221R|PLEC_ENST00000436759.2_Silent_p.R1225R|PLEC_ENST00000357649.2_Silent_p.R1202R|PLEC_ENST00000398774.2_Silent_p.R1166R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1335	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCGCGCTGCCGCACGTCGG	0.731																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(4003-4005)cgG>cgT		plectin							6.0	7.0	6.0					8																	145001740		1869	3885	5754	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145001740C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4005G>T	8.37:g.145001740C>A						PLEC_ENST00000527096.1_Silent_p.R1221R|PLEC_ENST00000356346.3_Silent_p.R1184R|PLEC_ENST00000436759.2_Silent_p.R1225R|PLEC_ENST00000357649.2_Silent_p.R1202R|PLEC_ENST00000354589.3_Silent_p.R1198R|PLEC_ENST00000398774.2_Silent_p.R1166R|PLEC_ENST00000345136.3_Silent_p.R1198R|PLEC_ENST00000354958.2_Silent_p.R1176R	p.R1335R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			27	4174	-			1335			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.4005G>T	CCDS43772.1																																																																																				0.731	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	26	1	0	0.004672	1	0.00470748	3	26				
GPRIN2	9721	broad.mit.edu	37	10	46998978	46998978	+	Missense_Mutation	SNP	G	G	A	rs151134434	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:46998978G>A	ENST00000374317.1	+	3	371	c.98G>A	c.(97-99)cGg>cAg	p.R33Q	GPRIN2_ENST00000374314.4_Missense_Mutation_p.R33Q	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	33										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGTGAAGGCCGGGAACAGAGG	0.721													G|||	2	0.000399361	0.0	0.0029	5008	,	,		32195	0.0		0.0	False		,,,				2504	0.0					ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(97-99)cGg>cAg		G protein regulated inducer of neurite outgrowth 2		G	GLN/ARG	0,4406		0,0,2203	36.0	46.0	43.0		98	-6.0	0.0	10	dbSNP_134	43	2,8598		0,2,4298	yes	missense	GPRIN2	NM_014696.3	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	33/459	46998978	2,13004	2203	4300	6503	SO:0001583	missense	9721							g.chr10:46998978G>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.98G>A	10.37:g.46998978G>A	ENSP00000363436:p.Arg33Gln					GPRIN2_ENST00000374317.1_Missense_Mutation_p.R33Q	p.R33Q			O60269	GRIN2_HUMAN			1	1053	+			33					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.98G>A	CCDS31192.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	5.018	0.189002	0.09547	0.0	2.33E-4	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03496	3.91;3.91	5.44	-5.99	0.02213	.	0.936638	0.08830	N	0.887534	T	0.01558	0.0050	N	0.17674	0.51	0.09310	N	1	B	0.17465	0.022	B	0.08055	0.003	T	0.46205	-0.9208	10	0.26408	T	0.33	-1.0797	8.9667	0.35881	0.5697:0.1208:0.3095:0.0	.	33	O60269	GRIN2_HUMAN	Q	33	ENSP00000363436:R33Q;ENSP00000363433:R33Q	ENSP00000363433:R33Q	R	+	2	0	GPRIN2	46418984	0.000000	0.05858	0.001000	0.08648	0.090000	0.18270	-1.528000	0.02225	-1.141000	0.02873	-0.797000	0.03246	CGG		0.721	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		24	84	0	0	0	1	0	24	84				
KCNA3	3738	broad.mit.edu	37	1	111217120	111217120	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:111217120C>T	ENST00000369769.2	-	1	535	c.312G>A	c.(310-312)gaG>gaA	p.E104E		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	104					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TGACCACGCGCTCCCCGCAGC	0.726																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(310-312)gaG>gaA		potassium voltage-gated channel, shaker-related subfamily, member 3							20.0	24.0	23.0					1																	111217120		2195	4297	6492	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111217120C>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.312G>A	1.37:g.111217120C>T							p.E104E	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	535	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	104					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.312G>A	CCDS828.2																																																																																				0.726	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		17	64	0	0	0	1	0	17	64				
MYH1	4619	broad.mit.edu	37	17	10411938	10411938	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:10411938T>C	ENST00000226207.5	-	16	1733	c.1639A>G	c.(1639-1641)Aca>Gca	p.T547A	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	547	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GAGGTGTCTGTCGCCTTGGGG	0.463																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(1639-1641)Aca>Gca		myosin, heavy chain 1, skeletal muscle, adult							118.0	124.0	122.0					17																	10411938		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10411938T>C		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1639A>G	17.37:g.10411938T>C	ENSP00000226207:p.Thr547Ala					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.T547A	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			16	1733	-			547			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.1639A>G	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641850	0.67244	.	.	ENSG00000109061	ENST00000226207	T	0.74002	-0.8	4.8	4.8	0.61643	Myosin head, motor domain (2);	0.000000	0.44483	U	0.000454	D	0.84871	0.5568	M	0.84326	2.69	0.41484	D	0.98818	B	0.26258	0.145	P	0.47102	0.537	D	0.86251	0.1649	10	0.87932	D	0	.	14.8014	0.69919	0.0:0.0:0.0:1.0	.	547	P12882	MYH1_HUMAN	A	547	ENSP00000226207:T547A	ENSP00000226207:T547A	T	-	1	0	MYH1	10352663	0.861000	0.29849	0.982000	0.44146	0.982000	0.71751	1.795000	0.38784	2.153000	0.67306	0.528000	0.53228	ACA		0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		4	133	0	0	0	1	0	4	133				
RIF1	55183	broad.mit.edu	37	2	152318798	152318798	+	Missense_Mutation	SNP	A	A	C	rs369863433		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:152318798A>C	ENST00000243326.5	+	27	3753	c.3270A>C	c.(3268-3270)caA>caC	p.Q1090H	RIF1_ENST00000430328.2_Missense_Mutation_p.Q1090H|RIF1_ENST00000428287.2_Missense_Mutation_p.Q1090H|RIF1_ENST00000444746.2_Missense_Mutation_p.Q1090H|RIF1_ENST00000453091.2_Missense_Mutation_p.Q1090H			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATGTTTCCCAAGATACCTTAT	0.284																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(3268-3270)caA>caC		RAP1 interacting factor homolog (yeast)							59.0	61.0	60.0					2																	152318798		2200	4297	6497	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152318798A>C	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.3270A>C	2.37:g.152318798A>C	ENSP00000243326:p.Gln1090His					RIF1_ENST00000430328.2_Missense_Mutation_p.Q1090H|RIF1_ENST00000453091.2_Missense_Mutation_p.Q1090H|RIF1_ENST00000444746.2_Missense_Mutation_p.Q1090H|RIF1_ENST00000428287.2_Missense_Mutation_p.Q1090H	p.Q1090H			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	27	3753	+			1090					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.3270A>C	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.781701	0.49891	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.82	-2.69	0.06022	.	0.186469	0.49305	D	0.000156	T	0.59998	0.2235	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.974;0.987	T	0.59402	-0.7461	10	0.62326	D	0.03	-14.1145	13.6214	0.62138	0.5883:0.0:0.4117:0.0	.	1090;1090	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	H	1090	ENSP00000390181:Q1090H;ENSP00000414615:Q1090H;ENSP00000415691:Q1090H;ENSP00000243326:Q1090H;ENSP00000416123:Q1090H	ENSP00000243326:Q1090H	Q	+	3	2	RIF1	152027044	1.000000	0.71417	0.632000	0.29296	0.622000	0.37654	1.028000	0.30128	-1.137000	0.02888	-1.964000	0.00472	CAA		0.284	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			14	45	0	0	0	1	0	14	45				
DZIP1	22873	broad.mit.edu	37	13	96293612	96293612	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:96293612T>C	ENST00000376829.2	-	5	1385	c.534A>G	c.(532-534)aaA>aaG	p.K178K	DZIP1_ENST00000347108.3_Silent_p.K178K|DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000361156.3_Silent_p.K178K|DZIP1_ENST00000361396.2_Silent_p.K178K	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	178					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCTTCCGGCGTTTGCACTCTT	0.577																																						ENST00000347108.3																			0				endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(532-534)aaA>aaG		DAZ interacting zinc finger protein 1							134.0	86.0	103.0					13																	96293612		2203	4300	6503	SO:0001819	synonymous_variant	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96293612T>C	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.534A>G	13.37:g.96293612T>C						DZIP1_ENST00000361396.2_Silent_p.K178K|DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000376829.2_Silent_p.K178K|DZIP1_ENST00000361156.3_Silent_p.K178K	p.K178K			Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		3	966	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		178					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Silent	SNP	ENST00000376829.2	37	c.534A>G	CCDS9478.1																																																																																				0.577	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		5	59	0	0	0	1	0	5	59				
MROH2B	133558	broad.mit.edu	37	5	41058281	41058281	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:41058281C>T	ENST00000399564.4	-	7	1090	c.640G>A	c.(640-642)Ggg>Agg	p.G214R	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	214																	ACCGTGGGCCCGTGGGCCTTA	0.502																																						ENST00000399564.4																			0											c.(640-642)Ggg>Agg		maestro heat-like repeat family member 2B							59.0	57.0	57.0					5																	41058281		1922	4135	6057	SO:0001583	missense	133558							g.chr5:41058281C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.640G>A	5.37:g.41058281C>T	ENSP00000382476:p.Gly214Arg					MROH2B_ENST00000506092.2_5'UTR	p.G214R	NM_173489.4	NP_775760.3					7	1090	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.640G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	8.395	0.840698	0.16891	.	.	ENSG00000171495	ENST00000399564	T	0.05081	3.5	5.03	4.17	0.49024	Armadillo-type fold (1);	0.000000	0.50627	D	0.000105	T	0.15696	0.0378	L	0.46614	1.455	0.36623	D	0.875846	D	0.89917	1.0	D	0.85130	0.997	T	0.08953	-1.0697	10	0.34782	T	0.22	.	9.5157	0.39104	0.0:0.905:0.0:0.095	.	214	Q7Z745	HTRB2_HUMAN	R	214	ENSP00000382476:G214R	ENSP00000382476:G214R	G	-	1	0	HEATR7B2	41094038	0.998000	0.40836	0.969000	0.41365	0.187000	0.23431	2.267000	0.43329	1.354000	0.45846	0.650000	0.86243	GGG		0.502	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		16	35	0	0	0	1	0	16	35				
GUCY2F	2986	broad.mit.edu	37	X	108636205	108636205	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:108636205A>G	ENST00000218006.2	-	13	2795	c.2504T>C	c.(2503-2505)tTg>tCg	p.L835S		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	835					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CAAATCTTCCAAGTTGCTAGA	0.373																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(2503-2505)tTg>tCg		guanylate cyclase 2F, retinal							177.0	160.0	166.0					X																	108636205		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108636205A>G	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2504T>C	X.37:g.108636205A>G	ENSP00000218006:p.Leu835Ser						p.L835S	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			13	2795	-			835					Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.2504T>C	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.757248	0.69648	.	.	ENSG00000101890	ENST00000218006	D	0.88586	-2.4	4.39	4.39	0.52855	Haem NO binding associated (1);	0.000000	0.64402	D	0.000001	D	0.96225	0.8769	H	0.98068	4.14	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.96694	0.9513	10	0.87932	D	0	.	10.8657	0.46853	1.0:0.0:0.0:0.0	.	835	P51841	GUC2F_HUMAN	S	835	ENSP00000218006:L835S	ENSP00000218006:L835S	L	-	2	0	GUCY2F	108522861	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.068000	0.93961	1.929000	0.55896	0.412000	0.27726	TTG		0.373	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		25	104	0	0	0	1	0	25	104				
NRD1	4898	broad.mit.edu	37	1	52280401	52280401	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:52280401A>G	ENST00000354831.7	-	14	1917	c.1728T>C	c.(1726-1728)atT>atC	p.I576I	NRD1_ENST00000539524.1_Silent_p.I444I|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.I508I|NRD1_ENST00000544028.1_Silent_p.I376I	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	507					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CAGTCAATGTAATAGAAATGC	0.348																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(1726-1728)atT>atC		nardilysin (N-arginine dibasic convertase)							55.0	54.0	54.0					1																	52280401		2203	4300	6503	SO:0001819	synonymous_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52280401A>G	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1728T>C	1.37:g.52280401A>G						NRD1_ENST00000539524.1_Silent_p.I444I|NRD1_ENST00000544028.1_Silent_p.I376I|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.I508I	p.I576I	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			14	1917	-			507					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Silent	SNP	ENST00000354831.7	37	c.1728T>C	CCDS559.1																																																																																				0.348	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		7	29	0	0	0	1	0	7	29				
UNC79	57578	broad.mit.edu	37	14	94155029	94155029	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:94155029T>C	ENST00000393151.2	+	45	7045	c.7045T>C	c.(7045-7047)Tcc>Ccc	p.S2349P	UNC79_ENST00000256339.4_Missense_Mutation_p.S2172P|UNC79_ENST00000555664.1_Missense_Mutation_p.S2310P|UNC79_ENST00000553484.1_Missense_Mutation_p.S2371P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2349					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GAAGACATGTTCCCAGCCTCT	0.483																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(7111-7113)Tcc>Ccc		unc-79 homolog (C. elegans)							78.0	75.0	76.0					14																	94155029		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94155029T>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7045T>C	14.37:g.94155029T>C	ENSP00000376858:p.Ser2349Pro					UNC79_ENST00000555664.1_Missense_Mutation_p.S2310P|UNC79_ENST00000256339.4_Missense_Mutation_p.S2172P|UNC79_ENST00000393151.2_Missense_Mutation_p.S2349P	p.S2371P			Q9P2D8	UNC79_HUMAN			46	7265	+			2349					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7111T>C		.	.	.	.	.	.	.	.	.	.	T	20.2	3.949874	0.73787	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19806	2.12;2.13;2.12;2.12	5.52	5.52	0.82312	.	0.053188	0.85682	D	0.000000	T	0.29093	0.0723	L	0.53249	1.67	0.41641	D	0.989074	P	0.50272	0.933	P	0.46144	0.505	T	0.04635	-1.0937	10	0.72032	D	0.01	-17.5854	15.9266	0.79621	0.0:0.0:0.0:1.0	.	2371	C9JQL1	.	P	2172;2310;2371;2349;2371	ENSP00000256339:S2172P;ENSP00000450868:S2310P;ENSP00000451360:S2371P;ENSP00000376858:S2349P	ENSP00000256339:S2172P	S	+	1	0	KIAA1409	93224782	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	6.126000	0.71635	2.224000	0.72417	0.459000	0.35465	TCC		0.483	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		8	84	0	0	0	1	0	8	84				
CTTN	2017	broad.mit.edu	37	11	70253658	70253658	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:70253658C>G	ENST00000301843.8	+	4	328	c.122C>G	c.(121-123)gCc>gGc	p.A41G	CTTN_ENST00000527622.1_3'UTR|CTTN_ENST00000346329.3_Missense_Mutation_p.A41G|CTTN_ENST00000376561.3_Missense_Mutation_p.A41G	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	41					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AGATGGGGTGCCAAGACGGTG	0.572																																						ENST00000346329.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(121-123)gCc>gGc		cortactin							74.0	81.0	79.0					11																	70253658		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70253658C>G	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.122C>G	11.37:g.70253658C>G	ENSP00000301843:p.Ala41Gly					CTTN_ENST00000527622.1_3'UTR|CTTN_ENST00000376561.3_Missense_Mutation_p.A41G|CTTN_ENST00000301843.8_Missense_Mutation_p.A41G	p.A41G	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	4	430	+			41					Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.122C>G	CCDS41680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.36|14.36	2.513120|2.513120	0.44660|0.44660	.|.	.|.	ENSG00000085733|ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561|ENST00000415461	T;T;T|.	0.35421|.	1.36;1.34;1.31|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.166361|.	0.52532|.	D|.	0.000065|.	T|T	0.78811|0.78811	0.4342|0.4342	M|M	0.80028|0.80028	2.48|2.48	0.80722|0.80722	D|D	1|1	B;B;B|.	0.27679|.	0.146;0.185;0.027|.	B;B;B|.	0.32342|.	0.036;0.144;0.046|.	T|T	0.79640|0.79640	-0.1719|-0.1719	10|5	0.59425|.	D|.	0.04|.	-36.9926|-36.9926	18.9853|18.9853	0.92767|0.92767	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	41;41;41|.	Q96H99;Q14247;Q8N707|.	.;SRC8_HUMAN;.|.	G|A	41|23	ENSP00000317189:A41G;ENSP00000301843:A41G;ENSP00000365745:A41G|.	ENSP00000301843:A41G|.	A|P	+|+	2|1	0|0	CTTN|CTTN	69931306|69931306	1.000000|1.000000	0.71417|0.71417	0.400000|0.400000	0.26346|0.26346	0.032000|0.032000	0.12392|0.12392	7.210000|7.210000	0.77924|0.77924	2.469000|2.469000	0.83416|0.83416	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.572	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		4	125	0	0	0	1	0	4	125				
PCDH11X	27328	broad.mit.edu	37	X	91090570	91090570	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:91090570G>A	ENST00000373094.1	+	1	912	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	PCDH11X_ENST00000373088.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A23T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A23T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A23T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A23T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	23					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCACTCTGGCGCCCAGGAGAA	0.473																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(67-69)Gcc>Acc		protocadherin 11 X-linked							130.0	100.0	110.0					X																	91090570		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090570G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.67G>A	X.37:g.91090570G>A	ENSP00000362186:p.Ala23Thr					PCDH11X_ENST00000298274.8_Missense_Mutation_p.A23T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A23T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A23T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A23T	p.A23T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	912	+			23					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.67G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988824	0.74589	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.54866	0.55;0.6;0.61;0.55;0.62;0.59;0.6;0.62;0.62	3.93	3.93	0.45458	.	0.073883	0.53938	D	0.000057	T	0.60521	0.2275	L	0.31845	0.965	0.42091	D	0.991297	D;D;D;D;D;D;D;D	0.89917	0.998;1.0;0.999;0.999;0.999;0.999;0.998;0.998	P;D;D;D;D;P;P;P	0.70227	0.908;0.968;0.949;0.949;0.949;0.89;0.908;0.908	T	0.64114	-0.6483	10	0.52906	T	0.07	.	14.4726	0.67526	0.0:0.0:1.0:0.0	.	23;23;23;23;23;23;23;23	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	T	23	ENSP00000378746:A23T;ENSP00000362186:A23T;ENSP00000362189:A23T;ENSP00000355040:A23T;ENSP00000362180:A23T;ENSP00000423762:A23T;ENSP00000355105:A23T;ENSP00000384758:A23T;ENSP00000298274:A23T	ENSP00000298274:A23T	A	+	1	0	PCDH11X	90977226	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.929000	0.75852	1.935000	0.56089	0.415000	0.27848	GCC		0.473	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		24	33	0	0	0	1	0	24	33				
LRRC8A	56262	broad.mit.edu	37	9	131669814	131669814	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:131669814A>G	ENST00000259324.5	+	3	894	c.371A>G	c.(370-372)tAc>tGc	p.Y124C	LRRC8A_ENST00000372599.3_Missense_Mutation_p.Y124C|LRRC8A_ENST00000372600.4_Missense_Mutation_p.Y124C	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	124					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TTTGCCAAGTACTTCCCCTAC	0.567																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(370-372)tAc>tGc		leucine rich repeat containing 8 family, member A							132.0	123.0	126.0					9																	131669814		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131669814A>G	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.371A>G	9.37:g.131669814A>G	ENSP00000259324:p.Tyr124Cys					LRRC8A_ENST00000372600.4_Missense_Mutation_p.Y124C|LRRC8A_ENST00000372599.3_Missense_Mutation_p.Y124C	p.Y124C	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	894	+			124					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.371A>G	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.084609	0.55861	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.50813	0.73;0.73;0.73	5.41	5.41	0.78517	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.63994	-0.6511	10	0.87932	D	0	.	14.6237	0.68605	1.0:0.0:0.0:0.0	.	124	Q8IWT6	LRC8A_HUMAN	C	124	ENSP00000361682:Y124C;ENSP00000361680:Y124C;ENSP00000259324:Y124C	ENSP00000259324:Y124C	Y	+	2	0	LRRC8A	130709635	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.052000	0.61016	0.460000	0.39030	TAC		0.567	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		35	125	0	0	0	1	0	35	125				
ZNF302	55900	broad.mit.edu	37	19	35175530	35175530	+	Silent	SNP	T	T	C	rs371199068		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:35175530T>C	ENST00000446502.2	+	6	928	c.720T>C	c.(718-720)aaT>aaC	p.N240N	ZNF302_ENST00000505242.1_Silent_p.N196N|ZNF302_ENST00000423823.2_Silent_p.N196N|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000457781.2_Silent_p.N196N			Q9NR11	ZN302_HUMAN	zinc finger protein 302	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGACTTGTAATAGAGAGAAAA	0.413																																						ENST00000505242.1																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(586-588)aaT>aaC		zinc finger protein 302							90.0	99.0	96.0					19																	35175530		2115	4256	6371	SO:0001819	synonymous_variant	55900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35175530T>C	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.720T>C	19.37:g.35175530T>C						ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000457781.2_Silent_p.N196N|ZNF302_ENST00000446502.2_Silent_p.N240N|ZNF302_ENST00000423823.2_Silent_p.N196N	p.N196N			Q9NR11	ZN302_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		5	1082	+	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		275					Q658J3|Q9BZD8|Q9P0J4	Silent	SNP	ENST00000446502.2	37	c.588T>C																																																																																					0.413	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1			4	227	0	0	0	1	0	4	227				
TLR8	51311	broad.mit.edu	37	X	12939677	12939677	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:12939677A>G	ENST00000218032.6	+	2	2605	c.2518A>G	c.(2518-2520)Acc>Gcc	p.T840A	TLR8_ENST00000311912.5_Missense_Mutation_p.T858A	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	840					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CTTTATCACCACCATGGTTAT	0.403																																						ENST00000218032.6																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2518-2520)Acc>Gcc		toll-like receptor 8							142.0	132.0	135.0					X																	12939677		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12939677A>G	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2518A>G	X.37:g.12939677A>G	ENSP00000218032:p.Thr840Ala					TLR8_ENST00000311912.5_Missense_Mutation_p.T858A	p.T840A	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	2605	+			840					B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.2518A>G	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	A	4.481	0.089103	0.08583	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.32988	1.43;1.6	5.97	-6.97	0.01616	.	1.353990	0.05247	N	0.513315	T	0.12817	0.0311	N	0.14661	0.345	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.06405	0.002;0.002	T	0.16070	-1.0415	10	0.30854	T	0.27	.	1.6723	0.02814	0.3512:0.1766:0.3088:0.1635	.	840;858	Q9NR97;D1CS70	TLR8_HUMAN;.	A	840;858	ENSP00000218032:T840A;ENSP00000312082:T858A	ENSP00000218032:T840A	T	+	1	0	TLR8	12849598	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-0.192000	0.09587	-1.425000	0.01997	0.486000	0.48141	ACC		0.403	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		7	107	0	0	0	1	0	7	107				
SRGAP1	57522	broad.mit.edu	37	12	64458997	64458997	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:64458997G>C	ENST00000355086.3	+	8	1647	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q	SRGAP1_ENST00000357825.3_Missense_Mutation_p.E375Q|SRGAP1_ENST00000543397.1_Missense_Mutation_p.E335Q|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	375	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CGAGAATGAAGAGGTGAGCAT	0.488																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1123-1125)Gag>Cag		SLIT-ROBO Rho GTPase activating protein 1							101.0	72.0	82.0					12																	64458997		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64458997G>C	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1123G>C	12.37:g.64458997G>C	ENSP00000347198:p.Glu375Gln					RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.E335Q|SRGAP1_ENST00000357825.3_Missense_Mutation_p.E375Q	p.E375Q	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	8	1647	+			375					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1123G>C	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400583	0.96030	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.54866	0.55;0.55;0.55	5.22	5.22	0.72569	.	0.000000	0.35378	U	0.003260	T	0.71871	0.3391	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.69453	-0.5141	9	.	.	.	.	19.3586	0.94425	0.0:0.0:1.0:0.0	.	375;335;375	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	Q	375;375;335	ENSP00000347198:E375Q;ENSP00000350480:E375Q;ENSP00000437948:E335Q	.	E	+	1	0	SRGAP1	62745264	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.575000	0.98187	2.885000	0.99019	0.655000	0.94253	GAG		0.488	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			8	17	0	0	0	1	0	8	17				
GPR22	2845	broad.mit.edu	37	7	107115416	107115416	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:107115416G>A	ENST00000304402.4	+	3	2254	c.911G>A	c.(910-912)cGa>cAa	p.R304Q	COG5_ENST00000347053.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	304					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						CACCGTGAACGACGAGAAAGA	0.398																																						ENST00000304402.4																			0				large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						c.(910-912)cGa>cAa		G protein-coupled receptor 22							122.0	123.0	122.0					7																	107115416		2203	4299	6502	SO:0001583	missense	2845					integral to plasma membrane	G-protein coupled receptor activity	g.chr7:107115416G>A	U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.911G>A	7.37:g.107115416G>A	ENSP00000302676:p.Arg304Gln					COG5_ENST00000475638.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000297135.3_Intron	p.R304Q	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN			3	2254	+			304					O14554	Missense_Mutation	SNP	ENST00000304402.4	37	c.911G>A	CCDS5744.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070120	0.76301	.	.	ENSG00000172209	ENST00000304402	T	0.43294	0.95	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	M	0.68593	2.085	0.50632	D	0.999884	P	0.51791	0.948	B	0.43413	0.419	T	0.40308	-0.9570	10	0.20046	T	0.44	-4.5024	19.5126	0.95148	0.0:0.0:1.0:0.0	.	304	Q99680	GPR22_HUMAN	Q	304	ENSP00000302676:R304Q	ENSP00000302676:R304Q	R	+	2	0	GPR22	106902652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.895000	0.87343	2.618000	0.88619	0.585000	0.79938	CGA		0.398	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1			16	71	0	0	0	1	0	16	71				
PCDH9	5101	broad.mit.edu	37	13	67801644	67801644	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:67801644C>T	ENST00000377865.2	-	1	1063	c.929G>A	c.(928-930)gGg>gAg	p.G310E	PCDH9_ENST00000328454.5_Missense_Mutation_p.G310E|PCDH9_ENST00000377861.3_Missense_Mutation_p.G310E|PCDH9_ENST00000456367.1_Missense_Mutation_p.G310E|PCDH9_ENST00000544246.1_Missense_Mutation_p.G310E			Q9HC56	PCDH9_HUMAN	protocadherin 9	310	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGTAATCAGCCCAGTAGTATT	0.483																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(928-930)gGg>gAg		protocadherin 9							82.0	85.0	84.0					13																	67801644		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801644C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.929G>A	13.37:g.67801644C>T	ENSP00000367096:p.Gly310Glu					PCDH9_ENST00000328454.5_Missense_Mutation_p.G310E|PCDH9_ENST00000456367.1_Missense_Mutation_p.G310E|PCDH9_ENST00000377861.3_Missense_Mutation_p.G310E|PCDH9_ENST00000377865.2_Missense_Mutation_p.G310E	p.G310E	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1620	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	310			Cadherin 3.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.929G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459391	0.63401	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85	6.17	6.17	0.99709	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.97390	0.9146	H	0.97186	3.955	0.80722	D	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;1.0	D	0.97615	1.0132	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	310;310;310;310	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	E	310	ENSP00000442186:G310E;ENSP00000367096:G310E;ENSP00000401699:G310E;ENSP00000332060:G310E;ENSP00000367092:G310E	ENSP00000332060:G310E	G	-	2	0	PCDH9	66699645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGG		0.483	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		35	103	0	0	0	1	0	35	103				
LYSMD4	145748	broad.mit.edu	37	15	100272104	100272104	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:100272104T>C	ENST00000409796.1	-	2	163	c.101A>G	c.(100-102)gAc>gGc	p.D34G	LYSMD4_ENST00000344791.2_Missense_Mutation_p.T5A|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000545021.1_5'UTR|LYSMD4_ENST00000332728.4_Missense_Mutation_p.D34G	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	34						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			GTCCCCCGAGTCCCCACTGCC	0.587																																						ENST00000344791.2																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10						c.(13-15)Act>Gct		LysM, putative peptidoglycan-binding, domain containing 4							23.0	25.0	24.0					15																	100272104		2203	4299	6502	SO:0001583	missense	145748				cell wall macromolecule catabolic process	integral to membrane		g.chr15:100272104T>C	BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.101A>G	15.37:g.100272104T>C	ENSP00000386283:p.Asp34Gly					LYSMD4_ENST00000545021.1_5'UTR|LYSMD4_ENST00000409796.1_Missense_Mutation_p.D34G|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Missense_Mutation_p.D34G	p.T5A	NM_152449.2	NP_689662.2	Q5XG99	LYSM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)		3	285	-	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		0					A6NII6|A8K2N1|Q96LY7	Missense_Mutation	SNP	ENST00000409796.1	37	c.13A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.7|21.7	4.183248|4.183248	0.78677|0.78677	.|.	.|.	ENSG00000183060|ENSG00000183060	ENST00000409796;ENST00000332728|ENST00000344791;ENST00000450512	T;T|T	0.24908|0.29917	1.83;1.83|1.55	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	.|0.617328	.|0.12640	.|N	.|0.451431	T|T	0.20536|0.20536	0.0494|0.0494	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D|B	0.58620|0.33171	0.983|0.4	P|B	0.54544|0.33960	0.755|0.173	T|T	0.15925|0.15925	-1.0420|-1.0420	9|10	0.72032|0.87932	D|D	0.01|0	.|.	14.5591|14.5591	0.68123|0.68123	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	34|5	Q5XG99|Q5XG99-2	LYSM4_HUMAN|.	G|A	34|5	ENSP00000386283:D34G;ENSP00000333008:D34G|ENSP00000342840:T5A	ENSP00000333008:D34G|ENSP00000342840:T5A	D|T	-|-	2|1	0|0	LYSMD4|LYSMD4	98089627|98089627	1.000000|1.000000	0.71417|0.71417	0.637000|0.637000	0.29366|0.29366	0.938000|0.938000	0.57974|0.57974	5.542000|5.542000	0.67218|0.67218	1.832000|1.832000	0.53329|0.53329	0.533000|0.533000	0.62120|0.62120	GAC|ACT		0.587	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1	NM_152449		7	30	0	0	0	1	0	7	30				
PRKCZ	5590	broad.mit.edu	37	1	2082410	2082410	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:2082410A>T	ENST00000400921.2	+	6	1003	c.320A>T	c.(319-321)gAt>gTt	p.D107V	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.D107V	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	290	Interaction with SQSTM1. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	CTGGTGCATGATGACGAGGTA	0.597																																						ENST00000400921.2																			0				breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18						c.(319-321)gAt>gTt		protein kinase C, zeta							57.0	53.0	54.0					1																	2082410		2203	4300	6503	SO:0001583	missense	5590				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	g.chr1:2082410A>T	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.320A>T	1.37:g.2082410A>T	ENSP00000383712:p.Asp107Val					PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.D107V	p.D107V	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	6	1003	+	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	290			Interaction with SQSTM1 (By similarity).		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	ENST00000400921.2	37	c.320A>T	CCDS41229.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.034473	0.54896	.	.	ENSG00000067606	ENST00000378567;ENST00000400921;ENST00000461106;ENST00000400920;ENST00000486681;ENST00000470986;ENST00000497183	T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;3.02;3.02;3.02	4.8	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77322	0.4113	M	0.76002	2.32	0.80722	D	1	D;D;D	0.76494	0.989;0.989;0.999	D;D;D	0.71870	0.923;0.926;0.975	T	0.80681	-0.1274	10	0.87932	D	0	.	13.6712	0.62427	1.0:0.0:0.0:0.0	.	186;114;290	E9PCW2;B3KUN5;Q05513	.;.;KPCZ_HUMAN	V	290;107;186;107;103;107;103	ENSP00000367830:D290V;ENSP00000383712:D107V;ENSP00000426412:D186V;ENSP00000383711:D107V;ENSP00000424763:D103V;ENSP00000421219:D107V;ENSP00000422764:D103V	ENSP00000367830:D290V	D	+	2	0	PRKCZ	2072270	1.000000	0.71417	0.133000	0.22050	0.062000	0.15995	8.493000	0.90474	2.016000	0.59253	0.482000	0.46254	GAT		0.597	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		15	55	0	0	0	1	0	15	55				
PTPRD	5789	broad.mit.edu	37	9	8331712	8331712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:8331712G>A	ENST00000381196.4	-	41	5947	c.5404C>T	c.(5404-5406)Cag>Tag	p.Q1802*	PTPRD_ENST00000397606.3_Nonsense_Mutation_p.Q1395*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.Q1395*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.Q1802*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.Q1789*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.Q1392*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.Q1802*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.Q1780*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.Q1395*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.Q1396*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.Q1392*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1802	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AACTGGAACTGCCTTACTGTT	0.507										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(5404-5406)Cag>Tag		protein tyrosine phosphatase, receptor type, D							107.0	101.0	103.0					9																	8331712		2203	4300	6503	SO:0001587	stop_gained	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8331712G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5404C>T	9.37:g.8331712G>A	ENSP00000370593:p.Gln1802*	TSP Lung(15;0.13)				PTPRD_ENST00000355233.5_Nonsense_Mutation_p.Q1396*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.Q1802*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.Q1789*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.Q1392*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.Q1780*|PTPRD_ENST00000486161.1_Nonsense_Mutation_p.Q1395*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.Q1802*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.Q1395*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.Q1392*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.Q1395*	p.Q1802*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	41	5947	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1802			Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Nonsense_Mutation	SNP	ENST00000381196.4	37	c.5404C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	44	11.089119	0.99514	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9404	0.97159	0.0:0.0:1.0:0.0	.	.	.	.	X	1802;1802;1789;1780;1396;1395;1392;1392;1273;1802;1395;1395	.	.	Q	-	1	0	PTPRD	8321712	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.796000	0.99103	2.788000	0.95919	0.555000	0.69702	CAG		0.507	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			23	49	0	0	0	1	0	23	49				
C6orf165	154313	broad.mit.edu	37	6	88138459	88138459	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:88138459T>C	ENST00000507897.1	+	9	1159	c.1076T>C	c.(1075-1077)cTa>cCa	p.L359P	C6ORF165_ENST00000369562.4_Missense_Mutation_p.L359P			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	359										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GCTCACGAACTATACTTTCCT	0.413																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1075-1077)cTa>cCa		chromosome 6 open reading frame 165							174.0	152.0	160.0					6																	88138459		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88138459T>C	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1076T>C	6.37:g.88138459T>C	ENSP00000426769:p.Leu359Pro					C6ORF165_ENST00000369562.4_Missense_Mutation_p.L359P	p.L359P			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	9	1159	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	359					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.1076T>C	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	T	2.423	-0.332722	0.05314	.	.	ENSG00000213204	ENST00000369562	T	0.33216	1.42	4.77	0.291	0.15732	.	0.659689	0.15010	N	0.285614	T	0.12263	0.0298	L	0.47716	1.5	0.22684	N	0.998854	P	0.41748	0.761	B	0.41764	0.366	T	0.13980	-1.0489	10	0.32370	T	0.25	.	10.1009	0.42504	0.5866:0.0:0.0:0.4134	.	359	Q8IYR0	CF165_HUMAN	P	359	ENSP00000358575:L359P	ENSP00000358575:L359P	L	+	2	0	C6orf165	88195178	0.004000	0.15560	0.002000	0.10522	0.014000	0.08584	1.300000	0.33436	0.130000	0.18549	0.528000	0.53228	CTA		0.413	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		5	129	0	0	0	1	0	5	129				
GPR63	81491	broad.mit.edu	37	6	97246427	97246427	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:97246427G>T	ENST00000229955.3	-	2	1526	c.1181C>A	c.(1180-1182)cCg>cAg	p.P394Q	GPR63_ENST00000417980.1_Missense_Mutation_p.P394Q|RP3-417O22.3_ENST00000442184.1_RNA	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	394						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AGGGAGCTGCGGCAAAAACTT	0.483																																						ENST00000229955.3																			0				kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1180-1182)cCg>cAg		G protein-coupled receptor 63							131.0	114.0	120.0					6																	97246427		2203	4300	6503	SO:0001583	missense	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246427G>T	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.1181C>A	6.37:g.97246427G>T	ENSP00000229955:p.Pro394Gln					GPR63_ENST00000417980.1_Missense_Mutation_p.P394Q	p.P394Q	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	2	1526	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	394					Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.1181C>A	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203090	0.79127	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.37752	1.18;1.18;1.18	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.43180	-0.9407	10	0.54805	T	0.06	-10.0529	19.4212	0.94721	0.0:0.0:1.0:0.0	.	394	Q9BZJ6	GPR63_HUMAN	Q	418;394;394;394	ENSP00000393170:P394Q;ENSP00000229955:P394Q;ENSP00000358273:P394Q	ENSP00000229955:P394Q	P	-	2	0	GPR63	97353148	1.000000	0.71417	0.965000	0.40720	0.969000	0.65631	9.420000	0.97426	2.675000	0.91044	0.650000	0.86243	CCG		0.483	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			24	80	1	0	4.72057e-08	1	4.86287e-08	24	80				
MAP2	4133	broad.mit.edu	37	2	210558823	210558823	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:210558823T>C	ENST00000360351.4	+	7	2435	c.1929T>C	c.(1927-1929)agT>agC	p.S643S	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Silent_p.S639S|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	643					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TCGCACAGAGTTATCCATCAG	0.448																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(1927-1929)agT>agC		microtubule-associated protein 2	Estramustine(DB01196)						64.0	63.0	63.0					2																	210558823		2203	4300	6503	SO:0001819	synonymous_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210558823T>C		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1929T>C	2.37:g.210558823T>C						MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Silent_p.S639S	p.S643S	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2435	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	643					Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.1929T>C	CCDS2384.1																																																																																				0.448	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		21	59	0	0	0	1	0	21	59				
PCDHGB3	56102	broad.mit.edu	37	5	140751974	140751974	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140751974A>G	ENST00000576222.1	+	1	2144	c.2013A>G	c.(2011-2013)atA>atG	p.I671M	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	671	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAAGAGATACAACCTGACC	0.582																																						ENST00000576222.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(2011-2013)atA>atG									74.0	83.0	80.0					5																	140751974		2110	4232	6342	SO:0001583	missense	56102							g.chr5:140751974A>G	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2013A>G	5.37:g.140751974A>G	ENSP00000461862:p.Ile671Met					PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	p.I671M	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2144	+								A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.2013A>G	CCDS58980.1																																																																																				0.582	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		7	163	0	0	0	1	0	7	163				
FRG1B	284802	broad.mit.edu	37	20	29628301	29628301	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:29628301T>A	ENST00000278882.3	+	6	683	c.303T>A	c.(301-303)agT>agA	p.S101R	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101R|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106R			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAGCAAAAAGTAAAACAGCAG	0.353																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)agT>agA																																						SO:0001583	missense	284802							g.chr20:29628301T>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.303T>A	20.37:g.29628301T>A	ENSP00000278882:p.Ser101Arg					FRG1B_ENST00000439954.2_Missense_Mutation_p.S106R|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101R	p.S101R							6	683	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.303T>A		.	.	.	.	.	.	.	.	.	.	t	10.64	1.406027	0.25378	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	0.931	0.19460	Actin cross-linking (1);	0.125588	0.64402	D	0.000001	T	0.30665	0.0772	.	.	.	0.38521	D	0.948737	B;B	0.20164	0.006;0.042	B;B	0.22152	0.018;0.038	T	0.06881	-1.0802	9	0.33940	T	0.23	.	5.4518	0.16568	0.0:0.1614:0.0:0.8386	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	R	101;106;101	ENSP00000408863:S106R	ENSP00000278882:S101R	S	+	3	2	FRG1B	28241962	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.720000	0.38022	0.245000	0.21373	0.347000	0.21830	AGT		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	90	0	0	0	1	0	4	90				
KIF21B	23046	broad.mit.edu	37	1	200954079	200954079	+	Silent	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:200954079T>A	ENST00000422435.2	-	27	4027	c.3711A>T	c.(3709-3711)acA>acT	p.T1237T	KIF21B_ENST00000332129.2_Silent_p.T1237T|KIF21B_ENST00000360529.5_Silent_p.T1237T|KIF21B_ENST00000461742.2_Silent_p.T1237T	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1237					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ATGATGGGGGTGTGAATCCCA	0.607																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(3709-3711)acA>acT		kinesin family member 21B							83.0	75.0	78.0					1																	200954079		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200954079T>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3711A>T	1.37:g.200954079T>A						KIF21B_ENST00000461742.2_Silent_p.T1237T|KIF21B_ENST00000360529.5_Silent_p.T1237T|KIF21B_ENST00000422435.2_Silent_p.T1237T	p.T1237T	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			27	4027	-			1237					B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.3711A>T	CCDS58056.1																																																																																				0.607	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		14	63	0	0	0	1	0	14	63				
SUGP1	57794	broad.mit.edu	37	19	19414550	19414550	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:19414550C>A	ENST00000247001.5	-	5	992	c.645G>T	c.(643-645)aaG>aaT	p.K215N	SUGP1_ENST00000585763.1_Intron	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	215					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CTGGGTTATCCTTGTAGTCCT	0.552																																						ENST00000247001.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						c.(643-645)aaG>aaT		SURP and G patch domain containing 1							196.0	211.0	206.0					19																	19414550		2203	4300	6503	SO:0001583	missense	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19414550C>A	AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.645G>T	19.37:g.19414550C>A	ENSP00000247001:p.Lys215Asn					SUGP1_ENST00000585763.1_Intron	p.K215N	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN			5	992	-			215					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.645G>T	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359828	0.61403	.	.	ENSG00000105705	ENST00000247001	T	0.44881	0.91	5.02	3.97	0.46021	SWAP/Surp (3);	0.000000	0.85682	D	0.000000	T	0.59224	0.2178	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.60915	-0.7168	10	0.66056	D	0.02	.	9.0655	0.36460	0.0:0.8277:0.0:0.1723	.	215	Q8IWZ8	SUGP1_HUMAN	N	215	ENSP00000247001:K215N	ENSP00000247001:K215N	K	-	3	2	SUGP1	19275550	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.548000	0.36201	1.110000	0.41699	0.650000	0.86243	AAG		0.552	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		104	322	1	0	7.59261e-44	1	8.05509e-44	104	322				
ITFG2	55846	broad.mit.edu	37	12	2933264	2933264	+	Missense_Mutation	SNP	G	G	A	rs375751841		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:2933264G>A	ENST00000228799.2	+	12	1388	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	ITFG2_ENST00000419778.2_Missense_Mutation_p.D240N|ITFG2_ENST00000542548.1_Missense_Mutation_p.D305N	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	417					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGATCCTGACGACCTCCCTGT	0.617																																						ENST00000228799.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19						c.(1249-1251)Gac>Aac		integrin alpha FG-GAP repeat containing 2		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	197.0	170.0	179.0		1249	4.6	0.8	12		179	0,8600		0,0,4300	no	missense	ITFG2	NM_018463.3	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	417/448	2933264	1,13005	2203	4300	6503	SO:0001583	missense	55846							g.chr12:2933264G>A	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.1249G>A	12.37:g.2933264G>A	ENSP00000228799:p.Asp417Asn					ITFG2_ENST00000542548.1_Missense_Mutation_p.D305N|ITFG2_ENST00000419778.2_Missense_Mutation_p.D240N	p.D417N	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		12	1388	+			417					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	ENST00000228799.2	37	c.1249G>A	CCDS8513.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676293	0.47886	2.27E-4	0.0	ENSG00000111203	ENST00000228799;ENST00000419778;ENST00000542548	T;T;T	0.42513	0.97;0.97;0.97	5.43	4.55	0.56014	.	0.282753	0.37393	N	0.002106	T	0.32436	0.0829	L	0.32530	0.975	0.58432	D	0.999996	B	0.16802	0.019	B	0.09377	0.004	T	0.06516	-1.0822	10	0.33940	T	0.23	-18.7071	13.2916	0.60274	0.0762:0.0:0.9238:0.0	.	417	Q969R8	ITFG2_HUMAN	N	417;240;305	ENSP00000228799:D417N;ENSP00000401103:D240N;ENSP00000437870:D305N	ENSP00000228799:D417N	D	+	1	0	ITFG2	2803525	0.998000	0.40836	0.794000	0.32065	0.626000	0.37791	4.273000	0.58914	1.303000	0.44873	0.561000	0.74099	GAC		0.617	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		7	219	0	0	0	1	0	7	219				
POC1A	25886	broad.mit.edu	37	3	52109924	52109924	+	Silent	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52109924G>T	ENST00000296484.2	-	11	1242	c.1203C>A	c.(1201-1203)atC>atA	p.I401I	POC1A_ENST00000474012.1_Silent_p.I363I|POC1A_ENST00000394970.2_Silent_p.I353I	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	401					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						CTCTCTGCATGATTAGCTGCT	0.512																																						ENST00000394970.2																			0				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						c.(1057-1059)atC>atA		POC1 centriolar protein A							178.0	161.0	167.0					3																	52109924		2203	4300	6503	SO:0001819	synonymous_variant	25886					centriole|microtubule basal body		g.chr3:52109924G>T	AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"""WD repeat domain containing"""	24488	protein-coding gene	gene with protein product		614783	"""WD repeat domain 51A"", ""POC1 centriolar protein homolog A (Chlamydomonas)"""	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.1203C>A	3.37:g.52109924G>T						POC1A_ENST00000474012.1_Silent_p.I363I|POC1A_ENST00000296484.2_Silent_p.I401I	p.I353I	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN			10	1376	-			401					A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Silent	SNP	ENST00000296484.2	37	c.1059C>A	CCDS2846.1																																																																																				0.512	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	NM_015426		46	171	1	0	9.22156e-22	1	9.73746e-22	46	171				
CROCC	9696	broad.mit.edu	37	1	17265455	17265455	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:17265455A>G	ENST00000375541.5	+	12	1495	c.1426A>G	c.(1426-1428)Acc>Gcc	p.T476A	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTCTGAGCGCACCGCGGATGC	0.726																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(1426-1428)Acc>Gcc		ciliary rootlet coiled-coil, rootletin							25.0	24.0	24.0					1																	17265455		2198	4290	6488	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17265455A>G	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1426A>G	1.37:g.17265455A>G	ENSP00000364691:p.Thr476Ala					CROCC_ENST00000467938.1_3'UTR	p.T476A	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	12	1495	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	476						Missense_Mutation	SNP	ENST00000375541.5	37	c.1426A>G	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	A	8.551	0.875448	0.17395	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10192	2.9	5.39	5.39	0.77823	.	.	.	.	.	T	0.22936	0.0554	L	0.50333	1.59	0.37373	D	0.911703	B;B;D	0.64830	0.022;0.016;0.994	B;B;D	0.68483	0.009;0.012;0.958	T	0.08764	-1.0706	9	0.09338	T	0.73	.	14.5291	0.67912	1.0:0.0:0.0:0.0	.	339;339;476	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	A	476;357	ENSP00000364691:T476A	ENSP00000364691:T476A	T	+	1	0	CROCC	17138042	0.984000	0.35163	0.817000	0.32601	0.025000	0.11179	3.863000	0.56016	2.182000	0.69389	0.459000	0.35465	ACC		0.726	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		14	70	0	0	0	1	0	14	70				
THY1	7070	broad.mit.edu	37	11	119290893	119290893	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:119290893T>C	ENST00000284240.5	-	3	1280	c.241A>G	c.(241-243)Acc>Gcc	p.T81A	USP2-AS1_ENST00000500970.1_RNA|RP11-334E6.12_ENST00000578216.1_RNA|THY1_ENST00000527590.1_5'UTR|THY1_ENST00000528522.1_Missense_Mutation_p.T81A|THY1_ENST00000580275.1_Missense_Mutation_p.T64A|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000498979.2_RNA	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	81	Ig-like V-type.				angiogenesis (GO:0001525)|cytoskeleton organization (GO:0007010)|focal adhesion assembly (GO:0048041)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of GTPase activity (GO:0043547)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell activation (GO:0050870)|retinal cone cell development (GO:0046549)|single organismal cell-cell adhesion (GO:0016337)|T cell receptor signaling pathway (GO:0050852)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|integrin binding (GO:0005178)|Rho GTPase activator activity (GO:0005100)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		TATTTGCTGGTGAAGTTGGTT	0.557																																						ENST00000284240.5																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(241-243)Acc>Gcc		Thy-1 cell surface antigen							302.0	244.0	264.0					11																	119290893		2199	4295	6494	SO:0001583	missense	7070				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity	g.chr11:119290893T>C	M11749	CCDS8424.1	11q23.3	2013-01-14				ENSG00000154096		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11801	protein-coding gene	gene with protein product		188230				2864690	Standard	NM_006288		Approved	CD90	uc001pwr.3	P04216		ENST00000284240.5:c.241A>G	11.37:g.119290893T>C	ENSP00000284240:p.Thr81Ala					THY1_ENST00000527590.1_5'UTR|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000498979.2_RNA|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000578923.1_RNA|THY1_ENST00000580275.1_Missense_Mutation_p.T64A|THY1_ENST00000528522.1_Missense_Mutation_p.T81A	p.T81A	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)	3	1280	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	81			Ig-like V-type.		Q16008|Q9NSP1	Missense_Mutation	SNP	ENST00000284240.5	37	c.241A>G	CCDS8424.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.905490	0.33628	.	.	ENSG00000154096	ENST00000284240;ENST00000528522;ENST00000524970;ENST00000524659	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.94	0.888	0.19206	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.521984	0.20688	N	0.087519	T	0.38214	0.1032	L	0.59436	1.845	0.24318	N	0.995059	B	0.30179	0.271	B	0.34652	0.187	T	0.32903	-0.9889	10	0.49607	T	0.09	-15.6064	8.7828	0.34802	0.4841:0.0:0.0:0.5159	.	81	P04216	THY1_HUMAN	A	81	ENSP00000284240:T81A;ENSP00000431301:T81A;ENSP00000432808:T81A;ENSP00000435753:T81A	ENSP00000284240:T81A	T	-	1	0	THY1	118796103	0.992000	0.36948	0.095000	0.20976	0.751000	0.42716	1.721000	0.38032	0.196000	0.20367	0.482000	0.46254	ACC		0.557	THY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388370.2	NM_006288		37	120	0	0	0	1	0	37	120				
SPATA31A6	389730	broad.mit.edu	37	9	43630657	43630657	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:43630657C>T	ENST00000332857.6	-	1	73	c.45G>A	c.(43-45)tcG>tcA	p.S15S	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	15					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGGCGTTTAGCGATGAGGCAC	0.483																																						ENST00000332857.6																			0											c.(43-45)tcG>tcA		SPATA31 subfamily A, member 6																																				SO:0001819	synonymous_variant	389730							g.chr9:43630657C>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.45G>A	9.37:g.43630657C>T							p.S15S	NM_001145196.1	NP_001138668.1					1	73	-									Silent	SNP	ENST00000332857.6	37	c.45G>A	CCDS47973.1																																																																																				0.483	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		18	98	0	0	0	1	0	18	98				
DSP	1832	broad.mit.edu	37	6	7585873	7585873	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:7585873T>C	ENST00000379802.3	+	24	8719	c.8378T>C	c.(8377-8379)aTg>aCg	p.M2793T	DSP_ENST00000418664.2_Missense_Mutation_p.M2194T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2793	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AATCGCTCCATGGTAGAAGAT	0.542																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(8377-8379)aTg>aCg		desmoplakin							139.0	156.0	150.0					6																	7585873		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585873T>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8378T>C	6.37:g.7585873T>C	ENSP00000369129:p.Met2793Thr					DSP_ENST00000418664.2_Missense_Mutation_p.M2194T	p.M2793T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8719	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2793			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.8378T>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.200252	0.58126	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.68181	-0.31;-0.31	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.65322	0.2680	L	0.60455	1.87	0.39283	D	0.964601	D;P	0.54207	0.965;0.904	P;P	0.57204	0.767;0.815	T	0.63603	-0.6600	10	0.22109	T	0.4	.	15.045	0.71822	0.0:0.0:0.0:1.0	.	2241;2793	Q4LE79;P15924	.;DESP_HUMAN	T	2793;2194	ENSP00000369129:M2793T;ENSP00000396591:M2194T	ENSP00000369129:M2793T	M	+	2	0	DSP	7530872	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.094000	0.71431	2.035000	0.60131	0.459000	0.35465	ATG		0.542	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		96	346	0	0	0	1	0	96	346				
HIPK2	28996	broad.mit.edu	37	7	139285288	139285288	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:139285288T>C	ENST00000406875.3	-	11	2404	c.2310A>G	c.(2308-2310)ctA>ctG	p.L770L	HIPK2_ENST00000342645.6_Silent_p.L770L|HIPK2_ENST00000428878.2_Silent_p.L743L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	770	Interaction with POU4F1. {ECO:0000250}.|Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GACCGGTCAATAGTGCAGGCT	0.542																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2308-2310)ctA>ctG		homeodomain interacting protein kinase 2							110.0	114.0	113.0					7																	139285288		2129	4240	6369	SO:0001819	synonymous_variant	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139285288T>C	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2310A>G	7.37:g.139285288T>C						HIPK2_ENST00000428878.2_Silent_p.L743L|HIPK2_ENST00000342645.6_Silent_p.L770L	p.L770L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			11	2404	-	Melanoma(164;0.205)		770			Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.		Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	ENST00000406875.3	37	c.2310A>G																																																																																					0.542	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		44	89	0	0	0	1	0	44	89				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			9	129	0	0	0	1	0	9	129				
SP1	6667	broad.mit.edu	37	12	53804895	53804895	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:53804895T>C	ENST00000327443.4	+	6	2327	c.2229T>C	c.(2227-2229)ctT>ctC	p.L743L	SP1_ENST00000426431.2_Silent_p.L736L	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	743	Domain D.|VZV IE62-binding.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CTTCAGCCCTTATTACCACCA	0.567																																						ENST00000426431.2																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5						c.(2206-2208)ctT>ctC		Sp1 transcription factor							109.0	94.0	99.0					12																	53804895		2203	4300	6503	SO:0001819	synonymous_variant	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53804895T>C	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.2229T>C	12.37:g.53804895T>C						SP1_ENST00000327443.4_Silent_p.L743L	p.L736L	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	6	2268	+			743			Domain D.|VZV IE62-binding.		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Silent	SNP	ENST00000327443.4	37	c.2208T>C	CCDS8857.1																																																																																				0.567	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			4	165	0	0	0	1	0	4	165				
ANKRD12	23253	broad.mit.edu	37	18	9275635	9275635	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:9275635C>T	ENST00000262126.4	+	11	6117	c.5877C>T	c.(5875-5877)gcC>gcT	p.A1959A	snoU13_ENST00000459594.1_RNA|ANKRD12_ENST00000400020.3_Silent_p.A1936A|ANKRD12_ENST00000383440.2_Silent_p.A1936A	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1959						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGCTGGATGCCGAAGTATACA	0.363																																						ENST00000383440.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(5806-5808)gcC>gcT		ankyrin repeat domain 12							163.0	148.0	153.0					18																	9275635		2203	4300	6503	SO:0001819	synonymous_variant	23253					nucleus		g.chr18:9275635C>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5877C>T	18.37:g.9275635C>T						ANKRD12_ENST00000262126.3_Silent_p.A1959A|ANKRD12_ENST00000400020.3_Silent_p.A1936A	p.A1936A	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			10	6065	+			1959					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	c.5808C>T	CCDS11843.1																																																																																				0.363	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		35	108	0	0	0	1	0	35	108				
TFAP2D	83741	broad.mit.edu	37	6	50740574	50740574	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:50740574C>T	ENST00000008391.3	+	8	1584	c.1356C>T	c.(1354-1356)gaC>gaT	p.D452D		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AAAAGACAGACTAGCTACATC	0.448																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(1354-1356)gaC>gaT		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							41.0	38.0	39.0					6																	50740574		2203	4300	6503	SO:0001819	synonymous_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50740574C>T	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1356C>T	6.37:g.50740574C>T							p.D452D	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			8	1584	+	Lung NSC(77;0.0334)		452						Silent	SNP	ENST00000008391.3	37	c.1356C>T	CCDS4933.1																																																																																				0.448	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		6	25	0	0	0	1	0	6	25				
ZNF645	158506	broad.mit.edu	37	X	22291692	22291692	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:22291692A>G	ENST00000323684.1	+	1	628	c.584A>G	c.(583-585)cAt>cGt	p.H195R		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	195					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TCTGTGCAACATATGCTACAA	0.468																																						ENST00000323684.1																			0				cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(583-585)cAt>cGt		zinc finger protein 645							151.0	109.0	123.0					X																	22291692		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22291692A>G	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.584A>G	X.37:g.22291692A>G	ENSP00000323348:p.His195Arg						p.H195R	NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN			1	628	+			195					A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.584A>G	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	A	5.004	0.186393	0.09495	.	.	ENSG00000175809	ENST00000323684	T	0.36520	1.25	2.68	-5.36	0.02689	.	0.350715	0.28371	N	0.015598	T	0.13586	0.0329	N	0.17082	0.46	0.09310	N	1	B	0.22983	0.078	B	0.24848	0.056	T	0.08889	-1.0700	10	0.33141	T	0.24	.	0.1224	0.00066	0.3258:0.152:0.2203:0.3019	.	195	Q8N7E2	ZN645_HUMAN	R	195	ENSP00000323348:H195R	ENSP00000323348:H195R	H	+	2	0	ZNF645	22201613	0.020000	0.18652	0.000000	0.03702	0.001000	0.01503	1.352000	0.34033	-1.553000	0.01702	-0.391000	0.06502	CAT		0.468	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		6	79	0	0	0	1	0	6	79				
AGBL1	123624	broad.mit.edu	37	15	86806031	86806031	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:86806031T>C	ENST00000441037.2	+	9	949	c.854T>C	c.(853-855)gTg>gCg	p.V285A	AGBL1_ENST00000389298.3_Missense_Mutation_p.V16A|AGBL1_ENST00000421325.2_Missense_Mutation_p.V285A	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	285					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GAAACAGACGTGAACAAGCTG	0.433																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(853-855)gTg>gCg		ATP/GTP binding protein-like 1							147.0	149.0	148.0					15																	86806031		1963	4158	6121	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86806031T>C	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.854T>C	15.37:g.86806031T>C	ENSP00000413001:p.Val285Ala					AGBL1_ENST00000421325.2_Missense_Mutation_p.V285A|AGBL1_ENST00000389298.3_Missense_Mutation_p.V16A	p.V285A	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			9	949	+			285					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.854T>C	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096108	0.36952	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.48201	0.82;2.69	5.5	4.36	0.52297	Armadillo-type fold (1);	0.494069	0.19051	N	0.124050	T	0.44912	0.1316	M	0.63843	1.955	0.09310	N	1	P;B	0.36837	0.571;0.435	B;B	0.33960	0.173;0.057	T	0.42103	-0.9471	10	0.87932	D	0	-0.6627	12.0388	0.53442	0.0:0.0:0.1443:0.8557	.	16;285	Q96MI9-3;Q96MI9	.;CBPC4_HUMAN	A	314;285;16	ENSP00000397173:V285A;ENSP00000373949:V16A	ENSP00000373949:V16A	V	+	2	0	AGBL1	84607035	0.997000	0.39634	0.004000	0.12327	0.371000	0.29859	7.227000	0.78070	0.902000	0.36520	0.533000	0.62120	GTG		0.433	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		4	19	0	0	0	1	0	4	19				
CYP46A1	10858	broad.mit.edu	37	14	100182518	100182518	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:100182518G>A	ENST00000261835.3	+	9	993	c.889G>A	c.(889-891)Gtc>Atc	p.V297I	CYP46A1_ENST00000554176.1_Missense_Mutation_p.V144I|CYP46A1_ENST00000423126.2_Missense_Mutation_p.V200I	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	297					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGACAACTTCGTCACCTTCTT	0.542																																						ENST00000554176.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25						c.(430-432)Gtc>Atc		cytochrome P450, family 46, subfamily A, polypeptide 1							112.0	108.0	109.0					14																	100182518		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100182518G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.889G>A	14.37:g.100182518G>A	ENSP00000261835:p.Val297Ile					CYP46A1_ENST00000261835.3_Missense_Mutation_p.V297I|CYP46A1_ENST00000423126.2_Missense_Mutation_p.V200I	p.V144I			Q9Y6A2	CP46A_HUMAN			4	1096	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	297					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.430G>A	CCDS9954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.93|10.93	1.490081|1.490081	0.26686|0.26686	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000380228|ENST00000261835;ENST00000423126;ENST00000554176;ENST00000556313	.|T;T;T;T	.|0.78816	.|-0.3;-1.21;-1.21;-1.21	4.53|4.53	3.62|3.62	0.41486|0.41486	.|.	.|0.316392	.|0.31415	.|N	.|0.007694	T|T	0.50446|0.50446	0.1616|0.1616	N|N	0.05330|0.05330	-0.07|-0.07	0.37444|0.37444	D|D	0.914545|0.914545	.|B;B	.|0.20459	.|0.045;0.045	.|B;B	.|0.19148	.|0.024;0.024	T|T	0.51787|0.51787	-0.8661|-0.8661	5|10	.|0.02654	.|T	.|1	.|.	7.8179|7.8179	0.29271|0.29271	0.1124:0.0:0.8876:0.0|0.1124:0.0:0.8876:0.0	.|.	.|144;297	.|Q8N2B0;Q9Y6A2	.|.;CP46A_HUMAN	H|I	283|297;200;144;50	.|ENSP00000261835:V297I;ENSP00000405779:V200I;ENSP00000450553:V144I;ENSP00000451602:V50I	.|ENSP00000261835:V297I	R|V	+|+	2|1	0|0	CYP46A1|CYP46A1	99252271|99252271	0.995000|0.995000	0.38212|0.38212	0.996000|0.996000	0.52242|0.52242	0.990000|0.990000	0.78478|0.78478	2.485000|2.485000	0.45250|0.45250	2.254000|2.254000	0.74563|0.74563	0.561000|0.561000	0.74099|0.74099	CGT|GTC		0.542	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			21	69	0	0	0	1	0	21	69				
AMFR	267	broad.mit.edu	37	16	56441904	56441904	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:56441904A>G	ENST00000290649.5	-	4	848	c.638T>C	c.(637-639)aTg>aCg	p.M213T	RP11-413H22.2_ENST00000563090.1_RNA	NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	213					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CAAGGTGTGCATTCCGTGGGT	0.537																																					Pancreas(2;144 323 39528)	ENST00000290649.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(637-639)aTg>aCg		autocrine motility factor receptor, E3 ubiquitin protein ligase							77.0	74.0	75.0					16																	56441904		2198	4300	6498	SO:0001583	missense	267				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:56441904A>G	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.638T>C	16.37:g.56441904A>G	ENSP00000290649:p.Met213Thr						p.M213T	NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN			4	848	-			213					P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	c.638T>C	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398425	0.62177	.	.	ENSG00000159461	ENST00000290649	T	0.39229	1.09	6.17	6.17	0.99709	.	0.032087	0.85682	D	0.000000	T	0.40743	0.1129	L	0.54323	1.7	0.80722	D	1	B	0.22414	0.069	B	0.24394	0.053	T	0.24440	-1.0160	10	0.15499	T	0.54	-24.8069	16.8222	0.85835	1.0:0.0:0.0:0.0	.	213	Q9UKV5	AMFR2_HUMAN	T	213	ENSP00000290649:M213T	ENSP00000290649:M213T	M	-	2	0	AMFR	54999405	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	9.281000	0.95811	2.371000	0.80710	0.533000	0.62120	ATG		0.537	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			21	43	0	0	0	1	0	21	43				
SLC6A20	54716	broad.mit.edu	37	3	45814020	45814020	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:45814020G>T	ENST00000358525.4	-	5	785	c.670C>A	c.(670-672)Ctc>Atc	p.L224I	SLC6A20_ENST00000353278.4_Intron|SLC6A20_ENST00000456124.2_Missense_Mutation_p.L224I	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	224					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		ATGTACATGAGGCCATTGGTG	0.597																																						ENST00000358525.4																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(670-672)Ctc>Atc		solute carrier family 6 (proline IMINO transporter), member 20							83.0	90.0	88.0					3																	45814020		2065	4199	6264	SO:0001583	missense	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45814020G>T	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.670C>A	3.37:g.45814020G>T	ENSP00000346298:p.Leu224Ile					SLC6A20_ENST00000353278.4_Intron|SLC6A20_ENST00000456124.2_Missense_Mutation_p.L224I	p.L224I	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	5	785	-			224					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	ENST00000358525.4	37	c.670C>A	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	G	4.831	0.154401	0.09236	.	.	ENSG00000163817	ENST00000358525;ENST00000456124;ENST00000413781	T;T;T	0.70282	-0.47;-0.47;-0.47	5.33	5.33	0.75918	.	0.169981	0.40469	N	0.001094	T	0.52158	0.1717	N	0.12961	0.28	0.35018	D	0.757559	B	0.16166	0.016	B	0.21708	0.036	T	0.54675	-0.8258	10	0.09084	T	0.74	.	14.3139	0.66434	0.0739:0.0:0.9261:0.0	.	224	Q9NP91	S6A20_HUMAN	I	224;224;177	ENSP00000346298:L224I;ENSP00000404310:L224I;ENSP00000395506:L177I	ENSP00000346298:L224I	L	-	1	0	SLC6A20	45789024	0.996000	0.38824	0.930000	0.37139	0.898000	0.52572	2.191000	0.42640	2.487000	0.83934	0.563000	0.77884	CTC		0.597	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		12	28	1	0	2.80697e-09	1	2.90086e-09	12	28				
SEC24A	10802	broad.mit.edu	37	5	133997209	133997209	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:133997209T>C	ENST00000398844.2	+	2	786	c.498T>C	c.(496-498)agT>agC	p.S166S	SEC24A_ENST00000322887.4_Silent_p.S166S	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	166	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAATACAAGTTTAACCACAA	0.363																																						ENST00000398844.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(496-498)agT>agC		SEC24 family member A							95.0	91.0	92.0					5																	133997209		1940	4140	6080	SO:0001819	synonymous_variant	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:133997209T>C	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.498T>C	5.37:g.133997209T>C						SEC24A_ENST00000322887.4_Silent_p.S166S	p.S166S	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	786	+			166			Pro-rich.		A8MVW3|Q8WUV2|Q96GP7	Silent	SNP	ENST00000398844.2	37	c.498T>C	CCDS43363.1																																																																																				0.363	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			24	74	0	0	0	1	0	24	74				
MEGF8	1954	broad.mit.edu	37	19	42880472	42880472	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:42880472C>T	ENST00000251268.6	+	42	8083	c.8083C>T	c.(8083-8085)Cgc>Tgc	p.R2695C	MEGF8_ENST00000334370.4_Missense_Mutation_p.R2628C|MEGF8_ENST00000378073.4_Missense_Mutation_p.R289C	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2695					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GATGGCCAGCCGCCCCTTCGC	0.682																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(7882-7884)Cgc>Tgc		multiple EGF-like-domains 8							32.0	29.0	30.0					19																	42880472		2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42880472C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.8083C>T	19.37:g.42880472C>T	ENSP00000251268:p.Arg2695Cys					MEGF8_ENST00000251268.6_Missense_Mutation_p.R2695C|MEGF8_ENST00000378073.4_Missense_Mutation_p.R289C	p.R2628C	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			41	8517	+		Prostate(69;0.00682)	2695					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.7882C>T		.	.	.	.	.	.	.	.	.	.	C	16.59	3.166804	0.57476	.	.	ENSG00000105429	ENST00000334370;ENST00000251268;ENST00000378073	T;T;T	0.69306	-0.38;-0.39;0.6	3.9	3.9	0.45041	.	0.000000	0.64402	D	0.000009	T	0.79106	0.4390	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.81102	-0.1085	10	0.87932	D	0	-32.9804	10.5904	0.45306	0.1928:0.8072:0.0:0.0	.	289;2695;2628	F5GZG7;Q7Z7M0;Q7Z7M0-2	.;MEGF8_HUMAN;.	C	2628;2695;289	ENSP00000334219:R2628C;ENSP00000251268:R2695C;ENSP00000367313:R289C	ENSP00000251268:R2695C	R	+	1	0	MEGF8	47572312	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.451000	0.35145	2.208000	0.71279	0.462000	0.41574	CGC		0.682	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		20	41	0	0	0	1	0	20	41				
COX11	1353	broad.mit.edu	37	17	53042129	53042129	+	Nonsense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:53042129T>A	ENST00000299335.3	-	2	589	c.451A>T	c.(451-453)Aaa>Taa	p.K151*	COX11_ENST00000571584.1_Nonsense_Mutation_p.K151*	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	151					hydrogen ion transmembrane transport (GO:1902600)|negative regulation of glucokinase activity (GO:0033132)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						AAGCTAATTTTAATGATTCGA	0.383																																						ENST00000299335.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						c.(451-453)Aaa>Taa		cytochrome c oxidase assembly homolog 11 (yeast)							103.0	93.0	96.0					17																	53042129		2203	4300	6503	SO:0001587	stop_gained	1353				respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity	g.chr17:53042129T>A	AF044321	CCDS11583.1, CCDS58579.1	17q22	2012-10-15	2012-10-15			ENSG00000166260		"""Mitochondrial respiratory chain complex assembly factors"""	2261	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit 11"", ""cytochrome c oxidase assembly protein COX11"""	603648	"""COX11 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX11 cytochrome c oxidase assembly homolog (yeast)"""			9878253	Standard	NM_004375		Approved	COX11P	uc010wng.1	Q9Y6N1		ENST00000299335.3:c.451A>T	17.37:g.53042129T>A	ENSP00000299335:p.Lys151*					COX11_ENST00000571584.1_Nonsense_Mutation_p.K151*	p.K151*	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN			2	589	-			151					D3DTY5|I3L220|Q6FHB7|Q9BRX0|Q9UME8	Nonsense_Mutation	SNP	ENST00000299335.3	37	c.451A>T	CCDS11583.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.003545	0.93287	.	.	ENSG00000166260	ENST00000299335	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.6116	14.143	0.65331	0.0:0.0:0.0:1.0	.	.	.	.	X	151	.	ENSP00000299335:K151X	K	-	1	0	COX11	50397128	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.897000	0.69831	2.263000	0.75096	0.533000	0.62120	AAA		0.383	COX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439182.1	NM_004375		4	71	0	0	0	1	0	4	71				
DPM1	8813	broad.mit.edu	37	20	49575406	49575406	+	5'Flank	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:49575406C>A	ENST00000371588.5	-	0	0				MOCS3_ENST00000244051.1_Silent_p.A9A|DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000371582.4_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						AGGTACTCGCCTTACAAGCTG	0.562																																						ENST00000244051.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(25-27)gcC>gcA		molybdenum cofactor synthesis 3							52.0	50.0	50.0					20																	49575406		2171	4239	6410	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49575406C>A	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49575406C>A	Exception_encountered						p.A9A	NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN			1	44	+			9					O15157|Q6IB78|Q96HK0	Silent	SNP	ENST00000371588.5	37	c.27C>A	CCDS13434.1																																																																																				0.562	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		26	92	1	0	1.55811e-20	1	1.6422e-20	26	92				
D2HGDH	728294	broad.mit.edu	37	2	242680504	242680504	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:242680504A>G	ENST00000321264.4	+	3	558	c.349A>G	c.(349-351)Agg>Ggg	p.R117G	D2HGDH_ENST00000537090.1_Splice_Site_p.R117G|D2HGDH_ENST00000403782.1_5'UTR|D2HGDH_ENST00000342518.6_Splice_Site_p.R117G	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	117	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CCACATCCTCAGGTGAGGTGG	0.637																																						ENST00000321264.4																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.e3+1		D-2-hydroxyglutarate dehydrogenase							50.0	42.0	44.0					2																	242680504		2203	4296	6499	SO:0001630	splice_region_variant	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242680504A>G	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.350+1A>G	2.37:g.242680504A>G						D2HGDH_ENST00000403782.1_5'UTR|D2HGDH_ENST00000342518.6_Splice_Site_p.R117_splice|D2HGDH_ENST00000537090.1_Splice_Site_p.R117_splice	p.R117_splice	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	3	558	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	117			FAD-binding PCMH-type.		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Splice_Site	SNP	ENST00000321264.4	37	c.350_splice	CCDS33426.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.180107	0.57800	.	.	ENSG00000180902	ENST00000537090;ENST00000321264;ENST00000342518	D;D;D	0.96073	-3.9;-3.9;-3.9	4.13	2.89	0.33648	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.108661	0.64402	D	0.000009	D	0.94997	0.8381	M	0.82823	2.61	0.80722	D	1	B	0.21821	0.061	B	0.31245	0.126	D	0.94332	0.7563	10	0.66056	D	0.02	.	10.5493	0.45079	0.838:0.162:0.0:0.0	.	117	Q8N465	D2HDH_HUMAN	G	117	ENSP00000442796:R117G;ENSP00000315351:R117G;ENSP00000339536:R117G	ENSP00000315351:R117G	R	+	1	2	D2HGDH	242329177	1.000000	0.71417	0.997000	0.53966	0.439000	0.31926	6.211000	0.72182	1.519000	0.48950	0.459000	0.35465	AGG		0.637	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783	Missense_Mutation	4	33	0	0	0	1	0	4	33				
ARPC1A	10552	broad.mit.edu	37	7	98951628	98951628	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:98951628T>C	ENST00000262942.5	+	6	721	c.597T>C	c.(595-597)ggT>ggC	p.G199G	ARPC1A_ENST00000432884.2_Silent_p.G152G|ARPC1A_ENST00000471960.1_3'UTR	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	199					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			CAGAGTTTGGTGGCAGTGGCA	0.582																																						ENST00000432884.2																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19						c.(454-456)ggT>ggC		actin related protein 2/3 complex, subunit 1A, 41kDa							76.0	79.0	78.0					7																	98951628		2203	4300	6503	SO:0001819	synonymous_variant	10552				actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding	g.chr7:98951628T>C	Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	703	protein-coding gene	gene with protein product	"""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""SOP2-like protein"""	604220	"""actin related protein 2/3 complex, subunit 1A (41 kD)"""			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.597T>C	7.37:g.98951628T>C						ARPC1A_ENST00000471960.1_3'UTR|ARPC1A_ENST00000262942.5_Silent_p.G199G	p.G152G			Q92747	ARC1A_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		8	917	+	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		199					A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Silent	SNP	ENST00000262942.5	37	c.456T>C	CCDS5660.1																																																																																				0.582	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335908.1	NM_006409		6	152	0	0	0	1	0	6	152				
NAA35	60560	broad.mit.edu	37	9	88633297	88633297	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:88633297A>G	ENST00000361671.5	+	20	2034	c.1901A>G	c.(1900-1902)tAc>tGc	p.Y634C		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	634					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						CCAGTGCACTACTTACAGTTC	0.423																																						ENST00000361671.5																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						c.(1900-1902)tAc>tGc		N(alpha)-acetyltransferase 35, NatC auxiliary subunit							73.0	67.0	69.0					9																	88633297		2203	4300	6503	SO:0001583	missense	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88633297A>G	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1901A>G	9.37:g.88633297A>G	ENSP00000354972:p.Tyr634Cys						p.Y634C	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN			20	2034	+			634					Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	c.1901A>G	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.709457	0.48517	.	.	ENSG00000135040	ENST00000361671	.	.	.	5.5	4.33	0.51752	.	0.066508	0.64402	D	0.000007	T	0.78451	0.4285	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.80594	-0.1313	9	0.87932	D	0	-9.9425	12.5371	0.56147	0.8605:0.1395:0.0:0.0	.	634	Q5VZE5	NAA35_HUMAN	C	634	.	ENSP00000354972:Y634C	Y	+	2	0	NAA35	87823117	1.000000	0.71417	0.996000	0.52242	0.133000	0.20885	9.300000	0.96151	0.887000	0.36136	0.482000	0.46254	TAC		0.423	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635		9	28	0	0	0	1	0	9	28				
DUSP4	1846	broad.mit.edu	37	8	29195914	29195914	+	Silent	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:29195914G>C	ENST00000240100.2	-	3	1073	c.684C>G	c.(682-684)gtC>gtG	p.V228V	DUSP4_ENST00000240101.2_Silent_p.V137V	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	228	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein dephosphorylation (GO:0006470)|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)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		AGTCCGAGGAGACATTCAACA	0.557																																						ENST00000240100.2																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(682-684)gtC>gtG		dual specificity phosphatase 4							158.0	121.0	134.0					8																	29195914		2203	4300	6503	SO:0001819	synonymous_variant	1846				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr8:29195914G>C	U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3070	protein-coding gene	gene with protein product	"""VH1 homologous phosphatase 2"", ""MAP kinase phosphatase 2"""	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.684C>G	8.37:g.29195914G>C						DUSP4_ENST00000240101.2_Silent_p.V137V	p.V228V	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)	3	1073	-			228			Tyrosine-protein phosphatase.		B2RBU5|D3DSU4|G5E930|Q13524	Silent	SNP	ENST00000240100.2	37	c.684C>G	CCDS6072.1																																																																																				0.557	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257249.1	NM_001394		4	111	0	0	0	1	0	4	111				
KPNA2	3838	broad.mit.edu	37	17	66039096	66039096	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:66039096C>G	ENST00000537025.2	+	6	1267	c.647C>G	c.(646-648)cCt>cGt	p.P216R	KPNA2_ENST00000330459.3_Missense_Mutation_p.P216R			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	216	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTTGCAGTTCCTGATATGTCA	0.398																																						ENST00000537025.2																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22						c.(646-648)cCt>cGt		karyopherin alpha 2 (RAG cohort 1, importin alpha 1)							231.0	221.0	225.0					17																	66039096		2203	4300	6503	SO:0001583	missense	3838				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity	g.chr17:66039096C>G	U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.647C>G	17.37:g.66039096C>G	ENSP00000438483:p.Pro216Arg					KPNA2_ENST00000330459.3_Missense_Mutation_p.P216R	p.P216R			P52292	IMA2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	1267	+	all_cancers(12;1.18e-09)		216			NLS binding site (major) (By similarity).		B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	ENST00000537025.2	37	c.647C>G	CCDS32713.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710094	0.30322	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.32988	1.43;1.43	5.07	5.07	0.68467	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.40886	0.1135	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.11941	-1.0567	10	0.15066	T	0.55	.	18.8283	0.92127	0.0:1.0:0.0:0.0	.	216	P52292	IMA2_HUMAN	R	216	ENSP00000332455:P216R;ENSP00000438483:P216R	ENSP00000332455:P216R	P	+	2	0	KPNA2	63469558	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	7.366000	0.79548	2.502000	0.84385	0.557000	0.71058	CCT		0.398	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448111.1	NM_002266		86	249	0	0	0	1	0	86	249				
PHACTR2	9749	broad.mit.edu	37	6	144093396	144093396	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:144093396T>C	ENST00000427704.2	+	7	1331	c.1201T>C	c.(1201-1203)Ttc>Ctc	p.F401L	PHACTR2_ENST00000367582.3_Splice_Site_p.F332L|PHACTR2_ENST00000305766.6_Splice_Site_p.F321L|PHACTR2_ENST00000367584.4_Splice_Site_p.F389L|PHACTR2_ENST00000440869.2_Splice_Site_p.F412L	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	401							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTTTAACAGTTTCACAACCAA	0.493																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.e7-1		phosphatase and actin regulator 2							56.0	62.0	60.0					6																	144093396		2082	4226	6308	SO:0001630	splice_region_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144093396T>C	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1200-1T>C	6.37:g.144093396T>C						PHACTR2_ENST00000440869.2_Splice_Site_p.F412_splice|PHACTR2_ENST00000305766.6_Splice_Site_p.F321_splice|PHACTR2_ENST00000367584.4_Splice_Site_p.F389_splice|PHACTR2_ENST00000367582.3_Splice_Site_p.F332_splice	p.F401_splice	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	7	1331	+			401					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Splice_Site	SNP	ENST00000427704.2	37	c.1199_splice	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	T	7.456	0.643751	0.14451	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	T;T;T;T;T	0.27402	1.67;2.12;1.69;2.12;1.69	5.0	1.12	0.20585	.	0.930972	0.09266	N	0.825850	T	0.05547	0.0146	N	0.11201	0.11	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.35822	-0.9773	10	0.25751	T	0.34	.	6.8039	0.23766	0.0:0.0749:0.2881:0.6369	.	412;321;332;401	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	L	389;401;321;412;332	ENSP00000356556:F389L;ENSP00000391763:F401L;ENSP00000305530:F321L;ENSP00000417038:F412L;ENSP00000356554:F332L	ENSP00000305530:F321L	F	+	1	0	PHACTR2	144135089	0.762000	0.28451	0.845000	0.33349	0.892000	0.51952	0.210000	0.17455	-0.038000	0.13624	0.379000	0.24179	TTC		0.493	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721	Missense_Mutation	10	75	0	0	0	1	0	10	75				
WDR54	84058	broad.mit.edu	37	2	74650994	74650994	+	Missense_Mutation	SNP	G	G	C	rs377124392		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:74650994G>C	ENST00000348227.4	+	6	507	c.419G>C	c.(418-420)gGc>gCc	p.G140A	WDR54_ENST00000461531.1_3'UTR|WDR54_ENST00000409791.1_Missense_Mutation_p.G88A	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	140										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						ACGTGGTCAGGCCGGGTGCTG	0.552																																						ENST00000348227.4																			0				breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						c.(418-420)gGc>gCc		WD repeat domain 54							134.0	136.0	136.0					2																	74650994		2203	4300	6503	SO:0001583	missense	84058							g.chr2:74650994G>C	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.419G>C	2.37:g.74650994G>C	ENSP00000006526:p.Gly140Ala					WDR54_ENST00000409791.1_Missense_Mutation_p.G88A|WDR54_ENST00000461531.1_3'UTR	p.G140A	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN			6	507	+			140					D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	c.419G>C	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181215	0.78677	.	.	ENSG00000005448	ENST00000409791;ENST00000426787;ENST00000348227	T;T	0.60672	0.17;0.17	5.13	5.13	0.70059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72252	0.3437	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72940	-0.4139	10	0.49607	T	0.09	-19.596	15.5043	0.75725	0.0:0.0:1.0:0.0	.	140	Q9H977	WDR54_HUMAN	A	88;122;140	ENSP00000387236:G88A;ENSP00000006526:G140A	ENSP00000006526:G140A	G	+	2	0	WDR54	74504502	1.000000	0.71417	0.835000	0.33067	0.990000	0.78478	7.885000	0.87282	2.377000	0.81083	0.650000	0.86243	GGC		0.552	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		42	129	0	0	0	1	0	42	129				
EPRS	2058	broad.mit.edu	37	1	220170409	220170409	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:220170409A>G	ENST00000366923.3	-	18	2726	c.2457T>C	c.(2455-2457)agT>agC	p.S819S		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	819	3 X 57 AA approximate repeats.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TTTCCAGAATACTTGCTGAGG	0.398																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(2455-2457)agT>agC		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						105.0	107.0	106.0					1																	220170409		2203	4300	6503	SO:0001819	synonymous_variant	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220170409A>G	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.2457T>C	1.37:g.220170409A>G							p.S819S	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	18	2726	-			819			3 X 57 AA approximate repeats.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Silent	SNP	ENST00000366923.3	37	c.2457T>C	CCDS31027.1																																																																																				0.398	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		5	116	0	0	0	1	0	5	116				
TRIM34	53840	broad.mit.edu	37	11	5653605	5653605	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:5653605G>A	ENST00000514226.1	+	2	381	c.44G>A	c.(43-45)tGt>tAt	p.C15Y	TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.C15Y|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Missense_Mutation_p.C15Y|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.C369Y	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34	15					positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGTGACCTGTCCCATCTGC	0.537											OREG0003725	type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000354852.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33						c.(1105-1107)tGt>tAt									149.0	130.0	137.0					11																	5653605		2201	4297	6498	SO:0001583	missense	445372					intracellular	zinc ion binding	g.chr11:5653605G>A	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.44G>A	11.37:g.5653605G>A	ENSP00000422947:p.Cys15Tyr		OREG0003725	type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	628	TRIM34_ENST00000429814.2_Missense_Mutation_p.C15Y|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.C15Y|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000514226.1_Missense_Mutation_p.C15Y	p.C369Y	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	8	1279	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	369					D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	c.1106G>A	CCDS31391.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011564	0.35511	.	.	ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258659;ENSG00000258588	ENST00000337072;ENST00000514226;ENST00000429814;ENST00000457787;ENST00000354852	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	3.07	3.07	0.35406	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.36972	N	0.002317	T	0.81950	0.4931	H	0.98721	4.31	0.40707	D	0.982535	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.88536	0.3106	10	0.87932	D	0	.	12.3957	0.55382	0.0:0.0:1.0:0.0	.	15;15;369	Q9BYJ4-2;Q9BYJ4;B2RNG4	.;TRI34_HUMAN;.	Y	369;15;15;15;369	ENSP00000422947:C15Y;ENSP00000402595:C15Y;ENSP00000395982:C15Y;ENSP00000346916:C369Y	ENSP00000402595:C15Y	C	+	2	0	TRIM34;TRIM6-TRIM34	5610181	1.000000	0.71417	0.141000	0.22245	0.040000	0.13550	8.496000	0.90485	2.031000	0.59945	0.555000	0.69702	TGT		0.537	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		34	117	0	0	0	1	0	34	117				
KCTD8	386617	broad.mit.edu	37	4	44177057	44177057	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:44177057C>T	ENST00000360029.3	-	2	1455	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	391					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.R391H(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTTAGAGGGGCGATCCAATGT	0.507										HNSCC(17;0.042)																												ENST00000360029.3																			1	Substitution - Missense(1)	p.R391H(1)	large_intestine(1)	central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(1171-1173)cGc>cAc		potassium channel tetramerization domain containing 8							165.0	165.0	165.0					4																	44177057		2203	4300	6503	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44177057C>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1172G>A	4.37:g.44177057C>T	ENSP00000353129:p.Arg391His	HNSCC(17;0.042)					p.R391H	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			2	1455	-			391					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.1172G>A	CCDS3467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.67|15.67	2.901921|2.901921	0.52227|0.52227	.|.	.|.	ENSG00000183783|ENSG00000183783	ENST00000515268|ENST00000360029	.|T	.|0.43294	.|0.95	4.56|4.56	4.56|4.56	0.56223|0.56223	.|.	.|0.000000	.|0.46758	.|D	.|0.000275	T|T	0.52597|0.52597	0.1744|0.1744	L|L	0.36672|0.36672	1.1|1.1	0.43271|0.43271	D|D	0.995228|0.995228	.|D	.|0.76494	.|0.999	.|P	.|0.62560	.|0.904	T|T	0.56860|0.56860	-0.7909|-0.7909	5|10	.|0.87932	.|D	.|0	.|.	16.846|16.846	0.85981|0.85981	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|391	.|Q6ZWB6	.|KCTD8_HUMAN	T|H	127|391	.|ENSP00000353129:R391H	.|ENSP00000353129:R391H	A|R	-|-	1|2	0|0	KCTD8|KCTD8	43871814|43871814	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.187000|0.187000	0.23431|0.23431	7.189000|7.189000	0.77747|0.77747	2.516000|2.516000	0.84829|0.84829	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.507	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			54	158	0	0	0	1	0	54	158				
REV1	51455	broad.mit.edu	37	2	100027230	100027230	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:100027230T>C	ENST00000258428.3	-	14	2500	c.2272A>G	c.(2272-2274)Atg>Gtg	p.M758V	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.M757V	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	758					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTCGTACCATGATTTTGAGA	0.428								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2272-2274)Atg>Gtg	Direct reversal of damage	REV1, polymerase (DNA directed)							129.0	119.0	123.0					2																	100027230		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100027230T>C	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2272A>G	2.37:g.100027230T>C	ENSP00000258428:p.Met758Val					REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.M757V	p.M758V	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			14	2500	-			758					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.2272A>G	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.938843	0.52972	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.35421	1.31;1.31	5.18	4.0	0.46444	DNA polymerase, Y-family, little finger domain (2);	0.034626	0.85682	D	0.000000	T	0.49949	0.1587	M	0.89095	3.005	0.80722	D	1	B;B	0.30361	0.09;0.277	B;B	0.37601	0.13;0.254	T	0.54470	-0.8289	10	0.59425	D	0.04	.	12.411	0.55468	0.0:0.0:0.1409:0.8591	.	758;757	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	V	757;758	ENSP00000377091:M757V;ENSP00000258428:M758V	ENSP00000258428:M758V	M	-	1	0	REV1	99393662	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.844000	0.69430	0.890000	0.36211	0.528000	0.53228	ATG		0.428	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		5	118	0	0	0	1	0	5	118				
PIK3CG	5294	broad.mit.edu	37	7	106508498	106508498	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:106508498C>T	ENST00000359195.3	+	2	802	c.492C>T	c.(490-492)gaC>gaT	p.D164D	PIK3CG_ENST00000496166.1_Silent_p.D164D|PIK3CG_ENST00000440650.2_Silent_p.D164D	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	164					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACGTCACTGACGTCAGCAACG	0.682																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(490-492)gaC>gaT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							25.0	29.0	28.0					7																	106508498		2203	4298	6501	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508498C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.492C>T	7.37:g.106508498C>T						PIK3CG_ENST00000496166.1_Silent_p.D164D|PIK3CG_ENST00000440650.2_Silent_p.D164D	p.D164D	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	802	+			164					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.492C>T	CCDS5739.1																																																																																				0.682	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			5	37	0	0	0	1	0	5	37				
PRC1	9055	broad.mit.edu	37	15	91512855	91512855	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:91512855T>C	ENST00000361188.5	-	13	2784		c.e13-2		PRC1_ENST00000442656.2_Splice_Site|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000361919.3_Splice_Site|PRC1_ENST00000394249.3_Splice_Site|PRC1-AS1_ENST00000554388.1_RNA					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					AGCGACTGGCTGCAGAGAAAG	0.502																																						ENST00000361188.5																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.e13-2		protein regulator of cytokinesis 1							103.0	79.0	87.0					15																	91512855		2198	4298	6496	SO:0001630	splice_region_variant	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91512855T>C	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1573-2A>G	15.37:g.91512855T>C						PRC1_ENST00000361919.3_Splice_Site|PRC1-AS1_ENST00000556200.1_RNA|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Splice_Site|PRC1_ENST00000394249.3_Splice_Site				O43663	PRC1_HUMAN			13	2784	-	Lung NSC(78;0.0987)|all_lung(78;0.175)								Splice_Site	SNP	ENST00000361188.5	37		CCDS45352.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.963800	0.34659	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000555455;ENST00000442656	.	.	.	5.91	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.593	0.45321	0.0:0.1174:0.0:0.8826	.	.	.	.	.	-1	.	.	.	-	.	.	PRC1	89313859	0.903000	0.30736	0.993000	0.49108	0.516000	0.34256	1.942000	0.40243	2.262000	0.75019	0.528000	0.53228	.		0.502	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981	Intron	6	88	0	0	0	1	0	6	88				
TCTN2	79867	broad.mit.edu	37	12	124191394	124191394	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124191394A>G	ENST00000303372.5	+	16	2019	c.1891A>G	c.(1891-1893)Aca>Gca	p.T631A	RP11-338K17.8_ENST00000538837.1_lincRNA|TCTN2_ENST00000426174.2_Missense_Mutation_p.T630A	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	631					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CCACCCCCTGACAAGGTACTC	0.428																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1891-1893)Aca>Gca		tectonic family member 2							93.0	88.0	89.0					12																	124191394		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124191394A>G	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.1891A>G	12.37:g.124191394A>G	ENSP00000304941:p.Thr631Ala					TCTN2_ENST00000426174.2_Missense_Mutation_p.T630A	p.T631A	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	16	2019	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		631					A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.1891A>G	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.281545	0.40394	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.83755	-1.76;-1.75	5.21	2.63	0.31362	.	0.129376	0.52532	D	0.000077	T	0.78104	0.4231	M	0.69823	2.125	0.32786	N	0.501869	B;B	0.34329	0.449;0.449	B;B	0.31390	0.129;0.129	T	0.78229	-0.2285	10	0.30854	T	0.27	-17.8222	9.5101	0.39071	0.7216:0.0:0.0:0.2784	.	630;631	A8K7Y8;Q96GX1	.;TECT2_HUMAN	A	630;631	ENSP00000395171:T630A;ENSP00000304941:T631A	ENSP00000304941:T631A	T	+	1	0	TCTN2	122757347	0.812000	0.29077	0.068000	0.19968	0.083000	0.17756	2.377000	0.44300	0.892000	0.36259	0.477000	0.44152	ACA		0.428	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		14	81	0	0	0	1	0	14	81				
RTN4IP1	84816	broad.mit.edu	37	6	107040176	107040176	+	Splice_Site	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:107040176C>A	ENST00000369063.3	-	6	1135		c.e6-1		RTN4IP1_ENST00000539449.1_Intron	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1							mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		CTTTCATTACCTGCCCCCCAC	0.383																																						ENST00000369063.3																			0				breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13						c.e6-1		reticulon 4 interacting protein 1							68.0	61.0	64.0					6																	107040176		2203	4300	6503	SO:0001630	splice_region_variant	84816					mitochondrion	oxidoreductase activity|zinc ion binding	g.chr6:107040176C>A	AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.670-1G>T	6.37:g.107040176C>A						RTN4IP1_ENST00000539449.1_Intron		NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)	6	1135	-	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)						Q8N9B3|Q8WZ66|Q9BRA4	Splice_Site	SNP	ENST00000369063.3	37		CCDS5056.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251462	0.80135	.	.	ENSG00000130347	ENST00000369063	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5778	0.87956	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RTN4IP1	107146869	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.179000	0.77665	2.825000	0.97269	0.655000	0.94253	.		0.383	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1		Intron	14	36	1	0	1.49906e-05	1	1.53131e-05	14	36				
GPR98	84059	broad.mit.edu	37	5	89990217	89990217	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:89990217G>A	ENST00000405460.2	+	33	7740	c.7644G>A	c.(7642-7644)atG>atA	p.M2548I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2548					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCACCTCATGAACATTTCAG	0.393																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(7642-7644)atG>atA		G protein-coupled receptor 98							148.0	139.0	142.0					5																	89990217		1859	4108	5967	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89990217G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7644G>A	5.37:g.89990217G>A	ENSP00000384582:p.Met2548Ile						p.M2548I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	33	7740	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2548					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.7644G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	6.983	0.551408	0.13374	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.34072	1.38	5.88	4.99	0.66335	.	0.286933	0.47852	D	0.000218	T	0.30417	0.0764	L	0.41236	1.265	0.80722	D	1	B;B	0.22003	0.063;0.063	B;B	0.24006	0.05;0.05	T	0.08806	-1.0704	10	0.51188	T	0.08	.	10.2943	0.43613	0.0699:0.1365:0.7936:0.0	.	2548;2548	E7ETI5;Q8WXG9	.;GPR98_HUMAN	I	2548	ENSP00000384582:M2548I	ENSP00000296619:M2548I	M	+	3	0	GPR98	90025973	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	0.948000	0.29096	1.447000	0.47661	0.655000	0.94253	ATG		0.393	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		42	124	0	0	0	1	0	42	124				
SYNE1	23345	broad.mit.edu	37	6	152674485	152674485	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:152674485G>A	ENST00000367255.5	-	69	11767	c.11166C>T	c.(11164-11166)ggC>ggT	p.G3722G	SYNE1_ENST00000265368.4_Silent_p.G3722G|SYNE1_ENST00000341594.5_Silent_p.G3693G|SYNE1_ENST00000448038.1_Silent_p.G3707G|SYNE1_ENST00000423061.1_Silent_p.G3707G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3722					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATGAGTAGAGCCATACCAAT	0.393										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(11164-11166)ggC>ggT		spectrin repeat containing, nuclear envelope 1							156.0	153.0	154.0					6																	152674485		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152674485G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11166C>T	6.37:g.152674485G>A		HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Silent_p.G3707G|SYNE1_ENST00000448038.1_Silent_p.G3707G|SYNE1_ENST00000265368.4_Silent_p.G3722G|SYNE1_ENST00000341594.5_Silent_p.G3693G	p.G3722G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	69	11767	-		Ovarian(120;0.0955)	3722					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.11166C>T	CCDS5236.2																																																																																				0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		42	132	0	0	0	1	0	42	132				
ACTRT3	84517	broad.mit.edu	37	3	169482478	169482478	+	IGR	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:169482478T>C	ENST00000330368.2	-	0	2005				TERC_ENST00000602385.1_lincRNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											CCGTTCCTCTTCCTGCGGCCT	0.672																																						ENST00000602385.1																			0																				17.0	17.0	17.0					3																	169482478		874	1990	2864	SO:0001628	intergenic_variant	7012	Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis						g.chr3:169482478T>C	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9			3.37:g.169482478T>C								NR_001566.1						0	370	-								Q96IS0|Q96NJ0	RNA	SNP	ENST00000330368.2	37		CCDS3206.1																																																																																				0.672	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487		6	31	0	0	0	1	0	6	31				
TRIM16L	147166	broad.mit.edu	37	17	18638255	18638255	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:18638255C>T	ENST00000449552.2	+	7	2013	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	TRIM16L_ENST00000395671.4_Missense_Mutation_p.R177C|TRIM16L_ENST00000395672.2_Missense_Mutation_p.R177C|TRIM16L_ENST00000571708.1_Missense_Mutation_p.R177C|TRIM16L_ENST00000572555.1_Missense_Mutation_p.R177C|TRIM16L_ENST00000414850.2_Silent_p.T89T|TRIM16L_ENST00000395902.3_Missense_Mutation_p.R231C			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	177	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						GGAGGAGAACCGCAAGGTCAC	0.607																																						ENST00000449552.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						c.(529-531)Cgc>Tgc		tripartite motif containing 16-like							47.0	42.0	44.0					17																	18638255		2203	4298	6501	SO:0001583	missense	147166					cytoplasm		g.chr17:18638255C>T	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.529C>T	17.37:g.18638255C>T	ENSP00000461386:p.Arg177Cys					TRIM16L_ENST00000395671.4_Missense_Mutation_p.R177C|TRIM16L_ENST00000395672.2_Missense_Mutation_p.R177C|TRIM16L_ENST00000414850.2_Silent_p.T89T|TRIM16L_ENST00000395902.3_Missense_Mutation_p.R231C|TRIM16L_ENST00000572555.1_Missense_Mutation_p.R177C|TRIM16L_ENST00000571708.1_Missense_Mutation_p.R177C	p.R177C			Q309B1	TR16L_HUMAN			7	2013	+			177			B30.2/SPRY.		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	ENST00000449552.2	37	c.529C>T	CCDS32588.1	.	.	.	.	.	.	.	.	.	.	c	4.575	0.106727	0.08780	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000395671	T;T;T	0.13901	2.55;2.55;2.55	3.54	2.55	0.30701	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	0.370611	0.22137	U	0.064105	T	0.39911	0.1096	M	0.89904	3.07	0.37442	D	0.914467	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.991;0.992;0.991	T	0.48790	-0.9004	10	0.87932	D	0	-16.7341	8.6334	0.33933	0.0:0.8807:0.0:0.1193	.	231;393;177	B4DE22;B3KMJ2;Q309B1	.;.;TR16L_HUMAN	C	231;177;177	ENSP00000379239:R231C;ENSP00000379031:R177C;ENSP00000379030:R177C	ENSP00000379030:R177C	R	+	1	0	TRIM16L	18578980	1.000000	0.71417	0.992000	0.48379	0.266000	0.26442	3.018000	0.49625	0.691000	0.31592	0.194000	0.17425	CGC		0.607	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330		11	80	0	0	0	1	0	11	80				
SRRM3	222183	broad.mit.edu	37	7	75889305	75889305	+	Silent	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:75889305G>T	ENST00000326382.8	+	4	624	c.417G>T	c.(415-417)gtG>gtT	p.V139V	SRRM3_ENST00000388802.4_Silent_p.V139V	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3	139										NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						ACGGCCCAGTGGACTGTGACT	0.771																																						ENST00000388802.4																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						c.(415-417)gtG>gtT		serine/arginine repetitive matrix 3							13.0	17.0	16.0					7																	75889305		1555	3576	5131	SO:0001819	synonymous_variant	222183							g.chr7:75889305G>T	AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.417G>T	7.37:g.75889305G>T						SRRM3_ENST00000326382.8_Silent_p.V139V	p.V139V							4	626	+								A6ND75	Silent	SNP	ENST00000326382.8	37	c.417G>T																																																																																					0.771	SRRM3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000252889.2	NM_001110199		7	9	1	0	0.000157383	1	0.00015972	7	9				
SLC10A5	347051	broad.mit.edu	37	8	82606590	82606590	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:82606590A>G	ENST00000518568.1	-	1	1819	c.618T>C	c.(616-618)gcT>gcC	p.A206A		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	206						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAACTCCAAAAGCTTGCGCCT	0.478																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(616-618)gcT>gcC		solute carrier family 10, member 5							90.0	97.0	94.0					8																	82606590		2203	4300	6503	SO:0001819	synonymous_variant	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606590A>G		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.618T>C	8.37:g.82606590A>G							p.A206A	NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN			1	1819	-			206					B2RN26	Silent	SNP	ENST00000518568.1	37	c.618T>C	CCDS34915.1																																																																																				0.478	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		59	220	0	0	0	1	0	59	220				
PLA1A	51365	broad.mit.edu	37	3	119325767	119325767	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:119325767C>A	ENST00000273371.4	+	2	292	c.220C>A	c.(220-222)Caa>Aaa	p.Q74K	PLA1A_ENST00000495992.1_Missense_Mutation_p.Q74K|PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000494440.1_Missense_Mutation_p.Q58K	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	74					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGTGACCTCCAAAACTCTGG	0.458																																						ENST00000273371.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(220-222)Caa>Aaa		phospholipase A1 member A							149.0	156.0	153.0					3																	119325767		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119325767C>A	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.220C>A	3.37:g.119325767C>A	ENSP00000273371:p.Gln74Lys					PLA1A_ENST00000494440.1_Missense_Mutation_p.Q58K|PLA1A_ENST00000495992.1_Missense_Mutation_p.Q74K|PLA1A_ENST00000488919.1_Intron	p.Q74K	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN			2	292	+			74					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.220C>A	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	C	1.706	-0.500362	0.04291	.	.	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.91011	-2.59;-2.77;-2.59	4.67	3.79	0.43588	Lipase, N-terminal (1);	0.745176	0.14035	N	0.345812	T	0.79724	0.4495	N	0.12611	0.24	0.24242	N	0.995352	B;B	0.18461	0.023;0.028	B;B	0.15052	0.007;0.012	T	0.59484	-0.7446	10	0.07175	T	0.84	-1.3146	12.5859	0.56416	0.0:0.8329:0.1671:0.0	.	74;74	Q53H76-3;Q53H76	.;PLA1A_HUMAN	K	74;74;58	ENSP00000273371:Q74K;ENSP00000417326:Q74K;ENSP00000418793:Q58K	ENSP00000273371:Q74K	Q	+	1	0	PLA1A	120808457	0.822000	0.29219	0.915000	0.36163	0.651000	0.38670	0.928000	0.28831	1.316000	0.45131	0.655000	0.94253	CAA		0.458	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			65	187	1	0	3.07184e-27	1	3.25436e-27	65	187				
CLPB	81570	broad.mit.edu	37	11	72114048	72114048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:72114048C>T	ENST00000294053.3	-	3	677	c.504G>A	c.(502-504)tgG>tgA	p.W168*	CLPB_ENST00000538039.1_Nonsense_Mutation_p.W168*|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000445069.2_Nonsense_Mutation_p.W64*|CLPB_ENST00000437826.2_Nonsense_Mutation_p.W123*|CLPB_ENST00000340729.5_Intron	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	168					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGAGTGCTGTCCAGCCAAGTC	0.498																																						ENST00000294053.3																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						c.(502-504)tgG>tgA		ClpB caseinolytic peptidase B homolog (E. coli)							180.0	137.0	151.0					11																	72114048		2200	4293	6493	SO:0001587	stop_gained	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72114048C>T	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.504G>A	11.37:g.72114048C>T	ENSP00000294053:p.Trp168*					CLPB_ENST00000340729.5_Intron|CLPB_ENST00000445069.2_Nonsense_Mutation_p.W64*|CLPB_ENST00000437826.2_Nonsense_Mutation_p.W123*|CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000538039.1_Nonsense_Mutation_p.W168*	p.W168*	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN			3	677	-			168					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Nonsense_Mutation	SNP	ENST00000294053.3	37	c.504G>A	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	C	36	5.911689	0.97093	.	.	ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000437826;ENST00000544683;ENST00000539148	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8011	16.6749	0.85276	0.0:1.0:0.0:0.0	.	.	.	.	X	168;168;173;123;22;22	.	ENSP00000294053:W168X	W	-	3	0	CLPB	71791696	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.259000	0.65485	2.720000	0.93068	0.555000	0.69702	TGG		0.498	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		17	55	0	0	0	1	0	17	55				
NEUROD4	58158	broad.mit.edu	37	12	55421134	55421134	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:55421134G>A	ENST00000242994.3	+	2	1289	c.911G>A	c.(910-912)cGt>cAt	p.R304H		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	304					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R304H(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GGTACCCCCCGTTATGATGTT	0.458																																						ENST00000242994.3																			1	Substitution - Missense(1)	p.R304H(1)	lung(1)	breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(910-912)cGt>cAt		neuronal differentiation 4							419.0	414.0	416.0					12																	55421134		2203	4300	6503	SO:0001583	missense	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55421134G>A	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.911G>A	12.37:g.55421134G>A	ENSP00000242994:p.Arg304His						p.R304H	NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN			2	1289	+			304					B2RAC9	Missense_Mutation	SNP	ENST00000242994.3	37	c.911G>A	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864681	0.51482	.	.	ENSG00000123307	ENST00000242994	D	0.97016	-4.21	5.85	3.97	0.46021	.	0.052507	0.85682	N	0.000000	D	0.94673	0.8282	M	0.75615	2.305	0.58432	D	0.999995	B	0.16802	0.019	B	0.09377	0.004	D	0.91728	0.5394	10	0.72032	D	0.01	-13.3135	9.2249	0.37400	0.186:0.0:0.814:0.0	.	304	Q9HD90	NDF4_HUMAN	H	304	ENSP00000242994:R304H	ENSP00000242994:R304H	R	+	2	0	NEUROD4	53707401	1.000000	0.71417	0.884000	0.34674	0.979000	0.70002	4.869000	0.63028	0.868000	0.35678	0.655000	0.94253	CGT		0.458	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			272	608	0	0	0	1	0	272	608				
PARL	55486	broad.mit.edu	37	3	183585695	183585695	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:183585695A>G	ENST00000317096.4	-	2	339	c.279T>C	c.(277-279)taT>taC	p.Y93Y	PARL_ENST00000311101.5_Silent_p.Y93Y|PARL_ENST00000435888.1_Silent_p.Y93Y	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	93					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCCTTATAGGATAGGGAGAAG	0.413																																						ENST00000317096.4																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(277-279)taT>taC		presenilin associated, rhomboid-like							108.0	107.0	107.0					3																	183585695		2203	4300	6503	SO:0001819	synonymous_variant	55486				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	g.chr3:183585695A>G	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"""rhomboid 7 homolog 1 (Drosophila)"""	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.279T>C	3.37:g.183585695A>G						PARL_ENST00000435888.1_Silent_p.Y93Y|PARL_ENST00000311101.5_Silent_p.Y93Y	p.Y93Y	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		2	339	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		93					Q96CQ4|Q9BTJ6|Q9P1E3	Silent	SNP	ENST00000317096.4	37	c.279T>C	CCDS3248.1	.	.	.	.	.	.	.	.	.	.	A	6.652	0.488881	0.12641	.	.	ENSG00000175193	ENST00000449306	.	.	.	5.39	1.62	0.23740	.	.	.	.	.	T	0.55497	0.1924	.	.	.	0.51012	D	0.999904	.	.	.	.	.	.	T	0.44952	-0.9294	4	.	.	.	-6.4768	8.1185	0.30957	0.7698:0.0:0.2302:0.0	.	.	.	.	P	54	.	.	S	-	1	0	PARL	185068389	0.994000	0.37717	0.989000	0.46669	0.772000	0.43724	0.352000	0.20113	0.094000	0.17404	0.533000	0.62120	TCC		0.413	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		14	119	0	0	0	1	0	14	119				
PIGG	54872	broad.mit.edu	37	4	494216	494216	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:494216A>G	ENST00000453061.2	+	2	292	c.186A>G	c.(184-186)ccA>ccG	p.P62P	ZNF721_ENST00000511833.2_5'Flank|PIGG_ENST00000502311.1_3'UTR|ZNF721_ENST00000338977.5_5'Flank|PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000504346.1_5'UTR|PIGG_ENST00000310340.5_Silent_p.P62P|PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000383028.4_Silent_p.P62P	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	62					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CGCTGCCACCACCTCTCTTCA	0.398																																						ENST00000453061.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						c.(184-186)ccA>ccG		phosphatidylinositol glycan anchor biosynthesis, class G							110.0	100.0	104.0					4																	494216		2203	4300	6503	SO:0001819	synonymous_variant	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:494216A>G		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.186A>G	4.37:g.494216A>G						PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000310340.5_Silent_p.P62P|PIGG_ENST00000509768.1_5'UTR|PIGG_ENST00000383028.4_Silent_p.P62P|PIGG_ENST00000504346.1_5'UTR|PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000503111.1_5'UTR	p.P62P	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN			2	292	+			62					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Silent	SNP	ENST00000453061.2	37	c.186A>G	CCDS46992.1																																																																																				0.398	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		9	45	0	0	0	1	0	9	45				
BMP10	27302	broad.mit.edu	37	2	69092780	69092780	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:69092780C>T	ENST00000295379.1	-	2	1416	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	420					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CAGCCACATTCGGAGACGGCC	0.408																																						ENST00000295379.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						c.(1258-1260)Gaa>Aaa		bone morphogenetic protein 10							101.0	103.0	103.0					2																	69092780		2203	4300	6503	SO:0001583	missense	27302				activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding	g.chr2:69092780C>T	AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.1258G>A	2.37:g.69092780C>T	ENSP00000295379:p.Glu420Lys						p.E420K	NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN			2	1416	-			420					Q53R17|Q6NTE0	Missense_Mutation	SNP	ENST00000295379.1	37	c.1258G>A	CCDS1890.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739535	0.89573	.	.	ENSG00000163217	ENST00000295379	D	0.89050	-2.46	6.17	6.17	0.99709	Transforming growth factor-beta, C-terminal (3);	0.044140	0.85682	D	0.000000	D	0.91050	0.7184	L	0.41906	1.305	0.80722	D	1	D	0.63046	0.992	P	0.58172	0.834	D	0.89563	0.3808	10	0.41790	T	0.15	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	420	O95393	BMP10_HUMAN	K	420	ENSP00000295379:E420K	ENSP00000295379:E420K	E	-	1	0	BMP10	68946284	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	6.052000	0.71080	2.941000	0.99782	0.655000	0.94253	GAA		0.408	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482		50	139	0	0	0	1	0	50	139				
DNAJB13	374407	broad.mit.edu	37	11	73679470	73679470	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:73679470C>G	ENST00000339764.1	+	6	1438	c.687C>G	c.(685-687)aaC>aaG	p.N229K	RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000543947.1_Missense_Mutation_p.N54K|DNAJB13_ENST00000537753.1_Missense_Mutation_p.N54K	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	229					protein folding (GO:0006457)			p.L230fs*5(1)		large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					AGAATGACAACCTCTTCTTCG	0.582																																						ENST00000339764.1																			1	Insertion - Frameshift(1)	p.L230fs*5(1)	large_intestine(1)	large_intestine(3)|lung(2)	5						c.(685-687)aaC>aaG		DnaJ (Hsp40) homolog, subfamily B, member 13							163.0	120.0	135.0					11																	73679470		2200	4293	6493	SO:0001583	missense	374407				apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding	g.chr11:73679470C>G	AF516185	CCDS8227.1	11q13.3	2011-09-02	2010-04-21		ENSG00000187726	ENSG00000187726		"""Heat shock proteins / DNAJ (HSP40)"""	30718	protein-coding gene	gene with protein product	"""radial spoke 16 homolog A (Chlamydomonas)"""	610263	"""DnaJ (Hsp40) related, subfamily B, member 13"""				Standard	NM_153614		Approved	TSARG6, RSPH16A	uc001ouo.3	P59910	OTTHUMG00000168093	ENST00000339764.1:c.687C>G	11.37:g.73679470C>G	ENSP00000344431:p.Asn229Lys					DNAJB13_ENST00000537753.1_Missense_Mutation_p.N54K|DNAJB13_ENST00000543947.1_Missense_Mutation_p.N54K|RP11-167N4.2_ENST00000537019.1_RNA	p.N229K	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN			6	1438	+	Breast(11;7.42e-05)		229					B3LEP4|Q8IZW5	Missense_Mutation	SNP	ENST00000339764.1	37	c.687C>G	CCDS8227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.88|17.88	3.497215|3.497215	0.64186|0.64186	.|.	.|.	ENSG00000187726|ENSG00000187726	ENST00000339764;ENST00000537753;ENST00000543947|ENST00000542350	T;T;T|.	0.49720|.	0.92;0.77;0.77|.	5.23|5.23	4.21|4.21	0.49690|0.49690	HSP40/DnaJ peptide-binding (1);|.	0.086464|.	0.85682|.	D|.	0.000000|.	T|T	0.71492|0.71492	0.3346|0.3346	M|M	0.86502|0.86502	2.82|2.82	0.35208|0.35208	D|D	0.774877|0.774877	B|.	0.29671|.	0.254|.	B|.	0.37943|.	0.261|.	T|T	0.79386|0.79386	-0.1825|-0.1825	10|5	0.87932|.	D|.	0|.	.|.	8.9228|8.9228	0.35621|0.35621	0.0:0.8136:0.0:0.1864|0.0:0.8136:0.0:0.1864	.|.	229|.	P59910|.	DJB13_HUMAN|.	K|A	229;54;54|130	ENSP00000344431:N229K;ENSP00000439711:N54K;ENSP00000438576:N54K|.	ENSP00000344431:N229K|.	N|P	+|+	3|1	2|0	DNAJB13|DNAJB13	73357118|73357118	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	1.094000|1.094000	0.30951|0.30951	1.050000|1.050000	0.40346|0.40346	0.437000|0.437000	0.28790|0.28790	AAC|CCT		0.582	DNAJB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398100.1	NM_153614		11	44	0	0	0	1	0	11	44				
GRAMD1B	57476	broad.mit.edu	37	11	123484353	123484353	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:123484353C>T	ENST00000529750.1	+	15	2112	c.1785C>T	c.(1783-1785)atC>atT	p.I595I	GRAMD1B_ENST00000450171.2_Silent_p.I286I|GRAMD1B_ENST00000322282.7_Silent_p.I595I|GRAMD1B_ENST00000456860.2_Silent_p.I602I	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	595						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GCCACAGGATCAAACATGTGG	0.612																																						ENST00000529750.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(1783-1785)atC>atT		GRAM domain containing 1B							42.0	46.0	45.0					11																	123484353		2177	4274	6451	SO:0001819	synonymous_variant	57476					integral to membrane		g.chr11:123484353C>T	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1785C>T	11.37:g.123484353C>T						GRAMD1B_ENST00000456860.2_Silent_p.I602I|GRAMD1B_ENST00000322282.7_Silent_p.I595I|GRAMD1B_ENST00000450171.2_Silent_p.I286I	p.I595I	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	15	2112	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	595					Q6UW85|Q9ULL9	Silent	SNP	ENST00000529750.1	37	c.1785C>T	CCDS53720.1																																																																																				0.612	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		4	39	0	0	0	1	0	4	39				
TRIO	7204	broad.mit.edu	37	5	14508455	14508455	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:14508455G>A	ENST00000344204.4	+	57	9242	c.9218G>A	c.(9217-9219)cGc>cAc	p.R3073H	TRIO_ENST00000344135.5_Missense_Mutation_p.R572H|TRIO_ENST00000537187.1_Missense_Mutation_p.R2897H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	3073					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R3073H(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATTGAGCGGCGCAAACACCAG	0.547																																						ENST00000344204.4																			1	Substitution - Missense(1)	p.R3073H(1)	large_intestine(1)	NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(9217-9219)cGc>cAc		trio Rho guanine nucleotide exchange factor							65.0	66.0	66.0					5																	14508455		2202	4294	6496	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14508455G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.9218G>A	5.37:g.14508455G>A	ENSP00000339299:p.Arg3073His					TRIO_ENST00000344135.5_Missense_Mutation_p.R572H|TRIO_ENST00000537187.1_Missense_Mutation_p.R2897H	p.R3073H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			57	9242	+	Lung NSC(4;0.000742)		3073					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.9218G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760381	0.89932	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000344135	T;T;T	0.68765	-0.34;-0.31;-0.35	5.72	5.72	0.89469	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.82360	0.5020	M	0.69823	2.125	0.39235	D	0.96374	D	0.89917	1.0	D	0.91635	0.999	D	0.84257	0.0481	10	0.87932	D	0	.	19.8755	0.96869	0.0:0.0:1.0:0.0	.	3073	O75962	TRIO_HUMAN	H	3073;2897;572	ENSP00000339299:R3073H;ENSP00000446348:R2897H;ENSP00000339291:R572H	ENSP00000339291:R572H	R	+	2	0	TRIO	14561455	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.689000	0.91719	0.650000	0.86243	CGC		0.547	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		32	102	0	0	0	1	0	32	102				
PARD3	56288	broad.mit.edu	37	10	34671726	34671726	+	Missense_Mutation	SNP	G	G	A	rs148582124		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:34671726G>A	ENST00000374789.3	-	9	1466	c.1141C>T	c.(1141-1143)Cgt>Tgt	p.R381C	PARD3_ENST00000544292.1_Missense_Mutation_p.R111C|PARD3_ENST00000374794.3_Missense_Mutation_p.R337C|PARD3_ENST00000545260.1_Missense_Mutation_p.R337C|PARD3_ENST00000374773.1_Missense_Mutation_p.R381C|PARD3_ENST00000374776.1_Missense_Mutation_p.R381C|PARD3_ENST00000545693.1_Missense_Mutation_p.R381C|PARD3_ENST00000374790.3_Missense_Mutation_p.R337C|PARD3_ENST00000340077.5_Missense_Mutation_p.R381C|PARD3_ENST00000350537.4_Missense_Mutation_p.R381C|PARD3_ENST00000346874.4_Missense_Mutation_p.R381C|PARD3_ENST00000374788.3_Missense_Mutation_p.R381C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	381					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GGGCTAAAACGGCTTGAATAG	0.488																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(1141-1143)Cgt>Tgt		par-3 family cell polarity regulator		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	151.0	147.0	148.0		1141,1141,1141,1141,1141,1009,1009,1141,1141,1141,1141	4.0	1.0	10	dbSNP_134	148	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	PARD3	NM_001184785.1,NM_001184786.1,NM_001184787.1,NM_001184788.1,NM_001184789.1,NM_001184790.1,NM_001184791.1,NM_001184792.1,NM_001184793.1,NM_001184794.1,NM_019619.3	180,180,180,180,180,180,180,180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	381/1354,381/1341,381/1320,381/1311,381/1274,337/1267,337/1245,381/1032,381/1001,381/989,381/1357	34671726	1,13005	2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34671726G>A	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1141C>T	10.37:g.34671726G>A	ENSP00000363921:p.Arg381Cys					PARD3_ENST00000374790.3_Missense_Mutation_p.R337C|PARD3_ENST00000545260.1_Missense_Mutation_p.R337C|PARD3_ENST00000374776.1_Missense_Mutation_p.R381C|PARD3_ENST00000374794.3_Missense_Mutation_p.R337C|PARD3_ENST00000374773.1_Missense_Mutation_p.R381C|PARD3_ENST00000350537.4_Missense_Mutation_p.R381C|PARD3_ENST00000346874.4_Missense_Mutation_p.R381C|PARD3_ENST00000545693.1_Missense_Mutation_p.R381C|PARD3_ENST00000340077.5_Missense_Mutation_p.R381C|PARD3_ENST00000374788.3_Missense_Mutation_p.R381C|PARD3_ENST00000544292.1_Missense_Mutation_p.R111C	p.R381C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			9	1466	-		Breast(68;0.0707)	381					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.1141C>T	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664302	0.47572	2.27E-4	0.0	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.19532	2.49;2.52;2.55;2.55;2.58;2.52;2.51;2.49;2.18;2.14;2.25;2.19	5.87	3.96	0.45880	.	0.360682	0.36374	N	0.002623	T	0.34716	0.0907	L	0.60455	1.87	0.58432	D	0.999999	B;D;B;D;P;B;D;P;P;D;D;D;D;P;B	0.69078	0.003;0.984;0.001;0.962;0.858;0.007;0.987;0.868;0.868;0.978;0.997;0.996;0.989;0.943;0.025	B;P;B;P;P;B;P;B;B;P;P;P;P;P;B	0.57152	0.006;0.681;0.002;0.66;0.562;0.009;0.814;0.359;0.359;0.656;0.726;0.748;0.764;0.742;0.012	T	0.04991	-1.0913	10	0.56958	D	0.05	.	11.8289	0.52283	0.1477:0.0:0.8523:0.0	.	337;337;381;381;381;381;381;381;337;381;381;381;381;381;111	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	C	381;337;381;381;381;337;381;337;381;381;381;111	ENSP00000443147:R381C;ENSP00000440857:R337C;ENSP00000363921:R381C;ENSP00000363920:R381C;ENSP00000340591:R381C;ENSP00000363926:R337C;ENSP00000311986:R381C;ENSP00000363922:R337C;ENSP00000363908:R381C;ENSP00000341844:R381C;ENSP00000363905:R381C;ENSP00000444429:R111C	ENSP00000341844:R381C	R	-	1	0	PARD3	34711732	1.000000	0.71417	0.958000	0.39756	0.044000	0.14063	2.782000	0.47758	0.753000	0.32945	-0.355000	0.07637	CGT		0.488	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		4	131	0	0	0	1	0	4	131				
POMC	5443	broad.mit.edu	37	2	25384061	25384061	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:25384061C>T	ENST00000405623.1	-	3	1148	c.693G>A	c.(691-693)ccG>ccA	p.P231P	POMC_ENST00000264708.3_Silent_p.P231P|POMC_ENST00000380794.1_Silent_p.P231P|POMC_ENST00000395826.2_Silent_p.P231P|RP11-509E16.1_ENST00000567599.1_lincRNA			P01189	COLI_HUMAN	proopiomelanocortin	231					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)	p.P231P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	TGTCCTTGGGCGGGCTGCCCC	0.642																																					Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1																			1	Substitution - coding silent(1)	p.P231P(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(691-693)ccG>ccA		proopiomelanocortin	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						35.0	37.0	36.0					2																	25384061		2203	4300	6503	SO:0001819	synonymous_variant	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25384061C>T		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.693G>A	2.37:g.25384061C>T						POMC_ENST00000264708.3_Silent_p.P231P|POMC_ENST00000395826.2_Silent_p.P231P|POMC_ENST00000380794.1_Silent_p.P231P	p.P231P			P01189	COLI_HUMAN			3	1148	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		231					P78442|Q53T23|Q9UD39|Q9UD40	Silent	SNP	ENST00000405623.1	37	c.693G>A	CCDS1717.1																																																																																				0.642	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		6	34	0	0	0	1	0	6	34				
NRAP	4892	broad.mit.edu	37	10	115365940	115365940	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:115365940A>G	ENST00000359988.3	-	33	4048	c.3804T>C	c.(3802-3804)agT>agC	p.S1268S	NRAP_ENST00000369360.3_Silent_p.S1241S|NRAP_ENST00000369358.4_Silent_p.S1276S|NRAP_ENST00000360478.3_Silent_p.S1233S	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGCTTACGTCACTCAGGTTGG	0.478																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3826-3828)agT>agC		nebulin-related anchoring protein							167.0	158.0	161.0					10																	115365940		2203	4300	6503	SO:0001819	synonymous_variant	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115365940A>G		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3804T>C	10.37:g.115365940A>G						NRAP_ENST00000369360.3_Silent_p.S1241S|NRAP_ENST00000360478.3_Silent_p.S1233S|NRAP_ENST00000359988.3_Silent_p.S1268S	p.S1276S			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	33	4072	-		Colorectal(252;0.0233)|Breast(234;0.188)	1268						Silent	SNP	ENST00000359988.3	37	c.3828T>C	CCDS7579.1																																																																																				0.478	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		19	53	0	0	0	1	0	19	53				
FAM204A	63877	broad.mit.edu	37	10	120070376	120070376	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:120070376T>C	ENST00000369183.4	-	9	954	c.695A>G	c.(694-696)tAc>tGc	p.Y232C	FAM204A_ENST00000469758.1_5'UTR|FAM204A_ENST00000369172.4_Missense_Mutation_p.Y232C	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	232										kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						AAGTTACATGTATCCCATGTT	0.323																																						ENST00000369183.4																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						c.(694-696)tAc>tGc		family with sequence similarity 204, member A							126.0	114.0	118.0					10																	120070376		2203	4300	6503	SO:0001583	missense	63877							g.chr10:120070376T>C	AK023250	CCDS7605.1	10q26.12	2011-06-01	2011-06-01	2011-06-01	ENSG00000165669	ENSG00000165669			25794	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 84"""	C10orf84		12477932	Standard	NM_022063		Approved	FLJ13188, bA319I23.1	uc010qss.1	Q9H8W3	OTTHUMG00000019131	ENST00000369183.4:c.695A>G	10.37:g.120070376T>C	ENSP00000358183:p.Tyr232Cys					FAM204A_ENST00000369172.4_Missense_Mutation_p.Y232C|FAM204A_ENST00000469758.1_5'UTR	p.Y232C	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN			9	954	-			232					D3DRC6|Q5T373|Q9H5V5	Missense_Mutation	SNP	ENST00000369183.4	37	c.695A>G	CCDS7605.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.340039	0.60963	.	.	ENSG00000165669	ENST00000369183;ENST00000369172	.	.	.	6.08	6.08	0.98989	.	0.152797	0.64402	D	0.000011	T	0.65903	0.2736	L	0.29908	0.895	0.51767	D	0.999936	D	0.76494	0.999	D	0.65874	0.939	T	0.69273	-0.5188	9	0.87932	D	0	-12.6475	16.643	0.85134	0.0:0.0:0.0:1.0	.	232	Q9H8W3	F204A_HUMAN	C	232	.	ENSP00000358170:Y232C	Y	-	2	0	FAM204A	120060366	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	3.603000	0.54074	2.330000	0.79161	0.533000	0.62120	TAC		0.323	FAM204A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050596.2	NM_022063		22	62	0	0	0	1	0	22	62				
MYT1	4661	broad.mit.edu	37	20	62839124	62839124	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:62839124C>A	ENST00000328439.1	+	7	939	c.575C>A	c.(574-576)cCt>cAt	p.P192H	MYT1_ENST00000536311.1_Missense_Mutation_p.P192H|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAGCCAGGTCCTGGCATTGTG	0.592																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(574-576)cCt>cAt		myelin transcription factor 1							51.0	52.0	52.0					20																	62839124		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839124C>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.575C>A	20.37:g.62839124C>A	ENSP00000327465:p.Pro192His					MYT1_ENST00000328439.1_Missense_Mutation_p.P192H|MYT1_ENST00000360149.4_Intron	p.P192H			Q01538	MYT1_HUMAN			7	939	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		192					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.575C>A	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	c	8.682	0.905441	0.17760	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.48201	0.82;0.83	4.35	4.35	0.52113	.	1.878580	0.02416	N	0.082118	T	0.48840	0.1522	L	0.47716	1.5	0.80722	D	1	P	0.45283	0.855	B	0.37198	0.243	T	0.51896	-0.8647	10	0.56958	D	0.05	-11.5311	16.5053	0.84270	0.0:1.0:0.0:0.0	.	192	Q01538	MYT1_HUMAN	H	192	ENSP00000327465:P192H;ENSP00000442412:P192H	ENSP00000327465:P192H	P	+	2	0	MYT1	62309568	0.000000	0.05858	0.063000	0.19743	0.030000	0.12068	0.894000	0.28350	1.984000	0.57885	0.552000	0.68991	CCT		0.592	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		24	58	1	0	7.92952e-12	1	8.24765e-12	24	58				
OR4A16	81327	broad.mit.edu	37	11	55111035	55111035	+	Missense_Mutation	SNP	G	G	A	rs374379880		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:55111035G>A	ENST00000314721.2	+	1	409	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GCCTATGATCGCTATGTGGCT	0.468																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(358-360)cGc>cAc		olfactory receptor, family 4, subfamily A, member 16							191.0	175.0	180.0					11																	55111035		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111035G>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.359G>A	11.37:g.55111035G>A	ENSP00000325128:p.Arg120His						p.R120H	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	409	+			120					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.359G>A	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	12.80	2.045765	0.36085	.	.	ENSG00000181961	ENST00000314721	T	0.77489	-1.1	2.69	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.80287	0.4595	M	0.89414	3.03	0.32693	N	0.513936	B	0.25743	0.133	B	0.27715	0.082	D	0.84204	0.0452	9	0.59425	D	0.04	.	11.0985	0.48160	0.0:0.0:1.0:0.0	.	120	Q8NH70	O4A16_HUMAN	H	120	ENSP00000325128:R120H	ENSP00000325128:R120H	R	+	2	0	OR4A16	54867611	0.880000	0.30214	1.000000	0.80357	0.513000	0.34164	5.070000	0.64376	1.509000	0.48786	0.423000	0.28283	CGC		0.468	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		48	174	0	0	0	1	0	48	174				
PVRL1	5818	broad.mit.edu	37	11	119535589	119535589	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:119535589G>A	ENST00000264025.3	-	6	1952	c.1422C>T	c.(1420-1422)gcC>gcT	p.A474A	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	474					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.A474A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GACGGGCCTCGGCCTCATCCA	0.657																																						ENST00000264025.3																			1	Substitution - coding silent(1)	p.A474A(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1420-1422)gcC>gcT		poliovirus receptor-related 1 (herpesvirus entry mediator C)							53.0	47.0	49.0					11																	119535589		2199	4295	6494	SO:0001819	synonymous_variant	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535589G>A	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1422C>T	11.37:g.119535589G>A						PVRL1_ENST00000341398.2_Intron	p.A474A	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1952	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	474					O75465|Q2M3D3|Q9HBE6|Q9HBW2	Silent	SNP	ENST00000264025.3	37	c.1422C>T	CCDS8426.1																																																																																				0.657	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			13	31	0	0	0	1	0	13	31				
BACH2	60468	broad.mit.edu	37	6	90661409	90661409	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:90661409C>T	ENST00000257749.4	-	7	1123	c.416G>A	c.(415-417)gGc>gAc	p.G139D	BACH2_ENST00000537989.1_Missense_Mutation_p.G139D|BACH2_ENST00000343122.3_Missense_Mutation_p.G139D|RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	139						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CACAAACAGGCCATCCTCACT	0.597																																						ENST00000257749.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(415-417)gGc>gAc		BTB and CNC homology 1, basic leucine zipper transcription factor 2							64.0	57.0	60.0					6																	90661409		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90661409C>T	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.416G>A	6.37:g.90661409C>T	ENSP00000257749:p.Gly139Asp					BACH2_ENST00000537989.1_Missense_Mutation_p.G139D|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.G139D|RP3-512E2.2_ENST00000445838.1_RNA	p.G139D	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	1123	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	139					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.416G>A	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613386	0.46631	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.39592	1.07;1.07;1.07	5.79	5.79	0.91817	.	0.097933	0.64402	D	0.000001	T	0.38532	0.1044	L	0.28556	0.865	0.58432	D	0.999994	D	0.89917	1.0	D	0.70227	0.968	T	0.06516	-1.0822	10	0.06891	T	0.86	-20.7211	20.0361	0.97558	0.0:1.0:0.0:0.0	.	139	Q9BYV9	BACH2_HUMAN	D	139	ENSP00000257749:G139D;ENSP00000437473:G139D;ENSP00000345642:G139D	ENSP00000257749:G139D	G	-	2	0	BACH2	90718130	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.763000	0.68818	2.740000	0.93945	0.563000	0.77884	GGC		0.597	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		16	77	0	0	0	1	0	16	77				
OR2G6	391211	broad.mit.edu	37	1	248685673	248685673	+	Silent	SNP	G	G	A	rs552819557		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:248685673G>A	ENST00000343414.4	+	1	758	c.726G>A	c.(724-726)tcG>tcA	p.S242S		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGACCTGTTCGTCTCACCTGG	0.463																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(724-726)tcG>tcA		olfactory receptor, family 2, subfamily G, member 6							112.0	113.0	113.0					1																	248685673		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685673G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.726G>A	1.37:g.248685673G>A							p.S242S	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	758	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	242					B2RP33	Silent	SNP	ENST00000343414.4	37	c.726G>A	CCDS31119.1																																																																																				0.463	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		5	107	0	0	0	1	0	5	107				
SP100	6672	broad.mit.edu	37	2	231331885	231331885	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:231331885G>A	ENST00000264052.5	+	13	1601	c.1246G>A	c.(1246-1248)Gca>Aca	p.A416T	SP100_ENST00000341950.4_Missense_Mutation_p.A416T|SP100_ENST00000409824.1_Missense_Mutation_p.A391T|SP100_ENST00000409897.1_Missense_Mutation_p.A381T|SP100_ENST00000340126.4_Missense_Mutation_p.A416T|SP100_ENST00000409112.1_Missense_Mutation_p.A416T|SP100_ENST00000427101.2_Missense_Mutation_p.A391T|SP100_ENST00000409341.1_Missense_Mutation_p.A416T	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	416	Sufficient to mediate interaction with ETS1.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGAGGCGCCCGCAGAAGCCTC	0.527																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(1246-1248)Gca>Aca		SP100 nuclear antigen							111.0	125.0	120.0					2																	231331885		2203	4300	6503	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231331885G>A	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1246G>A	2.37:g.231331885G>A	ENSP00000264052:p.Ala416Thr					SP100_ENST00000409112.1_Missense_Mutation_p.A416T|SP100_ENST00000427101.2_Missense_Mutation_p.A391T|SP100_ENST00000341950.4_Missense_Mutation_p.A416T|SP100_ENST00000409897.1_Missense_Mutation_p.A381T|SP100_ENST00000340126.4_Missense_Mutation_p.A416T|SP100_ENST00000409341.1_Missense_Mutation_p.A416T|SP100_ENST00000409824.1_Missense_Mutation_p.A391T	p.A416T	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	13	1601	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	416					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.1246G>A	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	G	3.678	-0.066041	0.07273	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897;ENST00000452345	T;T;T;T;T;T;T;T;T	0.79845	2.34;2.21;2.24;2.23;-1.31;0.27;2.22;2.23;0.89	3.83	-7.67	0.01272	.	2.577270	0.02106	N	0.054379	T	0.56366	0.1980	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.001;0.0;0.0	B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.53830	-0.8383	10	0.19147	T	0.46	.	3.8759	0.09056	0.19:0.151:0.0944:0.5646	.	391;381;416;416;416;391;416	F8WFE2;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;SP100_HUMAN;.;.;.	T	416;391;391;416;416;416;416;381;81	ENSP00000264052:A416T;ENSP00000399389:A391T;ENSP00000387311:A391T;ENSP00000386404:A416T;ENSP00000386427:A416T;ENSP00000343023:A416T;ENSP00000342729:A416T;ENSP00000386998:A381T;ENSP00000416563:A81T	ENSP00000264052:A416T	A	+	1	0	SP100	231040129	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.241000	0.01196	-3.135000	0.00235	-1.199000	0.01669	GCA		0.527	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		47	169	0	0	0	1	0	47	169				
TNPO2	30000	broad.mit.edu	37	19	12822153	12822153	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:12822153C>T	ENST00000592287.1	-	11	1182	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	TNPO2_ENST00000356861.5_Silent_p.A358A|TNPO2_ENST00000441499.1_Silent_p.A358A|TNPO2_ENST00000450764.2_Silent_p.A358A|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000588216.1_Silent_p.A358A|TNPO2_ENST00000425528.1_Silent_p.A358A	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	358					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGTCATCCTCCGCGTCCTCGG	0.627																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1072-1074)gcG>gcA		transportin 2							172.0	183.0	179.0					19																	12822153		2199	4287	6486	SO:0001819	synonymous_variant	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12822153C>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1074G>A	19.37:g.12822153C>T						TNPO2_ENST00000356861.5_Silent_p.A358A|TNPO2_ENST00000450764.2_Silent_p.A358A|TNPO2_ENST00000592287.1_Silent_p.A358A|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000441499.1_Silent_p.A358A|TNPO2_ENST00000588216.1_Silent_p.A358A	p.A358A			O14787	TNPO2_HUMAN			12	1431	-			358					O14655|Q6IN77	Silent	SNP	ENST00000592287.1	37	c.1074G>A	CCDS45991.1																																																																																				0.627	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		62	207	0	0	0	1	0	62	207				
EFHB	151651	broad.mit.edu	37	3	19975431	19975431	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:19975431G>A	ENST00000295824.9	-	1	241	c.80C>T	c.(79-81)cCc>cTc	p.P27L	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Intron	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	27							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CAACTCCATGGGAAATTTTGT	0.483																																						ENST00000295824.9																			0				breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						c.(79-81)cCc>cTc		EF-hand domain family, member B							47.0	46.0	46.0					3																	19975431		1879	4112	5991	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19975431G>A	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.80C>T	3.37:g.19975431G>A	ENSP00000295824:p.Pro27Leu					EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Intron	p.P27L	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN			1	241	-			27					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.80C>T	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077282	0.36662	.	.	ENSG00000163576	ENST00000295824;ENST00000389256	T;T	0.39787	1.06;1.25	4.07	3.11	0.35812	.	.	.	.	.	T	0.36936	0.0985	L	0.52573	1.65	0.23168	N	0.998181	D	0.54207	0.965	B	0.42738	0.396	T	0.19647	-1.0299	8	.	.	.	-6.8105	9.1156	0.36755	0.0:0.2246:0.7754:0.0	.	27	Q8N7U6	EFHB_HUMAN	L	27	ENSP00000295824:P27L;ENSP00000373908:P27L	.	P	-	2	0	EFHB	19950435	0.130000	0.22417	0.505000	0.27651	0.084000	0.17831	1.709000	0.37909	2.251000	0.74343	0.484000	0.47621	CCC		0.483	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		8	28	0	0	0	1	0	8	28				
CYP4Z2P	163720	broad.mit.edu	37	1	47338931	47338931	+	RNA	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:47338931T>C	ENST00000505841.1	-	0	863					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CACTCAAAAGTATGTCCAGAA	0.383																																						ENST00000505841.1																			0																																																			163720							g.chr1:47338931T>C	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47338931T>C								NR_002788.2						0	863	-								Q66ZJ5	RNA	SNP	ENST00000505841.1	37																																																																																						0.383	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		9	29	0	0	0	1	0	9	29				
C1orf56	54964	broad.mit.edu	37	1	151021320	151021320	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:151021320A>T	ENST00000368926.5	+	1	1105	c.997A>T	c.(997-999)Atg>Ttg	p.M333L	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	333						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTTCACAGAGATGCAACCAGT	0.522											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(146;891 3320 6873)	ENST00000368926.5																			0				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						c.(997-999)Atg>Ttg		chromosome 1 open reading frame 56							76.0	73.0	74.0					1																	151021320		2203	4300	6503	SO:0001583	missense	54964					extracellular region		g.chr1:151021320A>T	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.997A>T	1.37:g.151021320A>T	ENSP00000357922:p.Met333Leu		OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1737	C1orf56_ENST00000465135.1_3'UTR	p.M333L	NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	1105	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		333					B2RDU8|Q9NWZ4	Missense_Mutation	SNP	ENST00000368926.5	37	c.997A>T	CCDS980.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057043	0.76074	.	.	ENSG00000143443	ENST00000368926	.	.	.	4.98	3.87	0.44632	.	0.232507	0.31233	N	0.008009	T	0.10165	0.0249	L	0.27053	0.805	0.21841	N	0.999515	P	0.35872	0.525	B	0.33454	0.164	T	0.05500	-1.0881	9	0.48119	T	0.1	-14.8027	6.8565	0.24044	0.899:0.0:0.101:0.0	.	333	Q9BUN1	CA056_HUMAN	L	333	.	ENSP00000357922:M333L	M	+	1	0	C1orf56	149287944	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.528000	0.45624	2.212000	0.71576	0.533000	0.62120	ATG		0.522	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1	NM_017860		31	108	0	0	0	1	0	31	108				
KRT75	9119	broad.mit.edu	37	12	52824429	52824429	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52824429T>C	ENST00000252245.5	-	5	1151	c.931A>G	c.(931-933)Aac>Gac	p.N311D	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	311	Linker 12.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		AGGTTGCGGTTGTTGTCCATG	0.572																																						ENST00000252245.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(931-933)Aac>Gac		keratin 75							192.0	162.0	172.0					12																	52824429		2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52824429T>C	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.931A>G	12.37:g.52824429T>C	ENSP00000252245:p.Asn311Asp						p.N311D	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	5	1151	-			311			Linker 12.|Rod.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.931A>G	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	T	32	5.132816	0.94517	.	.	ENSG00000170454	ENST00000252245	D	0.86432	-2.12	5.73	5.73	0.89815	Prefoldin (1);Filament (1);	0.200774	0.34314	N	0.004066	D	0.94794	0.8319	M	0.91920	3.255	0.44380	D	0.997288	D	0.89917	1.0	D	0.78314	0.991	D	0.95786	0.8821	10	0.87932	D	0	.	16.0233	0.80516	0.0:0.0:0.0:1.0	.	311	O95678	K2C75_HUMAN	D	311	ENSP00000252245:N311D	ENSP00000252245:N311D	N	-	1	0	KRT75	51110696	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.950000	0.87804	2.186000	0.69663	0.533000	0.62120	AAC		0.572	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		59	202	0	0	0	1	0	59	202				
FLNA	2316	broad.mit.edu	37	X	153587512	153587512	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:153587512G>C	ENST00000369850.3	-	26	4550	c.4314C>G	c.(4312-4314)ttC>ttG	p.F1438L	FLNA_ENST00000360319.4_Missense_Mutation_p.F1438L|FLNA_ENST00000422373.1_Missense_Mutation_p.F1438L|FLNA_ENST00000344736.4_Missense_Mutation_p.F1438L|FLNA_ENST00000369856.3_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1438					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGGACCTTGAAAGGACTGC	0.632																																						ENST00000422373.1																			0				breast(6)	6						c.(4312-4314)ttC>ttG		filamin A, alpha							130.0	138.0	135.0					X																	153587512		2132	4219	6351	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153587512G>C	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4314C>G	X.37:g.153587512G>C	ENSP00000358866:p.Phe1438Leu					FLNA_ENST00000369850.3_Missense_Mutation_p.F1438L|FLNA_ENST00000360319.4_Missense_Mutation_p.F1438L|FLNA_ENST00000344736.4_Missense_Mutation_p.F1438L	p.F1438L	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			26	4562	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1438					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.4314C>G	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335855	0.60853	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32	5.69	4.83	0.62350	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93572	0.7948	M	0.88775	2.98	0.80722	D	1	D;P	0.76494	0.999;0.767	D;P	0.83275	0.996;0.753	D	0.93462	0.6811	10	0.62326	D	0.03	.	10.1609	0.42851	0.1559:0.0:0.8441:0.0	.	1438;1438	P21333-2;P21333	.;FLNA_HUMAN	L	1438;1411;1438;1438;1438	ENSP00000353467:F1438L;ENSP00000416926:F1438L;ENSP00000358866:F1438L;ENSP00000358863:F1438L	ENSP00000358863:F1438L	F	-	3	2	FLNA	153240706	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	3.159000	0.50731	1.162000	0.42619	-0.191000	0.12829	TTC		0.632	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			98	81	0	0	0	1	0	98	81				
CCDC142	84865	broad.mit.edu	37	2	74702467	74702467	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:74702467A>G	ENST00000393965.3	-	7	2077	c.1681T>C	c.(1681-1683)Ttg>Ctg	p.L561L	MRPL53_ENST00000409710.1_5'Flank|CCDC142_ENST00000290418.4_Silent_p.L554L|MRPL53_ENST00000258105.7_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	561										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						AATCCTTGCAACACAGGCTCC	0.557																																						ENST00000393965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						c.(1681-1683)Ttg>Ctg		coiled-coil domain containing 142							73.0	75.0	75.0					2																	74702467		2203	4300	6503	SO:0001819	synonymous_variant	84865							g.chr2:74702467A>G	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.1681T>C	2.37:g.74702467A>G						CCDC142_ENST00000290418.4_Silent_p.L554L	p.L561L	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN			7	2077	-			561					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Silent	SNP	ENST00000393965.3	37	c.1681T>C																																																																																					0.557	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		38	104	0	0	0	1	0	38	104				
SIN3B	23309	broad.mit.edu	37	19	16973259	16973259	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:16973259A>G	ENST00000248054.5	+	9	1176	c.1155A>G	c.(1153-1155)atA>atG	p.I385M	SIN3B_ENST00000379803.1_Missense_Mutation_p.I385M|SIN3B_ENST00000595541.1_5'Flank					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGGACGGGATAAGCCGGGAAA	0.552																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1153-1155)atA>atG		SIN3 transcription regulator family member B							77.0	73.0	75.0					19																	16973259		2203	4300	6503	SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16973259A>G	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1155A>G	19.37:g.16973259A>G	ENSP00000248054:p.Ile385Met					SIN3B_ENST00000248054.5_Missense_Mutation_p.I385M	p.I385M	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			9	1169	+			385			Interaction with NCOR1 (By similarity).			Missense_Mutation	SNP	ENST00000248054.5	37	c.1155A>G		.	.	.	.	.	.	.	.	.	.	A	8.468	0.856820	0.17106	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.46819	0.86;0.9	4.73	-4.03	0.04021	.	0.269787	0.41938	N	0.000792	T	0.34890	0.0913	M	0.69823	2.125	0.19300	N	0.99998	B;B	0.17268	0.021;0.012	B;B	0.19391	0.025;0.011	T	0.22521	-1.0214	10	0.32370	T	0.25	-0.1756	2.1106	0.03702	0.1342:0.2752:0.3479:0.2427	.	385;385	O75182-2;O75182	.;SIN3B_HUMAN	M	385	ENSP00000369131:I385M;ENSP00000248054:I385M	ENSP00000248054:I385M	I	+	3	3	SIN3B	16834259	0.548000	0.26473	0.006000	0.13384	0.810000	0.45777	-0.277000	0.08502	-1.160000	0.02804	0.459000	0.35465	ATA		0.552	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		24	66	0	0	0	1	0	24	66				
TEK	7010	broad.mit.edu	37	9	27217744	27217744	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:27217744C>T	ENST00000380036.4	+	19	3492	c.3050C>T	c.(3049-3051)aCc>aTc	p.T1017I	TEK_ENST00000519097.1_Missense_Mutation_p.T869I|TEK_ENST00000406359.4_Missense_Mutation_p.T974I	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1017	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GTGTACACAACCAACAGTGAT	0.428																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(3049-3051)aCc>aTc		TEK tyrosine kinase, endothelial							123.0	126.0	125.0					9																	27217744		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27217744C>T	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3050C>T	9.37:g.27217744C>T	ENSP00000369375:p.Thr1017Ile					TEK_ENST00000406359.4_Missense_Mutation_p.T974I|TEK_ENST00000519097.1_Missense_Mutation_p.T869I	p.T1017I	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	19	3492	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	1017			Protein kinase.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.3050C>T	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697008	0.88830	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	D;D;D	0.83163	-1.69;-1.69;-1.69	4.36	4.36	0.52297	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46758	D	0.000267	D	0.88085	0.6342	L	0.45352	1.415	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.83275	0.949;0.996;0.949	D	0.89592	0.3828	10	0.87932	D	0	.	17.4452	0.87577	0.0:1.0:0.0:0.0	.	869;1050;1017	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	I	869;1017;974	ENSP00000430686:T869I;ENSP00000369375:T1017I;ENSP00000383977:T974I	ENSP00000369375:T1017I	T	+	2	0	TEK	27207744	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.801000	0.69115	2.414000	0.81942	0.591000	0.81541	ACC		0.428	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			15	61	0	0	0	1	0	15	61				
TMUB2	79089	broad.mit.edu	37	17	42272027	42272027	+	IGR	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:42272027G>C	ENST00000587989.1	+	0	1969				ATXN7L3_ENST00000593073.1_5'UTR|ATXN7L3_ENST00000389384.4_Silent_p.V251V|ATXN7L3_ENST00000454077.2_Silent_p.V258V			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2							integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGGAGCTCTCGACCTCTGGAA	0.557																																						ENST00000389384.4																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						c.(751-753)gtC>gtG		ataxin 7-like 3							46.0	49.0	48.0					17																	42272027		1988	4153	6141	SO:0001628	intergenic_variant	56970				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding	g.chr17:42272027G>C		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4			17.37:g.42272027G>C						ATXN7L3_ENST00000593073.1_5'UTR|ATXN7L3_ENST00000454077.2_Silent_p.V258V	p.V251V	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	11	1061	-		Breast(137;0.00765)|Prostate(33;0.0181)	251			SCA7.		B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Silent	SNP	ENST00000587989.1	37	c.753C>G	CCDS54134.1																																																																																				0.557	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		19	46	0	0	0	1	0	19	46				
HECTD1	25831	broad.mit.edu	37	14	31583197	31583197	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:31583197T>C	ENST00000399332.1	-	32	6230	c.5742A>G	c.(5740-5742)atA>atG	p.I1914M	HECTD1_ENST00000553700.1_Missense_Mutation_p.I1914M	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1914					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GCAGGTAGGTTATCAAGTCAT	0.423																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(5740-5742)atA>atG		HECT domain containing E3 ubiquitin protein ligase 1							105.0	95.0	98.0					14																	31583197		1908	4127	6035	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31583197T>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5742A>G	14.37:g.31583197T>C	ENSP00000382269:p.Ile1914Met					HECTD1_ENST00000553700.1_Missense_Mutation_p.I1914M	p.I1914M	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	32	6230	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1914					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.5742A>G	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.262284	0.59431	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.11063	2.81;2.81;2.81	5.69	5.69	0.88448	.	0.172749	0.35207	U	0.003373	T	0.17450	0.0419	N	0.22421	0.69	0.51233	D	0.999911	D;D	0.57571	0.98;0.98	D;D	0.64321	0.924;0.924	T	0.02797	-1.1109	10	0.42905	T	0.14	-15.0407	11.8929	0.52638	0.0:0.0:0.1454:0.8545	.	1914;1914	D3DS86;Q9ULT8	.;HECD1_HUMAN	M	1914;1916;1914;1341	ENSP00000450697:I1914M;ENSP00000382269:I1914M;ENSP00000451860:I1341M	ENSP00000261312:I1916M	I	-	3	3	HECTD1	30652948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.944000	0.63561	2.162000	0.67917	0.528000	0.53228	ATA		0.423	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			13	45	0	0	0	1	0	13	45				
RTN1	6252	broad.mit.edu	37	14	60193834	60193834	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:60193834A>G	ENST00000267484.5	-	3	1903	c.1568T>C	c.(1567-1569)cTc>cCc	p.L523P		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	523					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGGGTAGTCGAGGAAGGAACC	0.701																																						ENST00000267484.5																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(1567-1569)cTc>cCc		reticulon 1							13.0	16.0	15.0					14																	60193834		2198	4290	6488	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60193834A>G	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1568T>C	14.37:g.60193834A>G	ENSP00000267484:p.Leu523Pro						p.L523P	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	3	1903	-			523					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.1568T>C	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.658155	0.29425	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000433623	T	0.24538	1.85	4.93	-6.47	0.01902	.	1.069740	0.07202	N	0.857567	T	0.18841	0.0452	M	0.61703	1.905	0.19775	N	0.999953	B	0.12630	0.006	B	0.08055	0.003	T	0.30966	-0.9960	10	0.29301	T	0.29	.	2.9154	0.05751	0.4165:0.1168:0.3532:0.1134	.	523	Q16799	RTN1_HUMAN	P	103;523;449	ENSP00000267484:L523P	ENSP00000267484:L523P	L	-	2	0	RTN1	59263587	0.077000	0.21312	0.000000	0.03702	0.001000	0.01503	1.261000	0.32980	-1.288000	0.02378	-0.468000	0.05107	CTC		0.701	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			7	11	0	0	0	1	0	7	11				
BORA	79866	broad.mit.edu	37	13	73318699	73318699	+	Splice_Site	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:73318699G>A	ENST00000390667.5	+	7	608	c.511G>A	c.(511-513)Ggt>Agt	p.G171S	BORA_ENST00000377815.3_Splice_Site_p.G101S|BORA_ENST00000464754.1_3'UTR	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	171					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										AAATATATTAGGTAAATACTG	0.318																																						ENST00000390667.5																			0											c.e7+1		bora, aurora kinase A activator							47.0	45.0	45.0					13																	73318699		1794	4063	5857	SO:0001630	splice_region_variant	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73318699G>A	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.511+1G>A	13.37:g.73318699G>A						BORA_ENST00000377815.3_Splice_Site_p.G101_splice|BORA_ENST00000464754.1_3'UTR	p.G171_splice	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN			7	608	+			171					B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Splice_Site	SNP	ENST00000390667.5	37	c.511_splice	CCDS9446.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.226077|5.226077	0.95173|0.95173	.|.	.|.	ENSG00000136122|ENSG00000136122	ENST00000377815;ENST00000390667|ENST00000377814	T;T|.	0.53423|.	0.62;1.18|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72803|0.72803	0.3506|0.3506	L|L	0.55213|0.55213	1.73|1.73	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|.	0.999;0.998;1.0;0.998|.	T|T	0.67604|0.67604	-0.5628|-0.5628	10|5	0.62326|.	D|.	0.03|.	-31.7034|-31.7034	20.3368|20.3368	0.98748|0.98748	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	101;171;231;171|.	B4DQ30;A8K631;B5LMG6;Q6PGQ7|.	.;.;.;BORA_HUMAN|.	S|K	101;171|148	ENSP00000367046:G101S;ENSP00000375082:G171S|.	ENSP00000367046:G101S|.	G|R	+|+	1|2	0|0	BORA|BORA	72216700|72216700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	7.233000|7.233000	0.78125|0.78125	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	GGT|AGG		0.318	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808	Missense_Mutation	7	27	0	0	0	1	0	7	27				
DOK6	220164	broad.mit.edu	37	18	67345062	67345062	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:67345062G>A	ENST00000382713.5	+	4	572	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	128										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CGACCTTCTGGCCGCAGGAGT	0.527																																						ENST00000382713.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20						c.(382-384)Gcc>Acc		docking protein 6							79.0	72.0	75.0					18																	67345062		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67345062G>A	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.382G>A	18.37:g.67345062G>A	ENSP00000372160:p.Ala128Thr					DOK6_ENST00000584435.1_3'UTR	p.A128T	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN			4	572	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	128					A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.382G>A	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352312	0.61293	.	.	ENSG00000206052	ENST00000382713	T	0.80214	-1.35	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.69015	0.3064	L	0.34521	1.04	0.80722	D	1	B	0.33512	0.415	B	0.27796	0.083	T	0.65730	-0.6097	10	0.10636	T	0.68	-6.7249	16.9217	0.86166	0.0:0.0:1.0:0.0	.	128	Q6PKX4	DOK6_HUMAN	T	128	ENSP00000372160:A128T	ENSP00000372160:A128T	A	+	1	0	DOK6	65496042	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.221000	0.95188	2.937000	0.99478	0.650000	0.86243	GCC		0.527	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		6	77	0	0	0	1	0	6	77				
PPFIBP1	8496	broad.mit.edu	37	12	27845536	27845536	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:27845536G>A	ENST00000318304.8	+	28	3179	c.2896G>A	c.(2896-2898)Gaa>Aaa	p.E966K	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.E935K|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.E813K|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.E960K	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	966					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GGAAGATTCAGAAGGGACAGT	0.358																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(2896-2898)Gaa>Aaa		PTPRF interacting protein, binding protein 1 (liprin beta 1)							199.0	189.0	193.0					12																	27845536		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27845536G>A	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2896G>A	12.37:g.27845536G>A	ENSP00000314724:p.Glu966Lys					PPFIBP1_ENST00000542629.1_Missense_Mutation_p.E935K|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.E960K|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.E813K	p.E966K	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			28	3179	+	Lung SC(9;0.0873)		966					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.2896G>A	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097965	0.94197	.	.	ENSG00000110841	ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T	0.40225	1.04;1.47;1.47;1.5	5.56	5.56	0.83823	.	0.000000	0.35013	U	0.003515	T	0.64659	0.2618	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.998;0.986;0.999	T	0.65150	-0.6238	10	0.72032	D	0.01	-26.6701	19.5002	0.95091	0.0:0.0:1.0:0.0	.	966;960;935	Q86W92;Q86W92-2;Q86W92-4	LIPB1_HUMAN;.;.	K	813;966;935;960	ENSP00000445425:E813K;ENSP00000314724:E966K;ENSP00000443442:E935K;ENSP00000228425:E960K	ENSP00000228425:E960K	E	+	1	0	PPFIBP1	27736803	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.434000	0.97515	2.776000	0.95493	0.655000	0.94253	GAA		0.358	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		20	170	0	0	0	1	0	20	170				
ARHGEF18	23370	broad.mit.edu	37	19	7521272	7521272	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:7521272T>A	ENST00000359920.6	+	8	1853	c.1600T>A	c.(1600-1602)Tac>Aac	p.Y534N	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.Y376N|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.N491K	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	534	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AGATCAGAAATACGTCTTTGC	0.488																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(1600-1602)Tac>Aac		Rho/Rac guanine nucleotide exchange factor (GEF) 18							355.0	328.0	337.0					19																	7521272		2203	4300	6503	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7521272T>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1600T>A	19.37:g.7521272T>A	ENSP00000352995:p.Tyr534Asn					ARHGEF18_ENST00000319670.9_Missense_Mutation_p.Y376N|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.N491K	p.Y534N	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			8	1853	+		Renal(5;0.0902)	534			PH.		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.1600T>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.129465	0.56721	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.65732	-0.17;-0.17	4.7	4.7	0.59300	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.49916	D	0.000129	T	0.80465	0.4628	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.83870	0.0273	10	0.87932	D	0	-16.6559	12.1207	0.53889	0.0:0.0:0.0:1.0	.	376;534	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	N	376;534	ENSP00000319200:Y376N;ENSP00000352995:Y534N	ENSP00000319200:Y376N	Y	+	1	0	ARHGEF18	7427272	1.000000	0.71417	0.930000	0.37139	0.207000	0.24258	5.742000	0.68646	1.759000	0.51996	0.533000	0.62120	TAC		0.488	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		16	607	0	0	0	1	0	16	607				
CECR2	27443	broad.mit.edu	37	22	18022173	18022173	+	Missense_Mutation	SNP	A	A	G	rs188173829		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:18022173A>G	ENST00000400585.2	+	16	2290	c.1852A>G	c.(1852-1854)Acg>Gcg	p.T618A	CECR2_ENST00000400573.5_Missense_Mutation_p.T759A|CECR2_ENST00000262608.8_Missense_Mutation_p.T760A			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	801					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCATGGTGCTACGAACCAAGG	0.552													A|||	1	0.000199681	0.0	0.0	5008	,	,		18378	0.001		0.0	False		,,,				2504	0.0					ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2278-2280)Acg>Gcg		cat eye syndrome chromosome region, candidate 2							40.0	46.0	44.0					22																	18022173		1966	4145	6111	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022173A>G	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1852A>G	22.37:g.18022173A>G	ENSP00000383428:p.Thr618Ala					CECR2_ENST00000400585.2_Missense_Mutation_p.T618A|CECR2_ENST00000400573.4_Missense_Mutation_p.T759A	p.T760A	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2278	+		all_epithelial(15;0.139)	801					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.2278A>G		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	6.510	0.462296	0.12342	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.23348	2.05;2.05;1.91	5.29	-4.27	0.03744	.	0.715083	0.12666	N	0.449205	T	0.14270	0.0345	N	0.20401	0.57	0.20403	N	0.999908	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.33904	-0.9850	10	0.09843	T	0.71	-0.5973	17.2659	0.87086	0.3086:0.0:0.6914:0.0	.	801;618;759	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	A	618;759;760	ENSP00000383428:T618A;ENSP00000383417:T759A;ENSP00000262608:T760A	ENSP00000262608:T760A	T	+	1	0	CECR2	16402173	0.000000	0.05858	0.875000	0.34327	0.845000	0.48019	-0.833000	0.04396	-0.772000	0.04602	0.459000	0.35465	ACG		0.552	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		14	55	0	0	0	1	0	14	55				
TMED8	283578	broad.mit.edu	37	14	77809655	77809655	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:77809655G>A	ENST00000216468.7	-	5	681	c.626C>T	c.(625-627)gCg>gTg	p.A209V		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	209	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GTCATCGGTCGCAAACTCCCA	0.522																																						ENST00000216468.7																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15						c.(625-627)gCg>gTg		transmembrane emp24 protein transport domain containing 8							112.0	87.0	95.0					14																	77809655		2203	4300	6503	SO:0001583	missense	283578				transport	integral to membrane		g.chr14:77809655G>A	AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.626C>T	14.37:g.77809655G>A	ENSP00000216468:p.Ala209Val						p.A209V	NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	5	681	-			209			GOLD.		B3KTI6|Q3MJB0|Q9P1V9	Missense_Mutation	SNP	ENST00000216468.7	37	c.626C>T	CCDS32125.1	.	.	.	.	.	.	.	.	.	.	G	36	5.657961	0.96734	.	.	ENSG00000100580	ENST00000216468	T	0.47528	0.84	5.98	5.98	0.97165	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.75347	0.3837	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77830	-0.2442	10	0.72032	D	0.01	.	20.4293	0.99080	0.0:0.0:1.0:0.0	.	209	Q6PL24	TMED8_HUMAN	V	209	ENSP00000216468:A209V	ENSP00000216468:A209V	A	-	2	0	TMED8	76879408	1.000000	0.71417	0.970000	0.41538	0.914000	0.54420	9.476000	0.97823	2.833000	0.97629	0.655000	0.94253	GCG		0.522	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601		22	55	0	0	0	1	0	22	55				
COL16A1	1307	broad.mit.edu	37	1	32157018	32157018	+	Splice_Site	SNP	C	C	T	rs569873845		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:32157018C>T	ENST00000373672.3	-	19	1914	c.1398G>A	c.(1396-1398)ccG>ccA	p.P466P	COL16A1_ENST00000373668.3_Splice_Site_p.P466P|COL16A1_ENST00000271069.6_Splice_Site_p.P466P	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	466	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGGTACTCACCGGGGTCCCAG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		13883	0.0		0.0	False		,,,				2504	0.001				Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.e19+1		collagen, type XVI, alpha 1							35.0	44.0	41.0					1																	32157018		1891	4105	5996	SO:0001630	splice_region_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32157018C>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1398+1G>A	1.37:g.32157018C>T						COL16A1_ENST00000373668.3_Splice_Site_p.P466_splice|COL16A1_ENST00000271069.6_Splice_Site_p.P466_splice	p.P466_splice	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	19	1914	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	466			Triple-helical region 9 (COL9) with 3 imperfections.		Q16593|Q59F89|Q71RG9	Splice_Site	SNP	ENST00000373672.3	37	c.1398_splice	CCDS41297.1																																																																																				0.667	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	Silent	19	51	0	0	0	1	0	19	51				
NPC1	4864	broad.mit.edu	37	18	21136222	21136222	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:21136222T>C	ENST00000269228.5	-	8	1865	c.1311A>G	c.(1309-1311)atA>atG	p.I437M	NPC1_ENST00000412552.2_Missense_Mutation_p.I187M|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	437					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCAGTATCTGTATGTCAAGCG	0.498																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(1309-1311)atA>atG		Niemann-Pick disease, type C1							121.0	112.0	115.0					18																	21136222		2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21136222T>C	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1311A>G	18.37:g.21136222T>C	ENSP00000269228:p.Ile437Met					NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.I187M	p.I437M	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			8	1865	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		437					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.1311A>G	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	T	8.871	0.949362	0.18356	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.88354	-2.37;-2.37	5.53	0.0779	0.14410	.	0.722591	0.14444	N	0.319190	T	0.70011	0.3175	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.57435	-0.7812	10	0.34782	T	0.22	0.1626	2.5213	0.04681	0.2364:0.0647:0.246:0.4529	.	448;437	Q59GR1;O15118	.;NPC1_HUMAN	M	437;187;282	ENSP00000269228:I437M;ENSP00000408606:I187M	ENSP00000269228:I437M	I	-	3	3	NPC1	19390220	0.040000	0.19996	0.002000	0.10522	0.689000	0.40095	0.718000	0.25866	-0.135000	0.11495	0.533000	0.62120	ATA		0.498	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		24	84	0	0	0	1	0	24	84				
T	6862	broad.mit.edu	37	6	166571971	166571971	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:166571971G>A	ENST00000296946.2	-	9	1608	c.1140C>T	c.(1138-1140)ccC>ccT	p.P380P	T_ENST00000366871.3_Silent_p.P322P	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	380					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGTAGTGCGCGGGGGAGCCCC	0.711									Chordoma, Familial Clustering of																													ENST00000296946.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(1138-1140)ccC>ccT		T, brachyury homolog (mouse)							28.0	36.0	33.0					6																	166571971		2202	4298	6500	SO:0001819	synonymous_variant	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166571971G>A	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1140C>T	6.37:g.166571971G>A						T_ENST00000366871.3_Silent_p.P322P	p.P380P	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	9	1608	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	380					E7ERD6|Q4KMP4	Silent	SNP	ENST00000296946.2	37	c.1140C>T	CCDS5290.1																																																																																				0.711	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		28	59	0	0	0	1	0	28	59				
ZNF79	7633	broad.mit.edu	37	9	130206653	130206653	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:130206653A>G	ENST00000342483.5	+	5	1080	c.674A>G	c.(673-675)gAa>gGa	p.E225G	ZNF79_ENST00000543471.1_Missense_Mutation_p.E201G	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	225					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)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAGTGCAGTGAATGTGGGAAG	0.488																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(673-675)gAa>gGa		zinc finger protein 79							88.0	84.0	86.0					9																	130206653		2203	4300	6503	SO:0001583	missense	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130206653A>G	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.674A>G	9.37:g.130206653A>G	ENSP00000362446:p.Glu225Gly					ZNF79_ENST00000543471.1_Missense_Mutation_p.E201G	p.E225G	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN			5	1080	+			225					Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	37	c.674A>G	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.540312	0.45176	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.07444	3.19;3.19	3.86	2.69	0.31865	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09598	0.0236	L	0.50993	1.605	0.09310	N	1	B	0.30563	0.285	B	0.31016	0.123	T	0.22243	-1.0222	9	0.87932	D	0	.	8.455	0.32893	0.8022:0.1978:0.0:0.0	.	225	Q15937	ZNF79_HUMAN	G	225;201	ENSP00000362446:E225G;ENSP00000438418:E201G	ENSP00000362446:E225G	E	+	2	0	ZNF79	129246474	0.001000	0.12720	0.012000	0.15200	0.847000	0.48162	1.434000	0.34958	0.527000	0.28560	0.533000	0.62120	GAA		0.488	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		34	114	0	0	0	1	0	34	114				
HRASLS5	117245	broad.mit.edu	37	11	63230986	63230986	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:63230986T>C	ENST00000301790.4	-	6	988	c.829A>G	c.(829-831)Ata>Gta	p.I277V	HRASLS5_ENST00000539221.1_3'UTR|HRASLS5_ENST00000540857.1_Missense_Mutation_p.I267V			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	277							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CAGGCAGTTATTGGTTTGGGC	0.483																																						ENST00000540857.1																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(799-801)Ata>Gta		HRAS-like suppressor family, member 5							225.0	202.0	210.0					11																	63230986		2201	4298	6499	SO:0001583	missense	117245							g.chr11:63230986T>C	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.829A>G	11.37:g.63230986T>C	ENSP00000301790:p.Ile277Val					HRASLS5_ENST00000301790.4_Missense_Mutation_p.I277V|HRASLS5_ENST00000539221.1_3'UTR	p.I267V	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN			6	931	-			277					B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	c.799A>G	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.580576	0.00879	.	.	ENSG00000168004	ENST00000540857;ENST00000301790	T;T	0.30182	1.54;1.55	4.13	-1.8	0.07907	.	1.493610	0.03684	N	0.245984	T	0.11153	0.0272	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19647	-1.0299	10	0.06757	T	0.87	-0.1319	4.1374	0.10178	0.0:0.3491:0.3334:0.3175	.	267;277	F5H4Y9;Q96KN8	.;HRSL5_HUMAN	V	267;277	ENSP00000444809:I267V;ENSP00000301790:I277V	ENSP00000301790:I277V	I	-	1	0	HRASLS5	62987562	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-1.601000	0.02081	-0.237000	0.09739	-1.601000	0.00813	ATA		0.483	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		56	158	0	0	0	1	0	56	158				
PRKAA1	5562	broad.mit.edu	37	5	40765238	40765238	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:40765238A>G	ENST00000397128.2	-	7	932	c.924T>C	c.(922-924)tgT>tgC	p.C308C	PRKAA1_ENST00000354209.3_Silent_p.C323C	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	308	AIS.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	CAAACTTTTCACATACTTCTT	0.378																																						ENST00000397128.2																			0				breast(1)	1						c.(922-924)tgT>tgC		protein kinase, AMP-activated, alpha 1 catalytic subunit	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)						149.0	137.0	141.0					5																	40765238		1852	4098	5950	SO:0001819	synonymous_variant	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40765238A>G		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.924T>C	5.37:g.40765238A>G						PRKAA1_ENST00000354209.3_Silent_p.C323C	p.C308C	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN			7	932	-			308					A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Silent	SNP	ENST00000397128.2	37	c.924T>C	CCDS3932.2																																																																																				0.378	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251		13	133	0	0	0	1	0	13	133				
TRPS1	7227	broad.mit.edu	37	8	116617163	116617163	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:116617163A>G	ENST00000220888.5	-	3	1153	c.994T>C	c.(994-996)Tat>Cat	p.Y332H	TRPS1_ENST00000395715.3_Missense_Mutation_p.Y345H|TRPS1_ENST00000520276.1_Missense_Mutation_p.Y336H|TRPS1_ENST00000519674.1_Missense_Mutation_p.Y332H|TRPS1_ENST00000519076.1_Missense_Mutation_p.Y286H			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	332					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CAGCGGAAATACTTGGTGTTC	0.408									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(1033-1035)Tat>Cat		trichorhinophalangeal syndrome I							94.0	92.0	93.0					8																	116617163		1895	4109	6004	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116617163A>G	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.994T>C	8.37:g.116617163A>G	ENSP00000220888:p.Tyr332His					TRPS1_ENST00000519076.1_Missense_Mutation_p.Y286H|TRPS1_ENST00000520276.1_Missense_Mutation_p.Y336H|TRPS1_ENST00000519674.1_Missense_Mutation_p.Y332H|TRPS1_ENST00000220888.5_Missense_Mutation_p.Y332H	p.Y345H	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	1610	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		332					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.1033T>C		.	.	.	.	.	.	.	.	.	.	A	19.82	3.898409	0.72639	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	N	0.24115	0.695	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.05386	-1.0888	10	0.49607	T	0.09	.	16.2484	0.82467	1.0:0.0:0.0:0.0	.	336;332;345	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	H	345;332;286;336;332	ENSP00000379065:Y345H;ENSP00000220888:Y332H;ENSP00000428910:Y286H;ENSP00000428680:Y336H;ENSP00000429174:Y332H	ENSP00000220888:Y332H	Y	-	1	0	TRPS1	116686338	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.287000	0.95975	2.291000	0.77112	0.533000	0.62120	TAT		0.408	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		35	110	0	0	0	1	0	35	110				
CLCNKB	1188	broad.mit.edu	37	1	16378219	16378219	+	Missense_Mutation	SNP	C	C	T	rs121909133		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:16378219C>T	ENST00000375679.4	+	14	1423	c.1312C>T	c.(1312-1314)Cgc>Tgc	p.R438C	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R269C	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	438			R -> C (in BS3). {ECO:0000269|PubMed:9326936}.		excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.R438C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTATCGGGCGCCTCTTTGG	0.617																																						ENST00000375679.4																			1	Substitution - Missense(1)	p.R438C(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21	GRCh37	CM970324	CLCNKB	M	rs121909133	c.(1312-1314)Cgc>Tgc		chloride channel, voltage-sensitive Kb							89.0	91.0	90.0					1																	16378219		2203	4300	6503	SO:0001583	missense	1188							g.chr1:16378219C>T	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1312C>T	1.37:g.16378219C>T	ENSP00000364831:p.Arg438Cys					CLCNKB_ENST00000375667.3_Missense_Mutation_p.R269C	p.R438C	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	14	1423	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.1312C>T	CCDS168.1	.	.	.	.	.	.	.	.	.	.	c	17.58	3.423818	0.62733	.	.	ENSG00000184908	ENST00000375679;ENST00000331579;ENST00000375667	D;D	0.95205	-3.64;-3.64	4.05	4.05	0.47172	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97776	0.9270	H	0.96048	3.76	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99917	1.1229	9	0.87932	D	0	.	9.5113	0.39078	0.211:0.789:0.0:0.0	.	269;438	Q5T5Q7;P51801	.;CLCKB_HUMAN	C	438;310;269	ENSP00000364831:R438C;ENSP00000364819:R269C	ENSP00000332055:R310C	R	+	1	0	CLCNKB	16250806	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.606000	0.54095	1.964000	0.57103	0.455000	0.32223	CGC		0.617	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		44	159	0	0	0	1	0	44	159				
MYT1L	23040	broad.mit.edu	37	2	1796224	1796224	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:1796224C>A	ENST00000399161.2	-	24	4036	c.3289G>T	c.(3289-3291)Gag>Tag	p.E1097*	MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E1095*|MYT1L_ENST00000407844.1_Nonsense_Mutation_p.E95*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1097					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGGTTGCTCTCCATCGTGGTA	0.562																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(3289-3291)Gag>Tag		myelin transcription factor 1-like							113.0	112.0	113.0					2																	1796224		2072	4220	6292	SO:0001587	stop_gained	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1796224C>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3289G>T	2.37:g.1796224C>A	ENSP00000382114:p.Glu1097*					MYT1L_ENST00000428368.2_Nonsense_Mutation_p.E1095*|MYT1L_ENST00000407844.1_Nonsense_Mutation_p.E95*	p.E1097*	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	24	4036	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	1097					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Nonsense_Mutation	SNP	ENST00000399161.2	37	c.3289G>T		.	.	.	.	.	.	.	.	.	.	C	48	14.687878	0.99806	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	.	.	.	5.5	5.5	0.81552	.	0.045207	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-43.4909	19.3812	0.94536	0.0:1.0:0.0:0.0	.	.	.	.	X	1097;1043;95;151;1095	.	ENSP00000295067:E1043X	E	-	1	0	MYT1L	1775231	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.749000	0.85096	2.572000	0.86782	0.655000	0.94253	GAG		0.562	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		5	51	1	0	0.0381472	1	0.0383256	5	51				
TMPRSS11B	132724	broad.mit.edu	37	4	69107494	69107494	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:69107494G>A	ENST00000332644.5	-	2	198	c.37C>T	c.(37-39)Cca>Tca	p.P13S		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	13						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GTCCATAGTGGCCAAGATCTT	0.403																																						ENST00000332644.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						c.(37-39)Cca>Tca		transmembrane protease, serine 11B							76.0	75.0	76.0					4																	69107494		2203	4300	6503	SO:0001583	missense	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69107494G>A	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.37C>T	4.37:g.69107494G>A	ENSP00000330475:p.Pro13Ser						p.P13S	NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN			2	198	-			13					A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	c.37C>T	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.698894	0.48307	.	.	ENSG00000185873	ENST00000332644	D	0.87966	-2.32	5.19	3.43	0.39272	.	0.000000	0.40640	N	0.001058	D	0.88562	0.6470	L	0.45228	1.405	0.24081	N	0.995946	D	0.89917	1.0	D	0.83275	0.996	T	0.78497	-0.2181	10	0.36615	T	0.2	.	7.2941	0.26383	0.2085:0.0:0.7915:0.0	.	13	Q86T26	TM11B_HUMAN	S	13	ENSP00000330475:P13S	ENSP00000330475:P13S	P	-	1	0	TMPRSS11B	68790089	0.861000	0.29849	0.328000	0.25416	0.098000	0.18820	1.881000	0.39638	0.546000	0.28920	0.591000	0.81541	CCA		0.403	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		8	44	0	0	0	1	0	8	44				
MAP3K6	9064	broad.mit.edu	37	1	27687448	27687448	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:27687448G>A	ENST00000493901.1	-	15	2123	c.1884C>T	c.(1882-1884)ccC>ccT	p.P628P	MAP3K6_ENST00000374040.3_Silent_p.P620P|MAP3K6_ENST00000357582.2_Silent_p.P628P	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	628					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCTCCTCCGCGGGCGCCGTGG	0.721																																						ENST00000493901.1																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(1882-1884)ccC>ccT		mitogen-activated protein kinase kinase kinase 6							10.0	14.0	13.0					1																	27687448		2104	4235	6339	SO:0001819	synonymous_variant	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27687448G>A	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.1884C>T	1.37:g.27687448G>A						MAP3K6_ENST00000374040.3_Silent_p.P620P|MAP3K6_ENST00000357582.2_Silent_p.P628P	p.P628P	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	15	2123	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	628					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Silent	SNP	ENST00000493901.1	37	c.1884C>T	CCDS299.1	.	.	.	.	.	.	.	.	.	.	G	2.112	-0.403456	0.04832	.	.	ENSG00000142733	ENST00000472410	T	0.67865	-0.29	4.67	0.348	0.16026	.	.	.	.	.	T	0.48607	0.1509	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.35400	-0.9790	6	0.27082	T	0.32	.	2.7455	0.05265	0.3427:0.0:0.4516:0.2057	.	.	.	.	L	352	ENSP00000418731:P352L	ENSP00000418731:P352L	P	-	2	0	MAP3K6	27560035	0.000000	0.05858	0.007000	0.13788	0.149000	0.21700	-0.025000	0.12413	0.204000	0.20548	0.655000	0.94253	CCG		0.721	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		16	29	0	0	0	1	0	16	29				
MMP1	4312	broad.mit.edu	37	11	102661201	102661201	+	Missense_Mutation	SNP	G	G	A	rs146623880		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:102661201G>A	ENST00000315274.6	-	10	1419	c.1352C>T	c.(1351-1353)aCg>aTg	p.T451M	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	451					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	AATTCTCTTCGTTTTAGGATC	0.318													G|||	1	0.000199681	0.0	0.0	5008	,	,		19206	0.001		0.0	False		,,,				2504	0.0					ENST00000315274.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(1351-1353)aCg>aTg		matrix metallopeptidase 1 (interstitial collagenase)		G	MET/THR,MET/THR	0,4404		0,0,2202	117.0	111.0	113.0		1154,1352	3.0	0.0	11	dbSNP_134	113	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	MMP1	NM_001145938.1,NM_002421.3	81,81	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	385/404,451/470	102661201	1,12999	2202	4298	6500	SO:0001583	missense	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102661201G>A	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.1352C>T	11.37:g.102661201G>A	ENSP00000322788:p.Thr451Met					WTAPP1_ENST00000525739.2_RNA	p.T451M	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	10	1419	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	451			Hemopexin-like 4.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.1352C>T	CCDS8322.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	15.21	2.764780	0.49574	0.0	1.16E-4	ENSG00000196611	ENST00000315274	T	0.02067	4.47	6.02	2.95	0.34219	Hemopexin/matrixin (2);	0.483083	0.21049	N	0.081021	T	0.02342	0.0072	M	0.64170	1.965	0.09310	N	1	P	0.45240	0.854	B	0.33392	0.163	T	0.48031	-0.9070	10	0.72032	D	0.01	.	4.2387	0.10638	0.0766:0.1194:0.352:0.452	.	451	P03956	MMP1_HUMAN	M	451	ENSP00000322788:T451M	ENSP00000322788:T451M	T	-	2	0	MMP1	102166411	0.000000	0.05858	0.040000	0.18447	0.853000	0.48598	-0.008000	0.12788	0.848000	0.35191	0.655000	0.94253	ACG		0.318	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		6	24	0	0	0	1	0	6	24				
RFX4	5992	broad.mit.edu	37	12	107155092	107155092	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:107155092T>C	ENST00000392842.1	+	18	2467	c.2053T>C	c.(2053-2055)Tac>Cac	p.Y685H	RFX4_ENST00000357881.4_Missense_Mutation_p.Y694H|RFX4_ENST00000229387.5_Missense_Mutation_p.Y591H|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	685					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CAACACGTGCTACACAAGCCC	0.537																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(2053-2055)Tac>Cac		regulatory factor X, 4 (influences HLA class II expression)							116.0	106.0	110.0					12																	107155092		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107155092T>C	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.2053T>C	12.37:g.107155092T>C	ENSP00000376585:p.Tyr685His					RFX4_ENST00000229387.5_Missense_Mutation_p.Y591H|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.Y694H	p.Y685H	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			18	2467	+			685					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.2053T>C	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.930697	0.73327	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000229387	T;T;T	0.51574	0.7;0.7;0.7	5.55	5.55	0.83447	.	0.058760	0.64402	D	0.000001	T	0.50377	0.1612	N	0.24115	0.695	0.58432	D	0.999996	D;D;P	0.60575	0.988;0.969;0.948	P;P;B	0.56700	0.804;0.735;0.446	T	0.56098	-0.8035	10	0.87932	D	0	-19.3645	15.692	0.77461	0.0:0.0:0.0:1.0	.	591;694;685	B2RDW4;Q33E94-2;Q33E94	.;.;RFX4_HUMAN	H	685;694;591	ENSP00000376585:Y685H;ENSP00000350552:Y694H;ENSP00000229387:Y591H	ENSP00000229387:Y591H	Y	+	1	0	RFX4	105679222	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.665000	0.83852	2.104000	0.64026	0.533000	0.62120	TAC		0.537	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		4	205	0	0	0	1	0	4	205				
RERE	473	broad.mit.edu	37	1	8420636	8420636	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:8420636T>C	ENST00000337907.3	-	19	3565	c.2931A>G	c.(2929-2931)acA>acG	p.T977T	RERE_ENST00000377464.1_Silent_p.T709T|RERE_ENST00000476556.1_Silent_p.T423T|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Silent_p.T977T	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	977	Pro-rich.			T -> K (in Ref. 2; no nucleotide entry). {ECO:0000305}.	chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGGGTGATGTGTGGACAGGG	0.697																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2929-2931)acA>acG		arginine-glutamic acid dipeptide (RE) repeats																																				SO:0001819	synonymous_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8420636T>C	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2931A>G	1.37:g.8420636T>C						RERE_ENST00000400908.2_Silent_p.T977T|RERE_ENST00000476556.1_Silent_p.T423T|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Silent_p.T709T	p.T977T	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	19	3565	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	977	T -> K (in Ref. 2; no nucleotide entry).		Pro-rich.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	c.2931A>G	CCDS95.1																																																																																				0.697	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			9	41	0	0	0	1	0	9	41				
GDF10	2662	broad.mit.edu	37	10	48428793	48428793	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:48428793C>T	ENST00000224605.2	-	2	1358	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	365					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TTCCTCCGGGCTTTCTGCATC	0.597																																						ENST00000224605.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(1093-1095)Gcc>Acc		growth differentiation factor 10							96.0	81.0	86.0					10																	48428793		2203	4300	6503	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48428793C>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1093G>A	10.37:g.48428793C>T	ENSP00000224605:p.Ala365Thr						p.A365T	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			2	1358	-			365					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.1093G>A	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271837	0.80469	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.78126	-1.15	5.43	4.53	0.55603	.	0.100091	0.64402	D	0.000002	D	0.87692	0.6241	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.88757	0.3254	10	0.56958	D	0.05	.	13.7514	0.62910	0.0:0.9257:0.0:0.0743	.	175;365	Q8N6T2;P55107	.;BMP3B_HUMAN	T	175;365	ENSP00000224605:A365T	ENSP00000224605:A365T	A	-	1	0	GDF10	48048799	1.000000	0.71417	0.999000	0.59377	0.586000	0.36452	7.689000	0.84165	1.441000	0.47550	-0.150000	0.13652	GCC		0.597	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		25	66	0	0	0	1	0	25	66				
ZBTB40	9923	broad.mit.edu	37	1	22838593	22838593	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:22838593T>C	ENST00000375647.4	+	11	2634	c.2427T>C	c.(2425-2427)tgT>tgC	p.C809C	ZBTB40_ENST00000404138.1_Silent_p.C809C|ZBTB40_ENST00000374651.4_Silent_p.C697C	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	809					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CAGTGACATGTGACCTCTGTG	0.498																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2425-2427)tgT>tgC		zinc finger and BTB domain containing 40							53.0	56.0	55.0					1																	22838593		2203	4300	6503	SO:0001819	synonymous_variant	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838593T>C	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2427T>C	1.37:g.22838593T>C						ZBTB40_ENST00000375647.4_Silent_p.C809C|ZBTB40_ENST00000374651.4_Silent_p.C697C	p.C809C	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2938	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	809					O75066|Q5TFU5|Q8N1R1	Silent	SNP	ENST00000375647.4	37	c.2427T>C	CCDS224.1																																																																																				0.498	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		19	68	0	0	0	1	0	19	68				
SLC43A2	124935	broad.mit.edu	37	17	1486572	1486572	+	Missense_Mutation	SNP	G	G	A	rs370279486		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:1486572G>A	ENST00000301335.5	-	11	1364	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	SLC43A2_ENST00000412517.3_Missense_Mutation_p.R289W|SLC43A2_ENST00000571650.1_Missense_Mutation_p.R430W|SLC43A2_ENST00000382147.4_Missense_Mutation_p.R430W	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	426					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GCGAAGGCCCGCATGGCATTA	0.622																																						ENST00000571650.1																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(1288-1290)Cgg>Tgg		solute carrier family 43 (amino acid system L transporter), member 2		G	TRP/ARG	0,4406		0,0,2203	117.0	114.0	115.0		1276	2.1	1.0	17		115	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC43A2	NM_152346.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	426/570	1486572	1,13005	2203	4300	6503	SO:0001583	missense	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1486572G>A	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.1276C>T	17.37:g.1486572G>A	ENSP00000301335:p.Arg426Trp					SLC43A2_ENST00000301335.4_Missense_Mutation_p.R426W|SLC43A2_ENST00000412517.3_Missense_Mutation_p.R289W|SLC43A2_ENST00000382147.4_Missense_Mutation_p.R430W	p.R430W			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	12	1594	-			426					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	ENST00000301335.5	37	c.1288C>T	CCDS11006.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759367	0.69763	0.0	1.16E-4	ENSG00000167703	ENST00000301335;ENST00000382147;ENST00000412517	T;T;T	0.80653	-1.4;-1.4;-1.4	5.67	2.1	0.27182	Major facilitator superfamily domain, general substrate transporter (1);	0.090217	0.64402	D	0.000001	D	0.86981	0.6064	M	0.79475	2.455	0.42620	D	0.993346	D;D	0.71674	0.998;0.997	P;P	0.61397	0.776;0.888	D	0.87023	0.2130	10	0.38643	T	0.18	-16.5663	14.5918	0.68371	0.0:0.0:0.474:0.526	.	426;430	Q8N370;Q8N370-3	LAT4_HUMAN;.	W	426;430;289	ENSP00000301335:R426W;ENSP00000371582:R430W;ENSP00000408284:R289W	ENSP00000301335:R426W	R	-	1	2	SLC43A2	1433322	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	1.482000	0.35486	0.845000	0.35118	-0.122000	0.15005	CGG		0.622	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		47	98	0	0	0	1	0	47	98				
PTCD1	26024	broad.mit.edu	37	7	99023173	99023173	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:99023173C>T	ENST00000292478.4	-	6	1232	c.982G>A	c.(982-984)Gca>Aca	p.A328T	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.A377T|PTCD1_ENST00000555673.1_Missense_Mutation_p.A377T	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	328					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCGAGCTGCCACCAACAGC	0.642																																						ENST00000292478.4																			0				endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(982-984)Gca>Aca		pentatricopeptide repeat domain 1							20.0	21.0	21.0					7																	99023173		2201	4297	6498	SO:0001583	missense	26024							g.chr7:99023173C>T	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.982G>A	7.37:g.99023173C>T	ENSP00000292478:p.Ala328Thr					ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.A377T|PTCD1_ENST00000555673.1_Missense_Mutation_p.A377T	p.A328T	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		6	1232	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)							Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	c.982G>A	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415587	0.62511	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	T;T;T	0.72051	-0.62;-0.58;-0.58	5.84	5.84	0.93424	.	0.046442	0.85682	D	0.000000	T	0.78298	0.4261	M	0.74647	2.275	0.80722	D	1	D;P	0.52996	0.957;0.849	P;B	0.48166	0.569;0.387	T	0.79778	-0.1660	10	0.54805	T	0.06	-12.8305	20.1278	0.97990	0.0:1.0:0.0:0.0	.	377;328	G3V325;O75127	.;PTCD1_HUMAN	T	328;110;377;377	ENSP00000292478:A328T;ENSP00000450995:A377T;ENSP00000400168:A377T	ENSP00000400168:A377T	A	-	1	0	ATP5J2-PTCD1;PTCD1	98861109	1.000000	0.71417	0.968000	0.41197	0.248000	0.25809	5.933000	0.70130	2.768000	0.95171	0.561000	0.74099	GCA		0.642	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		14	33	0	0	0	1	0	14	33				
OR2T10	127069	broad.mit.edu	37	1	248756211	248756211	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:248756211G>A	ENST00000330500.2	-	1	889	c.859C>T	c.(859-861)Cct>Tct	p.P287S	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAAATGATAGGATTCAAGACA	0.388																																						ENST00000330500.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26						c.(859-861)Cct>Tct		olfactory receptor, family 2, subfamily T, member 10							50.0	59.0	56.0					1																	248756211		2041	4235	6276	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756211G>A		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.859C>T	1.37:g.248756211G>A	ENSP00000329210:p.Pro287Ser						p.P287S	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	889	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		287					B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.859C>T	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	11.62	1.692173	0.30052	.	.	ENSG00000184022	ENST00000330500	T	0.63417	-0.04	2.35	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.84593	0.5506	H	0.97265	3.97	0.30750	N	0.745212	D	0.76494	0.999	D	0.74348	0.983	D	0.83454	0.0050	9	0.87932	D	0	.	11.4637	0.50225	0.0:0.0:1.0:0.0	.	287	Q8NGZ9	O2T10_HUMAN	S	287	ENSP00000329210:P287S	ENSP00000329210:P287S	P	-	1	0	OR2T10	246822834	1.000000	0.71417	0.008000	0.14137	0.003000	0.03518	7.189000	0.77747	1.123000	0.41961	0.447000	0.29281	CCT		0.388	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		13	43	0	0	0	1	0	13	43				
KIAA1033	23325	broad.mit.edu	37	12	105534990	105534990	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:105534990A>G	ENST00000332180.5	+	18	1840	c.1753A>G	c.(1753-1755)Aaa>Gaa	p.K585E		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AGTAGTCATGAAAAAACTGGA	0.373																																						ENST00000332180.5																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(1753-1755)Aaa>Gaa		KIAA1033							133.0	132.0	133.0					12																	105534990		1843	4089	5932	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105534990A>G	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.1753A>G	12.37:g.105534990A>G	ENSP00000328062:p.Lys585Glu						p.K585E	NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN			18	1840	+			585						Missense_Mutation	SNP	ENST00000332180.5	37	c.1753A>G	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.659850	0.67586	.	.	ENSG00000136051	ENST00000332180	T	0.31510	1.49	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	L	0.61218	1.895	0.80722	D	1	B;B	0.17038	0.02;0.02	B;B	0.15484	0.013;0.013	T	0.07290	-1.0780	10	0.27785	T	0.31	.	15.9573	0.79896	1.0:0.0:0.0:0.0	.	586;585	B7ZKT9;Q2M389	.;WASH7_HUMAN	E	585	ENSP00000328062:K585E	ENSP00000328062:K585E	K	+	1	0	KIAA1033	104059120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.330000	0.96422	2.156000	0.67533	0.528000	0.53228	AAA		0.373	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		7	134	0	0	0	1	0	7	134				
IL11RA	3590	broad.mit.edu	37	9	34660857	34660857	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:34660857G>A	ENST00000555003.1	+	12	2532	c.1176G>A	c.(1174-1176)agG>agA	p.R392R	IL11RA_ENST00000318041.9_Silent_p.R392R|RP11-195F19.30_ENST00000564224.1_RNA|IL11RA_ENST00000441545.2_Silent_p.R392R|CCL27_ENST00000557161.1_5'Flank			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	392					developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CCAGGCTGAGGCTGAGACGGG	0.532																																						ENST00000555003.1																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(1174-1176)agG>agA		interleukin 11 receptor, alpha	Oprelvekin(DB00038)						168.0	175.0	173.0					9																	34660857		2203	4300	6503	SO:0001819	synonymous_variant	3590					integral to plasma membrane	cytokine receptor activity	g.chr9:34660857G>A	Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.1176G>A	9.37:g.34660857G>A						IL11RA_ENST00000441545.2_Silent_p.R392R|IL11RA_ENST00000318041.9_Silent_p.R392R	p.R392R			Q14626	I11RA_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	12	2532	+	all_epithelial(49;0.102)		392					Q16542|Q5VZ80|Q7KYJ7	Silent	SNP	ENST00000555003.1	37	c.1176G>A	CCDS6567.1																																																																																				0.532	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784		68	281	0	0	0	1	0	68	281				
NDUFAF5	79133	broad.mit.edu	37	20	13782163	13782163	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:13782163T>C	ENST00000378106.5	+	7	670	c.551T>C	c.(550-552)tTt>tCt	p.F184S	NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Missense_Mutation_p.F156S	NM_024120.4	NP_077025.2	Q5TEU4	NDUF5_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	184					mitochondrial respiratory chain complex I assembly (GO:0032981)	extrinsic component of mitochondrial inner membrane (GO:0031314)	methyltransferase activity (GO:0008168)										GATGGAGTGTTTATCGGTGCA	0.308																																						ENST00000378106.5																			0											c.(550-552)tTt>tCt		NADH dehydrogenase (ubiquinone) complex I, assembly factor 5							63.0	58.0	60.0					20																	13782163		2203	4300	6503	SO:0001583	missense	79133				mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity	g.chr20:13782163T>C		CCDS13118.1, CCDS33441.1	20p12.1	2012-10-12	2012-05-08	2012-05-08	ENSG00000101247	ENSG00000101247		"""Mitochondrial respiratory chain complex assembly factors"""	15899	protein-coding gene	gene with protein product		612360	"""chromosome 20 open reading frame 7"""	C20orf7		18940309, 21607760	Standard	NM_024120		Approved	dJ842G6.1	uc002wom.3	Q5TEU4	OTTHUMG00000031909	ENST00000378106.5:c.551T>C	20.37:g.13782163T>C	ENSP00000367346:p.Phe184Ser					NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Missense_Mutation_p.F156S	p.F184S	NM_024120.4	NP_077025.2	Q5TEU4	CT007_HUMAN			7	670	+			184					A8K166|Q6GPH3|Q9H6F4	Missense_Mutation	SNP	ENST00000378106.5	37	c.551T>C	CCDS13118.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.582541	0.86748	.	.	ENSG00000101247	ENST00000378106;ENST00000536501;ENST00000463598	T;T	0.76316	-1.01;-1.01	5.47	5.47	0.80525	Methyltransferase type 11 (1);	0.000000	0.85682	D	0.000000	D	0.93074	0.7795	H	0.98951	4.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.95808	0.8839	10	0.87932	D	0	-17.8986	15.5763	0.76392	0.0:0.0:0.0:1.0	.	156;184	Q5TEU4-2;Q5TEU4	.;CT007_HUMAN	S	184;184;156	ENSP00000367346:F184S;ENSP00000420497:F156S	ENSP00000437325:F184S	F	+	2	0	C20orf7	13730163	1.000000	0.71417	0.981000	0.43875	0.989000	0.77384	7.434000	0.80377	2.080000	0.62538	0.528000	0.53228	TTT		0.308	NDUFAF5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078057.2	NM_001039375		5	36	0	0	0	1	0	5	36				
MAGEL2	54551	broad.mit.edu	37	15	23890792	23890792	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:23890792G>A	ENST00000532292.1	-	1	383	c.289C>T	c.(289-291)Ccg>Tcg	p.P97S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GCTGCTACCGGGGGTCCGGGC	0.637																																						ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(289-291)Ccg>Tcg		MAGE-like 2							10.0	11.0	11.0					15																	23890792		1851	4078	5929	SO:0001583	missense	54551							g.chr15:23890792G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.289C>T	15.37:g.23890792G>A	ENSP00000433433:p.Pro97Ser						p.P97S	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	383	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.289C>T																																																																																					0.637	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		4	14	0	0	0	1	0	4	14				
CASC1	55259	broad.mit.edu	37	12	25260900	25260900	+	IGR	SNP	C	C	T	rs116094067		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:25260900C>T	ENST00000320267.9	-	0	2361				LRMP_ENST00000354454.3_Missense_Mutation_p.A469V|LRMP_ENST00000547044.1_Missense_Mutation_p.A469V|LRMP_ENST00000548766.1_Missense_Mutation_p.A469V	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1											breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCTGTGGATGCCGCTCCCACA	0.498																																						ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1405-1407)gCc>gTc		lymphoid-restricted membrane protein							118.0	112.0	114.0					12																	25260900		2203	4300	6503	SO:0001628	intergenic_variant	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25260900C>T	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195		12.37:g.25260900C>T						LRMP_ENST00000548766.1_Missense_Mutation_p.A469V|LRMP_ENST00000547044.1_Missense_Mutation_p.A469V	p.A469V	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN			21	2235	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		525					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1406C>T	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908876	0.72868	.	.	ENSG00000118308	ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	5.53	4.63	0.57726	.	0.130731	0.50627	D	0.000120	T	0.40067	0.1102	M	0.71581	2.175	0.48632	D	0.99968	D	0.76494	0.999	D	0.72982	0.979	T	0.27157	-1.0082	10	0.59425	D	0.04	-14.0401	13.5703	0.61843	0.0:0.7021:0.2979:0.0	.	525	Q12912	LRMP_HUMAN	V	469;416;469;469	ENSP00000346442:A469V;ENSP00000444056:A416V;ENSP00000446496:A469V;ENSP00000450246:A469V	ENSP00000346442:A469V	A	+	2	0	LRMP	25152167	0.999000	0.42202	0.235000	0.24058	0.633000	0.38033	4.579000	0.60936	1.298000	0.44778	0.557000	0.71058	GCC		0.498	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		5	152	0	0	0	1	0	5	152				
IPO4	79711	broad.mit.edu	37	14	24656326	24656326	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:24656326T>A	ENST00000354464.6	-	7	795	c.619A>T	c.(619-621)Atc>Ttc	p.I207F	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	207					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		ATGGCCATGATCAGCTTGGGC	0.572																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(619-621)Atc>Ttc		importin 4							238.0	246.0	243.0					14																	24656326		2190	4283	6473	SO:0001583	missense	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24656326T>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.619A>T	14.37:g.24656326T>A	ENSP00000346453:p.Ile207Phe					RP11-468E2.2_ENST00000561419.1_3'UTR	p.I207F	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	7	795	-			207					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.619A>T	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.703274	0.48412	.	.	ENSG00000196497	ENST00000354464	T	0.04654	3.58	5.1	1.29	0.21616	Armadillo-like helical (1);Armadillo-type fold (1);	0.266851	0.35772	N	0.002986	T	0.07143	0.0181	L	0.34521	1.04	0.40083	D	0.97615	P	0.38370	0.628	P	0.50537	0.643	T	0.37079	-0.9721	10	0.51188	T	0.08	-6.6703	6.4745	0.22028	0.0:0.092:0.4962:0.4118	.	207	Q8TEX9	IPO4_HUMAN	F	207	ENSP00000346453:I207F	ENSP00000346453:I207F	I	-	1	0	IPO4	23726166	0.997000	0.39634	0.724000	0.30704	0.459000	0.32528	0.929000	0.28844	0.062000	0.16340	0.460000	0.39030	ATC		0.572	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		34	377	0	0	0	1	0	34	377				
RBM33	155435	broad.mit.edu	37	7	155534609	155534609	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:155534609T>A	ENST00000401878.3	+	13	2344	c.2146T>A	c.(2146-2148)Tca>Aca	p.S716T		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	716							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CATAGCGCCGTCACACGTGAT	0.567																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(2146-2148)Tca>Aca		RNA binding motif protein 33							96.0	95.0	95.0					7																	155534609		2203	4300	6503	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155534609T>A	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2146T>A	7.37:g.155534609T>A	ENSP00000384160:p.Ser716Thr						p.S716T	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	13	2344	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	716					A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.2146T>A	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	T	11.73	1.724602	0.30593	.	.	ENSG00000184863	ENST00000401878	T	0.47869	0.83	5.88	-1.42	0.08913	.	0.355999	0.24461	N	0.038324	T	0.40448	0.1117	L	0.55481	1.735	0.24148	N	0.995704	B;P	0.50943	0.002;0.94	B;P	0.50659	0.007;0.647	T	0.44097	-0.9350	10	0.09843	T	0.71	.	5.5127	0.16890	0.1137:0.0645:0.4694:0.3523	.	433;716	B4DVQ2;Q96EV2	.;RBM33_HUMAN	T	716	ENSP00000384160:S716T	ENSP00000384160:S716T	S	+	1	0	RBM33	155227370	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.273000	0.08548	-0.129000	0.11620	0.482000	0.46254	TCA		0.567	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		48	136	0	0	0	1	0	48	136				
CASP8	841	broad.mit.edu	37	2	202149997	202149997	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:202149997T>C	ENST00000432109.2	+	9	1450	c.1261T>C	c.(1261-1263)Tac>Cac	p.Y421H	CASP8_ENST00000323492.7_Missense_Mutation_p.Y406H|CASP8_ENST00000358485.4_Missense_Mutation_p.Y480H|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.Y337H|CASP8_ENST00000264275.5_Missense_Mutation_p.Y438H|CASP8_ENST00000392266.3_3'UTR	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	421					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GGGAACCTGGTACATCCAGTC	0.527										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1438-1440)Tac>Cac		caspase 8, apoptosis-related cysteine peptidase							83.0	74.0	77.0					2																	202149997		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202149997T>C	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1261T>C	2.37:g.202149997T>C	ENSP00000412523:p.Tyr421His	HNSCC(4;0.00038)				CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000432109.2_Missense_Mutation_p.Y421H|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Missense_Mutation_p.Y406H|CASP8_ENST00000264275.5_Missense_Mutation_p.Y438H|CASP8_ENST00000264274.9_Missense_Mutation_p.Y337H	p.Y480H	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1634	+			421					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.1438T>C	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.587017	0.86851	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.64	5.64	0.86602	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	0.061274	0.64402	D	0.000002	D	0.93792	0.8015	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;0.999	D	0.95016	0.8156	10	0.87932	D	0	.	15.035	0.71738	0.0:0.0:0.0:1.0	.	337;480;421;406;438	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	H	406;337;421;438;480;406;200	ENSP00000376091:Y406H;ENSP00000264274:Y337H;ENSP00000412523:Y421H;ENSP00000264275:Y438H;ENSP00000351273:Y480H;ENSP00000325722:Y406H;ENSP00000394434:Y200H	ENSP00000264274:Y337H	Y	+	1	0	CASP8	201858242	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.845000	0.86875	2.145000	0.66743	0.459000	0.35465	TAC		0.527	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		14	75	0	0	0	1	0	14	75				
GPN3	51184	broad.mit.edu	37	12	110893704	110893704	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:110893704G>A	ENST00000228827.3	-	5	544	c.482C>T	c.(481-483)gCc>gTc	p.A161V	GPN3_ENST00000543199.1_Missense_Mutation_p.A200V|GPN3_ENST00000537466.2_Missense_Mutation_p.A171V	NM_016301.3	NP_057385.3			GPN-loop GTPase 3											endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						AGAGATCATGGCACTCAGGGC	0.413																																						ENST00000543199.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						c.(598-600)gCc>gTc		GPN-loop GTPase 3							102.0	91.0	95.0					12																	110893704		2203	4300	6503	SO:0001583	missense	51184					protein complex	GTP binding	g.chr12:110893704G>A	BC008416	CCDS9147.1, CCDS53830.1, CCDS53831.1	12q24.11	2012-12-18	2008-04-30	2008-04-30	ENSG00000111231	ENSG00000111231		"""GPN-loop GTPases"""	30186	protein-coding gene	gene with protein product			"""ATP binding domain 1 family, member C"""	ATPBD1C		12975309	Standard	NM_016301		Approved	MGC14560	uc021rdu.1	Q9UHW5	OTTHUMG00000169524	ENST00000228827.3:c.482C>T	12.37:g.110893704G>A	ENSP00000228827:p.Ala161Val					GPN3_ENST00000228827.3_Missense_Mutation_p.A161V|GPN3_ENST00000537466.2_Missense_Mutation_p.A171V	p.A200V	NM_001164372.1	NP_001157844.1	Q9UHW5	GPN3_HUMAN			5	683	-			161						Missense_Mutation	SNP	ENST00000228827.3	37	c.599C>T	CCDS9147.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309819	0.81247	.	.	ENSG00000111231	ENST00000228827;ENST00000543199;ENST00000537466;ENST00000551079;ENST00000550974	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	5.87	5.87	0.94306	.	0.045007	0.85682	D	0.000000	T	0.28101	0.0693	L	0.48877	1.53	0.80722	D	1	B;B	0.26483	0.073;0.15	B;B	0.34931	0.074;0.192	T	0.02214	-1.1194	10	0.37606	T	0.19	-2.2273	20.2087	0.98285	0.0:0.0:1.0:0.0	.	171;161	Q9UHW5-2;Q9UHW5	.;GPN3_HUMAN	V	161;200;171;11;139	ENSP00000228827:A161V;ENSP00000442770:A200V;ENSP00000443068:A171V;ENSP00000448159:A11V;ENSP00000447480:A139V	ENSP00000228827:A161V	A	-	2	0	GPN3	109378087	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.469000	0.97679	2.791000	0.96007	0.655000	0.94253	GCC		0.413	GPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404607.1	NM_016301		16	60	0	0	0	1	0	16	60				
H2BFM	286436	broad.mit.edu	37	X	103294917	103294917	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:103294917T>C	ENST00000355016.3	+	1	402	c.374T>C	c.(373-375)cTg>cCg	p.L125P	H2BFM_ENST00000243297.5_Missense_Mutation_p.L228P	NM_001164416.1	NP_001157888.1	P0C1H6	H2BFM_HUMAN	H2B histone family, member M	125						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(1)|ovary(1)	3						CGACTGCTGCTGCCGGGGAAG	0.637																																						ENST00000243297.5																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(682-684)cTg>cCg		H2B histone family, member M							7.0	8.0	8.0					X																	103294917		689	1576	2265	SO:0001583	missense	286436							g.chrX:103294917T>C	AK093522	CCDS55468.1	Xq22.2	2011-01-27			ENSG00000101812	ENSG00000101812		"""Histones / Replication-independent"""	27867	protein-coding gene	gene with protein product							Standard	NM_001164416		Approved		uc004els.2	P0C1H6	OTTHUMG00000022122	ENST00000355016.3:c.374T>C	X.37:g.103294917T>C	ENSP00000347119:p.Leu125Pro					H2BFM_ENST00000355016.3_Missense_Mutation_p.L125P	p.L228P							3	683	+								A6NP82	Missense_Mutation	SNP	ENST00000355016.3	37	c.683T>C	CCDS55468.1	.	.	.	.	.	.	.	.	.	.	.	16.42	3.118648	0.56505	.	.	ENSG00000101812	ENST00000243297;ENST00000355016;ENST00000417637	T;T;T	0.52983	0.64;0.64;0.64	2.66	2.66	0.31614	Histone-fold (2);	0.000000	0.31134	U	0.008186	T	0.48466	0.1501	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.50118	-0.8865	10	0.87932	D	0	.	8.3523	0.32310	0.0:0.0:0.0:1.0	.	228	P0C1H6	H2BFM_HUMAN	P	228;125;23	ENSP00000243297:L228P;ENSP00000347119:L125P;ENSP00000402466:L23P	ENSP00000243297:L228P	L	+	2	0	H2BFM	103181573	1.000000	0.71417	0.008000	0.14137	0.004000	0.04260	4.708000	0.61859	1.135000	0.42183	0.422000	0.28245	CTG		0.637	H2BFM-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057758.2	XM_210048		4	2	0	0	0	1	0	4	2				
PPIP5K2	23262	broad.mit.edu	37	5	102522033	102522033	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:102522033C>T	ENST00000358359.3	+	27	3691	c.3182C>T	c.(3181-3183)gCg>gTg	p.A1061V	PPIP5K2_ENST00000321521.9_Missense_Mutation_p.A1061V|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.A1061V|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1061					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCTCACTGTGCGGGCCTGTTT	0.488																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(3181-3183)gCg>gTg		diphosphoinositol pentakisphosphate kinase 2							108.0	100.0	102.0					5																	102522033		2203	4300	6503	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102522033C>T	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.3182C>T	5.37:g.102522033C>T	ENSP00000351126:p.Ala1061Val					PPIP5K2_ENST00000358359.3_Missense_Mutation_p.A1061V|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.A1061V	p.A1061V			O43314	VIP2_HUMAN			27	3755	+			1061					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.3182C>T		.	.	.	.	.	.	.	.	.	.	C	23.7	4.450518	0.84101	.	.	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.15256	2.44;2.44;2.44	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000005	T	0.22475	0.0542	L	0.55481	1.735	0.53688	D	0.999976	P;P	0.50528	0.936;0.894	B;B	0.42462	0.388;0.217	T	0.00972	-1.1495	10	0.29301	T	0.29	-6.8529	20.0795	0.97766	0.0:1.0:0.0:0.0	.	1061;1061	O43314-2;O43314	.;VIP2_HUMAN	V	1061;1061;1076;1061	ENSP00000313070:A1061V;ENSP00000351126:A1061V;ENSP00000416016:A1061V	ENSP00000313070:A1061V	A	+	2	0	PPIP5K2	102549932	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.070000	0.71220	2.747000	0.94245	0.650000	0.86243	GCG		0.488	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		25	45	0	0	0	1	0	25	45				
H2AFY2	55506	broad.mit.edu	37	10	71851566	71851566	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:71851566C>T	ENST00000373255.4	+	4	597	c.333C>T	c.(331-333)ccC>ccT	p.P111P		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	111	Histone H2A.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						GAATTCACCCCGAACTGCTGG	0.557																																						ENST00000373255.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						c.(331-333)ccC>ccT		H2A histone family, member Y2							80.0	67.0	72.0					10																	71851566		2203	4300	6503	SO:0001819	synonymous_variant	55506				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr10:71851566C>T	AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"""Histones / Replication-independent"""	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.333C>T	10.37:g.71851566C>T							p.P111P	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN			4	597	+			111			Histone H2A.		Q5SQT2	Silent	SNP	ENST00000373255.4	37	c.333C>T	CCDS7296.1																																																																																				0.557	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649		21	86	0	0	0	1	0	21	86				
SPATA31E1	286234	broad.mit.edu	37	9	90501484	90501484	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:90501484C>T	ENST00000325643.5	+	4	2148	c.2082C>T	c.(2080-2082)acC>acT	p.T694T		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	694					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGCAGAAGACCGGGTTCAGGA	0.612																																						ENST00000325643.5																			0											c.(2080-2082)acC>acT		SPATA31 subfamily E, member 1							54.0	69.0	64.0					9																	90501484		2203	4300	6503	SO:0001819	synonymous_variant	286234							g.chr9:90501484C>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2082C>T	9.37:g.90501484C>T							p.T694T	NM_178828.4	NP_849150.3					4	2148	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.2082C>T	CCDS6676.1																																																																																				0.612	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		35	83	0	0	0	1	0	35	83				
PRMT8	56341	broad.mit.edu	37	12	3702332	3702332	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:3702332A>G	ENST00000382622.3	+	10	1559	c.1169A>G	c.(1168-1170)gAc>gGc	p.D390G	PRMT8_ENST00000452611.2_Missense_Mutation_p.D381G|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	390	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GTATCTAATGACTACAAAATG	0.502																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(1168-1170)gAc>gGc		protein arginine methyltransferase 8							87.0	74.0	78.0					12																	3702332		2203	4300	6503	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3702332A>G	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.1169A>G	12.37:g.3702332A>G	ENSP00000372067:p.Asp390Gly					PRMT8_ENST00000452611.2_Missense_Mutation_p.D381G|PRMT8_ENST00000261252.4_3'UTR	p.D390G	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		10	1559	+			390					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.1169A>G	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	A	14.69	2.609518	0.46527	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.21734	1.99;1.99	5.37	5.37	0.77165	.	0.083005	0.85682	D	0.000000	T	0.22975	0.0555	M	0.63428	1.95	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.03807	-1.1002	10	0.22706	T	0.39	.	13.3191	0.60423	1.0:0.0:0.0:0.0	.	381;390	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	G	381;390	ENSP00000414507:D381G;ENSP00000372067:D390G	ENSP00000372067:D390G	D	+	2	0	PRMT8	3572593	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.211000	0.95120	2.042000	0.60477	0.260000	0.18958	GAC		0.502	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		20	24	0	0	0	1	0	20	24				
SLC9A9	285195	broad.mit.edu	37	3	143185939	143185939	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:143185939A>G	ENST00000316549.6	-	12	1617	c.1409T>C	c.(1408-1410)tTc>tCc	p.F470S		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	470					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GACAGTGAAGAACACGAGGAG	0.483																																						ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1408-1410)tTc>tCc		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							153.0	126.0	135.0					3																	143185939		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143185939A>G	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1409T>C	3.37:g.143185939A>G	ENSP00000320246:p.Phe470Ser						p.F470S	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN			12	1617	-			470					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1409T>C	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.950116	0.92660	.	.	ENSG00000181804	ENST00000316549	T	0.15952	2.38	5.71	5.71	0.89125	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	M	0.90542	3.125	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.61372	-0.7076	10	0.87932	D	0	.	15.9958	0.80243	1.0:0.0:0.0:0.0	.	470	Q8IVB4	SL9A9_HUMAN	S	470	ENSP00000320246:F470S	ENSP00000320246:F470S	F	-	2	0	SLC9A9	144668629	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.929000	0.92859	2.188000	0.69820	0.533000	0.62120	TTC		0.483	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		8	41	0	0	0	1	0	8	41				
TRAP1	10131	broad.mit.edu	37	16	3712055	3712055	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3712055G>A	ENST00000246957.5	-	16	1961	c.1873C>T	c.(1873-1875)Cag>Tag	p.Q625*	TRAP1_ENST00000575671.1_Nonsense_Mutation_p.Q416*|DNASE1_ENST00000575152.1_3'UTR|TRAP1_ENST00000538171.1_Nonsense_Mutation_p.Q572*|DNASE1_ENST00000414110.2_Intron	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	625					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GCCAGCTGCTGCATGCGCAGG	0.672																																						ENST00000575671.1																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1246-1248)Cag>Tag		TNF receptor-associated protein 1							37.0	35.0	36.0					16																	3712055		2197	4300	6497	SO:0001587	stop_gained	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3712055G>A	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.1873C>T	16.37:g.3712055G>A	ENSP00000246957:p.Gln625*					DNASE1_ENST00000575152.1_3'UTR|DNASE1_ENST00000414110.2_Intron|TRAP1_ENST00000246957.5_Nonsense_Mutation_p.Q625*|TRAP1_ENST00000538171.1_Nonsense_Mutation_p.Q572*	p.Q416*			Q12931	TRAP1_HUMAN			11	1975	-		Ovarian(90;0.0261)	625					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Nonsense_Mutation	SNP	ENST00000246957.5	37	c.1246C>T	CCDS10508.1	.	.	.	.	.	.	.	.	.	.	G	46	12.271794	0.99652	.	.	ENSG00000126602	ENST00000246957;ENST00000538171	.	.	.	5.01	5.01	0.66863	.	0.064570	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-27.7047	17.6626	0.88196	0.0:0.0:1.0:0.0	.	.	.	.	X	625;572	.	ENSP00000246957:Q625X	Q	-	1	0	TRAP1	3652056	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.296000	0.96104	2.469000	0.83416	0.563000	0.77884	CAG		0.672	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		9	42	0	0	0	1	0	9	42				
ATF7IP2	80063	broad.mit.edu	37	16	10524744	10524744	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:10524744A>G	ENST00000396560.2	+	3	494	c.267A>G	c.(265-267)aaA>aaG	p.K89K	ATF7IP2_ENST00000396559.1_Silent_p.K89K|ATF7IP2_ENST00000356427.2_Silent_p.K89K|ATF7IP2_ENST00000324570.5_Silent_p.K89K|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	89					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						AGAAAAGTAAAGTATTCTCTC	0.338																																						ENST00000396560.2																			0				large_intestine(3)	3						c.(265-267)aaA>aaG		activating transcription factor 7 interacting protein 2							39.0	43.0	42.0					16																	10524744		2197	4300	6497	SO:0001819	synonymous_variant	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10524744A>G	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.267A>G	16.37:g.10524744A>G						ATF7IP2_ENST00000356427.2_Silent_p.K89K|ATF7IP2_ENST00000324570.5_Silent_p.K89K|ATF7IP2_ENST00000396559.1_Silent_p.K89K|ATF7IP2_ENST00000543967.1_Intron	p.K89K	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN			3	494	+			89					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Silent	SNP	ENST00000396560.2	37	c.267A>G	CCDS10540.1																																																																																				0.338	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		18	52	0	0	0	1	0	18	52				
KDM6A	7403	broad.mit.edu	37	X	44969463	44969463	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:44969463A>G	ENST00000377967.4	+	28	4186	c.4145A>G	c.(4144-4146)gAc>gGc	p.D1382G	KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Missense_Mutation_p.D1389G|KDM6A_ENST00000543216.1_Missense_Mutation_p.D1303G|KDM6A_ENST00000536777.1_Missense_Mutation_p.D1337G	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1382					canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAAATGGAGGACCTGATGCAA	0.403			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(4144-4146)gAc>gGc		lysine (K)-specific demethylase 6A							141.0	129.0	133.0					X																	44969463		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44969463A>G	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4145A>G	X.37:g.44969463A>G	ENSP00000367203:p.Asp1382Gly					KDM6A_ENST00000536777.1_Missense_Mutation_p.D1337G|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000543216.1_Missense_Mutation_p.D1303G|KDM6A_ENST00000382899.4_Missense_Mutation_p.D1389G	p.D1382G	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			28	4186	+			1382					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.4145A>G	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.644601	0.87859	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.21734	2.01;1.99;2.0;2.0	5.68	5.68	0.88126	.	0.042575	0.85682	D	0.000000	T	0.41766	0.1173	M	0.69823	2.125	0.80722	D	1	P;P;P;B;P	0.51147	0.476;0.799;0.942;0.43;0.785	B;P;P;B;P	0.56916	0.305;0.501;0.809;0.304;0.583	T	0.35847	-0.9772	10	0.87932	D	0	-14.1055	14.9065	0.70724	1.0:0.0:0.0:0.0	.	1021;1389;1337;1434;1382	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550	.;.;.;.;KDM6A_HUMAN	G	1079;1382;1337;1389;1303	ENSP00000367203:D1382G;ENSP00000437405:D1337G;ENSP00000372355:D1389G;ENSP00000443078:D1303G	ENSP00000334340:D1079G	D	+	2	0	KDM6A	44854407	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	1.902000	0.55061	0.486000	0.48141	GAC		0.403	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		36	43	0	0	0	1	0	36	43				
KMT2E	55904	broad.mit.edu	37	7	104753006	104753006	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:104753006A>G	ENST00000311117.3	+	27	5348	c.4803A>G	c.(4801-4803)ggA>ggG	p.G1601G	KMT2E_ENST00000334877.4_Silent_p.G1559G|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000257745.4_Silent_p.G1601G	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1601	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CAGTTCCAGGACACCACGTGA	0.502																																						ENST00000334877.4																			0											c.(4675-4677)ggA>ggG		lysine (K)-specific methyltransferase 2E							157.0	139.0	145.0					7																	104753006		2203	4300	6503	SO:0001819	synonymous_variant	55904							g.chr7:104753006A>G	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4803A>G	7.37:g.104753006A>G						KMT2E_ENST00000257745.4_Silent_p.G1601G|KMT2E_ENST00000311117.3_Silent_p.G1601G|SRPK2_ENST00000493638.1_Intron	p.G1559G							26	5211	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP	ENST00000311117.3	37	c.4677A>G	CCDS34723.1																																																																																				0.502	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			4	195	0	0	0	1	0	4	195				
TRAF6	7189	broad.mit.edu	37	11	36520057	36520057	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:36520057C>T	ENST00000526995.1	-	3	676	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	TRAF6_ENST00000348124.5_Missense_Mutation_p.E144K|TRAF6_ENST00000529150.1_5'Flank	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	144	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TGTCTCAGTTCCATCTTGTGC	0.373																																						ENST00000526995.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27						c.(430-432)Gaa>Aaa		TNF receptor-associated factor 6, E3 ubiquitin protein ligase							122.0	116.0	118.0					11																	36520057		2202	4298	6500	SO:0001583	missense	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|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	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36520057C>T		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.430G>A	11.37:g.36520057C>T	ENSP00000433623:p.Glu144Lys					TRAF6_ENST00000348124.5_Missense_Mutation_p.E144K	p.E144K	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN			3	676	-	all_lung(20;0.211)	all_hematologic(20;0.107)	144			Interaction with TAX1BP1.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	c.430G>A	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567248	0.65651	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.24723	1.84;1.84	5.54	4.62	0.57501	TRAF-like (1);Seven In Absentia Homolog-type (1);	0.044283	0.85682	N	0.000000	T	0.29158	0.0725	M	0.66439	2.03	0.80722	D	1	B	0.31485	0.325	B	0.25987	0.065	T	0.08006	-1.0743	10	0.45353	T	0.12	-17.3172	16.0894	0.81082	0.1352:0.8648:0.0:0.0	.	144	Q9Y4K3	TRAF6_HUMAN	K	144	ENSP00000433623:E144K;ENSP00000337853:E144K	ENSP00000337853:E144K	E	-	1	0	TRAF6	36476633	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.036000	0.70948	1.462000	0.47948	0.655000	0.94253	GAA		0.373	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		22	66	0	0	0	1	0	22	66				
FCGBP	8857	broad.mit.edu	37	19	40392046	40392046	+	Silent	SNP	G	G	A	rs147841331		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:40392046G>A	ENST00000221347.6	-	17	8347	c.8340C>T	c.(8338-8340)tgC>tgT	p.C2780C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2780	Cys-rich.|TIL 6.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGATGGGCACGCAGGCTTGGC	0.612																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(8338-8340)tgC>tgT		Fc fragment of IgG binding protein		G		1,4363	2.1+/-5.4	0,1,2181	42.0	41.0	41.0		8340	-5.3	0.4	19	dbSNP_134	41	0,8598		0,0,4299	no	coding-synonymous	FCGBP	NM_003890.2		0,1,6480	AA,AG,GG		0.0,0.0229,0.0077		2780/5406	40392046	1,12961	2182	4299	6481	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40392046G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.8340C>T	19.37:g.40392046G>A							p.C2780C	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		17	8347	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2780			Cys-rich.|TIL 6.		O95784	Silent	SNP	ENST00000221347.6	37	c.8340C>T	CCDS12546.1																																																																																				0.612	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		15	46	0	0	0	1	0	15	46				
STK36	27148	broad.mit.edu	37	2	219563614	219563614	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:219563614G>A	ENST00000295709.3	+	26	3626	c.3347G>A	c.(3346-3348)aGc>aAc	p.S1116N	STK36_ENST00000392106.2_Missense_Mutation_p.S1095N|STK36_ENST00000392105.3_Missense_Mutation_p.S1095N|STK36_ENST00000440309.1_Missense_Mutation_p.S1116N	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCCCTGCGCAGCCTCCTGGGC	0.602																																						ENST00000295709.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52						c.(3346-3348)aGc>aAc		serine/threonine kinase 36							40.0	43.0	42.0					2																	219563614		2203	4300	6503	SO:0001583	missense	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219563614G>A	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.3347G>A	2.37:g.219563614G>A	ENSP00000295709:p.Ser1116Asn					STK36_ENST00000392105.3_Missense_Mutation_p.S1095N|STK36_ENST00000440309.1_Missense_Mutation_p.S1116N|STK36_ENST00000392106.2_Missense_Mutation_p.S1095N	p.S1116N	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	26	3626	+		Renal(207;0.0915)	1116						Missense_Mutation	SNP	ENST00000295709.3	37	c.3347G>A	CCDS2421.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.388|7.388	0.630204|0.630204	0.14257|0.14257	.|.	.|.	ENSG00000163482|ENSG00000163482	ENST00000431040|ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	.|T;T;T;T	.|0.64803	.|0.71;0.71;-0.12;0.71	6.06|6.06	5.16|5.16	0.70880|0.70880	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.122213	.|0.37577	.|N	.|0.002024	T|T	0.48429|0.48429	0.1499|0.1499	L|L	0.36672|0.36672	1.1|1.1	0.25392|0.25392	N|N	0.98852|0.98852	.|P;B;B	.|0.35226	.|0.491;0.001;0.0	.|B;B;B	.|0.37015	.|0.239;0.003;0.001	T|T	0.39354|0.39354	-0.9618|-0.9618	5|10	.|0.25106	.|T	.|0.35	-3.2507|-3.2507	6.1742|6.1742	0.20434|0.20434	0.1098:0.0:0.7078:0.1824|0.1098:0.0:0.7078:0.1824	.|.	.|1095;1095;1116	.|A8MU99;Q9NRP7-2;Q9NRP7	.|.;.;STK36_HUMAN	T|N	309|1116;1095;1095;1116	.|ENSP00000295709:S1116N;ENSP00000375955:S1095N;ENSP00000375954:S1095N;ENSP00000394095:S1116N	.|ENSP00000295709:S1116N	A|S	+|+	1|2	0|0	STK36|STK36	219271858|219271858	0.934000|0.934000	0.31675|0.31675	0.999000|0.999000	0.59377|0.59377	0.575000|0.575000	0.36095|0.36095	1.373000|1.373000	0.34272|0.34272	1.533000|1.533000	0.49186|0.49186	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.602	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			4	112	0	0	0	1	0	4	112				
TRIM39	56658	broad.mit.edu	37	6	30308120	30308120	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:30308120T>C	ENST00000396547.1	+	6	1035	c.875T>C	c.(874-876)tTa>tCa	p.L292S	TRIM39_ENST00000396548.1_Intron|TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000376656.4_Missense_Mutation_p.L292S|TRIM39_ENST00000376659.5_Intron|TRIM39_ENST00000540416.1_Intron|TRIM39_ENST00000396551.3_Intron			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	292					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						CTCCTTGGATTAGTAAAAGAA	0.408																																						ENST00000376656.4																			0				ovary(3)	3						c.(874-876)tTa>tCa		tripartite motif containing 39							53.0	54.0	54.0					6																	30308120		1509	2708	4217	SO:0001583	missense	56658							g.chr6:30308120T>C	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.875T>C	6.37:g.30308120T>C	ENSP00000379796:p.Leu292Ser					TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000396547.1_Missense_Mutation_p.L292S|TRIM39_ENST00000396548.1_Intron|TRIM39_ENST00000540416.1_Intron|TRIM39_ENST00000376659.5_Intron|TRIM39_ENST00000396551.3_Intron	p.L292S	NM_021253.3	NP_067076.2					7	1187	+								Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	ENST00000396547.1	37	c.875T>C	CCDS34377.1	.	.	.	.	.	.	.	.	.	.	T	9.517	1.107218	0.20714	.	.	ENSG00000204599	ENST00000376656;ENST00000545104;ENST00000396547	T;T	0.62788	0.0;0.0	4.98	2.44	0.29823	.	12.060400	0.00166	N	0.000000	T	0.32224	0.0822	N	0.08118	0	0.09310	N	0.999999	D	0.58970	0.984	P	0.59595	0.86	T	0.50800	-0.8785	10	0.10377	T	0.69	.	4.4039	0.11400	0.1834:0.0938:0.0:0.7228	.	292	Q9HCM9	TRI39_HUMAN	S	292	ENSP00000365844:L292S;ENSP00000379796:L292S	ENSP00000365844:L292S	L	+	2	0	TRIM39	30416099	0.033000	0.19621	0.010000	0.14722	0.034000	0.12701	0.274000	0.18680	0.329000	0.23460	0.482000	0.46254	TTA		0.408	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		12	55	0	0	0	1	0	12	55				
POU2F3	25833	broad.mit.edu	37	11	120176426	120176426	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:120176426C>T	ENST00000543440.2	+	8	851	c.701C>T	c.(700-702)gCc>gTc	p.A234V	POU2F3_ENST00000260264.4_Missense_Mutation_p.A236V	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	234	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CGATTTGAGGCCCTCAACCTG	0.587																																						ENST00000260264.4																			0				large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17						c.(706-708)gCc>gTc		POU class 2 homeobox 3							151.0	127.0	135.0					11																	120176426		2203	4299	6502	SO:0001583	missense	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120176426C>T	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.701C>T	11.37:g.120176426C>T	ENSP00000441687:p.Ala234Val					POU2F3_ENST00000543440.2_Missense_Mutation_p.A234V	p.A236V	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	8	741	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	234			POU-specific.		A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	ENST00000543440.2	37	c.707C>T	CCDS8431.1	.	.	.	.	.	.	.	.	.	.	C	35	5.467201	0.96257	.	.	ENSG00000137709	ENST00000543440;ENST00000260264;ENST00000533620;ENST00000532638	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	5.71	5.71	0.89125	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.93468	0.7916	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.93836	0.7132	10	0.87932	D	0	.	19.8575	0.96767	0.0:1.0:0.0:0.0	.	188;234	E9PIN6;Q9UKI9	.;PO2F3_HUMAN	V	236;234;188;19	ENSP00000441687:A236V;ENSP00000260264:A234V;ENSP00000435738:A188V;ENSP00000436236:A19V	ENSP00000260264:A234V	A	+	2	0	POU2F3	119681636	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.698000	0.92095	0.561000	0.74099	GCC		0.587	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			8	139	0	0	0	1	0	8	139				
DOCK9	23348	broad.mit.edu	37	13	99630082	99630082	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:99630082C>T	ENST00000376460.1	-	1	162	c.82G>A	c.(82-84)Gca>Aca	p.A28T	DOCK9_ENST00000442173.1_Missense_Mutation_p.A28T|DOCK9_ENST00000448493.2_Intron|DOCK9_ENST00000339416.2_Intron	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	0					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCCTGAGCTGCATCCTTGTAT	0.517																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(82-84)Gca>Aca		dedicator of cytokinesis 9							51.0	47.0	49.0					13																	99630082		1568	3582	5150	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99630082C>T	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.82G>A	13.37:g.99630082C>T	ENSP00000365643:p.Ala28Thr					DOCK9_ENST00000442173.1_Missense_Mutation_p.A28T|DOCK9_ENST00000339416.2_Intron|DOCK9_ENST00000448493.2_Intron	p.A28T	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			1	162	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		0					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.82G>A	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049528	0.55218	.	.	ENSG00000088387	ENST00000376460;ENST00000428223;ENST00000442173	T;T	0.22945	2.27;1.93	5.91	5.91	0.95273	.	.	.	.	.	T	0.22437	0.0541	L	0.36672	1.1	0.40464	D	0.980275	B;B	0.30361	0.018;0.277	B;B	0.26310	0.01;0.068	T	0.03315	-1.1049	8	.	.	.	.	17.7991	0.88581	0.0:1.0:0.0:0.0	.	28;28	E9PFM9;Q9BZ29-5	.;.	T	28	ENSP00000365643:A28T;ENSP00000406883:A28T	.	A	-	1	0	DOCK9	98428083	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	2.140000	0.42159	2.808000	0.96608	0.655000	0.94253	GCA		0.517	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		4	11	0	0	0	1	0	4	11				
BRMS1L	84312	broad.mit.edu	37	14	36337211	36337211	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:36337211T>C	ENST00000216807.7	+	9	1026	c.827T>C	c.(826-828)aTt>aCt	p.I276T	BRMS1L_ENST00000543183.1_Missense_Mutation_p.I228T	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	276					regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		ACAATATGTATTGATAAAAAA	0.353																																						ENST00000216807.7																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(826-828)aTt>aCt		breast cancer metastasis-suppressor 1-like							107.0	100.0	102.0					14																	36337211		2203	4300	6503	SO:0001583	missense	84312				regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr14:36337211T>C	AK096496	CCDS32066.1	14q13.1	2005-09-22	2003-12-02	2003-12-03		ENSG00000100916			20512	protein-coding gene	gene with protein product			"""breast cancer metastasis-suppressor 1"""	BRMS1			Standard	XM_005268128		Approved	MGC11296, FLJ39177	uc001wtl.3	Q5PSV4		ENST00000216807.7:c.827T>C	14.37:g.36337211T>C	ENSP00000216807:p.Ile276Thr					BRMS1L_ENST00000543183.1_Missense_Mutation_p.I228T	p.I276T	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)	9	1026	+	Breast(36;0.137)|Hepatocellular(127;0.158)		276					A6NFW5|A6NH45|B2RD65|Q9BRI4	Missense_Mutation	SNP	ENST00000216807.7	37	c.827T>C	CCDS32066.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.420989	0.62622	.	.	ENSG00000100916	ENST00000216807;ENST00000543183	.	.	.	5.64	4.48	0.54585	.	0.046340	0.85682	D	0.000000	T	0.40272	0.1110	L	0.43152	1.355	0.58432	D	0.999994	P	0.47409	0.895	B	0.34873	0.191	T	0.49995	-0.8879	9	0.87932	D	0	-9.6622	11.8629	0.52476	0.0:0.0696:0.0:0.9304	.	276	Q5PSV4	BRM1L_HUMAN	T	276;228	.	ENSP00000216807:I276T	I	+	2	0	BRMS1L	35406962	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	5.237000	0.65360	2.144000	0.66660	0.533000	0.62120	ATT		0.353	BRMS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409601.2	NM_032352		4	84	0	0	0	1	0	4	84				
MAP4K4	9448	broad.mit.edu	37	2	102505386	102505386	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:102505386C>T	ENST00000347699.4	+	29	3625	c.3625C>T	c.(3625-3627)Cgc>Tgc	p.R1209C	MAP4K4_ENST00000324219.4_Missense_Mutation_p.R1290C|MAP4K4_ENST00000350878.4_Missense_Mutation_p.R1249C|MAP4K4_ENST00000350198.4_Missense_Mutation_p.R1136C|MAP4K4_ENST00000413150.2_Missense_Mutation_p.R1124C|MAP4K4_ENST00000456652.1_Missense_Mutation_p.R1008C|MAP4K4_ENST00000302217.5_Missense_Mutation_p.R1012C|MAP4K4_ENST00000425019.1_Missense_Mutation_p.R1242C	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1209	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTTGTGTGAACGCAATGACAA	0.398																																						ENST00000413150.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(3370-3372)Cgc>Tgc		mitogen-activated protein kinase kinase kinase kinase 4							103.0	101.0	102.0					2																	102505386		1875	4106	5981	SO:0001583	missense	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102505386C>T	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.3625C>T	2.37:g.102505386C>T	ENSP00000314363:p.Arg1209Cys					MAP4K4_ENST00000347699.4_Missense_Mutation_p.R1209C|MAP4K4_ENST00000350878.4_Missense_Mutation_p.R1249C|MAP4K4_ENST00000302217.5_Missense_Mutation_p.R1012C|MAP4K4_ENST00000425019.1_Missense_Mutation_p.R1242C|MAP4K4_ENST00000456652.1_Missense_Mutation_p.R1008C|MAP4K4_ENST00000350198.4_Missense_Mutation_p.R1136C|MAP4K4_ENST00000324219.4_Missense_Mutation_p.R1290C	p.R1124C	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN			28	3425	+			1209			CNH.|Mediates interaction with RAP2A.		O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.3370C>T	CCDS56130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.272253|4.272253	0.80580|0.80580	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	T;T;T;T;T;T;T;T;T|.	0.05258|.	3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47;3.47|.	5.5|5.5	5.5|5.5	0.81552|0.81552	Citron-like (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83830|0.83830	0.5339|0.5339	M|M	0.86651|0.86651	2.83|2.83	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D|.	0.97110|.	0.995;0.995;1.0;0.997;0.992;0.999;0.998;0.992;1.0;0.998|.	D|D	0.85435|0.85435	0.1151|0.1151	10|5	0.87932|.	D|.	0|.	.|.	19.4036|19.4036	0.94640|0.94640	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1249;1205;1008;1012;1135;1209;1242;1136;1181;1290|.	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	C|M	1242;1290;1136;1012;1124;1008;1209;1140;1249|1025	ENSP00000392830:R1242C;ENSP00000313644:R1290C;ENSP00000281111:R1136C;ENSP00000303600:R1012C;ENSP00000389752:R1124C;ENSP00000387370:R1008C;ENSP00000314363:R1209C;ENSP00000409720:R1140C;ENSP00000343658:R1249C|.	ENSP00000303600:R1012C|.	R|T	+|+	1|2	0|0	MAP4K4|MAP4K4	101871818|101871818	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	3.865000|3.865000	0.56033|0.56033	2.575000|2.575000	0.86900|0.86900	0.650000|0.650000	0.86243|0.86243	CGC|ACG		0.398	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		9	19	0	0	0	1	0	9	19				
GTF3C1	2975	broad.mit.edu	37	16	27480660	27480660	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:27480660T>C	ENST00000356183.4	-	32	5041	c.5026A>G	c.(5026-5028)Aag>Gag	p.K1676E	GTF3C1_ENST00000561623.1_Missense_Mutation_p.K1676E	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1676					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGCTGGAACTTCATCTGGCAG	0.647																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(5026-5028)Aag>Gag		general transcription factor IIIC, polypeptide 1, alpha 220kDa							94.0	68.0	77.0					16																	27480660		2197	4299	6496	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27480660T>C	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5026A>G	16.37:g.27480660T>C	ENSP00000348510:p.Lys1676Glu					GTF3C1_ENST00000561623.1_Missense_Mutation_p.K1676E	p.K1676E	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			32	5041	-			1676					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.5026A>G	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.563940	0.45694	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.25085	1.82	4.36	4.36	0.52297	.	0.125953	0.52532	D	0.000067	T	0.23965	0.0580	L	0.55481	1.735	0.29922	N	0.822643	P;P	0.45902	0.561;0.868	B;B	0.41510	0.126;0.359	T	0.16276	-1.0408	10	0.38643	T	0.18	-20.5833	8.9311	0.35670	0.166:0.0:0.0:0.834	.	1676;1676	Q12789;Q12789-3	TF3C1_HUMAN;.	E	1676;1672	ENSP00000348510:K1676E	ENSP00000348510:K1676E	K	-	1	0	GTF3C1	27388161	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	2.203000	0.42752	1.839000	0.53478	0.402000	0.26972	AAG		0.647	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		3	8	0	0	0	1	0	3	8				
SLC25A13	10165	broad.mit.edu	37	7	95822425	95822425	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:95822425G>A	ENST00000265631.5	-	6	675	c.539C>T	c.(538-540)gCc>gTc	p.A180V	SLC25A13_ENST00000542654.1_Missense_Mutation_p.A72V|SLC25A13_ENST00000416240.2_Missense_Mutation_p.A180V			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	180	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GAAGTCGATGGCTGTGACTCT	0.438																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(538-540)gCc>gTc		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						164.0	146.0	152.0					7																	95822425		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95822425G>A	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.539C>T	7.37:g.95822425G>A	ENSP00000265631:p.Ala180Val					SLC25A13_ENST00000542654.1_Missense_Mutation_p.A72V|SLC25A13_ENST00000265631.5_Missense_Mutation_p.A180V	p.A180V	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		6	729	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		180			EF-hand 4.		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.539C>T	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442497	0.63067	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.79352	-1.26;-1.26;-1.26	5.09	5.09	0.68999	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74359	0.3706	L	0.50333	1.59	0.58432	D	0.999999	B;B;B	0.25521	0.128;0.079;0.079	B;B;B	0.26310	0.068;0.045;0.045	T	0.68861	-0.5297	10	0.27082	T	0.32	-14.9507	19.0741	0.93151	0.0:0.0:1.0:0.0	.	72;180;180	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	V	180;180;72	ENSP00000265631:A180V;ENSP00000400101:A180V;ENSP00000440484:A72V	ENSP00000265631:A180V	A	-	2	0	SLC25A13	95660361	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	7.792000	0.85828	2.817000	0.96982	0.563000	0.77884	GCC		0.438	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		24	75	0	0	0	1	0	24	75				
LILRA3	11026	broad.mit.edu	37	19	54802539	54802539	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:54802539T>C	ENST00000251390.3	-	5	993	c.902A>G	c.(901-903)tAc>tGc	p.Y301C	LILRA3_ENST00000391744.3_Missense_Mutation_p.Y237C|LILRA3_ENST00000391745.1_Missense_Mutation_p.Y318C	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	301	Ig-like C2-type 3.		Y -> H (in dbSNP:rs4473306). {ECO:0000269|PubMed:12750859}.		defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGAGAGGTTGTATGCACCGGA	0.682																																						ENST00000391745.1																			0				NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(952-954)tAc>tGc		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3							39.0	41.0	40.0					19																	54802539		2194	4174	6368	SO:0001583	missense	11026							g.chr19:54802539T>C	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.902A>G	19.37:g.54802539T>C	ENSP00000251390:p.Tyr301Cys					LILRA3_ENST00000391744.3_Missense_Mutation_p.Y237C|LILRA3_ENST00000251390.3_Missense_Mutation_p.Y301C	p.Y318C						GBM - Glioblastoma multiforme(193;0.105)	9	1269	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.953A>G	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	T	9.960	1.222604	0.22457	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.00753	5.74;5.74;5.74	2.03	0.947	0.19555	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.927675	0.08845	N	0.885305	T	0.02688	0.0081	M	0.82823	2.61	0.09310	N	1	B;P	0.46912	0.129;0.886	B;P	0.54856	0.321;0.762	T	0.38779	-0.9645	10	0.51188	T	0.08	.	4.1793	0.10367	0.3085:0.0:0.0:0.6915	.	301;301	E7EU74;Q8N6C8	.;LIRA3_HUMAN	C	301;237;318	ENSP00000251390:Y301C;ENSP00000375624:Y237C;ENSP00000375625:Y318C	ENSP00000251390:Y301C	Y	-	2	0	LILRA3	59494351	0.015000	0.18098	0.018000	0.16275	0.004000	0.04260	0.053000	0.14184	0.230000	0.21059	0.477000	0.44152	TAC		0.682	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			20	30	0	0	0	1	0	20	30				
ELMSAN1	91748	broad.mit.edu	37	14	74205363	74205363	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:74205363A>G	ENST00000286523.5	-	2	2131	c.1349T>C	c.(1348-1350)gTg>gCg	p.V450A	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.V450A|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	450					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GCTCTGGATCACTCCGCCCCG	0.667																																						ENST00000286523.5																			0											c.(1348-1350)gTg>gCg		ELM2 and Myb/SANT-like domain containing 1							50.0	47.0	48.0					14																	74205363		2203	4299	6502	SO:0001583	missense	91748							g.chr14:74205363A>G	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1349T>C	14.37:g.74205363A>G	ENSP00000286523:p.Val450Ala					ELMSAN1_ENST00000394071.2_Missense_Mutation_p.V450A	p.V450A	NM_194278.3	NP_919254.2					2	2131	-								Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	c.1349T>C	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	A	12.61	1.988821	0.35131	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.23348	1.92;1.92;1.92;1.91	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000018	T	0.39172	0.1068	L	0.34521	1.04	0.58432	D	0.999999	P;D	0.76494	0.856;0.999	B;D	0.78314	0.193;0.991	T	0.18493	-1.0335	10	0.49607	T	0.09	-16.5804	14.1492	0.65370	1.0:0.0:0.0:0.0	.	450;450	A0PJD3;Q6PJG2	.;CN043_HUMAN	A	450	ENSP00000377634:V450A;ENSP00000286523:V450A;ENSP00000407767:V450A;ENSP00000402380:V450A	ENSP00000286523:V450A	V	-	2	0	C14orf43	73275116	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	8.946000	0.92992	1.756000	0.51951	0.402000	0.26972	GTG		0.667	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		20	73	0	0	0	1	0	20	73				
ELAC1	55520	broad.mit.edu	37	18	48510840	48510840	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:48510840T>C	ENST00000269466.3	+	3	639	c.532T>C	c.(532-534)Ttt>Ctt	p.F178L	RP11-729L2.2_ENST00000590722.2_Intron|RP11-729L2.2_ENST00000588256.1_Intron|ELAC1_ENST00000588577.1_Intron|ELAC1_ENST00000591429.1_Missense_Mutation_p.F178L|SMAD4_ENST00000452201.2_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	178					tRNA 3'-trailer cleavage (GO:0042779)	cytosol (GO:0005829)|nucleus (GO:0005634)	endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		TGTAAAAGCATTTCGCCTCTT	0.403																																						ENST00000269466.3																			0				kidney(1)|large_intestine(4)|prostate(1)	6						c.(532-534)Ttt>Ctt		elaC ribonuclease Z 1							62.0	62.0	62.0					18																	48510840		2203	4300	6503	SO:0001583	missense	55520				tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr18:48510840T>C	AB029151	CCDS11949.1	18q21	2013-05-24	2013-05-24		ENSG00000141642	ENSG00000141642	3.1.26.11		14197	protein-coding gene	gene with protein product	"""tRNA Z (short form)"", ""RNaseZ(S)"""	608079	"""elaC (E. coli) homolog 1"", ""elaC homolog 1 (E. coli)"""			12711671, 21559454	Standard	NM_018696		Approved	D29	uc002lez.3	Q9H777	OTTHUMG00000132695	ENST00000269466.3:c.532T>C	18.37:g.48510840T>C	ENSP00000269466:p.Phe178Leu					ELAC1_ENST00000591429.1_Missense_Mutation_p.F178L|ELAC1_ENST00000588577.1_Intron|RP11-729L2.2_ENST00000590722.2_Intron|RP11-729L2.2_ENST00000588256.1_Intron|SMAD4_ENST00000452201.2_Intron	p.F178L	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)	3	639	+		Colorectal(6;0.0269)|all_epithelial(6;0.0729)	178					Q9NS99	Missense_Mutation	SNP	ENST00000269466.3	37	c.532T>C	CCDS11949.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.213751	0.58452	.	.	ENSG00000141642	ENST00000269466	T	0.76060	-0.99	5.95	5.95	0.96441	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	T	0.70570	0.3239	L	0.45470	1.425	0.80722	D	1	P;P	0.38788	0.461;0.647	B;B	0.43052	0.295;0.406	T	0.66428	-0.5926	10	0.09843	T	0.71	.	15.4149	0.74960	0.0:0.0:0.0:1.0	.	178;178	Q53EY2;Q9H777	.;RNZ1_HUMAN	L	178	ENSP00000269466:F178L	ENSP00000269466:F178L	F	+	1	0	ELAC1	46764838	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.906000	0.75719	2.281000	0.76405	0.528000	0.53228	TTT		0.403	ELAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255992.2			17	58	0	0	0	1	0	17	58				
MYH7B	57644	broad.mit.edu	37	20	33582100	33582100	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:33582100T>C	ENST00000262873.7	+	25	2814	c.2722T>C	c.(2722-2724)Ttg>Ctg	p.L908L		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	866						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCTGCGGGGGTTGCGAGGGGC	0.657																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2722-2724)Ttg>Ctg		myosin, heavy chain 7B, cardiac muscle, beta							40.0	49.0	46.0					20																	33582100		1982	4156	6138	SO:0001819	synonymous_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33582100T>C	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2722T>C	20.37:g.33582100T>C							p.L908L	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		25	2814	+			866					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	ENST00000262873.7	37	c.2722T>C	CCDS42869.1																																																																																				0.657	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		43	115	0	0	0	1	0	43	115				
S100A7A	338324	broad.mit.edu	37	1	153390569	153390569	+	Missense_Mutation	SNP	C	C	A	rs148917755	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:153390569C>A	ENST00000368729.4	+	2	68	c.11C>A	c.(10-12)aCt>aAt	p.T4N	S100A7A_ENST00000329256.2_Missense_Mutation_p.T4N|S100A7A_ENST00000368728.2_Missense_Mutation_p.T4N	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	4						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGAGCAACACTCAAGCTGAG	0.423																																						ENST00000368729.4																			0				cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12						c.(10-12)aCt>aAt		S100 calcium binding protein A7A							222.0	196.0	205.0					1																	153390569		2203	4297	6500	SO:0001583	missense	338324					cytoplasm	calcium ion binding	g.chr1:153390569C>A	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	21657	protein-coding gene	gene with protein product			"""S100 calcium binding protein A15"", ""S100 calcium binding protein A7-like 1"""	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.11C>A	1.37:g.153390569C>A	ENSP00000357718:p.Thr4Asn					S100A7A_ENST00000329256.2_Missense_Mutation_p.T4N|S100A7A_ENST00000368728.2_Missense_Mutation_p.T4N	p.T4N	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	68	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		4					D3DV38|Q5SY69	Missense_Mutation	SNP	ENST00000368729.4	37	c.11C>A	CCDS30872.1	.	.	.	.	.	.	.	.	.	.	.	10.56	1.385639	0.25031	.	.	ENSG00000184330	ENST00000368729;ENST00000368728;ENST00000329256	T;T;T	0.07800	3.16;3.16;3.16	2.46	1.53	0.23141	EF-hand-like domain (1);	.	.	.	.	T	0.05410	0.0143	M	0.69358	2.11	0.09310	N	1	P	0.51791	0.948	P	0.47827	0.558	T	0.24977	-1.0145	9	0.72032	D	0.01	.	5.1111	0.14809	0.0:0.8267:0.0:0.1733	.	4	Q86SG5	S1A7A_HUMAN	N	4	ENSP00000357718:T4N;ENSP00000357717:T4N;ENSP00000329008:T4N	ENSP00000329008:T4N	T	+	2	0	S100A7A	151657193	0.003000	0.15002	0.010000	0.14722	0.145000	0.21501	0.438000	0.21559	0.573000	0.29400	0.591000	0.81541	ACT		0.423	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823		41	135	1	0	1.22674e-20	1	1.29326e-20	41	135				
ARHGEF17	9828	broad.mit.edu	37	11	73021624	73021624	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:73021624C>T	ENST00000263674.3	+	1	2291	c.1941C>T	c.(1939-1941)ggC>ggT	p.G647G	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	647					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAGATGAAGGCATTGGGGCAG	0.637																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1939-1941)ggC>ggT		Rho guanine nucleotide exchange factor (GEF) 17							70.0	60.0	64.0					11																	73021624		2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73021624C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1941C>T	11.37:g.73021624C>T							p.G647G	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	2291	+			647					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.1941C>T	CCDS8221.1																																																																																				0.637	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		22	54	0	0	0	1	0	22	54				
PRSS37	136242	broad.mit.edu	37	7	141537832	141537832	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:141537832G>A	ENST00000350549.3	-	3	629	c.258C>T	c.(256-258)gtC>gtT	p.V86V	PRSS37_ENST00000438520.1_Silent_p.V86V	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	86	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						TCCAGTAGCGGACGATCTGAA	0.517																																						ENST00000350549.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						c.(256-258)gtC>gtT		protease, serine, 37							273.0	226.0	242.0					7																	141537832		2203	4300	6503	SO:0001819	synonymous_variant	136242				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141537832G>A		CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"""Serine peptidases / Serine peptidases"""	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.258C>T	7.37:g.141537832G>A						PRSS37_ENST00000438520.1_Silent_p.V86V	p.V86V	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN			3	629	-			86			Peptidase S1.		B2RPB5	Silent	SNP	ENST00000350549.3	37	c.258C>T	CCDS34764.1																																																																																				0.517	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347763.1	NM_001008270		49	175	0	0	0	1	0	49	175				
ITGA6	3655	broad.mit.edu	37	2	173344436	173344436	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:173344436A>G	ENST00000264106.6	+	11	1776	c.1573A>G	c.(1573-1575)Aaa>Gaa	p.K525E	ITGA6_ENST00000409532.1_Missense_Mutation_p.K367E|ITGA6_ENST00000343713.4_Missense_Mutation_p.K481E|ITGA6_ENST00000375221.2_Missense_Mutation_p.K525E|ITGA6_ENST00000264107.7_Missense_Mutation_p.K486E|ITGA6_ENST00000409080.1_Missense_Mutation_p.K486E|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	525					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CCTCCGCCAGAAAACAGCGTG	0.488																																						ENST00000375221.2																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(1573-1575)Aaa>Gaa		integrin, alpha 6							136.0	143.0	141.0					2																	173344436		2203	4300	6503	SO:0001583	missense	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173344436A>G		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.1573A>G	2.37:g.173344436A>G	ENSP00000264106:p.Lys525Glu					ITGA6_ENST00000409080.1_Missense_Mutation_p.K486E|ITGA6_ENST00000343713.4_Missense_Mutation_p.K481E|ITGA6_ENST00000264107.7_Missense_Mutation_p.K486E|ITGA6_ENST00000264106.6_Missense_Mutation_p.K525E|ITGA6_ENST00000409532.1_Missense_Mutation_p.K367E	p.K525E			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		11	1776	+			525					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.1573A>G		.	.	.	.	.	.	.	.	.	.	A	14.22	2.469171	0.43839	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.38	5.38	0.77491	.	0.183913	0.56097	D	0.000022	T	0.66277	0.2773	M	0.80028	2.48	0.58432	D	0.999999	B;P;B;D	0.54601	0.082;0.553;0.346;0.967	B;B;B;P	0.52554	0.022;0.281;0.387;0.702	T	0.69304	-0.5180	10	0.40728	T	0.16	.	15.4002	0.74834	1.0:0.0:0.0:0.0	.	481;525;486;486	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	E	367;486;525;525;481;486;525;481	ENSP00000386614:K367E;ENSP00000264107:K486E;ENSP00000264106:K525E;ENSP00000364369:K525E;ENSP00000341078:K481E;ENSP00000386896:K486E;ENSP00000406694:K525E;ENSP00000394169:K481E	ENSP00000264106:K525E	K	+	1	0	ITGA6	173052682	1.000000	0.71417	0.985000	0.45067	0.426000	0.31534	5.387000	0.66243	2.037000	0.60232	0.533000	0.62120	AAA		0.488	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				71	234	0	0	0	1	0	71	234				
MYO15A	51168	broad.mit.edu	37	17	18054751	18054751	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:18054751C>T	ENST00000205890.5	+	40	8035	c.7697C>T	c.(7696-7698)tCt>tTt	p.S2566F	MYO15A_ENST00000585180.1_5'Flank|MYO15A_ENST00000418233.3_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2566	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACGCTCAACTCTGAGCACTTC	0.627																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(7696-7698)tCt>tTt		myosin XVA							69.0	75.0	73.0					17																	18054751		2089	4225	6314	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18054751C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7697C>T	17.37:g.18054751C>T	ENSP00000205890:p.Ser2566Phe						p.S2566F	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			40	8035	+	all_neural(463;0.228)		2566			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.7697C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.780761	0.70222	.	.	ENSG00000091536	ENST00000205890	D	0.90676	-2.71	5.25	5.25	0.73442	.	.	.	.	.	D	0.93983	0.8073	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.92600	0.6090	9	0.33940	T	0.23	.	18.8008	0.92016	0.0:1.0:0.0:0.0	.	2566	Q9UKN7	MYO15_HUMAN	F	2566	ENSP00000205890:S2566F	ENSP00000205890:S2566F	S	+	2	0	MYO15A	17995476	0.992000	0.36948	0.964000	0.40570	0.911000	0.54048	3.089000	0.50183	2.608000	0.88229	0.655000	0.94253	TCT		0.627	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		14	109	0	0	0	1	0	14	109				
FBXL7	23194	broad.mit.edu	37	5	15936691	15936691	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:15936691A>G	ENST00000504595.1	+	4	1353	c.872A>G	c.(871-873)cAc>cGc	p.H291R	FBXL7_ENST00000329673.7_Missense_Mutation_p.H279R|FBXL7_ENST00000510662.1_Missense_Mutation_p.H244R|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	291					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GAAGGCCTGCACACCATCGCG	0.627																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(871-873)cAc>cGc		F-box and leucine-rich repeat protein 7							67.0	69.0	69.0					5																	15936691		2195	4293	6488	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936691A>G	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.872A>G	5.37:g.15936691A>G	ENSP00000423630:p.His291Arg					FBXL7_ENST00000510662.1_Missense_Mutation_p.H244R|FBXL7_ENST00000329673.7_Missense_Mutation_p.H279R	p.H291R	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			4	1353	+			291					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.872A>G	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	A	6.481	0.456886	0.12283	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.01933	4.55;4.55;4.55	5.16	5.16	0.70880	.	0.050006	0.85682	D	0.000000	T	0.01627	0.0052	N	0.08118	0	0.49915	D	0.999838	B	0.02656	0.0	B	0.04013	0.001	T	0.59123	-0.7513	10	0.14656	T	0.56	.	14.9974	0.71443	1.0:0.0:0.0:0.0	.	291	Q9UJT9	FBXL7_HUMAN	R	291;244;279	ENSP00000423630:H291R;ENSP00000425184:H244R;ENSP00000329632:H279R	ENSP00000329632:H279R	H	+	2	0	FBXL7	15989691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.943000	0.70211	1.955000	0.56771	0.533000	0.62120	CAC		0.627	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		22	55	0	0	0	1	0	22	55				
RINT1	60561	broad.mit.edu	37	7	105205728	105205728	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:105205728T>C	ENST00000257700.2	+	13	2122	c.1891T>C	c.(1891-1893)Ttg>Ctg	p.L631L	EFCAB10_ENST00000485614.1_3'UTR|EFCAB10_ENST00000490493.1_5'Flank|EFCAB10_ENST00000480514.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	631	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTCCAGATGGTTGTCCTTGCC	0.408																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1891-1893)Ttg>Ctg		RAD50 interactor 1							85.0	78.0	80.0					7																	105205728		2203	4300	6503	SO:0001819	synonymous_variant	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105205728T>C	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1891T>C	7.37:g.105205728T>C						EFCAB10_ENST00000485614.1_3'UTR|EFCAB10_ENST00000480514.1_3'UTR	p.L631L	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			13	2122	+			631			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Silent	SNP	ENST00000257700.2	37	c.1891T>C	CCDS34726.1																																																																																				0.408	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		11	51	0	0	0	1	0	11	51				
FBLN2	2199	broad.mit.edu	37	3	13679345	13679345	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:13679345A>G	ENST00000295760.7	+	17	3550	c.3481A>G	c.(3481-3483)Aag>Gag	p.K1161E	FBLN2_ENST00000404922.3_Missense_Mutation_p.K1208E|FBLN2_ENST00000535798.1_Missense_Mutation_p.K1187E|FBLN2_ENST00000492059.1_Missense_Mutation_p.K1208E	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1161	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CGTGGAGATGAAGCTCTGGAG	0.642																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(3622-3624)Aag>Gag		fibulin 2							103.0	115.0	111.0					3																	13679345		2084	4213	6297	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13679345A>G	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3481A>G	3.37:g.13679345A>G	ENSP00000295760:p.Lys1161Glu					FBLN2_ENST00000535798.1_Missense_Mutation_p.K1187E|FBLN2_ENST00000295760.7_Missense_Mutation_p.K1161E|FBLN2_ENST00000492059.1_Missense_Mutation_p.K1208E	p.K1208E	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		18	3741	+			1161					B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.3622A>G	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089623	0.76756	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.79141	-1.24;-1.24;-1.15;-1.24	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.84379	0.5459	L	0.50333	1.59	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.997;0.996	D	0.84790	0.0778	10	0.48119	T	0.1	.	14.6964	0.69124	1.0:0.0:0.0:0.0	.	1161;1208;1187	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	E	1187;1208;1161;1208	ENSP00000445705:K1187E;ENSP00000384169:K1208E;ENSP00000295760:K1161E;ENSP00000420042:K1208E	ENSP00000295760:K1161E	K	+	1	0	FBLN2	13654346	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.726000	0.68515	2.054000	0.61138	0.460000	0.39030	AAG		0.642	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		13	208	0	0	0	1	0	13	208				
SQRDL	58472	broad.mit.edu	37	15	45954196	45954196	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:45954196C>T	ENST00000260324.7	+	3	664	c.278C>T	c.(277-279)gCc>gTc	p.A93V	RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.A93V|SQRDL_ENST00000568606.1_Missense_Mutation_p.A93V	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	93					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GGTGCTGGTGCCAAACAATTG	0.448																																						ENST00000260324.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11						c.(277-279)gCc>gTc		sulfide quinone reductase-like (yeast)							108.0	89.0	95.0					15																	45954196		2198	4297	6495	SO:0001583	missense	58472						oxidoreductase activity	g.chr15:45954196C>T	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.278C>T	15.37:g.45954196C>T	ENSP00000260324:p.Ala93Val					RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.A93V|SQRDL_ENST00000568606.1_Missense_Mutation_p.A93V	p.A93V	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	3	664	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	93					Q9UQM8	Missense_Mutation	SNP	ENST00000260324.7	37	c.278C>T	CCDS10127.1	.	.	.	.	.	.	.	.	.	.	C	9.555	1.116862	0.20795	.	.	ENSG00000137767	ENST00000260324	T	0.42900	0.96	5.52	5.52	0.82312	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	N	0.10837	0.055	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.12630	-1.0540	10	0.05351	T	0.99	.	18.0115	0.89225	0.0:1.0:0.0:0.0	.	93	Q9Y6N5	SQRD_HUMAN	V	93	ENSP00000260324:A93V	ENSP00000260324:A93V	A	+	2	0	SQRDL	43741488	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	4.664000	0.61540	2.585000	0.87301	0.655000	0.94253	GCC		0.448	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			19	29	0	0	0	1	0	19	29				
GPR98	84059	broad.mit.edu	37	5	89981749	89981749	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:89981749A>G	ENST00000405460.2	+	29	6523	c.6427A>G	c.(6427-6429)Aca>Gca	p.T2143A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2143	Calx-beta 15. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTGACTAGAACAGGAGGAGC	0.413																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(6427-6429)Aca>Gca		G protein-coupled receptor 98							86.0	77.0	80.0					5																	89981749		1915	4127	6042	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89981749A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6427A>G	5.37:g.89981749A>G	ENSP00000384582:p.Thr2143Ala						p.T2143A	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	29	6523	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2143					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.6427A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.133632	0.37630	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.30182	1.54	5.8	3.37	0.38596	Na-Ca exchanger/integrin-beta4 (2);	0.200517	0.52532	N	0.000070	T	0.28764	0.0713	L	0.61036	1.89	0.80722	D	1	B	0.10296	0.003	B	0.15052	0.012	T	0.05289	-1.0894	10	0.34782	T	0.22	.	8.5343	0.33353	0.8013:0.1313:0.0674:0.0	.	2143	Q8WXG9	GPR98_HUMAN	A	2143	ENSP00000384582:T2143A	ENSP00000296619:T2143A	T	+	1	0	GPR98	90017505	0.999000	0.42202	0.978000	0.43139	0.998000	0.95712	3.596000	0.54024	0.441000	0.26529	0.482000	0.46254	ACA		0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		9	29	0	0	0	1	0	9	29				
CHD7	55636	broad.mit.edu	37	8	61777674	61777674	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:61777674G>A	ENST00000423902.2	+	38	8655	c.8176G>A	c.(8176-8178)Gcc>Acc	p.A2726T	CHD7_ENST00000524602.1_Missense_Mutation_p.A677T	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2726	Poly-Ala.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAGTGAGATCGCCAGAGCAGC	0.597																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(8176-8178)Gcc>Acc		chromodomain helicase DNA binding protein 7							18.0	22.0	21.0					8																	61777674		1979	4141	6120	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61777674G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8176G>A	8.37:g.61777674G>A	ENSP00000392028:p.Ala2726Thr					CHD7_ENST00000524602.1_Missense_Mutation_p.A677T	p.A2726T	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		38	8655	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2726			Poly-Ala.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.8176G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	32	5.162324	0.94727	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602	D;T	0.82433	-1.61;1.95	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.87281	0.6138	L	0.53249	1.67	0.54753	D	0.999981	D	0.65815	0.995	P	0.54815	0.761	D	0.88123	0.2833	10	0.72032	D	0.01	-13.2617	19.5289	0.95219	0.0:0.0:1.0:0.0	.	2726	Q9P2D1	CHD7_HUMAN	T	2726;2726;677	ENSP00000392028:A2726T;ENSP00000437061:A677T	ENSP00000307304:A2726T	A	+	1	0	CHD7	61940228	1.000000	0.71417	0.990000	0.47175	0.865000	0.49528	9.252000	0.95491	2.613000	0.88420	0.591000	0.81541	GCC		0.597	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		5	25	0	0	0	1	0	5	25				
NAV1	89796	broad.mit.edu	37	1	201779810	201779810	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:201779810A>C	ENST00000367296.4	+	24	5141	c.4721A>C	c.(4720-4722)tAc>tCc	p.Y1574S	MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.Y1571S|NAV1_ENST00000367297.4_Missense_Mutation_p.Y1566S|NAV1_ENST00000367302.1_Missense_Mutation_p.Y1527S|NAV1_ENST00000367300.3_Missense_Mutation_p.Y1514S|NAV1_ENST00000367295.1_Missense_Mutation_p.Y1180S|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1574					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TTGGCCGAGTACCTGGTGGAG	0.642																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(4720-4722)tAc>tCc		neuron navigator 1							67.0	58.0	61.0					1																	201779810		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201779810A>C	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4721A>C	1.37:g.201779810A>C	ENSP00000356265:p.Tyr1574Ser					NAV1_ENST00000367295.1_Missense_Mutation_p.Y1180S|NAV1_ENST00000367302.1_Missense_Mutation_p.Y1527S|NAV1_ENST00000367297.4_Missense_Mutation_p.Y1566S|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.Y1514S|NAV1_ENST00000295624.6_Missense_Mutation_p.Y1571S	p.Y1574S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			24	5141	+			1574					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.4721A>C	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	A	22.0	4.237186	0.79800	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	4.85	4.85	0.62838	.	0.070606	0.64402	D	0.000019	D	0.91369	0.7277	L	0.58428	1.81	0.50039	D	0.999849	D;D	0.89917	0.999;1.0	D;D	0.68943	0.943;0.961	D	0.92338	0.5879	10	0.87932	D	0	-25.9544	14.2681	0.66135	1.0:0.0:0.0:0.0	.	1180;1571	Q8NEY1-5;Q8NEY1-3	.;.	S	1527;1574;1571;1566;1514;1180	ENSP00000356271:Y1527S;ENSP00000356265:Y1574S;ENSP00000295624:Y1571S;ENSP00000356266:Y1566S;ENSP00000356269:Y1514S;ENSP00000356264:Y1180S	ENSP00000295624:Y1571S	Y	+	2	0	NAV1	200046433	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.911000	0.69939	2.025000	0.59659	0.477000	0.44152	TAC		0.642	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		11	48	0	0	0	1	0	11	48				
MARS2	92935	broad.mit.edu	37	2	198570956	198570956	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:198570956T>A	ENST00000282276.6	+	1	870	c.827T>A	c.(826-828)aTc>aAc	p.I276N	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	276					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TCGCAGACCATCTATGTATGG	0.557																																						ENST00000282276.6																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(826-828)aTc>aAc		methionyl-tRNA synthetase 2, mitochondrial	L-Methionine(DB00134)						70.0	70.0	70.0					2																	198570956		2203	4300	6503	SO:0001583	missense	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198570956T>A	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.827T>A	2.37:g.198570956T>A	ENSP00000282276:p.Ile276Asn					AC011997.1_ENST00000409845.1_Intron	p.I276N	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN			1	870	+			276					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	c.827T>A	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.013872	0.75161	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.51325	0.71	5.33	5.33	0.75918	Aminoacyl-tRNA synthetase, class I (M) (1);	0.050855	0.85682	D	0.000000	T	0.78451	0.4285	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85527	0.1207	10	0.87932	D	0	-16.3662	13.2544	0.60070	0.0:0.0:0.0:1.0	.	276	Q96GW9	SYMM_HUMAN	N	276;203	ENSP00000282276:I276N	ENSP00000282276:I276N	I	+	2	0	MARS2	198279201	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.943000	0.87716	2.021000	0.59480	0.533000	0.62120	ATC		0.557	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		24	68	0	0	0	1	0	24	68				
DIABLO	56616	broad.mit.edu	37	12	122692969	122692969	+	Missense_Mutation	SNP	G	G	A	rs371241484		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:122692969G>A	ENST00000443649.3	-	7	1496	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	RP11-512M8.5_ENST00000535844.1_3'UTR|B3GNT4_ENST00000546192.1_3'UTR|DIABLO_ENST00000267169.6_Missense_Mutation_p.R174W|DIABLO_ENST00000464942.2_Missense_Mutation_p.R174W|DIABLO_ENST00000413918.1_Missense_Mutation_p.R183W|DIABLO_ENST00000353548.6_Missense_Mutation_p.R183W|B3GNT4_ENST00000545141.1_Intron	NM_019887.4	NP_063940.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	227					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)				breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GACTCAGCCCGCTCCTCCCCT	0.607																																						ENST00000464942.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7						c.(520-522)Cgg>Tgg		diablo, IAP-binding mitochondrial protein		G	TRP/ARG,TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	122.0	114.0	117.0		679,547	-3.3	0.0	12		117	0,8600		0,0,4300	no	missense,missense	DIABLO	NM_019887.4,NM_138929.3	101,101	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging,possibly-damaging	227/240,183/196	122692969	3,13003	2203	4300	6503	SO:0001583	missense	56616				activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding	g.chr12:122692969G>A	AF262240	CCDS9228.1, CCDS9229.1, CCDS73541.1	12q24.31	2011-08-02	2011-03-11		ENSG00000184047	ENSG00000184047			21528	protein-coding gene	gene with protein product	"""second mitochondria-derived activator of caspase"""	605219				12749848, 17237824, 21722859	Standard	NM_019887		Approved	SMAC, DIABLO-S, FLJ25049, FLJ10537, DFNA64	uc010tab.2	Q9NR28	OTTHUMG00000157014	ENST00000443649.3:c.679C>T	12.37:g.122692969G>A	ENSP00000398495:p.Arg227Trp					B3GNT4_ENST00000546192.1_3'UTR|B3GNT4_ENST00000545141.1_Intron|DIABLO_ENST00000413918.1_Missense_Mutation_p.R183W|DIABLO_ENST00000267169.6_Missense_Mutation_p.R174W|RP11-512M8.5_ENST00000535844.1_3'UTR|DIABLO_ENST00000443649.3_Missense_Mutation_p.R227W|DIABLO_ENST00000353548.6_Missense_Mutation_p.R183W	p.R174W	NM_001278304.1	NP_001265233.1	Q9NR28	DBLOH_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)	5	1913	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		227					B2RDQ0|Q6W3F3|Q96LV0|Q9BT11|Q9HAV6	Missense_Mutation	SNP	ENST00000443649.3	37	c.520C>T	CCDS9228.1	.	.	.	.	.	.	.	.	.	.	G	9.080	0.998986	0.19121	6.81E-4	0.0	ENSG00000184047	ENST00000413918;ENST00000443649;ENST00000353548;ENST00000464942;ENST00000267169;ENST00000541273;ENST00000474004	T;T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.36	-3.29	0.05017	Smac/DIABLO-like (1);	1.315740	0.04603	N	0.398824	T	0.63141	0.2486	N	0.22421	0.69	0.09310	N	1	D;D;D	0.59767	0.986;0.986;0.958	B;B;B	0.41691	0.315;0.315;0.364	T	0.60811	-0.7189	10	0.72032	D	0.01	-6.513	7.3838	0.26870	0.0:0.3219:0.3576:0.3205	.	183;227;174	Q6W3F3;Q9NR28;Q502X2	.;DBLOH_HUMAN;.	W	183;227;183;174;174;130;154	ENSP00000411638:R183W;ENSP00000398495:R227W;ENSP00000320343:R183W;ENSP00000442360:R174W;ENSP00000267169:R174W;ENSP00000440971:R130W;ENSP00000442669:R154W	ENSP00000267169:R174W	R	-	1	2	DIABLO	121258922	0.000000	0.05858	0.004000	0.12327	0.039000	0.13416	0.079000	0.14782	-0.414000	0.07495	-0.284000	0.09977	CGG		0.607	DIABLO-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347102.2	NM_019887		71	86	0	0	0	1	0	71	86				
EPHA8	2046	broad.mit.edu	37	1	22927162	22927162	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:22927162G>A	ENST00000166244.3	+	14	2469	c.2397G>A	c.(2395-2397)aaG>aaA	p.K799K		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	799	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGGCGGGAAGATCCCCATCC	0.667																																						ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2395-2397)aaG>aaA		EPH receptor A8							49.0	52.0	51.0					1																	22927162		2203	4300	6503	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22927162G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2397G>A	1.37:g.22927162G>A							p.K799K	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2469	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	799			Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.2397G>A	CCDS225.1																																																																																				0.667	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		22	65	0	0	0	1	0	22	65				
CDC27	996	broad.mit.edu	37	17	45219268	45219268	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:45219268A>G	ENST00000066544.3	-	12	1595	c.1502T>C	c.(1501-1503)gTa>gCa	p.V501A	CDC27_ENST00000531206.1_Missense_Mutation_p.V507A|CDC27_ENST00000527547.1_Missense_Mutation_p.V500A|CDC27_ENST00000446365.2_Missense_Mutation_p.V440A	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	501					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTGGCACAGTACCCAACCAGT	0.353																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1501-1503)gTa>gCa		cell division cycle 27							103.0	108.0	107.0					17																	45219268		2203	4299	6502	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219268A>G	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1502T>C	17.37:g.45219268A>G	ENSP00000066544:p.Val501Ala					CDC27_ENST00000531206.1_Missense_Mutation_p.V507A|CDC27_ENST00000527547.1_Missense_Mutation_p.V500A|CDC27_ENST00000446365.2_Missense_Mutation_p.V440A	p.V501A	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			12	1595	-			501					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.1502T>C	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.569136	0.86439	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.80199	0.4579	L	0.55213	1.73	0.80722	D	1	D;D;D;D	0.76494	0.999;0.991;0.996;0.999	D;P;D;D	0.66979	0.948;0.791;0.928;0.948	T	0.81994	-0.0677	10	0.87932	D	0	-21.9441	14.3156	0.66450	1.0:0.0:0.0:0.0	.	440;500;507;501	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	A	501;507;440;500	ENSP00000066544:V501A;ENSP00000434614:V507A;ENSP00000392802:V440A;ENSP00000437339:V500A	ENSP00000066544:V501A	V	-	2	0	CDC27	42574267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.253000	0.95501	2.267000	0.75376	0.528000	0.53228	GTA		0.353	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			39	153	0	0	0	1	0	39	153				
TFAP2E	339488	broad.mit.edu	37	1	36056327	36056327	+	Missense_Mutation	SNP	G	G	A	rs142726594	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:36056327G>A	ENST00000373235.3	+	6	1205	c.997G>A	c.(997-999)Gct>Act	p.A333T		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCGACAGCACGCTGACCCGGG	0.657													G|||	3	0.000599042	0.0	0.0	5008	,	,		21995	0.0		0.002	False		,,,				2504	0.001					ENST00000373235.3																			0				endometrium(1)|large_intestine(1)	2						c.(997-999)Gct>Act		transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)		G	THR/ALA	0,4406		0,0,2203	40.0	32.0	34.0		997	1.4	0.0	1	dbSNP_134	34	4,8594	3.7+/-12.6	0,4,4295	yes	missense	TFAP2E	NM_178548.3	58	0,4,6498	AA,AG,GG		0.0465,0.0,0.0308	benign	333/443	36056327	4,13000	2203	4299	6502	SO:0001583	missense	339488					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:36056327G>A	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.997G>A	1.37:g.36056327G>A	ENSP00000362332:p.Ala333Thr						p.A333T	NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN			6	1205	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	333			H-S-H (helix-span-helix), dimerization.			Missense_Mutation	SNP	ENST00000373235.3	37	c.997G>A	CCDS393.2	.	.	.	.	.	.	.	.	.	.	G	0.080	-1.185047	0.01620	0.0	4.65E-4	ENSG00000116819	ENST00000373235	D	0.96619	-4.07	5.65	1.35	0.21983	Transcription factor AP-2, C-terminal (1);	0.486738	0.20982	N	0.082190	D	0.84497	0.5485	N	0.01742	-0.745	0.09310	N	1	B	0.23990	0.095	B	0.16289	0.015	T	0.74928	-0.3497	10	0.07813	T	0.8	-0.2988	9.6523	0.39906	0.0698:0.0:0.4158:0.5144	.	333	Q6VUC0	AP2E_HUMAN	T	333	ENSP00000362332:A333T	ENSP00000362332:A333T	A	+	1	0	TFAP2E	35828914	0.509000	0.26163	0.008000	0.14137	0.211000	0.24417	1.129000	0.31381	0.311000	0.23014	-0.266000	0.10368	GCT		0.657	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1	NM_178548		7	17	0	0	0	1	0	7	17				
ANK2	287	broad.mit.edu	37	4	114294295	114294295	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:114294295A>G	ENST00000357077.4	+	44	11713	c.11660A>G	c.(11659-11661)tAc>tGc	p.Y3887C	ANK2_ENST00000394537.3_Missense_Mutation_p.Y1802C|ANK2_ENST00000510275.2_Missense_Mutation_p.Y485C|ANK2_ENST00000506722.1_Missense_Mutation_p.Y1793C|ANK2_ENST00000509550.1_Missense_Mutation_p.Y978C|ANK2_ENST00000264366.6_Missense_Mutation_p.Y3854C	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3887					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAGAAGAATACATTGATGAG	0.403																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(11659-11661)tAc>tGc		ankyrin 2, neuronal							145.0	142.0	143.0					4																	114294295		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114294295A>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11660A>G	4.37:g.114294295A>G	ENSP00000349588:p.Tyr3887Cys					ANK2_ENST00000510275.2_Missense_Mutation_p.Y485C|ANK2_ENST00000506722.1_Missense_Mutation_p.Y1793C|ANK2_ENST00000394537.3_Missense_Mutation_p.Y1802C|ANK2_ENST00000509550.1_Missense_Mutation_p.Y978C|ANK2_ENST00000264366.6_Missense_Mutation_p.Y3854C	p.Y3887C	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	44	11713	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3854					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.11660A>G	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.60|19.60	3.858210|3.858210	0.71834|0.71834	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	.|T;T;T;T;D;D;D	.|0.98164	.|-0.91;-0.89;-1.05;-1.06;-1.66;-2.61;-4.76	6.06|6.06	4.86|4.86	0.63082|0.63082	.|.	.|0.000000	.|0.50627	.|D	.|0.000118	D|D	0.98710|0.98710	0.9567|0.9567	M|M	0.77616|0.77616	2.38|2.38	0.46586|0.46586	D|D	0.999112|0.999112	.|D;D;D;P;D;D	.|0.89917	.|0.998;0.999;0.998;0.948;1.0;1.0	.|P;D;P;B;D;D	.|0.91635	.|0.819;0.944;0.733;0.443;0.999;0.999	D|D	0.99120|0.99120	1.0849|1.0849	5|10	.|0.66056	.|D	.|0.02	.|.	12.6636|12.6636	0.56828|0.56828	0.8761:0.0:0.0:0.1239|0.8761:0.0:0.0:0.1239	.|.	.|978;868;834;1802;3887;1793	.|E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;.;.;.;.;.	M|C	834|1793;868;1802;3887;3854;1793;978;485;897	.|ENSP00000421067:Y1793C;ENSP00000378044:Y1802C;ENSP00000349588:Y3887C;ENSP00000264366:Y3854C;ENSP00000426944:Y978C;ENSP00000421023:Y485C;ENSP00000422498:Y897C	.|ENSP00000264366:Y3854C	I|Y	+|+	3|2	3|0	ANK2|ANK2	114513744|114513744	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.783000|0.783000	0.44284|0.44284	6.885000|6.885000	0.75606|0.75606	1.091000|1.091000	0.41335|0.41335	0.533000|0.533000	0.62120|0.62120	ATA|TAC		0.403	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		51	137	0	0	0	1	0	51	137				
CARD14	79092	broad.mit.edu	37	17	78164614	78164614	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:78164614G>A	ENST00000573882.1	+	9	1541	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K	CARD14_ENST00000344227.2_Silent_p.K335K|CARD14_ENST00000570421.1_Silent_p.K335K|CARD14_ENST00000392434.2_Silent_p.K98K|CARD14_ENST00000573754.1_3'UTR			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	335					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGTTCCAGAAGAGTAAGATGG	0.587																																						ENST00000573882.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(1003-1005)aaG>aaA		caspase recruitment domain family, member 14							91.0	85.0	87.0					17																	78164614		2203	4300	6503	SO:0001819	synonymous_variant	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78164614G>A	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1005G>A	17.37:g.78164614G>A						CARD14_ENST00000344227.2_Silent_p.K335K|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Silent_p.K335K|CARD14_ENST00000392434.2_Silent_p.K98K	p.K335K			Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		9	1541	+	all_neural(118;0.0952)		335					B8QQJ3|Q9BVB5	Silent	SNP	ENST00000573882.1	37	c.1005G>A	CCDS11768.1																																																																																				0.587	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			27	106	0	0	0	1	0	27	106				
SH2D4B	387694	broad.mit.edu	37	10	82363435	82363435	+	Silent	SNP	G	G	A	rs367575042		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:82363435G>A	ENST00000470604.2	+	5	741	c.741G>A	c.(739-741)acG>acA	p.T247T	SH2D4B_ENST00000313455.4_Silent_p.T199T|SH2D4B_ENST00000339284.2_Silent_p.T248T			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	247										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			AGAAGGGCACGGTCGCTGGCC	0.692													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16482	0.0		0.0	False		,,,				2504	0.0					ENST00000339284.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13						c.(742-744)acG>acA		SH2 domain containing 4B		G	,	1,4405		0,1,2202	26.0	26.0	26.0		597,744	-12.0	0.0	10		26	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SH2D4B	NM_001145719.1,NM_207372.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	199/310,248/358	82363435	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	387694							g.chr10:82363435G>A		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.741G>A	10.37:g.82363435G>A						SH2D4B_ENST00000470604.2_Silent_p.T247T|SH2D4B_ENST00000313455.4_Silent_p.T199T	p.T248T	NM_207372.2	NP_997255.2	Q5SQS7	SH24B_HUMAN	Colorectal(32;0.229)		5	1174	+			247					Q5SQS5|Q6ZVW9|Q6ZVZ3	Silent	SNP	ENST00000470604.2	37	c.744G>A																																																																																					0.692	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_351984		6	28	0	0	0	1	0	6	28				
RBM15B	29890	broad.mit.edu	37	3	51430952	51430952	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:51430952C>T	ENST00000323686.4	+	1	2222	c.2122C>T	c.(2122-2124)Ctg>Ttg	p.L708L		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	708					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GACCAAAAAGCTGAAGAATCT	0.527																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(2122-2124)Ctg>Ttg		RNA binding motif protein 15B							103.0	103.0	103.0					3																	51430952		2203	4300	6503	SO:0001819	synonymous_variant	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430952C>T	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.2122C>T	3.37:g.51430952C>T							p.L708L	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	2222	+			708					A4QPG7|Q6QE19|Q9BV96	Silent	SNP	ENST00000323686.4	37	c.2122C>T	CCDS33764.1																																																																																				0.527	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		44	139	0	0	0	1	0	44	139				
GZMK	3003	broad.mit.edu	37	5	54326335	54326335	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:54326335A>G	ENST00000231009.2	+	3	356	c.286A>G	c.(286-288)Aca>Gca	p.T96A	CTD-2313F11.1_ENST00000608929.1_RNA|CTD-2313F11.1_ENST00000608466.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	96	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTCCAAACAAACACTGGAGAT	0.398																																						ENST00000231009.2																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15						c.(286-288)Aca>Gca		granzyme K (granzyme 3; tryptase II)							140.0	135.0	137.0					5																	54326335		2203	4300	6503	SO:0001583	missense	3003				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr5:54326335A>G	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.286A>G	5.37:g.54326335A>G	ENSP00000231009:p.Thr96Ala					CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA	p.T96A	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN			3	356	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	96			Peptidase S1.		B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	c.286A>G	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	A	4.453	0.083805	0.08583	.	.	ENSG00000113088	ENST00000231009	D	0.88509	-2.39	4.97	3.8	0.43715	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.889113	0.09918	N	0.738915	D	0.82651	0.5083	L	0.37750	1.13	0.24433	N	0.994563	B	0.02656	0.0	B	0.06405	0.002	T	0.68857	-0.5298	10	0.30854	T	0.27	.	7.6215	0.28187	0.9041:0.0:0.0959:0.0	.	96	P49863	GRAK_HUMAN	A	96	ENSP00000231009:T96A	ENSP00000231009:T96A	T	+	1	0	GZMK	54362092	0.904000	0.30761	0.752000	0.31206	0.123000	0.20343	2.003000	0.40844	1.012000	0.39366	-0.290000	0.09829	ACA		0.398	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		4	135	0	0	0	1	0	4	135				
ATXN1	6310	broad.mit.edu	37	6	16327465	16327465	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:16327465C>T	ENST00000244769.4	-	8	2013	c.1077G>A	c.(1075-1077)agG>agA	p.R359R	ATXN1_ENST00000436367.1_Silent_p.R359R	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	359					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCACCACGTGCCTGGACTCGT	0.677																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(1075-1077)agG>agA		ataxin 1							75.0	84.0	81.0					6																	16327465		2203	4300	6503	SO:0001819	synonymous_variant	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327465C>T	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1077G>A	6.37:g.16327465C>T						ATXN1_ENST00000436367.1_Silent_p.R359R	p.R359R	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	2013	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	359					Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	c.1077G>A	CCDS34342.1																																																																																				0.677	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		48	170	0	0	0	1	0	48	170				
VWA3B	200403	broad.mit.edu	37	2	98750336	98750336	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:98750336T>G	ENST00000477737.1	+	7	1126	c.922T>G	c.(922-924)Tcc>Gcc	p.S308A	VWA3B_ENST00000451075.2_Missense_Mutation_p.S158A|VWA3B_ENST00000435344.1_Missense_Mutation_p.S308A	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	308										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCCTGCATTCTCCACAAAGGA	0.458																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(922-924)Tcc>Gcc		von Willebrand factor A domain containing 3B							279.0	262.0	267.0					2																	98750336		2017	4185	6202	SO:0001583	missense	200403							g.chr2:98750336T>G	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.922T>G	2.37:g.98750336T>G	ENSP00000417955:p.Ser308Ala					VWA3B_ENST00000435344.1_Missense_Mutation_p.S308A|VWA3B_ENST00000451075.2_Missense_Mutation_p.S158A	p.S308A	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			7	1126	+			308					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.922T>G	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.395334	0.25205	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.24538	1.85;3.29;2.42	5.66	-7.95	0.01148	.	1.803620	0.02507	N	0.091164	T	0.05410	0.0143	N	0.00707	-1.245	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.002	T	0.23332	-1.0191	10	0.21540	T	0.41	.	0.873	0.01218	0.255:0.1518:0.1748:0.4184	.	158;308;308	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	A	308;308;158	ENSP00000401959:S308A;ENSP00000417955:S308A;ENSP00000389463:S158A	ENSP00000411168:S308A	S	+	1	0	VWA3B	98116768	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.077000	0.01371	-1.287000	0.02381	-0.912000	0.02778	TCC		0.458	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		6	247	0	0	0	1	0	6	247				
SOX6	55553	broad.mit.edu	37	11	15994655	15994655	+	Silent	SNP	T	T	C	rs79401318		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:15994655T>C	ENST00000352083.6	-	16	2264	c.2187A>G	c.(2185-2187)caA>caG	p.Q729Q	SOX6_ENST00000396356.3_Silent_p.Q709Q|SOX6_ENST00000528252.1_Silent_p.Q702Q|SOX6_ENST00000316399.6_Silent_p.Q709Q|SOX6_ENST00000527619.1_Silent_p.Q705Q|SOX6_ENST00000528429.1_Silent_p.Q729Q			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	729					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|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)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TCTGAGGCTGTTGCCTATATA	0.423																																						ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(2185-2187)caA>caG		SRY (sex determining region Y)-box 6							66.0	67.0	67.0					11																	15994655		2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:15994655T>C	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.2187A>G	11.37:g.15994655T>C						SOX6_ENST00000316399.6_Silent_p.Q709Q|SOX6_ENST00000528252.1_Silent_p.Q702Q|SOX6_ENST00000396356.3_Silent_p.Q709Q|SOX6_ENST00000527619.1_Silent_p.Q705Q|SOX6_ENST00000528429.1_Silent_p.Q729Q	p.Q729Q			P35712	SOX6_HUMAN			16	2264	-			729					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.2187A>G																																																																																					0.423	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		12	39	0	0	0	1	0	12	39				
TMF1	7110	broad.mit.edu	37	3	69097622	69097622	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:69097622A>G	ENST00000398559.2	-	2	450	c.234T>C	c.(232-234)ccT>ccC	p.P78P	CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|TMF1_ENST00000543976.1_Silent_p.P78P|MIR3136_ENST00000583498.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	78					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TGATTGCTTTAGGAGAGGCTA	0.458																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(232-234)ccT>ccC		TATA element modulatory factor 1							139.0	136.0	137.0					3																	69097622		1913	4130	6043	SO:0001819	synonymous_variant	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69097622A>G		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.234T>C	3.37:g.69097622A>G						CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000398559.2_Silent_p.P78P|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA	p.P78P	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	2	480	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	78					B7ZLJ2|Q17R87|Q59GK0	Silent	SNP	ENST00000398559.2	37	c.234T>C	CCDS43105.1																																																																																				0.458	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		62	168	0	0	0	1	0	62	168				
ZKSCAN3	80317	broad.mit.edu	37	6	28333606	28333606	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:28333606G>T	ENST00000377255.3	+	7	1458	c.1161G>T	c.(1159-1161)aaG>aaT	p.K387N	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.K239N|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.K387N	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	387					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						ACCTTATCAAGCATCAGAGAA	0.502																																						ENST00000377255.3																			0				kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						c.(1159-1161)aaG>aaT		zinc finger with KRAB and SCAN domains 3							93.0	92.0	93.0					6																	28333606		2203	4300	6503	SO:0001583	missense	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28333606G>T	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.1161G>T	6.37:g.28333606G>T	ENSP00000366465:p.Lys387Asn					ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.K387N|ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.K239N	p.K387N	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN			7	1458	+			387					B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	c.1161G>T	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	13.05	2.121883	0.37436	.	.	ENSG00000189298	ENST00000252211;ENST00000341464;ENST00000377255	T;T;T	0.20598	2.06;3.2;2.06	3.97	-1.8	0.07907	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09730	0.0239	N	0.25060	0.705	0.09310	N	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.11372	-1.0590	9	0.19147	T	0.46	.	4.171	0.10329	0.3576:0.0:0.3909:0.2515	.	387	Q9BRR0	ZKSC3_HUMAN	N	387;239;387	ENSP00000252211:K387N;ENSP00000341883:K239N;ENSP00000366465:K387N	ENSP00000252211:K387N	K	+	3	2	ZKSCAN3	28441585	0.000000	0.05858	0.992000	0.48379	0.993000	0.82548	-4.332000	0.00251	-0.462000	0.06984	-0.290000	0.09829	AAG		0.502	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		4	113	1	0	0.150653	1	0.150988	4	113				
RASGRF2	5924	broad.mit.edu	37	5	80419549	80419549	+	Silent	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:80419549C>A	ENST00000265080.4	+	16	2626	c.2559C>A	c.(2557-2559)ccC>ccA	p.P853P		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	853					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCAGATCCCCCTCAACTCCTC	0.527																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2557-2559)ccC>ccA		Ras protein-specific guanine nucleotide-releasing factor 2							99.0	82.0	88.0					5																	80419549		2203	4300	6503	SO:0001819	synonymous_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80419549C>A	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2559C>A	5.37:g.80419549C>A							p.P853P	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	16	2626	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	853					B9EG89|Q9UK56	Silent	SNP	ENST00000265080.4	37	c.2559C>A	CCDS4052.1																																																																																				0.527	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		15	56	1	0	6.72482e-11	1	6.97693e-11	15	56				
PAFAH1B1	5048	broad.mit.edu	37	17	2577392	2577392	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:2577392T>C	ENST00000397195.5	+	8	1161	c.710T>C	c.(709-711)gTa>gCa	p.V237A	PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.V66A|PAFAH1B1_ENST00000572915.2_Splice_Site	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						AGAGAATGGGTACGTATGGTA	0.448																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						c.(709-711)gTa>gCa		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)							126.0	100.0	109.0					17																	2577392		2203	4300	6503	SO:0001583	missense	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2577392T>C	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.710T>C	17.37:g.2577392T>C	ENSP00000380378:p.Val237Ala					PAFAH1B1_ENST00000397193.3_3'UTR|PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.V66A	p.V237A	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN			8	1161	+			237			Interaction with dynein and dynactin.			Missense_Mutation	SNP	ENST00000397195.5	37	c.710T>C	CCDS32528.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.342095	0.81911	.	.	ENSG00000007168	ENST00000397195;ENST00000397193;ENST00000451360	T;T	0.73789	-0.78;-0.78	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86087	0.5849	M	0.79343	2.45	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.992;0.994	D	0.87861	0.2664	10	0.87932	D	0	.	15.2298	0.73378	0.0:0.0:0.0:1.0	.	66;237	B4DF38;P43034	.;LIS1_HUMAN	A	237;66;66	ENSP00000380378:V237A;ENSP00000395628:V66A	ENSP00000380377:V66A	V	+	2	0	PAFAH1B1	2524142	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.183000	0.69458	0.533000	0.62120	GTA		0.448	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		19	39	0	0	0	1	0	19	39				
ACTR2	10097	broad.mit.edu	37	2	65480896	65480896	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:65480896T>C	ENST00000260641.5	+	5	640	c.483T>C	c.(481-483)gaT>gaC	p.D161D	ACTR2_ENST00000542850.1_Silent_p.D106D|ACTR2_ENST00000377982.4_Silent_p.D166D	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	161					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium assembly (GO:0042384)|cytoplasmic transport (GO:0016482)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|spindle localization (GO:0051653)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						ACTCTGGAGATGGTGTGACTC	0.423																																						ENST00000260641.5																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						c.(481-483)gaT>gaC		ARP2 actin-related protein 2 homolog (yeast)							182.0	169.0	174.0					2																	65480896		2203	4300	6503	SO:0001819	synonymous_variant	10097				cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding	g.chr2:65480896T>C	AF006082	CCDS1881.1, CCDS46307.1	2p14	2008-05-20	2001-11-28		ENSG00000138071	ENSG00000138071			169	protein-coding gene	gene with protein product		604221	"""ARP2 (actin-related protein 2, yeast) homolog"""			9230079	Standard	NM_001005386		Approved	ARP2	uc002sdp.3	P61160	OTTHUMG00000129540	ENST00000260641.5:c.483T>C	2.37:g.65480896T>C						ACTR2_ENST00000542850.1_Silent_p.D106D|ACTR2_ENST00000377982.4_Silent_p.D166D	p.D161D	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN			5	640	+			161					B2RCP5|D6W5F4|E9PF41|O15142|Q96C82	Silent	SNP	ENST00000260641.5	37	c.483T>C	CCDS1881.1																																																																																				0.423	ACTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251730.1	NM_001005386		17	178	0	0	0	1	0	17	178				
ZNF451	26036	broad.mit.edu	37	6	57012089	57012089	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:57012089C>A	ENST00000370706.4	+	10	1450	c.1206C>A	c.(1204-1206)tgC>tgA	p.C402*	RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.C402*|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.C402*|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592038.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TACTCTATTGCCACAGCAGCG	0.378																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1204-1206)tgC>tgA		zinc finger protein 451							83.0	82.0	83.0					6																	57012089		2203	4300	6503	SO:0001587	stop_gained	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57012089C>A	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.1206C>A	6.37:g.57012089C>A	ENSP00000359740:p.Cys402*					RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.C402*|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.C402*|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA	p.C402*	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	1450	+	Lung NSC(77;0.145)		402					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Nonsense_Mutation	SNP	ENST00000370706.4	37	c.1206C>A	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	C	36	5.848227	0.97023	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	.	.	.	5.2	4.13	0.48395	.	0.103675	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5559	8.7881	0.34835	0.0:0.7476:0.0:0.2524	.	.	.	.	X	402	.	ENSP00000350083:C402X	C	+	3	2	ZNF451	57120048	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.714000	0.25808	2.419000	0.82065	0.650000	0.86243	TGC		0.378	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		32	77	1	0	4.02929e-09	1	4.1631e-09	32	77				
MUC17	140453	broad.mit.edu	37	7	100678334	100678334	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100678334A>G	ENST00000306151.4	+	3	3701	c.3637A>G	c.(3637-3639)Act>Gct	p.T1213A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1213	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCAACCTCAACTCCTGGAGA	0.512																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3637-3639)Act>Gct		mucin 17, cell surface associated							312.0	284.0	294.0					7																	100678334		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678334A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3637A>G	7.37:g.100678334A>G	ENSP00000302716:p.Thr1213Ala						p.T1213A	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	3701	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1213			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3637A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.635	-0.518050	0.04171	.	.	ENSG00000169876	ENST00000306151	T	0.02258	4.37	0.838	-1.05	0.10036	.	.	.	.	.	T	0.00815	0.0027	N	0.03608	-0.345	0.09310	N	1	P	0.36222	0.544	B	0.20384	0.029	T	0.48681	-0.9014	9	0.18710	T	0.47	.	4.3561	0.11179	0.7213:0.0:0.2787:0.0	.	1213	Q685J3	MUC17_HUMAN	A	1213	ENSP00000302716:T1213A	ENSP00000302716:T1213A	T	+	1	0	MUC17	100465054	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.293000	0.08320	-0.243000	0.09653	0.113000	0.15668	ACT		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		157	734	0	0	0	1	0	157	734				
GRIK2	2898	broad.mit.edu	37	6	102503397	102503397	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:102503397T>C	ENST00000421544.1	+	15	2994	c.2504T>C	c.(2503-2505)gTt>gCt	p.V835A	GRIK2_ENST00000413795.1_Missense_Mutation_p.V835A|GRIK2_ENST00000369134.4_Missense_Mutation_p.V786A|GRIK2_ENST00000318991.6_Missense_Mutation_p.V835A|GRIK2_ENST00000369138.1_Missense_Mutation_p.V835A|GRIK2_ENST00000369137.3_Missense_Mutation_p.V759A	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	835					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GTGCTTTCAGTTTTTGTGGCA	0.403																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2503-2505)gTt>gCt		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						95.0	107.0	103.0					6																	102503397		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102503397T>C		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2504T>C	6.37:g.102503397T>C	ENSP00000397026:p.Val835Ala					GRIK2_ENST00000369134.4_Missense_Mutation_p.V786A|GRIK2_ENST00000413795.1_Missense_Mutation_p.V835A|GRIK2_ENST00000421544.1_Missense_Mutation_p.V835A|GRIK2_ENST00000318991.6_Missense_Mutation_p.V835A|GRIK2_ENST00000369137.3_Missense_Mutation_p.V759A	p.V835A	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	15	2994	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	835					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.2504T>C	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.476335	0.84640	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	T;T;T;T;T;T	0.12879	2.74;2.69;2.64;2.94;2.69;2.74	5.51	5.51	0.81932	.	0.061993	0.64402	D	0.000004	T	0.22975	0.0555	M	0.76838	2.35	0.54753	D	0.999986	P;P;P	0.44006	0.824;0.731;0.824	P;P;P	0.52554	0.702;0.507;0.702	T	0.01068	-1.1462	10	0.87932	D	0	.	15.6824	0.77381	0.0:0.0:0.0:1.0	.	835;835;835	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	A	835;835;835;759;835;786;610	ENSP00000397026:V835A;ENSP00000405596:V835A;ENSP00000358134:V835A;ENSP00000358133:V759A;ENSP00000313276:V835A;ENSP00000358130:V786A	ENSP00000313276:V835A	V	+	2	0	GRIK2	102610090	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	8.040000	0.89188	2.111000	0.64477	0.477000	0.44152	GTT		0.403	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			39	122	0	0	0	1	0	39	122				
ICAM5	7087	broad.mit.edu	37	19	10405307	10405307	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10405307G>T	ENST00000221980.4	+	9	2284	c.2221G>T	c.(2221-2223)Ggc>Tgc	p.G741C		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	741					phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGTCACTGTGGGCGTGGAATG	0.652																																						ENST00000221980.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21						c.(2221-2223)Ggc>Tgc		intercellular adhesion molecule 5, telencephalin							52.0	45.0	47.0					19																	10405307		2202	4300	6502	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10405307G>T	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.2221G>T	19.37:g.10405307G>T	ENSP00000221980:p.Gly741Cys						p.G741C	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		9	2284	+			741					Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.2221G>T	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899577	0.52227	.	.	ENSG00000105376	ENST00000221980	T	0.12361	2.69	4.85	2.65	0.31530	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.124634	0.36591	N	0.002508	T	0.16981	0.0408	N	0.17082	0.46	0.31544	N	0.659626	D	0.76494	0.999	D	0.71870	0.975	T	0.06127	-1.0844	10	0.56958	D	0.05	-14.0007	6.7773	0.23626	0.0967:0.1775:0.7258:0.0	.	741	Q9UMF0	ICAM5_HUMAN	C	741	ENSP00000221980:G741C	ENSP00000221980:G741C	G	+	1	0	ICAM5	10266307	0.005000	0.15991	0.992000	0.48379	0.775000	0.43874	0.242000	0.18087	0.615000	0.30124	0.471000	0.43371	GGC		0.652	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		20	88	1	0	4.26978e-12	1	4.44313e-12	20	88				
NAP1L4	4676	broad.mit.edu	37	11	2975794	2975794	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:2975794A>G	ENST00000380542.4	-	12	1138	c.998T>C	c.(997-999)cTg>cCg	p.L333P	NAP1L4_ENST00000526115.1_Missense_Mutation_p.L333P	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	333					nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		AGTGAAGTACAGCACAGCCCG	0.507																																						ENST00000380542.4																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13						c.(997-999)cTg>cCg		nucleosome assembly protein 1-like 4							62.0	63.0	62.0					11																	2975794		1893	4110	6003	SO:0001583	missense	4676				nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding	g.chr11:2975794A>G	AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.998T>C	11.37:g.2975794A>G	ENSP00000369915:p.Leu333Pro					NAP1L4_ENST00000526115.1_Missense_Mutation_p.L333P	p.L333P	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)	12	1138	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	333					B2R6J4|F5HFY4	Missense_Mutation	SNP	ENST00000380542.4	37	c.998T>C	CCDS41599.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574469	0.86542	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115	T;T	0.26957	1.7;1.7	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.64812	-0.6319	10	0.36615	T	0.2	-11.1712	14.221	0.65826	1.0:0.0:0.0:0.0	.	333;333	F5HFY4;Q99733	.;NP1L4_HUMAN	P	333	ENSP00000369915:L333P;ENSP00000436397:L333P	ENSP00000369915:L333P	L	-	2	0	NAP1L4	2932370	1.000000	0.71417	0.982000	0.44146	0.968000	0.65278	8.501000	0.90501	1.936000	0.56123	0.528000	0.53228	CTG		0.507	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030273.3	NM_005969		18	70	0	0	0	1	0	18	70				
PCDHGA5	56110	broad.mit.edu	37	5	140745300	140745300	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140745300G>A	ENST00000518069.1	+	1	1403	c.1403G>A	c.(1402-1404)gGt>gAt	p.G468D	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	468	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCCCAGAGGTGTCTCTATC	0.542																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(1402-1404)gGt>gAt									111.0	119.0	117.0					5																	140745300		1952	4159	6111	SO:0001583	missense	56110							g.chr5:140745300G>A	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1403G>A	5.37:g.140745300G>A	ENSP00000429834:p.Gly468Asp					PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	p.G468D	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1403	+								Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.1403G>A	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	19.71	3.878157	0.72294	.	.	ENSG00000253485	ENST00000518069	T	0.68624	-0.34	5.18	5.18	0.71444	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.83603	0.5290	M	0.83603	2.65	0.44635	D	0.997617	D;D	0.76494	0.999;0.999	D;D	0.75484	0.969;0.986	D	0.86040	0.1519	9	0.87932	D	0	.	18.659	0.91465	0.0:0.0:1.0:0.0	.	468;468	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	D	468	ENSP00000429834:G468D	ENSP00000429834:G468D	G	+	2	0	PCDHGA5	140725484	1.000000	0.71417	0.986000	0.45419	0.714000	0.41099	5.684000	0.68197	2.570000	0.86706	0.563000	0.77884	GGT		0.542	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		5	322	0	0	0	1	0	5	322				
HHLA3	11147	broad.mit.edu	37	1	70820764	70820764	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:70820764A>G	ENST00000359875.5	+	1	270	c.130A>G	c.(130-132)Aca>Gca	p.T44A	HHLA3_ENST00000361764.4_Missense_Mutation_p.T44A|HHLA3_ENST00000531950.1_Missense_Mutation_p.T44A|HHLA3_ENST00000486110.1_3'UTR|HHLA3_ENST00000432224.1_Missense_Mutation_p.T44A|ANKRD13C_ENST00000370944.4_5'Flank|HHLA3_ENST00000370940.5_Missense_Mutation_p.T44A|ANKRD13C_ENST00000262346.6_5'Flank	NM_001036645.1	NP_001031722.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	44										large_intestine(3)|lung(1)	4						cagtcaaccaacatttactga	0.507																																						ENST00000359875.5																			0				large_intestine(3)|lung(1)	4						c.(130-132)Aca>Gca		HERV-H LTR-associating 3							115.0	88.0	97.0					1																	70820764		2203	4300	6503	SO:0001583	missense	11147						protein binding	g.chr1:70820764A>G	AF126164	CCDS649.1, CCDS30752.1, CCDS30753.1	1p31.1	2008-02-05			ENSG00000197568	ENSG00000197568			4906	protein-coding gene	gene with protein product		604372				10444326	Standard	NR_027404		Approved		uc001dfa.3	Q9XRX5	OTTHUMG00000009346	ENST00000359875.5:c.130A>G	1.37:g.70820764A>G	ENSP00000352938:p.Thr44Ala					HHLA3_ENST00000486110.1_3'UTR|HHLA3_ENST00000432224.1_Missense_Mutation_p.T44A|HHLA3_ENST00000531950.1_Missense_Mutation_p.T44A|HHLA3_ENST00000361764.4_Missense_Mutation_p.T44A|HHLA3_ENST00000370940.5_Missense_Mutation_p.T44A	p.T44A	NM_001036645.1	NP_001031722.1	Q9XRX5	HHLA3_HUMAN			1	270	+			44					D3DQ74|Q5VZP2|Q96FH5|Q9XRX4	Missense_Mutation	SNP	ENST00000359875.5	37	c.130A>G	CCDS30753.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.634042	0.29068	.	.	ENSG00000197568	ENST00000361764;ENST00000359875;ENST00000370940;ENST00000531950;ENST00000432224	.	.	.	4.27	1.97	0.26223	.	.	.	.	.	T	0.07324	0.0185	N	0.08118	0	0.09310	N	1	B;B;B	0.19817	0.039;0.008;0.015	B;B;B	0.25614	0.062;0.011;0.016	T	0.34976	-0.9807	8	0.87932	D	0	.	6.0017	0.19525	0.7937:0.0:0.2063:0.0	.	44;44;44	Q9XRX5-2;Q9XRX5-3;Q9XRX5	.;.;HHLA3_HUMAN	A	44	.	ENSP00000352938:T44A	T	+	1	0	HHLA3	70593352	0.595000	0.26857	0.004000	0.12327	0.003000	0.03518	0.744000	0.26245	0.422000	0.26005	-0.280000	0.10049	ACA		0.507	HHLA3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025911.2	NM_007071		10	37	0	0	0	1	0	10	37				
TRIM8	81603	broad.mit.edu	37	10	104404917	104404917	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:104404917C>T	ENST00000302424.7	+	1	665	c.543C>T	c.(541-543)gaC>gaT	p.D181D	RP11-47A8.5_ENST00000607967.1_lincRNA	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	181					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CGGTGTGCGACGTGGAGATCC	0.642																																						ENST00000302424.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(541-543)gaC>gaT		tripartite motif containing 8							14.0	16.0	15.0					10																	104404917		1627	3257	4884	SO:0001819	synonymous_variant	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104404917C>T	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.543C>T	10.37:g.104404917C>T							p.D181D	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	665	+		Colorectal(252;0.122)	181					A6NI31|Q9C028	Silent	SNP	ENST00000302424.7	37	c.543C>T	CCDS31274.1																																																																																				0.642	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		7	27	0	0	0	1	0	7	27				
OBSCN	84033	broad.mit.edu	37	1	228464950	228464950	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:228464950G>A	ENST00000422127.1	+	24	6734	c.6690G>A	c.(6688-6690)gcG>gcA	p.A2230A	OBSCN_ENST00000359599.6_Silent_p.A1077A|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.3_ENST00000602529.1_RNA|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000284548.11_Silent_p.A2230A|OBSCN_ENST00000570156.2_Silent_p.A2605A|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2230	Ig-like 22.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.A2230A(2)|p.A2414A(1)|p.A2513A(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGAGTTCGCGGATCAGGGAG	0.642																																						ENST00000570156.2																			4	Substitution - coding silent(4)	p.A2230A(2)|p.A2414A(1)|p.A2513A(1)	lung(4)	NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(7813-7815)gcG>gcA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							82.0	100.0	94.0					1																	228464950		2188	4282	6470	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228464950G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6690G>A	1.37:g.228464950G>A						OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.A2230A|OBSCN_ENST00000359599.6_Silent_p.A1077A|OBSCN_ENST00000422127.1_Silent_p.A2230A|OBSCN_ENST00000366709.4_5'UTR	p.A2605A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			28	7889	+		Prostate(94;0.0405)	1599			Ig-like 25.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.7815G>A	CCDS58065.1																																																																																				0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	22	0	0	0	1	0	6	22				
UBE2S	27338	broad.mit.edu	37	19	55915684	55915684	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:55915684G>A	ENST00000264552.9	-	3	501	c.314C>T	c.(313-315)gCt>gTt	p.A105V	UBE2S_ENST00000589978.1_Silent_p.G79G|UBE2S_ENST00000592570.1_5'Flank	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	105					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular protein modification process (GO:0006464)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)	anaphase-promoting complex (GO:0005680)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		GCCCAGCTCAGCCGTCCAGTC	0.637																																						ENST00000264552.9																			0				lung(1)	1						c.(313-315)gCt>gTt		ubiquitin-conjugating enzyme E2S							46.0	44.0	45.0					19																	55915684		2203	4300	6503	SO:0001583	missense	27338				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity	g.chr19:55915684G>A	BC004236	CCDS33114.1	19q13.43	2008-02-05				ENSG00000108106		"""Ubiquitin-conjugating enzymes E2"""	17895	protein-coding gene	gene with protein product	"""ubiquitin carrier protein"", ""ubiquitin-conjugating enzyme E2-24 kD"", ""ubiquitin-protein ligase"""	610309				1379239	Standard	NM_014501		Approved	E2-EPF	uc002qkx.1	Q16763		ENST00000264552.9:c.314C>T	19.37:g.55915684G>A	ENSP00000264552:p.Ala105Val					UBE2S_ENST00000589978.1_Silent_p.G79G	p.A105V	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)	3	501	-	Breast(117;0.155)		105					Q9BTC1	Missense_Mutation	SNP	ENST00000264552.9	37	c.314C>T	CCDS33114.1	.	.	.	.	.	.	.	.	.	.	G	34	5.376654	0.95945	.	.	ENSG00000108106	ENST00000264552	T	0.39787	1.06	5.15	5.15	0.70609	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.54565	0.1866	M	0.82193	2.58	0.80722	D	1	P	0.52061	0.95	P	0.46362	0.514	T	0.65154	-0.6237	10	0.87932	D	0	-18.674	16.4902	0.84199	0.0:0.0:1.0:0.0	.	105	Q16763	UBE2S_HUMAN	V	105	ENSP00000264552:A105V	ENSP00000264552:A105V	A	-	2	0	UBE2S	60607496	1.000000	0.71417	0.948000	0.38648	0.991000	0.79684	8.887000	0.92456	2.570000	0.86706	0.650000	0.86243	GCT		0.637	UBE2S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453088.1	NM_014501		10	83	0	0	0	1	0	10	83				
MYLK	4638	broad.mit.edu	37	3	123471338	123471338	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:123471338T>C	ENST00000475616.1	-	2	212	c.213A>G	c.(211-213)caA>caG	p.Q71Q	MYLK_ENST00000359169.1_Silent_p.Q71Q|MYLK_ENST00000346322.5_Silent_p.Q71Q|MYLK_ENST00000360772.3_Silent_p.Q71Q|MYLK_ENST00000360304.3_Silent_p.Q71Q			Q15746	MYLK_HUMAN	myosin light chain kinase	71	Ig-like C2-type 1.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGGTGATGGGTTGCCCGTTTC	0.542																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(211-213)caA>caG		myosin light chain kinase							35.0	34.0	35.0					3																	123471338		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123471338T>C	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.213A>G	3.37:g.123471338T>C						MYLK_ENST00000346322.5_Silent_p.Q71Q|MYLK_ENST00000359169.1_Silent_p.Q71Q|MYLK_ENST00000475616.1_Silent_p.Q71Q|MYLK_ENST00000360304.3_Silent_p.Q71Q	p.Q71Q			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	6	591	-		Lung NSC(201;0.0496)	71			Ig-like C2-type 1.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.213A>G	CCDS46896.1																																																																																				0.542	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		17	43	0	0	0	1	0	17	43				
CLMN	79789	broad.mit.edu	37	14	95679679	95679679	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:95679679C>T	ENST00000298912.4	-	6	598	c.485G>A	c.(484-486)gGc>gAc	p.G162D		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	162	Actin-binding.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TGAGTCTGTGCCCCCTGAGCC	0.552																																						ENST00000298912.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(484-486)gGc>gAc		calmin (calponin-like, transmembrane)							128.0	109.0	115.0					14																	95679679		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95679679C>T	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.485G>A	14.37:g.95679679C>T	ENSP00000298912:p.Gly162Asp						p.G162D	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	6	598	-			162			Actin-binding.		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.485G>A	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790218	0.90367	.	.	ENSG00000165959	ENST00000298912;ENST00000555336;ENST00000555615	D;T;T	0.93366	-3.21;-0.61;-0.67	5.15	5.15	0.70609	Calponin homology domain (1);	0.000000	0.40144	N	0.001170	D	0.91389	0.7283	L	0.37697	1.125	0.80722	D	1	P	0.49090	0.919	P	0.44518	0.452	D	0.92639	0.6123	10	0.72032	D	0.01	.	18.6466	0.91413	0.0:1.0:0.0:0.0	.	162	Q96JQ2	CLMN_HUMAN	D	162;94;94	ENSP00000298912:G162D;ENSP00000451705:G94D;ENSP00000452525:G94D	ENSP00000298912:G162D	G	-	2	0	CLMN	94749432	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.455000	0.60075	2.392000	0.81423	0.655000	0.94253	GGC		0.552	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			26	72	0	0	0	1	0	26	72				
DEF8	54849	broad.mit.edu	37	16	90015943	90015943	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:90015943T>C	ENST00000268676.7	+	2	159	c.70T>C	c.(70-72)Ttg>Ctg	p.L24L	DEF8_ENST00000569453.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000418391.2_Intron|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000563594.1_Intron	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	24					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CAGGACGCTGTTGACTCCGCA	0.677																																						ENST00000268676.7																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(70-72)Ttg>Ctg		differentially expressed in FDCP 8 homolog (mouse)							66.0	65.0	65.0					16																	90015943		2198	4300	6498	SO:0001819	synonymous_variant	54849				intracellular signal transduction		zinc ion binding	g.chr16:90015943T>C	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.70T>C	16.37:g.90015943T>C						DEF8_ENST00000567874.1_Intron|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000563594.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000418391.2_Intron	p.L24L	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	2	159	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	24					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Silent	SNP	ENST00000268676.7	37	c.70T>C	CCDS10989.1																																																																																				0.677	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		33	95	0	0	0	1	0	33	95				
DNAH17	8632	broad.mit.edu	37	17	76568831	76568831	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:76568831A>T	ENST00000585328.1	-	3	615	c.491T>A	c.(490-492)aTt>aAt	p.I164N	DNAH17_ENST00000389840.5_Missense_Mutation_p.I164N	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	164	Stem. {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)			GTGCTCCGGAATAGGCAGCAA	0.587																																						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.(490-492)aTt>aAt		dynein, axonemal, heavy chain 17							47.0	52.0	51.0					17																	76568831		2091	4235	6326	SO:0001583	missense	8632							g.chr17:76568831A>T	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.491T>A	17.37:g.76568831A>T	ENSP00000465516:p.Ile164Asn					DNAH17_ENST00000585328.1_Missense_Mutation_p.I164N	p.I164N					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		3	615	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.491T>A		.	.	.	.	.	.	.	.	.	.	A	13.92	2.381574	0.42207	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.25579	1.79	4.41	3.33	0.38152	.	.	.	.	.	T	0.26702	0.0653	L	0.36672	1.1	0.30430	N	0.777281	.	.	.	.	.	.	T	0.19484	-1.0304	7	0.87932	D	0	.	9.4088	0.38477	0.9133:0.0:0.0867:0.0	.	.	.	.	N	164	ENSP00000374490:I164N	ENSP00000300671:I164N	I	-	2	0	DNAH17	74080426	0.949000	0.32298	0.925000	0.36789	0.618000	0.37518	7.998000	0.88491	0.733000	0.32492	0.459000	0.35465	ATT		0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	18	0	0	0	1	0	4	18				
POLD1	5424	broad.mit.edu	37	19	50906792	50906792	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:50906792A>G	ENST00000440232.2	+	10	1233	c.1180A>G	c.(1180-1182)Acc>Gcc	p.T394A	POLD1_ENST00000599857.1_Missense_Mutation_p.T394A|POLD1_ENST00000595904.1_Missense_Mutation_p.T394A	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	394					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGACGTGATCACCGGTTACAA	0.612								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1180-1182)Acc>Gcc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							255.0	218.0	231.0					19																	50906792		2203	4300	6503	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50906792A>G		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1180A>G	19.37:g.50906792A>G	ENSP00000406046:p.Thr394Ala					POLD1_ENST00000595904.1_Missense_Mutation_p.T394A|POLD1_ENST00000599857.1_Missense_Mutation_p.T394A	p.T394A	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	10	1233	+		all_neural(266;0.0571)	394					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.1180A>G	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.894934	0.72639	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.18960	2.18	3.84	3.84	0.44239	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	M	0.76170	2.325	0.80722	D	1	P;D	0.64830	0.874;0.994	P;D	0.69479	0.824;0.964	T	0.43360	-0.9396	10	0.62326	D	0.03	-28.1127	12.0155	0.53311	1.0:0.0:0.0:0.0	.	394;394	E7EVW0;P28340	.;DPOD1_HUMAN	A	394;395	ENSP00000406046:T394A	ENSP00000366129:T395A	T	+	1	0	POLD1	55598604	1.000000	0.71417	0.991000	0.47740	0.829000	0.46940	7.870000	0.87175	1.727000	0.51537	0.459000	0.35465	ACC		0.612	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			9	321	0	0	0	1	0	9	321				
URB2	9816	broad.mit.edu	37	1	229790109	229790109	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:229790109G>A	ENST00000258243.2	+	9	4487	c.4351G>A	c.(4351-4353)Gcc>Acc	p.A1451T		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1451						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ATTTATGGTGGCCCAGTACGT	0.483																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(4351-4353)Gcc>Acc		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							283.0	236.0	252.0					1																	229790109		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229790109G>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4351G>A	1.37:g.229790109G>A	ENSP00000258243:p.Ala1451Thr						p.A1451T	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			9	4487	+			1451					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.4351G>A	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338968	0.81911	.	.	ENSG00000135763	ENST00000258243;ENST00000434387	T;T	0.46063	0.88;0.88	4.95	4.01	0.46588	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, C-terminal (1);	0.102726	0.64402	D	0.000003	T	0.60340	0.2261	M	0.74258	2.255	0.58432	D	0.999992	D	0.69078	0.997	D	0.64506	0.926	T	0.62378	-0.6867	9	.	.	.	-13.0701	12.5765	0.56367	0.0:0.0:0.6806:0.3194	.	1451	Q14146	URB2_HUMAN	T	1451;67	ENSP00000258243:A1451T;ENSP00000395107:A67T	.	A	+	1	0	URB2	227856732	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.709000	0.54853	1.155000	0.42497	0.650000	0.86243	GCC		0.483	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		5	87	0	0	0	1	0	5	87				
PRC1	9055	broad.mit.edu	37	15	91522491	91522491	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:91522491T>C	ENST00000361188.5	-	8	2215	c.1004A>G	c.(1003-1005)gAt>gGt	p.D335G	Y_RNA_ENST00000363272.1_RNA|PRC1_ENST00000442656.2_Missense_Mutation_p.D294G|PRC1_ENST00000361919.3_Missense_Mutation_p.D335G|PRC1_ENST00000394249.3_Missense_Mutation_p.D335G|PRC1-AS1_ENST00000554388.1_RNA					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					AATCTCAGCATCGTGGAGCTG	0.403																																						ENST00000361188.5																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(1003-1005)gAt>gGt		protein regulator of cytokinesis 1							115.0	115.0	115.0					15																	91522491		2198	4298	6496	SO:0001583	missense	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91522491T>C	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1004A>G	15.37:g.91522491T>C	ENSP00000354679:p.Asp335Gly					PRC1_ENST00000361919.3_Missense_Mutation_p.D335G|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Missense_Mutation_p.D294G|PRC1_ENST00000394249.3_Missense_Mutation_p.D335G	p.D335G			O43663	PRC1_HUMAN			8	2215	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		335			Dimerization.			Missense_Mutation	SNP	ENST00000361188.5	37	c.1004A>G	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923625	0.73213	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000442656;ENST00000556982	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.55	5.55	0.83447	.	0.049788	0.85682	D	0.000000	T	0.61850	0.2380	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.79108	0.976;0.983;0.987;0.992	T	0.66488	-0.5911	10	0.87932	D	0	.	15.517	0.75833	0.0:0.0:0.0:1.0	.	294;335;335;335	O43663-3;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	G	335;335;335;294;109	ENSP00000377793:D335G;ENSP00000354618:D335G;ENSP00000354679:D335G;ENSP00000409549:D294G	ENSP00000354679:D335G	D	-	2	0	PRC1	89323495	1.000000	0.71417	0.895000	0.35142	0.195000	0.23768	7.472000	0.80996	2.326000	0.78906	0.533000	0.62120	GAT		0.403	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		25	72	0	0	0	1	0	25	72				
PTF1A	256297	broad.mit.edu	37	10	23481613	23481613	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:23481613T>C	ENST00000376504.3	+	1	358	c.154T>C	c.(154-156)Ttc>Ctc	p.F52L		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	52					amacrine cell differentiation (GO:0035881)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|exocrine pancreas development (GO:0031017)|neuron fate commitment (GO:0048663)|pancreas development (GO:0031016)|regulation of neural retina development (GO:0061074)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|retinoic acid receptor signaling pathway (GO:0048384)|tissue development (GO:0009888)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CGAGGTGGAGTTCCTTAGCCA	0.697																																						ENST00000376504.3																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						c.(154-156)Ttc>Ctc		pancreas specific transcription factor, 1a							39.0	34.0	36.0					10																	23481613		2203	4300	6503	SO:0001583	missense	256297				endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex		g.chr10:23481613T>C	BK000272	CCDS7143.1	10p12.31	2013-05-21			ENSG00000168267	ENSG00000168267		"""Basic helix-loop-helix proteins"""	23734	protein-coding gene	gene with protein product		607194				8703005	Standard	NM_178161		Approved	PTF1-p48, bHLHa29	uc001irp.3	Q7RTS3	OTTHUMG00000017815	ENST00000376504.3:c.154T>C	10.37:g.23481613T>C	ENSP00000365687:p.Phe52Leu						p.F52L	NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN			1	358	+			52					Q9HC25	Missense_Mutation	SNP	ENST00000376504.3	37	c.154T>C	CCDS7143.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.731861	0.48939	.	.	ENSG00000168267	ENST00000376504	D	0.97352	-4.35	2.96	1.76	0.24704	.	0.065742	0.64402	N	0.000010	D	0.92093	0.7494	L	0.29908	0.895	0.40070	D	0.976003	B	0.02656	0.0	B	0.04013	0.001	D	0.84478	0.0603	10	0.29301	T	0.29	-9.7345	7.8013	0.29176	0.0:0.1083:0.0:0.8917	.	52	Q7RTS3	PTF1A_HUMAN	L	52	ENSP00000365687:F52L	ENSP00000365687:F52L	F	+	1	0	PTF1A	23521619	1.000000	0.71417	0.998000	0.56505	0.813000	0.45954	2.640000	0.46579	0.223000	0.20920	0.260000	0.18958	TTC		0.697	PTF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047210.1	NM_178161		6	25	0	0	0	1	0	6	25				
APOB	338	broad.mit.edu	37	2	21242616	21242616	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:21242616T>C	ENST00000233242.1	-	19	3105	c.2978A>G	c.(2977-2979)tAt>tGt	p.Y993C		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	993					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)					GGTCAGCGGATAGTAGGAGGC	0.542																																						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.(2977-2979)tAt>tGt		apolipoprotein B	Atorvastatin(DB01076)						92.0	81.0	85.0					2																	21242616		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.chr2:21242616T>C	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.2978A>G	2.37:g.21242616T>C	ENSP00000233242:p.Tyr993Cys						p.Y993C	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			19	3105	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		993					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2978A>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745161	0.49151	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.17854	2.25	5.23	2.71	0.32032	Lipid transport protein, beta-sheet shell (1);Lipid transport, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.337163	0.25660	N	0.029159	T	0.35068	0.0919	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.03818	-1.1001	10	0.72032	D	0.01	.	6.6126	0.22759	0.2462:0.0:0.2569:0.4969	.	993	P04114	APOB_HUMAN	C	993	ENSP00000233242:Y993C	ENSP00000233242:Y993C	Y	-	2	0	APOB	21096121	0.818000	0.29161	0.677000	0.29947	0.680000	0.39746	0.171000	0.16685	0.346000	0.23899	0.533000	0.62120	TAT		0.542	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			10	35	0	0	0	1	0	10	35				
ZXDA	7789	broad.mit.edu	37	X	57935379	57935379	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:57935379C>T	ENST00000358697.4	-	1	1688	c.1476G>A	c.(1474-1476)acG>acA	p.T492T		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	492	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GTTCGGCCCTCGTGAAAGATT	0.547																																						ENST00000358697.4																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(1474-1476)acG>acA		zinc finger, X-linked, duplicated A							72.0	64.0	67.0					X																	57935379		2203	4300	6503	SO:0001819	synonymous_variant	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935379C>T	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1476G>A	X.37:g.57935379C>T							p.T492T	NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN			1	1688	-			492			Required for interaction with ZXDC.		Q9UJP7	Silent	SNP	ENST00000358697.4	37	c.1476G>A	CCDS14376.1																																																																																				0.547	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		3	46	0	0	0	1	0	3	46				
DEPDC1B	55789	broad.mit.edu	37	5	59895032	59895032	+	Missense_Mutation	SNP	C	C	T	rs150780889		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:59895032C>T	ENST00000265036.5	-	10	1365	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H	DEPDC1B_ENST00000545085.1_Intron|DEPDC1B_ENST00000453022.2_Intron	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	433					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				ACTAATTTGACGGCAAAATGA	0.393													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15024	0.0		0.0	False		,,,				2504	0.0					ENST00000265036.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17						c.(1297-1299)cGt>cAt		DEP domain containing 1B		C	,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	82.0	84.0	83.0		,1298	3.8	1.0	5	dbSNP_134	83	1,8599	2.2+/-6.3	0,1,4299	yes	intron,missense	DEPDC1B	NM_001145208.1,NM_018369.2	,29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	,benign	,433/530	59895032	3,13003	2203	4300	6503	SO:0001583	missense	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59895032C>T	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.1298G>A	5.37:g.59895032C>T	ENSP00000265036:p.Arg433His					DEPDC1B_ENST00000545085.1_Intron|DEPDC1B_ENST00000453022.2_Intron	p.R433H	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN			10	1365	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	433					A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	ENST00000265036.5	37	c.1298G>A	CCDS3977.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	13.71	2.318606	0.40996	4.54E-4	1.16E-4	ENSG00000035499	ENST00000265036	T	0.32272	1.46	5.53	3.75	0.43078	.	0.357302	0.34507	N	0.003911	T	0.15132	0.0365	N	0.14661	0.345	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.08953	-1.0697	9	.	.	.	-6.5964	6.8984	0.24269	0.0:0.6128:0.0:0.3872	.	433	Q8WUY9	DEP1B_HUMAN	H	433	ENSP00000265036:R433H	.	R	-	2	0	DEPDC1B	59930789	0.979000	0.34478	0.999000	0.59377	0.998000	0.95712	1.766000	0.38491	0.703000	0.31848	0.591000	0.81541	CGT		0.393	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		13	53	0	0	0	1	0	13	53				
USP15	9958	broad.mit.edu	37	12	62786084	62786084	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:62786084A>G	ENST00000280377.5	+	18	2395	c.2337A>G	c.(2335-2337)aaA>aaG	p.K779K	USP15_ENST00000393654.3_Silent_p.K754K|USP15_ENST00000353364.3_Silent_p.K750K	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	779	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TGGAGTATAAACCTCCTAAAA	0.308																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(2335-2337)aaA>aaG		ubiquitin specific peptidase 15							36.0	40.0	39.0					12																	62786084		2201	4283	6484	SO:0001819	synonymous_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62786084A>G	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2337A>G	12.37:g.62786084A>G						USP15_ENST00000393654.3_Silent_p.K754K|USP15_ENST00000353364.3_Silent_p.K750K	p.K779K	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	18	2395	+			779					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP	ENST00000280377.5	37	c.2337A>G	CCDS58251.1																																																																																				0.308	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		6	35	0	0	0	1	0	6	35				
ANO5	203859	broad.mit.edu	37	11	22283690	22283690	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:22283690A>G	ENST00000324559.8	+	16	1963	c.1646A>G	c.(1645-1647)tAc>tGc	p.Y549C	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	549					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTCGAACATACCAGGAGTAT	0.348																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1645-1647)tAc>tGc		anoctamin 5							139.0	135.0	137.0					11																	22283690		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22283690A>G	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1646A>G	11.37:g.22283690A>G	ENSP00000315371:p.Tyr549Cys					CTD-3064C13.1_ENST00000526935.1_RNA	p.Y549C	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			16	1963	+			549						Missense_Mutation	SNP	ENST00000324559.8	37	c.1646A>G	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.407899	0.83340	.	.	ENSG00000171714	ENST00000324559	T	0.62941	-0.01	6.17	6.17	0.99709	.	0.237095	0.49916	D	0.000137	T	0.70727	0.3257	L	0.44542	1.39	0.40965	D	0.984659	D	0.60575	0.988	P	0.59288	0.855	T	0.73528	-0.3954	10	0.66056	D	0.02	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	549	Q75V66	ANO5_HUMAN	C	549	ENSP00000315371:Y549C	ENSP00000315371:Y549C	Y	+	2	0	ANO5	22240266	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.300000	0.96151	2.371000	0.80710	0.533000	0.62120	TAC		0.348	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		4	81	0	0	0	1	0	4	81				
SNPH	9751	broad.mit.edu	37	20	1286147	1286147	+	Missense_Mutation	SNP	C	C	T	rs151069955	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:1286147C>T	ENST00000381873.3	+	6	1170	c.934C>T	c.(934-936)Cgt>Tgt	p.R312C	SNPH_ENST00000381867.1_Missense_Mutation_p.R356C	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	312					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CATGCAGGAGCGTGCCATCCA	0.622													C|||	2	0.000399361	0.0	0.0	5008	,	,		19594	0.002		0.0	False		,,,				2504	0.0					ENST00000381867.1																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1066-1068)Cgt>Tgt		syntaphilin		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	85.0	79.0	81.0		934	3.7	1.0	20	dbSNP_134	81	0,8600		0,0,4300	no	missense	SNPH	NM_014723.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	312/495	1286147	1,13005	2203	4300	6503	SO:0001583	missense	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1286147C>T		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.934C>T	20.37:g.1286147C>T	ENSP00000371297:p.Arg312Cys					SNPH_ENST00000381873.3_Missense_Mutation_p.R312C	p.R356C			O15079	SNPH_HUMAN			7	1708	+			312					Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	37	c.1066C>T	CCDS13012.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.61	1.689434	0.29962	2.27E-4	0.0	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.6	3.66	0.41972	.	0.738097	0.12755	N	0.441851	T	0.36880	0.0983	N	0.14661	0.345	0.42377	D	0.992471	B;D	0.64830	0.011;0.994	B;P	0.47015	0.004;0.534	T	0.19451	-1.0305	9	0.49607	T	0.09	-7.9568	11.9739	0.53081	0.0:0.9153:0.0:0.0847	.	356;312	O15079-2;O15079	.;SNPH_HUMAN	C	312;356	.	ENSP00000371291:R356C	R	+	1	0	SNPH	1234147	0.996000	0.38824	0.986000	0.45419	0.986000	0.74619	1.927000	0.40094	1.166000	0.42689	0.561000	0.74099	CGT		0.622	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		25	103	0	0	0	1	0	25	103				
STRBP	55342	broad.mit.edu	37	9	125890530	125890530	+	Silent	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:125890530T>A	ENST00000348403.5	-	18	2334	c.1905A>T	c.(1903-1905)ggA>ggT	p.G635G	STRBP_ENST00000447404.2_Silent_p.G635G|STRBP_ENST00000360998.3_Silent_p.G621G	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	635					cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CATATGGTGTTCCATAGCCTA	0.512																																						ENST00000447404.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						c.(1903-1905)ggA>ggT		spermatid perinuclear RNA binding protein							182.0	145.0	158.0					9																	125890530		2203	4300	6503	SO:0001819	synonymous_variant	55342				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr9:125890530T>A	AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.1905A>T	9.37:g.125890530T>A						STRBP_ENST00000348403.5_Silent_p.G635G|STRBP_ENST00000360998.3_Silent_p.G621G	p.G635G			Q96SI9	STRBP_HUMAN			17	2209	-			635					Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Silent	SNP	ENST00000348403.5	37	c.1905A>T	CCDS6851.1																																																																																				0.512	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1			17	49	0	0	0	1	0	17	49				
MPO	4353	broad.mit.edu	37	17	56355299	56355299	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:56355299C>T	ENST00000225275.3	-	7	1269	c.1093G>A	c.(1093-1095)Gtc>Atc	p.V365I	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000340482.3_Missense_Mutation_p.V397I	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	365					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CGCTGGTTGACGGCCAGCAGC	0.657																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(1189-1191)Gtc>Atc		myeloperoxidase	Cefdinir(DB00535)						63.0	59.0	60.0					17																	56355299		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56355299C>T		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1093G>A	17.37:g.56355299C>T	ENSP00000225275:p.Val365Ile					MPO_ENST00000225275.3_Missense_Mutation_p.V365I|MPO_ENST00000578493.1_5'UTR	p.V397I			P05164	PERM_HUMAN			6	1365	-			365					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.1189G>A	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149199	0.37923	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.69561	-0.41;-0.41	5.32	3.3	0.37823	.	0.330853	0.32231	N	0.006383	T	0.59032	0.2164	L	0.51853	1.615	0.45390	D	0.998375	B	0.18610	0.029	B	0.19391	0.025	T	0.53746	-0.8395	10	0.38643	T	0.18	-34.7009	11.3398	0.49527	0.0:0.8505:0.0:0.1495	.	365	P05164	PERM_HUMAN	I	397;365	ENSP00000344419:V397I;ENSP00000225275:V365I	ENSP00000225275:V365I	V	-	1	0	MPO	53710298	0.999000	0.42202	0.580000	0.28601	0.276000	0.26787	4.052000	0.57420	0.628000	0.30357	0.561000	0.74099	GTC		0.657	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			26	65	0	0	0	1	0	26	65				
FAM135B	51059	broad.mit.edu	37	8	139145030	139145030	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:139145030C>T	ENST00000395297.1	-	20	4197	c.4027G>A	c.(4027-4029)Gca>Aca	p.A1343T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1343										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATCATTTCTGCATAAACTGGC	0.488										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(4027-4029)Gca>Aca		family with sequence similarity 135, member B							146.0	151.0	150.0					8																	139145030		1952	4145	6097	SO:0001583	missense	51059							g.chr8:139145030C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4027G>A	8.37:g.139145030C>T	ENSP00000378710:p.Ala1343Thr	HNSCC(54;0.14)					p.A1343T	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		20	4197	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1343					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.4027G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673680	0.47781	.	.	ENSG00000147724	ENST00000395297	T	0.14266	2.52	5.74	5.74	0.90152	.	0.120568	0.56097	D	0.000029	T	0.07548	0.0190	N	0.05383	-0.06	0.36604	D	0.874845	P	0.43750	0.816	B	0.39840	0.311	T	0.40961	-0.9535	10	0.26408	T	0.33	-19.3604	12.2487	0.54585	0.0:0.923:0.0:0.077	.	1343	Q49AJ0	F135B_HUMAN	T	1343	ENSP00000378710:A1343T	ENSP00000378710:A1343T	A	-	1	0	FAM135B	139214212	1.000000	0.71417	0.847000	0.33407	0.994000	0.84299	3.042000	0.49815	2.723000	0.93209	0.655000	0.94253	GCA		0.488	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		7	302	0	0	0	1	0	7	302				
BUD13	84811	broad.mit.edu	37	11	116627929	116627929	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:116627929T>C	ENST00000260210.4	-	9	1722	c.1699A>G	c.(1699-1701)Agt>Ggt	p.S567G	BUD13_ENST00000375445.3_Missense_Mutation_p.S433G	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	567					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GCTGGACCACTGTAGCGAGGT	0.423																																						ENST00000260210.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22						c.(1699-1701)Agt>Ggt		BUD13 homolog (S. cerevisiae)							78.0	75.0	76.0					11																	116627929		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116627929T>C	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1699A>G	11.37:g.116627929T>C	ENSP00000260210:p.Ser567Gly					BUD13_ENST00000375445.3_Missense_Mutation_p.S433G	p.S567G	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	9	1722	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	567					A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.1699A>G	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.721114	0.68959	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.18960	2.21;2.18	6.04	6.04	0.98038	.	0.426100	0.32343	N	0.006225	T	0.33059	0.0850	L	0.58101	1.795	0.43608	D	0.995976	B;B	0.30511	0.063;0.282	B;B	0.40982	0.138;0.345	T	0.08638	-1.0712	10	0.87932	D	0	-1.971	16.5757	0.84637	0.0:0.0:0.0:1.0	.	433;567	Q9BRD0-2;Q9BRD0	.;BUD13_HUMAN	G	433;567	ENSP00000364594:S433G;ENSP00000260210:S567G	ENSP00000260210:S567G	S	-	1	0	BUD13	116133139	1.000000	0.71417	0.917000	0.36280	0.931000	0.56810	5.721000	0.68477	2.317000	0.78254	0.523000	0.50628	AGT		0.423	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		12	31	0	0	0	1	0	12	31				
SETDB1	9869	broad.mit.edu	37	1	150936071	150936071	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:150936071A>G	ENST00000271640.5	+	20	3713	c.3523A>G	c.(3523-3525)Att>Gtt	p.I1175V	RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000345896.4_5'Flank|SETDB1_ENST00000368969.4_Missense_Mutation_p.I1175V	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1175	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AACCCATGGGATTGCAATTAA	0.507																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(3523-3525)Att>Gtt		SET domain, bifurcated 1							189.0	189.0	189.0					1																	150936071		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150936071A>G	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3523A>G	1.37:g.150936071A>G	ENSP00000271640:p.Ile1175Val					SETDB1_ENST00000368969.4_Missense_Mutation_p.I1175V	p.I1175V	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		20	3713	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		1175			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.3523A>G	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	A	19.84	3.901927	0.72754	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;D	0.81821	-1.54;-1.54;-1.54	5.88	5.88	0.94601	SET domain (3);	0.041945	0.85682	D	0.000000	T	0.68302	0.2986	L	0.43598	1.365	0.80722	D	1	P;B;P	0.43477	0.808;0.428;0.808	B;B;B	0.42882	0.401;0.07;0.401	T	0.68708	-0.5337	10	0.24483	T	0.36	.	16.2987	0.82793	1.0:0.0:0.0:0.0	.	1175;1175;1175	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	V	1175	ENSP00000271640:I1175V;ENSP00000357965:I1175V;ENSP00000432348:I1175V	ENSP00000271640:I1175V	I	+	1	0	SETDB1	149202695	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	5.667000	0.68067	2.257000	0.74773	0.459000	0.35465	ATT		0.507	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			71	287	0	0	0	1	0	71	287				
GRIN3A	116443	broad.mit.edu	37	9	104341488	104341488	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:104341488T>C	ENST00000361820.3	-	7	3521	c.2921A>G	c.(2920-2922)cAc>cGc	p.H974R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	974	PPP2CB binding site. {ECO:0000250}.				calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CTGGCTGGTGTGGAGCCAGTA	0.473																																						ENST00000361820.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(2920-2922)cAc>cGc		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						202.0	158.0	173.0					9																	104341488		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104341488T>C		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2921A>G	9.37:g.104341488T>C	ENSP00000355155:p.His974Arg						p.H974R	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			7	3521	-		Acute lymphoblastic leukemia(62;0.0568)	974			PPP2CB binding site (By similarity).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.2921A>G	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482903	0.84747	.	.	ENSG00000198785	ENST00000361820	T	0.11604	2.76	5.28	5.28	0.74379	.	0.058842	0.64402	D	0.000003	T	0.33147	0.0853	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.04229	-1.0967	10	0.33141	T	0.24	.	15.5004	0.75695	0.0:0.0:0.0:1.0	.	974	Q8TCU5	NMD3A_HUMAN	R	974	ENSP00000355155:H974R	ENSP00000355155:H974R	H	-	2	0	GRIN3A	103381309	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.622000	0.83099	2.124000	0.65301	0.482000	0.46254	CAC		0.473	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			22	73	0	0	0	1	0	22	73				
TNFRSF6B	8771	broad.mit.edu	37	20	62328129	62328129	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:62328129G>A	ENST00000369996.1	+	1	109	c.9G>A	c.(7-9)gcG>gcA	p.A3A	ARFRP1_ENST00000485858.1_5'Flank|RTEL1_ENST00000318100.4_Missense_Mutation_p.A1306T|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A1306T	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	3					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CCATGAGGGCGCTGGAGGGGC	0.697																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(3916-3918)Gct>Act		regulator of telomere elongation helicase 1							14.0	13.0	13.0					20																	62328129		2145	4244	6389	SO:0001819	synonymous_variant	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62328129G>A	AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.9G>A	20.37:g.62328129G>A						RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A1306T|TNFRSF6B_ENST00000369996.1_Silent_p.A3A	p.A1306T			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		36	4743	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		0						Missense_Mutation	SNP	ENST00000369996.1	37	c.3916G>A	CCDS13532.1	.	.	.	.	.	.	.	.	.	.	G	8.457	0.854309	0.17106	.	.	ENSG00000258366	ENST00000318100	D	0.82711	-1.64	1.66	-3.33	0.04958	.	1.398720	0.05273	N	0.517908	T	0.53029	0.1771	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.52358	-0.8586	7	0.02654	T	1	-1.0265	1.7643	0.02998	0.283:0.1355:0.4452:0.1364	.	.	.	.	T	1306	ENSP00000322287:A1306T	ENSP00000322287:A1306T	A	+	1	0	AL353715.1	61798573	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.538000	0.00938	-1.239000	0.02532	-0.448000	0.05591	GCT		0.697	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			6	7	0	0	0	1	0	6	7				
KRT3	3850	broad.mit.edu	37	12	53189550	53189550	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:53189550A>G	ENST00000417996.2	-	1	351	c.277T>C	c.(277-279)Tat>Cat	p.Y93H	KRT3_ENST00000309505.3_Missense_Mutation_p.Y93H	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	93	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						ccacctccatagccacctgca	0.642																																						ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(277-279)Tat>Cat		keratin 3							122.0	160.0	147.0					12																	53189550		2203	4300	6503	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53189550A>G		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.277T>C	12.37:g.53189550A>G	ENSP00000413479:p.Tyr93His					KRT3_ENST00000309505.3_Missense_Mutation_p.Y93H	p.Y93H	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			1	351	-			93			Gly-rich.|Head.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.277T>C	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	a	0.657	-0.807251	0.02819	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.85556	-2.0;-2.0	2.6	1.38	0.22167	.	.	.	.	.	T	0.81039	0.4740	M	0.66297	2.02	0.19575	N	0.999961	P	0.45531	0.86	B	0.44315	0.446	T	0.66984	-0.5785	9	0.16420	T	0.52	.	4.6452	0.12568	0.8406:0.0:0.1594:0.0	.	93	P12035	K2C3_HUMAN	H	93	ENSP00000413479:Y93H;ENSP00000312206:Y93H	ENSP00000312206:Y93H	Y	-	1	0	KRT3	51475817	0.067000	0.21026	0.729000	0.30791	0.357000	0.29423	1.664000	0.37439	0.365000	0.24400	0.413000	0.27773	TAT		0.642	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		14	238	0	0	0	1	0	14	238				
SLC29A4	222962	broad.mit.edu	37	7	5330489	5330489	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:5330489A>G	ENST00000396872.3	+	3	457	c.296A>G	c.(295-297)tAc>tGc	p.Y99C	SLC29A4_ENST00000297195.4_Missense_Mutation_p.Y99C|SLC29A4_ENST00000406453.3_Missense_Mutation_p.Y99C			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	99					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	CATCACAAGTACCCAGGTGGG	0.627																																						ENST00000396872.2																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(295-297)tAc>tGc		solute carrier family 29 (equilibrative nucleoside transporter), member 4							79.0	68.0	71.0					7																	5330489		2203	4300	6503	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5330489A>G	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.296A>G	7.37:g.5330489A>G	ENSP00000380081:p.Tyr99Cys					SLC29A4_ENST00000406453.3_Missense_Mutation_p.Y99C|SLC29A4_ENST00000297195.4_Missense_Mutation_p.Y99C	p.Y99C	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	3	457	+		Ovarian(82;0.0175)	99					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.296A>G	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	.	16.23	3.065465	0.55432	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	4.15	1.57	0.23409	Major facilitator superfamily domain, general substrate transporter (1);	0.071977	0.56097	D	0.000021	T	0.64148	0.2572	M	0.84585	2.705	0.44985	D	0.998004	D;D	0.76494	0.997;0.999	P;P	0.62649	0.847;0.905	T	0.63328	-0.6662	10	0.87932	D	0	-18.1052	7.7143	0.28696	0.6621:0.0:0.0:0.3379	.	99;99	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	C	99	ENSP00000406803:Y99C;ENSP00000380081:Y99C;ENSP00000413271:Y99C;ENSP00000297195:Y99C;ENSP00000385845:Y99C	ENSP00000297195:Y99C	Y	+	2	0	SLC29A4	5297015	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.040000	0.57333	0.022000	0.15160	0.454000	0.30748	TAC		0.627	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		31	89	0	0	0	1	0	31	89				
MACC1	346389	broad.mit.edu	37	7	20198916	20198916	+	Silent	SNP	C	C	T	rs28637443	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:20198916C>T	ENST00000400331.5	-	5	1376	c.1068G>A	c.(1066-1068)ccG>ccA	p.P356P	MACC1_ENST00000589011.1_Silent_p.P356P|MACC1_ENST00000332878.4_Silent_p.P356P	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	356					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CAGCTGGTGACGGAAGAGCTT	0.403													C|||	8	0.00159744	0.0061	0.0	5008	,	,		19225	0.0		0.0	False		,,,				2504	0.0					ENST00000400331.5																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(1066-1068)ccG>ccA		metastasis associated in colon cancer 1		C		25,4381	30.8+/-60.4	1,23,2179	60.0	55.0	56.0		1068	-3.2	0.0	7	dbSNP_125	56	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MACC1	NM_182762.3		1,25,6477	TT,TC,CC		0.0233,0.5674,0.2076		356/853	20198916	27,12979	2203	4300	6503	SO:0001819	synonymous_variant	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20198916C>T		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1068G>A	7.37:g.20198916C>T						MACC1_ENST00000332878.4_Silent_p.P356P|MACC1_ENST00000589011.1_Silent_p.P356P	p.P356P	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN			5	1376	-			356					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Silent	SNP	ENST00000400331.5	37	c.1068G>A	CCDS5369.1																																																																																				0.403	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		19	43	0	0	0	1	0	19	43				
OR8B3	390271	broad.mit.edu	37	11	124266967	124266967	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:124266967T>C	ENST00000354597.3	-	1	297	c.281A>G	c.(280-282)tAt>tGt	p.Y94C		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GCACCCAACATAGGAGATAAT	0.368																																						ENST00000354597.3																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(280-282)tAt>tGt		olfactory receptor, family 8, subfamily B, member 3							93.0	94.0	94.0					11																	124266967		2201	4299	6500	SO:0001583	missense	390271				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124266967T>C	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.281A>G	11.37:g.124266967T>C	ENSP00000346611:p.Tyr94Cys						p.Y94C	NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	297	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	94					Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	c.281A>G	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	10.57	1.388080	0.25118	.	.	ENSG00000196661	ENST00000354597	T	0.00330	8.08	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.119890	0.38111	N	0.001804	T	0.01320	0.0043	H	0.96833	3.89	0.40010	D	0.975273	D	0.89917	1.0	D	0.79108	0.992	T	0.36432	-0.9748	10	0.87932	D	0	.	12.6987	0.57018	0.0:0.0:0.0:1.0	.	94	Q8NGG8	OR8B3_HUMAN	C	94	ENSP00000346611:Y94C	ENSP00000346611:Y94C	Y	-	2	0	OR8B3	123772177	0.000000	0.05858	0.895000	0.35142	0.010000	0.07245	0.286000	0.18902	1.815000	0.52974	0.519000	0.50382	TAT		0.368	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		28	63	0	0	0	1	0	28	63				
CFHR5	81494	broad.mit.edu	37	1	196963354	196963354	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:196963354T>C	ENST00000256785.4	+	4	684	c.575T>C	c.(574-576)tTt>tCt	p.F192S	CFHR5_ENST00000367414.5_Missense_Mutation_p.F216S			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	192	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGTTACCAATTTGGGTGGTCA	0.323																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(646-648)tTt>tCt		complement factor H-related 5							92.0	103.0	100.0					1																	196963354		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196963354T>C	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.575T>C	1.37:g.196963354T>C	ENSP00000256785:p.Phe192Ser					CFHR5_ENST00000256785.4_Missense_Mutation_p.F192S	p.F216S	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			4	703	+			192		N -> S (in a breast cancer sample; somatic mutation).	Sushi 4.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.647T>C	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.167999	0.38315	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.61980	0.06;0.06	3.81	3.81	0.43845	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.71728	0.3374	M	0.71920	2.185	0.21355	N	0.999718	D	0.89917	1.0	D	0.79784	0.993	T	0.60944	-0.7162	9	0.07644	T	0.81	.	9.2585	0.37597	0.0:0.0:0.0:1.0	.	192	Q9BXR6	FHR5_HUMAN	S	216;192	ENSP00000356384:F216S;ENSP00000256785:F192S	ENSP00000256785:F192S	F	+	2	0	CFHR5	195229977	1.000000	0.71417	0.886000	0.34754	0.121000	0.20230	2.372000	0.44257	1.505000	0.48720	0.372000	0.22366	TTT		0.323	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		36	108	0	0	0	1	0	36	108				
GOLGA3	2802	broad.mit.edu	37	12	133363304	133363304	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:133363304C>T	ENST00000450791.2	-	13	3064	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K	GOLGA3_ENST00000545875.1_Missense_Mutation_p.E961K|GOLGA3_ENST00000537452.1_Missense_Mutation_p.E961K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E961K|GOLGA3_ENST00000204726.3_Missense_Mutation_p.E961K			Q08378	GOGA3_HUMAN	golgin A3	961					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGCAACTCTTCGATTTGTTTC	0.637																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2881-2883)Gaa>Aaa		golgin A3							149.0	143.0	145.0					12																	133363304		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133363304C>T	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2881G>A	12.37:g.133363304C>T	ENSP00000410378:p.Glu961Lys					GOLGA3_ENST00000545875.1_Missense_Mutation_p.E961K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E961K|GOLGA3_ENST00000450791.2_Missense_Mutation_p.E961K|GOLGA3_ENST00000537452.1_Missense_Mutation_p.E961K	p.E961K	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	14	3439	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	961					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.2881G>A	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022544	0.75275	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.34667	1.69;1.69;1.67;1.35;1.35	5.01	5.01	0.66863	.	0.045975	0.85682	D	0.000000	T	0.57873	0.2083	M	0.72894	2.215	0.80722	D	1	D;D;D	0.71674	0.996;0.996;0.998	P;P;P	0.61658	0.737;0.737;0.892	T	0.61402	-0.7070	10	0.54805	T	0.06	.	18.3106	0.90199	0.0:1.0:0.0:0.0	.	961;961;961	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	K	961	ENSP00000204726:E961K;ENSP00000410378:E961K;ENSP00000409303:E961K;ENSP00000442143:E961K;ENSP00000442603:E961K	ENSP00000204726:E961K	E	-	1	0	GOLGA3	131873377	1.000000	0.71417	0.342000	0.25602	0.085000	0.17905	5.754000	0.68743	2.324000	0.78689	0.460000	0.39030	GAA		0.637	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		10	270	0	0	0	1	0	10	270				
HOXA4	3201	broad.mit.edu	37	7	27170286	27170286	+	Missense_Mutation	SNP	A	A	G	rs144521145		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:27170286A>G	ENST00000360046.5	-	1	132	c.67T>C	c.(67-69)Tac>Cac	p.Y23H	HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS2_ENST00000517550.1_RNA|HOXA3_ENST00000521401.1_Intron|HOXA4_ENST00000428284.2_Missense_Mutation_p.Y23H	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	23	Pro-rich (part of the transcriptional activation domain).				anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						TGCTGCGCGTACTCCTCGAAG	0.607																																						ENST00000360046.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						c.(67-69)Tac>Cac		homeobox A4		A	HIS/TYR	0,4406		0,0,2203	15.0	15.0	15.0		67	4.3	1.0	7	dbSNP_134	15	1,8593		0,1,4296	no	missense	HOXA4	NM_002141.4	83	0,1,6499	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	23/321	27170286	1,12999	2203	4297	6500	SO:0001583	missense	3201					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27170286A>G		CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	5105	protein-coding gene	gene with protein product		142953	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.67T>C	7.37:g.27170286A>G	ENSP00000353151:p.Tyr23His					HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA4_ENST00000428284.2_Missense_Mutation_p.Y23H|HOXA-AS3_ENST00000518848.1_RNA	p.Y23H	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN			1	132	-			23			Pro-rich (part of the transcriptional activation domain).		A4D180|O43366	Missense_Mutation	SNP	ENST00000360046.5	37	c.67T>C	CCDS5405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.204389|4.204389	0.79127|0.79127	0.0|0.0	1.16E-4|1.16E-4	ENSG00000197576|ENSG00000197576	ENST00000552601|ENST00000360046;ENST00000428284	.|T;T	.|0.63417	.|-0.04;-0.04	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75140	.|0.3809	M|M	0.82517|0.82517	2.595|2.595	0.44702|0.44702	D|D	0.997691|0.997691	.|D	.|0.58970	.|0.984	.|P	.|0.55161	.|0.77	.|T	.|0.80661	.|-0.1283	.|9	.|0.87932	.|D	.|0	.|.	13.7799|13.7799	0.63077|0.63077	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|23	.|Q00056	.|HXA4_HUMAN	.|H	-1|23	.|ENSP00000353151:Y23H;ENSP00000408845:Y23H	.|ENSP00000353151:Y23H	.|Y	-|-	.|1	.|0	HOXA4|HOXA4	27136811|27136811	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	7.923000|7.923000	0.87546|0.87546	1.719000|1.719000	0.51432|0.51432	0.528000|0.528000	0.53228|0.53228	.|TAC		0.607	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4			3	15	0	0	0	1	0	3	15				
ZNF576	79177	broad.mit.edu	37	19	44103349	44103349	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:44103349A>G	ENST00000336564.4	+	3	606	c.452A>G	c.(451-453)gAc>gGc	p.D151G	ZNF576_ENST00000533118.1_Missense_Mutation_p.D151G|ZNF576_ENST00000391965.2_Missense_Mutation_p.D151G|ZNF576_ENST00000528387.1_Missense_Mutation_p.D151G|SRRM5_ENST00000526798.1_Intron|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000525771.1_Missense_Mutation_p.D151G|ZNF576_ENST00000529930.1_Missense_Mutation_p.D151G	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	151					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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				TGCGGTCAGGACTTTGCTCAG	0.622																																						ENST00000336564.4																			0				endometrium(1)|prostate(1)	2						c.(451-453)gAc>gGc		zinc finger protein 576							51.0	43.0	46.0					19																	44103349		2203	4300	6503	SO:0001583	missense	79177				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44103349A>G	AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"""Zinc fingers, C2H2-type"""	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.452A>G	19.37:g.44103349A>G	ENSP00000337852:p.Asp151Gly					SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000533118.1_Missense_Mutation_p.D151G|ZNF576_ENST00000391965.2_Missense_Mutation_p.D151G|ZNF576_ENST00000528387.1_Missense_Mutation_p.D151G|ZNF576_ENST00000529930.1_Missense_Mutation_p.D151G|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000525771.1_Missense_Mutation_p.D151G	p.D151G	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN			3	606	+		Prostate(69;0.0199)	151					Q9BU03	Missense_Mutation	SNP	ENST00000336564.4	37	c.452A>G	CCDS12625.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.484692	0.44147	.	.	ENSG00000124444	ENST00000391965;ENST00000525771;ENST00000533118;ENST00000528387;ENST00000529930;ENST00000336564	T;T;T;T;T;T	0.01209	5.17;5.17;5.17;5.17;5.17;5.17	3.86	2.84	0.33178	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.167292	0.38058	N	0.001838	T	0.00666	0.0022	N	0.02192	-0.645	0.80722	D	1	B	0.29716	0.255	B	0.33042	0.157	T	0.68284	-0.5449	10	0.44086	T	0.13	-9.8618	5.9483	0.19232	0.8824:0.0:0.1176:0.0	.	151	Q9H609	ZN576_HUMAN	G	151	ENSP00000375827:D151G;ENSP00000436182:D151G;ENSP00000435899:D151G;ENSP00000435934:D151G;ENSP00000435463:D151G;ENSP00000337852:D151G	ENSP00000337852:D151G	D	+	2	0	ZNF576	48795189	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.463000	0.45058	0.848000	0.35191	0.533000	0.62120	GAC		0.622	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	NM_024327		17	49	0	0	0	1	0	17	49				
MEGF11	84465	broad.mit.edu	37	15	66223200	66223200	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:66223200T>C	ENST00000409699.2	-	11	1541	c.1369A>G	c.(1369-1371)Acc>Gcc	p.T457A	MEGF11_ENST00000422354.1_Missense_Mutation_p.T457A|MEGF11_ENST00000288745.3_Missense_Mutation_p.T382A|MEGF11_ENST00000360698.4_Missense_Mutation_p.T457A|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.T382A			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	457	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GGGGAGCAGGTGCCACCATTG	0.577																																						ENST00000409699.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1369-1371)Acc>Gcc		multiple EGF-like-domains 11							131.0	96.0	108.0					15																	66223200		2201	4299	6500	SO:0001583	missense	84465					basolateral plasma membrane|integral to membrane		g.chr15:66223200T>C	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.1369A>G	15.37:g.66223200T>C	ENSP00000386908:p.Thr457Ala					MEGF11_ENST00000288745.3_Missense_Mutation_p.T382A|MEGF11_ENST00000422354.1_Missense_Mutation_p.T457A|MEGF11_ENST00000360698.4_Missense_Mutation_p.T457A|MEGF11_ENST00000395625.2_Missense_Mutation_p.T382A|MEGF11_ENST00000395614.1_5'UTR	p.T457A			A6BM72	MEG11_HUMAN			11	1541	-			457			EGF-like 8.		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.1369A>G	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	T	3.094	-0.186315	0.06340	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000360698;ENST00000455812	T;T;T;T;T;T	0.77877	2.21;2.21;2.21;2.21;2.21;-1.13	5.13	4.0	0.46444	EGF-like, laminin (2);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.182256	0.26601	U	0.023470	T	0.54175	0.1842	N	0.16201	0.385	0.32435	N	0.547503	B;B	0.09022	0.002;0.0	B;B	0.13407	0.009;0.003	T	0.51988	-0.8635	10	0.02654	T	1	.	8.0496	0.30570	0.0:0.2655:0.0:0.7345	.	457;382	A6BM72;A6BM72-2	MEG11_HUMAN;.	A	457;382;457;382;457;161	ENSP00000386908:T457A;ENSP00000288745:T382A;ENSP00000414475:T457A;ENSP00000378987:T382A;ENSP00000353919:T457A;ENSP00000401400:T161A	ENSP00000288745:T382A	T	-	1	0	MEGF11	64010254	0.203000	0.23435	1.000000	0.80357	0.981000	0.71138	0.304000	0.19228	1.927000	0.55829	0.459000	0.35465	ACC		0.577	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		13	93	0	0	0	1	0	13	93				
TBC1D2	55357	broad.mit.edu	37	9	100971111	100971111	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:100971111C>T	ENST00000375064.1	-	9	2027	c.1989G>A	c.(1987-1989)gaG>gaA	p.E663E	TBC1D2_ENST00000375063.1_Silent_p.E203E|TBC1D2_ENST00000342112.5_Silent_p.E445E|TBC1D2_ENST00000375066.5_Silent_p.E663E|TBC1D2_ENST00000493589.2_5'UTR	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	663	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAGCAGGGTGCTCGCGGGCCT	0.662																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1987-1989)gaG>gaA		TBC1 domain family, member 2							85.0	81.0	83.0					9																	100971111		2203	4300	6503	SO:0001819	synonymous_variant	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100971111C>T	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1989G>A	9.37:g.100971111C>T						TBC1D2_ENST00000342112.5_Silent_p.E445E|TBC1D2_ENST00000375064.1_Silent_p.E663E|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375063.1_Silent_p.E203E	p.E663E	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	9	2080	-		Myeloproliferative disorder(762;0.0255)	663			Rab-GAP TBC.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Silent	SNP	ENST00000375064.1	37	c.1989G>A																																																																																					0.662	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		16	77	0	0	0	1	0	16	77				
GNA11	2767	broad.mit.edu	37	19	3118981	3118981	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:3118981A>G	ENST00000078429.4	+	5	907	c.665A>G	c.(664-666)aAc>aGc	p.N222S	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	222					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		TGCTTTGAGAACGTGACATCC	0.627			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		0				endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(664-666)aAc>aGc		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							150.0	121.0	131.0					19																	3118981		2203	4300	6503	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118981A>G	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.665A>G	19.37:g.3118981A>G	ENSP00000078429:p.Asn222Ser					AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.N222S	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	907	+		Hepatocellular(1079;0.137)	222					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.665A>G	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	11.20	1.568471	0.28003	.	.	ENSG00000088256	ENST00000078429	D	0.88509	-2.39	3.26	3.26	0.37387	.	0.191661	0.34200	U	0.004168	D	0.86125	0.5858	M	0.68952	2.095	0.58432	D	0.999997	B	0.14012	0.009	B	0.15052	0.012	T	0.82629	-0.0363	10	0.39692	T	0.17	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	222	P29992	GNA11_HUMAN	S	222	ENSP00000078429:N222S	ENSP00000078429:N222S	N	+	2	0	GNA11	3069981	1.000000	0.71417	0.996000	0.52242	0.128000	0.20619	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	AAC		0.627	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		5	159	0	0	0	1	0	5	159				
DONSON	29980	broad.mit.edu	37	21	34953747	34953747	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:34953747T>C	ENST00000303071.5	-	8	1277	c.1211A>G	c.(1210-1212)aAa>aGa	p.K404R	DONSON_ENST00000432378.1_Missense_Mutation_p.K404R|DONSON_ENST00000303113.6_Missense_Mutation_p.K390R|DONSON_ENST00000453626.1_Missense_Mutation_p.K404R	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	404					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						GTTGATTCCTTTTACCAACAC	0.403																																						ENST00000453626.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						c.(1210-1212)aAa>aGa		downstream neighbor of SON							94.0	87.0	90.0					21																	34953747		2203	4300	6503	SO:0001583	missense	29980				multicellular organismal development	nucleus		g.chr21:34953747T>C	AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.1211A>G	21.37:g.34953747T>C	ENSP00000307143:p.Lys404Arg					DONSON_ENST00000303071.5_Missense_Mutation_p.K404R|DONSON_ENST00000432378.1_Missense_Mutation_p.K404R|DONSON_ENST00000303113.6_Missense_Mutation_p.K390R	p.K404R			Q9NYP3	DONS_HUMAN			8	1215	-			404					Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	ENST00000303071.5	37	c.1211A>G	CCDS13632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.30|19.30	3.801756|3.801756	0.70682|0.70682	.|.	.|.	ENSG00000159147|ENSG00000159147	ENST00000437395|ENST00000303113;ENST00000453626;ENST00000303071;ENST00000432378	.|.	.|.	.|.	5.6|5.6	4.46|4.46	0.54185|0.54185	.|.	0.047154|0.047154	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.56529|0.56529	0.1991|0.1991	M|M	0.63843|0.63843	1.955|1.955	0.40840|0.40840	D|D	0.983661|0.983661	.|P;P	.|0.45044	.|0.849;0.849	.|P;P	.|0.45428	.|0.48;0.48	T|T	0.53858|0.53858	-0.8379|-0.8379	7|9	0.35671|0.21014	T|T	0.21|0.42	-39.675|-39.675	11.2015|11.2015	0.48743|0.48743	0.0:0.0727:0.0:0.9273|0.0:0.0727:0.0:0.9273	.|.	.|390;404	.|F8W8A5;Q9NYP3	.|.;DONS_HUMAN	E|R	375|390;404;404;404	.|.	ENSP00000399535:K375E|ENSP00000307143:K404R	K|K	-|-	1|2	0|0	DONSON|DONSON	33875617|33875617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.845000|0.845000	0.48019|0.48019	4.035000|4.035000	0.57297|0.57297	0.975000|0.975000	0.38392|0.38392	0.373000|0.373000	0.22412|0.22412	AAG|AAA		0.403	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613		16	42	0	0	0	1	0	16	42				
KIF1A	547	broad.mit.edu	37	2	241658575	241658575	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:241658575G>A	ENST00000320389.7	-	45	4917	c.4759C>T	c.(4759-4761)Ccg>Tcg	p.P1587S	KIF1A_ENST00000498729.2_Missense_Mutation_p.P1688S	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1587	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GACGTGTGCGGCTCCAGGAAG	0.647																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(5062-5064)Ccg>Tcg		kinesin family member 1A							83.0	95.0	91.0					2																	241658575		2117	4234	6351	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241658575G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4759C>T	2.37:g.241658575G>A	ENSP00000322791:p.Pro1587Ser					KIF1A_ENST00000320389.7_Missense_Mutation_p.P1587S	p.P1688S	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	47	5308	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1587					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.5062C>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209289	0.79240	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.11385	2.78;2.78	4.06	4.06	0.47325	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	U	0.000000	T	0.28200	0.0696	L	0.55103	1.725	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.02064	-1.1220	10	0.41790	T	0.15	.	16.2399	0.82401	0.0:0.0:1.0:0.0	.	1688;1587	F5H045;Q12756	.;KIF1A_HUMAN	S	1587;1688;1696	ENSP00000322791:P1587S;ENSP00000438388:P1688S	ENSP00000322791:P1587S	P	-	1	0	KIF1A	241307248	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	9.462000	0.97649	1.818000	0.53035	0.467000	0.42956	CCG		0.647	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		10	166	0	0	0	1	0	10	166				
TAS2R9	50835	broad.mit.edu	37	12	10962520	10962520	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:10962520G>A	ENST00000240691.2	-	1	247	c.155C>T	c.(154-156)gCc>gTc	p.A52V	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	52					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCTGGAGATGGCCAAGCTGAT	0.408																																						ENST00000240691.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(154-156)gCc>gTc		taste receptor, type 2, member 9							100.0	96.0	98.0					12																	10962520		2203	4300	6503	SO:0001583	missense	50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10962520G>A	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.155C>T	12.37:g.10962520G>A	ENSP00000240691:p.Ala52Val						p.A52V	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN			1	247	-			52					Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	c.155C>T	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438533	0.62955	.	.	ENSG00000121381	ENST00000240691	T	0.56275	0.47	4.9	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.242335	0.23537	U	0.047107	T	0.65481	0.2695	M	0.72353	2.195	0.09310	N	1	D	0.64830	0.994	P	0.62298	0.9	T	0.56068	-0.8040	10	0.45353	T	0.12	.	10.8866	0.46971	0.0:0.3427:0.6573:0.0	.	52	Q9NYW1	TA2R9_HUMAN	V	52	ENSP00000240691:A52V	ENSP00000240691:A52V	A	-	2	0	TAS2R9	10853787	0.000000	0.05858	0.050000	0.19076	0.933000	0.57130	0.860000	0.27871	2.422000	0.82143	0.585000	0.79938	GCC		0.408	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			54	103	0	0	0	1	0	54	103				
MRPL45	84311	broad.mit.edu	37	17	36476503	36476503	+	Splice_Site	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:36476503A>G	ENST00000312513.5	+	6	673	c.512A>G	c.(511-513)gAc>gGc	p.D171G		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	171						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGCCCTTAGGACATGACTTGG	0.468																																						ENST00000312513.5																			0				breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13						c.e6-1		mitochondrial ribosomal protein L45							190.0	178.0	182.0					17																	36476503		2203	4300	6503	SO:0001630	splice_region_variant	84311				intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	g.chr17:36476503A>G	BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"""Mitochondrial ribosomal proteins / large subunits"""	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.511-1A>G	17.37:g.36476503A>G							p.D171_splice	NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN			6	673	+	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	171					A1L436|Q6ZMJ5	Splice_Site	SNP	ENST00000312513.5	37	c.510_splice	CCDS11326.1	.	.	.	.	.	.	.	.	.	.	A	18.84	3.709127	0.68615	.	.	ENSG00000174100	ENST00000312513	T	0.76186	-1.0	5.0	5.0	0.66597	.	0.099951	0.64402	D	0.000002	T	0.80193	0.4578	L	0.59436	1.845	0.54753	D	0.999981	D	0.61080	0.989	P	0.59703	0.862	T	0.77180	-0.2682	10	0.22706	T	0.39	-17.7258	14.5355	0.67958	1.0:0.0:0.0:0.0	.	171	Q9BRJ2	RM45_HUMAN	G	171	ENSP00000308901:D171G	ENSP00000308901:D171G	D	+	2	0	MRPL45	33730030	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	9.139000	0.94554	2.097000	0.63578	0.374000	0.22700	GAC		0.468	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256792.3	NM_032351	Missense_Mutation	5	251	0	0	0	1	0	5	251				
TRIP6	7205	broad.mit.edu	37	7	100468206	100468206	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:100468206T>C	ENST00000200457.4	+	6	1200	c.840T>C	c.(838-840)ggT>ggC	p.G280G		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	280	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCAGTGTGGTGGCTGCGGAG	0.612																																						ENST00000200457.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14						c.(838-840)ggT>ggC		thyroid hormone receptor interactor 6							151.0	141.0	145.0					7																	100468206		2203	4300	6503	SO:0001819	synonymous_variant	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100468206T>C	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.840T>C	7.37:g.100468206T>C							p.G280G	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN			6	1200	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		280			LIM zinc-binding 1.		A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Silent	SNP	ENST00000200457.4	37	c.840T>C	CCDS5708.1	.	.	.	.	.	.	.	.	.	.	t	8.192	0.796181	0.16327	.	.	ENSG00000087077	ENST00000429658	.	.	.	5.79	-3.88	0.04205	.	.	.	.	.	T	0.48241	0.1489	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43376	-0.9395	4	.	.	.	.	6.3617	0.21433	0.0874:0.4689:0.306:0.1377	.	.	.	.	A	54	.	.	V	+	2	0	TRIP6	100306142	0.000000	0.05858	0.964000	0.40570	0.596000	0.36781	-3.067000	0.00620	-0.769000	0.04620	0.524000	0.50904	GTG		0.612	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		24	78	0	0	0	1	0	24	78				
PRRT1	80863	broad.mit.edu	37	6	32117026	32117026	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:32117026C>T	ENST00000211413.5	-	4	1018	c.894G>A	c.(892-894)caG>caA	p.Q298Q	PRRT1_ENST00000467780.1_5'UTR|PRRT1_ENST00000375150.2_Silent_p.Q217Q|PRRT1_ENST00000375152.2_Silent_p.Q217Q	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	298					response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						TCTCGTGGTGCTGCGCGGCGA	0.632																																						ENST00000211413.5																			0				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						c.(892-894)caG>caA		proline-rich transmembrane protein 1							39.0	46.0	43.0					6																	32117026		1508	2709	4217	SO:0001819	synonymous_variant	80863				response to biotic stimulus	integral to membrane		g.chr6:32117026C>T	AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"""Proline-rich transmembrane proteins"""	13943	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 7"""		"""chromosome 6 open reading frame 31"""	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.894G>A	6.37:g.32117026C>T						PRRT1_ENST00000375152.2_Silent_p.Q217Q|PRRT1_ENST00000375150.2_Silent_p.Q217Q|PRRT1_ENST00000467780.1_5'UTR	p.Q298Q	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN			4	1018	-			298					A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Silent	SNP	ENST00000211413.5	37	c.894G>A	CCDS4739.1																																																																																				0.632	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076255.2	NM_030651		14	36	0	0	0	1	0	14	36				
ABCC9	10060	broad.mit.edu	37	12	22078939	22078939	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:22078939T>C	ENST00000261201.4	-	3	342	c.343A>G	c.(343-345)Act>Gct	p.T115A	ABCC9_ENST00000326684.4_Missense_Mutation_p.T115A|ABCC9_ENST00000345162.2_Missense_Mutation_p.T115A|ABCC9_ENST00000261200.4_Missense_Mutation_p.T115A|ABCC9_ENST00000538350.1_Missense_Mutation_p.T115A	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	115					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GATGTTGTAGTGGCAACGAAT	0.413																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(343-345)Act>Gct		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						127.0	123.0	124.0					12																	22078939		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22078939T>C	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.343A>G	12.37:g.22078939T>C	ENSP00000261201:p.Thr115Ala					ABCC9_ENST00000538350.1_Missense_Mutation_p.T115A|ABCC9_ENST00000345162.2_Missense_Mutation_p.T115A|ABCC9_ENST00000261201.4_Missense_Mutation_p.T115A|ABCC9_ENST00000326684.4_Missense_Mutation_p.T115A	p.T115A	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			3	342	-			115					O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.343A>G	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	T	5.167	0.216346	0.09810	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162;ENST00000326684;ENST00000538350	D;D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11;-4.11	4.47	4.47	0.54385	.	0.172820	0.49916	D	0.000135	T	0.81917	0.4924	N	0.00879	-1.12	0.35118	D	0.766816	B;B;B;B	0.09022	0.002;0.002;0.0;0.0	B;B;B;B	0.17979	0.02;0.008;0.0;0.0	T	0.78894	-0.2024	10	0.02654	T	1	-20.6455	4.6587	0.12632	0.0:0.2428:0.0:0.7572	.	115;115;115;115	G3V1N6;Q8N4N7;O60706;O60706-2	.;.;ABCC9_HUMAN;.	A	115	ENSP00000261200:T115A;ENSP00000261201:T115A;ENSP00000261202:T115A;ENSP00000317518:T115A;ENSP00000442604:T115A	ENSP00000261200:T115A	T	-	1	0	ABCC9	21970206	1.000000	0.71417	0.983000	0.44433	0.833000	0.47200	5.879000	0.69690	2.007000	0.58848	0.459000	0.35465	ACT		0.413	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		9	152	0	0	0	1	0	9	152				
KIF26B	55083	broad.mit.edu	37	1	245849150	245849150	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:245849150G>A	ENST00000407071.2	+	12	3305	c.2865G>A	c.(2863-2865)ggG>ggA	p.G955G	KIF26B_ENST00000366518.4_Silent_p.G574G	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	955					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTCAGTTTGGGCCAGAGCAGG	0.592																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1720-1722)ggG>ggA		kinesin family member 26B							18.0	21.0	20.0					1																	245849150		1932	4134	6066	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245849150G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2865G>A	1.37:g.245849150G>A						KIF26B_ENST00000407071.2_Silent_p.G955G	p.G574G			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	1826	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		955			Kinesin-motor.		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.1722G>A	CCDS44342.1																																																																																				0.592	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		13	42	0	0	0	1	0	13	42				
CBFA2T2	9139	broad.mit.edu	37	20	32198968	32198968	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:32198968A>G	ENST00000346541.3	+	4	811	c.274A>G	c.(274-276)Aat>Gat	p.N92D	CBFA2T2_ENST00000359606.3_Missense_Mutation_p.N102D|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.N92D|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.N63D|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.N83D|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.N63D|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.N63D|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.N63D	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	92	Pro-rich.				epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GAGATTCAGCAATGGTCCTGC	0.483																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(274-276)Aat>Gat		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							162.0	138.0	146.0					20																	32198968		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32198968A>G	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.274A>G	20.37:g.32198968A>G	ENSP00000262653:p.Asn92Asp					CBFA2T2_ENST00000359606.3_Missense_Mutation_p.N102D|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.N63D|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.N83D|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.N92D|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.N63D|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.N63D	p.N92D	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			4	811	+			92			Pro-rich.		B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.274A>G	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	A	34	5.296309	0.95574	.	.	ENSG00000078699	ENST00000375279;ENST00000342704;ENST00000417366;ENST00000344201;ENST00000346541;ENST00000397800;ENST00000397798;ENST00000359606	T;T;T;T;T	0.49139	0.79;0.8;0.79;0.8;1.39	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	L	0.49778	1.585	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.78314	0.98;0.991	T	0.64385	-0.6420	10	0.52906	T	0.07	-3.8097	15.6678	0.77247	1.0:0.0:0.0:0.0	.	92;83	O43439;F8W6D7	MTG8R_HUMAN;.	D	92;83;83;63;92;63;63;102	ENSP00000364428:N92D;ENSP00000345810:N83D;ENSP00000262653:N92D;ENSP00000380902:N63D;ENSP00000352622:N102D	ENSP00000345810:N83D	N	+	1	0	CBFA2T2	31662629	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.103000	0.63969	0.533000	0.62120	AAT		0.483	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		7	148	0	0	0	1	0	7	148				
HECTD4	283450	broad.mit.edu	37	12	112665919	112665919	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:112665919A>G	ENST00000430131.2	-	42	6707	c.5562T>C	c.(5560-5562)gtT>gtC	p.V1854V	HECTD4_ENST00000550722.1_Silent_p.V2130V|HECTD4_ENST00000377560.5_Silent_p.V2104V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1854					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CAAGGAGCCGAACGACTGCCA	0.537																																						ENST00000550722.1																			0											c.(6388-6390)gtT>gtC		HECT domain containing E3 ubiquitin protein ligase 4							119.0	117.0	117.0					12																	112665919		1994	4156	6150	SO:0001819	synonymous_variant	283450							g.chr12:112665919A>G	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5562T>C	12.37:g.112665919A>G						HECTD4_ENST00000430131.2_Silent_p.V1854V|HECTD4_ENST00000377560.5_Silent_p.V2104V	p.V2130V	NM_001109662.3	NP_001103132.3					43	6785	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.6390T>C		.	.	.	.	.	.	.	.	.	.	A	9.715	1.158213	0.21454	.	.	ENSG00000173064	ENST00000550968	.	.	.	6.03	0.796	0.18648	.	.	.	.	.	T	0.50990	0.1648	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34329	-0.9833	4	.	.	.	.	4.8778	0.13665	0.4362:0.2845:0.2793:0.0	.	.	.	.	S	21	.	.	F	-	2	0	C12orf51	111150302	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.228000	0.32588	-0.086000	0.12550	0.533000	0.62120	TTC		0.537	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		24	128	0	0	0	1	0	24	128				
PSMB5	5693	broad.mit.edu	37	14	23495455	23495455	+	Missense_Mutation	SNP	T	T	C	rs60224002		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23495455T>C	ENST00000361611.6	-	3	898	c.635A>G	c.(634-636)tAt>tGt	p.Y212C	PSMB5_ENST00000493471.2_3'UTR|PSMB5_ENST00000425762.2_Missense_Mutation_p.Y109C|PSMB5_ENST00000460922.2_3'UTR	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	212					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	GGCCAGATCATAGGCCTGCTC	0.567																																						ENST00000361611.6																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7						c.(634-636)tAt>tGt		proteasome (prosome, macropain) subunit, beta type, 5	Bortezomib(DB00188)						160.0	139.0	147.0					14																	23495455		2203	4300	6503	SO:0001583	missense	5693				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity	g.chr14:23495455T>C	D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"""Proteasome (prosome, macropain) subunits"""	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.635A>G	14.37:g.23495455T>C	ENSP00000355325:p.Tyr212Cys					PSMB5_ENST00000425762.2_Missense_Mutation_p.Y109C|PSMB5_ENST00000493471.2_3'UTR|PSMB5_ENST00000460922.2_3'UTR	p.Y212C	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN		GBM - Glioblastoma multiforme(265;0.0121)	3	898	-	all_cancers(95;3.3e-05)		212					B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Missense_Mutation	SNP	ENST00000361611.6	37	c.635A>G	CCDS9584.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.499269	0.26861	.	.	ENSG00000100804	ENST00000361611;ENST00000425762	T;T	0.22134	1.97;1.97	5.25	5.25	0.73442	.	0.180201	0.50627	D	0.000106	T	0.20536	0.0494	L	0.41492	1.28	0.34311	D	0.685429	B	0.18968	0.032	B	0.25405	0.06	T	0.16719	-1.0393	10	0.37606	T	0.19	-2.4825	14.1432	0.65334	0.0:0.0:0.0:1.0	rs60224002	212	P28074	PSB5_HUMAN	C	212;109	ENSP00000355325:Y212C;ENSP00000395206:Y109C	ENSP00000355325:Y212C	Y	-	2	0	PSMB5	22565295	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.206000	0.42779	1.988000	0.58038	0.392000	0.25879	TAT		0.567	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071695.4	NM_002797		28	227	0	0	0	1	0	28	227				
CELSR1	9620	broad.mit.edu	37	22	46790092	46790092	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:46790092T>C	ENST00000262738.3	-	14	5910	c.5911A>G	c.(5911-5913)Agc>Ggc	p.S1971G		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1971	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AAGCCTTTGCTGACGGCACAG	0.592																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(5911-5913)Agc>Ggc		cadherin, EGF LAG seven-pass G-type receptor 1							92.0	67.0	75.0					22																	46790092		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46790092T>C	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5911A>G	22.37:g.46790092T>C	ENSP00000262738:p.Ser1971Gly						p.S1971G	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	14	5910	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1971			EGF-like 7; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.5911A>G	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	T	9.356	1.066714	0.20067	.	.	ENSG00000075275	ENST00000262738	T	0.69685	-0.42	3.47	0.0166	0.14109	.	0.266713	0.33691	U	0.004645	T	0.49558	0.1564	L	0.35414	1.06	0.80722	D	1	B;B	0.21071	0.051;0.005	B;B	0.21917	0.037;0.013	T	0.26985	-1.0087	10	0.42905	T	0.14	.	7.3711	0.26802	0.0:0.2924:0.0:0.7076	.	292;1971	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	G	1971	ENSP00000262738:S1971G	ENSP00000262738:S1971G	S	-	1	0	CELSR1	45168756	0.016000	0.18221	0.950000	0.38849	0.670000	0.39368	0.614000	0.24314	-0.008000	0.14320	0.379000	0.24179	AGC		0.592	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		23	63	0	0	0	1	0	23	63				
NEUROD6	63974	broad.mit.edu	37	7	31378346	31378346	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:31378346G>A	ENST00000297142.3	-	2	859	c.537C>T	c.(535-537)ggC>ggT	p.G179G		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	179					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTGCAAGCAGCCTGCCACCA	0.517																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(535-537)ggC>ggT		neuronal differentiation 6							98.0	81.0	87.0					7																	31378346		2203	4300	6503	SO:0001819	synonymous_variant	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378346G>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.537C>T	7.37:g.31378346G>A							p.G179G	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	859	-			179					Q548T9|Q9H3H6	Silent	SNP	ENST00000297142.3	37	c.537C>T	CCDS5434.1																																																																																				0.517	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		42	102	0	0	0	1	0	42	102				
HAS2	3037	broad.mit.edu	37	8	122641078	122641078	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:122641078G>A	ENST00000303924.4	-	2	1040	c.503C>T	c.(502-504)tCg>tTg	p.S168L		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	168					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TACGTGTTGCGAGCTTTCTTT	0.448																																						ENST00000303924.4																		HAS2/PLAG1(10)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(502-504)tCg>tTg		hyaluronan synthase 2							376.0	327.0	344.0					8																	122641078		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122641078G>A	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.503C>T	8.37:g.122641078G>A	ENSP00000306991:p.Ser168Leu						p.S168L	NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	1040	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		168					Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.503C>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	G	5.338	0.247611	0.10130	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.43688	0.94	5.87	5.87	0.94306	.	0.480009	0.22302	N	0.061853	T	0.20414	0.0491	N	0.08118	0	0.32306	N	0.564442	B	0.02656	0.0	B	0.01281	0.0	T	0.23511	-1.0186	10	0.15952	T	0.53	-4.3164	8.0339	0.30480	0.1846:0.0:0.8154:0.0	.	168	Q92819	HAS2_HUMAN	L	168	ENSP00000306991:S168L	ENSP00000306991:S168L	S	-	2	0	HAS2	122710259	1.000000	0.71417	0.955000	0.39395	0.012000	0.07955	6.378000	0.73150	2.941000	0.99782	0.655000	0.94253	TCG		0.448	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		167	276	0	0	0	1	0	167	276				
KDM8	79831	broad.mit.edu	37	16	27231984	27231984	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:27231984C>T	ENST00000286096.4	+	8	1357	c.1184C>T	c.(1183-1185)cCg>cTg	p.P395L	KDM8_ENST00000380948.2_Missense_Mutation_p.P199L|KDM8_ENST00000567785.1_3'UTR|KDM8_ENST00000568965.1_Missense_Mutation_p.P199L|KDM8_ENST00000441782.2_Missense_Mutation_p.P433L	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	395	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)										CTGTTCATCCCGGTGAAATAC	0.552																																						ENST00000286096.4																			0											c.(1183-1185)cCg>cTg		lysine (K)-specific demethylase 8							152.0	143.0	146.0					16																	27231984		2197	4300	6497	SO:0001583	missense	79831				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:27231984C>T	AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"""Chromatin-modifying enzymes / K-demethylases"""	25840	protein-coding gene	gene with protein product		611917	"""jumonji domain containing 5"""	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.1184C>T	16.37:g.27231984C>T	ENSP00000286096:p.Pro395Leu					KDM8_ENST00000380948.2_Missense_Mutation_p.P199L|KDM8_ENST00000441782.2_Missense_Mutation_p.P433L|KDM8_ENST00000568965.1_Missense_Mutation_p.P199L|KDM8_ENST00000567785.1_3'UTR	p.P395L	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN			8	1357	+			395			JmjC.		B4DLU9|Q6VAK5|Q9H8B1	Missense_Mutation	SNP	ENST00000286096.4	37	c.1184C>T	CCDS10627.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461286	0.63513	.	.	ENSG00000155666	ENST00000380948;ENST00000286096;ENST00000441782;ENST00000540888	D;D;D	0.90563	-2.69;-2.69;-2.69	5.28	5.28	0.74379	Cupin, JmjC-type (1);Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.97324	0.9125	H	0.98068	4.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98880	1.0769	10	0.87932	D	0	-37.3566	17.4942	0.87713	0.0:1.0:0.0:0.0	.	433;199;395	Q8N371-3;Q8N371-2;Q8N371	.;.;KDM8_HUMAN	L	199;395;433;143	ENSP00000370335:P199L;ENSP00000286096:P395L;ENSP00000398410:P433L	ENSP00000286096:P395L	P	+	2	0	JMJD5	27139485	1.000000	0.71417	0.344000	0.25628	0.003000	0.03518	7.726000	0.84824	2.470000	0.83445	0.563000	0.77884	CCG		0.552	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254580.3	NM_024773		47	175	0	0	0	1	0	47	175				
PROC	5624	broad.mit.edu	37	2	128180493	128180493	+	Splice_Site	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:128180493C>T	ENST00000234071.3	+	4	325	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	MIR4783_ENST00000580343.1_RNA|PROC_ENST00000453608.2_Splice_Site_p.L101L|PROC_ENST00000409048.1_Splice_Site_p.L80L|PROC_ENST00000422777.3_Splice_Site_p.L80L	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	80	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CTCTCCGCAGCTGGCCTTCTG	0.741																																						ENST00000453608.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.e4-1		protein C (inactivator of coagulation factors Va and VIIIa)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						9.0	10.0	10.0					2																	128180493		2165	4241	6406	SO:0001630	splice_region_variant	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128180493C>T	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"""Endogenous ligands"""	9451	protein-coding gene	gene with protein product	"""prepro-protein C"""	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.238-1C>T	2.37:g.128180493C>T						PROC_ENST00000409048.1_Splice_Site_p.L80_splice|PROC_ENST00000422777.3_Splice_Site_p.L80_splice|PROC_ENST00000234071.3_Splice_Site_p.L80_splice	p.L101_splice			P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	4	309	+	Colorectal(110;0.1)		80			EGF-like 1.		B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Splice_Site	SNP	ENST00000234071.3	37	c.300_splice	CCDS2145.1																																																																																				0.741	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312	Silent	3	6	0	0	0	1	0	3	6				
PPT1	5538	broad.mit.edu	37	1	40535434	40535434	+	IGR	SNP	G	G	A	rs35749351		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:40535434G>A	ENST00000433473.3	-	0	2740				CAP1_ENST00000372802.1_Missense_Mutation_p.R293H|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000372805.3_Missense_Mutation_p.R294H|CAP1_ENST00000372792.2_Missense_Mutation_p.R294H|CAP1_ENST00000372798.1_Missense_Mutation_p.R293H|CAP1_ENST00000340450.3_Missense_Mutation_p.R293H|CAP1_ENST00000372797.3_Missense_Mutation_p.R294H	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1						adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGTCCAGTACGCAGTGGCCCC	0.522																																						ENST00000372797.3																			0				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(880-882)cGc>cAc		CAP, adenylate cyclase-associated protein 1 (yeast)		G	HIS/ARG,HIS/ARG	0,3926		0,0,1963	141.0	135.0	137.0		881,881	5.5	1.0	1	dbSNP_126	137	1,8291		0,1,4145	no	missense,missense	CAP1	NM_001105530.1,NM_006367.3	29,29	0,1,6108	AA,AG,GG		0.0121,0.0,0.0082	benign,benign	294/476,294/476	40535434	1,12217	1963	4146	6109	SO:0001628	intergenic_variant	10487				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding	g.chr1:40535434G>A	U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 1, infantile"""	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495		1.37:g.40535434G>A						CAP1_ENST00000372798.1_Missense_Mutation_p.R293H|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000372805.3_Missense_Mutation_p.R294H|CAP1_ENST00000372792.2_Missense_Mutation_p.R294H|CAP1_ENST00000372802.1_Missense_Mutation_p.R293H|CAP1_ENST00000340450.3_Missense_Mutation_p.R293H	p.R294H	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		9	1442	+	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	294					B4DY24|Q6FGQ4	Missense_Mutation	SNP	ENST00000433473.3	37	c.881G>A	CCDS447.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110676	0.56398	0.0	1.21E-4	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000414893;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805;ENST00000372794	T;T;T;T;T;T;T	0.14266	2.73;2.73;2.52;2.73;2.73;2.73;2.73	5.46	5.46	0.80206	Adenylate cyclase-associated CAP, N-terminal (1);	0.160739	0.53938	D	0.000047	T	0.16769	0.0403	L	0.46741	1.465	0.52099	D	0.99994	B;B	0.24533	0.105;0.105	B;B	0.24155	0.051;0.051	T	0.01982	-1.1235	10	0.45353	T	0.12	-11.205	18.2981	0.90154	0.0:0.0:1.0:0.0	rs35749351	241;294	E7ENY9;Q01518	.;CAP1_HUMAN	H	294;293;145;294;271;293;293;294;145	ENSP00000361883:R294H;ENSP00000361888:R293H;ENSP00000398877:R145H;ENSP00000361878:R294H;ENSP00000361884:R293H;ENSP00000344832:R293H;ENSP00000361891:R294H	ENSP00000344832:R293H	R	+	2	0	CAP1	40308021	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.707000	0.61852	2.571000	0.86741	0.555000	0.69702	CGC		0.522	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310		58	198	0	0	0	1	0	58	198				
DST	667	broad.mit.edu	37	6	56473886	56473886	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:56473886G>A	ENST00000361203.3	-	36	4914	c.4907C>T	c.(4906-4908)gCt>gTt	p.A1636V	DST_ENST00000370754.5_Missense_Mutation_p.A1814V|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.A1636V|DST_ENST00000446842.2_Missense_Mutation_p.A1310V|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.A1636V			Q03001	DYST_HUMAN	dystonin	1636					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGGTGACGCAGCAGAAATAAT	0.408																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(5440-5442)gCt>gTt		dystonin							242.0	234.0	237.0					6																	56473886		1907	4131	6038	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56473886G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4907C>T	6.37:g.56473886G>A	ENSP00000354508:p.Ala1636Val					DST_ENST00000370769.4_Missense_Mutation_p.A1636V|DST_ENST00000312431.6_Missense_Mutation_p.A1636V|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.A1310V|DST_ENST00000361203.3_Missense_Mutation_p.A1636V|DST_ENST00000244364.6_Intron	p.A1814V			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		39	5440	-	Lung NSC(77;0.103)		1636					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.5441C>T		.	.	.	.	.	.	.	.	.	.	G	4.117	0.019814	0.08006	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.52	3.75	0.43078	.	0.423937	0.19621	N	0.109918	T	0.32406	0.0828	.	.	.	0.23249	N	0.998044	B	0.14438	0.01	B	0.12837	0.008	T	0.06534	-1.0821	8	0.32370	T	0.25	.	7.4368	0.27160	0.1481:0.0:0.6873:0.1645	.	1310	Q03001-9	.	V	1814;1636;1310;1636;1636;1310	ENSP00000359790:A1814V;ENSP00000359805:A1636V;ENSP00000393645:A1310V;ENSP00000307959:A1636V;ENSP00000354508:A1636V;ENSP00000404924:A1310V	ENSP00000307959:A1636V	A	-	2	0	DST	56581845	0.001000	0.12720	0.418000	0.26571	0.487000	0.33371	0.612000	0.24283	0.818000	0.34468	-0.252000	0.11476	GCT		0.408	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		6	308	0	0	0	1	0	6	308				
TRAV27	28655	broad.mit.edu	37	14	22616437	22616437	+	RNA	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:22616437G>T	ENST00000390457.2	+	0	275									T cell receptor alpha variable 27																		GCCTGGGGAAGGTCCTGTCCT	0.468																																						ENST00000390457.2																			0																				57.0	58.0	58.0					14																	22616437		1879	4118	5997			28655							g.chr14:22616437G>T	AE000660		14q11.2	2012-02-07			ENSG00000211809	ENSG00000211809		"""T cell receptors / TRA locus"""	12125	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170656		14.37:g.22616437G>T														0	275	+									RNA	SNP	ENST00000390457.2	37																																																																																						0.468	TRAV27-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409904.1	NG_001332		17	55	1	0	1.15088e-07	1	1.18287e-07	17	55				
ZEB1	6935	broad.mit.edu	37	10	31816166	31816166	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:31816166T>C	ENST00000320985.10	+	9	3459	c.3349T>C	c.(3349-3351)Tct>Cct	p.S1117P	ZEB1_ENST00000560721.2_Missense_Mutation_p.S1097P|ZEB1_ENST00000542815.3_Missense_Mutation_p.S1050P|ZEB1_ENST00000446923.2_Missense_Mutation_p.S1101P|ZEB1_ENST00000361642.5_Missense_Mutation_p.S1118P			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1117	Glu-rich (acidic).				cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGAGCAAGTGTCTGAAGAAAA	0.373																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(3301-3303)Tct>Cct		zinc finger E-box binding homeobox 1							79.0	77.0	78.0					10																	31816166		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31816166T>C	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.3349T>C	10.37:g.31816166T>C	ENSP00000319248:p.Ser1117Pro					ZEB1_ENST00000542815.3_Missense_Mutation_p.S1050P|ZEB1_ENST00000320985.10_Missense_Mutation_p.S1117P|ZEB1_ENST00000361642.5_Missense_Mutation_p.S1118P|ZEB1_ENST00000560721.2_Missense_Mutation_p.S1097P	p.S1101P	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			9	3692	+		Prostate(175;0.0156)	1117			Glu-rich (acidic).		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.3301T>C	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.286089	0.23478	.	.	ENSG00000148516	ENST00000542879;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.13538	2.88;2.58;2.62;2.58;2.62	5.42	4.24	0.50183	.	3.717980	0.00864	N	0.001950	T	0.26593	0.0650	L	0.56769	1.78	0.27297	N	0.957671	D;P;P;P;P	0.56035	0.974;0.956;0.956;0.956;0.956	P;B;B;B;B	0.48030	0.564;0.361;0.361;0.361;0.361	T	0.29212	-1.0019	10	0.72032	D	0.01	-9.5718	11.8062	0.52156	0.131:0.0:0.0:0.869	.	1050;1101;1097;1118;1117	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	P	899;1118;1112;1050;1117;1097;636;1008;1101	ENSP00000444282:S899P;ENSP00000354487:S1118P;ENSP00000444891:S1050P;ENSP00000319248:S1117P;ENSP00000391612:S1101P	ENSP00000319248:S1117P	S	+	1	0	ZEB1	31856172	0.998000	0.40836	0.990000	0.47175	0.863000	0.49368	2.270000	0.43355	2.056000	0.61249	0.524000	0.50904	TCT		0.373	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		16	35	0	0	0	1	0	16	35				
BBS1	582	broad.mit.edu	37	11	66281968	66281968	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:66281968C>A	ENST00000318312.7	+	4	302	c.251C>A	c.(250-252)gCt>gAt	p.A84D	BBS1_ENST00000537537.1_5'UTR|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000393994.2_Missense_Mutation_p.A84D|BBS1_ENST00000455748.2_Missense_Mutation_p.A84D|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.A121D	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	84					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CCGCTACCTGCTCTGCCAGCT	0.607									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	ENST00000419755.3																			0											c.(361-363)gCt>gAt									132.0	136.0	135.0					11																	66281968		2200	4295	6495	SO:0001583	missense	582		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome				g.chr11:66281968C>A	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.251C>A	11.37:g.66281968C>A	ENSP00000317469:p.Ala84Asp					BBS1_ENST00000455748.2_Missense_Mutation_p.A84D|BBS1_ENST00000393994.2_Missense_Mutation_p.A84D|BBS1_ENST00000537537.1_5'UTR|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Missense_Mutation_p.A84D	p.A121D							4	440	+								Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	c.362C>A	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	C	8.295	0.818505	0.16607	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000526815;ENST00000455748;ENST00000393994	D;D;D;D;D	0.86769	-2.17;-2.17;-2.0;-2.17;-2.17	5.09	0.506	0.16961	.	.	.	.	.	T	0.56140	0.1965	N	0.00483	-1.445	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.56817	-0.7916	9	0.02654	T	1	.	8.7018	0.34329	0.5506:0.313:0.1363:0.0	.	84;84;84;121	E7EQH1;Q32MM9;Q8NFJ9;Q8NFJ9-2	.;.;BBS1_HUMAN;.	D	121;84;54;84;84	ENSP00000398526:A121D;ENSP00000317469:A84D;ENSP00000436860:A54D;ENSP00000405764:A84D;ENSP00000377563:A84D	ENSP00000317469:A84D	A	+	2	0	BBS1;CTD-3074O7.11	66038544	1.000000	0.71417	0.132000	0.22025	0.247000	0.25773	3.808000	0.55598	0.203000	0.20529	0.558000	0.71614	GCT		0.607	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			8	368	1	0	0.000274275	1	0.00027791	8	368				
FBXO46	23403	broad.mit.edu	37	19	46216140	46216140	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:46216140T>C	ENST00000317683.3	-	2	747	c.614A>G	c.(613-615)gAg>gGg	p.E205G		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	205										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TCCACCTTGCTCGGCGGACAC	0.687																																						ENST00000317683.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(613-615)gAg>gGg		F-box protein 46							18.0	21.0	20.0					19																	46216140		1998	4136	6134	SO:0001583	missense	23403						protein binding	g.chr19:46216140T>C	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.614A>G	19.37:g.46216140T>C	ENSP00000410007:p.Glu205Gly						p.E205G	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	747	-		Ovarian(192;0.179)|all_neural(266;0.224)	205						Missense_Mutation	SNP	ENST00000317683.3	37	c.614A>G	CCDS46116.1	.	.	.	.	.	.	.	.	.	.	T	4.636	0.118190	0.08881	.	.	ENSG00000177051	ENST00000317683	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	T	0.23133	0.0559	N	0.05280	-0.08	0.09310	N	1	B	0.18310	0.027	B	0.16289	0.015	T	0.11767	-1.0574	8	0.30854	T	0.27	-11.8126	11.5876	0.50927	0.0:0.0:0.0:1.0	.	205	Q6PJ61	FBX46_HUMAN	G	205	.	ENSP00000410007:E205G	E	-	2	0	FBXO46	50907980	0.975000	0.34042	0.915000	0.36163	0.039000	0.13416	1.774000	0.38573	1.849000	0.53698	0.460000	0.39030	GAG		0.687	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		21	22	0	0	0	1	0	21	22				
LINC00842	643650	broad.mit.edu	37	10	47133306	47133306	+	lincRNA	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:47133306T>C	ENST00000422732.2	-	0	435					NR_033957.2				long intergenic non-protein coding RNA 842																		TCTCTGGCTCTCCTCTCCTGC	0.483																																						ENST00000422732.2																			0																																																			643650							g.chr10:47133306T>C			10q11.22	2013-01-04			ENSG00000223477	ENSG00000274909		"""Long non-coding RNAs"""	44989	non-coding RNA	RNA, long non-coding							Standard	NR_033957		Approved		uc001jef.3		OTTHUMG00000018109		10.37:g.47133306T>C								NR_033957.1						0	435	-									RNA	SNP	ENST00000422732.2	37																																																																																						0.483	LINC00842-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047838.2	NR_033957		10	42	0	0	0	1	0	10	42				
ABCE1	6059	broad.mit.edu	37	4	146033465	146033465	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:146033465T>C	ENST00000296577.4	+	9	1300	c.785T>C	c.(784-786)cTa>cCa	p.L262P	ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	262	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					ATACGATCTCTAATAAATCCA	0.328																																						ENST00000296577.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18						c.(784-786)cTa>cCa		ATP-binding cassette, sub-family E (OABP), member 1							59.0	57.0	58.0					4																	146033465		2203	4299	6502	SO:0001583	missense	6059				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	g.chr4:146033465T>C	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.785T>C	4.37:g.146033465T>C	ENSP00000296577:p.Leu262Pro					ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_Intron	p.L262P	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN			9	1300	+	all_hematologic(180;0.151)		262			ABC transporter 1.		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	c.785T>C	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.994009	0.74703	.	.	ENSG00000164163	ENST00000296577	D	0.90844	-2.74	5.54	5.54	0.83059	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.96166	0.8750	M	0.94101	3.495	0.80722	D	1	D	0.56968	0.978	P	0.61940	0.896	D	0.97183	0.9852	10	0.87932	D	0	-51.2225	15.9597	0.79918	0.0:0.0:0.0:1.0	.	262	P61221	ABCE1_HUMAN	P	262	ENSP00000296577:L262P	ENSP00000296577:L262P	L	+	2	0	ABCE1	146252915	1.000000	0.71417	0.957000	0.39632	0.993000	0.82548	7.810000	0.86072	2.226000	0.72624	0.482000	0.46254	CTA		0.328	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		8	13	0	0	0	1	0	8	13				
M6PR	4074	broad.mit.edu	37	12	9098992	9098992	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:9098992A>G	ENST00000000412.3	-	2	477	c.9T>C	c.(7-9)ccT>ccC	p.P3P		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	3					endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)	Alglucosidase alfa(DB01272)	AGCTGTAGAAAGGGAACATCC	0.488																																						ENST00000000412.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11						c.(7-9)ccT>ccC		mannose-6-phosphate receptor (cation dependent)							79.0	79.0	79.0					12																	9098992		2203	4300	6503	SO:0001819	synonymous_variant	4074				endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity	g.chr12:9098992A>G		CCDS8598.1, CCDS73440.1	12p13.31	2013-09-20			ENSG00000003056	ENSG00000003056			6752	protein-coding gene	gene with protein product		154540					Standard	NM_002355		Approved		uc001qvf.3	P20645	OTTHUMG00000168276	ENST00000000412.3:c.9T>C	12.37:g.9098992A>G							p.P3P	NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0146)	2	477	-		Hepatocellular(102;0.137)	3					A8K528|D3DUV5	Silent	SNP	ENST00000000412.3	37	c.9T>C	CCDS8598.1																																																																																				0.488	M6PR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399130.1			14	71	0	0	0	1	0	14	71				
TUBA3E	112714	broad.mit.edu	37	2	130949633	130949633	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:130949633A>G	ENST00000312988.7	-	5	1224	c.1124T>C	c.(1123-1125)gTg>gCg	p.V375A		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	375					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CAGCATGCACACGGCCCGCTG	0.612																																						ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(1123-1125)gTg>gCg		tubulin, alpha 3e							46.0	46.0	46.0					2																	130949633		2203	4295	6498	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130949633A>G	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1124T>C	2.37:g.130949633A>G	ENSP00000318197:p.Val375Ala						p.V375A	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			5	1224	-	Colorectal(110;0.1)		375						Missense_Mutation	SNP	ENST00000312988.7	37	c.1124T>C	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	a	11.76	1.734369	0.30774	.	.	ENSG00000152086	ENST00000312988	D	0.83837	-1.77	2.96	2.96	0.34315	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.140248	0.27881	U	0.017472	T	0.79299	0.4422	M	0.64080	1.96	0.45634	D	0.998569	B	0.06786	0.001	B	0.19666	0.026	T	0.78104	-0.2334	10	0.87932	D	0	.	9.3032	0.37858	1.0:0.0:0.0:0.0	.	375	Q6PEY2	TBA3E_HUMAN	A	375	ENSP00000318197:V375A	ENSP00000318197:V375A	V	-	2	0	TUBA3E	130666103	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	6.679000	0.74513	1.363000	0.46019	0.374000	0.22700	GTG		0.612	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		5	128	0	0	0	1	0	5	128				
LRIT1	26103	broad.mit.edu	37	10	85991728	85991728	+	Silent	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:85991728G>T	ENST00000372105.3	-	4	1848	c.1827C>A	c.(1825-1827)gcC>gcA	p.A609A		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	609						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TGACTCCAAAGGCCTGAAAGT	0.577																																						ENST00000372105.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(1825-1827)gcC>gcA		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1							78.0	60.0	66.0					10																	85991728		2203	4300	6503	SO:0001819	synonymous_variant	26103					integral to endoplasmic reticulum membrane		g.chr10:85991728G>T	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1827C>A	10.37:g.85991728G>T							p.A609A	NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN			4	1848	-			609					Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	c.1827C>A	CCDS7373.1																																																																																				0.577	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		8	28	1	0	0.000157383	1	0.00015972	8	28				
CDCA2	157313	broad.mit.edu	37	8	25364677	25364677	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:25364677G>A	ENST00000330560.3	+	15	2972	c.2495G>A	c.(2494-2496)cGt>cAt	p.R832H	CDCA2_ENST00000380665.3_Missense_Mutation_p.R817H|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	832					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GATAGAAGACGTTCCATGTGT	0.398																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(2494-2496)cGt>cAt		cell division cycle associated 2							78.0	74.0	75.0					8																	25364677		2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25364677G>A	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.2495G>A	8.37:g.25364677G>A	ENSP00000328228:p.Arg832His					CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.R817H	p.R832H	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	15	2972	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	832					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.2495G>A	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	G	9.920	1.211794	0.22289	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000434814	T;T	0.34072	1.38;1.38	5.8	-0.369	0.12534	.	0.842361	0.10940	N	0.617342	T	0.19565	0.0470	N	0.21373	0.66	0.09310	N	1	B;B	0.26041	0.14;0.14	B;B	0.17722	0.019;0.019	T	0.19484	-1.0304	10	0.27785	T	0.31	2.9743	5.5609	0.17144	0.3907:0.1304:0.4788:0.0	.	817;832	E9PEI0;Q69YH5	.;CDCA2_HUMAN	H	832;817;231	ENSP00000328228:R832H;ENSP00000370040:R817H	ENSP00000328228:R832H	R	+	2	0	CDCA2	25420594	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.179000	0.09768	-0.386000	0.07821	-0.145000	0.13849	CGT		0.398	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		18	83	0	0	0	1	0	18	83				
PTPN1	5770	broad.mit.edu	37	20	49197817	49197817	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:49197817T>C	ENST00000371621.3	+	9	1278	c.1104T>C	c.(1102-1104)acT>acC	p.T368T	PTPN1_ENST00000541713.1_Silent_p.T295T	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	368					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	GTCAAGACACTGAAGTTAGAA	0.552																																						ENST00000371621.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16						c.(1102-1104)acT>acC		protein tyrosine phosphatase, non-receptor type 1	Clodronate(DB00720)|Tiludronate(DB01133)						58.0	54.0	56.0					20																	49197817		2203	4300	6503	SO:0001819	synonymous_variant	5770				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding	g.chr20:49197817T>C		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.1104T>C	20.37:g.49197817T>C						PTPN1_ENST00000541713.1_Silent_p.T295T	p.T368T	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN			9	1278	+		Lung NSC(126;0.163)	368					Q5TGD8|Q9BQV9|Q9NQQ4	Silent	SNP	ENST00000371621.3	37	c.1104T>C	CCDS13430.1																																																																																				0.552	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2			18	62	0	0	0	1	0	18	62				
KCNG1	3755	broad.mit.edu	37	20	49620945	49620945	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:49620945G>A	ENST00000371571.4	-	3	1458	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'UTR	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	391					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCAGGGGCGCGAAGAGGGCGA	0.677																																						ENST00000371571.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1171-1173)ttC>ttT		potassium voltage-gated channel, subfamily G, member 1							32.0	36.0	35.0					20																	49620945		2203	4300	6503	SO:0001819	synonymous_variant	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49620945G>A	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1173C>T	20.37:g.49620945G>A						RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA	p.F391F	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			3	1458	-			391					A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	ENST00000371571.4	37	c.1173C>T	CCDS13436.1																																																																																				0.677	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		14	32	0	0	0	1	0	14	32				
ULK4	54986	broad.mit.edu	37	3	41938363	41938363	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:41938363A>G	ENST00000301831.4	-	15	1943	c.1481T>C	c.(1480-1482)gTg>gCg	p.V494A	U8_ENST00000390843.2_RNA|ULK4_ENST00000420927.1_Missense_Mutation_p.V494A	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	494					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ACCAGCCACCACGCACAAATA	0.517																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(1480-1482)gTg>gCg		unc-51 like kinase 4							74.0	77.0	76.0					3																	41938363		1939	4135	6074	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41938363A>G	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1481T>C	3.37:g.41938363A>G	ENSP00000301831:p.Val494Ala					ULK4_ENST00000420927.1_Missense_Mutation_p.V494A	p.V494A	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	15	1943	-			494					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.1481T>C	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	A	10.58	1.390299	0.25118	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.53206	0.63;0.75	4.92	3.78	0.43462	Armadillo-like helical (1);	0.629485	0.16302	N	0.220434	T	0.23330	0.0564	N	0.20685	0.6	0.42879	D	0.994167	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.14980	-1.0453	10	0.06757	T	0.87	.	2.5131	0.04661	0.5127:0.2891:0.1982:0.0	.	494;494	B4E2M4;Q96C45	.;ULK4_HUMAN	A	494	ENSP00000301831:V494A;ENSP00000412187:V494A	ENSP00000301831:V494A	V	-	2	0	ULK4	41913367	0.951000	0.32395	0.541000	0.28102	0.807000	0.45602	1.917000	0.39996	1.840000	0.53500	0.477000	0.44152	GTG		0.517	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		31	97	0	0	0	1	0	31	97				
CASP6	839	broad.mit.edu	37	4	110618836	110618836	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:110618836G>A	ENST00000265164.2	-	3	249	c.172C>T	c.(172-174)Cac>Tac	p.H58Y	CASP6_ENST00000505486.1_Missense_Mutation_p.H58Y|CASP6_ENST00000352981.3_Intron|CASP6_ENST00000510324.1_5'Flank	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	58					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		AGTGTTAAGTGCCAAAAGAAC	0.428																																						ENST00000265164.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(172-174)Cac>Tac		caspase 6, apoptosis-related cysteine peptidase							140.0	136.0	138.0					4																	110618836		2203	4300	6503	SO:0001583	missense	839				cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr4:110618836G>A	U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"""Caspases"""	1507	protein-coding gene	gene with protein product		601532	"""caspase 6, apoptosis-related cysteine protease"""			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.172C>T	4.37:g.110618836G>A	ENSP00000265164:p.His58Tyr					CASP6_ENST00000505486.1_Missense_Mutation_p.H58Y|CASP6_ENST00000352981.3_Intron	p.H58Y	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000171)	3	249	-		Hepatocellular(203;0.217)	58					Q9BQE7	Missense_Mutation	SNP	ENST00000265164.2	37	c.172C>T	CCDS3684.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962804	0.53507	.	.	ENSG00000138794	ENST00000265164;ENST00000503684;ENST00000505486	T;T;T	0.29655	2.04;2.04;1.56	6.03	3.18	0.36537	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.714649	0.15906	N	0.238843	T	0.38427	0.1040	M	0.73962	2.25	0.27456	N	0.95329	P	0.34562	0.457	B	0.39771	0.309	T	0.32587	-0.9901	10	0.59425	D	0.04	.	10.7538	0.46223	0.0:0.1277:0.6071:0.2653	.	58	P55212	CASP6_HUMAN	Y	58;40;58	ENSP00000265164:H58Y;ENSP00000427669:H40Y;ENSP00000424080:H58Y	ENSP00000265164:H58Y	H	-	1	0	CASP6	110838285	1.000000	0.71417	0.200000	0.23457	0.760000	0.43138	2.608000	0.46308	0.816000	0.34421	0.655000	0.94253	CAC		0.428	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254866.1	NM_001226		14	55	0	0	0	1	0	14	55				
RORC	6097	broad.mit.edu	37	1	151787617	151787617	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:151787617G>T	ENST00000318247.6	-	5	690	c.583C>A	c.(583-585)Ctc>Atc	p.L195I	RORC_ENST00000392697.3_Missense_Mutation_p.L249I|RORC_ENST00000356728.6_Missense_Mutation_p.L174I|RORC_ENST00000480719.1_5'Flank	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	195	Hinge. {ECO:0000255}.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCCCATTGAGCCCTGCCTTG	0.622																																						ENST00000356728.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(520-522)Ctc>Atc		RAR-related orphan receptor C							39.0	37.0	37.0					1																	151787617		2203	4300	6503	SO:0001583	missense	6097				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151787617G>T	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.583C>A	1.37:g.151787617G>T	ENSP00000327025:p.Leu195Ile					RORC_ENST00000392697.3_Missense_Mutation_p.L249I|RORC_ENST00000318247.6_Missense_Mutation_p.L195I	p.L174I	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		4	674	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		195			Hinge (Potential).		Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	c.520C>A	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	G	6.380	0.438309	0.12104	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.94613	-3.43;-3.47;-3.44	4.91	2.95	0.34219	.	0.949417	0.08483	U	0.939141	D	0.82309	0.5009	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.25955	0.007;0.138;0.026;0.007	B;B;B;B	0.22601	0.017;0.04;0.031;0.014	T	0.70644	-0.4815	10	0.24483	T	0.36	.	12.7429	0.57264	0.0:0.5139:0.4861:0.0	.	195;249;195;174	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	I	174;249;195	ENSP00000349164:L174I;ENSP00000376461:L249I;ENSP00000327025:L195I	ENSP00000327025:L195I	L	-	1	0	RORC	150054241	0.924000	0.31332	0.420000	0.26596	0.652000	0.38707	1.443000	0.35057	0.592000	0.29728	0.563000	0.77884	CTC		0.622	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1			15	19	1	0	1.3612e-06	1	1.39554e-06	15	19				
TRMT6	51605	broad.mit.edu	37	20	5924869	5924869	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:5924869T>C	ENST00000203001.2	-	4	527	c.397A>G	c.(397-399)Aca>Gca	p.T133A	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	133					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						CGGAATGTTGTACTATTTTCA	0.284																																						ENST00000203001.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.(397-399)Aca>Gca		tRNA methyltransferase 6 homolog (S. cerevisiae)							25.0	26.0	26.0					20																	5924869		2197	4291	6488	SO:0001583	missense	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5924869T>C	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.397A>G	20.37:g.5924869T>C	ENSP00000203001:p.Thr133Ala					TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_5'UTR	p.T133A	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN			4	527	-			133					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	ENST00000203001.2	37	c.397A>G	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	T	8.833	0.940285	0.18281	.	.	ENSG00000089195	ENST00000203001	T	0.20463	2.07	5.89	5.89	0.94794	.	0.145966	0.64402	D	0.000008	T	0.07999	0.0200	N	0.03930	-0.32	0.80722	D	1	B	0.22851	0.076	B	0.21151	0.033	T	0.17167	-1.0378	10	0.02654	T	1	-15.4558	10.6205	0.45476	0.0:0.0712:0.0:0.9288	.	133	Q9UJA5	TRM6_HUMAN	A	133	ENSP00000203001:T133A	ENSP00000203001:T133A	T	-	1	0	TRMT6	5872869	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.714000	0.54889	2.246000	0.74042	0.533000	0.62120	ACA		0.284	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			5	24	0	0	0	1	0	5	24				
KIF7	374654	broad.mit.edu	37	15	90190254	90190254	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:90190254A>G	ENST00000394412.3	-	7	1671	c.1595T>C	c.(1594-1596)gTg>gCg	p.V532A		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	532	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCGCAGTTCCACCATCTCCTC	0.652											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(1594-1596)gTg>gCg		kinesin family member 7							14.0	18.0	16.0					15																	90190254		2189	4291	6480	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90190254A>G	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1595T>C	15.37:g.90190254A>G	ENSP00000377934:p.Val532Ala		OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1273		p.V532A	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		7	1671	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		532					Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.1595T>C	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	a	6.028	0.373518	0.11409	.	.	ENSG00000166813	ENST00000394412	T	0.69306	-0.39	5.17	2.72	0.32119	.	0.431580	0.23710	N	0.045328	T	0.37019	0.0988	N	0.04880	-0.145	0.23243	N	0.998052	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.15838	-1.0423	10	0.12430	T	0.62	.	6.2292	0.20726	0.4014:0.0:0.5986:0.0	.	19;532	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	A	532	ENSP00000377934:V532A	ENSP00000377934:V532A	V	-	2	0	KIF7	87991258	0.660000	0.27420	0.997000	0.53966	0.880000	0.50808	0.848000	0.27710	0.990000	0.38787	0.375000	0.23000	GTG		0.652	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		3	22	0	0	0	1	0	3	22				
LAMB1	3912	broad.mit.edu	37	7	107576055	107576055	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:107576055T>C	ENST00000222399.6	-	27	4223	c.3993A>G	c.(3991-3993)gcA>gcG	p.A1331A	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000393561.1_Silent_p.A1355A	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1331	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CCCTCTCCTCTGCCTCAAGAG	0.493																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(4063-4065)gcA>gcG		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						212.0	186.0	195.0					7																	107576055		2203	4300	6503	SO:0001819	synonymous_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107576055T>C	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3993A>G	7.37:g.107576055T>C						LAMB1_ENST00000222399.6_Silent_p.A1331A|LAMB1_ENST00000474380.1_5'UTR	p.A1355A			P07942	LAMB1_HUMAN			25	4249	-			1331			Domain II.		Q14D91	Silent	SNP	ENST00000222399.6	37	c.4065A>G	CCDS5750.1																																																																																				0.493	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		36	133	0	0	0	1	0	36	133				
DBN1	1627	broad.mit.edu	37	5	176895114	176895114	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:176895114T>C	ENST00000309007.5	-	3	469	c.250A>G	c.(250-252)Aac>Gac	p.N84D	DBN1_ENST00000292385.5_Missense_Mutation_p.N86D|DBN1_ENST00000393565.1_Missense_Mutation_p.N84D	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	84	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATACCCAGTTGATGAGCACG	0.617																																						ENST00000292385.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25						c.(256-258)Aac>Gac		drebrin 1							188.0	200.0	196.0					5																	176895114		2203	4300	6503	SO:0001583	missense	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176895114T>C		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.250A>G	5.37:g.176895114T>C	ENSP00000308532:p.Asn84Asp					DBN1_ENST00000309007.5_Missense_Mutation_p.N84D|DBN1_ENST00000393565.1_Missense_Mutation_p.N84D	p.N86D	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	865	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	84			ADF-H.		A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	c.256A>G	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.639180	0.87760	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391;ENST00000506117;ENST00000514833	T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28	5.23	5.23	0.72850	Actin-binding, cofilin/tropomyosin type (3);	0.000000	0.85682	D	0.000000	T	0.64023	0.2561	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.87578	0.998;0.967;0.997	T	0.70557	-0.4839	10	0.87932	D	0	-24.4216	14.2427	0.65969	0.0:0.0:0.0:1.0	.	84;84;86	A8MV58;Q16643;Q16643-2	.;DREB_HUMAN;.	D	84;86;84;83;21;84	ENSP00000308532:N84D;ENSP00000292385:N86D;ENSP00000377195:N84D;ENSP00000422854:N83D;ENSP00000425546:N21D;ENSP00000421465:N84D	ENSP00000292385:N86D	N	-	1	0	DBN1	176827720	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	7.209000	0.77916	2.195000	0.70347	0.528000	0.53228	AAC		0.617	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		113	393	0	0	0	1	0	113	393				
VPS16	64601	broad.mit.edu	37	20	2841160	2841160	+	Silent	SNP	C	C	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:2841160C>A	ENST00000380445.3	+	5	507	c.435C>A	c.(433-435)gcC>gcA	p.A145A	VPS16_ENST00000380443.3_5'Flank|VPS16_ENST00000380469.3_Silent_p.A145A	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	145					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCGGAGTGGCCATCCTCACAG	0.607																																						ENST00000380445.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(433-435)gcC>gcA		vacuolar protein sorting 16 homolog (S. cerevisiae)							68.0	63.0	64.0					20																	2841160		2203	4300	6503	SO:0001819	synonymous_variant	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2841160C>A	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.435C>A	20.37:g.2841160C>A						VPS16_ENST00000380469.3_Silent_p.A145A	p.A145A	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN			5	507	+			145					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	ENST00000380445.3	37	c.435C>A	CCDS13036.1																																																																																				0.607	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		22	74	1	0	1.28384e-07	1	1.31923e-07	22	74				
NAA16	79612	broad.mit.edu	37	13	41941733	41941733	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:41941733G>C	ENST00000379406.3	+	14	2022	c.1698G>C	c.(1696-1698)ttG>ttC	p.L566F	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	566					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AAATATACTTGAAATTGTATG	0.328																																						ENST00000379406.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(1696-1698)ttG>ttC		N(alpha)-acetyltransferase 16, NatA auxiliary subunit							67.0	66.0	66.0					13																	41941733		2203	4300	6503	SO:0001583	missense	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41941733G>C	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1698G>C	13.37:g.41941733G>C	ENSP00000368716:p.Leu566Phe					NAA16_ENST00000497143.1_3'UTR	p.L566F	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN			14	2022	+			566					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	ENST00000379406.3	37	c.1698G>C	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212030	0.79240	.	.	ENSG00000172766	ENST00000379406	T	0.50001	0.76	5.54	5.54	0.83059	.	0.000000	0.56097	D	0.000022	T	0.64182	0.2575	L	0.46885	1.475	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.61417	-0.7067	10	0.44086	T	0.13	-6.5971	19.4712	0.94963	0.0:0.0:1.0:0.0	.	566	Q6N069	NAA16_HUMAN	F	566	ENSP00000368716:L566F	ENSP00000368716:L566F	L	+	3	2	NAA16	40839733	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.081000	0.76844	2.614000	0.88457	0.585000	0.79938	TTG		0.328	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		8	24	0	0	0	1	0	8	24				
DPP4	1803	broad.mit.edu	37	2	162902056	162902056	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:162902056A>G	ENST00000360534.3	-	5	912	c.352T>C	c.(352-354)Tac>Cac	p.Y118H		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	118					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	ACGTAGTTGTATTCTAAGAGA	0.303																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(352-354)Tac>Cac		dipeptidyl-peptidase 4	Sitagliptin(DB01261)						77.0	81.0	80.0					2																	162902056		2203	4299	6502	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162902056A>G	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.352T>C	2.37:g.162902056A>G	ENSP00000353731:p.Tyr118His						p.Y118H	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			5	912	-			118					Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.352T>C	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	A	16.02	3.005325	0.54254	.	.	ENSG00000197635	ENST00000360534	D	0.95853	-3.83	4.15	1.71	0.24356	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.172847	0.52532	D	0.000061	D	0.95494	0.8536	L	0.49699	1.58	0.37869	D	0.929981	P	0.52316	0.952	D	0.66847	0.947	D	0.93921	0.7206	10	0.66056	D	0.02	-0.4789	6.7626	0.23548	0.801:0.0:0.199:0.0	.	118	P27487	DPP4_HUMAN	H	118	ENSP00000353731:Y118H	ENSP00000353731:Y118H	Y	-	1	0	DPP4	162610302	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	2.381000	0.44336	0.262000	0.21774	0.379000	0.24179	TAC		0.303	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			12	53	0	0	0	1	0	12	53				
MYO5A	4644	broad.mit.edu	37	15	52697557	52697557	+	Missense_Mutation	SNP	C	C	T	rs548669169	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:52697557C>T	ENST00000399231.3	-	9	1223	c.980G>A	c.(979-981)cGa>cAa	p.R327Q	MYO5A_ENST00000356338.6_Missense_Mutation_p.R327Q|MYO5A_ENST00000553916.1_Missense_Mutation_p.R327Q|MYO5A_ENST00000399233.2_Missense_Mutation_p.R327Q|MYO5A_ENST00000358212.6_Missense_Mutation_p.R327Q	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	327	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AGCAAGTATTCGGAAAATTCC	0.378													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20800	0.0		0.001	False		,,,				2504	0.0					ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(979-981)cGa>cAa		myosin VA (heavy chain 12, myoxin)							92.0	82.0	85.0					15																	52697557		1858	4105	5963	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52697557C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.980G>A	15.37:g.52697557C>T	ENSP00000382177:p.Arg327Gln					MYO5A_ENST00000553916.1_Missense_Mutation_p.R327Q|MYO5A_ENST00000356338.6_Missense_Mutation_p.R327Q|MYO5A_ENST00000399233.2_Missense_Mutation_p.R327Q|MYO5A_ENST00000358212.6_Missense_Mutation_p.R327Q	p.R327Q	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	9	1223	-			327			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.980G>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054397	0.55218	.	.	ENSG00000197535	ENST00000399231;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000553916	D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25	5.73	4.81	0.61882	Myosin head, motor domain (2);	0.182257	0.49305	N	0.000148	T	0.80154	0.4571	L	0.27975	0.815	0.54753	D	0.999989	B;B	0.12630	0.006;0.0	B;B	0.21917	0.037;0.001	T	0.75900	-0.3154	10	0.49607	T	0.09	.	11.839	0.52342	0.0:0.8597:0.0:0.1403	.	327;327	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	Q	327	ENSP00000382177:R327Q;ENSP00000382179:R327Q;ENSP00000348693:R327Q;ENSP00000350945:R327Q;ENSP00000451109:R327Q	ENSP00000348693:R327Q	R	-	2	0	MYO5A	50484849	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.041000	0.41213	1.557000	0.49525	0.555000	0.69702	CGA		0.378	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		12	34	0	0	0	1	0	12	34				
KDM7A	80853	broad.mit.edu	37	7	139798694	139798694	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:139798694G>C	ENST00000397560.2	-	14	2000	c.1903C>G	c.(1903-1905)Caa>Gaa	p.Q635E	JHDM1D_ENST00000006967.5_Missense_Mutation_p.Q635E	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		635					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					AGTGGTTTTTGAGATTCTTCA	0.303																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(1903-1905)Caa>Gaa									164.0	149.0	153.0					7																	139798694		1827	4078	5905	SO:0001583	missense	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 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.chr7:139798694G>C																												ENST00000397560.2:c.1903C>G	7.37:g.139798694G>C	ENSP00000380692:p.Gln635Glu					JHDM1D_ENST00000006967.5_Missense_Mutation_p.Q635E	p.Q635E	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN			14	2000	-	Melanoma(164;0.0142)		635					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.1903C>G	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	G	9.458	1.092271	0.20471	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.44881	0.91;0.91	5.72	5.72	0.89469	.	1.135800	0.06415	N	0.721329	T	0.43787	0.1263	L	0.50333	1.59	0.19575	N	0.999966	B	0.17038	0.02	B	0.16722	0.016	T	0.51332	-0.8719	10	0.06891	T	0.86	-0.166	19.8679	0.96839	0.0:0.0:1.0:0.0	.	635	Q6ZMT4	KDM7_HUMAN	E	635	ENSP00000380692:Q635E;ENSP00000006967:Q635E	ENSP00000006967:Q635E	Q	-	1	0	JHDM1D	139445163	0.958000	0.32768	0.156000	0.22583	0.806000	0.45545	4.343000	0.59348	2.694000	0.91930	0.655000	0.94253	CAA		0.303	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			6	39	0	0	0	1	0	6	39				
KIF1B	23095	broad.mit.edu	37	1	10386368	10386368	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:10386368G>T	ENST00000377086.1	+	27	3077	c.2875G>T	c.(2875-2877)Ggg>Tgg	p.G959W	KIF1B_ENST00000263934.6_Missense_Mutation_p.G913W|KIF1B_ENST00000377081.1_Missense_Mutation_p.G959W			O60333	KIF1B_HUMAN	kinesin family member 1B	959					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTTCAGTGACGGGCATGACCC	0.527																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(2875-2877)Ggg>Tgg		kinesin family member 1B							129.0	109.0	116.0					1																	10386368		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10386368G>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2875G>T	1.37:g.10386368G>T	ENSP00000366290:p.Gly959Trp					KIF1B_ENST00000263934.6_Missense_Mutation_p.G913W|KIF1B_ENST00000377081.1_Missense_Mutation_p.G959W	p.G959W			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	27	3077	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	959					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.2875G>T		.	.	.	.	.	.	.	.	.	.	G	27.5	4.841287	0.91197	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.75260	-0.84;-0.91;-0.92	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.83464	0.5260	L	0.48362	1.52	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.975;0.979;0.97;0.999;0.972;0.999	T	0.83287	-0.0035	10	0.52906	T	0.07	.	19.6199	0.95651	0.0:0.0:1.0:0.0	.	945;919;959;933;959;913	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	W	959;913;959;959	ENSP00000263934:G913W;ENSP00000366290:G959W;ENSP00000366284:G959W	ENSP00000263934:G913W	G	+	1	0	KIF1B	10308955	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.869000	0.99810	2.633000	0.89246	0.650000	0.86243	GGG		0.527	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			34	101	1	0	3.11337e-16	1	3.26767e-16	34	101				
APEX1	328	broad.mit.edu	37	14	20924986	20924986	+	Missense_Mutation	SNP	C	C	T	rs374264849		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:20924986C>T	ENST00000216714.3	+	4	674	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	APEX1_ENST00000557365.1_3'UTR|OSGEP_ENST00000206542.4_5'Flank|APEX1_ENST00000557054.1_Intron|APEX1_ENST00000398030.4_Missense_Mutation_p.R136C|APEX1_ENST00000555414.1_Missense_Mutation_p.R136C|OSGEP_ENST00000556252.1_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	136					aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	CCTGCTTTCCCGCCAGTGCCC	0.507								Other BER factors																														ENST00000216714.3																			0				breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9						c.(406-408)Cgc>Tgc	Other BER factors	APEX nuclease (multifunctional DNA repair enzyme) 1	Lucanthone(DB04967)	C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	41.0	41.0	41.0		406,406,406	5.8	1.0	14		41	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	APEX1	NM_001641.3,NM_080648.2,NM_080649.2	180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	136/319,136/319,136/319	20924986	1,13005	2203	4300	6503	SO:0001583	missense	328				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity	g.chr14:20924986C>T	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.406C>T	14.37:g.20924986C>T	ENSP00000216714:p.Arg136Cys					APEX1_ENST00000555414.1_Missense_Mutation_p.R136C|APEX1_ENST00000557054.1_Intron|APEX1_ENST00000557365.1_3'UTR|APEX1_ENST00000398030.4_Missense_Mutation_p.R136C	p.R136C	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	4	674	+	all_cancers(95;0.00123)	all_lung(585;0.235)	136					Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	c.406C>T	CCDS9550.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726476	0.69074	0.0	1.16E-4	ENSG00000100823	ENST00000555414;ENST00000216714;ENST00000553681;ENST00000557344;ENST00000398030;ENST00000555839;ENST00000556054;ENST00000557592;ENST00000557150	D;D;D;D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.79	5.79	0.91817	Endonuclease/exonuclease/phosphatase (2);	0.118399	0.56097	D	0.000022	D	0.92789	0.7707	M	0.93594	3.435	0.80722	D	1	D	0.76494	0.999	P	0.59171	0.853	D	0.93923	0.7207	10	0.87932	D	0	.	12.3007	0.54872	0.2704:0.7295:0.0:0.0	.	136	P27695	APEX1_HUMAN	C	136;136;136;136;136;136;136;119;119	ENSP00000451979:R136C;ENSP00000216714:R136C;ENSP00000451327:R136C;ENSP00000452137:R136C;ENSP00000381111:R136C;ENSP00000452460:R136C;ENSP00000451170:R136C;ENSP00000451060:R119C;ENSP00000452418:R119C	ENSP00000216714:R136C	R	+	1	0	APEX1	19994826	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.649000	0.61433	2.733000	0.93635	0.655000	0.94253	CGC		0.507	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		3	31	0	0	0	1	0	3	31				
SVEP1	79987	broad.mit.edu	37	9	113189972	113189972	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:113189972A>G	ENST00000401783.2	-	36	6210	c.5874T>C	c.(5872-5874)tgT>tgC	p.C1958C	SVEP1_ENST00000297826.5_5'UTR|SVEP1_ENST00000374469.1_Silent_p.C1935C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1958	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGACGAGGTGACAGGCAGGTG	0.498											OREG0019389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(5872-5874)tgT>tgC		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							95.0	100.0	98.0					9																	113189972		2059	4211	6270	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113189972A>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5874T>C	9.37:g.113189972A>G			OREG0019389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1448	SVEP1_ENST00000297826.5_5'UTR|SVEP1_ENST00000374469.1_Silent_p.C1935C	p.C1958C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			36	6210	-			1958			Sushi 9.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.5874T>C	CCDS48004.1																																																																																				0.498	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				43	108	0	0	0	1	0	43	108				
CFAP221	200373	broad.mit.edu	37	2	120388409	120388409	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:120388409T>A	ENST00000413369.3	+	19	1993	c.1906T>A	c.(1906-1908)Tca>Aca	p.S636T	PCDP1_ENST00000602047.1_Missense_Mutation_p.S350T	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					TGGCAAAACATCAGTCTTGAG	0.458																																						ENST00000602047.1																			0											c.(1048-1050)Tca>Aca									190.0	178.0	182.0					2																	120388409		2203	4300	6503	SO:0001583	missense	200373					cilium	calmodulin binding	g.chr2:120388409T>A																												ENST00000413369.3:c.1906T>A	2.37:g.120388409T>A	ENSP00000393222:p.Ser636Thr					PCDP1_ENST00000413369.3_Missense_Mutation_p.S636T	p.S350T			Q4G0U5	PCDP1_HUMAN			20	2160	+	Colorectal(110;0.196)		636						Missense_Mutation	SNP	ENST00000413369.3	37	c.1048T>A	CCDS33282.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.09|14.09	2.431562|2.431562	0.43122|0.43122	.|.	.|.	ENSG00000163075|ENSG00000163075	ENST00000443972;ENST00000413057|ENST00000295220;ENST00000413369	.|T	.|0.35048	.|1.33	4.91|4.91	3.75|3.75	0.43078|0.43078	.|.	.|0.413275	.|0.20834	.|N	.|0.084832	T|T	0.29850|0.29850	0.0746|0.0746	N|N	0.25485|0.25485	0.75|0.75	0.34604|0.34604	D|D	0.716822|0.716822	.|D;P	.|0.55605	.|0.972;0.681	.|P;B	.|0.49301	.|0.606;0.368	T|T	0.35674|0.35674	-0.9779|-0.9779	5|10	.|0.34782	.|T	.|0.22	-7.0816|-7.0816	7.3573|7.3573	0.26727|0.26727	0.0:0.0986:0.0:0.9014|0.0:0.0986:0.0:0.9014	.|.	.|480;636	.|Q4G0U5-3;Q4G0U5	.|.;PCDP1_HUMAN	Q|T	194;183|350;636	.|ENSP00000393222:S636T	.|ENSP00000295220:S350T	H|S	+|+	3|1	2|0	AC069154.2|AC069154.2	120104879|120104879	0.006000|0.006000	0.16342|0.16342	0.131000|0.131000	0.22000|0.22000	0.091000|0.091000	0.18340|0.18340	0.835000|0.835000	0.27531|0.27531	0.893000|0.893000	0.36288|0.36288	0.460000|0.460000	0.39030|0.39030	CAT|TCA		0.458	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			49	122	0	0	0	1	0	49	122				
NLRP7	199713	broad.mit.edu	37	19	55451637	55451637	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:55451637T>C	ENST00000590030.1	-	3	590	c.550A>G	c.(550-552)Aaa>Gaa	p.K184E	NLRP7_ENST00000328092.5_Missense_Mutation_p.K184E|NLRP7_ENST00000588756.1_Missense_Mutation_p.K184E|NLRP7_ENST00000340844.2_Missense_Mutation_p.K184E|NLRP7_ENST00000446217.1_Missense_Mutation_p.K212E|NLRP7_ENST00000448121.2_Missense_Mutation_p.K184E|NLRP7_ENST00000592784.1_Missense_Mutation_p.K184E			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	184	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGCGTGGTTTTCCCCACGCCT	0.567																																						ENST00000588756.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(550-552)Aaa>Gaa		NLR family, pyrin domain containing 7							122.0	124.0	123.0					19																	55451637		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55451637T>C	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.550A>G	19.37:g.55451637T>C	ENSP00000465520:p.Lys184Glu					NLRP7_ENST00000328092.5_Missense_Mutation_p.K184E|NLRP7_ENST00000592784.1_Missense_Mutation_p.K184E|NLRP7_ENST00000590030.1_Missense_Mutation_p.K184E|NLRP7_ENST00000340844.2_Missense_Mutation_p.K184E|NLRP7_ENST00000448121.2_Missense_Mutation_p.K184E|NLRP7_ENST00000446217.1_Missense_Mutation_p.K212E	p.K184E			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1036	-			184			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.550A>G	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.721180	0.68959	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22	1.87	1.87	0.25490	NACHT nucleoside triphosphatase (1);	0.000000	0.34200	N	0.004169	D	0.98394	0.9466	M	0.94101	3.495	0.44079	D	0.996835	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;0.999	D	0.97820	1.0256	10	0.87932	D	0	.	7.7235	0.28746	0.0:0.0:0.0:1.0	.	212;184;184;184	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	E	184;184;184;212	ENSP00000329568:K184E;ENSP00000409137:K184E;ENSP00000339491:K184E;ENSP00000414273:K212E	ENSP00000329568:K184E	K	-	1	0	NLRP7	60143449	1.000000	0.71417	0.181000	0.23098	0.188000	0.23474	5.794000	0.69067	1.119000	0.41883	0.374000	0.22700	AAA		0.567	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		5	168	0	0	0	1	0	5	168				
TRAF3	7187	broad.mit.edu	37	14	103372013	103372013	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:103372013C>T	ENST00000560371.1	+	11	1816	c.1599C>T	c.(1597-1599)ggC>ggT	p.G533G	TRAF3_ENST00000392745.2_Silent_p.G533G|TRAF3_ENST00000351691.5_Silent_p.G508G|TRAF3_ENST00000539721.1_Silent_p.G450G|TRAF3_ENST00000347662.4_Silent_p.G508G	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	533	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TCGCCTCTGGCTGCCCAGTCT	0.468																																						ENST00000560371.1																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30						c.(1597-1599)ggC>ggT		TNF receptor-associated factor 3							72.0	79.0	76.0					14																	103372013		2203	4299	6502	SO:0001819	synonymous_variant	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103372013C>T	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.1599C>T	14.37:g.103372013C>T						TRAF3_ENST00000392745.2_Silent_p.G533G|TRAF3_ENST00000351691.5_Silent_p.G508G|TRAF3_ENST00000347662.4_Silent_p.G508G|TRAF3_ENST00000539721.1_Silent_p.G450G	p.G533G	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	11	1816	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	533			MATH.		B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Silent	SNP	ENST00000560371.1	37	c.1599C>T	CCDS9975.1																																																																																				0.468	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		41	144	0	0	0	1	0	41	144				
INSRR	3645	broad.mit.edu	37	1	156819090	156819090	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:156819090A>G	ENST00000368195.3	-	6	1788	c.1392T>C	c.(1390-1392)ggT>ggC	p.G464G	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	464					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGTTCTGCCGACCTCGCGTGC	0.642																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1390-1392)ggT>ggC		insulin receptor-related receptor							114.0	114.0	114.0					1																	156819090		2203	4300	6503	SO:0001819	synonymous_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156819090A>G	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1392T>C	1.37:g.156819090A>G						NTRK1_ENST00000392302.2_Intron	p.G464G	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			6	1788	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		464					O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.1392T>C	CCDS1160.1																																																																																				0.642	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		15	104	0	0	0	1	0	15	104				
CACNG4	27092	broad.mit.edu	37	17	65026608	65026608	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:65026608G>A	ENST00000262138.3	+	4	474	c.472G>A	c.(472-474)Gtc>Atc	p.V158I	RP11-74H8.1_ENST00000579138.1_RNA|AC005544.1_ENST00000375684.1_5'Flank	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	158					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CGGTATCATCGTCTACATTTC	0.552																																						ENST00000262138.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19						c.(472-474)Gtc>Atc		calcium channel, voltage-dependent, gamma subunit 4							141.0	139.0	140.0					17																	65026608		2203	4300	6503	SO:0001583	missense	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65026608G>A	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.472G>A	17.37:g.65026608G>A	ENSP00000262138:p.Val158Ile						p.V158I	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		4	474	+	all_cancers(12;9.86e-11)		158					B2RCK0	Missense_Mutation	SNP	ENST00000262138.3	37	c.472G>A	CCDS11667.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904994	0.92035	.	.	ENSG00000075461	ENST00000262138	D	0.86956	-2.19	4.94	4.94	0.65067	.	0.056555	0.64402	D	0.000001	D	0.88955	0.6578	M	0.62266	1.93	0.80722	D	1	D	0.60160	0.987	P	0.49683	0.619	D	0.88723	0.3231	10	0.39692	T	0.17	-1.7391	18.1813	0.89779	0.0:0.0:1.0:0.0	.	158	Q9UBN1	CCG4_HUMAN	I	158	ENSP00000262138:V158I	ENSP00000262138:V158I	V	+	1	0	CACNG4	62457070	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.318000	0.96334	2.290000	0.77057	0.561000	0.74099	GTC		0.552	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		60	165	0	0	0	1	0	60	165				
WHSC1	7468	broad.mit.edu	37	4	1961207	1961207	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:1961207C>T	ENST00000382895.3	+	19	3426	c.2995C>T	c.(2995-2997)Cct>Tct	p.P999S	WHSC1_ENST00000382888.3_Missense_Mutation_p.P347S|WHSC1_ENST00000508803.1_Missense_Mutation_p.P999S|WHSC1_ENST00000382891.5_Missense_Mutation_p.P999S|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382892.2_Missense_Mutation_p.P999S	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	999					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGTGAATAAGCCTTACGGGAA	0.512			T	IGH@	MM																																	ENST00000382895.3				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(2995-2997)Cct>Tct		Wolf-Hirschhorn syndrome candidate 1							57.0	51.0	53.0					4																	1961207		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1961207C>T	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2995C>T	4.37:g.1961207C>T	ENSP00000372351:p.Pro999Ser					WHSC1_ENST00000382888.3_Missense_Mutation_p.P347S|WHSC1_ENST00000382891.5_Missense_Mutation_p.P999S|WHSC1_ENST00000382892.2_Missense_Mutation_p.P999S|WHSC1_ENST00000508803.1_Missense_Mutation_p.P999S|WHSC1_ENST00000482415.2_3'UTR	p.P999S	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	19	3426	+		all_epithelial(65;1.34e-05)	999					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.2995C>T	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184686	0.94885	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	5.44	5.44	0.79542	.	0.000000	0.52532	D	0.000061	D	0.92264	0.7546	L	0.58669	1.825	0.80722	D	1	P;D	0.71674	0.768;0.998	B;P	0.56823	0.288;0.807	D	0.92525	0.6028	10	0.66056	D	0.02	.	19.6255	0.95677	0.0:1.0:0.0:0.0	.	347;999	A2A2T2;O96028	.;NSD2_HUMAN	S	999;999;999;999;347	ENSP00000423972:P999S;ENSP00000372347:P999S;ENSP00000372348:P999S;ENSP00000372351:P999S;ENSP00000372344:P347S	ENSP00000372344:P347S	P	+	1	0	WHSC1	1931005	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.640000	0.83355	2.716000	0.92895	0.650000	0.86243	CCT		0.512	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		14	66	0	0	0	1	0	14	66				
PLXNA1	5361	broad.mit.edu	37	3	126737183	126737183	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:126737183A>G	ENST00000393409.2	+	19	3707	c.3707A>G	c.(3706-3708)tAc>tGc	p.Y1236C	PLXNA1_ENST00000251772.4_Missense_Mutation_p.Y1213C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1236	IPT/TIG 4.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGCAGGTGTACTCGGACAGC	0.637																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(3706-3708)tAc>tGc		plexin A1							51.0	47.0	49.0					3																	126737183		2202	4299	6501	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126737183A>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3707A>G	3.37:g.126737183A>G	ENSP00000377061:p.Tyr1236Cys					PLXNA1_ENST00000251772.4_Missense_Mutation_p.Y1213C	p.Y1236C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	19	3707	+			1236			IPT/TIG 4.			Missense_Mutation	SNP	ENST00000393409.2	37	c.3707A>G	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	A	18.83	3.706824	0.68615	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.70045	-0.45;-0.45	4.18	4.18	0.49190	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);	0.000000	0.53938	D	0.000045	T	0.79179	0.4402	M	0.76838	2.35	0.58432	D	0.999999	D	0.55385	0.971	D	0.66351	0.943	T	0.79429	-0.1807	10	0.39692	T	0.17	.	12.5522	0.56233	1.0:0.0:0.0:0.0	.	1236	Q9UIW2	PLXA1_HUMAN	C	1236;1213	ENSP00000377061:Y1236C;ENSP00000251772:Y1213C	ENSP00000251772:Y1213C	Y	+	2	0	PLXNA1	128219873	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.936000	0.63506	1.752000	0.51891	0.383000	0.25322	TAC		0.637	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		3	35	0	0	0	1	0	3	35				
SASH3	54440	broad.mit.edu	37	X	128927038	128927038	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:128927038T>C	ENST00000356892.3	+	7	989	c.875T>C	c.(874-876)cTc>cCc	p.L292P	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	292	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						GAAACACACCTCAATGAGCTG	0.582																																						ENST00000356892.3																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(874-876)cTc>cCc		SAM and SH3 domain containing 3							110.0	85.0	93.0					X																	128927038		2203	4300	6503	SO:0001583	missense	54440							g.chrX:128927038T>C	BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	15975	protein-coding gene	gene with protein product		300441	"""chromosome X open reading frame 9"""	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.875T>C	X.37:g.128927038T>C	ENSP00000349359:p.Leu292Pro						p.L292P	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN			7	989	+			292			SAM.		A6NCH1|A8K7K8|Q5JZ38	Missense_Mutation	SNP	ENST00000356892.3	37	c.875T>C	CCDS14614.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621884	0.87460	.	.	ENSG00000122122	ENST00000443760;ENST00000356892	D	0.96041	-3.89	5.8	5.8	0.92144	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.98270	0.9427	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99357	1.0916	10	0.87932	D	0	-2.1831	14.7964	0.69881	0.0:0.0:0.0:1.0	.	310;292	B4DKQ0;O75995	.;SASH3_HUMAN	P	310;292	ENSP00000349359:L292P	ENSP00000349359:L292P	L	+	2	0	SASH3	128754719	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.955000	0.87856	1.955000	0.56771	0.486000	0.48141	CTC		0.582	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1	NM_018990		45	30	0	0	0	1	0	45	30				
OSMR	9180	broad.mit.edu	37	5	38904532	38904532	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:38904532A>G	ENST00000274276.3	+	9	1614	c.1212A>G	c.(1210-1212)gtA>gtG	p.V404V		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	404	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TGGCGCGAGTACGGTGTGCTG	0.478																																						ENST00000274276.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1210-1212)gtA>gtG		oncostatin M receptor							113.0	100.0	104.0					5																	38904532		2203	4300	6503	SO:0001819	synonymous_variant	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38904532A>G	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1212A>G	5.37:g.38904532A>G							p.V404V	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN			9	1614	+	all_lung(31;0.000365)		404			Fibronectin type-III 1.		Q6P4E8|Q96QJ6	Silent	SNP	ENST00000274276.3	37	c.1212A>G	CCDS3928.1																																																																																				0.478	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		25	77	0	0	0	1	0	25	77				
EPPK1	83481	broad.mit.edu	37	8	144944255	144944255	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:144944255T>C	ENST00000525985.1	-	2	3238	c.3167A>G	c.(3166-3168)cAc>cGc	p.H1056R				P58107	EPIPL_HUMAN	epiplakin 1	1056						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGGAGGTGGTGGTGGCTGGT	0.612																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3166-3168)cAc>cGc		epiplakin 1							34.0	38.0	37.0					8																	144944255		2119	4243	6362	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144944255T>C	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.3167A>G	8.37:g.144944255T>C	ENSP00000436337:p.His1056Arg						p.H1056R			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	3238	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1056					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.3167A>G		.	.	.	.	.	.	.	.	.	.	T	10.52	1.372133	0.24857	.	.	ENSG00000227184	ENST00000525985	T	0.73363	-0.74	4.4	0.328	0.15918	.	.	.	.	.	T	0.63426	0.2510	L	0.32530	0.975	0.09310	N	0.999999	P	0.48998	0.918	P	0.46144	0.505	T	0.53173	-0.8476	9	0.20046	T	0.44	.	8.2901	0.31952	0.4815:0.0:0.0:0.5185	.	1056	E9PPU0	.	R	1056	ENSP00000436337:H1056R	ENSP00000436337:H1056R	H	-	2	0	EPPK1	145016243	0.998000	0.40836	0.134000	0.22075	0.014000	0.08584	0.874000	0.28065	-0.105000	0.12132	-0.490000	0.04691	CAC		0.612	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		3	38	0	0	0	1	0	3	38				
PCDHB14	56122	broad.mit.edu	37	5	140604639	140604639	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140604639A>G	ENST00000239449.4	+	1	1562	c.1562A>G	c.(1561-1563)tAc>tGc	p.Y521C	PCDHB14_ENST00000515856.2_Missense_Mutation_p.Y368C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	521	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGCTGGACTACGAGGCCCTA	0.687																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1561-1563)tAc>tGc									88.0	93.0	91.0					5																	140604639		2203	4300	6503	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604639A>G	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1562A>G	5.37:g.140604639A>G	ENSP00000239449:p.Tyr521Cys					PCDHB14_ENST00000515856.2_Missense_Mutation_p.Y368C	p.Y521C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1562	+			521			Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1562A>G	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	14.05	2.419928	0.42918	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01918	4.56;4.56	4.15	-2.19	0.07015	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.11922	0.0290	M	0.87269	2.87	0.30124	N	0.805433	D	0.89917	1.0	D	0.91635	0.999	T	0.00970	-1.1496	9	0.87932	D	0	.	10.0263	0.42074	0.4756:0.0:0.0:0.5244	.	521	Q9Y5E9	PCDBE_HUMAN	C	368;521	ENSP00000444518:Y368C;ENSP00000239449:Y521C	ENSP00000239449:Y521C	Y	+	2	0	PCDHB14	140584823	0.000000	0.05858	0.978000	0.43139	0.715000	0.41141	0.248000	0.18198	-0.598000	0.05806	-0.530000	0.04314	TAC		0.687	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		68	208	0	0	0	1	0	68	208				
KRTAP9-4	85280	broad.mit.edu	37	17	39406206	39406206	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:39406206A>G	ENST00000334109.2	+	1	268	c.234A>G	c.(232-234)acA>acG	p.T78T		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	78	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCAGCACACCCTGCTGCC	0.617																																						ENST00000334109.2																			0				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(232-234)acA>acG		keratin associated protein 9-4							99.0	91.0	93.0					17																	39406206		2203	4300	6503	SO:0001819	synonymous_variant	85280					keratin filament		g.chr17:39406206A>G	AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"""Keratin associated proteins"""	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.234A>G	17.37:g.39406206A>G							p.T78T	NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	268	+		Breast(137;0.000496)	78			15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].		Q0VAE3	Silent	SNP	ENST00000334109.2	37	c.234A>G	CCDS11386.1																																																																																				0.617	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257306.1			9	201	0	0	0	1	0	9	201				
BAG4	9530	broad.mit.edu	37	8	38066679	38066679	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:38066679C>T	ENST00000287322.4	+	4	1053	c.782C>T	c.(781-783)gCg>gTg	p.A261V	BAG4_ENST00000432471.2_Missense_Mutation_p.A225V	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	261					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				CCTTCATCAGCGCCCTCAGCA	0.572																																						ENST00000287322.4																			0				breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11						c.(781-783)gCg>gTg		BCL2-associated athanogene 4							117.0	83.0	95.0					8																	38066679		2203	4300	6503	SO:0001583	missense	9530				anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity	g.chr8:38066679C>T	AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.782C>T	8.37:g.38066679C>T	ENSP00000287322:p.Ala261Val					BAG4_ENST00000432471.2_Missense_Mutation_p.A225V	p.A261V	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN			4	1053	+	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	261					B4E217|O95818	Missense_Mutation	SNP	ENST00000287322.4	37	c.782C>T	CCDS6104.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.234517	0.22626	.	.	ENSG00000156735	ENST00000432471;ENST00000287322;ENST00000521311	T;D	0.81579	-1.45;-1.51	5.1	4.18	0.49190	.	0.414528	0.25654	N	0.029188	T	0.67961	0.2949	L	0.27053	0.805	0.25963	N	0.982594	B;B	0.15473	0.013;0.013	B;B	0.06405	0.002;0.002	T	0.58945	-0.7546	10	0.44086	T	0.13	-0.2455	9.5874	0.39526	0.0:0.8929:0.0:0.1071	.	225;261	B4E217;O95429	.;BAG4_HUMAN	V	225;261;108	ENSP00000393298:A225V;ENSP00000287322:A261V	ENSP00000287322:A261V	A	+	2	0	BAG4	38185836	0.680000	0.27605	0.205000	0.23548	0.061000	0.15899	1.352000	0.34033	1.181000	0.42912	0.555000	0.69702	GCG		0.572	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874		24	75	0	0	0	1	0	24	75				
AHNAK	79026	broad.mit.edu	37	11	62291660	62291660	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:62291660A>G	ENST00000378024.4	-	5	10503	c.10229T>C	c.(10228-10230)aTt>aCt	p.I3410T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3410					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGAGATGAAATACTCAGGAA	0.393																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10228-10230)aTt>aCt		AHNAK nucleoprotein							75.0	73.0	74.0					11																	62291660		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62291660A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10229T>C	11.37:g.62291660A>G	ENSP00000367263:p.Ile3410Thr					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.I3410T	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	10503	-		Melanoma(852;0.155)	3410					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.10229T>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	11.73	1.725766	0.30593	.	.	ENSG00000124942	ENST00000378024	T	0.00932	5.53	4.22	4.22	0.49857	.	.	.	.	.	T	0.04497	0.0123	M	0.75085	2.285	0.09310	N	1	D	0.64830	0.994	D	0.74348	0.983	T	0.41875	-0.9484	9	0.20046	T	0.44	.	13.3126	0.60388	1.0:0.0:0.0:0.0	.	3410	Q09666	AHNK_HUMAN	T	3410	ENSP00000367263:I3410T	ENSP00000367263:I3410T	I	-	2	0	AHNAK	62048236	0.875000	0.30112	0.061000	0.19648	0.648000	0.38561	4.492000	0.60334	1.671000	0.50874	0.235000	0.17854	ATT		0.393	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		35	68	0	0	0	1	0	35	68				
TLR4	7099	broad.mit.edu	37	9	120476615	120476615	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:120476615G>A	ENST00000355622.6	+	3	2310	c.2209G>A	c.(2209-2211)Gtg>Atg	p.V737M	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.V697M	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	737	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GATTGTTGTGGTGTCCCAGCA	0.478																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(2209-2211)Gtg>Atg		toll-like receptor 4							82.0	85.0	84.0					9																	120476615		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476615G>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2209G>A	9.37:g.120476615G>A	ENSP00000363089:p.Val737Met					TLR4_ENST00000394487.4_Missense_Mutation_p.V697M|TLR4_ENST00000472304.1_3'UTR	p.V737M	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	2310	+			737			TIR.		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.2209G>A	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530518	0.64860	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.09723	2.95;2.95	6.03	4.95	0.65309	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.191326	0.37095	N	0.002257	T	0.17408	0.0418	L	0.28115	0.83	0.41478	D	0.988147	D	0.76494	0.999	D	0.80764	0.994	T	0.00915	-1.1516	10	0.35671	T	0.21	.	9.0968	0.36645	0.1104:0.1532:0.7364:0.0	.	737	O00206	TLR4_HUMAN	M	697;737	ENSP00000377997:V697M;ENSP00000363089:V737M	ENSP00000363089:V737M	V	+	1	0	TLR4	119516436	0.997000	0.39634	1.000000	0.80357	0.894000	0.52154	1.712000	0.37940	2.861000	0.98227	0.655000	0.94253	GTG		0.478	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		16	65	0	0	0	1	0	16	65				
PIWIL1	9271	broad.mit.edu	37	12	130827178	130827178	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:130827178C>T	ENST00000245255.3	+	2	314	c.42C>T	c.(40-42)cgC>cgT	p.R14R		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	14					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAAGGGCCCGCGGTCAGGAGA	0.527																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(40-42)cgC>cgT		piwi-like RNA-mediated gene silencing 1							31.0	42.0	38.0					12																	130827178		2203	4300	6503	SO:0001819	synonymous_variant	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130827178C>T	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.42C>T	12.37:g.130827178C>T							p.R14R	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	2	314	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		14					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	ENST00000245255.3	37	c.42C>T	CCDS9268.1																																																																																				0.527	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			11	36	0	0	0	1	0	11	36				
ZSCAN25	221785	broad.mit.edu	37	7	99217536	99217536	+	Missense_Mutation	SNP	C	C	T	rs145815306		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:99217536C>T	ENST00000394152.2	+	4	634	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	ZSCAN25_ENST00000466948.1_3'UTR|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.R103W|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.R103W	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	103	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)										CGCCTGGATCCGGGAGCATGG	0.642													C|||	0	0.0	0.0	0.0	5008	,	,		18061	0.0		0.0	False		,,,				2504	0.0					ENST00000394152.2																			0											c.(307-309)Cgg>Tgg		zinc finger and SCAN domain containing 25		C	TRP/ARG	2,4404		0,2,2201	36.0	37.0	37.0		307	1.0	0.9	7	dbSNP_134	37	22,8578		0,22,4278	yes	missense	ZNF498	NM_145115.2	101	0,24,6479	TT,TC,CC		0.2558,0.0454,0.1845	benign	103/545	99217536	24,12982	2203	4300	6503	SO:0001583	missense	221785							g.chr7:99217536C>T	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.307C>T	7.37:g.99217536C>T	ENSP00000377708:p.Arg103Trp					ZSCAN25_ENST00000262941.6_Missense_Mutation_p.R103W|ZSCAN25_ENST00000466948.1_3'UTR|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.R103W	p.R103W	NM_145115.2	NP_660090.2					4	634	+								A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.307C>T	CCDS5671.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	7.037	0.561751	0.13498	4.54E-4	0.002558	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.04809	3.55;3.55;3.55	3.94	1.02	0.19986	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.639158	0.13079	N	0.415406	T	0.07143	0.0181	M	0.73962	2.25	0.30075	N	0.809704	B;B	0.14012	0.001;0.009	B;B	0.08055	0.001;0.003	T	0.09422	-1.0675	10	0.87932	D	0	-11.5851	5.5934	0.17313	0.0:0.6163:0.0:0.3837	.	103;103	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	W	103	ENSP00000377708:R103W;ENSP00000334800:R103W;ENSP00000262941:R103W	ENSP00000262941:R103W	R	+	1	2	ZNF498	99055472	0.001000	0.12720	0.894000	0.35097	0.101000	0.19017	-0.497000	0.06428	0.202000	0.20498	-0.152000	0.13540	CGG		0.642	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		21	54	0	0	0	1	0	21	54				
SLC22A15	55356	broad.mit.edu	37	1	116579933	116579933	+	Silent	SNP	G	G	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:116579933G>T	ENST00000369503.4	+	8	1225	c.1095G>T	c.(1093-1095)cgG>cgT	p.R365R	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	365					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GGTTTGGTCGGAAGCGAACAT	0.343																																						ENST00000369503.4																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(1093-1095)cgG>cgT		solute carrier family 22, member 15							192.0	181.0	184.0					1																	116579933		1832	4092	5924	SO:0001819	synonymous_variant	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116579933G>T	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.1095G>T	1.37:g.116579933G>T						SLC22A15_ENST00000481127.1_3'UTR	p.R365R	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	8	1225	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	365					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Silent	SNP	ENST00000369503.4	37	c.1095G>T	CCDS44198.1																																																																																				0.343	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		40	138	1	0	4.16155e-14	1	4.34957e-14	40	138				
EMP1	2012	broad.mit.edu	37	12	13367596	13367596	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:13367596G>A	ENST00000256951.5	+	5	644	c.445G>A	c.(445-447)Gtt>Att	p.V149I	EMP1_ENST00000537612.1_Intron|EMP1_ENST00000544053.1_3'UTR|EMP1_ENST00000396301.3_Silent_p.A136A|EMP1_ENST00000431267.2_Missense_Mutation_p.V82I|EMP1_ENST00000542289.1_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	149					cell growth (GO:0016049)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		CATCATCGGCGTTCTCTATCT	0.532																																						ENST00000256951.5																			0											c.(445-447)Gtt>Att		epithelial membrane protein 1							149.0	129.0	136.0					12																	13367596		2203	4300	6503	SO:0001583	missense	2012				cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction		g.chr12:13367596G>A	U43916	CCDS8660.1	12p12.3	2008-08-04				ENSG00000134531			3333	protein-coding gene	gene with protein product		602333				8996089, 9126480	Standard	NM_001423		Approved	TMP, CL-20	uc001rbr.3	P54849		ENST00000256951.5:c.445G>A	12.37:g.13367596G>A	ENSP00000256951:p.Val149Ile					EMP1_ENST00000542289.1_Intron|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000396301.3_Silent_p.A136A|EMP1_ENST00000544053.1_3'UTR|EMP1_ENST00000431267.2_Missense_Mutation_p.V82I	p.V149I	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	5	644	+		Prostate(47;0.194)	149					B2R5N1|B4DRR1|O00681|Q13481|Q13834	Missense_Mutation	SNP	ENST00000256951.5	37	c.445G>A	CCDS8660.1	.	.	.	.	.	.	.	.	.	.	G	0.452	-0.893471	0.02491	.	.	ENSG00000134531	ENST00000256951;ENST00000431267	D;D	0.89875	-2.58;-2.58	5.44	-5.5	0.02576	.	0.497869	0.23000	N	0.053083	T	0.67287	0.2877	N	0.08118	0	0.58432	D	0.999999	B	0.16166	0.016	B	0.10450	0.005	T	0.58002	-0.7713	10	0.02654	T	1	-12.899	9.4146	0.38514	0.4157:0.0:0.4822:0.1021	.	149	P54849	EMP1_HUMAN	I	149;82	ENSP00000256951:V149I;ENSP00000410755:V82I	ENSP00000256951:V149I	V	+	1	0	EMP1	13258863	0.000000	0.05858	0.699000	0.30290	0.326000	0.28443	-0.880000	0.04183	-0.710000	0.05001	-1.105000	0.02106	GTT		0.532	EMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401019.1	NM_001423		45	70	0	0	0	1	0	45	70				
CHFR	55743	broad.mit.edu	37	12	133438054	133438054	+	Splice_Site	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:133438054T>A	ENST00000432561.2	-	7	859	c.786A>T	c.(784-786)ggA>ggT	p.G262G	CHFR_ENST00000450056.2_Splice_Site_p.G250G|CHFR_ENST00000266880.7_Splice_Site_p.G262G|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000443047.2_Splice_Site_p.G170G|CHFR_ENST00000315585.7_Splice_Site_p.G221G			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	262					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GACACTAACCTCCTCTCATTT	0.577																																						ENST00000266880.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.e7+1		checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase							227.0	185.0	199.0					12																	133438054		2203	4300	6503	SO:0001630	splice_region_variant	55743				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133438054T>A	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.787+1A>T	12.37:g.133438054T>A						CHFR_ENST00000432561.2_Splice_Site_p.G262_splice|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000315585.7_Splice_Site_p.G221_splice|CHFR_ENST00000450056.2_Splice_Site_p.G250_splice|CHFR_ENST00000443047.2_Splice_Site_p.G170_splice	p.G262_splice			Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	7	849	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	262					A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Splice_Site	SNP	ENST00000432561.2	37	c.787_splice	CCDS53849.1																																																																																				0.577	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2		Silent	27	116	0	0	0	1	0	27	116				
SLC7A2	6542	broad.mit.edu	37	8	17412171	17412171	+	Silent	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:17412171A>G	ENST00000494857.1	+	8	1376	c.1158A>G	c.(1156-1158)acA>acG	p.T386T	SLC7A2_ENST00000398090.3_Intron|SLC7A2_ENST00000522656.1_Silent_p.T386T|SLC7A2_ENST00000004531.10_Silent_p.T426T|SLC7A2_ENST00000470360.1_Intron	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	386					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	AAACGAAGACACCAATAATTG	0.423																																						ENST00000494857.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(1156-1158)acA>acG		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						184.0	176.0	179.0					8																	17412171		2203	4300	6503	SO:0001819	synonymous_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17412171A>G	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1158A>G	8.37:g.17412171A>G						SLC7A2_ENST00000522656.1_Silent_p.T386T|SLC7A2_ENST00000398090.3_Intron|SLC7A2_ENST00000004531.10_Silent_p.T426T|SLC7A2_ENST00000470360.1_Intron	p.T386T	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	8	1376	+			386					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	c.1158A>G	CCDS34852.1																																																																																				0.423	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		35	247	0	0	0	1	0	35	247				
IGF2BP2	10644	broad.mit.edu	37	3	185431246	185431246	+	Intron	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:185431246C>T	ENST00000382199.2	-	3	335				IGF2BP2_ENST00000457616.2_Intron|IGF2BP2_ENST00000346192.3_Intron|IGF2BP2_ENST00000421047.2_Intron|C3orf65_ENST00000296270.1_Missense_Mutation_p.P11S	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2						anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CTGTCTAAGGCCCTTTCCAGA	0.478																																						ENST00000296270.1																			0											c.(31-33)Ccc>Tcc									99.0	95.0	96.0					3																	185431246		1880	4129	6009	SO:0001627	intron_variant	646600							g.chr3:185431246C>T	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.240-15111G>A	3.37:g.185431246C>T						IGF2BP2_ENST00000346192.3_Intron|IGF2BP2_ENST00000457616.2_Intron|IGF2BP2_ENST00000382199.2_Intron|IGF2BP2_ENST00000421047.2_Intron	p.P11S					OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		1	167	+	all_cancers(143;1.5e-10)|Ovarian(172;0.0386)							A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	37	c.31C>T	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387083	0.25031	.	.	ENSG00000163915	ENST00000296270	.	.	.	3.55	-2.86	0.05717	.	.	.	.	.	T	0.26376	0.0644	.	.	.	0.09310	N	1	B	0.24576	0.106	B	0.20184	0.028	T	0.23940	-1.0174	7	0.87932	D	0	.	4.4101	0.11429	0.1644:0.3183:0.0:0.5173	.	11	Q96M15	CC065_HUMAN	S	11	.	ENSP00000296270:P11S	P	+	1	0	C3orf65	186913940	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.263000	0.02850	-0.688000	0.05155	-0.272000	0.10252	CCC		0.478	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		7	65	0	0	0	1	0	7	65				
ZNF543	125919	broad.mit.edu	37	19	57839316	57839316	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:57839316T>C	ENST00000321545.4	+	4	831	c.486T>C	c.(484-486)ggT>ggC	p.G162G		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAGATGATGGTGTATGTACAA	0.443																																						ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(484-486)ggT>ggC		zinc finger protein 543							82.0	82.0	82.0					19																	57839316		2203	4300	6503	SO:0001819	synonymous_variant	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839316T>C	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.486T>C	19.37:g.57839316T>C							p.G162G	NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	831	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	162					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Silent	SNP	ENST00000321545.4	37	c.486T>C	CCDS33130.1																																																																																				0.443	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		5	101	0	0	0	1	0	5	101				
PPP1R18	170954	broad.mit.edu	37	6	30653575	30653575	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:30653575T>A	ENST00000274853.3	-	1	2097	c.221A>T	c.(220-222)gAg>gTg	p.E74V	NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_Missense_Mutation_p.E74V|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	74						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GACCGCAGACTCATCCGGGTC	0.657																																						ENST00000274853.3																			0											c.(220-222)gAg>gTg		protein phosphatase 1, regulatory subunit 18							36.0	44.0	41.0					6																	30653575		1316	2586	3902	SO:0001583	missense	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653575T>A	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.221A>T	6.37:g.30653575T>A	ENSP00000274853:p.Glu74Val					PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Missense_Mutation_p.E74V	p.E74V	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2097	-			74					A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Missense_Mutation	SNP	ENST00000274853.3	37	c.221A>T	CCDS43444.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.130386	0.56721	.	.	ENSG00000146112	ENST00000274853;ENST00000399199;ENST00000376424	T;T	0.34472	1.36;1.36	5.03	5.03	0.67393	.	0.000000	0.45606	D	0.000359	T	0.34658	0.0905	L	0.32530	0.975	0.38664	D	0.952153	D	0.60575	0.988	P	0.60012	0.867	T	0.30060	-0.9991	10	0.87932	D	0	-7.2437	13.8771	0.63660	0.0:0.0:0.0:1.0	.	74	Q6NYC8	PPR18_HUMAN	V	74	ENSP00000274853:E74V;ENSP00000382150:E74V	ENSP00000274853:E74V	E	-	2	0	KIAA1949	30761554	0.620000	0.27068	0.996000	0.52242	0.355000	0.29361	2.941000	0.49011	2.117000	0.64856	0.533000	0.62120	GAG		0.657	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		17	63	0	0	0	1	0	17	63				
DSCAM	1826	broad.mit.edu	37	21	41385310	41385310	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:41385310T>C	ENST00000400454.1	-	33	6167	c.5690A>G	c.(5689-5691)gAc>gGc	p.D1897G		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1897				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATGTATGAGGTCACCTAGAAG	0.488																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(5689-5691)gAc>gGc		Down syndrome cell adhesion molecule							35.0	35.0	35.0					21																	41385310		2005	4162	6167	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41385310T>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5690A>G	21.37:g.41385310T>C	ENSP00000383303:p.Asp1897Gly						p.D1897G	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			33	6167	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1897	HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).				O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.5690A>G	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	.	15.84	2.953177	0.53293	.	.	ENSG00000171587	ENST00000400454	T	0.61859	0.07	5.39	5.39	0.77823	.	0.049978	0.85682	D	0.000000	T	0.36331	0.0963	N	0.03608	-0.345	0.51482	D	0.999929	P	0.34522	0.455	B	0.32465	0.146	T	0.48007	-0.9072	10	0.72032	D	0.01	.	15.4428	0.75200	0.0:0.0:0.0:1.0	.	1897	O60469	DSCAM_HUMAN	G	1897	ENSP00000383303:D1897G	ENSP00000383303:D1897G	D	-	2	0	DSCAM	40307180	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.495000	0.81514	2.044000	0.60594	0.460000	0.39030	GAC		0.488	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		6	42	0	0	0	1	0	6	42				
HLA-A	3105	broad.mit.edu	37	6	29912358	29912358	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:29912358T>C	ENST00000396634.1	+	7	1318	c.977T>C	c.(976-978)gTg>gCg	p.V326A	HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Missense_Mutation_p.V326A|HLA-A_ENST00000376806.5_Missense_Mutation_p.V326A			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	326					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ACTGGAGCTGTGGTCGCTGCC	0.587									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(976-978)gTg>gCg		major histocompatibility complex, class I, A							110.0	105.0	107.0					6																	29912358		1511	2709	4220	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29912358T>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.977T>C	6.37:g.29912358T>C	ENSP00000379873:p.Val326Ala	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Missense_Mutation_p.V326A|HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376806.5_Missense_Mutation_p.V326A	p.V326A			P30443	1A01_HUMAN			7	1318	+			326					O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.977T>C	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	13.22	2.172560	0.38315	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809	T;T;T	0.00784	5.7;5.7;5.7	3.69	2.44	0.29823	.	.	.	.	.	T	0.00724	0.0024	M	0.90252	3.1	0.09310	N	1	B;B;B;B;B	0.30281	0.096;0.16;0.091;0.16;0.275	B;B;B;B;B	0.32980	0.024;0.156;0.097;0.156;0.156	T	0.40251	-0.9573	9	0.87932	D	0	.	6.1275	0.20187	0.0:0.1235:0.0:0.8765	.	205;326;326;326;326	B4DVB9;P16188;Q5SRN5;P30455;P04439	.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	A	326	ENSP00000379873:V326A;ENSP00000366002:V326A;ENSP00000366005:V326A	ENSP00000366002:V326A	V	+	2	0	HLA-A	30020337	0.000000	0.05858	0.183000	0.23137	0.893000	0.52053	-0.659000	0.05323	0.552000	0.29026	0.397000	0.26171	GTG		0.587	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		24	124	0	0	0	1	0	24	124				
PCDHA10	56139	broad.mit.edu	37	5	140236912	140236912	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140236912C>T	ENST00000307360.5	+	1	1279	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R427W|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	427	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGACCGCGCGGGACGGGGG	0.647																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1279-1281)Cgg>Tgg									107.0	103.0	104.0					5																	140236912		2197	4274	6471	SO:0001583	missense	56139							g.chr5:140236912C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1279C>T	5.37:g.140236912C>T	ENSP00000304234:p.Arg427Trp					PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R427W|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.R427W	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1279	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1279C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	c	1.577	-0.532706	0.04112	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.54866	4.63;0.55	3.96	-3.24	0.05094	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.29158	0.0725	N	0.25825	0.765	0.09310	N	1	P;P;B	0.41748	0.761;0.589;0.048	B;B;B	0.34779	0.189;0.16;0.052	T	0.19549	-1.0302	9	0.87932	D	0	.	2.8682	0.05608	0.4522:0.2977:0.1017:0.1485	.	427;427;427	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	W	427	ENSP00000421030:R427W;ENSP00000304234:R427W	ENSP00000304234:R427W	R	+	1	2	PCDHA10	140217096	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.579000	0.02123	-0.455000	0.07054	-0.231000	0.12243	CGG		0.647	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		85	235	0	0	0	1	0	85	235				
OTOGL	283310	broad.mit.edu	37	12	80729848	80729848	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:80729848C>T	ENST00000547103.1	+	38	4471	c.4465C>T	c.(4465-4467)Cct>Tct	p.P1489S	OTOGL_ENST00000458043.2_Missense_Mutation_p.P1501S			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1489					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CGTGGAAATGCCTGACTGTGG	0.433																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(4501-4503)Cct>Tct		otogelin-like							92.0	89.0	90.0					12																	80729848		1912	4115	6027	SO:0001583	missense	283310							g.chr12:80729848C>T	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.4465C>T	12.37:g.80729848C>T	ENSP00000447211:p.Pro1489Ser					OTOGL_ENST00000547103.1_Missense_Mutation_p.P1489S	p.P1501S	NM_173591.3	NP_775862.3					38	4507	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.4501C>T		.	.	.	.	.	.	.	.	.	.	C	23.5	4.421656	0.83559	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.19394	2.15;2.16	5.03	5.03	0.67393	.	.	.	.	.	T	0.38825	0.1055	L	0.54323	1.7	0.42638	D	0.9934	.	.	.	.	.	.	T	0.10660	-1.0620	7	0.54805	T	0.06	.	18.7143	0.91670	0.0:1.0:0.0:0.0	.	.	.	.	S	1489;1501	ENSP00000447211:P1489S;ENSP00000400895:P1501S	ENSP00000400895:P1501S	P	+	1	0	OTOGL	79253979	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.129000	0.64739	2.486000	0.83907	0.555000	0.69702	CCT		0.433	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		7	62	0	0	0	1	0	7	62				
WFIKKN1	117166	broad.mit.edu	37	16	683135	683135	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:683135T>C	ENST00000319070.2	+	2	1047	c.725T>C	c.(724-726)gTc>gCc	p.V242A		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	242	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				AACGTGGTGGTCACCAGCATC	0.667																																						ENST00000319070.2																			0				breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(724-726)gTc>gCc		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1							29.0	30.0	30.0					16																	683135		2188	4283	6471	SO:0001583	missense	117166					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr16:683135T>C	AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30912	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20A"""	608021	"""chromosome 16 open reading frame 12"""	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.725T>C	16.37:g.683135T>C	ENSP00000324763:p.Val242Ala						p.V242A	NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN			2	1047	+		Hepatocellular(780;0.00335)	242			Ig-like C2-type.		Q7LDW0|Q8NBQ1|Q96S20	Missense_Mutation	SNP	ENST00000319070.2	37	c.725T>C	CCDS10414.1	.	.	.	.	.	.	.	.	.	.	t	20.3	3.961671	0.74016	.	.	ENSG00000127578	ENST00000319070	T	0.66460	-0.21	4.7	3.52	0.40303	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.064928	0.64402	D	0.000008	T	0.75309	0.3832	M	0.65677	2.01	0.41277	D	0.98688	D	0.64830	0.994	P	0.62298	0.9	T	0.77973	-0.2386	10	0.72032	D	0.01	.	9.984	0.41830	0.0:0.0:0.1701:0.8299	.	242	Q96NZ8	WFKN1_HUMAN	A	242	ENSP00000324763:V242A	ENSP00000324763:V242A	V	+	2	0	WFIKKN1	623136	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	5.853000	0.69496	1.757000	0.51966	0.454000	0.30748	GTC		0.667	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206731.2	NM_053284		17	29	0	0	0	1	0	17	29				
CYLD	1540	broad.mit.edu	37	16	50815236	50815236	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:50815236T>C	ENST00000427738.3	+	9	1803	c.1598T>C	c.(1597-1599)tTt>tCt	p.F533S	CYLD_ENST00000564326.1_Missense_Mutation_p.F530S|CYLD_ENST00000566206.1_Missense_Mutation_p.F530S|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000398568.2_Missense_Mutation_p.F530S|CYLD_ENST00000569418.1_Missense_Mutation_p.F530S|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000540145.1_Missense_Mutation_p.F533S|CYLD_ENST00000311559.9_Missense_Mutation_p.F533S			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	533	CAP-Gly 3. {ECO:0000255|PROSITE- ProRule:PRU00045}.|Interaction with IKBKG/NEMO.|Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAGGCGCTGTTTGTGAAACTG	0.473			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"""Mis, N, F, S"""	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(1597-1599)tTt>tCt		cylindromatosis (turban tumor syndrome)							103.0	99.0	100.0					16																	50815236		1930	4138	6068	SO:0001583	missense	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50815236T>C	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1598T>C	16.37:g.50815236T>C	ENSP00000392025:p.Phe533Ser					CYLD_ENST00000427738.3_Missense_Mutation_p.F533S|CYLD_ENST00000398568.2_Missense_Mutation_p.F530S|CYLD_ENST00000311559.9_Missense_Mutation_p.F533S|CYLD_ENST00000569418.1_Missense_Mutation_p.F530S|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000566206.1_Missense_Mutation_p.F530S|CYLD_ENST00000564326.1_Missense_Mutation_p.F530S	p.F533S			Q9NQC7	CYLD_HUMAN			10	2013	+		all_cancers(37;0.0156)	533			CAP-Gly 3.|Interaction with IKBKG/NEMO.|Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.1598T>C	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	T	31	5.086206	0.94100	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	D;D;D	0.90900	-2.75;-2.75;-2.75	6.17	6.17	0.99709	Cytoskeleton-associated protein, Gly-rich domain (4);	0.000000	0.85682	D	0.000000	D	0.96673	0.8914	M	0.94101	3.495	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.85130	0.996;0.997;0.994;0.996	D	0.97496	1.0057	10	0.87932	D	0	-28.0237	16.8222	0.85835	0.0:0.0:0.0:1.0	.	530;533;530;533	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	S	533;533;530;530	ENSP00000445447:F533S;ENSP00000308928:F533S;ENSP00000381574:F530S	ENSP00000308928:F533S	F	+	2	0	CYLD	49372737	1.000000	0.71417	0.994000	0.49952	0.966000	0.64601	7.649000	0.83500	2.371000	0.80710	0.533000	0.62120	TTT		0.473	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			22	44	0	0	0	1	0	22	44				
DUSP27	92235	broad.mit.edu	37	1	167097313	167097313	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:167097313A>G	ENST00000361200.2	+	6	3111	c.2945A>G	c.(2944-2946)aAa>aGa	p.K982R	DUSP27_ENST00000271385.5_Missense_Mutation_p.K982R|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.K982R			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	982	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AAGTTTTCCAAATCCCAGTCA	0.517																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(2944-2946)aAa>aGa		dual specificity phosphatase 27 (putative)							78.0	73.0	75.0					1																	167097313		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097313A>G	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2945A>G	1.37:g.167097313A>G	ENSP00000354483:p.Lys982Arg					DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.K982R|DUSP27_ENST00000271385.5_Missense_Mutation_p.K982R	p.K982R			Q5VZP5	DUS27_HUMAN			6	3111	+			982			Ser-rich.		A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.2945A>G	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	A	9.044	0.990372	0.18966	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03065	4.06;4.06;4.06	5.42	4.31	0.51392	.	0.000000	0.53938	D	0.000057	T	0.01124	0.0037	L	0.50919	1.6	0.27564	N	0.950085	B	0.19073	0.033	B	0.20767	0.031	T	0.48387	-0.9040	10	0.11794	T	0.64	-28.9461	4.4509	0.11619	0.715:0.0:0.285:0.0	.	982	Q5VZP5	DUS27_HUMAN	R	982	ENSP00000354483:K982R;ENSP00000271385:K982R;ENSP00000404874:K982R	ENSP00000271385:K982R	K	+	2	0	DUSP27	165363937	1.000000	0.71417	0.996000	0.52242	0.768000	0.43524	2.676000	0.46883	2.047000	0.60756	0.523000	0.50628	AAA		0.517	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		9	108	0	0	0	1	0	9	108				
RFPL3	10738	broad.mit.edu	37	22	32756465	32756465	+	Silent	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:32756465T>C	ENST00000249007.4	+	2	805	c.600T>C	c.(598-600)tcT>tcC	p.S200S	RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000397468.1_Silent_p.S171S|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000382088.3_Silent_p.S171S|RFPL3S_ENST00000400234.1_3'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	200	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCAGAGAATCTGTTCACTGCA	0.577																																						ENST00000249007.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(598-600)tcT>tcC		ret finger protein-like 3							115.0	112.0	113.0					22																	32756465		2203	4300	6503	SO:0001819	synonymous_variant	10738						zinc ion binding	g.chr22:32756465T>C	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.600T>C	22.37:g.32756465T>C						RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000382088.3_Silent_p.S171S|RFPL3_ENST00000397468.1_Silent_p.S171S	p.S200S	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN			2	805	+			200			B30.2/SPRY.		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Silent	SNP	ENST00000249007.4	37	c.600T>C	CCDS43011.1																																																																																				0.577	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		32	131	0	0	0	1	0	32	131				
UGT3A1	133688	broad.mit.edu	37	5	35954387	35954387	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:35954387G>A	ENST00000274278.3	-	7	1846	c.1489C>T	c.(1489-1491)Ctg>Ttg	p.L497L	UGT3A1_ENST00000513233.1_5'Flank	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	497						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATAGTGCCCAGAGTGAGCCCC	0.587																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(1489-1491)Ctg>Ttg		UDP glycosyltransferase 3 family, polypeptide A1							101.0	76.0	84.0					5																	35954387		2203	4300	6503	SO:0001819	synonymous_variant	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35954387G>A		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1489C>T	5.37:g.35954387G>A							p.L497L	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1846	-	all_lung(31;0.000197)		497					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Silent	SNP	ENST00000274278.3	37	c.1489C>T	CCDS3913.1																																																																																				0.587	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		10	46	0	0	0	1	0	10	46				
RNF123	63891	broad.mit.edu	37	3	49753038	49753038	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:49753038A>G	ENST00000327697.6	+	32	3185	c.3041A>G	c.(3040-3042)cAc>cGc	p.H1014R	RNF123_ENST00000433785.1_Missense_Mutation_p.H126R	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1014					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTGCAGCAGCACATGGCGGAC	0.607																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(3040-3042)cAc>cGc		ring finger protein 123							58.0	52.0	54.0					3																	49753038		2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49753038A>G	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.3041A>G	3.37:g.49753038A>G	ENSP00000328287:p.His1014Arg					RNF123_ENST00000433785.1_Missense_Mutation_p.H126R	p.H1014R	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	32	3185	+			1014					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.3041A>G	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.292758	0.80914	.	.	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000433785	T;T	0.61742	0.08;0.08	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.73567	0.3603	M	0.68952	2.095	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	T	0.76049	-0.3101	10	0.62326	D	0.03	-33.8762	14.8653	0.70409	1.0:0.0:0.0:0.0	.	1014	Q5XPI4	RN123_HUMAN	R	1014;1014;126	ENSP00000328287:H1014R;ENSP00000416156:H126R	ENSP00000328287:H1014R	H	+	2	0	RNF123	49728042	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.790000	0.91844	2.094000	0.63399	0.533000	0.62120	CAC		0.607	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		16	37	0	0	0	1	0	16	37				
EYA1	2138	broad.mit.edu	37	8	72211461	72211461	+	Missense_Mutation	SNP	G	G	A	rs200923204		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:72211461G>A	ENST00000340726.3	-	9	1286	c.647C>T	c.(646-648)cCg>cTg	p.P216L	EYA1_ENST00000388742.4_Missense_Mutation_p.P216L|EYA1_ENST00000419131.1_Missense_Mutation_p.P211L|EYA1_ENST00000388740.3_Missense_Mutation_p.P183L|EYA1_ENST00000388741.2_Missense_Mutation_p.P182L|EYA1_ENST00000388743.2_Missense_Mutation_p.P215L|EYA1_ENST00000303824.7_Missense_Mutation_p.P210L	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	216					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GGGATAAGACGGATAGTCCTA	0.423																																						ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	GRCh37	CM085391	EYA1	M		c.(646-648)cCg>cTg		eyes absent homolog 1 (Drosophila)							191.0	166.0	174.0					8																	72211461		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72211461G>A	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.647C>T	8.37:g.72211461G>A	ENSP00000342626:p.Pro216Leu					EYA1_ENST00000419131.1_Missense_Mutation_p.P211L|EYA1_ENST00000388741.2_Missense_Mutation_p.P182L|EYA1_ENST00000388740.3_Missense_Mutation_p.P183L|EYA1_ENST00000303824.7_Missense_Mutation_p.P210L|EYA1_ENST00000388742.4_Missense_Mutation_p.P216L|EYA1_ENST00000388743.2_Missense_Mutation_p.P215L	p.P216L	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		9	1286	-	Breast(64;0.046)		216					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.647C>T	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565335	0.27915	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.03	5.03	0.67393	.	0.282534	0.39909	N	0.001232	D	0.84401	0.5464	M	0.71036	2.16	0.80722	D	1	P;P;B;P;P	0.42161	0.608;0.661;0.434;0.772;0.661	B;B;B;B;B	0.35655	0.057;0.102;0.102;0.079;0.207	D	0.87402	0.2370	10	0.72032	D	0.01	-14.3552	18.7004	0.91618	0.0:0.0:1.0:0.0	.	210;143;183;216;211	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	L	216;216;184;183;210;182;215;211	ENSP00000373394:P216L;ENSP00000342626:P216L;ENSP00000373392:P183L;ENSP00000303221:P210L;ENSP00000373393:P182L;ENSP00000373395:P215L;ENSP00000410176:P211L	ENSP00000303221:P210L	P	-	2	0	EYA1	72374015	1.000000	0.71417	0.932000	0.37286	0.165000	0.22458	6.209000	0.72171	2.493000	0.84123	0.591000	0.81541	CCG		0.423	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		17	104	0	0	0	1	0	17	104				
TTYH2	94015	broad.mit.edu	37	17	72227104	72227104	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:72227104A>C	ENST00000269346.4	+	3	454	c.380A>C	c.(379-381)gAt>gCt	p.D127A	TTYH2_ENST00000529107.1_Missense_Mutation_p.D106A	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	127						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TCCTTGGACGATGCCAACCAC	0.577																																						ENST00000269346.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						c.(379-381)gAt>gCt		tweety family member 2							207.0	158.0	175.0					17																	72227104		2203	4300	6503	SO:0001583	missense	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72227104A>C		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.380A>C	17.37:g.72227104A>C	ENSP00000269346:p.Asp127Ala					TTYH2_ENST00000529107.1_Missense_Mutation_p.D106A	p.D127A	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN			3	454	+			127					B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	c.380A>C	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.003089	0.35320	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.10960	2.82;2.82	5.35	4.28	0.50868	.	0.091222	0.64402	D	0.000001	T	0.07098	0.0180	N	0.08118	0	0.80722	D	1	B;B	0.32753	0.383;0.084	B;B	0.37267	0.245;0.045	T	0.35871	-0.9771	10	0.72032	D	0.01	-25.6833	10.0273	0.42079	0.9192:0.0:0.0808:0.0	.	106;127	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	A	127;106	ENSP00000269346:D127A;ENSP00000433089:D106A	ENSP00000269346:D127A	D	+	2	0	TTYH2	69738699	0.987000	0.35691	0.122000	0.21767	0.229000	0.25112	5.442000	0.66575	0.880000	0.35969	0.533000	0.62120	GAT		0.577	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			22	80	0	0	0	1	0	22	80				
PLEKHB1	58473	broad.mit.edu	37	11	73366910	73366910	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:73366910G>A	ENST00000354190.5	+	6	884	c.453G>A	c.(451-453)gtG>gtA	p.V151V	PLEKHB1_ENST00000227214.6_Intron|PLEKHB1_ENST00000535129.1_Intron|PLEKHB1_ENST00000543085.1_Intron|PLEKHB1_ENST00000398494.4_Silent_p.V132V|PLEKHB1_ENST00000398492.4_Intron	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	151					multicellular organismal development (GO:0007275)|phototransduction (GO:0007602)|regulation of cell differentiation (GO:0045595)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						TCAGGTGTGTGACCCGCTCGT	0.642																																						ENST00000354190.5																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						c.(451-453)gtG>gtA		pleckstrin homology domain containing, family B (evectins) member 1							51.0	58.0	56.0					11																	73366910		1946	4121	6067	SO:0001819	synonymous_variant	58473				multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity	g.chr11:73366910G>A	AF081583	CCDS44672.1, CCDS44673.1, CCDS44674.1, CCDS44675.1	11q13.5-q14.1	2013-01-10	2002-11-04	2002-11-08	ENSG00000021300	ENSG00000021300		"""Pleckstrin homology (PH) domain containing"""	19079	protein-coding gene	gene with protein product		607651	"""PH domain containing, retinal 1"""	PHRET1		10585447	Standard	NM_021200		Approved	PHR1, KPL1	uc001ouc.3	Q9UF11	OTTHUMG00000168030	ENST00000354190.5:c.453G>A	11.37:g.73366910G>A						PLEKHB1_ENST00000398492.4_Intron|PLEKHB1_ENST00000535129.1_Intron|PLEKHB1_ENST00000227214.6_Intron|PLEKHB1_ENST00000543085.1_Intron|PLEKHB1_ENST00000398494.4_Silent_p.V132V	p.V151V	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN			6	884	+			151					A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Silent	SNP	ENST00000354190.5	37	c.453G>A	CCDS44672.1																																																																																				0.642	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1			21	68	0	0	0	1	0	21	68				
KLHL21	9903	broad.mit.edu	37	1	6659379	6659379	+	Silent	SNP	G	G	A	rs550042971		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:6659379G>A	ENST00000377658.4	-	2	1206	c.1155C>T	c.(1153-1155)taC>taT	p.Y385Y	KLHL21_ENST00000463043.1_Silent_p.Y18Y|KLHL21_ENST00000377663.3_Silent_p.Y385Y|KLHL21_ENST00000467612.1_Silent_p.Y18Y	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	385					chromosome passenger complex localization to spindle midzone (GO:0035853)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|regulation of cytokinesis (GO:0032465)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|polar microtubule (GO:0005827)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		CGGCCACCACGTACAGCAGTC	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18103	0.0		0.0	False		,,,				2504	0.0					ENST00000377663.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8						c.(1153-1155)taC>taT		kelch-like family member 21							109.0	100.0	103.0					1																	6659379		2203	4300	6503	SO:0001819	synonymous_variant	9903				anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule		g.chr1:6659379G>A	AK090472	CCDS30575.1	1p36	2013-01-30	2013-01-30		ENSG00000162413	ENSG00000162413		"""Kelch-like"", ""BTB/POZ domain containing"""	29041	protein-coding gene	gene with protein product			"""kelch-like 21 (Drosophila)"""				Standard	XM_005263542		Approved	KIAA0469	uc001aoa.3	Q9UJP4	OTTHUMG00000001437	ENST00000377658.4:c.1155C>T	1.37:g.6659379G>A						KLHL21_ENST00000467612.1_Silent_p.Y18Y|KLHL21_ENST00000463043.1_Silent_p.Y18Y|KLHL21_ENST00000377658.4_Silent_p.Y385Y	p.Y385Y			Q9UJP4	KLH21_HUMAN		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)	2	1338	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	385					B3KQP2|O75057|Q5SY26|Q5SY28|Q8N4I6|Q8NF10	Silent	SNP	ENST00000377658.4	37	c.1155C>T	CCDS30575.1																																																																																				0.632	KLHL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004188.1	NM_014851		16	66	0	0	0	1	0	16	66				
CXXC1	30827	broad.mit.edu	37	18	47810748	47810748	+	Splice_Site	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:47810748T>C	ENST00000285106.6	-	9	1919	c.1205A>G	c.(1204-1206)aAc>aGc	p.N402S	MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|CXXC1_ENST00000412036.2_Splice_Site_p.N406S|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000398493.1_5'Flank|CXXC1_ENST00000589940.1_Splice_Site_p.N402S|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000339998.6_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000349085.2_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	402					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						AATGACTCACTTGGCTGCCAG	0.592																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.e9+1		CXXC finger protein 1							68.0	70.0	69.0					18																	47810748		2203	4299	6502	SO:0001630	splice_region_variant	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47810748T>C	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1205+1A>G	18.37:g.47810748T>C						CXXC1_ENST00000412036.2_Splice_Site_p.N406_splice|CXXC1_ENST00000589940.1_Splice_Site_p.N402_splice	p.N402_splice	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			9	1919	-			402					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Splice_Site	SNP	ENST00000285106.6	37	c.1205_splice	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	T	12.09	1.833958	0.32421	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.23147	1.92;1.92	4.14	4.14	0.48551	CpG binding protein, C-terminal (1);	0.000000	0.85682	U	0.000000	T	0.20088	0.0483	L	0.40543	1.245	0.80722	D	1	B;B;B;B	0.17038	0.01;0.008;0.01;0.02	B;B;B;B	0.15870	0.012;0.002;0.003;0.014	T	0.04635	-1.0937	9	.	.	.	-21.0574	11.396	0.49843	0.0:0.0:0.0:1.0	.	402;406;402;269	B2RC03;Q9P0U4-2;Q9P0U4;Q59EC8	.;.;CXXC1_HUMAN;.	S	402;406	ENSP00000285106:N402S;ENSP00000390475:N406S	.	N	-	2	0	CXXC1	46064746	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.614000	0.67695	1.639000	0.50556	0.247000	0.18012	AAC		0.592	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593	Missense_Mutation	29	98	0	0	0	1	0	29	98				
SBK2	646643	broad.mit.edu	37	19	56042676	56042676	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:56042676C>T	ENST00000413299.1	-	3	327	c.290G>A	c.(289-291)cGc>cAc	p.R97H	SBK2_ENST00000344158.3_Missense_Mutation_p.R97H	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	97	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GAGGGACGTGCGGGGTTTCGG	0.672																																						ENST00000413299.1																			0				endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(289-291)cGc>cAc		SH3 domain binding kinase family, member 2							34.0	41.0	39.0					19																	56042676		2122	4229	6351	SO:0001583	missense	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56042676C>T		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.290G>A	19.37:g.56042676C>T	ENSP00000389015:p.Arg97His					SBK2_ENST00000344158.3_Missense_Mutation_p.R97H	p.R97H	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN			3	327	-			97			Protein kinase.			Missense_Mutation	SNP	ENST00000413299.1	37	c.290G>A	CCDS42631.1	.	.	.	.	.	.	.	.	.	.	C	5.850	0.340943	0.11069	.	.	ENSG00000187550	ENST00000413299;ENST00000344158	T;T	0.65916	-0.18;-0.18	4.89	1.53	0.23141	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.483072	0.23338	N	0.049274	T	0.36853	0.0982	N	0.16478	0.41	0.09310	N	1	B	0.24823	0.112	B	0.21917	0.037	T	0.13818	-1.0495	10	0.44086	T	0.13	-38.1625	1.6997	0.02870	0.1706:0.1881:0.4661:0.1752	.	97	P0C263	SBK2_HUMAN	H	97	ENSP00000389015:R97H;ENSP00000345044:R97H	ENSP00000345044:R97H	R	-	2	0	SBK2	60734488	0.000000	0.05858	0.529000	0.27951	0.002000	0.02628	0.225000	0.17757	0.585000	0.29608	-1.208000	0.01637	CGC		0.672	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		8	27	0	0	0	1	0	8	27				
SI	6476	broad.mit.edu	37	3	164697201	164697201	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:164697201C>T	ENST00000264382.3	-	48	5495	c.5433G>A	c.(5431-5433)ctG>ctA	p.L1811L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1811	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGTGTGTGGTCAGATCAATAC	0.284										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(5431-5433)ctG>ctA		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						143.0	140.0	141.0					3																	164697201		2202	4300	6502	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164697201C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5433G>A	3.37:g.164697201C>T		HNSCC(35;0.089)					p.L1811L	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			48	5495	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1811			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.5433G>A	CCDS3196.1																																																																																				0.284	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		8	71	0	0	0	1	0	8	71				
DYNC1H1	1778	broad.mit.edu	37	14	102445732	102445732	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:102445732A>G	ENST00000360184.4	+	3	585	c.421A>G	c.(421-423)Agt>Ggt	p.S141G		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	141	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCTTACACTCAGTGAAGACTC	0.423																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(421-423)Agt>Ggt		dynein, cytoplasmic 1, heavy chain 1							116.0	115.0	115.0					14																	102445732		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102445732A>G	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.421A>G	14.37:g.102445732A>G	ENSP00000348965:p.Ser141Gly						p.S141G	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			3	585	+			141			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.421A>G	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.377589	0.42105	.	.	ENSG00000197102	ENST00000360184	T	0.28666	1.6	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	L	0.49640	1.575	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.07046	-1.0793	10	0.18710	T	0.47	.	15.6539	0.77118	1.0:0.0:0.0:0.0	.	141	Q14204	DYHC1_HUMAN	G	141	ENSP00000348965:S141G	ENSP00000348965:S141G	S	+	1	0	DYNC1H1	101515485	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	8.864000	0.92294	2.169000	0.68431	0.402000	0.26972	AGT		0.423	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		7	141	0	0	0	1	0	7	141				
METTL22	79091	broad.mit.edu	37	16	8722955	8722955	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:8722955A>G	ENST00000381920.3	+	3	760	c.502A>G	c.(502-504)Atc>Gtc	p.I168V	METTL22_ENST00000561758.1_Missense_Mutation_p.I112V	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	168						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						CCCGCACGATATCATCAGAAT	0.542																																						ENST00000381920.3																			0				large_intestine(5)|lung(4)	9						c.(502-504)Atc>Gtc		methyltransferase like 22							189.0	198.0	195.0					16																	8722955		2116	4229	6345	SO:0001583	missense	79091						methyltransferase activity	g.chr16:8722955A>G	AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"""chromosome 16 open reading frame 68"""	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.502A>G	16.37:g.8722955A>G	ENSP00000371345:p.Ile168Val					METTL22_ENST00000561758.1_Missense_Mutation_p.I112V	p.I168V	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN			3	760	+			168					B2RD29|D3DUF2|Q6XYB4|Q9HA03	Missense_Mutation	SNP	ENST00000381920.3	37	c.502A>G	CCDS10533.2	.	.	.	.	.	.	.	.	.	.	A	7.975	0.749990	0.15778	.	.	ENSG00000067365	ENST00000381920;ENST00000163678	T;T	0.45276	2.37;0.9	5.43	-8.4	0.00965	.	1.449510	0.04191	N	0.328351	T	0.12050	0.0293	N	0.01250	-0.93	0.23809	N	0.996781	B	0.09022	0.002	B	0.12156	0.007	T	0.20240	-1.0281	10	0.10902	T	0.67	-0.008	6.4995	0.22160	0.536:0.0:0.2855:0.1785	.	168	Q9BUU2	MET22_HUMAN	V	168	ENSP00000371345:I168V;ENSP00000163678:I168V	ENSP00000163678:I168V	I	+	1	0	METTL22	8630456	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.699000	0.05087	-1.058000	0.03197	-0.379000	0.06801	ATC		0.542	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109		119	363	0	0	0	1	0	119	363				
TCEA3	6920	broad.mit.edu	37	1	23751109	23751109	+	Silent	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:23751109C>T	ENST00000450454.2	-	1	124	c.18G>A	c.(16-18)gaG>gaA	p.E6E	TCEA3_ENST00000374601.3_Silent_p.E6E	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	6	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TCCTCAGCAGCTCCTCTTCCT	0.721																																						ENST00000450454.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7						c.(16-18)gaG>gaA		transcription elongation factor A (SII), 3							75.0	79.0	78.0					1																	23751109		2017	4207	6224	SO:0001819	synonymous_variant	6920				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	g.chr1:23751109C>T	AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.18G>A	1.37:g.23751109C>T						TCEA3_ENST00000374601.3_Silent_p.E6E	p.E6E	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)	1	124	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)	6			TFIIS N-terminal.		A8K2K7|Q5DR83	Silent	SNP	ENST00000450454.2	37	c.18G>A	CCDS44086.1																																																																																				0.721	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008911.2	NM_003196		22	91	0	0	0	1	0	22	91				
KRT6A	3853	broad.mit.edu	37	12	52881710	52881710	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52881710A>G	ENST00000330722.6	-	9	1557	c.1489T>C	c.(1489-1491)Tat>Cat	p.Y497H		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	497	Tail.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCACCGCCATAGCCACTGGAG	0.602																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(1489-1491)Tat>Cat		keratin 6A							60.0	63.0	62.0					12																	52881710		2203	4300	6503	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52881710A>G	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1489T>C	12.37:g.52881710A>G	ENSP00000369317:p.Tyr497His						p.Y497H	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1557	-			497			Tail.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.1489T>C	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	a	6.508	0.461970	0.12342	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.86097	-2.07	5.06	3.91	0.45181	.	0.000000	0.49916	D	0.000127	D	0.82930	0.5144	M	0.83118	2.625	0.32928	D	0.516695	B	0.09022	0.002	B	0.08055	0.003	T	0.80692	-0.1269	10	0.29301	T	0.29	.	7.2419	0.26102	0.7756:0.1472:0.0771:0.0	.	497	P02538	K2C6A_HUMAN	H	497;453	ENSP00000369317:Y497H	ENSP00000369317:Y497H	Y	-	1	0	KRT6A	51167977	0.001000	0.12720	0.974000	0.42286	0.380000	0.30137	0.142000	0.16096	2.038000	0.60285	0.477000	0.44152	TAT		0.602	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		17	51	0	0	0	1	0	17	51				
VPS52	6293	broad.mit.edu	37	6	33235683	33235683	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:33235683A>G	ENST00000445902.2	-	9	1110	c.892T>C	c.(892-894)Tct>Cct	p.S298P	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.S173P	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	298					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CGGTAGTAAGACAGGTAAATC	0.532																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(892-894)Tct>Cct		vacuolar protein sorting 52 homolog (S. cerevisiae)							160.0	155.0	157.0					6																	33235683		1511	2709	4220	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33235683A>G	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.892T>C	6.37:g.33235683A>G	ENSP00000409952:p.Ser298Pro					VPS52_ENST00000436044.2_Missense_Mutation_p.S173P|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	p.S298P	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			9	1110	-			298					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.892T>C	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	A	22.1	4.240292	0.79912	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	4.87	4.87	0.63330	.	0.108684	0.64402	D	0.000007	T	0.75265	0.3826	M	0.85041	2.73	0.58432	D	0.999993	D;D;D	0.89917	1.0;0.985;1.0	D;D;D	0.79784	0.993;0.976;0.993	T	0.78846	-0.2043	9	0.54805	T	0.06	-13.8052	12.7642	0.57383	1.0:0.0:0.0:0.0	.	276;173;298	B4DS44;B3KMF7;Q8N1B4	.;.;VPS52_HUMAN	P	298;276;173	.	ENSP00000414785:S276P	S	-	1	0	VPS52	33343661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.603000	0.61105	2.198000	0.70561	0.472000	0.43445	TCT		0.532	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		42	136	0	0	0	1	0	42	136				
C10orf12	26148	broad.mit.edu	37	10	98742051	98742051	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:98742051A>G	ENST00000286067.2	+	1	1011	c.904A>G	c.(904-906)Aca>Gca	p.T302A		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	302										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGAGGAAACGACAGCCTCCAG	0.572																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(904-906)Aca>Gca		chromosome 10 open reading frame 12							63.0	65.0	64.0					10																	98742051		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98742051A>G	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.904A>G	10.37:g.98742051A>G	ENSP00000286067:p.Thr302Ala						p.T302A	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	1011	+		Colorectal(252;0.172)	302					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.904A>G	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	A	1.624	-0.520717	0.04171	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.07021	3.23	6.05	-3.25	0.05079	.	1.273200	0.05726	N	0.598753	T	0.03695	0.0105	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.003;0.004	T	0.43782	-0.9370	10	0.18710	T	0.47	0.8916	0.7287	0.00953	0.1723:0.2384:0.274:0.3154	.	136;302	A0PJI9;Q8N655	.;CJ012_HUMAN	A	302;136	ENSP00000286067:T302A	ENSP00000286067:T302A	T	+	1	0	C10orf12	98732041	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.295000	0.08298	-0.432000	0.07297	0.533000	0.62120	ACA		0.572	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		7	94	0	0	0	1	0	7	94				
SIRT7	51547	broad.mit.edu	37	17	79875959	79875959	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:79875959C>T	ENST00000328666.6	-	1	111	c.49G>A	c.(49-51)Gtc>Atc	p.V17I		NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	17	Arg-rich.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AACCTCCGGACCCGCTCCGCC	0.776																																						ENST00000328666.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(49-51)Gtc>Atc		sirtuin 7																																				SO:0001583	missense	51547				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	g.chr17:79875959C>T	AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7"", ""sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"""			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.49G>A	17.37:g.79875959C>T	ENSP00000329466:p.Val17Ile						p.V17I	NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		1	111	-	all_neural(118;0.0878)|Ovarian(332;0.12)		17			Arg-rich.		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	ENST00000328666.6	37	c.49G>A	CCDS11792.1	.	.	.	.	.	.	.	.	.	.	C	9.915	1.210633	0.22289	.	.	ENSG00000187531	ENST00000328666	T	0.29917	1.55	3.51	2.51	0.30379	.	0.720818	0.12084	N	0.501079	T	0.19248	0.0462	N	0.14661	0.345	0.80722	D	1	B	0.19817	0.039	B	0.19391	0.025	T	0.04216	-1.0968	10	0.37606	T	0.19	-20.786	11.0248	0.47739	0.1877:0.8123:0.0:0.0	.	17	Q9NRC8	SIRT7_HUMAN	I	17	ENSP00000329466:V17I	ENSP00000329466:V17I	V	-	1	0	SIRT7	77469251	0.989000	0.36119	0.998000	0.56505	0.059000	0.15707	2.190000	0.42630	0.649000	0.30751	-0.719000	0.03609	GTC		0.776	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		14	33	0	0	0	1	0	14	33				
ZNF562	54811	broad.mit.edu	37	19	9767279	9767279	+	Missense_Mutation	SNP	G	G	A	rs151017672		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:9767279G>A	ENST00000448622.1	-	5	454	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	ZNF562_ENST00000453372.2_Missense_Mutation_p.R98W|ZNF562_ENST00000453792.2_Missense_Mutation_p.R29W|ZNF562_ENST00000537617.1_De_novo_Start_OutOfFrame|ZNF562_ENST00000293648.4_Missense_Mutation_p.R26W|ZNF562_ENST00000541032.1_Missense_Mutation_p.R61W|ZNF562_ENST00000590155.1_Missense_Mutation_p.R98W|ZNF562_ENST00000587392.1_Intron	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	98	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						AGTGATGACCGTTTGGTTCTA	0.323													g|||	1	0.000199681	0.0	0.0	5008	,	,		16614	0.0		0.001	False		,,,				2504	0.0					ENST00000537617.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17								zinc finger protein 562		G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	143.0	141.0	141.0		292,292,76	-3.8	0.0	19	dbSNP_134	141	14,8586	10.5+/-38.8	0,14,4286	no	missense,missense,missense	ZNF562	NM_001130031.1,NM_001130032.1,NM_017656.3	101,101,101	0,15,6488	AA,AG,GG		0.1628,0.0227,0.1153	benign,benign,benign	98/427,98/427,26/355	9767279	15,12991	2203	4300	6503	SO:0001583	missense	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9767279G>A	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.292C>T	19.37:g.9767279G>A	ENSP00000411784:p.Arg98Trp					ZNF562_ENST00000590155.1_Missense_Mutation_p.R98W|ZNF562_ENST00000453792.2_Missense_Mutation_p.R29W|ZNF562_ENST00000293648.4_Missense_Mutation_p.R26W|ZNF562_ENST00000587392.1_Intron|ZNF562_ENST00000453372.2_Missense_Mutation_p.R98W|ZNF562_ENST00000448622.1_Missense_Mutation_p.R98W|ZNF562_ENST00000541032.1_Missense_Mutation_p.R61W				Q6V9R5	ZN562_HUMAN			0	360	-								Q32MN2|Q9NXS5	Translation_Start_Site	SNP	ENST00000448622.1	37		CCDS45956.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	3.531	-0.095680	0.07010	2.27E-4	0.001628	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792	T;T;T;T;T	0.08896	3.06;3.06;3.22;3.04;3.28	1.92	-3.84	0.04256	Krueppel-associated box (1);	.	.	.	.	T	0.06371	0.0164	L	0.38175	1.15	0.09310	N	0.999998	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.30208	-0.9986	9	0.72032	D	0.01	.	6.2969	0.21091	0.6298:0.207:0.1632:0.0	.	98;61;98;26	B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;ZN562_HUMAN;.	W	98;98;26;61;29	ENSP00000410734:R98W;ENSP00000411784:R98W;ENSP00000293648:R26W;ENSP00000442614:R61W;ENSP00000440451:R29W	ENSP00000293648:R26W	R	-	1	2	ZNF562	9628279	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.206000	0.01231	-2.040000	0.00916	-1.342000	0.01247	CGG		0.323	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656		32	110	0	0	0	1	0	32	110				
NAPSA	9476	broad.mit.edu	37	19	50861878	50861878	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:50861878C>G	ENST00000253719.2	-	9	1403	c.1195G>C	c.(1195-1197)Gcg>Ccg	p.A399P	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	399					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CGAGCGCGCGCCAGGCCCACC	0.697																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(1195-1197)Gcg>Ccg		napsin A aspartic peptidase							14.0	16.0	16.0					19																	50861878		2197	4291	6488	SO:0001583	missense	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50861878C>G	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.1195G>C	19.37:g.50861878C>G	ENSP00000253719:p.Ala399Pro					NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.A399P	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	9	1403	-		all_neural(266;0.057)	399					Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	c.1195G>C	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241565	0.79912	.	.	ENSG00000131400	ENST00000253719	T	0.73789	-0.78	2.58	2.58	0.30949	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.90431	0.7004	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91088	0.4904	10	0.87932	D	0	.	8.765	0.34698	0.0:1.0:0.0:0.0	.	399	O96009	NAPSA_HUMAN	P	399	ENSP00000253719:A399P	ENSP00000253719:A399P	A	-	1	0	NAPSA	55553690	1.000000	0.71417	0.081000	0.20488	0.007000	0.05969	5.855000	0.69510	1.743000	0.51761	0.313000	0.20887	GCG		0.697	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		9	20	0	0	0	1	0	9	20				
ZDHHC5	25921	broad.mit.edu	37	11	57464277	57464277	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:57464277T>C	ENST00000287169.3	+	10	2416	c.1054T>C	c.(1054-1056)Tac>Cac	p.Y352H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.Y299H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	352					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						ACCTACCATGTACAAGTATCG	0.502																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1054-1056)Tac>Cac		zinc finger, DHHC-type containing 5							99.0	88.0	92.0					11																	57464277		2201	4296	6497	SO:0001583	missense	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57464277T>C	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1054T>C	11.37:g.57464277T>C	ENSP00000287169:p.Tyr352His					ZDHHC5_ENST00000527985.1_Missense_Mutation_p.Y299H	p.Y352H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			10	2416	+			352					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	c.1054T>C	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	t	25.9	4.681343	0.88542	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000529447	T;T;D	0.86769	-0.08;0.91;-2.17	5.47	4.32	0.51571	.	0.337615	0.32703	N	0.005752	D	0.87613	0.6221	M	0.62723	1.935	0.49213	D	0.999768	P	0.46512	0.879	P	0.48089	0.566	D	0.86340	0.1704	10	0.44086	T	0.13	-2.6189	12.2919	0.54823	0.0:0.0:0.1419:0.8581	.	352	Q9C0B5	ZDHC5_HUMAN	H	299;352;186	ENSP00000432202:Y299H;ENSP00000287169:Y352H;ENSP00000435722:Y186H	ENSP00000287169:Y352H	Y	+	1	0	ZDHHC5	57220853	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.090000	0.76916	1.061000	0.40601	0.524000	0.50904	TAC		0.502	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		13	75	0	0	0	1	0	13	75				
RYR3	6263	broad.mit.edu	37	15	33878260	33878260	+	Silent	SNP	G	G	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:33878260G>A	ENST00000389232.4	+	16	1801	c.1731G>A	c.(1729-1731)gcG>gcA	p.A577A	RYR3_ENST00000415757.3_Silent_p.A577A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	577					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCTGATAGCGGAGGGCCACA	0.448																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(1729-1731)gcG>gcA		ryanodine receptor 3							142.0	130.0	134.0					15																	33878260		1943	4144	6087	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33878260G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1731G>A	15.37:g.33878260G>A						RYR3_ENST00000415757.3_Silent_p.A577A	p.A577A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	16	1801	+		all_lung(180;7.18e-09)	577					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.1731G>A	CCDS45210.1																																																																																				0.448	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			25	61	0	0	0	1	0	25	61				
CPSF3L	54973	broad.mit.edu	37	1	1247409	1247411	+	In_Frame_Del	DEL	AGG	AGG	-	rs372283691		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:1247409_1247411delAGG	ENST00000435064.1	-	16	1806_1808	c.1724_1726delCCT	c.(1723-1728)tcctgg>tgg	p.S575del	CPSF3L_ENST00000421495.2_In_Frame_Del_p.S317del|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000411962.1_In_Frame_Del_p.S477del|CPSF3L_ENST00000540437.1_In_Frame_Del_p.S581del|CPSF3L_ENST00000545578.1_In_Frame_Del_p.S546del|CPSF3L_ENST00000419704.1_In_Frame_Del_p.S474del|CPSF3L_ENST00000450926.2_In_Frame_Del_p.S553del	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	575					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	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)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TGGTAGGTCCAGGAGACCAGCAG	0.631																																						ENST00000540437.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(1741-1746)tgg>t		cleavage and polyadenylation specific factor 3-like																																				SO:0001651	inframe_deletion	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1247409_1247411delAGG	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.1724_1726delCCT	1.37:g.1247409_1247411delAGG	ENSP00000413493:p.Ser575del					CPSF3L_ENST00000419704.1_In_Frame_Del_p.SW474del|CPSF3L_ENST00000435064.1_In_Frame_Del_p.SW575del|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000421495.2_In_Frame_Del_p.SW317del|CPSF3L_ENST00000545578.1_In_Frame_Del_p.SW546del|CPSF3L_ENST00000450926.2_In_Frame_Del_p.SW553del|CPSF3L_ENST00000411962.1_In_Frame_Del_p.SW477del	p.SW581del	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	18	2197_2199	-	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)	575					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	In_Frame_Del	DEL	ENST00000435064.1	37	c.1742_1744delCCT	CCDS21.1																																																																																				0.631	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		3	5						3	5	---	---	---	---
MXRA8	54587	broad.mit.edu	37	1	1290110	1290110	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:1290110delG	ENST00000309212.6	-	5	931	c.901delC	c.(901-903)cggfs	p.R301fs	MXRA8_ENST00000342753.4_Frame_Shift_Del_p.R200fs|MXRA8_ENST00000477278.2_Frame_Shift_Del_p.R292fs|MXRA8_ENST00000445648.2_Frame_Shift_Del_p.R301fs	NM_001282582.1|NM_032348.2	NP_001269511.1|NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	301					establishment of glial blood-brain barrier (GO:0060857)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGAGAGCCCCGGGGGGGCGGC	0.741																																						ENST00000309212.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7						c.(901-903)ggfs		matrix-remodelling associated 8				34,3896		8,18,1939	7.0	11.0	10.0			1.7	0.0	1		9	77,7797		20,37,3880	no	frameshift	MXRA8	NM_032348.2		28,55,5819	A1A1,A1R,RR		0.9779,0.8651,0.9404			1290110	111,11693	2112	4201	6313	SO:0001589	frameshift_variant	54587					integral to membrane		g.chr1:1290110delG	BC006213	CCDS24.1, CCDS59950.1, CCDS59951.1, CCDS59952.1	1p36.33	2013-01-11			ENSG00000162576	ENSG00000162576		"""Immunoglobulin superfamily / V-set domain containing"""	7542	protein-coding gene	gene with protein product	"""limitrin"""					14603461	Standard	XM_005244758		Approved	DKFZp586E2023	uc001aew.3	Q9BRK3	OTTHUMG00000002973	ENST00000309212.6:c.901delC	1.37:g.1290110delG	ENSP00000307887:p.Arg301fs					MXRA8_ENST00000445648.2_Frame_Shift_Del_p.R301fs|MXRA8_ENST00000342753.4_Frame_Shift_Del_p.R200fs	p.R301fs	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	5	931	-	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	301					B3KTR6|B4DE34|Q5TA39|Q96KC3	Frame_Shift_Del	DEL	ENST00000309212.6	37	c.901delC	CCDS24.1																																																																																				0.741	MXRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008282.2	NM_032348		8	19						8	19	---	---	---	---
RPL22	6146	broad.mit.edu	37	1	6257785	6257785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:6257785delT	ENST00000234875.4	-	2	82	c.44delA	c.(43-45)aagfs	p.K16fs	RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	16					alpha-beta T cell differentiation (GO:0046632)|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)|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 large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AACTTGCTTCTTTTTTTTGCC	0.398			T	RUNX1	"""AML, CML"""																																	ENST00000234875.4				Dom	yes		1	1p36.31	6146	T	ribosomal protein L22 (EAP)			L	RUNX1		"""AML, CML"""		1	Deletion - Frameshift(1)	p.K15fs*5(1)	large_intestine(1)	kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(43-45)agfs		ribosomal protein L22							62.0	55.0	57.0					1																	6257785		2203	4300	6503	SO:0001589	frameshift_variant	6146				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	g.chr1:6257785delT	BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.44delA	1.37:g.6257785delT	ENSP00000346088:p.Lys16fs					RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR	p.K16fs	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	2	82	-	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	16					B2R495|Q6IBD1	Frame_Shift_Del	DEL	ENST00000234875.4	37	c.44delA	CCDS58.1																																																																																				0.398	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1	NM_000983		7	38						7	38	---	---	---	---
TNFRSF9	3604	broad.mit.edu	37	1	7998254	7998254	+	Splice_Site	DEL	T	T	-	rs9657965	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:7998254delT	ENST00000377507.3	-	4	511	c.345delA	c.(343-345)aaa>aa	p.K115fs		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	115			K -> N (in dbSNP:rs9657965). {ECO:0000269|Ref.5}.		apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		CAAACGTACCTTTTTTTGTCA	0.413																																						ENST00000377507.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.e4+1		tumor necrosis factor receptor superfamily, member 9							135.0	124.0	128.0					1																	7998254		2203	4300	6503	SO:0001630	splice_region_variant	3604				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	g.chr1:7998254delT	L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.346+1A>-	1.37:g.7998254delT							p.K115_splice	NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)	4	511	-	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	115		K -> N (in dbSNP:rs9657965).				Splice_Site	DEL	ENST00000377507.3	37	c.346_splice	CCDS92.1																																																																																				0.413	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1		Frame_Shift_Del	31	125						31	125	---	---	---	---
SLC25A33	84275	broad.mit.edu	37	1	9627374	9627374	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:9627374delT	ENST00000302692.6	+	3	479	c.269delT	c.(268-270)cttfs	p.L90fs		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	90					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CCAAAGTCACTTTTTAGAGGC	0.413																																						ENST00000302692.6																			0				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9						c.(268-270)ctfs		solute carrier family 25 (pyrimidine nucleotide carrier), member 33							158.0	170.0	166.0					1																	9627374		2203	4300	6503	SO:0001589	frameshift_variant	84275				transport	integral to membrane|mitochondrial inner membrane		g.chr1:9627374delT	AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"""Solute carriers"""	29681	protein-coding gene	gene with protein product		610816	"""solute carrier family 25, member 33"""			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.269delT	1.37:g.9627374delT	ENSP00000306328:p.Leu90fs						p.L90fs	NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)	3	479	+	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	90						Frame_Shift_Del	DEL	ENST00000302692.6	37	c.269delT	CCDS103.1																																																																																				0.413	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2	NM_032315		69	204						69	204	---	---	---	---
PIK3CD	5293	broad.mit.edu	37	1	9777114	9777114	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:9777114delC	ENST00000377346.4	+	7	1073	c.878delC	c.(877-879)gccfs	p.A293fs	PIK3CD_ENST00000543390.1_5'Flank|PIK3CD_ENST00000361110.2_Intron|PIK3CD_ENST00000536656.1_Intron	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	293					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	AGCAACCCTGCCCCCCAGGTC	0.617																																						ENST00000377346.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(877-879)gcfs		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							130.0	117.0	121.0					1																	9777114		2203	4300	6503	SO:0001589	frameshift_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9777114delC		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.878delC	1.37:g.9777114delC	ENSP00000366563:p.Ala293fs					PIK3CD_ENST00000536656.1_Intron|PIK3CD_ENST00000361110.2_Intron	p.A293fs	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	7	1073	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	293					A6NCG0|G1FFP1|O15445|Q5SR49	Frame_Shift_Del	DEL	ENST00000377346.4	37	c.878delC	CCDS104.1																																																																																				0.617	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		29	145						29	145	---	---	---	---
EPHA2	1969	broad.mit.edu	37	1	16462199	16462199	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:16462199delG	ENST00000358432.5	-	6	1533	c.1379delC	c.(1378-1380)ccgfs	p.P461fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	461	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P460fs*33(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CTGCTGCGGCGGGGGGATGCT	0.667																																						ENST00000358432.5																			1	Deletion - Frameshift(1)	p.P460fs*33(1)	large_intestine(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1378-1380)cgfs		EPH receptor A2	Dasatinib(DB01254)						51.0	51.0	51.0					1																	16462199		2203	4300	6503	SO:0001589	frameshift_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16462199delG	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1379delC	1.37:g.16462199delG	ENSP00000351209:p.Pro461fs						p.P461fs	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	6	1533	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	461			Fibronectin type-III 2.		B5A968|Q8N3Z2	Frame_Shift_Del	DEL	ENST00000358432.5	37	c.1379delC	CCDS169.1																																																																																				0.667	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		32	82						32	82	---	---	---	---
MST1L	11223	broad.mit.edu	37	1	17084500	17084501	+	RNA	INS	-	-	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:17084500_17084501insC	ENST00000455405.2	-	0	388_389							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GGCTACTGGGACCCGCTGTAGG	0.599																																						ENST00000455405.2																			0																																																			11223							g.chr1:17084500_17084501insC	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084503_17084503dupC														0	388_389	-								B7WPB1|Q13209	RNA	INS	ENST00000455405.2	37																																																																																						0.599	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		7	178						7	178	---	---	---	---
ARHGEF10L	55160	broad.mit.edu	37	1	17966735	17966735	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:17966735delC	ENST00000361221.3	+	21	2369	c.2210delC	c.(2209-2211)accfs	p.T737fs	ARHGEF10L_ENST00000167825.4_Frame_Shift_Del_p.T440fs|ARHGEF10L_ENST00000375408.3_Frame_Shift_Del_p.T510fs|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Frame_Shift_Del_p.T698fs|ARHGEF10L_ENST00000434513.1_Frame_Shift_Del_p.T732fs|ARHGEF10L_ENST00000375415.1_Frame_Shift_Del_p.T698fs	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	737						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GTTTTCATCACCCCCAACCCC	0.582																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2209-2211)acfs		Rho guanine nucleotide exchange factor (GEF) 10-like							80.0	66.0	70.0					1																	17966735		2202	4300	6502	SO:0001589	frameshift_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17966735delC	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2210delC	1.37:g.17966735delC	ENSP00000355060:p.Thr737fs					ARHGEF10L_ENST00000452522.1_Frame_Shift_Del_p.T698fs|ARHGEF10L_ENST00000167825.4_Frame_Shift_Del_p.T440fs|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Frame_Shift_Del_p.T732fs|ARHGEF10L_ENST00000375415.1_Frame_Shift_Del_p.T698fs|ARHGEF10L_ENST00000375408.3_Frame_Shift_Del_p.T510fs	p.T737fs	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	21	2369	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	737					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Frame_Shift_Del	DEL	ENST00000361221.3	37	c.2210delC	CCDS182.1																																																																																				0.582	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		8	21						8	21	---	---	---	---
IFNLR1	163702	broad.mit.edu	37	1	24484361	24484362	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:24484361_24484362delGT	ENST00000327535.1	-	7	833_834	c.821_822delAC	c.(820-822)cacfs	p.H274fs	IFNLR1_ENST00000327575.2_Frame_Shift_Del_p.P231fs|IFNLR1_ENST00000374421.3_Intron	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	274					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											TTGCCACAGGGTGTGTGTGTCC	0.495																																						ENST00000327535.1																			0											c.(820-822)cfs		interferon, lambda receptor 1																																				SO:0001589	frameshift_variant	163702							g.chr1:24484361_24484362delGT	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.821_822delAC	1.37:g.24484369_24484370delGT	ENSP00000327824:p.His274fs					IFNLR1_ENST00000374421.3_Intron|IFNLR1_ENST00000327575.2_Frame_Shift_Del_p.TP230fs	p.H274fs	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1					7	833_834	-								Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Frame_Shift_Del	DEL	ENST00000327535.1	37	c.821_822delAC	CCDS248.1																																																																																				0.495	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		33	133						33	133	---	---	---	---
RHD	6007	broad.mit.edu	37	1	25599124	25599125	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:25599124_25599125insT	ENST00000328664.4	+	1	241_242	c.86_87insT	c.(85-90)tattttfs	p.YF29fs	RHD_ENST00000568195.1_Frame_Shift_Ins_p.YF29fs|RHD_ENST00000342055.5_Frame_Shift_Ins_p.YF29fs|RHD_ENST00000454452.2_Frame_Shift_Ins_p.YF29fs|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000423810.2_Frame_Shift_Ins_p.YF29fs|RHD_ENST00000357542.4_Frame_Shift_Ins_p.YF29fs|RHD_ENST00000417538.2_Frame_Shift_Ins_p.YF29fs	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	29						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTCCTCTTCTATTTTTTTACCC	0.52																																						ENST00000328664.4																			0				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14						c.(85-87)tttfs		Rh blood group, D antigen			,	0,4262		0,0,2131					,	-5.6	0.1			67	1,8243		0,1,4121	no	frameshift,frameshift	RHD	NM_016124.3,NM_001127691.1	,	0,1,6252	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12505				SO:0001589	frameshift_variant	6007					integral to plasma membrane		g.chr1:25599124_25599125insT	AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.93dupT	1.37:g.25599131_25599131dupT	ENSP00000331871:p.Tyr29fs					RHD_ENST00000454452.2_Frame_Shift_Ins_p.F29fs|RHD_ENST00000423810.2_Frame_Shift_Ins_p.F29fs|RHD_ENST00000417538.2_Frame_Shift_Ins_p.F29fs|RHD_ENST00000342055.5_Frame_Shift_Ins_p.F29fs|RHD_ENST00000357542.4_Frame_Shift_Ins_p.F29fs|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000568195.1_Frame_Shift_Ins_p.F29fs	p.F29fs	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	1	241_242	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	29					Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Frame_Shift_Ins	INS	ENST00000328664.4	37	c.86_87insT	CCDS262.1																																																																																				0.520	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124		11	221						11	221	---	---	---	---
RHCE	6006	broad.mit.edu	37	1	25747184	25747185	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:25747184_25747185insA	ENST00000294413.7	-	1	151_152	c.93_94insT	c.(91-96)tttaccfs	p.T32fs	RHCE_ENST00000413854.1_Frame_Shift_Ins_p.T32fs|RHCE_ENST00000243186.6_Frame_Shift_Ins_p.T32fs|RHCE_ENST00000425135.1_Frame_Shift_Ins_p.T32fs|RHCE_ENST00000340849.4_Frame_Shift_Ins_p.T32fs|RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000346452.4_Frame_Shift_Ins_p.T32fs|RHCE_ENST00000349320.3_Intron|RHCE_ENST00000349438.4_Frame_Shift_Ins_p.T32fs|RHCE_ENST00000455194.1_Frame_Shift_Ins_p.T32fs	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	32						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		TCATAGTGGGTAAAAAAATAGA	0.535																																						ENST00000294413.7																			0				endometrium(8)|large_intestine(6)|lung(3)	17						c.(91-96)ttcccafs		Rh blood group, CcEe antigens																																				SO:0001589	frameshift_variant	6006					integral to plasma membrane		g.chr1:25747184_25747185insA	BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.94dupT	1.37:g.25747191_25747191dupA	ENSP00000294413:p.Thr32fs					RHCE_ENST00000346452.4_Frame_Shift_Ins_p.FP31fs|RHCE_ENST00000349438.4_Frame_Shift_Ins_p.FP31fs|RHCE_ENST00000455194.1_Frame_Shift_Ins_p.FP31fs|RHCE_ENST00000413854.1_Frame_Shift_Ins_p.FP31fs|RHCE_ENST00000349320.3_Intron|RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000340849.4_Frame_Shift_Ins_p.FP31fs|RHCE_ENST00000243186.6_Frame_Shift_Ins_p.FP31fs|RHCE_ENST00000425135.1_Frame_Shift_Ins_p.FP31fs	p.FP31fs	NM_020485.4	NP_065231.3	P18577	RHCE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)	1	151_152	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	31					A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Frame_Shift_Ins	INS	ENST00000294413.7	37	c.93_94insT	CCDS30635.1																																																																																				0.535	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020312.2	NM_020485		28	98						28	98	---	---	---	---
SLC9A1	6548	broad.mit.edu	37	1	27426906	27426906	+	Frame_Shift_Del	DEL	G	G	-	rs147891871		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:27426906delG	ENST00000263980.3	-	12	2915	c.2340delC	c.(2338-2340)cccfs	p.P780fs	SLC9A1_ENST00000545949.1_Frame_Shift_Del_p.P441fs|SLC9A1_ENST00000490329.1_5'Flank	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	780					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CACTGGGCGCGGGGGTGAAGA	0.637																																						ENST00000263980.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2338-2340)ccfs		solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	Amiloride(DB00594)						88.0	90.0	90.0					1																	27426906		2203	4300	6503	SO:0001589	frameshift_variant	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27426906delG	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.2340delC	1.37:g.27426906delG	ENSP00000263980:p.Pro780fs					SLC9A1_ENST00000545949.1_Frame_Shift_Del_p.P441fs	p.P780fs	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	12	2915	-			780					B1ALD6|D3DPL4|Q96EM2	Frame_Shift_Del	DEL	ENST00000263980.3	37	c.2340delC	CCDS295.1																																																																																				0.637	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		31	131						31	131	---	---	---	---
TMEM39B	55116	broad.mit.edu	37	1	32568241	32568241	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:32568241delC	ENST00000336294.5	+	9	1592	c.1446delC	c.(1444-1446)agcfs	p.S482fs	TMEM39B_ENST00000373634.4_Frame_Shift_Del_p.S283fs|TMEM39B_ENST00000487305.1_3'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	482						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ACTCTGCTAGCCCCCAGAGAG	0.607																																						ENST00000336294.5																			0				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11						c.(1444-1446)agfs		transmembrane protein 39B							82.0	75.0	77.0					1																	32568241		2203	4300	6503	SO:0001589	frameshift_variant	55116					integral to membrane		g.chr1:32568241delC	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.1446delC	1.37:g.32568241delC	ENSP00000338165:p.Ser482fs					TMEM39B_ENST00000373634.4_Frame_Shift_Del_p.S283fs|TMEM39B_ENST00000487305.1_3'UTR	p.S482fs	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN			9	1592	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	482					B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Frame_Shift_Del	DEL	ENST00000336294.5	37	c.1446delC	CCDS351.2																																																																																				0.607	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		22	88						22	88	---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33233495	33233495	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:33233495delC	ENST00000373480.1	+	2	269	c.166delC	c.(166-168)cccfs	p.P57fs	KIAA1522_ENST00000401073.2_Frame_Shift_Del_p.P116fs|KIAA1522_ENST00000294521.3_Frame_Shift_Del_p.P57fs|KIAA1522_ENST00000373481.3_Frame_Shift_Del_p.P68fs	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	57			P -> S (in dbSNP:rs11803515).							breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGTGGGCGACCCCCCCACCT	0.612																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(343-345)ccfs		KIAA1522							60.0	67.0	65.0					1																	33233495		1985	4150	6135	SO:0001589	frameshift_variant	57648							g.chr1:33233495delC	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.166delC	1.37:g.33233495delC	ENSP00000362579:p.Pro57fs					KIAA1522_ENST00000373481.3_Frame_Shift_Del_p.P68fs|KIAA1522_ENST00000294521.3_Frame_Shift_Del_p.P57fs|KIAA1522_ENST00000373480.1_Frame_Shift_Del_p.P57fs	p.P116fs	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			2	413	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	57					B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Frame_Shift_Del	DEL	ENST00000373480.1	37	c.343delC	CCDS55588.1																																																																																				0.612	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			74	82						74	82	---	---	---	---
DLGAP3	58512	broad.mit.edu	37	1	35370731	35370732	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:35370731_35370732delCC	ENST00000373347.1	-	3	521_522	c.253_254delGG	c.(253-255)ggtfs	p.G85fs	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.G85fs			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	85					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGTGCTGCTACCCCCCCCAACC	0.698																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(253-255)tfs		discs, large (Drosophila) homolog-associated protein 3																																				SO:0001589	frameshift_variant	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370731_35370732delCC	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.253_254delGG	1.37:g.35370737_35370738delCC	ENSP00000362444:p.Gly85fs					DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.G85fs	p.G85fs			O95886	DLGP3_HUMAN			3	521_522	-		Myeloproliferative disorder(586;0.0393)	85					Q5TDD5|Q9H3X7	Frame_Shift_Del	DEL	ENST00000373347.1	37	c.253_254delGG	CCDS30670.1																																																																																				0.698	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		3	6						3	6	---	---	---	---
ZFP69	339559	broad.mit.edu	37	1	40954809	40954809	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:40954809delG	ENST00000372706.1	+	4	1275	c.269delG	c.(268-270)tggfs	p.W90fs	ZFP69_ENST00000372705.3_Frame_Shift_Del_p.W90fs			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	90	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CAGGAAGAGTGGGGGCAGCTG	0.458																																						ENST00000372706.1																			0											c.(268-270)tgfs		ZFP69 zinc finger protein							71.0	71.0	71.0					1																	40954809		2203	4300	6503	SO:0001589	frameshift_variant	339559							g.chr1:40954809delG	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.269delG	1.37:g.40954809delG	ENSP00000361791:p.Trp90fs					ZFP69_ENST00000372705.3_Frame_Shift_Del_p.W90fs	p.W90fs							4	1275	+								Q5SWM5|Q6ZWK8	Frame_Shift_Del	DEL	ENST00000372706.1	37	c.269delG	CCDS30686.1																																																																																				0.458	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		27	83						27	83	---	---	---	---
PTCH2	8643	broad.mit.edu	37	1	45288255	45288257	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:45288255_45288257delGGA	ENST00000372192.3	-	22	3572_3574	c.3442_3444delTCC	c.(3442-3444)tccdel	p.S1148del	PTCH2_ENST00000447098.2_Intron|RNU5E-6P_ENST00000365574.1_RNA	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1148					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TCTGGGGCAGGGAGGAGGATGCC	0.626									Basal Cell Nevus syndrome																													ENST00000372192.3																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3442-3444)del		patched 2																																				SO:0001651	inframe_deletion	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45288255_45288257delGGA	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.3442_3444delTCC	1.37:g.45288261_45288263delGGA	ENSP00000361266:p.Ser1148del					PTCH2_ENST00000447098.2_Intron	p.S1148del	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN			22	3572_3574	-	Acute lymphoblastic leukemia(166;0.155)		1148					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	In_Frame_Del	DEL	ENST00000372192.3	37	c.3442_3444delTCC	CCDS516.1																																																																																				0.626	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		38	130						38	130	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47339125	47339125	+	RNA	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:47339125delC	ENST00000505841.1	-	0	775					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CCCCCTGGCACCCCCCCCATG	0.443																																						ENST00000505841.1																			0																																																			163720							g.chr1:47339125delC	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47339125delC								NR_002788.2						0	775	-								Q66ZJ5	RNA	DEL	ENST00000505841.1	37																																																																																						0.443	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		4	9						4	9	---	---	---	---
FGGY	55277	broad.mit.edu	37	1	59812017	59812017	+	Frame_Shift_Del	DEL	G	G	-	rs145440779		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:59812017delG	ENST00000303721.7	+	4	586	c.412delG	c.(412-414)gggfs	p.G139fs	FGGY_ENST00000371218.4_Frame_Shift_Del_p.G139fs|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	139					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CCAGTACGTCGGGGGGGTGAT	0.502																																						ENST00000371218.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						c.(412-414)ggfs		FGGY carbohydrate kinase domain containing							136.0	105.0	115.0					1																	59812017		2203	4300	6503	SO:0001589	frameshift_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59812017delG		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.412delG	1.37:g.59812017delG	ENSP00000305922:p.Gly139fs					FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Frame_Shift_Del_p.G139fs	p.G139fs	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN			4	596	+	all_cancers(7;7.36e-05)		139					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Frame_Shift_Del	DEL	ENST00000303721.7	37	c.412delG	CCDS611.2																																																																																				0.502	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		14	68						14	68	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62267407	62267407	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:62267407delA	ENST00000371158.2	+	12	1629	c.1515delA	c.(1513-1515)ttafs	p.L505fs	INADL_ENST00000316485.6_Frame_Shift_Del_p.L505fs	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	505					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTGATACTTTAAAAAATGACA	0.353																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(1513-1515)ttfs		InaD-like (Drosophila)							81.0	88.0	86.0					1																	62267407		2202	4300	6502	SO:0001589	frameshift_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62267407delA	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1515delA	1.37:g.62267407delA	ENSP00000360200:p.Leu505fs					INADL_ENST00000316485.6_Frame_Shift_Del_p.L505fs	p.L505fs	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			12	1629	+			505					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Frame_Shift_Del	DEL	ENST00000371158.2	37	c.1515delA	CCDS617.2																																																																																				0.353	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		23	88						23	88	---	---	---	---
MIER1	57708	broad.mit.edu	37	1	67452114	67452114	+	3'UTR	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:67452114delT	ENST00000355356.3	+	0	3219				MIER1_ENST00000355977.6_Frame_Shift_Del_p.H357fs|MIER1_ENST00000371018.3_Frame_Shift_Del_p.H457fs|MIER1_ENST00000357692.2_3'UTR|MIER1_ENST00000371014.1_Frame_Shift_Del_p.H473fs|MIER1_ENST00000371016.1_Frame_Shift_Del_p.H437fs|MIER1_ENST00000401042.3_Frame_Shift_Del_p.H420fs	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator						positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TTCCAGTTCATTTTTCAGCCA	0.328																																						ENST00000371018.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						c.(1369-1371)cafs		mesoderm induction early response 1, transcriptional regulator							156.0	142.0	146.0					1																	67452114		1809	4077	5886	SO:0001624	3_prime_UTR_variant	57708				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr1:67452114delT		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.*1531T>-	1.37:g.67452114delT						MIER1_ENST00000355356.3_3'UTR|MIER1_ENST00000371016.1_Frame_Shift_Del_p.H437fs|MIER1_ENST00000401042.3_Frame_Shift_Del_p.H420fs|MIER1_ENST00000371014.1_Frame_Shift_Del_p.H473fs|MIER1_ENST00000357692.2_3'UTR|MIER1_ENST00000355977.6_Frame_Shift_Del_p.H357fs	p.H457fs	NM_001077702.2|NM_001146111.1|NM_001146112.1|NM_020948.3	NP_001071170.2|NP_001139583.1|NP_001139584.1|NP_065999.2	Q8N108	MIER1_HUMAN			16	1687	+			0					C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Frame_Shift_Del	DEL	ENST00000355356.3	37	c.1371delT	CCDS41348.1																																																																																				0.328	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948		28	89						28	89	---	---	---	---
ASB17	127247	broad.mit.edu	37	1	76387916	76387916	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:76387916delT	ENST00000284142.6	-	2	669	c.530delA	c.(529-531)aacfs	p.N177fs		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	177					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.N177fs*21(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						GTTGATAGGGTTTTTTTCTCT	0.368																																						ENST00000284142.6																			1	Insertion - Frameshift(1)	p.N177fs*21(1)	ovary(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						c.(529-531)acfs		ankyrin repeat and SOCS box containing 17							109.0	94.0	99.0					1																	76387916		2203	4300	6503	SO:0001589	frameshift_variant	127247				intracellular signal transduction			g.chr1:76387916delT	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.530delA	1.37:g.76387916delT	ENSP00000284142:p.Asn177fs						p.N177fs	NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN			2	669	-			177					B1APB8|Q8N0X5	Frame_Shift_Del	DEL	ENST00000284142.6	37	c.530delA	CCDS671.1																																																																																				0.368	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		16	27						16	27	---	---	---	---
IFI44L	10964	broad.mit.edu	37	1	79095512	79095513	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:79095512_79095513insT	ENST00000370751.5	+	4	814_815	c.635_636insT	c.(634-639)agttttfs	p.SF212fs	IFI44L_ENST00000342282.3_5'UTR|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	212					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GGAAAGTCCAGTTTTTTCAATT	0.45																																						ENST00000370751.4																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(634-636)attfs		interferon-induced protein 44-like																																				SO:0001589	frameshift_variant	10964					cytoplasm		g.chr1:79095512_79095513insT	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.641dupT	1.37:g.79095518_79095518dupT	ENSP00000359787:p.Ser212fs					IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_5'UTR	p.I212fs	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN			4	814_815	+			212					Q86TE1|Q96B64|Q99984	Frame_Shift_Ins	INS	ENST00000370751.5	37	c.635_636insT	CCDS687.2																																																																																				0.450	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		16	64						16	64	---	---	---	---
RPAP2	79871	broad.mit.edu	37	1	92846371	92846371	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:92846371delA	ENST00000610020.1	+	12	1888	c.1779delA	c.(1777-1779)ctafs	p.L593fs		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	593					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AATTACATCTAAAAAATGAAG	0.363																																						ENST00000370343.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22						c.(1777-1779)ctfs		RNA polymerase II associated protein 2							119.0	119.0	119.0					1																	92846371		2203	4300	6503	SO:0001589	frameshift_variant	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92846371delA	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1779delA	1.37:g.92846371delA	ENSP00000476948:p.Leu593fs						p.L593fs	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	12	1888	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	593					C9JKB5|Q49AS7|Q9H8Y2	Frame_Shift_Del	DEL	ENST00000610020.1	37	c.1779delA	CCDS740.1																																																																																				0.363	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		27	89						27	89	---	---	---	---
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	lincRNA	INS	-	-	TG	rs370521196|rs376899040		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:143391935_143391936insTG	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATATATATATAAAGAGATTG	0.252																																						ENST00000428624.1																			0																																																			0							g.chr1:143391935_143391936insTG																													1.37:g.143391935_143391936insTG						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	INS	ENST00000428624.1	37																																																																																						0.252	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			5	6						5	6	---	---	---	---
CREB3L4	148327	broad.mit.edu	37	1	153941609	153941609	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:153941609delG	ENST00000368607.3	+	3	644	c.378delG	c.(376-378)cagfs	p.Q126fs	CREB3L4_ENST00000271889.4_Frame_Shift_Del_p.Q126fs|SLC39A1_ENST00000310483.6_5'Flank|CREB3L4_ENST00000405694.3_Intron|CREB3L4_ENST00000368601.1_Frame_Shift_Del_p.Q126fs|CREB3L4_ENST00000368603.1_Frame_Shift_Del_p.Q126fs|CREB3L4_ENST00000368600.3_Frame_Shift_Del_p.Q106fs|RP11-422P24.10_ENST00000608147.1_RNA	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	126					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGAGGATGCAGGGGGAAACTG	0.587																																						ENST00000368607.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13						c.(376-378)cafs		cAMP responsive element binding protein 3-like 4							103.0	111.0	109.0					1																	153941609		2203	4300	6503	SO:0001589	frameshift_variant	148327				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:153941609delG	AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"""basic leucine zipper proteins"""	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.378delG	1.37:g.153941609delG	ENSP00000357596:p.Gln126fs					CREB3L4_ENST00000405694.3_Intron|CREB3L4_ENST00000368601.1_Frame_Shift_Del_p.Q126fs|CREB3L4_ENST00000368600.3_Frame_Shift_Del_p.Q106fs|CREB3L4_ENST00000368603.1_Frame_Shift_Del_p.Q126fs|CREB3L4_ENST00000271889.4_Frame_Shift_Del_p.Q126fs	p.Q126fs	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		3	644	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		126					D3DV62|Q5T4L0|Q86YW6	Frame_Shift_Del	DEL	ENST00000368607.3	37	c.378delG	CCDS1056.1																																																																																				0.587	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	NM_130898		44	176						44	176	---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155884009	155884009	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:155884009delT	ENST00000368321.3	-	14	1771	c.1748delA	c.(1747-1749)aatfs	p.N583fs	RIT1_ENST00000539040.1_5'Flank|RIT1_ENST00000368323.3_5'Flank|KIAA0907_ENST00000368320.3_3'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	583							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ACTACTTGCATTTTTATGACC	0.448																																						ENST00000368321.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1747-1749)atfs		KIAA0907							147.0	134.0	138.0					1																	155884009		2203	4300	6503	SO:0001589	frameshift_variant	22889							g.chr1:155884009delT	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1748delA	1.37:g.155884009delT	ENSP00000357304:p.Asn583fs					KIAA0907_ENST00000368320.3_3'UTR	p.N583fs	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		14	1771	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		583					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Frame_Shift_Del	DEL	ENST00000368321.3	37	c.1748delA	CCDS30885.1																																																																																				0.448	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		27	99						27	99	---	---	---	---
PRCC	5546	broad.mit.edu	37	1	156761536	156761536	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:156761536delC	ENST00000271526.4	+	4	1403	c.1131delC	c.(1129-1131)gtcfs	p.V377fs	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Intron	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	377					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.Q380fs*12(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGGCCCTGGTCCCCCCCCAGG	0.527			T	TFE3	papillary renal																																	ENST00000271526.4				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	1	Insertion - Frameshift(1)	p.Q380fs*12(1)	lung(1)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(1129-1131)gtfs		papillary renal cell carcinoma (translocation-associated)							74.0	74.0	74.0					1																	156761536		2203	4300	6503	SO:0001589	frameshift_variant	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156761536delC	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1131delC	1.37:g.156761536delC	ENSP00000271526:p.Val377fs					PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Intron	p.V377fs	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			4	1403	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		377					A8K1F7|O00665|O00724|Q5SZ06	Frame_Shift_Del	DEL	ENST00000271526.4	37	c.1131delC	CCDS1157.1																																																																																				0.527	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		26	105						26	105	---	---	---	---
CADM3	57863	broad.mit.edu	37	1	159166185	159166186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:159166185_159166186insC	ENST00000368125.4	+	6	880_881	c.723_724insC	c.(724-726)cccfs	p.P242fs	CADM3_ENST00000368124.4_Frame_Shift_Ins_p.P276fs|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	242	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GGCCAGACCCTCCCCATCCTCG	0.52											OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368125.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(721-726)cccccafs		cell adhesion molecule 3																																				SO:0001589	frameshift_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159166185_159166186insC	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.727dupC	1.37:g.159166189_159166189dupC	ENSP00000357107:p.Pro242fs		OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1799	CADM3_ENST00000368124.4_Frame_Shift_Ins_p.PP275fs|CTA-134P22.2_ENST00000415675.2_RNA	p.PP241fs	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			6	880_881	+	all_hematologic(112;0.0429)		241			Ig-like C2-type 2.		Q8IZQ9|Q9NVJ5|Q9UJP1	Frame_Shift_Ins	INS	ENST00000368125.4	37	c.723_724insC	CCDS44251.1																																																																																				0.520	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		9	49						9	49	---	---	---	---
CCDC181	57821	broad.mit.edu	37	1	169366580	169366580	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:169366580delT	ENST00000367806.3	-	5	1417	c.1265delA	c.(1264-1266)aagfs	p.K422fs	CCDC181_ENST00000367805.3_Frame_Shift_Del_p.K421fs|CCDC181_ENST00000545005.1_Frame_Shift_Del_p.K421fs	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	422						nucleus (GO:0005634)											CTCTTCGTGCTTTTTTTTAAG	0.363																																						ENST00000545005.1																			0											c.(1261-1263)agfs		coiled-coil domain containing 181							138.0	117.0	124.0					1																	169366580		2203	4300	6503	SO:0001589	frameshift_variant	57821							g.chr1:169366580delT	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.1265delA	1.37:g.169366580delT	ENSP00000356780:p.Lys422fs					CCDC181_ENST00000367805.3_Frame_Shift_Del_p.K421fs|CCDC181_ENST00000367806.3_Frame_Shift_Del_p.K422fs	p.K421fs							6	1769	-								O60780|Q53FD5|Q5TID9|Q8TC48	Frame_Shift_Del	DEL	ENST00000367806.3	37	c.1262delA																																																																																					0.363	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		8	35						8	35	---	---	---	---
CAMSAP2	23271	broad.mit.edu	37	1	200827020	200827020	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:200827020delA	ENST00000236925.4	+	18	4352	c.4303delA	c.(4303-4305)aaafs	p.K1436fs	CAMSAP2_ENST00000358823.2_Frame_Shift_Del_p.K1425fs|CAMSAP2_ENST00000413307.2_Frame_Shift_Del_p.K1409fs			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1436	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										ATCTATCACTAAAAAAATGAT	0.373																																						ENST00000358823.2																			0											c.(4270-4272)aafs		calmodulin regulated spectrin-associated protein family, member 2							67.0	72.0	70.0					1																	200827020		2203	4300	6503	SO:0001589	frameshift_variant	23271					cytoplasm|microtubule	protein binding	g.chr1:200827020delA	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.4303delA	1.37:g.200827020delA	ENSP00000236925:p.Lys1436fs					CAMSAP2_ENST00000413307.2_Frame_Shift_Del_p.K1409fs|CAMSAP2_ENST00000236925.4_Frame_Shift_Del_p.K1436fs	p.K1425fs	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			17	4540	+			1436			CKK.		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Frame_Shift_Del	DEL	ENST00000236925.4	37	c.4270delA																																																																																					0.373	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		27	95						27	95	---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214830564	214830564	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:214830564delA	ENST00000366955.3	+	18	8942	c.8774delA	c.(8773-8775)caafs	p.Q2925fs		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3021	Sufficient for centromere localization.|Sufficient for self-association.				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)		TCATCTGGCCAAAATAAAGCT	0.453																																					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.(8773-8775)cafs		centromere protein F, 350/400kDa							101.0	98.0	99.0					1																	214830564		2203	4300	6503	SO:0001589	frameshift_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.chr1:214830564delA	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.8774delA	1.37:g.214830564delA	ENSP00000355922:p.Gln2925fs						p.Q2925fs	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)	18	8942	+			3021			Sufficient for centromere localization.|Sufficient for self-association.		Q13171|Q13246|Q5VVM7	Frame_Shift_Del	DEL	ENST00000366955.3	37	c.8774delA	CCDS31023.1																																																																																				0.453	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		33	109						33	109	---	---	---	---
TP53BP2	7159	broad.mit.edu	37	1	224001956	224001956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:224001956delG	ENST00000343537.7	-	3	566	c.275delC	c.(274-276)cctfs	p.P92fs	TP53BP2_ENST00000391878.2_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	86					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GTCCCTGCCAGGGGGGCGTTC	0.473																																						ENST00000343537.7																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29						c.(274-276)ctfs		tumor protein p53 binding protein, 2							100.0	102.0	102.0					1																	224001956		1918	4156	6074	SO:0001589	frameshift_variant	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:224001956delG	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.275delC	1.37:g.224001956delG	ENSP00000341957:p.Pro92fs					TP53BP2_ENST00000391878.2_5'UTR	p.P92fs	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	3	566	-			86					B4DG66|Q12892|Q86X75|Q96KQ3	Frame_Shift_Del	DEL	ENST00000343537.7	37	c.275delC	CCDS44319.1																																																																																				0.473	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		27	92						27	92	---	---	---	---
CCSAP	126731	broad.mit.edu	37	1	229478194	229478194	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:229478194delC	ENST00000366687.1	-	1	70	c.19delG	c.(19-21)gtgfs	p.V7fs	CCSAP_ENST00000284617.2_Frame_Shift_Del_p.V7fs|CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000366686.1_5'Flank|CCSAP_ENST00000452552.1_Frame_Shift_Del_p.V7fs			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein	7					multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)											TCGCTCTTCACCCCGCTCCCC	0.721																																						ENST00000284617.2																			0											c.(19-21)tgfs		centriole, cilia and spindle-associated protein							10.0	12.0	11.0					1																	229478194		2145	4208	6353	SO:0001589	frameshift_variant	126731							g.chr1:229478194delC	BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"""centriole and spindle-associated protein"""		"""chromosome 1 open reading frame 96"""	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.19delG	1.37:g.229478194delC	ENSP00000355648:p.Val7fs					CCSAP_ENST00000452552.1_Frame_Shift_Del_p.V7fs|CCSAP_ENST00000366687.1_Frame_Shift_Del_p.V7fs|CCSAP_ENST00000483092.1_5'UTR	p.V7fs	NM_145257.3	NP_660300.3					2	143	-								A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	Frame_Shift_Del	DEL	ENST00000366687.1	37	c.19delG	CCDS1577.1																																																																																				0.721	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091839.1	NM_145257		12	35						12	35	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240371608	240371608	+	Frame_Shift_Del	DEL	C	C	-	rs201329780		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:240371608delC	ENST00000319653.9	+	5	3726	c.3496delC	c.(3496-3498)cccfs	p.P1167fs		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1167	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCCCCACCTCCCCCTCTACC	0.692																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3496-3498)ccfs		formin 2							4.0	5.0	5.0					1																	240371608		1994	3981	5975	SO:0001589	frameshift_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371608delC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3496delC	1.37:g.240371608delC	ENSP00000318884:p.Pro1167fs						p.P1167fs	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3726	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1167			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Frame_Shift_Del	DEL	ENST00000319653.9	37	c.3496delC	CCDS31069.2																																																																																				0.692	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		9	20						9	20	---	---	---	---
OR2W3	343171	broad.mit.edu	37	1	248059733	248059733	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr1:248059733delC	ENST00000360358.3	+	1	845	c.845delC	c.(844-846)accfs	p.T282fs	OR2W3_ENST00000537741.1_Frame_Shift_Del_p.T282fs	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L284fs*14(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACATTGTCACCCCCCTCCTC	0.507																																						ENST00000537741.1																			1	Deletion - Frameshift(1)	p.L284fs*14(1)	large_intestine(1)	breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49						c.(844-846)acfs		olfactory receptor, family 2, subfamily W, member 3							74.0	70.0	71.0					1																	248059733		2203	4300	6503	SO:0001589	frameshift_variant	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059733delC	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.845delC	1.37:g.248059733delC	ENSP00000353516:p.Thr282fs					OR2W3_ENST00000360358.3_Frame_Shift_Del_p.T282fs	p.T282fs			Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	1102	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		282					Q6IF06|Q8NG86	Frame_Shift_Del	DEL	ENST00000360358.3	37	c.845delC	CCDS31099.1																																																																																				0.507	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		23	80						23	80	---	---	---	---
ASAP2	8853	broad.mit.edu	37	2	9528643	9528643	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:9528643delC	ENST00000281419.3	+	22	2691	c.2351delC	c.(2350-2352)gccfs	p.A784fs	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Frame_Shift_Del_p.A784fs	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	784	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ACCACCAGCGCCCCCCCGCTT	0.577																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(2350-2352)gcfs		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							26.0	30.0	28.0					2																	9528643		2203	4299	6502	SO:0001589	frameshift_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9528643delC	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2351delC	2.37:g.9528643delC	ENSP00000281419:p.Ala784fs					ASAP2_ENST00000315273.4_Frame_Shift_Del_p.A784fs|ASAP2_ENST00000491413.1_3'UTR	p.A784fs	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN			22	2691	+			784			Pro-rich.		D6W4Y8	Frame_Shift_Del	DEL	ENST00000281419.3	37	c.2351delC	CCDS1661.1																																																																																				0.577	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		22	56						22	56	---	---	---	---
EMILIN1	11117	broad.mit.edu	37	2	27303108	27303108	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:27303108delG	ENST00000380320.4	+	2	759	c.260delG	c.(259-261)tggfs	p.W87fs		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	87	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTGTGCCTGGGGCCAGCCC	0.612																																						ENST00000380320.4																			0				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26						c.(259-261)tgfs		elastin microfibril interfacer 1							174.0	154.0	161.0					2																	27303108		2203	4300	6503	SO:0001589	frameshift_variant	11117				cell adhesion	collagen		g.chr2:27303108delG	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.260delG	2.37:g.27303108delG	ENSP00000369677:p.Trp87fs						p.W87fs	NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN			2	759	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		87			EMI.		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Frame_Shift_Del	DEL	ENST00000380320.4	37	c.260delG	CCDS1733.1																																																																																				0.612	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		57	175						57	175	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29294162	29294162	+	Frame_Shift_Del	DEL	G	G	-	rs113376827		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:29294162delG	ENST00000331664.5	-	1	2965	c.2966delC	c.(2965-2967)cctfs	p.P989fs		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	989					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCTGCCCACAGGGGGGCTTCT	0.637																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(2965-2967)ctfs		chromosome 2 open reading frame 71							38.0	41.0	40.0					2																	29294162		1904	4108	6012	SO:0001589	frameshift_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29294162delG		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2966delC	2.37:g.29294162delG	ENSP00000332809:p.Pro989fs						p.P989fs	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	2965	-			989						Frame_Shift_Del	DEL	ENST00000331664.5	37	c.2966delC	CCDS42669.1																																																																																				0.637	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		30	58						30	58	---	---	---	---
RASGRP3	25780	broad.mit.edu	37	2	33752314	33752315	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:33752314_33752315insA	ENST00000403687.3	+	10	1658_1659	c.918_919insA	c.(919-921)aaafs	p.K307fs	RASGRP3_ENST00000407811.1_Frame_Shift_Ins_p.K307fs|RASGRP3_ENST00000402538.3_Frame_Shift_Ins_p.K307fs	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	307	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GAGTACACTTGAAAGACTTGAT	0.47																																						ENST00000403687.3																			0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11						c.(916-921)ttaagafs		RAS guanyl releasing protein 3 (calcium and DAG-regulated)																																				SO:0001589	frameshift_variant	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33752314_33752315insA	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.921dupA	2.37:g.33752317_33752317dupA	ENSP00000384192:p.Lys307fs					RASGRP3_ENST00000407811.1_Frame_Shift_Ins_p.R307fs|RASGRP3_ENST00000402538.3_Frame_Shift_Ins_p.R307fs	p.R307fs	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN			10	1658_1659	+	all_hematologic(175;0.115)		307			Ras-GEF.		D6W583|O94931|Q53SD7	Frame_Shift_Ins	INS	ENST00000403687.3	37	c.918_919insA	CCDS46256.1																																																																																				0.470	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		14	50						14	50	---	---	---	---
FOXN2	3344	broad.mit.edu	37	2	48600444	48600446	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:48600444_48600446delTGC	ENST00000340553.3	+	6	978_980	c.717_719delTGC	c.(715-720)gatgct>gat	p.A243del		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	243					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CTGATATTGATGCTGCTGCTGCA	0.305																																						ENST00000340553.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(715-720)gat>ga		forkhead box N2																																				SO:0001651	inframe_deletion	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	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.chr2:48600444_48600446delTGC		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.717_719delTGC	2.37:g.48600453_48600455delTGC	ENSP00000343633:p.Ala243del						p.DA239del	NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		6	978_980	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	239					Q15769|Q6P4Q2	In_Frame_Del	DEL	ENST00000340553.3	37	c.717_719delTGC	CCDS1838.1																																																																																				0.305	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158		15	108						15	108	---	---	---	---
LINC01122	400955	broad.mit.edu	37	2	58688842	58688843	+	lincRNA	DEL	CT	CT	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:58688842_58688843delCT	ENST00000452840.1	+	0	127																											TCTCTGCTAGCTCTCTCTCTCT	0.465																																						ENST00000452840.1																			0																																																			400955							g.chr2:58688842_58688843delCT																													2.37:g.58688852_58688853delCT														0	127	+									RNA	DEL	ENST00000452840.1	37																																																																																						0.465	AC007092.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000327022.1			11	54						11	54	---	---	---	---
OTX1	5013	broad.mit.edu	37	2	63282711	63282713	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:63282711_63282713delAAG	ENST00000282549.2	+	5	601_603	c.325_327delAAG	c.(325-327)aagdel	p.K111del	OTX1_ENST00000366671.3_In_Frame_Del_p.K111del	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	111					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CCGCCCAGCCAAGAAGAAGTCCT	0.655																																						ENST00000366671.3																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(325-327)del		orthodenticle homeobox 1			,	3,4263		1,1,2131					,	2.6	1.0			36	9,8245		4,1,4122	no	coding,coding	OTX1	NM_014562.3,NM_001199770.1	,	5,2,6253	A1A1,A1R,RR		0.109,0.0703,0.0958	,	,		12,12508				SO:0001651	inframe_deletion	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63282711_63282713delAAG		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.325_327delAAG	2.37:g.63282717_63282719delAAG	ENSP00000282549:p.Lys111del					OTX1_ENST00000282549.2_In_Frame_Del_p.K111del	p.K111del	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN			5	601_603	+	Lung NSC(7;0.121)|all_lung(7;0.211)		111					A6NHA2|B3KTJ4|Q53TG6	In_Frame_Del	DEL	ENST00000282549.2	37	c.325_327delAAG	CCDS1873.1																																																																																				0.655	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			22	82						22	82	---	---	---	---
ZNF638	27332	broad.mit.edu	37	2	71650549	71650549	+	Frame_Shift_Del	DEL	A	A	-	rs368004515		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:71650549delA	ENST00000409544.1	+	22	4535	c.3905delA	c.(3904-3906)gaafs	p.E1302fs	ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Frame_Shift_Del_p.E1302fs|ZNF638_ENST00000409407.1_Frame_Shift_Del_p.E242fs	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1302	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AATATTTCTGAAAAAAAAGGT	0.368																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(3904-3906)gafs		zinc finger protein 638							52.0	54.0	53.0					2																	71650549		2203	4299	6502	SO:0001589	frameshift_variant	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71650549delA	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3905delA	2.37:g.71650549delA	ENSP00000386433:p.Glu1302fs					ZNF638_ENST00000409407.1_Frame_Shift_Del_p.E242fs|ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Frame_Shift_Del_p.E1302fs	p.E1302fs	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			22	4535	+			1302			Glu-rich.		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Frame_Shift_Del	DEL	ENST00000409544.1	37	c.3905delA	CCDS1917.1																																																																																				0.368	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		11	48						11	48	---	---	---	---
UNC50	25972	broad.mit.edu	37	2	99232795	99232795	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:99232795delT	ENST00000357765.2	+	4	679	c.527delT	c.(526-528)cttfs	p.L176fs	UNC50_ENST00000409347.1_Frame_Shift_Del_p.L193fs|UNC50_ENST00000409975.1_Frame_Shift_Del_p.L193fs	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	176					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						TTTATCCAGCTTTTTTTCATC	0.408																																						ENST00000409975.1																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						c.(577-579)ctfs		unc-50 homolog (C. elegans)							218.0	201.0	207.0					2																	99232795		2203	4300	6503	SO:0001589	frameshift_variant	25972				protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding	g.chr2:99232795delT		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.527delT	2.37:g.99232795delT	ENSP00000350409:p.Leu176fs					UNC50_ENST00000409347.1_Frame_Shift_Del_p.L193fs|UNC50_ENST00000357765.2_Frame_Shift_Del_p.L176fs	p.L193fs			Q53HI1	UNC50_HUMAN			3	1708	+			176					D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Frame_Shift_Del	DEL	ENST00000357765.2	37	c.578delT	CCDS2035.1																																																																																				0.408	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044		10	151						10	151	---	---	---	---
MGAT4A	11320	broad.mit.edu	37	2	99242041	99242041	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:99242041delT	ENST00000264968.3	-	15	1959	c.1596delA	c.(1594-1596)aaafs	p.K532fs	MGAT4A_ENST00000414521.2_Intron|MGAT4A_ENST00000409391.1_Frame_Shift_Del_p.K532fs|MGAT4A_ENST00000393487.1_Frame_Shift_Del_p.K532fs			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	532					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AGTTGGTGGCTTTTTTAATAT	0.254																																						ENST00000393487.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						c.(1594-1596)aafs		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A							47.0	53.0	50.0					2																	99242041		2200	4286	6486	SO:0001589	frameshift_variant	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99242041delT	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.1596delA	2.37:g.99242041delT	ENSP00000264968:p.Lys532fs					MGAT4A_ENST00000264968.2_Frame_Shift_Del_p.K532fs|MGAT4A_ENST00000409391.1_Frame_Shift_Del_p.K532fs|MGAT4A_ENST00000414521.2_Intron	p.K532fs	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN			16	1909	-			532					B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Frame_Shift_Del	DEL	ENST00000264968.3	37	c.1596delA	CCDS2036.1																																																																																				0.254	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		10	63						10	63	---	---	---	---
MRPS9	64965	broad.mit.edu	37	2	105705511	105705512	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:105705511_105705512insA	ENST00000258455.3	+	6	669_670	c.559_560insA	c.(559-561)gaafs	p.E187fs		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	187					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCTGCTCCCAGAAAAAACTGTA	0.317																																						ENST00000258455.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(559-561)aaafs		mitochondrial ribosomal protein S9																																				SO:0001589	frameshift_variant	64965				DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr2:105705511_105705512insA		CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"""Mitochondrial ribosomal proteins / small subunits"""	14501	protein-coding gene	gene with protein product	"""28S ribosomal protein S9, mitochondrial"""	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.565dupA	2.37:g.105705517_105705517dupA	ENSP00000258455:p.Glu187fs						p.K187fs	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN			6	669_670	+			187					Q6PG40	Frame_Shift_Ins	INS	ENST00000258455.3	37	c.559_560insA	CCDS2065.1																																																																																				0.317	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640		17	61						17	61	---	---	---	---
GCC2	9648	broad.mit.edu	37	2	109086477	109086477	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:109086477delA	ENST00000309863.6	+	6	1406	c.692delA	c.(691-693)caafs	p.Q231fs	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	231					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CAGCATTACCAAAAAAATATT	0.353																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(691-693)cafs		GRIP and coiled-coil domain containing 2							64.0	74.0	70.0					2																	109086477		2203	4298	6501	SO:0001589	frameshift_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109086477delA	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.692delA	2.37:g.109086477delA	ENSP00000307939:p.Gln231fs					GCC2_ENST00000485546.1_3'UTR	p.Q231fs	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			6	1406	+			231					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Frame_Shift_Del	DEL	ENST00000309863.6	37	c.692delA	CCDS33268.1																																																																																				0.353	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		35	150						35	150	---	---	---	---
POLR1B	84172	broad.mit.edu	37	2	113332545	113332545	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:113332545delT	ENST00000263331.5	+	15	3227	c.2647delT	c.(2647-2649)tttfs	p.F883fs	POLR1B_ENST00000537335.1_Frame_Shift_Del_p.F672fs|POLR1B_ENST00000417433.2_Frame_Shift_Del_p.F827fs|POLR1B_ENST00000541869.1_Frame_Shift_Del_p.F921fs|POLR1B_ENST00000409894.3_Frame_Shift_Del_p.F700fs	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	883					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CGGAGATAAATTTGCCAGTCG	0.473																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2647-2649)ttfs		polymerase (RNA) I polypeptide B, 128kDa							116.0	119.0	118.0					2																	113332545		2203	4300	6503	SO:0001589	frameshift_variant	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113332545delT	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.2647delT	2.37:g.113332545delT	ENSP00000263331:p.Phe883fs					POLR1B_ENST00000417433.2_Frame_Shift_Del_p.F827fs|POLR1B_ENST00000541869.1_Frame_Shift_Del_p.F921fs|POLR1B_ENST00000409894.3_Frame_Shift_Del_p.F700fs|POLR1B_ENST00000537335.1_Frame_Shift_Del_p.F672fs	p.F883fs	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			15	3227	+			883					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Frame_Shift_Del	DEL	ENST00000263331.5	37	c.2647delT	CCDS2097.1																																																																																				0.473	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		45	144						45	144	---	---	---	---
LOC101928553	101928553	broad.mit.edu	37	2	149627550	149627550	+	RNA	DEL	T	T	-	rs565892146	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:149627550delT	ENST00000601658.1	-	0	676																											cctttgcccattttttTTTAA	0.328													TTTTTTTTT|TTTTTTTTT|TTTTTTTT|deletion	17	0.00339457	0.0083	0.0	5008	,	,		18731	0.0		0.003	False		,,,				2504	0.0031					ENST00000601658.1																			0																																																			101928553							g.chr2:149627550delT																													2.37:g.149627550delT														0	676	-									RNA	DEL	ENST00000601658.1	37																																																																																						0.328	AC105402.4-002	KNOWN	basic	antisense	antisense	OTTHUMT00000462024.1			7	18						7	18	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152466344	152466345	+	Frame_Shift_Ins	INS	-	-	T	rs571444956		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:152466344_152466345insT	ENST00000172853.10	-	77	11726_11727	c.11579_11580insA	c.(11578-11580)aagfs	p.K3860fs	NEB_ENST00000397345.3_Frame_Shift_Ins_p.K4103fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.K3860fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.K4103fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.K4103fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.K4103fs			P20929	NEBU_HUMAN	nebulin	3860					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGTCATAGGCCTTTTTTGCTTG	0.446																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(12307-12309)agcfs		nebulin																																				SO:0001589	frameshift_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152466344_152466345insT	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11580dupA	2.37:g.152466350_152466350dupT	ENSP00000172853:p.Lys3860fs					NEB_ENST00000397345.3_Frame_Shift_Ins_p.S4103fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.S3860fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.S4103fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.S4103fs|NEB_ENST00000172853.10_Frame_Shift_Ins_p.S3860fs	p.S4103fs	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	81	12510_12511	-			4102					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Ins	INS	ENST00000172853.10	37	c.12308_12309insA																																																																																					0.446	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		47	148						47	148	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152467061	152467062	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:152467061_152467062insT	ENST00000172853.10	-	76	11404_11405	c.11257_11258insA	c.(11257-11259)agtfs	p.S3753fs	NEB_ENST00000397345.3_Frame_Shift_Ins_p.S3996fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.S3753fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.S3996fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.S3996fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.S3996fs			P20929	NEBU_HUMAN	nebulin	3753					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGCCTTGGCACTTTTGATGGAA	0.49																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(11986-11988)tgcfs		nebulin																																				SO:0001589	frameshift_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152467061_152467062insT	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11258dupA	2.37:g.152467065_152467065dupT	ENSP00000172853:p.Ser3753fs					NEB_ENST00000397345.3_Frame_Shift_Ins_p.C3996fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.C3753fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.C3996fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.C3996fs|NEB_ENST00000172853.10_Frame_Shift_Ins_p.C3753fs	p.C3996fs	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	80	12188_12189	-			3995					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Ins	INS	ENST00000172853.10	37	c.11986_11987insA																																																																																					0.490	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		61	177						61	177	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162751202	162751202	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:162751202delT	ENST00000446997.1	+	11	1301	c.1208delT	c.(1207-1209)gttfs	p.V403fs	SLC4A10_ENST00000415876.2_Frame_Shift_Del_p.V373fs|SLC4A10_ENST00000272716.5_Frame_Shift_Del_p.V373fs|SLC4A10_ENST00000421911.1_Frame_Shift_Del_p.V403fs|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_Frame_Shift_Del_p.L374fs|SLC4A10_ENST00000375514.5_Frame_Shift_Del_p.V384fs	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	403					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TTTCATGATGTTGCCTATAAA	0.318																																						ENST00000375514.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1150-1152)gtfs		solute carrier family 4, sodium bicarbonate transporter, member 10							91.0	82.0	85.0					2																	162751202		1806	4069	5875	SO:0001589	frameshift_variant	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162751202delT		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1208delT	2.37:g.162751202delT	ENSP00000393066:p.Val403fs					SLC4A10_ENST00000446997.1_Frame_Shift_Del_p.V403fs|SLC4A10_ENST00000272716.5_Frame_Shift_Del_p.V373fs|SLC4A10_ENST00000421911.1_Frame_Shift_Del_p.V403fs|SLC4A10_ENST00000415876.2_Frame_Shift_Del_p.V373fs|SLC4A10_ENST00000535165.1_Frame_Shift_Del_p.L374fs|SLC4A10_ENST00000493021.1_3'UTR	p.V384fs	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN			11	1438	+			403					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Frame_Shift_Del	DEL	ENST00000446997.1	37	c.1151delT	CCDS54411.1																																																																																				0.318	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		15	23						15	23	---	---	---	---
DYNC1I2	1781	broad.mit.edu	37	2	172549339	172549339	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:172549339delA	ENST00000397119.3	+	3	328	c.161delA	c.(160-162)gaafs	p.E54fs	DYNC1I2_ENST00000409197.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000534253.2_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000409453.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000410079.3_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000358002.6_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000340296.4_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000409773.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000409317.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000263811.4_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000508530.1_Frame_Shift_Del_p.E54fs	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	54					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)	p.R57fs*13(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TCAGATCTTGAAAAAAAAAGG	0.353																																						ENST00000534253.2																			1	Deletion - Frameshift(1)	p.R57fs*13(1)	large_intestine(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15						c.(160-162)gafs		dynein, cytoplasmic 1, intermediate chain 2				31,25,3492		1,0,29,4,17,1723	43.0	42.0	42.0			5.7	1.0	2		43	56,78,7706		0,0,56,13,52,3799	no	codingComplex	DYNC1I2	NM_001378.1		1,0,85,17,69,5522	A1A1,A1A2,A1R,A2A2,A2R,RR		1.7092,1.5784,1.6684			172549339	87,103,11198	1838	4091	5929	SO:0001589	frameshift_variant	1781				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity	g.chr2:172549339delA	AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.161delA	2.37:g.172549339delA	ENSP00000380308:p.Glu54fs					DYNC1I2_ENST00000508530.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000409197.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000409773.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000409453.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000409317.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000397119.3_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000358002.6_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000340296.4_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000263811.4_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000410079.3_Frame_Shift_Del_p.E54fs	p.E54fs			Q13409	DC1I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.198)		3	329	+			54					B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Frame_Shift_Del	DEL	ENST00000397119.3	37	c.161delA	CCDS46450.1																																																																																				0.353	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378		8	31						8	31	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179486344	179486346	+	In_Frame_Del	DEL	CTC	CTC	-	rs114331773	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:179486344_179486346delCTC	ENST00000591111.1	-	195	40506_40508	c.40282_40284delGAG	c.(40282-40284)gagdel	p.E13428del	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.E12501del|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_In_Frame_Del_p.E15069del|TTN_ENST00000359218.5_In_Frame_Del_p.E6129del|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_In_Frame_Del_p.E6196del|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_In_Frame_Del_p.E6004del|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13428	Ig-like 90.		E -> V. {ECO:0000269|PubMed:17344846}.		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)			TTTCAATGATCTCCTCATCCCCT	0.424																																						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.(45205-45207)del		titin																																				SO:0001651	inframe_deletion	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179486344_179486346delCTC	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.40282_40284delGAG	2.37:g.179486347_179486349delCTC	ENSP00000465570:p.Glu13428del					TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_In_Frame_Del_p.E6196del|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_In_Frame_Del_p.E6129del|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.E12501del|TTN_ENST00000591111.1_In_Frame_Del_p.E13428del|TTN_ENST00000460472.2_In_Frame_Del_p.E6004del	p.E15069del	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)		245	45429_45431	-			13428			Fibronectin type-III 9.		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	In_Frame_Del	DEL	ENST00000591111.1	37	c.45205_45207delGAG																																																																																					0.424	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	84						20	84	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521085	187521085	+	Frame_Shift_Del	DEL	G	G	-	rs567294324		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:187521085delG	ENST00000261023.3	+	17	1950	c.1676delG	c.(1675-1677)aggfs	p.R559fs	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Frame_Shift_Del_p.R513fs|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.R523fs	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ACTATTTCAAGGGGGGGACTG	0.428																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1675-1677)agfs		integrin, alpha V							249.0	235.0	239.0					2																	187521085		2203	4300	6503	SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521085delG		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1676delG	2.37:g.187521085delG	ENSP00000261023:p.Arg559fs					AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.R523fs|ITGAV_ENST00000433736.2_Frame_Shift_Del_p.R513fs	p.R559fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	17	1950	+			559					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Del	DEL	ENST00000261023.3	37	c.1676delG	CCDS2292.1																																																																																				0.428	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		63	207						63	207	---	---	---	---
BZW1	9689	broad.mit.edu	37	2	201683504	201683505	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:201683504_201683505insA	ENST00000409600.1	+	9	1301_1302	c.846_847insA	c.(847-849)aaafs	p.K283fs	BZW1_ENST00000452790.2_Frame_Shift_Ins_p.K315fs|BZW1_ENST00000409226.1_Frame_Shift_Ins_p.K287fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	283	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						AGGAGGAGATGAAAAAAAACAA	0.371																																						ENST00000409600.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(844-849)ataaaafs		basic leucine zipper and W2 domains 1			,,,	2,3514		0,2,1756					,,,	5.6	1.0			76	2,7816		0,2,3907	no	frameshift,frameshift,frameshift,frameshift	BZW1	NM_014670.3,NM_001207069.1,NM_001207068.1,NM_001207067.1	,,,	0,4,5663	A1A1,A1R,RR		0.0256,0.0569,0.0353	,,,	,,,		4,11330				SO:0001589	frameshift_variant	9689				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding	g.chr2:201683504_201683505insA	D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.854dupA	2.37:g.201683512_201683512dupA	ENSP00000386474:p.Lys283fs					BZW1_ENST00000452790.2_Frame_Shift_Ins_p.IK314fs|BZW1_ENST00000409226.1_Frame_Shift_Ins_p.IK286fs	p.IK282fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN			9	1301_1302	+			282			W2.		B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Frame_Shift_Ins	INS	ENST00000409600.1	37	c.846_847insA	CCDS56156.1																																																																																				0.371	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1	NM_014670		15	57						15	57	---	---	---	---
CASP8	841	broad.mit.edu	37	2	202151254	202151254	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:202151254delG	ENST00000432109.2	+	10	1566	c.1377delG	c.(1375-1377)atgfs	p.M459fs	CASP8_ENST00000323492.7_Frame_Shift_Del_p.M444fs|CASP8_ENST00000358485.4_Frame_Shift_Del_p.M518fs|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Frame_Shift_Del_p.M375fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.M476fs|CASP8_ENST00000392266.3_3'UTR	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	459					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.K520fs*19(1)|p.K478fs*19(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGAAAAACATGGGGAAACAGA	0.358										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			2	Insertion - Frameshift(2)	p.K520fs*19(1)|p.K478fs*19(1)	large_intestine(2)	breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1552-1554)atfs		caspase 8, apoptosis-related cysteine peptidase							197.0	177.0	184.0					2																	202151254		2203	4300	6503	SO:0001589	frameshift_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202151254delG	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1377delG	2.37:g.202151254delG	ENSP00000412523:p.Met459fs	HNSCC(4;0.00038)				CASP8_ENST00000323492.7_Frame_Shift_Del_p.M444fs|CASP8_ENST00000432109.2_Frame_Shift_Del_p.M459fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.M476fs|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Frame_Shift_Del_p.M375fs	p.M518fs	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			9	1750	+			459					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Frame_Shift_Del	DEL	ENST00000432109.2	37	c.1554delG	CCDS2342.1																																																																																				0.358	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		13	89						13	89	---	---	---	---
TRAK2	66008	broad.mit.edu	37	2	202264170	202264171	+	Frame_Shift_Del	DEL	AA	AA	-	rs200602995		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:202264170_202264171delAA	ENST00000332624.3	-	5	837_838	c.409_410delTT	c.(409-411)ttafs	p.L137fs	TRAK2_ENST00000430254.1_Frame_Shift_Del_p.L137fs	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	137	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GTTCCGCTTTAAGAGAGCTTGT	0.426																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(409-411)afs		trafficking protein, kinesin binding 2																																				SO:0001589	frameshift_variant	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202264170_202264171delAA	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.409_410delTT	2.37:g.202264170_202264171delAA	ENSP00000328875:p.Leu137fs					TRAK2_ENST00000430254.1_Frame_Shift_Del_p.L137fs	p.L137fs	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			5	837_838	-			137					E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Frame_Shift_Del	DEL	ENST00000332624.3	37	c.409_410delTT	CCDS2347.1																																																																																				0.426	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		33	75						33	75	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218696257	218696258	+	Frame_Shift_Ins	INS	-	-	G	rs545831386		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:218696257_218696258insG	ENST00000171887.4	-	20	3370_3371	c.2918_2919insC	c.(2917-2919)ccgfs	p.P973fs	TNS1_ENST00000419504.1_Frame_Shift_Ins_p.P973fs|TNS1_ENST00000430930.1_Frame_Shift_Ins_p.P973fs	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	973					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGGCCAGACCCGGGGGGGACCG	0.634																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(2917-2919)cggfs		tensin 1																																				SO:0001589	frameshift_variant	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218696257_218696258insG	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2919dupC	2.37:g.218696264_218696264dupG	ENSP00000171887:p.Pro973fs					TNS1_ENST00000430930.1_Frame_Shift_Ins_p.R973fs|TNS1_ENST00000419504.1_Frame_Shift_Ins_p.R973fs	p.R973fs	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	20	3370_3371	-		Renal(207;0.0483)|Lung NSC(271;0.213)	973					Q4ZG71|Q6IPI5	Frame_Shift_Ins	INS	ENST00000171887.4	37	c.2918_2919insC	CCDS2407.1																																																																																				0.634	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		8	22						8	22	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220315987	220315988	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:220315987_220315988insC	ENST00000312358.7	+	5	2375_2376	c.2243_2244insC	c.(2242-2247)aaccccfs	p.NP748fs	SPEG_ENST00000396698.1_Frame_Shift_Ins_p.NP644fs|SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	748	Ig-like 2.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ATCACTGCCAACCCCCCGCCCC	0.629																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(2242-2244)accfs		SPEG complex locus																																				SO:0001589	frameshift_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220315987_220315988insC	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2249dupC	2.37:g.220315993_220315993dupC	ENSP00000311684:p.Asn748fs					SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Frame_Shift_Ins_p.T644fs|SPEG_ENST00000485813.1_3'UTR	p.T748fs	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	5	2375_2376	+		Renal(207;0.0183)	748			Ig-like 2.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Frame_Shift_Ins	INS	ENST00000312358.7	37	c.2243_2244insC	CCDS42824.1																																																																																				0.629	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		26	101						26	101	---	---	---	---
DIS3L2	129563	broad.mit.edu	37	2	233194612	233194613	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:233194612_233194613insC	ENST00000409307.1	+	14	1829_1830	c.1829_1830insC	c.(1828-1833)caccccfs	p.HP610fs	DIS3L2_ENST00000325385.7_Frame_Shift_Ins_p.HP610fs|DIS3L2_ENST00000273009.6_Intron					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CTGCGCCGGCACCCCCCGCCCC	0.644																																						ENST00000325385.7																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40						c.(1828-1830)cccfs		DIS3 mitotic control homolog (S. cerevisiae)-like 2																																				SO:0001589	frameshift_variant	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233194612_233194613insC	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1835dupC	2.37:g.233194618_233194618dupC	ENSP00000386799:p.His610fs					DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Frame_Shift_Ins_p.P610fs	p.P610fs	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	15	2105_2106	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	610						Frame_Shift_Ins	INS	ENST00000409307.1	37	c.1829_1830insC	CCDS42834.1																																																																																				0.644	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		12	52						12	52	---	---	---	---
ARL4C	10123	broad.mit.edu	37	2	235404658	235404660	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:235404658_235404660delCTT	ENST00000390645.2	-	1	1037_1039	c.571_573delAAG	c.(571-573)aagdel	p.K191del	ARL4C_ENST00000339728.3_In_Frame_Del_p.K191del	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	191					endocytic recycling (GO:0032456)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		CGCATTACCGCTTCTTCTTCTGC	0.581																																					Esophageal Squamous(157;1837 2534 13028 22831)	ENST00000390645.2																			0				endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4						c.(571-573)del		ADP-ribosylation factor-like 4C																																				SO:0001651	inframe_deletion	10123				endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity	g.chr2:235404658_235404660delCTT	AB016811	CCDS2512.1, CCDS63169.1	2q37.2	2014-05-09	2005-11-03	2005-11-03	ENSG00000188042	ENSG00000188042		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	698	protein-coding gene	gene with protein product		604787	"""ADP-ribosylation factor-like 7"""	ARL7			Standard	NM_005737		Approved	LAK	uc002vvn.3	P56559	OTTHUMG00000133291	ENST00000390645.2:c.571_573delAAG	2.37:g.235404664_235404666delCTT	ENSP00000375057:p.Lys191del					ARL4C_ENST00000339728.3_In_Frame_Del_p.K191del	p.K191del	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)	1	1037_1039	-		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)	191					Q4A519|Q53R10|Q9BVN1|Q9UQ34	In_Frame_Del	DEL	ENST00000390645.2	37	c.571_573delAAG	CCDS2512.1																																																																																				0.581	ARL4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257073.1			16	64						16	64	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cacfs	p.H202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.H242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.H202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		AATCACCAGGTGGGGGGGCAGG	0.535																																						ENST00000252711.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16						c.(604-606)cctfs		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	NADH(DB00157)																																			SO:0001589	frameshift_variant	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240954220_240954221insG	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.605dupC	2.37:g.240954227_240954227dupG	ENSP00000252711:p.His202fs					NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs	p.P202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	5	704_705	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	202					Q8WXC9	Frame_Shift_Ins	INS	ENST00000252711.2	37	c.604_605insC	CCDS2531.1																																																																																				0.535	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544		23	137						23	137	---	---	---	---
ING5	84289	broad.mit.edu	37	2	242650899	242650899	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr2:242650899delA	ENST00000313552.6	+	4	410	c.384delA	c.(382-384)ttafs	p.L128fs	ING5_ENST00000406941.1_Frame_Shift_Del_p.L128fs|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	128					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GGCGAGGGTTAAAAAGCAAGT	0.398																																						ENST00000313552.6																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(382-384)ttfs		inhibitor of growth family, member 5							102.0	117.0	112.0					2																	242650899		2203	4295	6498	SO:0001589	frameshift_variant	84289				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr2:242650899delA	AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"""Zinc fingers, PHD-type"""	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.384delA	2.37:g.242650899delA	ENSP00000322142:p.Leu128fs					ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Frame_Shift_Del_p.L128fs	p.L128fs	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	4	410	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	128					A8K1P3|Q53NU6|Q57Z54|Q9BS30	Frame_Shift_Del	DEL	ENST00000313552.6	37	c.384delA	CCDS33425.1																																																																																				0.398	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322901.3	NM_032329		27	99						27	99	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9034600	9034600	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:9034600delC	ENST00000383836.3	-	20	2975	c.2548delG	c.(2548-2550)gtgfs	p.V850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Del_p.V826fs	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGGCCCATCACCCCCCCAAAG	0.557			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2548-2550)tgfs		SLIT-ROBO Rho GTPase activating protein 3							85.0	81.0	82.0					3																	9034600		2203	4300	6503	SO:0001589	frameshift_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9034600delC	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2548delG	3.37:g.9034600delC	ENSP00000373347:p.Val850fs					SRGAP3_ENST00000360413.3_Frame_Shift_Del_p.V826fs	p.V850fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	20	2975	-			850					Q8IX13|Q8IZV8	Frame_Shift_Del	DEL	ENST00000383836.3	37	c.2548delG	CCDS2572.1																																																																																				0.557	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			7	167						7	167	---	---	---	---
LRRC2	79442	broad.mit.edu	37	3	46580564	46580564	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:46580564delT	ENST00000395905.3	-	4	853	c.461delA	c.(460-462)aacfs	p.N154fs	LRRC2_ENST00000296144.3_Frame_Shift_Del_p.N154fs	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	154										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TGAGATTTGGTTTTTTGGCAG	0.438																																						ENST00000395905.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(460-462)acfs		leucine rich repeat containing 2							148.0	133.0	138.0					3																	46580564		2203	4300	6503	SO:0001589	frameshift_variant	79442							g.chr3:46580564delT	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.461delA	3.37:g.46580564delT	ENSP00000379241:p.Asn154fs					LRRC2_ENST00000296144.3_Frame_Shift_Del_p.N154fs	p.N154fs	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	4	853	-		Ovarian(412;0.0563)	154					B2RDQ7|Q96LT5	Frame_Shift_Del	DEL	ENST00000395905.3	37	c.461delA	CCDS2741.1																																																																																				0.438	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			19	72						19	72	---	---	---	---
C3orf62	375341	broad.mit.edu	37	3	49314249	49314251	+	In_Frame_Del	DEL	TCT	TCT	-	rs145714914	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:49314249_49314251delTCT	ENST00000343010.3	-	1	1091_1093	c.55_57delAGA	c.(55-57)agadel	p.R19del	MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	19										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCTTTCTGCATCTTCTTAGTTTT	0.468																																						ENST00000343010.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(55-57)del		chromosome 3 open reading frame 62																																				SO:0001651	inframe_deletion	375341							g.chr3:49314249_49314251delTCT	AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.55_57delAGA	3.37:g.49314252_49314254delTCT	ENSP00000341139:p.Arg19del						p.R19del	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	1091_1093	-			19					Q6P7E9|Q7Z3X6	In_Frame_Del	DEL	ENST00000343010.3	37	c.55_57delAGA	CCDS2792.1																																																																																				0.468	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1	NM_198562		18	51						18	51	---	---	---	---
APEH	327	broad.mit.edu	37	3	49719325	49719325	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:49719325delC	ENST00000296456.5	+	17	1928	c.1528delC	c.(1528-1530)cccfs	p.P510fs	APEH_ENST00000438011.1_Frame_Shift_Del_p.P510fs|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	510					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGCAGGGGGGCCCCATTCATC	0.602																																						ENST00000296456.5																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(1528-1530)ccfs		acylaminoacyl-peptide hydrolase							127.0	122.0	124.0					3																	49719325		2203	4300	6503	SO:0001589	frameshift_variant	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49719325delC	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.1528delC	3.37:g.49719325delC	ENSP00000296456:p.Pro510fs					APEH_ENST00000438011.1_Frame_Shift_Del_p.P510fs	p.P510fs	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	17	1928	+			510					Q9BQ33|Q9P0Y2	Frame_Shift_Del	DEL	ENST00000296456.5	37	c.1528delC	CCDS2801.1																																																																																				0.602	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			43	170						43	170	---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50005145	50005145	+	Frame_Shift_Del	DEL	G	G	-	rs141234052	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:50005145delG	ENST00000266022.4	+	3	546	c.287delG	c.(286-288)aggfs	p.R96fs	RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000539992.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	96					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CATGATTTCAGGGGGGGAGAT	0.493																																						ENST00000266022.4																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(286-288)agfs		RNA binding motif protein 6							80.0	88.0	85.0					3																	50005145		2203	4300	6503	SO:0001589	frameshift_variant	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50005145delG	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.287delG	3.37:g.50005145delG	ENSP00000266022:p.Arg96fs					RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron	p.R96fs	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	546	+			96					O60549|O75524|Q86SS3	Frame_Shift_Del	DEL	ENST00000266022.4	37	c.287delG	CCDS2809.1																																																																																				0.493	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		52	151						52	151	---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51417604	51417604	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:51417604delC	ENST00000266037.9	+	52	5572	c.5549delC	c.(5548-5550)accfs	p.T1850fs		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1850					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.P1852fs*45(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTGGGTGATACCCCCCCAGCC	0.597																																						ENST00000266037.9																			1	Deletion - Frameshift(1)	p.P1852fs*45(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5548-5550)acfs		dedicator of cytokinesis 3							83.0	84.0	84.0					3																	51417604		1912	4118	6030	SO:0001589	frameshift_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51417604delC	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5549delC	3.37:g.51417604delC	ENSP00000266037:p.Thr1850fs						p.T1850fs	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	52	5572	+			1850					O15017	Frame_Shift_Del	DEL	ENST00000266037.9	37	c.5549delC	CCDS46835.1																																																																																				0.597	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		22	81						22	81	---	---	---	---
GRM2	2912	broad.mit.edu	37	3	51743196	51743196	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:51743196delT	ENST00000395052.3	+	2	431	c.197delT	c.(196-198)cttfs	p.L66fs	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Frame_Shift_Del_p.L66fs	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	66					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGGCCATGCTTTTTGCACTG	0.637																																						ENST00000395052.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(196-198)ctfs		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						115.0	107.0	109.0					3																	51743196		2203	4300	6503	SO:0001589	frameshift_variant	2912				synaptic transmission	integral to plasma membrane		g.chr3:51743196delT	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.197delT	3.37:g.51743196delT	ENSP00000378492:p.Leu66fs					GRM2_ENST00000442933.2_Frame_Shift_Del_p.L66fs|GRM2_ENST00000475478.1_Intron	p.L66fs	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	431	+			66					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Frame_Shift_Del	DEL	ENST00000395052.3	37	c.197delT	CCDS2834.1																																																																																				0.637	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			49	145						49	145	---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52547908	52547908	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:52547908delC	ENST00000321725.6	+	32	3434	c.3358delC	c.(3358-3360)cccfs	p.P1121fs		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1121					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.R1122fs*37(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGTCTTACTGCCCCCCCGAGG	0.622																																						ENST00000321725.6																			1	Insertion - Frameshift(1)	p.R1122fs*37(1)	large_intestine(1)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(3358-3360)ccfs		stabilin 1							163.0	159.0	160.0					3																	52547908		2203	4300	6503	SO:0001589	frameshift_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52547908delC	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3358delC	3.37:g.52547908delC	ENSP00000312946:p.Pro1121fs						p.P1121fs	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	32	3434	+			1121					A7E297|Q8IUH0|Q8IUH1|Q93072	Frame_Shift_Del	DEL	ENST00000321725.6	37	c.3358delC	CCDS33768.1																																																																																				0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		78	257						78	257	---	---	---	---
IL17RB	55540	broad.mit.edu	37	3	53889347	53889347	+	Frame_Shift_Del	DEL	A	A	-	rs527321039		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:53889347delA	ENST00000288167.3	+	6	517	c.508delA	c.(508-510)aaafs	p.K172fs		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	172					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AATGAAATATAAAAAAAAGTG	0.383																																						ENST00000288167.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13						c.(508-510)aafs		interleukin 17 receptor B							42.0	43.0	42.0					3																	53889347		2203	4300	6503	SO:0001589	frameshift_variant	55540				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr3:53889347delA	AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.508delA	3.37:g.53889347delA	ENSP00000288167:p.Lys172fs						p.K172fs	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	6	517	+			172					Q9BPZ0|Q9NRL4|Q9NRM5	Frame_Shift_Del	DEL	ENST00000288167.3	37	c.508delA	CCDS2874.1																																																																																				0.383	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1	NM_172234		7	21						7	21	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64633651	64633652	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:64633651_64633652delGT	ENST00000498707.1	-	11	2016_2017	c.1674_1675delAC	c.(1672-1677)acacccfs	p.P559fs	ADAMTS9_ENST00000295903.4_Frame_Shift_Del_p.P531fs	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	559	Disintegrin.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCGGCCCAGGGTGTGTGCTGAG	0.51																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(1672-1677)acccfs		ADAM metallopeptidase with thrombospondin type 1 motif, 9																																				SO:0001589	frameshift_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64633651_64633652delGT	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.1674_1675delAC	3.37:g.64633655_64633656delGT	ENSP00000418735:p.Pro559fs					ADAMTS9_ENST00000295903.4_Frame_Shift_Del_p.TP530fs	p.TP558fs	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	11	2016_2017	-		Lung NSC(201;0.00682)	558			Disintegrin.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Frame_Shift_Del	DEL	ENST00000498707.1	37	c.1674_1675delAC	CCDS2903.1																																																																																				0.510	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			47	163						47	163	---	---	---	---
OR5H15	403274	broad.mit.edu	37	3	97887844	97887844	+	Frame_Shift_Del	DEL	T	T	-	rs377659479	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:97887844delT	ENST00000356526.2	+	1	301	c.301delT	c.(301-303)tttfs	p.F102fs		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CAAGATACAATTTTTTTCCAT	0.383													TTTTTTT|TTTTTTT|TTTTTT|deletion	158	0.0315495	0.0091	0.0231	5008	,	,		23747	0.0238		0.0268	False		,,,				2504	0.0808					ENST00000356526.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						c.(301-303)ttfs		olfactory receptor, family 5, subfamily H, member 15				46,4218		0,46,2086	158.0	149.0	152.0			-5.0	0.0	3		155	152,8098		3,146,3976	no	frameshift	OR5H15	NM_001005515.1		3,192,6062	A1A1,A1R,RR		1.8424,1.0788,1.5822			97887844	198,12316	2203	4298	6501	SO:0001589	frameshift_variant	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887844delT		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.301delT	3.37:g.97887844delT	ENSP00000373195:p.Phe102fs						p.F102fs	NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN			1	301	+			102						Frame_Shift_Del	DEL	ENST00000356526.2	37	c.301delT	CCDS33799.1																																																																																				0.383	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			8	232						8	232	---	---	---	---
OR5H6	79295	broad.mit.edu	37	3	97983477	97983477	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:97983477delT	ENST00000383696.2	+	1	390	c.349delT	c.(349-351)tttfs	p.F118fs	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CATGGTACAATTTTTTTCCCT	0.393																																						ENST00000383696.2																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(349-351)ttfs		olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)							110.0	98.0	102.0					3																	97983477		2203	4299	6502	SO:0001589	frameshift_variant	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983477delT	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.349delT	3.37:g.97983477delT	ENSP00000373196:p.Phe118fs					RP11-325B23.2_ENST00000508616.1_lincRNA	p.F118fs	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN			1	390	+			118					Q6IF88	Frame_Shift_Del	DEL	ENST00000383696.2	37	c.349delT	CCDS33800.1																																																																																				0.393	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			52	162						52	162	---	---	---	---
CD96	10225	broad.mit.edu	37	3	111197863	111197868	+	lincRNA	DEL	CACACA	CACACA	-	rs61579002|rs398051454|rs7650195	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544																																						ENST00000497896.1																			0																																																			10225							g.chr3:111197863_111197868delCACACA																													3.37:g.111197869_111197874delCACACA														0	208	-									RNA	DEL	ENST00000497896.1	37																																																																																						0.544	RP11-615J4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000354056.1			3	5						3	5	---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:114058003delG	ENST00000474710.1	-	5	2253	c.2075delC	c.(2074-2076)cctfs	p.P692fs	ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000462705.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P619fs	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	692						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			1	Deletion - Frameshift(1)	p.P619fs*43(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1855-1857)ctfs		zinc finger and BTB domain containing 20							56.0	55.0	55.0					3																	114058003		2203	4300	6503	SO:0001589	frameshift_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114058003delG	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2075delC	3.37:g.114058003delG	ENSP00000419153:p.Pro692fs					ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.P692fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P619fs	p.P619fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2677	-			692					Q63HP6|Q8N6R5|Q9Y410	Frame_Shift_Del	DEL	ENST00000474710.1	37	c.1856delC	CCDS54626.1																																																																																				0.632	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		28	95						28	95	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130318620	130318621	+	Frame_Shift_Ins	INS	-	-	C	rs112135798	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:130318620_130318621insC	ENST00000358511.6	+	19	4650_4651	c.4619_4620insC	c.(4618-4623)ggccccfs	p.GP1540fs	COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.GP1540fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1540	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGCTGGCCAGGCCCCCCCGGGA	0.5																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(4618-4620)gccfs		collagen, type VI, alpha 6																																				SO:0001589	frameshift_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130318620_130318621insC	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4626dupC	3.37:g.130318627_130318627dupC	ENSP00000351310:p.Gly1540fs					COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.A1540fs	p.A1540fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			19	4650_4651	+			1540			Triple-helical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Frame_Shift_Ins	INS	ENST00000358511.6	37	c.4619_4620insC	CCDS46911.1																																																																																				0.500	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		13	45						13	45	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132209834	132209834	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:132209834delT	ENST00000260818.6	+	32	3810	c.3562delT	c.(3562-3564)tttfs	p.F1188fs		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1188					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ACCTGAAAAGTTTTCTGAGAT	0.323																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(3562-3564)ttfs		DnaJ (Hsp40) homolog, subfamily C, member 13							40.0	46.0	44.0					3																	132209834		2200	4296	6496	SO:0001589	frameshift_variant	23317						heat shock protein binding	g.chr3:132209834delT	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3562delT	3.37:g.132209834delT	ENSP00000260818:p.Phe1188fs						p.F1188fs	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			32	3810	+			1188					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Frame_Shift_Del	DEL	ENST00000260818.6	37	c.3562delT	CCDS33857.1																																																																																				0.323	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		12	52						12	52	---	---	---	---
PBX2P1	5088	broad.mit.edu	37	3	142895155	142895155	+	RNA	DEL	C	C	-	rs373179673	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:142895155delC	ENST00000560287.1	+	0	29									pre-B-cell leukemia homeobox 2 pseudogene 1																		GGCCTCAGGGCCCCCCCCCAG	0.746													|||unknown(ALL_OTHER_Ns)	2344	0.468051	0.7186	0.3357	5008	,	,		7117	0.2887		0.4036	False		,,,				2504	0.4744					ENST00000560287.1																			0																																																			5088							g.chr3:142895155delC			3q24	2014-03-25	2007-01-30	2007-01-30	ENSG00000244171	ENSG00000244171		"""Homeoboxes / TALE class"""	8635	pseudogene	pseudogene			"""pre-B-cell leukemia transcription factor pseudogene 1"""	PBX2, PBXP1		1682799	Standard	NG_002434		Approved				OTTHUMG00000159350		3.37:g.142895155delC														0	29	+									RNA	DEL	ENST00000560287.1	37																																																																																						0.746	PBX2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417717.1	NG_002434		4	7						4	7	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155199125	155199125	+	Frame_Shift_Del	DEL	G	G	-	rs374951144		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:155199125delG	ENST00000340059.7	-	23	4713	c.4714delC	c.(4714-4716)cggfs	p.R1572fs	PLCH1_ENST00000414191.1_Frame_Shift_Del_p.R1534fs|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Frame_Shift_Del_p.R1534fs|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Frame_Shift_Del_p.R1534fs	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1572					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACCAGTGCCCGGGGGAGCTGA	0.512																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4600-4602)ggfs		phospholipase C, eta 1							90.0	93.0	92.0					3																	155199125		2203	4300	6503	SO:0001589	frameshift_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199125delG	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4714delC	3.37:g.155199125delG	ENSP00000345988:p.Arg1572fs					PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Frame_Shift_Del_p.R1534fs|PLCH1_ENST00000340059.7_Frame_Shift_Del_p.R1572fs|PLCH1_ENST00000334686.6_Frame_Shift_Del_p.R1534fs|PLCH1_ENST00000494598.1_Intron	p.R1534fs			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4957	-			1572					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Frame_Shift_Del	DEL	ENST00000340059.7	37	c.4600delC	CCDS46939.1																																																																																				0.512	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		20	92						20	92	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173525572	173525573	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:173525572_173525573insT	ENST00000457714.1	+	4	1025_1026	c.596_597insT	c.(595-600)agttatfs	p.Y200fs	NLGN1_ENST00000401917.3_Frame_Shift_Ins_p.Y240fs|NLGN1_ENST00000361589.4_Frame_Shift_Ins_p.Y200fs|NLGN1_ENST00000545397.1_Frame_Shift_Ins_p.Y200fs	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	217					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTCTTGGCAAGTTATGGCAATG	0.426																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(595-597)atafs		neuroligin 1																																				SO:0001589	frameshift_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173525572_173525573insT	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.598dupT	3.37:g.173525574_173525574dupT	ENSP00000392500:p.Tyr200fs					NLGN1_ENST00000401917.3_Frame_Shift_Ins_p.I239fs|NLGN1_ENST00000545397.1_Frame_Shift_Ins_p.I199fs|NLGN1_ENST00000361589.4_Frame_Shift_Ins_p.I199fs	p.I199fs	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		4	1025_1026	+	Ovarian(172;0.0025)		216					Q9UPT2	Frame_Shift_Ins	INS	ENST00000457714.1	37	c.596_597insT	CCDS3222.1																																																																																				0.426	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		19	91						19	91	---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183521949	183521949	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:183521949delG	ENST00000305135.5	+	27	3952	c.3757delG	c.(3757-3759)gtgfs	p.V1253fs	YEATS2-AS1_ENST00000425008.3_RNA|AC131160.1_ENST00000401347.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1253					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.V1253M(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CATCGAGGACGTGCTGACCCA	0.612																																						ENST00000305135.5																			1	Substitution - Missense(1)	p.V1253M(1)	skin(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(3757-3759)tgfs		YEATS domain containing 2							82.0	83.0	83.0					3																	183521949		2108	4232	6340	SO:0001589	frameshift_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183521949delG	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3757delG	3.37:g.183521949delG	ENSP00000306983:p.Val1253fs						p.V1253fs	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		27	3952	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1253					A7E2B9|D3DNS9|Q641P6|Q9NW96	Frame_Shift_Del	DEL	ENST00000305135.5	37	c.3757delG	CCDS43175.1																																																																																				0.612	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		42	147						42	147	---	---	---	---
CPN2	1370	broad.mit.edu	37	3	194062731	194062731	+	Frame_Shift_Del	DEL	G	G	-	rs199990965		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:194062731delG	ENST00000323830.3	-	2	790	c.701delC	c.(700-702)cctfs	p.P234fs	CPN2_ENST00000429275.1_Frame_Shift_Del_p.P234fs	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	234					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GAACACCTGAGGGGGCAGCTC	0.602																																						ENST00000323830.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27						c.(700-702)ctfs		carboxypeptidase N, polypeptide 2							43.0	47.0	45.0					3																	194062731		2203	4300	6503	SO:0001589	frameshift_variant	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062731delG	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.701delC	3.37:g.194062731delG	ENSP00000319464:p.Pro234fs					CPN2_ENST00000429275.1_Frame_Shift_Del_p.P234fs	p.P234fs	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	790	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		234					B2RPE7|Q86SU4|Q8N5V4	Frame_Shift_Del	DEL	ENST00000323830.3	37	c.701delC	CCDS33920.1																																																																																				0.602	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		16	56						16	56	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195397934	195397934	+	lincRNA	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:195397934delA	ENST00000445430.1	+	0	919									long intergenic non-protein coding RNA 969																		AATATCTTGTAAAAAAAAGTA	0.343																																						ENST00000445430.1																			0																																																			440993							g.chr3:195397934delA	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.195397934delA														0	919	+									RNA	DEL	ENST00000445430.1	37																																																																																						0.343	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			11	37						11	37	---	---	---	---
TFRC	7037	broad.mit.edu	37	3	195796404	195796404	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:195796404delT	ENST00000360110.4	-	7	892	c.723delA	c.(721-723)aaafs	p.K241fs	TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000392396.3_Frame_Shift_Del_p.K241fs|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000420415.1_Frame_Shift_Del_p.K160fs	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	241	PA.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	CCTCAAAATCTTTTTTAGTAC	0.343			T	BCL6	NHL																																	ENST00000360110.4				Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(721-723)aafs		transferrin receptor							61.0	64.0	63.0					3																	195796404		2203	4299	6502	SO:0001589	frameshift_variant	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195796404delT	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.723delA	3.37:g.195796404delT	ENSP00000353224:p.Lys241fs					TFRC_ENST00000420415.1_Frame_Shift_Del_p.K160fs|TFRC_ENST00000392396.3_Frame_Shift_Del_p.K241fs|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR	p.K241fs	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	7	892	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		241			PA.		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Frame_Shift_Del	DEL	ENST00000360110.4	37	c.723delA	CCDS3312.1																																																																																				0.343	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			13	27						13	27	---	---	---	---
UBXN7	26043	broad.mit.edu	37	3	196088753	196088753	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:196088753delT	ENST00000296328.4	-	10	1344	c.1270delA	c.(1270-1272)aggfs	p.R424fs	UBXN7_ENST00000428095.1_Frame_Shift_Del_p.R262fs|UBXN7_ENST00000535858.1_Frame_Shift_Del_p.R276fs	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	424	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						ATCTGTTCCCTTTTTCCATCT	0.408																																						ENST00000296328.4																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(1270-1272)ggfs		UBX domain protein 7							147.0	132.0	137.0					3																	196088753		1876	4104	5980	SO:0001589	frameshift_variant	26043						protein binding	g.chr3:196088753delT	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.1270delA	3.37:g.196088753delT	ENSP00000296328:p.Arg424fs					UBXN7_ENST00000535858.1_Frame_Shift_Del_p.R276fs|UBXN7_ENST00000428095.1_Frame_Shift_Del_p.R262fs	p.R424fs	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN			10	1344	-			424			UBX.		D3DXB3|Q6ZP77|Q86X20|Q8N327	Frame_Shift_Del	DEL	ENST00000296328.4	37	c.1270delA	CCDS43191.1																																																																																				0.408	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		15	44						15	44	---	---	---	---
SMCO1	255798	broad.mit.edu	37	3	196234827	196234827	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:196234827delC	ENST00000397537.2	-	3	732	c.576delG	c.(574-576)gggfs	p.G192fs		NM_001077657.1	NP_001071125.1	Q147U7	SMCO1_HUMAN	single-pass membrane protein with coiled-coil domains 1	192						integral component of membrane (GO:0016021)											TAACTGCTTTCCCCTTCTCAA	0.458																																						ENST00000397537.2																			0											c.(574-576)ggfs		single-pass membrane protein with coiled-coil domains 1							109.0	103.0	105.0					3																	196234827		1943	4150	6093	SO:0001589	frameshift_variant	255798							g.chr3:196234827delC	AK123917	CCDS43192.1	3q29	2013-03-08	2013-03-08	2013-03-08	ENSG00000214097	ENSG00000214097			27407	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 43"""	C3orf43			Standard	NM_001077657		Approved	FLJ41923, DKFZp313B0440		Q147U7	OTTHUMG00000155581	ENST00000397537.2:c.576delG	3.37:g.196234827delC	ENSP00000380671:p.Gly192fs						p.G192fs	NM_001077657.1	NP_001071125.1					3	732	-								B3KW20	Frame_Shift_Del	DEL	ENST00000397537.2	37	c.576delG	CCDS43192.1																																																																																				0.458	SMCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340776.1	NM_001006109		21	41						21	41	---	---	---	---
PIGZ	80235	broad.mit.edu	37	3	196674360	196674360	+	Frame_Shift_Del	DEL	G	G	-	rs200263090		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr3:196674360delG	ENST00000412723.1	-	3	1554	c.1408delC	c.(1408-1410)cggfs	p.R470fs		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	470					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		AGGAGGTGCCGGGGGGGCATG	0.642																																						ENST00000412723.1																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14						c.(1408-1410)ggfs		phosphatidylinositol glycan anchor biosynthesis, class Z							58.0	61.0	60.0					3																	196674360		2203	4300	6503	SO:0001589	frameshift_variant	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196674360delG	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.1408delC	3.37:g.196674360delG	ENSP00000413405:p.Arg470fs						p.R470fs	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	3	1554	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		470					Q9H9G6	Frame_Shift_Del	DEL	ENST00000412723.1	37	c.1408delC	CCDS3324.1																																																																																				0.642	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		18	90						18	90	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2695394	2695394	+	Frame_Shift_Del	DEL	C	C	-	rs3208084		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:2695394delC	ENST00000324666.5	+	14	2363	c.2012delC	c.(2011-2013)gccfs	p.A671fs	FAM193A_ENST00000382839.3_Frame_Shift_Del_p.A671fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.A671fs|FAM193A_ENST00000502458.1_Frame_Shift_Del_p.A693fs|FAM193A_ENST00000545951.1_Frame_Shift_Del_p.A671fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	671								p.A671V(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ACGGGCTTGGCCCCCCTCCCA	0.627																																						ENST00000324666.5																			1	Substitution - Missense(1)	p.A671V(1)	skin(1)	NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(2011-2013)gcfs		family with sequence similarity 193, member A							76.0	88.0	84.0					4																	2695394		2203	4300	6503	SO:0001589	frameshift_variant	8603							g.chr4:2695394delC	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2012delC	4.37:g.2695394delC	ENSP00000324587:p.Ala671fs					FAM193A_ENST00000545951.1_Frame_Shift_Del_p.A671fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.A671fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.A671fs|FAM193A_ENST00000502458.1_Frame_Shift_Del_p.A693fs	p.A671fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			14	2363	+			671					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Del	DEL	ENST00000324666.5	37	c.2012delC	CCDS58875.1																																																																																				0.627	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		73	243						73	243	---	---	---	---
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815896	+	lincRNA	DEL	AA	AA	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:19815895_19815896delAA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaaa	0.411																																						ENST00000511431.1																			0																																																			0							g.chr4:19815895_19815896delAA																													4.37:g.19815905_19815906delAA														0	288	+									RNA	DEL	ENST00000511431.1	37																																																																																						0.411	RP11-608O21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359397.1			3	3						3	3	---	---	---	---
CENPC	1060	broad.mit.edu	37	4	68355753	68355753	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:68355753delA	ENST00000273853.6	-	17	2852	c.2602delT	c.(2602-2604)tctfs	p.S868fs		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	868					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										TTCCCAGTAGAAAAAAAGGGT	0.343																																						ENST00000273853.6																			0											c.(2602-2604)ctfs		centromere protein C							67.0	57.0	60.0					4																	68355753		1827	4078	5905	SO:0001589	frameshift_variant	1060							g.chr4:68355753delA	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.2602delT	4.37:g.68355753delA	ENSP00000273853:p.Ser868fs						p.S868fs	NM_001812.2	NP_001803.2					17	2852	-								Q8IW27|Q9P0M5	Frame_Shift_Del	DEL	ENST00000273853.6	37	c.2602delT	CCDS47063.1																																																																																				0.343	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			8	18						8	18	---	---	---	---
THAP6	152815	broad.mit.edu	37	4	76442067	76442067	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:76442067delA	ENST00000311638.3	+	3	234	c.166delA	c.(166-168)aaafs	p.K57fs	RCHY1_ENST00000451788.1_5'Flank|THAP6_ENST00000504190.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000514480.1_Frame_Shift_Del_p.K57fs|THAP6_ENST00000508105.1_Frame_Shift_Del_p.K16fs|RCHY1_ENST00000324439.5_5'Flank|THAP6_ENST00000380837.3_Frame_Shift_Del_p.K57fs|THAP6_ENST00000507557.1_Frame_Shift_Del_p.K16fs|RCHY1_ENST00000380840.2_5'Flank|THAP6_ENST00000502620.1_Frame_Shift_Del_p.K16fs|RCHY1_ENST00000512706.1_5'Flank|THAP6_ENST00000507556.1_Frame_Shift_Del_p.K57fs|THAP6_ENST00000507885.1_Frame_Shift_Del_p.K16fs|RCHY1_ENST00000514021.1_5'Flank|RCHY1_ENST00000513257.1_5'Flank	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	57						microtubule cytoskeleton (GO:0015630)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTGGGAGCCTAAAAAAGGAGA	0.378																																						ENST00000311638.3																			0				lung(5)	5						c.(166-168)aafs		THAP domain containing 6							131.0	132.0	131.0					4																	76442067		2203	4300	6503	SO:0001589	frameshift_variant	152815					microtubule cytoskeleton	DNA binding|metal ion binding	g.chr4:76442067delA	BC022989	CCDS3568.1	4q21.21	2013-01-25			ENSG00000174796	ENSG00000174796		"""THAP (C2CH-type zinc finger) domain containing"""	23189	protein-coding gene	gene with protein product		612535				12575992	Standard	NM_144721		Approved	MGC30052	uc003him.3	Q8TBB0	OTTHUMG00000130108	ENST00000311638.3:c.166delA	4.37:g.76442067delA	ENSP00000309007:p.Lys57fs					THAP6_ENST00000502620.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000508105.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000507557.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000504190.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000507556.1_Frame_Shift_Del_p.K57fs|THAP6_ENST00000507885.1_Frame_Shift_Del_p.K16fs|THAP6_ENST00000380837.3_Frame_Shift_Del_p.K57fs|THAP6_ENST00000514480.1_Frame_Shift_Del_p.K57fs	p.K57fs	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		3	234	+			57					B4E146|Q5HYJ7|Q5JPC6	Frame_Shift_Del	DEL	ENST00000311638.3	37	c.166delA	CCDS3568.1																																																																																				0.378	THAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252414.1	NM_144721		9	121						9	121	---	---	---	---
SCD5	79966	broad.mit.edu	37	4	83719663	83719664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:83719663_83719664insC	ENST00000319540.4	-	1	346_347	c.27_28insG	c.(25-30)gggaagfs	p.K10fs	SCD5_ENST00000282709.4_Frame_Shift_Ins_p.K10fs|SCD5_ENST00000273908.4_Frame_Shift_Ins_p.K10fs	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	10					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				AAAGGGATCTTCCCCGCGTCGG	0.752																																						ENST00000319540.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13						c.(25-30)ggagatfs		stearoyl-CoA desaturase 5																																				SO:0001589	frameshift_variant	79966				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr4:83719663_83719664insC	AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.28dupG	4.37:g.83719667_83719667dupC	ENSP00000316329:p.Lys10fs					SCD5_ENST00000273908.4_Frame_Shift_Ins_p.D10fs|SCD5_ENST00000282709.4_Frame_Shift_Ins_p.D10fs	p.D10fs	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN			1	346_347	-		Colorectal(4;0.0323)|Hepatocellular(203;0.115)	10					B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Frame_Shift_Ins	INS	ENST00000319540.4	37	c.27_28insG	CCDS34024.1																																																																																				0.752	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		7	19						7	19	---	---	---	---
LARP7	51574	broad.mit.edu	37	4	113570754	113570754	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:113570754delA	ENST00000344442.5	+	9	1484	c.1206delA	c.(1204-1206)ttafs	p.L402fs	MIR302A_ENST00000385192.1_RNA|MIR367_ENST00000362299.1_RNA|LARP7_ENST00000324052.6_Frame_Shift_Del_p.L402fs|MIR302C_ENST00000362232.1_RNA|LARP7_ENST00000509061.1_Frame_Shift_Del_p.L409fs|MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000510655.1_RNA|MIR302D_ENST00000362275.1_RNA|MIR302B_ENST00000362188.1_RNA|MIR302B_ENST00000509938.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	402					RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T405fs*5(2)		endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TGGCTTCTTTAAAAAAAACAA	0.333																																						ENST00000509061.1																			2	Deletion - Frameshift(2)	p.T405fs*5(2)	large_intestine(1)|lung(1)	endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17						c.(1225-1227)ttfs		La ribonucleoprotein domain family, member 7							46.0	45.0	45.0					4																	113570754		2202	4298	6500	SO:0001589	frameshift_variant	51574				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr4:113570754delA	AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.1206delA	4.37:g.113570754delA	ENSP00000344950:p.Leu402fs					MIR302B_ENST00000510655.1_RNA|LARP7_ENST00000324052.6_Frame_Shift_Del_p.L402fs|LARP7_ENST00000344442.5_Frame_Shift_Del_p.L402fs	p.L409fs	NM_001267039.1	NP_001253968.1	Q4G0J3	LARP7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	11	1530	+		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	402					B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Frame_Shift_Del	DEL	ENST00000344442.5	37	c.1227delA	CCDS3701.2																																																																																				0.333	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		10	14						10	14	---	---	---	---
TNIP3	79931	broad.mit.edu	37	4	122068279	122068280	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:122068279_122068280delTC	ENST00000509841.1	-	10	968_969	c.890_891delGA	c.(889-891)agafs	p.R297fs	TNIP3_ENST00000057513.3_Frame_Shift_Del_p.R220fs|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000454328.1_Frame_Shift_Del_p.R220fs|TNIP3_ENST00000507879.1_Frame_Shift_Del_p.R290fs	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CTTGATTAAGTCTCTCTCGATC	0.376																																						ENST00000454328.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(658-660)afs		TNFAIP3 interacting protein 3																																				SO:0001589	frameshift_variant	79931							g.chr4:122068279_122068280delTC	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.890_891delGA	4.37:g.122068285_122068286delTC	ENSP00000426613:p.Arg297fs					TNIP3_ENST00000057513.3_Frame_Shift_Del_p.R220fs|TNIP3_ENST00000509841.1_Frame_Shift_Del_p.R297fs|TNIP3_ENST00000507879.1_Frame_Shift_Del_p.R290fs|TNIP3_ENST00000511909.1_5'UTR	p.R220fs			Q96KP6	TNIP3_HUMAN			9	886_887	-			220						Frame_Shift_Del	DEL	ENST00000509841.1	37	c.659_660delGA	CCDS58926.1																																																																																				0.376	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		18	108						18	108	---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129869675	129869675	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:129869675delT	ENST00000281142.5	-	15	1772	c.1269delA	c.(1267-1269)aaafs	p.K423fs	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	423					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CTTCCACTGCTTTTTTTTCCT	0.328																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(1267-1269)aafs		sodium channel and clathrin linker 1							163.0	148.0	153.0					4																	129869675		2202	4298	6500	SO:0001589	frameshift_variant	132320					centrosome		g.chr4:129869675delT	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1269delA	4.37:g.129869675delT	ENSP00000281142:p.Lys423fs					SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR	p.K423fs	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			15	1772	-			423					A4QN04|Q0VAH2|Q6P2M4	Frame_Shift_Del	DEL	ENST00000281142.5	37	c.1269delA	CCDS3740.1																																																																																				0.328	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		12	54						12	54	---	---	---	---
NAA15	80155	broad.mit.edu	37	4	140291445	140291445	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:140291445delA	ENST00000296543.5	+	15	2157	c.1834delA	c.(1834-1836)aaafs	p.K613fs	NAA15_ENST00000398947.1_Frame_Shift_Del_p.K613fs	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	613	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						agaagaagagaaaaaaaatgc	0.358																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1834-1836)aafs		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							48.0	46.0	47.0					4																	140291445		1813	4073	5886	SO:0001589	frameshift_variant	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140291445delA	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1834delA	4.37:g.140291445delA	ENSP00000296543:p.Lys613fs					NAA15_ENST00000398947.1_Frame_Shift_Del_p.K613fs	p.K613fs	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			15	2157	+			613					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Frame_Shift_Del	DEL	ENST00000296543.5	37	c.1834delA	CCDS43270.1																																																																																				0.358	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		7	7						7	7	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146059009	146059010	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:146059009_146059010delTC	ENST00000447906.2	-	21	3104_3105	c.2917_2918delGA	c.(2917-2919)gaafs	p.E973fs	OTUD4_ENST00000454497.2_Frame_Shift_Del_p.E908fs|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	973					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AGGCACAGTTTCTCTCTCTCTG	0.455																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2722-2724)afs		OTU domain containing 4																																				SO:0001589	frameshift_variant	54726						protein binding	g.chr4:146059009_146059010delTC		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2917_2918delGA	4.37:g.146059017_146059018delTC	ENSP00000395487:p.Glu973fs					OTUD4_ENST00000447906.2_Frame_Shift_Del_p.E973fs|OTUD4_ENST00000455611.2_Intron	p.E908fs	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2859_2860	-	all_hematologic(180;0.151)		972					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Frame_Shift_Del	DEL	ENST00000447906.2	37	c.2722_2723delGA																																																																																					0.455	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		60	208						60	208	---	---	---	---
TMA16	55319	broad.mit.edu	37	4	164428284	164428285	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:164428284_164428285insA	ENST00000358572.5	+	2	444_445	c.103_104insA	c.(103-105)gaafs	p.E35fs	TMA16_ENST00000513134.1_Frame_Shift_Ins_p.E35fs|TMA16_ENST00000513272.1_Frame_Shift_Ins_p.E35fs|TMA16_ENST00000508268.1_Frame_Shift_Ins_p.E35fs|TMA16_ENST00000511562.1_3'UTR	NM_018352.2	NP_060822.2	Q96EY4	TMA16_HUMAN	translation machinery associated 16 homolog (S. cerevisiae)	35						nucleus (GO:0005634)		p.K37fs*4(1)									CCACAAACAAGAAAAAAAGGAA	0.356																																						ENST00000358572.5																			1	Deletion - Frameshift(1)	p.K37fs*4(1)	large_intestine(1)								c.(103-105)aaafs		translation machinery associated 16 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	55319							g.chr4:164428284_164428285insA		CCDS43278.1	4q32.3	2012-03-02	2012-03-02	2012-03-02	ENSG00000198498	ENSG00000198498			25638	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 43"""	C4orf43		12477932	Standard	NM_018352		Approved	FLJ11184	uc003iqq.4	Q96EY4	OTTHUMG00000161528	ENST00000358572.5:c.110dupA	4.37:g.164428291_164428291dupA	ENSP00000351380:p.Glu35fs					TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000513134.1_Frame_Shift_Ins_p.K35fs|TMA16_ENST00000508268.1_Frame_Shift_Ins_p.K35fs|TMA16_ENST00000513272.1_Frame_Shift_Ins_p.K35fs	p.K35fs	NM_018352.2	NP_060822.2	Q96EY4	CD043_HUMAN			2	444_445	+			35					Q0P6E4|Q0P6J1|Q9NUR7	Frame_Shift_Ins	INS	ENST00000358572.5	37	c.103_104insA	CCDS43278.1																																																																																				0.356	TMA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365208.1	NM_018352		6	8						6	8	---	---	---	---
TMA16	55319	broad.mit.edu	37	4	164435265	164435265	+	Frame_Shift_Del	DEL	A	A	-	rs2304802	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:164435265delA	ENST00000358572.5	+	4	535	c.194delA	c.(193-195)caafs	p.Q65fs	TMA16_ENST00000513134.1_Frame_Shift_Del_p.Q65fs|TMA16_ENST00000513272.1_Frame_Shift_Del_p.Q65fs|TMA16_ENST00000508268.1_Frame_Shift_Del_p.Q65fs|TMA16_ENST00000511562.1_3'UTR	NM_018352.2	NP_060822.2	Q96EY4	TMA16_HUMAN	translation machinery associated 16 homolog (S. cerevisiae)	65			Q -> P (in dbSNP:rs2304802). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			nucleus (GO:0005634)		p.Q65P(2)									CTTGATCCCCAAAAAAAGAGA	0.358																																						ENST00000358572.5																			2	Substitution - Missense(2)	p.Q65P(2)	prostate(1)|stomach(1)								c.(193-195)cafs		translation machinery associated 16 homolog (S. cerevisiae)							95.0	86.0	89.0					4																	164435265		1826	4074	5900	SO:0001589	frameshift_variant	55319							g.chr4:164435265delA		CCDS43278.1	4q32.3	2012-03-02	2012-03-02	2012-03-02	ENSG00000198498	ENSG00000198498			25638	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 43"""	C4orf43		12477932	Standard	NM_018352		Approved	FLJ11184	uc003iqq.4	Q96EY4	OTTHUMG00000161528	ENST00000358572.5:c.194delA	4.37:g.164435265delA	ENSP00000351380:p.Gln65fs					TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000513134.1_Frame_Shift_Del_p.Q65fs|TMA16_ENST00000508268.1_Frame_Shift_Del_p.Q65fs|TMA16_ENST00000513272.1_Frame_Shift_Del_p.Q65fs	p.Q65fs	NM_018352.2	NP_060822.2	Q96EY4	CD043_HUMAN			4	535	+			65		Q -> P (in dbSNP:rs2304802).			Q0P6E4|Q0P6J1|Q9NUR7	Frame_Shift_Del	DEL	ENST00000358572.5	37	c.194delA	CCDS43278.1																																																																																				0.358	TMA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365208.1	NM_018352		17	61						17	61	---	---	---	---
DDX60L	91351	broad.mit.edu	37	4	169325133	169325133	+	Splice_Site	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:169325133delA	ENST00000511577.1	-	25	3585	c.3338delT	c.(3337-3339)ttg>tg	p.L1113fs	DDX60L_ENST00000260184.7_Splice_Site_p.L1113fs|DDX60L_ENST00000505890.1_Splice_Site_p.L1113fs			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1113							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AGTTACTTACAAAAAAAATAT	0.274																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.e25+1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							30.0	27.0	28.0					4																	169325133		1786	4046	5832	SO:0001630	splice_region_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169325133delA	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3338+1T>-	4.37:g.169325133delA						DDX60L_ENST00000260184.7_Splice_Site_p.L1113_splice|DDX60L_ENST00000505890.1_Splice_Site_p.L1113_splice	p.L1113_splice			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	25	3585	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1113					Q96ND6	Splice_Site	DEL	ENST00000511577.1	37	c.3338_splice																																																																																					0.274	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967	Frame_Shift_Del	8	14						8	14	---	---	---	---
LINC01098	285501	broad.mit.edu	37	4	178897081	178897082	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr4:178897081_178897082delTT	ENST00000507870.1	+	5	746_747	c.284_285delTT	c.(283-285)attfs	p.I95fs																	lung(8)|prostate(1)	9						CTGAAGTATATTTTTTCTAAAT	0.376																																						ENST00000507870.1																			0				lung(8)|prostate(1)	9						c.(283-285)afs																																						SO:0001589	frameshift_variant	285501							g.chr4:178897081_178897082delTT																												ENST00000507870.1:c.284_285delTT	4.37:g.178897085_178897086delTT	ENSP00000421352:p.Ile95fs						p.I95fs							5	746_747	+									Frame_Shift_Del	DEL	ENST00000507870.1	37	c.284_285delTT																																																																																					0.376	RP11-389E17.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000361922.1			55	145						55	145	---	---	---	---
C5orf34	375444	broad.mit.edu	37	5	43487070	43487070	+	Frame_Shift_Del	DEL	T	T	-	rs142072137		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:43487070delT	ENST00000306862.2	-	13	2239	c.1864delA	c.(1864-1866)accfs	p.T622fs	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	622										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					ATTTCAGAGGTTTTTTTCAAT	0.289																																						ENST00000306862.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21						c.(1864-1866)ccfs		chromosome 5 open reading frame 34							81.0	82.0	81.0					5																	43487070		2202	4296	6498	SO:0001589	frameshift_variant	375444							g.chr5:43487070delT	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.1864delA	5.37:g.43487070delT	ENSP00000303490:p.Thr622fs					RP11-159F24.3_ENST00000505645.1_RNA	p.T622fs	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN			13	2239	-	Lung NSC(6;2.07e-05)		622						Frame_Shift_Del	DEL	ENST00000306862.2	37	c.1864delA	CCDS3946.1																																																																																				0.289	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		8	33						8	33	---	---	---	---
IL6ST	3572	broad.mit.edu	37	5	55247869	55247869	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:55247869delT	ENST00000381298.2	-	13	1899	c.1587delA	c.(1585-1587)aaafs	p.K529fs	IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381294.3_Frame_Shift_Del_p.K468fs|IL6ST_ENST00000336909.5_Frame_Shift_Del_p.K529fs|IL6ST_ENST00000502326.3_Frame_Shift_Del_p.K529fs|IL6ST_ENST00000536319.1_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	529	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)	p.V530fs*1(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTCCCTACTTTTTTTGTCC	0.348			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		1	Deletion - Frameshift(1)	p.V530fs*1(1)	large_intestine(1)	breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1585-1587)aafs		interleukin 6 signal transducer (gp130, oncostatin M receptor)							73.0	63.0	66.0					5																	55247869		2203	4300	6503	SO:0001589	frameshift_variant	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55247869delT	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1587delA	5.37:g.55247869delT	ENSP00000370698:p.Lys529fs					IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381294.3_Frame_Shift_Del_p.K468fs|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000502326.3_Frame_Shift_Del_p.K529fs|IL6ST_ENST00000336909.5_Frame_Shift_Del_p.K529fs|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381287.4_3'UTR	p.K529fs	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			13	1899	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	529			Fibronectin type-III 5.		A0N0L4|Q5FC04|Q9UQ41	Frame_Shift_Del	DEL	ENST00000381298.2	37	c.1587delA	CCDS3971.1																																																																																				0.348	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		11	38						11	38	---	---	---	---
MARVELD2	153562	broad.mit.edu	37	5	68737375	68737375	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:68737375delA	ENST00000325631.5	+	7	1645	c.1571delA	c.(1570-1572)gaafs	p.E524fs	MARVELD2_ENST00000413223.2_Frame_Shift_Del_p.E408fs	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	524					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ACATTTCTGGAAAAAAAAGAA	0.323																																						ENST00000325631.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15						c.(1570-1572)gafs		MARVEL domain containing 2							42.0	44.0	43.0					5																	68737375		2196	4296	6492	SO:0001589	frameshift_variant	153562				sensory perception of sound	integral to membrane|tight junction		g.chr5:68737375delA	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"""tricellulin"""	610572	"""MARVEL (membrane-associating) domain containing 2"", ""deafness, autosomal recessive 49"""	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.1571delA	5.37:g.68737375delA	ENSP00000323264:p.Glu524fs					MARVELD2_ENST00000413223.2_Frame_Shift_Del_p.E408fs	p.E524fs	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	7	1645	+		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	524					A1BQX0|A1BQX1|A8KA97|Q96NM9	Frame_Shift_Del	DEL	ENST00000325631.5	37	c.1571delA	CCDS34175.1																																																																																				0.323	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724		7	32						7	32	---	---	---	---
HAPLN1	1404	broad.mit.edu	37	5	82937358	82937358	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:82937358delT	ENST00000274341.4	-	5	1872	c.1022delA	c.(1021-1023)aagfs	p.K341fs		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	341	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	CAGCTTATGCTTTTTATCTGG	0.493																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(1021-1023)agfs		hyaluronan and proteoglycan link protein 1							135.0	144.0	141.0					5																	82937358		2203	4300	6503	SO:0001589	frameshift_variant	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82937358delT		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.1022delA	5.37:g.82937358delT	ENSP00000274341:p.Lys341fs						p.K341fs	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	5	1872	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	341			Link 2.		B2R9A9	Frame_Shift_Del	DEL	ENST00000274341.4	37	c.1022delA	CCDS4061.1																																																																																				0.493	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		52	204						52	204	---	---	---	---
ERAP1	51752	broad.mit.edu	37	5	96117518	96117518	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:96117518delC	ENST00000443439.2	-	16	2392	c.2326delG	c.(2326-2328)gccfs	p.A776fs	ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA|ERAP1_ENST00000296754.3_Frame_Shift_Del_p.A776fs	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	776					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		GTGCTCTGGGCCCCCACAGCA	0.458																																						ENST00000296754.3																			0				endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19						c.(2326-2328)ccfs		endoplasmic reticulum aminopeptidase 1							63.0	67.0	65.0					5																	96117518		2203	4300	6503	SO:0001589	frameshift_variant	51752				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding	g.chr5:96117518delC	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.2326delG	5.37:g.96117518delC	ENSP00000406304:p.Ala776fs					ERAP1_ENST00000443439.2_Frame_Shift_Del_p.A776fs|ERAP1_ENST00000514604.1_5'UTR	p.A776fs	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)	16	2583	-		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)	776					O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Frame_Shift_Del	DEL	ENST00000443439.2	37	c.2326delG	CCDS47250.1																																																																																				0.458	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		14	66						14	66	---	---	---	---
LVRN	206338	broad.mit.edu	37	5	115335468	115335468	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:115335468delT	ENST00000357872.4	+	7	1508	c.1384delT	c.(1384-1386)tttfs	p.F463fs	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		463						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										GAATGAGATCTTTTTTTCTAA	0.363																																						ENST00000357872.4																			0											c.(1384-1386)ttfs									53.0	56.0	55.0					5																	115335468		2201	4300	6501	SO:0001589	frameshift_variant	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115335468delT																												ENST00000357872.4:c.1384delT	5.37:g.115335468delT	ENSP00000350541:p.Phe463fs					AQPEP_ENST00000395528.2_5'UTR	p.F463fs	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			7	1508	+			463					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Frame_Shift_Del	DEL	ENST00000357872.4	37	c.1384delT	CCDS4124.1																																																																																				0.363	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			7	33						7	33	---	---	---	---
TXNDC15	79770	broad.mit.edu	37	5	134210145	134210145	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:134210145delC	ENST00000358387.4	+	1	653	c.28delC	c.(28-30)cccfs	p.P10fs	TXNDC15_ENST00000546290.1_5'Flank	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	10					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCGACGACCGCCCCGCGTCAT	0.716																																						ENST00000358387.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17						c.(28-30)ccfs		thioredoxin domain containing 15							40.0	45.0	43.0					5																	134210145		2202	4298	6500	SO:0001589	frameshift_variant	79770				cell redox homeostasis	integral to membrane		g.chr5:134210145delC	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.28delC	5.37:g.134210145delC	ENSP00000351157:p.Pro10fs						p.P10fs	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	653	+			10					D3DQA9|Q96MT2|Q9H639	Frame_Shift_Del	DEL	ENST00000358387.4	37	c.28delC	CCDS4180.1																																																																																				0.716	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		31	72						31	72	---	---	---	---
PCDHB14	56122	broad.mit.edu	37	5	140604247	140604247	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140604247delT	ENST00000239449.4	+	1	1170	c.1170delT	c.(1168-1170)cctfs	p.P390fs	PCDHB14_ENST00000515856.2_Frame_Shift_Del_p.P237fs	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	390	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAACCTCCCTTTTTTCCTGA	0.443																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1168-1170)ccfs									116.0	120.0	118.0					5																	140604247		2203	4300	6503	SO:0001589	frameshift_variant	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604247delT	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1170delT	5.37:g.140604247delT	ENSP00000239449:p.Pro390fs					PCDHB14_ENST00000515856.2_Frame_Shift_Del_p.P237fs	p.P390fs	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1170	+			390			Cadherin 4.		B4DPE2|Q4FZA4|Q4KN11	Frame_Shift_Del	DEL	ENST00000239449.4	37	c.1170delT	CCDS4256.1																																																																																				0.443	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		8	223						8	223	---	---	---	---
PCDHGB2	56103	broad.mit.edu	37	5	140741839	140741840	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140741839_140741840insA	ENST00000522605.1	+	1	2137_2138	c.2137_2138insA	c.(2137-2139)ctgfs	p.L713fs	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	713					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L713L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAATCTCCCTGCGCCTGCGA	0.569																																						ENST00000522605.1																			1	Substitution - coding silent(1)	p.L713L(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(2137-2139)gcgfs																																						SO:0001589	frameshift_variant	56103							g.chr5:140741839_140741840insA	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		Exception_encountered	5.37:g.140741839_140741840insA	ENSP00000429018:p.Leu713fs					PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.A713fs	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2137_2138	+								Q3MIJ3|Q9UN65	Frame_Shift_Ins	INS	ENST00000522605.1	37	c.2137_2138insA	CCDS54924.1																																																																																				0.569	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		33	152						33	152	---	---	---	---
PCDHGC3	5098	broad.mit.edu	37	5	140857741	140857742	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:140857741_140857742insA	ENST00000308177.3	+	1	2162_2163	c.2058_2059insA	c.(2059-2061)aaafs	p.K687fs	RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	687					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGGGAGCAGAAAAAAAATCT	0.5											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(2056-2061)caaaaafs																																						SO:0001589	frameshift_variant	5098							g.chr5:140857741_140857742insA	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.2066dupA	5.37:g.140857749_140857749dupA	ENSP00000312070:p.Lys687fs		OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron	p.QK686fs	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2162_2163	+								O60622|Q08192|Q9Y5C4	Frame_Shift_Ins	INS	ENST00000308177.3	37	c.2058_2059insA	CCDS4261.1																																																																																				0.500	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		9	400						9	400	---	---	---	---
PANK3	79646	broad.mit.edu	37	5	167986153	167986156	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:167986153_167986156delTGTT	ENST00000239231.6	-	6	1259_1262	c.943_946delAACA	c.(943-948)aacagafs	p.NR315fs	MIR103A1_ENST00000362165.1_RNA|PANK3_ENST00000520504.1_5'UTR	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	315					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		AAGACAACTCTGTTTATTTTCTAA	0.25																																						ENST00000239231.6																			0				NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(943-948)gafs		pantothenate kinase 3																																				SO:0001589	frameshift_variant	79646				coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity	g.chr5:167986153_167986156delTGTT	AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.943_946delAACA	5.37:g.167986153_167986156delTGTT	ENSP00000239231:p.Asn315fs					PANK3_ENST00000520504.1_5'UTR	p.NR315fs	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)	6	1259_1262	-	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	315					D3DQL1|Q53FJ9|Q7RTX4	Frame_Shift_Del	DEL	ENST00000239231.6	37	c.943_946delAACA	CCDS4368.1																																																																																				0.250	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594		8	29						8	29	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169116296	169116296	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:169116296delA	ENST00000256935.8	+	9	882	c.802delA	c.(802-804)aagfs	p.K268fs		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	268					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCTTCCCTAAGGAGATTGA	0.527																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(802-804)agfs		dedicator of cytokinesis 2							136.0	117.0	123.0					5																	169116296		2203	4300	6503	SO:0001589	frameshift_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169116296delA	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.802delA	5.37:g.169116296delA	ENSP00000256935:p.Lys268fs						p.K268fs	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	882	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	268					Q2M3I0|Q96AK7	Frame_Shift_Del	DEL	ENST00000256935.8	37	c.802delA	CCDS4371.1																																																																																				0.527	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		11	48						11	48	---	---	---	---
MXD3	83463	broad.mit.edu	37	5	176738407	176738408	+	Frame_Shift_Ins	INS	-	-	G	rs551943167	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:176738407_176738408insG	ENST00000439742.2	-	2	626_627	c.148_149insC	c.(148-150)cagfs	p.Q50fs	MXD3_ENST00000427908.2_Frame_Shift_Ins_p.Q50fs|MXD3_ENST00000513063.1_Frame_Shift_Ins_p.Q50fs|MXD3_ENST00000423571.2_Frame_Shift_Ins_p.Q50fs	NM_031300.3	NP_112590.1	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	50					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCAGGAGCCTGGGGGGGTCGC	0.748																																						ENST00000427908.2																			0											c.(148-150)ggcfs		MAX dimerization protein 3																																				SO:0001589	frameshift_variant	83463				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr5:176738407_176738408insG	BC000745	CCDS4416.1, CCDS47347.1	5q35.3	2013-03-20			ENSG00000213347	ENSG00000213347		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	14008	protein-coding gene	gene with protein product		609450					Standard	NM_031300		Approved	MAD3, bHLHc13	uc003mgb.2	Q9BW11	OTTHUMG00000130854	ENST00000439742.2:c.149dupC	5.37:g.176738414_176738414dupG	ENSP00000401867:p.Gln50fs					MXD3_ENST00000439742.2_Frame_Shift_Ins_p.G50fs|MXD3_ENST00000513063.1_Frame_Shift_Ins_p.G50fs|MXD3_ENST00000423571.2_Frame_Shift_Ins_p.G50fs	p.G50fs	NM_001142935.1	NP_001136407.1	Q9BW11	MAD3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	215_216	-	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	50					B4E0J1|Q53HK1|Q7Z4Y0|Q8NDJ7|Q96ME3	Frame_Shift_Ins	INS	ENST00000439742.2	37	c.148_149insC	CCDS4416.1																																																																																				0.748	MXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253427.1			3	5						3	5	---	---	---	---
PDLIM7	9260	broad.mit.edu	37	5	176916445	176916445	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:176916445delC	ENST00000355841.2	-	9	884	c.818delG	c.(817-819)ggcfs	p.G273fs	PDLIM7_ENST00000359895.2_Frame_Shift_Del_p.G239fs|PDLIM7_ENST00000393551.1_Frame_Shift_Del_p.G252fs|PDLIM7_ENST00000356618.4_Frame_Shift_Del_p.G252fs	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	273					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGTTGCTGCCCCCTCCTGG	0.677																																						ENST00000355841.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10						c.(817-819)gcfs		PDZ and LIM domain 7 (enigma)							24.0	31.0	28.0					5																	176916445		2200	4298	6498	SO:0001589	frameshift_variant	9260				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding	g.chr5:176916445delC	BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.818delG	5.37:g.176916445delC	ENSP00000348099:p.Gly273fs					PDLIM7_ENST00000393551.1_Frame_Shift_Del_p.G252fs|PDLIM7_ENST00000356618.4_Frame_Shift_Del_p.G252fs|PDLIM7_ENST00000359895.2_Frame_Shift_Del_p.G239fs	p.G273fs	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	884	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	273					Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Frame_Shift_Del	DEL	ENST00000355841.2	37	c.818delG	CCDS4422.1																																																																																				0.677	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253423.1	NM_005451		8	17						8	17	---	---	---	---
FLT4	2324	broad.mit.edu	37	5	180053023	180053023	+	Frame_Shift_Del	DEL	G	G	-	rs368621289		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr5:180053023delG	ENST00000261937.6	-	10	1345	c.1267delC	c.(1267-1269)cagfs	p.Q423fs	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Frame_Shift_Del_p.Q423fs|FLT4_ENST00000502649.1_Frame_Shift_Del_p.Q423fs	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	423	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.Q423fs*4(2)|p.Q233fs*4(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCATGTATCTGGGGGGGCACT	0.672																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			3	Insertion - Frameshift(3)	p.Q423fs*4(2)|p.Q233fs*4(1)	lung(3)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1267-1269)agfs		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						46.0	52.0	50.0					5																	180053023		2202	4296	6498	SO:0001589	frameshift_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180053023delG	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1267delC	5.37:g.180053023delG	ENSP00000261937:p.Gln423fs					FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Frame_Shift_Del_p.Q423fs|FLT4_ENST00000502649.1_Frame_Shift_Del_p.Q423fs	p.Q423fs	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	10	1345	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	423			Ig-like C2-type 5.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Frame_Shift_Del	DEL	ENST00000261937.6	37	c.1267delC	CCDS4457.1																																																																																				0.672	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			45	118						45	118	---	---	---	---
DEK	7913	broad.mit.edu	37	6	18264188	18264188	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:18264188delC	ENST00000397239.3	-	2	478	c.31delG	c.(31-33)gagfs	p.E11fs	DEK_ENST00000244776.7_Frame_Shift_Del_p.E11fs	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	11					chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			GGGGTTCCCTCCCCCTCCGCA	0.677			T	NUP214	AML																																	ENST00000397239.3				Dom	yes		6	6p23	7913	T	DEK oncogene (DNA binding)			L	NUP214		AML		0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(31-33)agfs		DEK oncogene							30.0	32.0	31.0					6																	18264188		2203	4300	6503	SO:0001589	frameshift_variant	7913				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	g.chr6:18264188delC	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.31delG	6.37:g.18264188delC	ENSP00000380414:p.Glu11fs					DEK_ENST00000244776.7_Frame_Shift_Del_p.E11fs	p.E11fs	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		2	478	-	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	11					B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Frame_Shift_Del	DEL	ENST00000397239.3	37	c.31delG	CCDS34344.1																																																																																				0.677	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			13	40						13	40	---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30572457	30572459	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:30572457_30572459delGAA	ENST00000376511.2	-	12	1560_1562	c.1008_1010delTTC	c.(1006-1011)tcttcc>tcc	p.336_337SS>S		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	336	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGGTTCTGGGGAAGAAGGTTTGG	0.522																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(1006-1011)tcc>tc		protein phosphatase 1, regulatory subunit 10																																				SO:0001651	inframe_deletion	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30572457_30572459delGAA	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1008_1010delTTC	6.37:g.30572460_30572462delGAA	ENSP00000365694:p.Ser337del						p.SS336del	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			12	1560_1562	-			336			Interaction with TOX4 (By similarity).		O00405	In_Frame_Del	DEL	ENST00000376511.2	37	c.1008_1010delTTC	CCDS4681.1																																																																																				0.522	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		93	449						93	449	---	---	---	---
C6orf136	221545	broad.mit.edu	37	6	30613721	30613721	+	5'Flank	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:30613721delG	ENST00000376473.5	+	0	0				AL662800.2_ENST00000583820.1_RNA|ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000330083.5_Frame_Shift_Del_p.G329fs|ATAT1_ENST00000376478.2_Frame_Shift_Del_p.G318fs|ATAT1_ENST00000376485.4_Frame_Shift_Del_p.G341fs|C6orf136_ENST00000293604.6_5'Flank|C6orf136_ENST00000376471.4_5'Flank	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136							mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CAGCCGCCATGGGGGGGTGAA	0.537																																						ENST00000330083.5																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(982-984)ggfs		alpha tubulin acetyltransferase 1							18.0	19.0	19.0					6																	30613721		1192	2513	3705	SO:0001631	upstream_gene_variant	79969						tubulin N-acetyltransferase activity	g.chr6:30613721delG	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221		6.37:g.30613721delG	Exception_encountered					ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000376478.2_Frame_Shift_Del_p.G318fs|ATAT1_ENST00000376485.4_Frame_Shift_Del_p.G341fs	p.G329fs	NM_001031722.2	NP_001026892.1	Q5SQI0	ATAT_HUMAN			11	1300	+			341					A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Frame_Shift_Del	DEL	ENST00000376473.5	37	c.982delG	CCDS43443.1																																																																																				0.537	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029		11	14						11	14	---	---	---	---
RNF8	9025	broad.mit.edu	37	6	37344706	37344708	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:37344706_37344708delAGA	ENST00000373479.4	+	6	1326_1328	c.1133_1135delAGA	c.(1132-1137)gagaag>gag	p.K379del	RNF8_ENST00000469731.1_In_Frame_Del_p.K379del	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	379					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TTGCAGGAAGAGAAGGAGAAGAT	0.404																																						ENST00000373479.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(1132-1137)gag>g		ring finger protein 8, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37344706_37344708delAGA	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.1133_1135delAGA	6.37:g.37344706_37344708delAGA	ENSP00000362578:p.Lys379del					RNF8_ENST00000469731.1_In_Frame_Del_p.EK380del	p.EK380del	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN			6	1326_1328	+			380					A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	In_Frame_Del	DEL	ENST00000373479.4	37	c.1133_1135delAGA	CCDS4834.1																																																																																				0.404	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			10	65						10	65	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38810477	38810478	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:38810477_38810478insT	ENST00000359357.3	+	33	4246_4247	c.3992_3993insT	c.(3991-3996)gcttttfs	p.AF1331fs	DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.AF1548fs|DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.AF1331fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1331					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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GATTGGCAAGCTTTTTTGGATC	0.356																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(3991-3993)gttfs		dynein, axonemal, heavy chain 8																																				SO:0001589	frameshift_variant	1769							g.chr6:38810477_38810478insT	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3998dupT	6.37:g.38810483_38810483dupT	ENSP00000352312:p.Ala1331fs					DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.V1331fs|DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.V1548fs	p.V1331fs							33	4246_4247	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Ins	INS	ENST00000359357.3	37	c.3992_3993insT																																																																																					0.356	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		18	66						18	66	---	---	---	---
GLP1R	2740	broad.mit.edu	37	6	39047367	39047367	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:39047367delC	ENST00000373256.4	+	11	1114	c.1071delC	c.(1069-1071)atcfs	p.I357fs		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	357					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	TGACACTCATCCCCCTGCTGG	0.567																																						ENST00000373256.4																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31						c.(1069-1071)atfs		glucagon-like peptide 1 receptor	Exenatide(DB01276)|Glucagon recombinant(DB00040)						87.0	82.0	84.0					6																	39047367		2203	4300	6503	SO:0001589	frameshift_variant	2740				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	g.chr6:39047367delC		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.1071delC	6.37:g.39047367delC	ENSP00000362353:p.Ile357fs						p.I357fs	NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN			11	1114	+			357					Q2M229|Q99669	Frame_Shift_Del	DEL	ENST00000373256.4	37	c.1071delC	CCDS4839.1																																																																																				0.567	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			23	53						23	53	---	---	---	---
TREM1	54210	broad.mit.edu	37	6	41248876	41248876	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:41248876delG	ENST00000244709.4	-	3	485	c.422delC	c.(421-423)cctfs	p.P141fs	TREM1_ENST00000591620.1_Frame_Shift_Del_p.P141fs|TREM1_ENST00000589614.1_Frame_Shift_Del_p.P141fs|TREM1_ENST00000334475.6_Intron	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	141					blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					ATTGGAGCCAGGGGTCCCTGA	0.488																																						ENST00000591620.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16						c.(421-423)ctfs		triggering receptor expressed on myeloid cells 1	Glutathione(DB00143)						66.0	64.0	64.0					6																	41248876		2203	4300	6503	SO:0001589	frameshift_variant	54210				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity	g.chr6:41248876delG	AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.422delC	6.37:g.41248876delG	ENSP00000244709:p.Pro141fs					TREM1_ENST00000244709.4_Frame_Shift_Del_p.P141fs|TREM1_ENST00000589614.1_Frame_Shift_Del_p.P141fs|TREM1_ENST00000334475.6_Intron	p.P141fs	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN			3	448	-	Ovarian(28;0.0327)|Colorectal(47;0.196)		141					B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Frame_Shift_Del	DEL	ENST00000244709.4	37	c.422delC	CCDS4854.1																																																																																				0.488	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2	NM_018643		13	50						13	50	---	---	---	---
MUT	4594	broad.mit.edu	37	6	49427151	49427151	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:49427151delA	ENST00000274813.3	-	2	156	c.29delT	c.(28-30)ttafs	p.L11fs		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	11					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGTGAAAGTAAAAAAAGCTG	0.413																																						ENST00000274813.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30						c.(28-30)tafs		methylmalonyl CoA mutase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						71.0	74.0	73.0					6																	49427151		2203	4300	6503	SO:0001589	frameshift_variant	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49427151delA		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.29delT	6.37:g.49427151delA	ENSP00000274813:p.Leu11fs						p.L11fs	NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN			2	156	-	Lung NSC(77;0.0376)		11					A8K953|Q5SYZ3|Q96B11|Q9UD64	Frame_Shift_Del	DEL	ENST00000274813.3	37	c.29delT	CCDS4924.1																																																																																				0.413	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			14	68						14	68	---	---	---	---
TFAP2D	83741	broad.mit.edu	37	6	50712845	50712845	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:50712845delT	ENST00000008391.3	+	6	1137	c.909delT	c.(907-909)gatfs	p.D303fs	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TGGCTCGGGATTTTGGCTACA	0.433																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(907-909)gafs		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							105.0	103.0	103.0					6																	50712845		2203	4300	6503	SO:0001589	frameshift_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50712845delT	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.909delT	6.37:g.50712845delT	ENSP00000008391:p.Asp303fs					TFAP2D_ENST00000492804.1_3'UTR	p.D303fs	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			6	1137	+	Lung NSC(77;0.0334)		303			H-S-H (helix-span-helix), dimerization.			Frame_Shift_Del	DEL	ENST00000008391.3	37	c.909delT	CCDS4933.1																																																																																				0.433	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		14	54						14	54	---	---	---	---
GCM1	8521	broad.mit.edu	37	6	52996817	52996817	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:52996817delA	ENST00000259803.7	-	4	640	c.429delT	c.(427-429)tttfs	p.F143fs		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	143					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GGAAAAATATAAAGCGTCCGT	0.507																																						ENST00000259803.7																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.(427-429)ttfs		glial cells missing homolog 1 (Drosophila)							61.0	60.0	60.0					6																	52996817		2203	4300	6503	SO:0001589	frameshift_variant	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52996817delA	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.429delT	6.37:g.52996817delA	ENSP00000259803:p.Phe143fs						p.F143fs	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			4	640	-	Lung NSC(77;0.0755)		143					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Frame_Shift_Del	DEL	ENST00000259803.7	37	c.429delT	CCDS4950.1																																																																																				0.507	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			14	47						14	47	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66094366	66094367	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:66094366_66094367insT	ENST00000370621.3	-	8	1737_1738	c.1211_1212insA	c.(1210-1212)aacfs	p.N404fs	EYS_ENST00000503581.1_Frame_Shift_Ins_p.N404fs|EYS_ENST00000370616.2_Frame_Shift_Ins_p.N404fs|EYS_ENST00000370618.3_Frame_Shift_Ins_p.N404fs|EYS_ENST00000342421.5_Frame_Shift_Ins_p.N404fs|EYS_ENST00000393380.2_Frame_Shift_Ins_p.N404fs			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	404	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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						CTTTCTCACAGTTTTTTTCAGT	0.282																																						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.(1210-1212)atgfs		eyes shut homolog (Drosophila)																																				SO:0001589	frameshift_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66094366_66094367insT		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.1212dupA	6.37:g.66094373_66094373dupT	ENSP00000359655:p.Asn404fs					EYS_ENST00000393380.2_Frame_Shift_Ins_p.M404fs|EYS_ENST00000370618.3_Frame_Shift_Ins_p.M404fs|EYS_ENST00000342421.5_Frame_Shift_Ins_p.M404fs|EYS_ENST00000370616.2_Frame_Shift_Ins_p.M404fs|EYS_ENST00000370621.3_Frame_Shift_Ins_p.M404fs	p.M404fs	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			8	1748_1749	-			404			EGF-like 5.		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Frame_Shift_Ins	INS	ENST00000370621.3	37	c.1211_1212insA																																																																																					0.282	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		14	37						14	37	---	---	---	---
RPF2	84154	broad.mit.edu	37	6	111306297	111306297	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:111306297delG	ENST00000441448.2	+	2	204	c.112delG	c.(112-114)gggfs	p.G39fs		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	39	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						GCTGATTAAAGGGGGAAATGC	0.328																																						ENST00000441448.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						c.(112-114)ggfs		ribosome production factor 2 homolog (S. cerevisiae)							101.0	118.0	112.0					6																	111306297		2203	4300	6503	SO:0001589	frameshift_variant	84154					nucleolus	protein binding	g.chr6:111306297delG	AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"""ribosomal processing factor 2 homolog (S. cerevisiae)"""		"""brix domain containing 1"""	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.112delG	6.37:g.111306297delG	ENSP00000402338:p.Gly39fs						p.G39fs	NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN			2	204	+			39			Brix.		Q5VXN1|Q8N4A1	Frame_Shift_Del	DEL	ENST00000441448.2	37	c.112delG	CCDS5088.1																																																																																				0.328	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194		26	219						26	219	---	---	---	---
TNFAIP3	7128	broad.mit.edu	37	6	138199945	138199945	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:138199945delG	ENST00000237289.4	+	7	1429	c.1363delG	c.(1363-1365)gggfs	p.G456fs		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	456	Interaction with TNIP1. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.P450fs*21(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GGAGTCCACTGGGGGGCCTCA	0.657			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4				Rec	yes		6	6q23	7128	"""D, N, F"""	"""tumor necrosis factor, alpha-induced protein 3"""			L			"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""		26	Whole gene deletion(25)|Deletion - Frameshift(1)	p.0?(25)|p.P450fs*21(1)	haematopoietic_and_lymphoid_tissue(26)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225						c.(1363-1365)ggfs		tumor necrosis factor, alpha-induced protein 3							22.0	26.0	24.0					6																	138199945		2203	4300	6503	SO:0001589	frameshift_variant	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138199945delG	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.1363delG	6.37:g.138199945delG	ENSP00000237289:p.Gly456fs						p.G456fs	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	7	1429	+	Breast(32;0.135)|Colorectal(23;0.24)		456			Interaction with NAF1 (By similarity).		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Frame_Shift_Del	DEL	ENST00000237289.4	37	c.1363delG	CCDS5187.1																																																																																				0.657	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1			15	75						15	75	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169632254	169632255	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr6:169632254_169632255delTG	ENST00000366787.3	-	14	2220_2221	c.1971_1972delCA	c.(1969-1974)cacaacfs	p.HN657fs	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	657	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTGTGGCAGTTGTGTGTCTTGT	0.629																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(1969-1974)caacfs		thrombospondin 2																																				SO:0001589	frameshift_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169632254_169632255delTG		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1971_1972delCA	6.37:g.169632258_169632259delTG	ENSP00000355751:p.His657fs					XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.HN657fs	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	14	2220_2221	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	657			EGF-like 3.		A6H8N1|A7E232|Q5RI52	Frame_Shift_Del	DEL	ENST00000366787.3	37	c.1971_1972delCA	CCDS34574.1																																																																																				0.629	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		20	136						20	136	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21778377	21778378	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:21778377_21778378insA	ENST00000409508.3	+	47	7735_7736	c.7704_7705insA	c.(7705-7707)aaafs	p.K2569fs	DNAH11_ENST00000328843.6_Frame_Shift_Ins_p.K2576fs	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2576	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGGAGGAAATAAAAAATTGAT	0.391									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(7723-7728)aaaaaafs		dynein, axonemal, heavy chain 11																																				SO:0001589	frameshift_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21778377_21778378insA	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7710dupA	7.37:g.21778383_21778383dupA	ENSP00000475939:p.Lys2569fs					DNAH11_ENST00000409508.3_Frame_Shift_Ins_p.KK2568fs	p.KK2575fs			Q96DT5	DYH11_HUMAN			48	7756_7757	+			2575			AAA 3 (By similarity).		Q9UJ82	Frame_Shift_Ins	INS	ENST00000409508.3	37	c.7725_7726insA																																																																																					0.391	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		3	5						3	5	---	---	---	---
CDCA7L	55536	broad.mit.edu	37	7	21939669	21939669	+	IGR	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:21939669delA	ENST00000406877.3	-	0	3066				DNAH11_ENST00000328843.6_Frame_Shift_Del_p.K4420fs|DNAH11_ENST00000409508.3_Frame_Shift_Del_p.K4413fs	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like						positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TGATGTTACCAAAAAAACAAA	0.468																																						ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(13255-13257)aafs		dynein, axonemal, heavy chain 11							65.0	66.0	66.0					7																	21939669		1891	4098	5989	SO:0001628	intergenic_variant	8701	Kartagener syndrome			microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21939669delA		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429		7.37:g.21939669delA						DNAH11_ENST00000409508.3_Frame_Shift_Del_p.K4413fs	p.K4420fs			Q96DT5	DYH11_HUMAN			82	13286	+			4420					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Frame_Shift_Del	DEL	ENST00000406877.3	37	c.13255delA	CCDS5374.1																																																																																				0.468	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		16	36						16	36	---	---	---	---
IGF2BP3	10643	broad.mit.edu	37	7	23353164	23353165	+	Frame_Shift_Del	DEL	CT	CT	-	rs187762001		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:23353164_23353165delCT	ENST00000258729.3	-	13	1859_1860	c.1503_1504delAG	c.(1501-1506)agagttfs	p.RV501fs		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	501	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TTTCCAATAACTCTGCCAGCAG	0.416																																						ENST00000258729.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						c.(1501-1506)agttfs		insulin-like growth factor 2 mRNA binding protein 3																																				SO:0001589	frameshift_variant	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23353164_23353165delCT	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.1503_1504delAG	7.37:g.23353166_23353167delCT	ENSP00000258729:p.Arg501fs						p.RV501fs	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN			13	1859_1860	-			501			KH 4.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Frame_Shift_Del	DEL	ENST00000258729.3	37	c.1503_1504delAG	CCDS5382.1																																																																																				0.416	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		36	133						36	133	---	---	---	---
ANLN	54443	broad.mit.edu	37	7	36464330	36464331	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:36464330_36464331insA	ENST00000265748.2	+	17	2909_2910	c.2688_2689insA	c.(2689-2691)aaafs	p.K897fs	ANLN_ENST00000396068.2_Frame_Shift_Ins_p.K860fs	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	897	Localization to the cleavage furrow.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTGATAAGAAGAAAAAAACATC	0.297																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(2686-2691)aaaaaafs		anillin, actin binding protein																																				SO:0001589	frameshift_variant	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36464330_36464331insA	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2695dupA	7.37:g.36464337_36464337dupA	ENSP00000265748:p.Lys897fs					ANLN_ENST00000396068.2_Frame_Shift_Ins_p.KK859fs	p.KK896fs	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			17	2909_2910	+			896			Localization to the cleavage furrow.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Frame_Shift_Ins	INS	ENST00000265748.2	37	c.2688_2689insA	CCDS5447.1																																																																																				0.297	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		12	37						12	37	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38305256	38305256	+	RNA	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:38305256delA	ENST00000443402.2	-	0	23					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											GGCTTGGGGGAAACATCTGCA	0.383																																						ENST00000443402.2																			0																				141.0	151.0	148.0					7																	38305256		1798	4074	5872			6966							g.chr7:38305256delA	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38305256delA								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	23	-									RNA	DEL	ENST00000443402.2	37																																																																																						0.383	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		63	263						63	263	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48313595	48313595	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:48313595delA	ENST00000435803.1	+	17	4356	c.4332delA	c.(4330-4332)atafs	p.I1444fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1444					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTTAAATATAAAAAAACCTC	0.269																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(4330-4332)atfs		ATP-binding cassette, sub-family A (ABC1), member 13							29.0	32.0	31.0					7																	48313595		1785	4031	5816	SO:0001589	frameshift_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48313595delA	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.4332delA	7.37:g.48313595delA	ENSP00000411096:p.Ile1444fs						p.I1444fs	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	4356	+			1444					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Frame_Shift_Del	DEL	ENST00000435803.1	37	c.4332delA	CCDS47584.1																																																																																				0.269	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		14	51						14	51	---	---	---	---
TYW1B	441250	broad.mit.edu	37	7	72236591	72236591	+	RNA	DEL	A	A	-	rs572448846		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:72236591delA	ENST00000435769.2	-	0	1087				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										AAAAACAAACAAAAAAAACCT	0.333																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)																																						441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72236591delA	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72236591delA										Q6NUM6	TYW1B_HUMAN			0	577	-								A6NG09|B4DFY2|Q3KQX2	RNA	DEL	ENST00000435769.2	37																																																																																						0.333	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		8	25						8	25	---	---	---	---
ASB15	142685	broad.mit.edu	37	7	123269113	123269113	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:123269113delT	ENST00000451558.1	+	12	1586	c.1065delT	c.(1063-1065)tatfs	p.Y355fs	ASB15_ENST00000451215.1_Frame_Shift_Del_p.Y355fs|ASB15_ENST00000275699.3_Frame_Shift_Del_p.Y355fs|ASB15_ENST00000434204.1_Frame_Shift_Del_p.Y355fs|ASB15_ENST00000540573.1_Frame_Shift_Del_p.Y355fs			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	355					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CTGCGCTGTATTTTGGCGTTT	0.448																																						ENST00000451558.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(1063-1065)tafs		ankyrin repeat and SOCS box containing 15							161.0	145.0	150.0					7																	123269113		2203	4300	6503	SO:0001589	frameshift_variant	142685				intracellular signal transduction			g.chr7:123269113delT	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1065delT	7.37:g.123269113delT	ENSP00000397655:p.Tyr355fs					ASB15_ENST00000540573.1_Frame_Shift_Del_p.Y355fs|ASB15_ENST00000275699.3_Frame_Shift_Del_p.Y355fs|ASB15_ENST00000451215.1_Frame_Shift_Del_p.Y355fs|ASB15_ENST00000434204.1_Frame_Shift_Del_p.Y355fs	p.Y355fs			Q8WXK1	ASB15_HUMAN			12	1586	+			355					Q3ZCP3|Q3ZCP5|Q68D37	Frame_Shift_Del	DEL	ENST00000451558.1	37	c.1065delT	CCDS34742.1																																																																																				0.448	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			36	102						36	102	---	---	---	---
TNPO3	23534	broad.mit.edu	37	7	128610312	128610313	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:128610312_128610313insA	ENST00000265388.5	-	20	2630_2631	c.2487_2488insT	c.(2485-2490)cttggafs	p.G830fs	RN7SL306P_ENST00000492941.2_RNA|TNPO3_ENST00000471166.1_Frame_Shift_Ins_p.G864fs|TNPO3_ENST00000482320.1_Frame_Shift_Ins_p.G764fs|TNPO3_ENST00000393245.1_Frame_Shift_Ins_p.G864fs|TNPO3_ENST00000471234.1_Frame_Shift_Ins_p.G766fs			Q9Y5L0	TNPO3_HUMAN	transportin 3	830					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AGCTGCTGTCCAAGCTGGTTCA	0.485																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(2587-2592)ctgacafs		transportin 3																																				SO:0001589	frameshift_variant	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128610312_128610313insA	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2488dupT	7.37:g.128610314_128610314dupA	ENSP00000265388:p.Gly830fs					TNPO3_ENST00000471166.1_Frame_Shift_Ins_p.T864fs|TNPO3_ENST00000471234.1_Frame_Shift_Ins_p.T766fs|TNPO3_ENST00000265388.5_Frame_Shift_Ins_p.T830fs|TNPO3_ENST00000482320.1_Frame_Shift_Ins_p.T764fs	p.T864fs	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			20	2962_2963	-			830					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Frame_Shift_Ins	INS	ENST00000265388.5	37	c.2589_2590insT	CCDS5809.1																																																																																				0.485	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		109	281						109	281	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131189175	131189177	+	In_Frame_Del	DEL	CTC	CTC	-	rs558309598		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:131189175_131189177delCTC	ENST00000378555.3	-	9	1817_1819	c.1570_1572delGAG	c.(1570-1572)gagdel	p.E524del	PODXL_ENST00000541194.1_In_Frame_Del_p.E526del|PODXL_ENST00000322985.9_In_Frame_Del_p.E492del|PODXL_ENST00000537928.1_In_Frame_Del_p.E492del			O00592	PODXL_HUMAN	podocalyxin-like	524					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.E524Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CCACCTTCTTCTCCTGCATCTCA	0.567																																						ENST00000541194.1																			1	Substitution - Missense(1)	p.E524Q(1)	breast(1)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1576-1578)del		podocalyxin-like			,	10,4254		1,8,2123					,	5.7	1.0			161	18,8236		9,0,4118	no	coding,coding	PODXL	NM_005397.3,NM_001018111.2	,	10,8,6241	A1A1,A1R,RR		0.2181,0.2345,0.2237	,	,		28,12490				SO:0001651	inframe_deletion	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131189175_131189177delCTC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1570_1572delGAG	7.37:g.131189175_131189177delCTC	ENSP00000367817:p.Glu524del					PODXL_ENST00000537928.1_In_Frame_Del_p.E492del|PODXL_ENST00000378555.3_In_Frame_Del_p.E524del|PODXL_ENST00000322985.9_In_Frame_Del_p.E492del	p.E526del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			9	1833_1835	-	Melanoma(18;0.162)		524					A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	ENST00000378555.3	37	c.1576_1578delGAG	CCDS34755.1																																																																																				0.567	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		24	144						24	144	---	---	---	---
TRBV7-8	28590	broad.mit.edu	37	7	142099832	142099833	+	RNA	DEL	CA	CA	-	rs377589241|rs150299545|rs527701975	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:142099832_142099833delCA	ENST00000390359.3	-	0	88									T cell receptor beta variable 7-8																		accactctctcacacacacaca	0.455																																						ENST00000390359.3																			0																	68,3612		7,54,1779						-5.2	0.0			58	51,7855		15,21,3917	no	intergenic				22,75,5696	A1A1,A1R,RR		0.6451,1.8478,1.0271				119,11467						28590							g.chr7:142099832_142099833delCA	M11953		7q34	2012-02-07			ENSG00000229200			"""T cell receptors / TRB locus"""	12242	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV78, TCRBV6S2A1N1T, TCRBV7S8			OTTHUMG00000158875		7.37:g.142099842_142099843delCA														0	88	-									RNA	DEL	ENST00000390359.3	37																																																																																						0.455	TRBV7-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352483.1	NG_001333		22	65						22	65	---	---	---	---
REPIN1	29803	broad.mit.edu	37	7	150069439	150069439	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:150069439delC	ENST00000425389.2	+	1	1187	c.1109delC	c.(1108-1110)gccfs	p.A370fs	REPIN1_ENST00000489432.2_Frame_Shift_Del_p.A427fs|REPIN1_ENST00000397281.2_Frame_Shift_Del_p.A370fs|REPIN1_ENST00000444957.1_Frame_Shift_Del_p.A370fs|REPIN1_ENST00000479668.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000540729.1_Frame_Shift_Del_p.A370fs	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	370	Pro-rich.				DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CCGATCGAAGCCCCCCCCTCC	0.751																																						ENST00000397281.2																			0				cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						c.(1108-1110)gcfs		replication initiator 1			,,,	32,2682		6,20,1331	2.0	4.0	3.0		,,,	1.4	0.0	7		3	61,6161		9,43,3059	no	frameshift,frameshift,frameshift,frameshift	REPIN1	NM_014374.3,NM_013400.3,NM_001099696.2,NM_001099695.1	,,,	15,63,4390	A1A1,A1R,RR		0.9804,1.1791,1.0407	,,,	,,,	150069439	93,8843	1517	3420	4937	SO:0001589	frameshift_variant	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069439delC	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1109delC	7.37:g.150069439delC	ENSP00000388287:p.Ala370fs					RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000489432.2_Frame_Shift_Del_p.A427fs|REPIN1_ENST00000425389.2_Frame_Shift_Del_p.A370fs|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000540729.1_Frame_Shift_Del_p.A370fs|REPIN1_ENST00000444957.1_Frame_Shift_Del_p.A370fs	p.A370fs	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1598	+	Ovarian(565;0.183)|Melanoma(164;0.226)		370			Pro-rich.		C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Frame_Shift_Del	DEL	ENST00000425389.2	37	c.1109delC	CCDS43677.1																																																																																				0.751	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		3	4						3	4	---	---	---	---
SLC4A2	6522	broad.mit.edu	37	7	150764061	150764061	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:150764061delC	ENST00000485713.1	+	7	1987	c.947delC	c.(946-948)gccfs	p.A316fs	SLC4A2_ENST00000461735.1_Frame_Shift_Del_p.A302fs|SLC4A2_ENST00000413384.2_Frame_Shift_Del_p.A316fs|SLC4A2_ENST00000310317.5_Frame_Shift_Del_p.A234fs|SLC4A2_ENST00000392826.2_Frame_Shift_Del_p.A307fs	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	316	Pro-rich.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGACCCCGGGCCCCCCACAAG	0.637																																						ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(946-948)gcfs		solute carrier family 4 (anion exchanger), member 2							35.0	48.0	44.0					7																	150764061		2202	4299	6501	SO:0001589	frameshift_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150764061delC		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.947delC	7.37:g.150764061delC	ENSP00000419412:p.Ala316fs					SLC4A2_ENST00000392826.2_Frame_Shift_Del_p.A307fs|SLC4A2_ENST00000413384.2_Frame_Shift_Del_p.A316fs|SLC4A2_ENST00000461735.1_Frame_Shift_Del_p.A302fs|SLC4A2_ENST00000310317.5_Frame_Shift_Del_p.A234fs	p.A316fs	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	7	1987	+			316			Pro-rich.		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Frame_Shift_Del	DEL	ENST00000485713.1	37	c.947delC	CCDS5917.1																																																																																				0.637	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		38	136						38	136	---	---	---	---
NUB1	51667	broad.mit.edu	37	7	151064135	151064135	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:151064135delA	ENST00000355851.4	+	9	988	c.911delA	c.(910-912)gaafs	p.E304fs	NUB1_ENST00000566856.1_Frame_Shift_Del_p.E304fs|NUB1_ENST00000413040.2_Frame_Shift_Del_p.E328fs|NUB1_ENST00000568733.1_Frame_Shift_Del_p.E328fs	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	304					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GATGATGCAGAAAAAAAATTA	0.423																																						ENST00000568733.1																			0				endometrium(1)|large_intestine(7)|lung(3)	11						c.(982-984)gafs		negative regulator of ubiquitin-like proteins 1							76.0	75.0	75.0					7																	151064135		1889	4108	5997	SO:0001589	frameshift_variant	51667				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding	g.chr7:151064135delA	AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.911delA	7.37:g.151064135delA	ENSP00000348110:p.Glu304fs					NUB1_ENST00000566856.1_Frame_Shift_Del_p.E304fs|NUB1_ENST00000355851.4_Frame_Shift_Del_p.E304fs|NUB1_ENST00000413040.2_Frame_Shift_Del_p.E328fs	p.E328fs			Q9Y5A7	NUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	9	1049	+			304					O95422|Q75MR9|Q8IX22|Q9BXR2	Frame_Shift_Del	DEL	ENST00000355851.4	37	c.983delA																																																																																					0.423	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016118		16	57						16	57	---	---	---	---
GALNT11	63917	broad.mit.edu	37	7	151791468	151791468	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr7:151791468delA	ENST00000434507.1	+	4	593	c.156delA	c.(154-156)ccafs	p.P52fs	GALNT11_ENST00000422997.2_Frame_Shift_Del_p.P52fs|GALNT11_ENST00000415421.1_Frame_Shift_Del_p.P52fs|GALNT11_ENST00000320311.2_Frame_Shift_Del_p.P52fs|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000430044.2_Frame_Shift_Del_p.P52fs|GALNT11_ENST00000452146.2_Intron			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	52					cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GACCATCTCCAAAAAAATTCT	0.473																																						ENST00000434507.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27						c.(154-156)ccfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)							102.0	105.0	104.0					7																	151791468		2203	4300	6503	SO:0001589	frameshift_variant	63917					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:151791468delA	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.156delA	7.37:g.151791468delA	ENSP00000416787:p.Pro52fs					GALNT11_ENST00000415421.1_Frame_Shift_Del_p.P52fs|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000320311.2_Frame_Shift_Del_p.P52fs|GALNT11_ENST00000430044.2_Frame_Shift_Del_p.P52fs|GALNT11_ENST00000422997.2_Frame_Shift_Del_p.P52fs	p.P52fs			Q8NCW6	GLT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	4	593	+	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	52					B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Frame_Shift_Del	DEL	ENST00000434507.1	37	c.156delA	CCDS5930.1																																																																																				0.473	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087		44	159						44	159	---	---	---	---
FBXO25	26260	broad.mit.edu	37	8	381399	381399	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:381399delA	ENST00000276326.5	+	3	312	c.193delA	c.(193-195)aaafs	p.K66fs	FBXO25_ENST00000352684.2_Frame_Shift_Del_p.R14fs|FBXO25_ENST00000382824.1_Frame_Shift_Del_p.R14fs|FBXO25_ENST00000350302.3_Frame_Shift_Del_p.K66fs	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	66	Interaction with beta-actin.				protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		ATATGCATCGAAAAAAAGGAA	0.259																																						ENST00000352684.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						c.(40-42)cgfs		F-box protein 25							46.0	51.0	49.0					8																	381399		2197	4277	6474	SO:0001589	frameshift_variant	26260					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity	g.chr8:381399delA	AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"""F-boxes /  ""other"""""	13596	protein-coding gene	gene with protein product		609098	"""F-box only protein 25"""			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.193delA	8.37:g.381399delA	ENSP00000276326:p.Lys66fs					FBXO25_ENST00000350302.3_Frame_Shift_Del_p.K66fs|FBXO25_ENST00000276326.5_Frame_Shift_Del_p.K66fs|FBXO25_ENST00000382824.1_Frame_Shift_Del_p.R14fs	p.R14fs	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)	3	459	+		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)	0			Interaction with beta-actin.		Q6PJ83|Q7Z4V4|Q9UKB8	Frame_Shift_Del	DEL	ENST00000276326.5	37	c.42delA	CCDS5953.1																																																																																				0.259	FBXO25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206710.2	NM_012173		17	100						17	100	---	---	---	---
ERICH1	157697	broad.mit.edu	37	8	623865	623865	+	Frame_Shift_Del	DEL	T	T	-	rs145266372		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:623865delT	ENST00000262109.7	-	4	564	c.487delA	c.(487-489)aggfs	p.R163fs	ERICH1_ENST00000518277.1_5'UTR|ERICH1_ENST00000522706.1_Frame_Shift_Del_p.R69fs	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	163										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TTCAGTTTCCTTTTTTTATTT	0.433																																						ENST00000262109.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20						c.(487-489)ggfs		glutamate-rich 1							62.0	70.0	68.0					8																	623865		2203	4300	6503	SO:0001589	frameshift_variant	157697							g.chr8:623865delT		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.487delA	8.37:g.623865delT	ENSP00000262109:p.Arg163fs					ERICH1_ENST00000522706.1_Frame_Shift_Del_p.R69fs|ERICH1_ENST00000518277.1_5'UTR	p.R163fs	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	4	564	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	163					A8K2J9|Q9P063	Frame_Shift_Del	DEL	ENST00000262109.7	37	c.487delA	CCDS5955.1																																																																																				0.433	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		36	62						36	62	---	---	---	---
SPAG11A	653423	broad.mit.edu	37	8	7718228	7718228	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:7718228delT	ENST00000326558.5	+	3	298	c.275delT	c.(274-276)cttfs	p.L92fs	SPAG11A_ENST00000351436.4_Intron|SPAG11A_ENST00000326625.5_Frame_Shift_Del_p.L39fs|SPAG11A_ENST00000434307.2_3'UTR|SPAG11A_ENST00000454911.2_3'UTR	NM_001081552.2	NP_001075021.2	Q6PDA7	SG11A_HUMAN	sperm associated antigen 11A	0						extracellular region (GO:0005576)		p.L92H(1)		central_nervous_system(1)|lung(2)	3				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		ATCTGCAGACTTTTTTTCTGC	0.413																																						ENST00000326558.5																			1	Substitution - Missense(1)	p.L92H(1)	central_nervous_system(1)	central_nervous_system(1)|lung(2)	3						c.(274-276)ctfs		sperm associated antigen 11A							127.0	98.0	108.0					8																	7718228		2189	4291	6480	SO:0001589	frameshift_variant	653423							g.chr8:7718228delT		CCDS43700.1	8p23.1	2009-09-12	2007-03-15		ENSG00000178287	ENSG00000178287			33342	protein-coding gene	gene with protein product	"""epididymal protein 2A"""						Standard	NM_001081552		Approved	HE2, EDDM2A		Q6PDA7	OTTHUMG00000162440	ENST00000326558.5:c.275delT	8.37:g.7718228delT	ENSP00000316012:p.Leu92fs					SPAG11A_ENST00000454911.2_3'UTR|SPAG11A_ENST00000351436.4_Intron|SPAG11A_ENST00000434307.2_3'UTR|SPAG11A_ENST00000326625.5_Frame_Shift_Del_p.L39fs	p.L92fs	NM_001081552.2	NP_001075021.2				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)	3	298	+								A6NIY0|E9PAK7	Frame_Shift_Del	DEL	ENST00000326558.5	37	c.275delT	CCDS43700.1																																																																																				0.413	SPAG11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368921.2	NM_001081552		30	93						30	93	---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9567543	9567544	+	Frame_Shift_Ins	INS	-	-	A	rs200458028		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:9567543_9567544insA	ENST00000310430.6	+	10	1683_1684	c.1657_1658insA	c.(1657-1659)gaafs	p.E553fs	TNKS_ENST00000518281.1_Frame_Shift_Ins_p.E316fs|TNKS_ENST00000520408.1_Frame_Shift_Ins_p.E553fs	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	553					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAATGTTAATGAAAAAAATAAA	0.342																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(1657-1659)aaafs		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase																																				SO:0001589	frameshift_variant	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9567543_9567544insA	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1664dupA	8.37:g.9567550_9567550dupA	ENSP00000311579:p.Glu553fs					TNKS_ENST00000518281.1_Frame_Shift_Ins_p.K316fs|TNKS_ENST00000520408.1_Frame_Shift_Ins_p.K553fs	p.K553fs	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	10	1683_1684	+			553					O95272|Q4G0F2	Frame_Shift_Ins	INS	ENST00000310430.6	37	c.1657_1658insA	CCDS5974.1																																																																																				0.342	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		7	39						7	39	---	---	---	---
TNFRSF10D	8793	broad.mit.edu	37	8	22995432	22995432	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:22995432delT	ENST00000312584.3	-	9	1206	c.1112delA	c.(1111-1113)aagfs	p.K371fs		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	371					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		ATAAAAGAGCTTTTCGGAGCC	0.483																																						ENST00000312584.3																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(1111-1113)agfs		tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain							89.0	76.0	80.0					8																	22995432		2203	4300	6503	SO:0001589	frameshift_variant	8793				anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity	g.chr8:22995432delT	AF029761	CCDS6038.1	8p21	2006-02-22			ENSG00000173530	ENSG00000173530		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11907	protein-coding gene	gene with protein product		603614				9382840, 9537512	Standard	NM_003840		Approved	DcR2, TRUNDD, TRAILR4, CD264	uc003xcz.2	Q9UBN6	OTTHUMG00000097845	ENST00000312584.3:c.1112delA	8.37:g.22995432delT	ENSP00000310263:p.Lys371fs						p.K371fs	NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)	9	1206	-		Prostate(55;0.0421)|Breast(100;0.067)	371					B2R8W0|Q9Y6Q4	Frame_Shift_Del	DEL	ENST00000312584.3	37	c.1112delA	CCDS6038.1																																																																																				0.483	TNFRSF10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215135.1			26	81						26	81	---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28210819	28210819	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:28210819delG	ENST00000344423.5	-	5	821	c.690delC	c.(688-690)cccfs	p.P230fs	ZNF395_ENST00000523095.1_Frame_Shift_Del_p.P230fs|ZNF395_ENST00000523202.1_Frame_Shift_Del_p.P230fs	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGGGGGGCGAGGGGGTGGAGA	0.622																																						ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(688-690)ccfs		zinc finger protein 395							16.0	19.0	18.0					8																	28210819		2203	4300	6503	SO:0001589	frameshift_variant	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28210819delG	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.690delC	8.37:g.28210819delG	ENSP00000340494:p.Pro230fs					ZNF395_ENST00000523202.1_Frame_Shift_Del_p.P230fs|ZNF395_ENST00000523095.1_Frame_Shift_Del_p.P230fs	p.P230fs	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	5	821	-		Ovarian(32;2.06e-05)	230					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Frame_Shift_Del	DEL	ENST00000344423.5	37	c.690delC	CCDS6067.1																																																																																				0.622	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			20	41						20	41	---	---	---	---
RB1CC1	9821	broad.mit.edu	37	8	53586705	53586705	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:53586705delC	ENST00000025008.5	-	7	1225	c.702delG	c.(700-702)atgfs	p.M234fs	RB1CC1_ENST00000539297.1_Frame_Shift_Del_p.M234fs|RB1CC1_ENST00000435644.2_Frame_Shift_Del_p.M234fs|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	234			M -> T (in dbSNP:rs17337252). {ECO:0000269|PubMed:11850849, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9039502}.		autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TGGATCTTTTCATCTCAGCTT	0.428																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(700-702)atfs		RB1-inducible coiled-coil 1							248.0	234.0	239.0					8																	53586705		2203	4300	6503	SO:0001589	frameshift_variant	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53586705delC	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.702delG	8.37:g.53586705delC	ENSP00000025008:p.Met234fs					RB1CC1_ENST00000435644.2_Frame_Shift_Del_p.M234fs|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Frame_Shift_Del_p.M234fs	p.M234fs	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			7	1225	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	234		M -> T (in dbSNP:rs17337252).			Q86YR4|Q8WVU9|Q92601	Frame_Shift_Del	DEL	ENST00000025008.5	37	c.702delG	CCDS34892.1																																																																																				0.428	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		20	321						20	321	---	---	---	---
TGS1	96764	broad.mit.edu	37	8	56711599	56711599	+	Frame_Shift_Del	DEL	A	A	-	rs375596621		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:56711599delA	ENST00000260129.5	+	8	2146	c.1669delA	c.(1669-1671)aaafs	p.K558fs		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	558					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CATGTCTGTTAAAAAAGGTGA	0.403																																					Esophageal Squamous(34;275 823 4842 34837 48447)	ENST00000260129.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1669-1671)aafs		trimethylguanosine synthase 1							136.0	119.0	125.0					8																	56711599		2203	4300	6503	SO:0001589	frameshift_variant	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56711599delA	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.1669delA	8.37:g.56711599delA	ENSP00000260129:p.Lys558fs						p.K558fs	NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		8	2146	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	558					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Frame_Shift_Del	DEL	ENST00000260129.5	37	c.1669delA	CCDS34894.1																																																																																				0.403	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		32	123						32	123	---	---	---	---
LYN	4067	broad.mit.edu	37	8	56863054	56863054	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:56863054delA	ENST00000519728.1	+	5	617	c.321delA	c.(319-321)acafs	p.T107fs	LYN_ENST00000520220.2_Frame_Shift_Del_p.T86fs	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	107	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	CCCTTTTAACAAAAAAAGAAG	0.378																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(256-258)acfs		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							203.0	204.0	203.0					8																	56863054		2203	4300	6503	SO:0001589	frameshift_variant	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56863054delA	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.321delA	8.37:g.56863054delA	ENSP00000428924:p.Thr107fs					LYN_ENST00000519728.1_Frame_Shift_Del_p.T107fs	p.T86fs	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		5	532	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	107			SH3.		A0AVQ5	Frame_Shift_Del	DEL	ENST00000519728.1	37	c.258delA	CCDS6162.1																																																																																				0.378	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		167	306						167	306	---	---	---	---
SGK3	23678	broad.mit.edu	37	8	67752238	67752239	+	Splice_Site	INS	-	-	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:67752238_67752239insT	ENST00000396596.1	+	11	956_957	c.742_743insT	c.(742-744)ctt>cTtt	p.L248fs	SGK3_ENST00000521198.2_Splice_Site_p.L248fs|SGK3_ENST00000522398.1_Splice_Site_p.L248fs|SGK3_ENST00000521435.1_3'UTR|C8orf44-SGK3_ENST00000519289.1_Splice_Site_p.L248fs|SGK3_ENST00000520976.1_Splice_Site_p.L248fs|SGK3_ENST00000345714.4_Splice_Site_p.L248fs	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	248	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AATTTGACAGCTTTTTTTCCAC	0.401																																						ENST00000396596.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18						c.e11-1		serum/glucocorticoid regulated kinase family, member 3																																				SO:0001630	splice_region_variant	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67752238_67752239insT		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.742-1->T	8.37:g.67752245_67752245dupT						SGK3_ENST00000520976.1_Splice_Site_p.F248_splice|SGK3_ENST00000521435.1_3'UTR|SGK3_ENST00000522398.1_Splice_Site_p.F248_splice|C8orf44-SGK3_ENST00000519289.1_Splice_Site_p.F248_splice|SGK3_ENST00000345714.4_Splice_Site_p.F248_splice|SGK3_ENST00000521198.2_Splice_Site_p.F248_splice	p.F248_splice	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		11	956_957	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	248			Protein kinase.		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Splice_Site	INS	ENST00000396596.1	37	c.741_splice	CCDS6195.1																																																																																				0.401	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3		Frame_Shift_Ins	18	111						18	111	---	---	---	---
SLCO5A1	81796	broad.mit.edu	37	8	70744246	70744246	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:70744246delG	ENST00000260126.4	-	2	1369	c.663delC	c.(661-663)cccfs	p.P221fs	RP11-159H10.3_ENST00000528800.2_RNA|RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000530307.1_Frame_Shift_Del_p.P221fs|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Frame_Shift_Del_p.P221fs	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.Y222fs*6(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGATCTGGTAGGGGGGCGAGA	0.677																																						ENST00000260126.3																			1	Deletion - Frameshift(1)	p.Y222fs*6(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(661-663)ccfs		solute carrier organic anion transporter family, member 5A1							22.0	26.0	25.0					8																	70744246		2203	4300	6503	SO:0001589	frameshift_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744246delG	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.663delC	8.37:g.70744246delG	ENSP00000260126:p.Pro221fs					SLCO5A1_ENST00000530307.1_Frame_Shift_Del_p.P221fs|SLCO5A1_ENST00000524945.1_Frame_Shift_Del_p.P221fs|SLCO5A1_ENST00000528658.1_5'UTR	p.P221fs	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1369	-	Breast(64;0.0654)		221					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Frame_Shift_Del	DEL	ENST00000260126.4	37	c.663delC	CCDS6205.1																																																																																				0.677	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		18	46						18	46	---	---	---	---
ZBTB10	65986	broad.mit.edu	37	8	81431473	81431473	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:81431473delA	ENST00000430430.1	+	7	3105	c.2326delA	c.(2326-2328)aaafs	p.K777fs	ZBTB10_ENST00000426744.2_Frame_Shift_Del_p.K753fs|ZBTB10_ENST00000455036.3_Frame_Shift_Del_p.K777fs|ZBTB10_ENST00000379091.4_Frame_Shift_Del_p.K485fs	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	777					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)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TAAAAAGGATAAAAAATACAA	0.338																																						ENST00000430430.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20						c.(2326-2328)aafs		zinc finger and BTB domain containing 10							92.0	85.0	87.0					8																	81431473		1848	4084	5932	SO:0001589	frameshift_variant	65986				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:81431473delA	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.2326delA	8.37:g.81431473delA	ENSP00000387462:p.Lys777fs					ZBTB10_ENST00000426744.2_Frame_Shift_Del_p.K753fs|ZBTB10_ENST00000379091.4_Frame_Shift_Del_p.K485fs|ZBTB10_ENST00000455036.3_Frame_Shift_Del_p.K777fs	p.K777fs	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		7	3105	+	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		777					A4FVD0|Q86W96|Q8IXI9|Q96MH9	Frame_Shift_Del	DEL	ENST00000430430.1	37	c.2326delA	CCDS47880.1																																																																																				0.338	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		17	62						17	62	---	---	---	---
SLC7A13	157724	broad.mit.edu	37	8	87229783	87229784	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:87229783_87229784insA	ENST00000297524.3	-	3	1197_1198	c.1094_1095insT	c.(1093-1095)ttcfs	p.F365fs	SLC7A13_ENST00000520624.1_5'Flank|SLC7A13_ENST00000419776.2_Frame_Shift_Ins_p.F356fs	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	365						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATGAACCCGTGAAAAAAATATA	0.337																																						ENST00000297524.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.(1093-1095)tacfs		solute carrier family 7 (anionic amino acid transporter), member 13																																				SO:0001589	frameshift_variant	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87229783_87229784insA	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1095dupT	8.37:g.87229790_87229790dupA	ENSP00000297524:p.Phe365fs					SLC7A13_ENST00000419776.2_Frame_Shift_Ins_p.Y356fs	p.Y365fs	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN			3	1197_1198	-			365					Q05C37|Q08AH9|Q96N84	Frame_Shift_Ins	INS	ENST00000297524.3	37	c.1094_1095insT	CCDS34917.1																																																																																				0.337	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		31	68						31	68	---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95531563	95531563	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:95531563delA	ENST00000297591.5	-	9	2238	c.2163delT	c.(2161-2163)tttfs	p.F721fs	KIAA1429_ENST00000421249.2_Frame_Shift_Del_p.F721fs|KIAA1429_ENST00000437199.1_Frame_Shift_Del_p.F721fs	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	721					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ATTCCGACATAAAAAAAAGAA	0.403																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(2161-2163)ttfs		KIAA1429							54.0	54.0	54.0					8																	95531563		2203	4300	6503	SO:0001589	frameshift_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95531563delA	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.2163delT	8.37:g.95531563delA	ENSP00000297591:p.Phe721fs					KIAA1429_ENST00000421249.2_Frame_Shift_Del_p.F721fs|KIAA1429_ENST00000437199.1_Frame_Shift_Del_p.F721fs	p.F721fs	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		9	2238	-	Breast(36;3.29e-05)		721					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Frame_Shift_Del	DEL	ENST00000297591.5	37	c.2163delT	CCDS34923.1																																																																																				0.403	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		25	77						25	77	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110476892	110476892	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:110476892delT	ENST00000378402.5	+	49	7935	c.7831delT	c.(7831-7833)tttfs	p.F2612fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2612					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTTGGCGAATTTTTTAACAA	0.443										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(7831-7833)ttfs		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							106.0	106.0	106.0					8																	110476892		1865	4109	5974	SO:0001589	frameshift_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110476892delT	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7831delT	8.37:g.110476892delT	ENSP00000367655:p.Phe2612fs	HNSCC(38;0.096)					p.F2612fs	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		49	7935	+			2612					Q567P2|Q9UF27	Frame_Shift_Del	DEL	ENST00000378402.5	37	c.7831delT	CCDS47911.1																																																																																				0.443	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		60	184						60	184	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116631857	116631857	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:116631857delG	ENST00000220888.5	-	2	588	c.429delC	c.(427-429)cccfs	p.P143fs	TRPS1_ENST00000395715.3_Frame_Shift_Del_p.P156fs|TRPS1_ENST00000520276.1_Frame_Shift_Del_p.P147fs|TRPS1_ENST00000519674.1_Frame_Shift_Del_p.P143fs|TRPS1_ENST00000519076.1_Frame_Shift_Del_p.P97fs			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	143					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGTCCCCTGAGGGGGTGCAGG	0.532									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(466-468)ccfs		trichorhinophalangeal syndrome I							72.0	72.0	72.0					8																	116631857		1942	4143	6085	SO:0001589	frameshift_variant	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116631857delG	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.429delC	8.37:g.116631857delG	ENSP00000220888:p.Pro143fs					TRPS1_ENST00000520276.1_Frame_Shift_Del_p.P147fs|TRPS1_ENST00000519674.1_Frame_Shift_Del_p.P143fs|TRPS1_ENST00000519076.1_Frame_Shift_Del_p.P97fs|TRPS1_ENST00000220888.5_Frame_Shift_Del_p.P143fs	p.P156fs	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	1045	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		143					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Frame_Shift_Del	DEL	ENST00000220888.5	37	c.468delC																																																																																					0.532	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		35	103						35	103	---	---	---	---
COL14A1	7373	broad.mit.edu	37	8	121259922	121259922	+	Frame_Shift_Del	DEL	C	C	-	rs61738288	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:121259922delC	ENST00000297848.3	+	21	2820	c.2550delC	c.(2548-2550)gacfs	p.D850fs	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Frame_Shift_Del_p.D850fs|COL14A1_ENST00000247781.3_Frame_Shift_Del_p.D755fs	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTACGTGGGACCCCCCATCTT	0.463																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(2548-2550)gafs		collagen, type XIV, alpha 1							109.0	98.0	102.0					8																	121259922		2203	4300	6503	SO:0001589	frameshift_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121259922delC		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2550delC	8.37:g.121259922delC	ENSP00000297848:p.Asp850fs					COL14A1_ENST00000309791.4_Frame_Shift_Del_p.D850fs|COL14A1_ENST00000247781.3_Frame_Shift_Del_p.D755fs|COL14A1_ENST00000432943.2_3'UTR	p.D850fs	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		21	2820	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		850			Fibronectin type-III 7.			Frame_Shift_Del	DEL	ENST00000297848.3	37	c.2550delC	CCDS34938.1																																																																																				0.463	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		46	128						46	128	---	---	---	---
FAM91A1	157769	broad.mit.edu	37	8	124796763	124796767	+	Frame_Shift_Del	DEL	ACTCT	ACTCT	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:124796763_124796767delACTCT	ENST00000334705.7	+	9	1003_1007	c.757_761delACTCT	c.(757-762)actctafs	p.TL253fs	FAM91A1_ENST00000521166.1_Frame_Shift_Del_p.TL253fs	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	253										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TTATTTTGAAACTCTACTCTATAAG	0.317																																						ENST00000334705.7																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(757-762)afs		family with sequence similarity 91, member A1																																				SO:0001589	frameshift_variant	157769							g.chr8:124796763_124796767delACTCT	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.757_761delACTCT	8.37:g.124796768_124796772delACTCT	ENSP00000335082:p.Thr253fs					FAM91A1_ENST00000521166.1_Frame_Shift_Del_p.TL253fs	p.TL253fs	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		9	1003_1007	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		253					B6YY23|Q658T5|Q8TE89	Frame_Shift_Del	DEL	ENST00000334705.7	37	c.757_761delACTCT	CCDS6346.2																																																																																				0.317	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		10	65						10	65	---	---	---	---
PUF60	22827	broad.mit.edu	37	8	144899293	144899295	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:144899293_144899295delAGG	ENST00000526683.1	-	11	1720_1722	c.1165_1167delCCT	c.(1165-1167)cctdel	p.P389del	PUF60_ENST00000453551.2_In_Frame_Del_p.P346del|SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000456095.2_In_Frame_Del_p.P360del|SCRIB_ENST00000356994.2_5'Flank|PUF60_ENST00000313352.7_In_Frame_Del_p.P329del|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000527197.1_In_Frame_Del_p.P343del|PUF60_ENST00000349157.6_In_Frame_Del_p.P372del|SCRIB_ENST00000320476.3_5'Flank	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	389	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGACCGGGATAGGAGGACGGGCT	0.631																																						ENST00000526683.1																			0				NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14						c.(1165-1167)del		poly-U binding splicing factor 60KDa																																				SO:0001651	inframe_deletion	22827				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr8:144899293_144899295delAGG	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.1165_1167delCCT	8.37:g.144899296_144899298delAGG	ENSP00000434359:p.Pro389del					PUF60_ENST00000453551.2_In_Frame_Del_p.P346del|PUF60_ENST00000527197.1_In_Frame_Del_p.P343del|PUF60_ENST00000349157.6_In_Frame_Del_p.P372del|PUF60_ENST00000313352.7_In_Frame_Del_p.P329del|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000456095.2_In_Frame_Del_p.P360del	p.P389del	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		11	1720_1722	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		389			Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	In_Frame_Del	DEL	ENST00000526683.1	37	c.1165_1167delCCT	CCDS47934.1																																																																																				0.631	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	NM_014281		11	24						11	24	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145006691	145006692	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145006691_145006692insA	ENST00000322810.4	-	16	2433_2434	c.2264_2265insT	c.(2263-2265)ttgfs	p.L755fs	PLEC_ENST00000345136.3_Frame_Shift_Ins_p.L618fs|PLEC_ENST00000356346.3_Frame_Shift_Ins_p.L604fs|PLEC_ENST00000354958.2_Frame_Shift_Ins_p.L596fs|PLEC_ENST00000354589.3_Frame_Shift_Ins_p.L618fs|PLEC_ENST00000527096.1_Frame_Shift_Ins_p.L641fs|PLEC_ENST00000436759.2_Frame_Shift_Ins_p.L645fs|PLEC_ENST00000357649.2_Frame_Shift_Ins_p.L622fs|PLEC_ENST00000398774.2_Frame_Shift_Ins_p.L586fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	755	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAAAGCTGTGCAAGCTCTCCAG	0.644																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(2263-2265)tcafs		plectin																																				SO:0001589	frameshift_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145006691_145006692insA	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2265dupT	8.37:g.145006693_145006693dupA	ENSP00000323856:p.Leu755fs					PLEC_ENST00000356346.3_Frame_Shift_Ins_p.S604fs|PLEC_ENST00000354589.3_Frame_Shift_Ins_p.S618fs|PLEC_ENST00000357649.2_Frame_Shift_Ins_p.S622fs|PLEC_ENST00000354958.2_Frame_Shift_Ins_p.S596fs|PLEC_ENST00000436759.2_Frame_Shift_Ins_p.S645fs|PLEC_ENST00000527096.1_Frame_Shift_Ins_p.S641fs|PLEC_ENST00000345136.3_Frame_Shift_Ins_p.S618fs|PLEC_ENST00000398774.2_Frame_Shift_Ins_p.S586fs	p.S755fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			16	2433_2434	-			755			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Frame_Shift_Ins	INS	ENST00000322810.4	37	c.2264_2265insT	CCDS43772.1																																																																																				0.644	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		76	122						76	122	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145024532	145024532	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145024532delG	ENST00000322810.4	-	1	512	c.343delC	c.(343-345)cacfs	p.H115fs	PLEC_ENST00000356346.3_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	115	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTGCACGTGGGGGGTGCGG	0.731																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(343-345)acfs		plectin							17.0	22.0	20.0					8																	145024532		1903	3999	5902	SO:0001589	frameshift_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145024532delG	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.343delC	8.37:g.145024532delG	ENSP00000323856:p.His115fs					PLEC_ENST00000356346.3_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron	p.H115fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			1	512	-			115			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Frame_Shift_Del	DEL	ENST00000322810.4	37	c.343delC	CCDS43772.1																																																																																				0.731	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		16	15						16	15	---	---	---	---
ARHGAP39	80728	broad.mit.edu	37	8	145806259	145806277	+	Frame_Shift_Del	DEL	CGCCGCGGGCCGCCCGGCC	CGCCGCGGGCCGCCCGGCC	-	rs117042905	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr8:145806259_145806277delCGCCGCGGGCCGCCCGGCC	ENST00000276826.5	-	2	666_684	c.465_483delGGCCGGGCGGCCCGCGGCG	c.(463-483)agggccgggcggcccgcggcgfs	p.RAGRPAA155fs	ARHGAP39_ENST00000540274.1_Frame_Shift_Del_p.RAGRPAA155fs|ARHGAP39_ENST00000377307.2_Frame_Shift_Del_p.RAGRPAA155fs			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	155					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CTGTCCCAAACGCCGCGGGCCGCCCGGCCCTCGCTGGCA	0.726																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(463-483)agfs		Rho GTPase activating protein 39																																				SO:0001589	frameshift_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145806259_145806277delCGCCGCGGGCCGCCCGGCC		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.465_483delGGCCGGGCGGCCCGCGGCG	8.37:g.145806259_145806277delCGCCGCGGGCCGCCCGGCC	ENSP00000276826:p.Arg155fs					ARHGAP39_ENST00000377307.2_Frame_Shift_Del_p.RAGRPAA155fs|ARHGAP39_ENST00000540274.1_Frame_Shift_Del_p.RAGRPAA155fs	p.RAGRPAA155fs			Q9C0H5	RHG39_HUMAN			2	666_684	-			155					B4E1I1	Frame_Shift_Del	DEL	ENST00000276826.5	37	c.465_483delGGCCGGGCGGCCCGCGGCG																																																																																					0.726	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			7	46						7	46	---	---	---	---
CNTLN	54875	broad.mit.edu	37	9	17462981	17462983	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:17462981_17462983delAAG	ENST00000380647.3	+	20	3458_3460	c.3374_3376delAAG	c.(3373-3378)aaagaa>aaa	p.E1127del	CNTLN_ENST00000262360.5_In_Frame_Del_p.E1127del|CNTLN_ENST00000425824.1_In_Frame_Del_p.E1127del			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1127					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CTCCTAGCAAAAGAAGAACACAT	0.32																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3373-3378)aaa>a		centlein, centrosomal protein				0,3524		0,0,1762						5.1	1.0			83	1,7813		0,1,3906	no	coding	CNTLN	NM_017738.2		0,1,5668	A1A1,A1R,RR		0.0128,0.0,0.0088				1,11337				SO:0001651	inframe_deletion	54875					centriole|membrane	two-component sensor activity	g.chr9:17462981_17462983delAAG	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3374_3376delAAG	9.37:g.17462984_17462986delAAG	ENSP00000370021:p.Glu1127del					CNTLN_ENST00000262360.5_In_Frame_Del_p.KE1125del|CNTLN_ENST00000425824.1_In_Frame_Del_p.KE1125del	p.KE1125del			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	20	3458_3460	+			1125					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	In_Frame_Del	DEL	ENST00000380647.3	37	c.3374_3376delAAG	CCDS43789.1																																																																																				0.320	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		9	56						9	56	---	---	---	---
DENND4C	55667	broad.mit.edu	37	9	19296163	19296164	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:19296163_19296164insT	ENST00000380432.2	+	2	284_285	c.251_252insT	c.(250-255)ccttttfs	p.PF84fs	DENND4C_ENST00000602925.1_Frame_Shift_Ins_p.PF320fs|DENND4C_ENST00000434457.2_Frame_Shift_Ins_p.PF320fs			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	84	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCACACTGGCCTTTTTTTGAAG	0.366																																						ENST00000380432.2																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(250-252)cttfs		DENN/MADD domain containing 4C																																				SO:0001589	frameshift_variant	55667					integral to membrane		g.chr9:19296163_19296164insT	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.258dupT	9.37:g.19296170_19296170dupT	ENSP00000369797:p.Pro84fs					DENND4C_ENST00000602925.1_Frame_Shift_Ins_p.L320fs|DENND4C_ENST00000307015.9_5'UTR|DENND4C_ENST00000434457.2_Frame_Shift_Ins_p.L320fs	p.L84fs	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN			2	284_285	+			84			DENN.		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Frame_Shift_Ins	INS	ENST00000380432.2	37	c.251_252insT																																																																																					0.366	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		28	133						28	133	---	---	---	---
FOCAD	54914	broad.mit.edu	37	9	20758147	20758147	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:20758147delT	ENST00000380249.1	+	8	815	c.451delT	c.(451-453)tttfs	p.F151fs	FOCAD_ENST00000338382.6_Frame_Shift_Del_p.F151fs	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	151						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											CTGGCCAGTGTTTTTGCAGCA	0.408																																						ENST00000380249.1																			0											c.(451-453)ttfs		focadhesin							106.0	94.0	98.0					9																	20758147		2203	4300	6503	SO:0001589	frameshift_variant	54914					integral to membrane	binding	g.chr9:20758147delT	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.451delT	9.37:g.20758147delT	ENSP00000369599:p.Phe151fs					FOCAD_ENST00000338382.6_Frame_Shift_Del_p.F151fs	p.F151fs	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			8	815	+			151					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Frame_Shift_Del	DEL	ENST00000380249.1	37	c.451delT	CCDS34993.1																																																																																				0.408	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		16	56						16	56	---	---	---	---
PTENP1	11191	broad.mit.edu	37	9	33675365	33675365	+	RNA	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:33675365delA	ENST00000532280.1	-	0	2132					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		TATTGCCATTAAAAAAAAAGG	0.323																																						ENST00000532280.1																			0																																																			11191							g.chr9:33675365delA	AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33675365delA								NR_023917.1						0	2132	-									RNA	DEL	ENST00000532280.1	37																																																																																						0.323	PTENP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395145.1	NR_023917		4	8						4	8	---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35043650	35043650	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:35043650delC	ENST00000312292.5	+	2	1071	c.1024delC	c.(1024-1026)cccfs	p.P343fs	C9orf131_ENST00000354479.5_Frame_Shift_Del_p.P270fs|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Frame_Shift_Del_p.P295fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	343										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TCCGATGCCACCCCCCTGCCA	0.527																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(1024-1026)ccfs		chromosome 9 open reading frame 131							183.0	209.0	200.0					9																	35043650		2203	4300	6503	SO:0001589	frameshift_variant	138724							g.chr9:35043650delC	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1024delC	9.37:g.35043650delC	ENSP00000308279:p.Pro343fs					C9orf131_ENST00000421362.2_Frame_Shift_Del_p.P295fs|C9orf131_ENST00000354479.5_Frame_Shift_Del_p.P270fs	p.P343fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	1071	+	all_epithelial(49;0.22)		343					A6NLE6|E9PB26|Q86XC6|Q9UF74	Frame_Shift_Del	DEL	ENST00000312292.5	37	c.1024delC	CCDS6572.2																																																																																				0.527	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		133	634						133	634	---	---	---	---
ZCCHC7	84186	broad.mit.edu	37	9	37357250	37357250	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:37357250delA	ENST00000336755.5	+	9	1723	c.1617delA	c.(1615-1617)agafs	p.R539fs	ZCCHC7_ENST00000534928.1_Frame_Shift_Del_p.R249fs|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	539			R -> K (in dbSNP:rs1051465).			cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		TTAAGCAGAGAAAAAAAAAGT	0.408																																						ENST00000336755.5																			0				central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30						c.(1615-1617)agfs		zinc finger, CCHC domain containing 7							40.0	48.0	45.0					9																	37357250		2203	4299	6502	SO:0001589	frameshift_variant	84186						nucleic acid binding|zinc ion binding	g.chr9:37357250delA	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.1617delA	9.37:g.37357250delA	ENSP00000337839:p.Arg539fs					ZCCHC7_ENST00000534928.1_Frame_Shift_Del_p.R249fs|ZCCHC7_ENST00000461038.1_3'UTR	p.R539fs	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	9	1723	+			539		R -> K (in dbSNP:rs1051465).			B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Frame_Shift_Del	DEL	ENST00000336755.5	37	c.1617delA	CCDS6608.2																																																																																				0.408	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		20	49						20	49	---	---	---	---
SPATA31D5P	347127	broad.mit.edu	37	9	84531279	84531279	+	RNA	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:84531279delA	ENST00000527857.1	+	0	1301					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		GAGACAAGTCAAAAAAAGGAG	0.393																																						ENST00000527857.1																			0																																																			347127							g.chr9:84531279delA			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84531279delA								NR_026851.1						0	1301	+									RNA	DEL	ENST00000527857.1	37																																																																																						0.393	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		4	9						4	9	---	---	---	---
KIF27	55582	broad.mit.edu	37	9	86523470	86523470	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:86523470delT	ENST00000297814.2	-	3	539	c.396delA	c.(394-396)aaafs	p.K132fs	KIF27_ENST00000334204.2_Frame_Shift_Del_p.K132fs|KIF27_ENST00000413982.1_Frame_Shift_Del_p.K132fs	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	132	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TATAAGATACTTTTACATTAA	0.378																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(394-396)aafs		kinesin family member 27							124.0	136.0	132.0					9																	86523470		2203	4300	6503	SO:0001589	frameshift_variant	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86523470delT	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.396delA	9.37:g.86523470delT	ENSP00000297814:p.Lys132fs					KIF27_ENST00000413982.1_Frame_Shift_Del_p.K132fs|KIF27_ENST00000334204.2_Frame_Shift_Del_p.K132fs	p.K132fs	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			3	539	-			132			Kinesin-motor.		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Frame_Shift_Del	DEL	ENST00000297814.2	37	c.396delA	CCDS6665.1																																																																																				0.378	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		46	127						46	127	---	---	---	---
FGD3	89846	broad.mit.edu	37	9	95738900	95738900	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:95738900delC	ENST00000375482.3	+	3	858	c.362delC	c.(361-363)accfs	p.T121fs	FGD3_ENST00000416701.2_Frame_Shift_Del_p.T121fs|FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000337352.6_Frame_Shift_Del_p.T121fs	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	121					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.Q123fs*10(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCGAAGGTCACCCCCCAGGAG	0.662																																						ENST00000375482.3																			2	Insertion - Frameshift(2)	p.Q123fs*10(2)	large_intestine(2)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(361-363)acfs		FYVE, RhoGEF and PH domain containing 3							22.0	30.0	27.0					9																	95738900		2072	4193	6265	SO:0001589	frameshift_variant	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95738900delC	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.362delC	9.37:g.95738900delC	ENSP00000364631:p.Thr121fs					FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000416701.2_Frame_Shift_Del_p.T121fs|FGD3_ENST00000337352.6_Frame_Shift_Del_p.T121fs	p.T121fs	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN			3	858	+			121					F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Frame_Shift_Del	DEL	ENST00000375482.3	37	c.362delC	CCDS43849.1																																																																																				0.662	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		18	45						18	45	---	---	---	---
ERCC6L2	375748	broad.mit.edu	37	9	98774880	98774880	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:98774880delT	ENST00000407474.3	+	4	1504	c.991delT	c.(991-993)tttfs	p.F332fs				Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	1362	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										AGAAGAGGTGTTTTTTAATGA	0.348																																						ENST00000407474.3																			0											c.(991-993)ttfs		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							50.0	57.0	55.0					9																	98774880		2203	4300	6503	SO:0001589	frameshift_variant	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98774880delT	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000407474.3:c.991delT	9.37:g.98774880delT	ENSP00000384365:p.Phe332fs						p.F332fs			Q5T890	RAD26_HUMAN			4	1504	+			67			Helicase ATP-binding.		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Frame_Shift_Del	DEL	ENST00000407474.3	37	c.991delT																																																																																					0.348	ERCC6L2-201	KNOWN	basic	protein_coding	protein_coding		NM_001010895		12	62						12	62	---	---	---	---
FKTN	2218	broad.mit.edu	37	9	108382270	108382270	+	Frame_Shift_Del	DEL	T	T	-	rs369386439		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:108382270delT	ENST00000223528.2	+	9	1224	c.1100delT	c.(1099-1101)gttfs	p.V367fs	FKTN_ENST00000448551.2_Frame_Shift_Del_p.V367fs|FKTN_ENST00000357998.5_Frame_Shift_Del_p.V367fs|FKTN_ENST00000540160.1_Intron|FKTN_ENST00000602661.1_Frame_Shift_Del_p.V367fs	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	367					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						AAACTTGATGTTTTTTTCTTC	0.348																																						ENST00000223528.2																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1099-1101)gtfs		fukutin							67.0	69.0	68.0					9																	108382270		2203	4298	6501	SO:0001589	frameshift_variant	2218				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	g.chr9:108382270delT		CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"""Fukuyama type congenital muscular dystrophy (fukutin)"""	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.1100delT	9.37:g.108382270delT	ENSP00000223528:p.Val367fs					FKTN_ENST00000357998.5_Frame_Shift_Del_p.V367fs|FKTN_ENST00000448551.2_Frame_Shift_Del_p.V367fs|FKTN_ENST00000602661.1_Frame_Shift_Del_p.V367fs|FKTN_ENST00000540160.1_Intron	p.V367fs	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN			9	1224	+			367					B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Frame_Shift_Del	DEL	ENST00000223528.2	37	c.1100delT	CCDS6766.1																																																																																				0.348	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053505.1	NM_006731		12	36						12	36	---	---	---	---
CNTRL	11064	broad.mit.edu	37	9	123921184	123921184	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:123921184delA	ENST00000373855.1	+	31	5076	c.4816delA	c.(4816-4818)aaafs	p.K1607fs	CNTRL_ENST00000238341.5_Frame_Shift_Del_p.K1607fs|CNTRL_ENST00000373850.1_Frame_Shift_Del_p.K1055fs|CNTRL_ENST00000373844.1_Frame_Shift_Del_p.K52fs|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1607					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GTTAGGGCATAAAAAGGAGGA	0.493																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(4816-4818)aafs		centriolin							146.0	148.0	147.0					9																	123921184		2203	4300	6503	SO:0001589	frameshift_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123921184delA	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4816delA	9.37:g.123921184delA	ENSP00000362962:p.Lys1607fs					CNTRL_ENST00000238341.5_Frame_Shift_Del_p.K1607fs|CNTRL_ENST00000373844.1_Frame_Shift_Del_p.K52fs|CNTRL_ENST00000373850.1_Frame_Shift_Del_p.K1055fs|CNTRL_ENST00000373845.2_3'UTR	p.K1607fs			Q7Z7A1	CNTRL_HUMAN			31	5076	+			1607					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Frame_Shift_Del	DEL	ENST00000373855.1	37	c.4816delA	CCDS35118.1																																																																																				0.493	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		47	161						47	161	---	---	---	---
TTF1	7270	broad.mit.edu	37	9	135277541	135277541	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:135277541delT	ENST00000334270.2	-	2	707	c.668delA	c.(667-669)aagfs	p.K225fs		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	225	Poly-Lys.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GGACTTTTTCTTTTTTTTCTT	0.493																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(667-669)agfs		transcription termination factor, RNA polymerase I							39.0	42.0	41.0					9																	135277541		2203	4300	6503	SO:0001589	frameshift_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277541delT	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.668delA	9.37:g.135277541delT	ENSP00000333920:p.Lys225fs						p.K225fs	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	707	-		Myeloproliferative disorder(178;0.204)	225			Poly-Lys.		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Frame_Shift_Del	DEL	ENST00000334270.2	37	c.668delA	CCDS6948.1																																																																																				0.493	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		13	46						13	46	---	---	---	---
TSC1	7248	broad.mit.edu	37	9	135786806	135786808	+	Intron	DEL	GAG	GAG	-	rs587778002		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:135786806_135786808delGAG	ENST00000298552.3	-	10	1251				TSC1_ENST00000545250.1_Intron|TSC1_ENST00000440111.2_Intron|TSC1_ENST00000403810.1_In_Frame_Del_p.P354del	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1						activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCAGAAAGCAGAGGAGAGAGCAG	0.468			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000403810.1			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	"""D, Mis, N, F, S"""	tuberous sclerosis 1 gene			"""E, O"""		"""hamartoma, renal cell"""			1	Unknown(1)	p.?(1)	bone(1)	NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65						c.(1060-1065)ctg>c		tuberous sclerosis 1																																				SO:0001627	intron_variant	7248	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135786806_135786808delGAG	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1029+31CTC>-	9.37:g.135786809_135786811delGAG						TSC1_ENST00000440111.2_Intron|TSC1_ENST00000298552.3_Intron|TSC1_ENST00000545250.1_Intron	p.PL354del			Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	10	1294_1296	-			359					B7Z897|Q5VVN5	In_Frame_Del	DEL	ENST00000298552.3	37	c.1061_1063delCTC	CCDS6956.1																																																																																				0.468	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			29	95						29	95	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137642390	137642390	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr9:137642390delC	ENST00000371817.3	+	12	1911	c.1497delC	c.(1495-1497)ggcfs	p.G499fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	499	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.P501fs*57(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTCTTCAGGGCCCCCCTGGAC	0.667																																						ENST00000371817.3																			1	Deletion - Frameshift(1)	p.P501fs*57(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1495-1497)ggfs		collagen, type V, alpha 1							46.0	51.0	50.0					9																	137642390		2203	4300	6503	SO:0001589	frameshift_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137642390delC	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1497delC	9.37:g.137642390delC	ENSP00000360882:p.Gly499fs						p.G499fs	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	12	1911	+		Myeloproliferative disorder(178;0.0341)	499			Interrupted collagenous region.		Q15094|Q5SUX4	Frame_Shift_Del	DEL	ENST00000371817.3	37	c.1497delC	CCDS6982.1																																																																																				0.667	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		27	79						27	79	---	---	---	---
TUBB8	347688	broad.mit.edu	37	10	93252	93252	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:93252delC	ENST00000309812.4	-	4	1142	c.1080delG	c.(1078-1080)gggfs	p.G360fs	TUBB8_ENST00000447903.2_Frame_Shift_Del_p.G288fs|TUBB8_ENST00000413237.3_5'Flank	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	360					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		ACATTTTTAGCCCCCGGGGTG	0.478																																					Pancreas(192;2041 3010 9013 18103)	ENST00000447903.2																			0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(862-864)ggfs		tubulin, beta 8 class VIII							81.0	92.0	88.0					10																	93252		2203	4299	6502	SO:0001589	frameshift_variant	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93252delC	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.1080delG	10.37:g.93252delC	ENSP00000311042:p.Gly360fs					TUBB8_ENST00000309812.4_Frame_Shift_Del_p.G360fs	p.G288fs			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	1179	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	360					Q5SQX9|Q8WZ78	Frame_Shift_Del	DEL	ENST00000309812.4	37	c.864delG	CCDS7051.1																																																																																				0.478	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		10	205						10	205	---	---	---	---
UPF2	26019	broad.mit.edu	37	10	12021070	12021070	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:12021070delC	ENST00000356352.2	-	8	2412	c.1939delG	c.(1939-1941)gatfs	p.D647fs	UPF2_ENST00000397053.2_Frame_Shift_Del_p.D647fs|UPF2_ENST00000357604.5_Frame_Shift_Del_p.D647fs			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	647	MIF4G 2.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AATCTGAAATCCCCCCTCAGC	0.353																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(1939-1941)atfs		UPF2 regulator of nonsense transcripts homolog (yeast)							83.0	74.0	77.0					10																	12021070		2203	4300	6503	SO:0001589	frameshift_variant	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12021070delC	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1939delG	10.37:g.12021070delC	ENSP00000348708:p.Asp647fs					UPF2_ENST00000357604.5_Frame_Shift_Del_p.D647fs|UPF2_ENST00000397053.2_Frame_Shift_Del_p.D647fs	p.D647fs			Q9HAU5	RENT2_HUMAN			8	2412	-		Renal(717;0.228)	647			MIF4G 2.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Frame_Shift_Del	DEL	ENST00000356352.2	37	c.1939delG	CCDS7086.1																																																																																				0.353	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			14	62						14	62	---	---	---	---
OPTN	10133	broad.mit.edu	37	10	13151192	13151192	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:13151192delC	ENST00000378748.3	+	4	432	c.70delC	c.(70-72)cccfs	p.P25fs	OPTN_ENST00000263036.5_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378764.2_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378747.3_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378752.3_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378757.2_Frame_Shift_Del_p.P25fs|OPTN_ENST00000482140.1_3'UTR	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	25					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGGAAATGGACCCCCCCACCT	0.557																																						ENST00000378748.3																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(70-72)ccfs		optineurin							89.0	89.0	89.0					10																	13151192		2203	4300	6503	SO:0001589	frameshift_variant	10133				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding	g.chr10:13151192delC	AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"""glaucoma 1, open angle, E (adult-onset)"""	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.70delC	10.37:g.13151192delC	ENSP00000368022:p.Pro25fs					OPTN_ENST00000378764.2_Frame_Shift_Del_p.P25fs|OPTN_ENST00000263036.5_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378757.2_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378752.3_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378747.3_Frame_Shift_Del_p.P25fs|OPTN_ENST00000482140.1_3'UTR	p.P25fs	NM_001008211.1|NM_001008213.1	NP_001008212.1|NP_001008214.1	Q96CV9	OPTN_HUMAN			4	432	+			25					B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Frame_Shift_Del	DEL	ENST00000378748.3	37	c.70delC	CCDS7094.1																																																																																				0.557	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046834.1	NM_021980		57	199						57	199	---	---	---	---
PTPLA	9200	broad.mit.edu	37	10	17636370	17636370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:17636370delA	ENST00000361271.3	-	6	655	c.618delT	c.(616-618)tttfs	p.F206fs		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	206					fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						ATAAGATGATAAAAAAATTAT	0.313																																						ENST00000361271.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						c.(616-618)ttfs		protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A							34.0	34.0	34.0					10																	17636370		2198	4291	6489	SO:0001589	frameshift_variant	9200				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity	g.chr10:17636370delA	AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.618delT	10.37:g.17636370delA	ENSP00000355308:p.Phe206fs						p.F206fs	NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN			6	655	-			206					B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Frame_Shift_Del	DEL	ENST00000361271.3	37	c.618delT	CCDS7121.1																																																																																				0.313	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241		13	52						13	52	---	---	---	---
PARD3	56288	broad.mit.edu	37	10	34666942	34666942	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:34666942delC	ENST00000374789.3	-	10	1817	c.1492delG	c.(1492-1494)gcgfs	p.A499fs	PARD3_ENST00000544292.1_Frame_Shift_Del_p.A229fs|PARD3_ENST00000374794.3_Frame_Shift_Del_p.A455fs|PARD3_ENST00000545260.1_Frame_Shift_Del_p.A455fs|PARD3_ENST00000374773.1_Frame_Shift_Del_p.A499fs|PARD3_ENST00000374776.1_Frame_Shift_Del_p.A499fs|PARD3_ENST00000545693.1_Frame_Shift_Del_p.A499fs|PARD3_ENST00000374790.3_Frame_Shift_Del_p.A455fs|PARD3_ENST00000340077.5_Frame_Shift_Del_p.A499fs|PARD3_ENST00000350537.4_Frame_Shift_Del_p.A499fs|PARD3_ENST00000346874.4_Frame_Shift_Del_p.A499fs|PARD3_ENST00000374788.3_Frame_Shift_Del_p.A499fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	499	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGAATGGCCGCCCCCCGGGGG	0.483																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(1492-1494)cgfs		par-3 family cell polarity regulator							88.0	97.0	94.0					10																	34666942		2203	4300	6503	SO:0001589	frameshift_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34666942delC	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1492delG	10.37:g.34666942delC	ENSP00000363921:p.Ala499fs					PARD3_ENST00000374776.1_Frame_Shift_Del_p.A499fs|PARD3_ENST00000350537.4_Frame_Shift_Del_p.A499fs|PARD3_ENST00000346874.4_Frame_Shift_Del_p.A499fs|PARD3_ENST00000374773.1_Frame_Shift_Del_p.A499fs|PARD3_ENST00000545693.1_Frame_Shift_Del_p.A499fs|PARD3_ENST00000340077.5_Frame_Shift_Del_p.A499fs|PARD3_ENST00000545260.1_Frame_Shift_Del_p.A455fs|PARD3_ENST00000374788.3_Frame_Shift_Del_p.A499fs|PARD3_ENST00000374790.3_Frame_Shift_Del_p.A455fs|PARD3_ENST00000544292.1_Frame_Shift_Del_p.A229fs|PARD3_ENST00000374794.3_Frame_Shift_Del_p.A455fs	p.A499fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			10	1817	-		Breast(68;0.0707)	499			PDZ 2.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Frame_Shift_Del	DEL	ENST00000374789.3	37	c.1492delG	CCDS7178.1																																																																																				0.483	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		49	177						49	177	---	---	---	---
FAM21EP	100421577	broad.mit.edu	37	10	51821328	51821328	+	RNA	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:51821328delG	ENST00000456967.1	-	0	1306					NR_038275.1																						CGGTCAGCTTGGGGGGTGCGA	0.517																																						ENST00000456967.1																			0																																																			100421577							g.chr10:51821328delG																													10.37:g.51821328delG								NR_038275.1						0	1306	-									RNA	DEL	ENST00000456967.1	37																																																																																						0.517	RP11-324H6.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000048059.1			10	229						10	229	---	---	---	---
FAM21EP	100421577	broad.mit.edu	37	10	51822385	51822385	+	RNA	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:51822385delA	ENST00000456967.1	-	0	1278					NR_038275.1																						GAATTCAGGGAAAAGGCCCAC	0.428																																						ENST00000456967.1																			0																																																			100421577							g.chr10:51822385delA																													10.37:g.51822385delA								NR_038275.1						0	1278	-									RNA	DEL	ENST00000456967.1	37																																																																																						0.428	RP11-324H6.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000048059.1			28	81						28	81	---	---	---	---
ZSWIM8	23053	broad.mit.edu	37	10	75553466	75553466	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:75553466delC	ENST00000605216.1	+	11	2651	c.2434delC	c.(2434-2436)cccfs	p.P813fs	ZSWIM8_ENST00000604729.1_Frame_Shift_Del_p.P813fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.P813fs|ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.P780fs|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.P813fs	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	813							zinc ion binding (GO:0008270)										GGTAGAGCCGCCCCCTGCCAA	0.632																																						ENST00000604729.1																			0											c.(2434-2436)ccfs		zinc finger, SWIM-type containing 8							63.0	68.0	66.0					10																	75553466		1956	4137	6093	SO:0001589	frameshift_variant	23053							g.chr10:75553466delC	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.2434delC	10.37:g.75553466delC	ENSP00000474748:p.Pro813fs					ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000603114.1_Frame_Shift_Del_p.P780fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Del_p.P813fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Del_p.P813fs|ZSWIM8_ENST00000605216.1_Frame_Shift_Del_p.P813fs	p.P813fs							11	2731	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Del	DEL	ENST00000605216.1	37	c.2434delC																																																																																					0.632	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		22	92						22	92	---	---	---	---
C10orf55	414236	broad.mit.edu	37	10	75673438	75673438	+	Intron	DEL	G	G	-	rs549461157	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:75673438delG	ENST00000409178.1	-	3	268				PLAU_ENST00000372762.4_Frame_Shift_Del_p.R165fs|PLAU_ENST00000446342.1_Frame_Shift_Del_p.R184fs|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Frame_Shift_Del_p.R201fs|C10orf55_ENST00000412307.2_Intron	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					AGGAGGCACCGGGGGGGCTCT	0.587																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.(550-552)cgfs		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)		,,	17,4245		5,7,2119					,,	2.0	0.9			66	27,8227		11,5,4111	no	frameshift,frameshift,intron	PLAU,C10orf55	NM_002658.3,NM_001145031.1,NM_001001791.2	,,	16,12,6230	A1A1,A1R,RR		0.3271,0.3989,0.3516	,,	,,		44,12472				SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673438delG		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-605C>-	10.37:g.75673438delG						C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Frame_Shift_Del_p.R201fs|PLAU_ENST00000372762.4_Frame_Shift_Del_p.R165fs|C10orf55_ENST00000412307.2_Intron	p.R184fs	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			6	1033	+	Prostate(51;0.0112)		201			Peptidase S1.		Q3KRG4|Q8NAK4	Frame_Shift_Del	DEL	ENST00000409178.1	37	c.551delG	CCDS53541.1																																																																																				0.587	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		48	191						48	191	---	---	---	---
STAMBPL1	57559	broad.mit.edu	37	10	90682146	90682146	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:90682146delA	ENST00000371926.3	+	10	2165	c.1207delA	c.(1207-1209)aaafs	p.K405fs	STAMBPL1_ENST00000371924.1_Frame_Shift_Del_p.K405fs|STAMBPL1_ENST00000371927.3_Frame_Shift_Del_p.K405fs|STAMBPL1_ENST00000371922.1_Frame_Shift_Del_p.K239fs	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	405						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TTCTGCTTGTAAAAAAAAGGG	0.423																																						ENST00000371927.3																			0				breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11						c.(1207-1209)aafs		STAM binding protein-like 1							101.0	94.0	96.0					10																	90682146		2203	4300	6503	SO:0001589	frameshift_variant	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90682146delA	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"""associated molecule with the SH3 domain of STAM (AMSH) like protein"", ""associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"""	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.1207delA	10.37:g.90682146delA	ENSP00000360994:p.Lys405fs					STAMBPL1_ENST00000371926.3_Frame_Shift_Del_p.K405fs|STAMBPL1_ENST00000371924.1_Frame_Shift_Del_p.K405fs|STAMBPL1_ENST00000371922.1_Frame_Shift_Del_p.K239fs	p.K405fs			Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	10	2165	+		Colorectal(252;0.0381)	405					B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Frame_Shift_Del	DEL	ENST00000371926.3	37	c.1207delA	CCDS7391.1																																																																																				0.423	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		45	46						45	46	---	---	---	---
HTR7	3363	broad.mit.edu	37	10	92502258	92502258	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:92502258delT	ENST00000336152.3	-	4	1447	c.1421delA	c.(1420-1422)aagfs	p.K474fs	HTR7_ENST00000371721.3_Frame_Shift_Del_p.K474fs|HTR7_ENST00000277874.6_Frame_Shift_Del_p.K441fs|HTR7_ENST00000371719.2_3'UTR	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	474					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	AATCATGACCTTTTTTTCTAC	0.328																																						ENST00000371721.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1420-1422)agfs		5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						211.0	170.0	184.0					10																	92502258		2199	4300	6499	SO:0001589	frameshift_variant	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92502258delT	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1421delA	10.37:g.92502258delT	ENSP00000337949:p.Lys474fs					HTR7_ENST00000277874.6_Frame_Shift_Del_p.K441fs|HTR7_ENST00000336152.3_Frame_Shift_Del_p.K474fs|HTR7_ENST00000371719.2_3'UTR	p.K474fs			P34969	5HT7R_HUMAN			4	1663	-			474					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Frame_Shift_Del	DEL	ENST00000336152.3	37	c.1421delA	CCDS7408.1																																																																																				0.328	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		13	46						13	46	---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98292810	98292810	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:98292810delT	ENST00000371142.4	-	10	1539	c.1323delA	c.(1321-1323)aaafs	p.K441fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	441						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		CTCTTTACCATTTTTTCTCCG	0.378																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(1321-1323)aafs		transmembrane 9 superfamily member 3							123.0	114.0	117.0					10																	98292810		2203	4300	6503	SO:0001589	frameshift_variant	56889					integral to membrane	binding	g.chr10:98292810delT	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.1323delA	10.37:g.98292810delT	ENSP00000360184:p.Lys441fs						p.K441fs	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	10	1539	-		Colorectal(252;0.158)	441					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Frame_Shift_Del	DEL	ENST00000371142.4	37	c.1323delA	CCDS7450.1																																																																																				0.378	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		41	129						41	129	---	---	---	---
PAX2	5076	broad.mit.edu	37	10	102587324	102587324	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:102587324delC	ENST00000428433.1	+	11	1752	c.1202delC	c.(1201-1203)gccfs	p.A401fs	PAX2_ENST00000370296.2_3'UTR|PAX2_ENST00000556085.1_Frame_Shift_Del_p.A377fs|PAX2_ENST00000361791.3_3'UTR|PAX2_ENST00000355243.3_Frame_Shift_Del_p.A378fs	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	401					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|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)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TATAGTGCCGCCCCCCGGGGC	0.572																																						ENST00000428433.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1201-1203)gcfs		paired box 2							50.0	55.0	54.0					10																	102587324		1814	4076	5890	SO:0001589	frameshift_variant	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102587324delC		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.1202delC	10.37:g.102587324delC	ENSP00000396259:p.Ala401fs					PAX2_ENST00000556085.1_Frame_Shift_Del_p.A377fs|PAX2_ENST00000355243.3_Frame_Shift_Del_p.A378fs|PAX2_ENST00000370296.2_3'UTR|PAX2_ENST00000361791.3_3'UTR	p.A401fs	NM_003987.3|NM_003990.3	NP_003978.2|NP_003981.2	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	11	1752	+		Colorectal(252;0.234)	401					Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Frame_Shift_Del	DEL	ENST00000428433.1	37	c.1202delC	CCDS53569.1																																																																																				0.572	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				31	122						31	122	---	---	---	---
NT5C2	22978	broad.mit.edu	37	10	104857078	104857081	+	Frame_Shift_Del	DEL	AAGA	AAGA	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:104857078_104857081delAAGA	ENST00000404739.3	-	9	761_764	c.738_741delTCTT	c.(736-741)tttcttfs	p.FL246fs	NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Frame_Shift_Del_p.FL217fs|NT5C2_ENST00000343289.5_Frame_Shift_Del_p.FL246fs			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	246					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	TGTTGGTAGCAAGAAATACTTTCC	0.343																																						ENST00000343289.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16						c.(736-741)ttfs		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)																																			SO:0001589	frameshift_variant	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104857078_104857081delAAGA	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.738_741delTCTT	10.37:g.104857078_104857081delAAGA	ENSP00000383960:p.Phe246fs					NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Frame_Shift_Del_p.FL217fs|NT5C2_ENST00000404739.3_Frame_Shift_Del_p.FL246fs	p.FL246fs	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	10	825_828	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	246					B7Z382|D3DR91|Q5JUV5	Frame_Shift_Del	DEL	ENST00000404739.3	37	c.738_741delTCTT	CCDS7544.1																																																																																				0.343	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		24	106						24	106	---	---	---	---
SH3PXD2A	9644	broad.mit.edu	37	10	105363391	105363391	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:105363391delG	ENST00000369774.4	-	15	1860	c.1584delC	c.(1582-1584)cccfs	p.P528fs	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Frame_Shift_Del_p.P395fs|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Frame_Shift_Del_p.P363fs|SH3PXD2A_ENST00000355946.2_Frame_Shift_Del_p.P500fs			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	528					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)	p.S501fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TGGGCTTGCTGGGGGGTGCTG	0.667																																						ENST00000369774.4																			1	Deletion - Frameshift(1)	p.S501fs*43(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(1582-1584)ccfs		SH3 and PX domains 2A							31.0	36.0	34.0					10																	105363391		2202	4300	6502	SO:0001589	frameshift_variant	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105363391delG	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1584delC	10.37:g.105363391delG	ENSP00000358789:p.Pro528fs					SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Frame_Shift_Del_p.P363fs|SH3PXD2A_ENST00000355946.2_Frame_Shift_Del_p.P500fs|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Frame_Shift_Del_p.P395fs	p.P528fs			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	1860	-		Colorectal(252;0.0815)|Breast(234;0.131)	528					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Frame_Shift_Del	DEL	ENST00000369774.4	37	c.1584delC																																																																																					0.667	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		27	62						27	62	---	---	---	---
ADD3	120	broad.mit.edu	37	10	111893350	111893350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:111893350delA	ENST00000356080.4	+	15	2462	c.2095delA	c.(2095-2097)aaafs	p.K701fs	ADD3_ENST00000277900.8_Frame_Shift_Del_p.K669fs|ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	701	Interaction with calmodulin. {ECO:0000255}.					cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GAAAAAGAACAAAAAAAAGGA	0.333																																						ENST00000277900.8																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29						c.(1999-2001)aafs		adducin 3 (gamma)							51.0	59.0	56.0					10																	111893350		2198	4295	6493	SO:0001589	frameshift_variant	120					cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	g.chr10:111893350delA	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.2095delA	10.37:g.111893350delA	ENSP00000348381:p.Lys701fs					ADD3_ENST00000356080.4_Frame_Shift_Del_p.K701fs|ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs	p.K669fs	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	14	2364	+		Breast(234;0.052)|Lung NSC(174;0.223)	701					D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Frame_Shift_Del	DEL	ENST00000356080.4	37	c.1999delA	CCDS7561.1																																																																																				0.333	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		34	125						34	125	---	---	---	---
TECTB	6975	broad.mit.edu	37	10	114045891	114045891	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:114045891delA	ENST00000369422.3	+	3	330	c.330delA	c.(328-330)gtafs	p.V110fs		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	110	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		CAGTGATTGTAAAAAACCAGC	0.473																																						ENST00000369422.3																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(328-330)gtfs		tectorin beta							194.0	152.0	166.0					10																	114045891		2203	4300	6503	SO:0001589	frameshift_variant	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114045891delA	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.330delA	10.37:g.114045891delA	ENSP00000358430:p.Val110fs						p.V110fs	NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	3	330	+		Colorectal(252;0.198)	110			ZP.		Q5VW53	Frame_Shift_Del	DEL	ENST00000369422.3	37	c.330delA	CCDS7571.1																																																																																				0.473	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		20	115						20	115	---	---	---	---
CASP7	840	broad.mit.edu	37	10	115485283	115485285	+	In_Frame_Del	DEL	TCT	TCT	-	rs141266925	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:115485283_115485285delTCT	ENST00000345633.4	+	6	923_925	c.539_541delTCT	c.(538-543)ctcttc>ctc	p.F182del	CASP7_ENST00000369315.1_In_Frame_Del_p.F182del|CASP7_ENST00000369318.3_In_Frame_Del_p.F182del|CASP7_ENST00000452490.2_In_Frame_Del_p.F157del|CASP7_ENST00000369321.2_In_Frame_Del_p.F215del|CASP7_ENST00000369331.4_Intron	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	182					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		AAACCCAAACTCTTCTTCATTCA	0.394																																						ENST00000369321.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8						c.(637-642)ctc>c		caspase 7, apoptosis-related cysteine peptidase																																				SO:0001651	inframe_deletion	840				activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr10:115485283_115485285delTCT	U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"""Caspases"""	1508	protein-coding gene	gene with protein product		601761	"""caspase 7, apoptosis-related cysteine protease"""			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.539_541delTCT	10.37:g.115485286_115485288delTCT	ENSP00000298701:p.Phe182del					CASP7_ENST00000369331.4_Intron|CASP7_ENST00000452490.2_In_Frame_Del_p.LF155del|CASP7_ENST00000369318.3_In_Frame_Del_p.LF180del|CASP7_ENST00000345633.4_In_Frame_Del_p.LF180del|CASP7_ENST00000369315.1_In_Frame_Del_p.LF180del	p.LF213del	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN		Epithelial(162;0.012)|all cancers(201;0.014)	6	958_960	+		Colorectal(252;0.0946)|Breast(234;0.188)	180					B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	In_Frame_Del	DEL	ENST00000345633.4	37	c.638_640delTCT	CCDS7581.1																																																																																				0.394	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050439.1	NM_033338		19	51						19	51	---	---	---	---
DCLRE1A	9937	broad.mit.edu	37	10	115609831	115609832	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:115609831_115609832insA	ENST00000361384.2	-	2	1949_1950	c.1032_1033insT	c.(1030-1035)tttaaafs	p.K345fs	DCLRE1A_ENST00000369305.1_Frame_Shift_Ins_p.K345fs	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	345					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGTCGTTTTTTAAAAAAACCAC	0.406								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1030-1035)ttaaaafs	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A				1,4263		0,1,2131						-2.3	0.0			106	1,8253		0,1,4126	no	frameshift	DCLRE1A	NM_014881.3		0,2,6257	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12516				SO:0001589	frameshift_variant	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115609831_115609832insA		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1033dupT	10.37:g.115609838_115609838dupA	ENSP00000355185:p.Lys345fs					DCLRE1A_ENST00000369305.1_Frame_Shift_Ins_p.L344fs	p.L344fs	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	1949_1950	-			344					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Frame_Shift_Ins	INS	ENST00000361384.2	37	c.1032_1033insT	CCDS7584.1																																																																																				0.406	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		29	129						29	129	---	---	---	---
BAG3	9531	broad.mit.edu	37	10	121431867	121431867	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:121431867delG	ENST00000369085.3	+	3	914	c.608delG	c.(607-609)cggfs	p.R203fs		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	203					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		CAGCTCCCGCGGGGGTACATC	0.652																																						ENST00000369085.3																			0				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(607-609)cgfs		BCL2-associated athanogene 3							58.0	59.0	59.0					10																	121431867		2203	4300	6503	SO:0001589	frameshift_variant	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121431867delG	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.608delG	10.37:g.121431867delG	ENSP00000358081:p.Arg203fs						p.R203fs	NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	3	914	+		Lung NSC(174;0.109)|all_lung(145;0.142)	203					A8K5L8|Q3B763|Q9NT20|Q9P120	Frame_Shift_Del	DEL	ENST00000369085.3	37	c.608delG	CCDS7615.1																																																																																				0.652	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		35	121						35	121	---	---	---	---
GPR26	2849	broad.mit.edu	37	10	125447486	125447486	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr10:125447486delG	ENST00000284674.1	+	3	877	c.824delG	c.(823-825)tggfs	p.W275fs		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	275					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GGCTCCCACTGGGGGGTGCTG	0.582																																						ENST00000284674.1																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20						c.(823-825)tgfs		G protein-coupled receptor 26							71.0	65.0	67.0					10																	125447486		2203	4300	6503	SO:0001589	frameshift_variant	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125447486delG		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.824delG	10.37:g.125447486delG	ENSP00000284674:p.Trp275fs						p.W275fs	NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN			3	877	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	275					Q2M2E2	Frame_Shift_Del	DEL	ENST00000284674.1	37	c.824delG	CCDS7636.1																																																																																				0.582	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			26	112						26	112	---	---	---	---
PKP3	11187	broad.mit.edu	37	11	404002	404002	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:404002delC	ENST00000331563.2	+	11	2213	c.2137delC	c.(2137-2139)cccfs	p.P714fs		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	714					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGAGAAGTCGCCCCCAGCCGA	0.642																																						ENST00000331563.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(2137-2139)ccfs		plakophilin 3							41.0	46.0	44.0					11																	404002		2182	4283	6465	SO:0001589	frameshift_variant	11187				cell adhesion	desmosome|nucleus	binding	g.chr11:404002delC	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.2137delC	11.37:g.404002delC	ENSP00000331678:p.Pro714fs						p.P714fs	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	11	2213	+		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	714					F8J390|Q53EX8	Frame_Shift_Del	DEL	ENST00000331563.2	37	c.2137delC	CCDS7695.1																																																																																				0.642	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		25	63						25	63	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1268066	1268066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1268066delC	ENST00000529681.1	+	31	10014	c.9956delC	c.(9955-9957)accfs	p.T3319fs	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Frame_Shift_Del_p.T3322fs	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3319	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTCACAGCCACCCCCTCCTCC	0.647																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(9964-9966)acfs		mucin 5B, oligomeric mucus/gel-forming							15.0	28.0	24.0					11																	1268066		1772	4007	5779	SO:0001589	frameshift_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268066delC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9956delC	11.37:g.1268066delC	ENSP00000436812:p.Thr3319fs					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Frame_Shift_Del_p.T3319fs	p.T3322fs			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10023	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3319	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Frame_Shift_Del	DEL	ENST00000529681.1	37	c.9965delC	CCDS44515.2																																																																																				0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		45	107						45	107	---	---	---	---
CTSD	1509	broad.mit.edu	37	11	1780830	1780830	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1780830delG	ENST00000236671.2	-	3	400	c.268delC	c.(268-270)cagfs	p.Q90fs	RP11-295K3.1_ENST00000427721.1_5'Flank|AC068580.6_ENST00000449248.1_RNA	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	90					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)	p.Q90fs*50(1)		endometrium(1)|large_intestine(4)|lung(8)	13		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;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GTGAAGCACTGGGGGGGCGTC	0.647																																						ENST00000236671.2																			1	Insertion - Frameshift(1)	p.Q90fs*50(1)	large_intestine(1)	endometrium(1)|large_intestine(4)|lung(8)	13						c.(268-270)agfs		cathepsin D	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						56.0	56.0	56.0					11																	1780830		2201	4299	6500	SO:0001589	frameshift_variant	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1780830delG	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.268delC	11.37:g.1780830delG	ENSP00000236671:p.Gln90fs						p.Q90fs	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	3	400	-		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)	90					Q6IB57	Frame_Shift_Del	DEL	ENST00000236671.2	37	c.268delC	CCDS7725.1																																																																																				0.647	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		19	81						19	81	---	---	---	---
TNNI2	7136	broad.mit.edu	37	11	1862091	1862093	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:1862091_1862093delGAG	ENST00000381906.1	+	6	298_300	c.229_231delGAG	c.(229-231)gagdel	p.E78del	TNNI2_ENST00000252898.7_In_Frame_Del_p.E78del|TNNI2_ENST00000381905.3_In_Frame_Del_p.E78del|TNNI2_ENST00000381911.1_In_Frame_Del_p.E78del	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	78					muscle filament sliding (GO:0030049)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|nucleus (GO:0005634)|troponin complex (GO:0005861)	troponin T binding (GO:0031014)			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCGGCTGAAGAGGAGAAGTACG	0.68																																						ENST00000381906.1																			0				lung(8)|prostate(1)|urinary_tract(1)	10						c.(229-231)del		troponin I type 2 (skeletal, fast)			,,	1,4259		0,1,2129					,,	0.7	1.0			62	2,8248		1,0,4124	no	coding,coding,coding	TNNI2	NM_003282.3,NM_001145841.1,NM_001145829.1	,,	1,1,6253	A1A1,A1R,RR		0.0242,0.0235,0.024	,,	,,		3,12507				SO:0001651	inframe_deletion	7136				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding	g.chr11:1862091_1862093delGAG	L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598			11946	protein-coding gene	gene with protein product	"""troponin I, fast-twitch skeletal muscle isoform"", ""troponin I fast twitch 2"""	191043	"""troponin I, skeletal, fast"", ""arthrogryposis multiplex congenita, distal, type 2B"""	AMCD2B		9016781, 12592607	Standard	NM_001145829		Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.229_231delGAG	11.37:g.1862094_1862096delGAG	ENSP00000371331:p.Glu78del					TNNI2_ENST00000381911.1_In_Frame_Del_p.E78del|TNNI2_ENST00000252898.7_In_Frame_Del_p.E78del|TNNI2_ENST00000381905.3_In_Frame_Del_p.E78del	p.E78del	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	6	298_300	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	78					A6NIV8|A6NJU5	In_Frame_Del	DEL	ENST00000381906.1	37	c.229_231delGAG	CCDS31333.1																																																																																				0.680	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034046.2	NM_003282		17	47						17	47	---	---	---	---
TRIM34	53840	broad.mit.edu	37	11	5653492	5653492	+	5'UTR	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:5653492delG	ENST00000514226.1	+	0	268				TRIM6-TRIM34_ENST00000457787.2_5'Flank|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_5'UTR|TRIM6-TRIM34_ENST00000354852.5_Frame_Shift_Del_p.Q331fs	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34						positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCCATCCAGGGGTCTTTAA	0.438											OREG0003725	type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000354852.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33						c.(991-993)cafs									60.0	62.0	62.0					11																	5653492		2201	4297	6498	SO:0001623	5_prime_UTR_variant	445372					intracellular	zinc ion binding	g.chr11:5653492delG	AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.-70G>-	11.37:g.5653492delG			OREG0003725	type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	628	TRIM34_ENST00000514226.1_5'UTR|TRIM34_ENST00000429814.2_5'UTR|HBG2_ENST00000380259.2_Intron	p.Q331fs	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)	8	1166	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	331					D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Frame_Shift_Del	DEL	ENST00000514226.1	37	c.993delG	CCDS31391.1																																																																																				0.438	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827		10	124						10	124	---	---	---	---
RIC3	79608	broad.mit.edu	37	11	8161539	8161539	+	Frame_Shift_Del	DEL	A	A	-	rs267603218		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:8161539delA	ENST00000309737.6	-	2	325	c.326delT	c.(325-327)ttafs	p.L109fs	RIC3_ENST00000335425.7_Intron|RIC3_ENST00000343202.4_Frame_Shift_Del_p.L109fs|RIC3_ENST00000539720.1_Frame_Shift_Del_p.L60fs|RIC3_ENST00000425599.2_Frame_Shift_Del_p.L109fs|RIC3_ENST00000419822.2_Frame_Shift_Del_p.L109fs|RIC3_ENST00000530060.1_5'Flank			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	109					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CAGTATATATAAAAAAATCCC	0.353																																						ENST00000343202.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17						c.(325-327)tafs		RIC3 acetylcholine receptor chaperone							64.0	76.0	72.0					11																	8161539		2201	4296	6497	SO:0001589	frameshift_variant	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8161539delA		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.326delT	11.37:g.8161539delA	ENSP00000308820:p.Leu109fs					RIC3_ENST00000425599.2_Frame_Shift_Del_p.L109fs|RIC3_ENST00000309737.6_Frame_Shift_Del_p.L109fs|RIC3_ENST00000539720.1_Frame_Shift_Del_p.L60fs|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000419822.2_Frame_Shift_Del_p.L109fs	p.L109fs	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	2	391	-			109					B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Frame_Shift_Del	DEL	ENST00000309737.6	37	c.326delT	CCDS55742.1																																																																																				0.353	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		13	74						13	74	---	---	---	---
SPTY2D1	144108	broad.mit.edu	37	11	18636367	18636367	+	Frame_Shift_Del	DEL	G	G	-	rs370983685		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:18636367delG	ENST00000336349.5	-	3	1689	c.1454delC	c.(1453-1455)ccgfs	p.P485fs	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	485	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						AGACCGCCCCGGGGGGCCCAA	0.597																																						ENST00000336349.5																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(1453-1455)cgfs		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)							26.0	29.0	28.0					11																	18636367		2198	4292	6490	SO:0001589	frameshift_variant	144108							g.chr11:18636367delG	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.1454delC	11.37:g.18636367delG	ENSP00000337991:p.Pro485fs						p.P485fs	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN			3	1689	-			485			Ser-rich.		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Frame_Shift_Del	DEL	ENST00000336349.5	37	c.1454delC	CCDS31441.1																																																																																				0.597	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		17	69						17	69	---	---	---	---
API5	8539	broad.mit.edu	37	11	43364020	43364020	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:43364020delG	ENST00000531273.1	+	14	1674	c.1535delG	c.(1534-1536)tggfs	p.W512fs	API5_ENST00000378852.3_3'UTR|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000455725.2_Frame_Shift_Del_p.W501fs|API5_ENST00000420461.2_3'UTR|API5_ENST00000534695.1_Intron			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	512					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GGCCGAGGTTGGGGCACACGA	0.463																																					Pancreas(1;98 122 5625 20895 49453)	ENST00000455725.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(1501-1503)tgfs		apoptosis inhibitor 5							94.0	88.0	90.0					11																	43364020		2203	4300	6503	SO:0001589	frameshift_variant	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43364020delG	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.1535delG	11.37:g.43364020delG	ENSP00000431391:p.Trp512fs					API5_ENST00000420461.2_3'UTR|API5_ENST00000534695.1_Intron|API5_ENST00000378852.3_3'UTR|API5_ENST00000531273.1_Frame_Shift_Del_p.W512fs|RP11-484D2.2_ENST00000526220.1_RNA	p.W501fs			Q9BZZ5	API5_HUMAN			15	1747	+			0					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Frame_Shift_Del	DEL	ENST00000531273.1	37	c.1502delG	CCDS44572.1																																																																																				0.463	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		22	98						22	98	---	---	---	---
CHRM4	1132	broad.mit.edu	37	11	46407278	46407278	+	Frame_Shift_Del	DEL	G	G	-	rs201805055		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:46407278delG	ENST00000433765.2	-	1	829	c.830delC	c.(829-831)ccgfs	p.P278fs		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	278					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CAGCGCTGGCGGGGGGGCCTC	0.672																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	ENST00000433765.2																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20						c.(829-831)cgfs		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)																																			SO:0001589	frameshift_variant	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407278delG	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.830delC	11.37:g.46407278delG	ENSP00000409378:p.Pro278fs						p.P278fs	NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	829	-			278					B2RPP4|Q0VD60|Q4VBK7	Frame_Shift_Del	DEL	ENST00000433765.2	37	c.830delC	CCDS44581.1																																																																																				0.672	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		11	31						11	31	---	---	---	---
AGBL2	79841	broad.mit.edu	37	11	47684631	47684631	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:47684631delG	ENST00000525123.1	-	18	2767	c.2482delC	c.(2482-2484)ctgfs	p.L828fs	AGBL2_ENST00000298861.4_Frame_Shift_Del_p.L828fs|AGBL2_ENST00000357610.3_Frame_Shift_Del_p.L830fs	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	828						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GATGGGTCCAGGGGGGTGTCT	0.358																																						ENST00000525123.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(2482-2484)tgfs		ATP/GTP binding protein-like 2							119.0	127.0	125.0					11																	47684631		2201	4298	6499	SO:0001589	frameshift_variant	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47684631delG		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.2482delC	11.37:g.47684631delG	ENSP00000435582:p.Leu828fs					AGBL2_ENST00000357610.3_Frame_Shift_Del_p.L830fs|AGBL2_ENST00000298861.4_Frame_Shift_Del_p.L828fs	p.L828fs	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			18	2767	-			828					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Frame_Shift_Del	DEL	ENST00000525123.1	37	c.2482delC	CCDS7944.1																																																																																				0.358	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		48	165						48	165	---	---	---	---
OR4D10	390197	broad.mit.edu	37	11	59245082	59245082	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:59245082delT	ENST00000530162.1	+	1	237	c.180delT	c.(178-180)tatfs	p.Y60fs		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	60						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)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCCCATGTATTTTTTGCTCC	0.438																																						ENST00000530162.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(178-180)tafs		olfactory receptor, family 4, subfamily D, member 10							190.0	194.0	192.0					11																	59245082		2120	4256	6376	SO:0001589	frameshift_variant	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245082delT	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.180delT	11.37:g.59245082delT	ENSP00000436424:p.Tyr60fs						p.Y60fs	NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN			1	237	+			60					B2RNH6	Frame_Shift_Del	DEL	ENST00000530162.1	37	c.180delT	CCDS53636.1																																																																																				0.438	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		59	231						59	231	---	---	---	---
MTA2	9219	broad.mit.edu	37	11	62362913	62362914	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:62362913_62362914delGA	ENST00000278823.2	-	14	1694_1695	c.1305_1306delTC	c.(1303-1308)tctcctfs	p.P436fs	MTA2_ENST00000524902.1_Frame_Shift_Del_p.P263fs|MTA2_ENST00000527204.1_Frame_Shift_Del_p.P263fs	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	436					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GTTGTGTAAGGAGAGAGACTTT	0.505																																						ENST00000278823.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						c.(1303-1308)tcctfs		metastasis associated 1 family, member 2																																				SO:0001589	frameshift_variant	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62362913_62362914delGA	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1305_1306delTC	11.37:g.62362919_62362920delGA	ENSP00000278823:p.Pro436fs					MTA2_ENST00000527204.1_Frame_Shift_Del_p.SP262fs|MTA2_ENST00000524902.1_Frame_Shift_Del_p.SP262fs	p.SP435fs	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN			14	1694_1695	-			435					Q68DB1|Q9UQB5	Frame_Shift_Del	DEL	ENST00000278823.2	37	c.1305_1306delTC	CCDS8022.1																																																																																				0.505	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		37	108						37	108	---	---	---	---
INTS5	80789	broad.mit.edu	37	11	62415151	62415151	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:62415151delC	ENST00000330574.2	-	2	2453	c.2401delG	c.(2401-2403)gcafs	p.A801fs	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000346178.4_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	801					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AAGATGGGTGCCCCCCAGCAT	0.607																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2401-2403)cafs		integrator complex subunit 5							64.0	69.0	67.0					11																	62415151		2202	4299	6501	SO:0001589	frameshift_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62415151delC	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2401delG	11.37:g.62415151delC	ENSP00000327889:p.Ala801fs						p.A801fs	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	2453	-			801					Q8N6W5|Q9C0G5	Frame_Shift_Del	DEL	ENST00000330574.2	37	c.2401delG	CCDS8027.1																																																																																				0.607	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		57	180						57	180	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65268677	65268678	+	lincRNA	INS	-	-	G	rs567610173		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:65268677_65268678insG	ENST00000534336.1	+	0	3445_3446				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GTAACTGAGGCGGGGGGGAGTT	0.396																																						ENST00000534336.1																			0																																																			378938							g.chr11:65268677_65268678insG	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268684_65268684dupG								NR_002819.2						0	3445_3446	+									RNA	INS	ENST00000534336.1	37																																																																																						0.396	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		7	53						7	53	---	---	---	---
YIF1A	10897	broad.mit.edu	37	11	66055346	66055346	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:66055346delA	ENST00000376901.4	-	3	469	c.285delT	c.(283-285)tttfs	p.F95fs	YIF1A_ENST00000471387.2_Intron|YIF1A_ENST00000359461.6_Frame_Shift_Del_p.F95fs|YIF1A_ENST00000496746.1_5'Flank|YIF1A_ENST00000526497.1_5'Flank	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	95					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						TGTCCACAGCAAAAAAATACT	0.592																																						ENST00000376901.4																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						c.(283-285)ttfs		Yip1 interacting factor homolog A (S. cerevisiae)							121.0	128.0	126.0					11																	66055346		2200	4295	6495	SO:0001589	frameshift_variant	10897				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane		g.chr11:66055346delA	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.285delT	11.37:g.66055346delA	ENSP00000366098:p.Phe95fs					YIF1A_ENST00000471387.2_Intron|YIF1A_ENST00000359461.6_Frame_Shift_Del_p.F95fs	p.F95fs	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN			3	469	-			95					A6NM00|Q96G83|Q9BVD0	Frame_Shift_Del	DEL	ENST00000376901.4	37	c.285delT	CCDS8132.1																																																																																				0.592	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219903.3	NM_020470		8	303						8	303	---	---	---	---
KDM2A	22992	broad.mit.edu	37	11	66983411	66983412	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:66983411_66983412insG	ENST00000529006.2	+	8	1124_1125	c.678_679insG	c.(679-681)gggfs	p.G227fs	KDM2A_ENST00000398645.2_Frame_Shift_Ins_p.G227fs|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	227	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						ACATCCATCAAGGGGGAAAGGT	0.421																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(676-681)caggggfs		lysine (K)-specific demethylase 2A																																				SO:0001589	frameshift_variant	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66983411_66983412insG	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.683dupG	11.37:g.66983416_66983416dupG	ENSP00000432786:p.Gly227fs					KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Frame_Shift_Ins_p.QG226fs	p.QG226fs	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			8	1124_1125	+			226			JmjC.		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Frame_Shift_Ins	INS	ENST00000529006.2	37	c.678_679insG	CCDS44657.1																																																																																				0.421	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		10	318						10	318	---	---	---	---
PITPNM1	9600	broad.mit.edu	37	11	67267648	67267649	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:67267648_67267649insG	ENST00000534749.1	-	5	1072_1073	c.884_885insC	c.(883-885)ccafs	p.P295fs	PITPNM1_ENST00000356404.3_Frame_Shift_Ins_p.P295fs|PITPNM1_ENST00000436757.2_Frame_Shift_Ins_p.P295fs			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	295					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CATCTGGGCCTGGGGGGGCCTC	0.693																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(883-885)cggfs		phosphatidylinositol transfer protein, membrane-associated 1																																				SO:0001589	frameshift_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67267648_67267649insG	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.885dupC	11.37:g.67267655_67267655dupG	ENSP00000437286:p.Pro295fs					PITPNM1_ENST00000436757.2_Frame_Shift_Ins_p.R295fs|PITPNM1_ENST00000534749.1_Frame_Shift_Ins_p.R295fs	p.R295fs	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			6	1109_1110	-			295					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Frame_Shift_Ins	INS	ENST00000534749.1	37	c.884_885insC	CCDS31620.1																																																																																				0.693	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		34	95						34	95	---	---	---	---
RELT	84957	broad.mit.edu	37	11	73101867	73101868	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:73101867_73101868insC	ENST00000064780.2	+	4	449_450	c.188_189insC	c.(187-192)agcccafs	p.SP63fs	RELT_ENST00000393580.2_Frame_Shift_Ins_p.SP63fs	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	63						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						TGGGGCTCCAGCCCATGCCAGC	0.649																																						ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(187-189)accfs		RELT tumor necrosis factor receptor																																				SO:0001589	frameshift_variant	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73101867_73101868insC	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.191dupC	11.37:g.73101870_73101870dupC	ENSP00000064780:p.Ser63fs					RELT_ENST00000393580.2_Frame_Shift_Ins_p.T63fs	p.T63fs	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			4	449_450	+			63					Q86V34|Q96JU1|Q9BUX7	Frame_Shift_Ins	INS	ENST00000064780.2	37	c.188_189insC	CCDS8222.1																																																																																				0.649	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		11	132						11	132	---	---	---	---
POLD3	10714	broad.mit.edu	37	11	74336609	74336609	+	Frame_Shift_Del	DEL	A	A	-	rs375954131		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:74336609delA	ENST00000263681.2	+	8	1019	c.890delA	c.(889-891)gaafs	p.E297fs	POLD3_ENST00000532497.1_Frame_Shift_Del_p.E191fs|POLD3_ENST00000527458.1_Frame_Shift_Del_p.E258fs	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	297					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CTGCAGAAGGAAAAAAAAAGG	0.458																																						ENST00000263681.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18						c.(889-891)gafs		polymerase (DNA-directed), delta 3, accessory subunit							27.0	29.0	29.0					11																	74336609		2198	4291	6489	SO:0001589	frameshift_variant	10714				base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:74336609delA	D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.890delA	11.37:g.74336609delA	ENSP00000263681:p.Glu297fs					POLD3_ENST00000527458.1_Frame_Shift_Del_p.E258fs|POLD3_ENST00000532497.1_Frame_Shift_Del_p.E191fs	p.E297fs	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN			8	1019	+	Breast(11;3.21e-06)		297					B7ZAI6|Q32MZ9|Q32N00	Frame_Shift_Del	DEL	ENST00000263681.2	37	c.890delA	CCDS8233.1																																																																																				0.458	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591		30	24						30	24	---	---	---	---
SLCO2B1	11309	broad.mit.edu	37	11	74915461	74915463	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:74915461_74915463delTTC	ENST00000289575.5	+	14	2361_2363	c.1966_1968delTTC	c.(1966-1968)ttcdel	p.F658del	SLCO2B1_ENST00000428359.2_In_Frame_Del_p.F636del|SLCO2B1_ENST00000532236.1_In_Frame_Del_p.F542del|SLCO2B1_ENST00000525650.1_In_Frame_Del_p.F514del|SLCO2B1_ENST00000454962.2_In_Frame_Del_p.F431del|SLCO2B1_ENST00000341411.4_In_Frame_Del_p.F431del	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	658					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CGGCCTCCAGTTCTTCTTCAAAA	0.527																																						ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1966-1968)del		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)																																			SO:0001651	inframe_deletion	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74915461_74915463delTTC	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1966_1968delTTC	11.37:g.74915467_74915469delTTC	ENSP00000289575:p.Phe658del					SLCO2B1_ENST00000454962.2_In_Frame_Del_p.F431del|SLCO2B1_ENST00000532236.1_In_Frame_Del_p.F542del|SLCO2B1_ENST00000341411.4_In_Frame_Del_p.F431del|SLCO2B1_ENST00000525650.1_In_Frame_Del_p.F514del|SLCO2B1_ENST00000428359.2_In_Frame_Del_p.F636del	p.F658del	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			14	2361_2363	+			658					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	In_Frame_Del	DEL	ENST00000289575.5	37	c.1966_1968delTTC	CCDS8235.1																																																																																				0.527	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		27	139						27	139	---	---	---	---
GAB2	9846	broad.mit.edu	37	11	77934490	77934490	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:77934490delG	ENST00000361507.4	-	6	1620	c.1535delC	c.(1534-1536)cctfs	p.P512fs	GAB2_ENST00000340149.2_Frame_Shift_Del_p.P474fs	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	512					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GCGGTTGACAGGGGGTGGCTG	0.552																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1534-1536)ctfs		GRB2-associated binding protein 2							155.0	144.0	148.0					11																	77934490		2200	4292	6492	SO:0001589	frameshift_variant	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77934490delG	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1535delC	11.37:g.77934490delG	ENSP00000354952:p.Pro512fs					GAB2_ENST00000340149.2_Frame_Shift_Del_p.P474fs	p.P512fs	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		6	1620	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		512					A2RRM2|A6NEW9|A7MD36|O60317	Frame_Shift_Del	DEL	ENST00000361507.4	37	c.1535delC	CCDS8259.1																																																																																				0.552	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		53	120						53	120	---	---	---	---
C11orf54	28970	broad.mit.edu	37	11	93486913	93486914	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:93486913_93486914insA	ENST00000331239.4	+	4	399_400	c.220_221insA	c.(220-222)caafs	p.Q74fs	C11orf54_ENST00000528099.1_Frame_Shift_Ins_p.Q74fs|C11orf54_ENST00000528288.1_Frame_Shift_Ins_p.Q74fs|C11orf54_ENST00000540113.1_Frame_Shift_Ins_p.Q55fs|C11orf54_ENST00000354421.3_Frame_Shift_Ins_p.Q74fs			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	74					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCTTGTAAACCAAAAAAAAGTA	0.356																																						ENST00000528288.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8						c.(220-222)aaafs		chromosome 11 open reading frame 54																																				SO:0001589	frameshift_variant	28970					nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding	g.chr11:93486913_93486914insA	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.228dupA	11.37:g.93486921_93486921dupA	ENSP00000331209:p.Gln74fs					C11orf54_ENST00000331239.4_Frame_Shift_Ins_p.K74fs|C11orf54_ENST00000540113.1_Frame_Shift_Ins_p.K55fs|C11orf54_ENST00000528099.1_Frame_Shift_Ins_p.K74fs|C11orf54_ENST00000354421.3_Frame_Shift_Ins_p.K74fs	p.K74fs	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN			4	455_456	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	74					A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Frame_Shift_Ins	INS	ENST00000331239.4	37	c.220_221insA																																																																																					0.356	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039		10	48						10	48	---	---	---	---
CUL5	8065	broad.mit.edu	37	11	107965658	107965658	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:107965658delA	ENST00000393094.2	+	15	2303	c.1687delA	c.(1687-1689)aaafs	p.K564fs		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	564					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AGAATTCTACAAAAAAAATCA	0.373																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(1687-1689)aafs		cullin 5							63.0	67.0	66.0					11																	107965658		2201	4298	6499	SO:0001589	frameshift_variant	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107965658delA	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.1687delA	11.37:g.107965658delA	ENSP00000376808:p.Lys564fs						p.K564fs	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	15	2303	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	564					A8K960|O14766|Q9BZC6	Frame_Shift_Del	DEL	ENST00000393094.2	37	c.1687delA	CCDS31668.1																																																																																				0.373	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			17	49						17	49	---	---	---	---
CD3G	917	broad.mit.edu	37	11	118220583	118220583	+	Frame_Shift_Del	DEL	A	A	-	rs570768621|rs199676861	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:118220583delA	ENST00000532917.1	+	3	273	c.205delA	c.(205-207)aaafs	p.K71fs	CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	71	Ig-like.				cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	AACTGAAGATAAAAAAAAATG	0.403													AAAAAAAAA|AAAAAAAAA|AAAAAAAA|deletion	3	0.000599042	0.0008	0.0014	5008	,	,		19811	0.0		0.001	False		,,,				2504	0.0					ENST00000532917.1																			0				breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	GRCh37	CM983819	CD3G	M		c.(205-207)aafs		CD3g molecule, gamma (CD3-TCR complex)							100.0	97.0	98.0					11																	118220583		2200	4296	6496	SO:0001589	frameshift_variant	917				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity	g.chr11:118220583delA	X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"""CD molecules"""	1675	protein-coding gene	gene with protein product		186740	"""CD3g antigen, gamma polypeptide (TiT3 complex)"""				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.205delA	11.37:g.118220583delA	ENSP00000431445:p.Lys71fs					CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs|CD3G_ENST00000532903.1_3'UTR	p.K71fs	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	3	273	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	71			Ig-like.		Q2HIZ6	Frame_Shift_Del	DEL	ENST00000532917.1	37	c.205delA	CCDS8395.1																																																																																				0.403	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392135.1	NM_000073		30	118						30	118	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118369199	118369199	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:118369199delA	ENST00000389506.5	+	22	5908	c.5908delA	c.(5908-5910)aaafs	p.K1971fs	KMT2A_ENST00000354520.4_Frame_Shift_Del_p.K1933fs|KMT2A_ENST00000534358.1_Frame_Shift_Del_p.K1974fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1971					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCTGGATGATAAAAAAGTATA	0.418																																						ENST00000534358.1																			0											c.(5917-5919)aafs		lysine (K)-specific methyltransferase 2A							161.0	172.0	168.0					11																	118369199		2200	4296	6496	SO:0001589	frameshift_variant	4297							g.chr11:118369199delA	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.5908delA	11.37:g.118369199delA	ENSP00000374157:p.Lys1971fs					KMT2A_ENST00000389506.5_Frame_Shift_Del_p.K1971fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.K1933fs	p.K1974fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					22	5940	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Del	DEL	ENST00000389506.5	37	c.5917delA	CCDS31686.1																																																																																				0.418	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		91	241						91	241	---	---	---	---
BCL9L	283149	broad.mit.edu	37	11	118773010	118773010	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:118773010delC	ENST00000334801.3	-	6	2406	c.1442delG	c.(1441-1443)ggcfs	p.G481fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	481	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CAGCGGGGGGCCCCCTAGGCT	0.647																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(1441-1443)gcfs		B-cell CLL/lymphoma 9-like							48.0	60.0	56.0					11																	118773010		2160	4263	6423	SO:0001589	frameshift_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773010delC	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1442delG	11.37:g.118773010delC	ENSP00000335320:p.Gly481fs					BCL9L_ENST00000526143.1_5'UTR	p.G481fs	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2406	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	481			Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Del	DEL	ENST00000334801.3	37	c.1442delG	CCDS8403.1																																																																																				0.647	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		66	190						66	190	---	---	---	---
CBL	867	broad.mit.edu	37	11	119149355	119149356	+	In_Frame_Ins	INS	-	-	ATG	rs397507494		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:119149355_119149356insATG	ENST00000264033.4	+	9	1739_1740	c.1363_1364insATG	c.(1363-1365)tat>tATGat	p.460_461insD		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	460	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTCCCCAAATTATGATGATGAT	0.475			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"""Dom, Rec"""	yes		11	11q23.3	867	"""T, Mis S, O"""	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"""AML, JMML, MDS"""		1	Deletion - In frame(1)	p.E366_K477del(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(1363-1365)tga>ATGtga		Cbl proto-oncogene, E3 ubiquitin protein ligase				0,4264		0,0,2132						6.0	1.0			99	1,8253		0,1,4126	no	coding	CBL	NM_005188.2		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001652	inframe_insertion	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119149355_119149356insATG	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1379_1381dupATG	11.37:g.119149362_119149364dupATG	ENSP00000264033:p.Asp460_Asp460dup						p.454_455insM	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	9	1739_1740	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	454			Asp/Glu-rich (acidic).		A3KMP8	In_Frame_Ins	INS	ENST00000264033.4	37	c.1363_1364insATG	CCDS8418.1																																																																																				0.475	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		23	86						23	86	---	---	---	---
NFRKB	4798	broad.mit.edu	37	11	129752378	129752378	+	Frame_Shift_Del	DEL	G	G	-	rs375807402		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:129752378delG	ENST00000446488.3	-	9	1153	c.1050delC	c.(1048-1050)cccfs	p.P350fs	NFRKB_ENST00000524746.1_Frame_Shift_Del_p.P350fs|NFRKB_ENST00000304521.5_Frame_Shift_Del_p.P350fs|NFRKB_ENST00000524794.1_Frame_Shift_Del_p.P375fs	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	350					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CCAGCGGAGAGGGGGCCTGTG	0.512																																						ENST00000446488.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(1048-1050)ccfs		nuclear factor related to kappaB binding protein							125.0	129.0	128.0					11																	129752378		2201	4297	6498	SO:0001589	frameshift_variant	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129752378delG		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.1050delC	11.37:g.129752378delG	ENSP00000400476:p.Pro350fs					NFRKB_ENST00000524746.1_Frame_Shift_Del_p.P350fs|NFRKB_ENST00000524794.1_Frame_Shift_Del_p.P375fs|NFRKB_ENST00000304521.5_Frame_Shift_Del_p.P350fs	p.P350fs	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	9	1153	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	350					Q12869|Q15312|Q9H048	Frame_Shift_Del	DEL	ENST00000446488.3	37	c.1050delC	CCDS44770.1																																																																																				0.512	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		35	190						35	190	---	---	---	---
NCAPD3	23310	broad.mit.edu	37	11	134048586	134048586	+	Frame_Shift_Del	DEL	G	G	-	rs138442478		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr11:134048586delG	ENST00000534548.2	-	22	2789	c.2725delC	c.(2725-2727)cagfs	p.Q909fs	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCTCTGACCTGGGGGGGTGGC	0.522																																						ENST00000534548.2																			1	Insertion - Frameshift(1)	p.Q909fs*12(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2725-2727)agfs		non-SMC condensin II complex, subunit D3							91.0	93.0	93.0					11																	134048586		2201	4297	6498	SO:0001589	frameshift_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134048586delG	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2725delC	11.37:g.134048586delG	ENSP00000433681:p.Gln909fs						p.Q909fs	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	22	2789	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	909					A6NFS2|Q4KMQ9	Frame_Shift_Del	DEL	ENST00000534548.2	37	c.2725delC	CCDS31723.1																																																																																				0.522	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		8	118						8	118	---	---	---	---
LTBR	4055	broad.mit.edu	37	12	6497628	6497630	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:6497628_6497630delCTC	ENST00000228918.4	+	7	1058_1060	c.732_734delCTC	c.(730-735)ttctcc>ttc	p.S245del	LTBR_ENST00000539925.1_In_Frame_Del_p.S226del|LTBR_ENST00000541102.1_Intron|LTBR_ENST00000543190.1_3'UTR	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	245					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CCACCGTCTTCTCCTGCATCTGG	0.576																																						ENST00000228918.4																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(730-735)ttc>tt		lymphotoxin beta receptor (TNFR superfamily, member 3)																																				SO:0001651	inframe_deletion	4055				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	g.chr12:6497628_6497630delCTC	L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.732_734delCTC	12.37:g.6497628_6497630delCTC	ENSP00000228918:p.Ser245del					LTBR_ENST00000541102.1_Intron|LTBR_ENST00000539925.1_In_Frame_Del_p.FS225del|LTBR_ENST00000543190.1_3'UTR	p.FS244del	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN			7	1058_1060	+			244					B7Z1D2|D3DUR2|F5GXE7	In_Frame_Del	DEL	ENST00000228918.4	37	c.732_734delCTC	CCDS8544.1																																																																																				0.576	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1			50	96						50	96	---	---	---	---
RECQL	5965	broad.mit.edu	37	12	21623985	21623986	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:21623985_21623986insTT	ENST00000444129.2	-	14	2182_2183	c.1714_1715insAA	c.(1714-1716)atafs	p.I572fs	RECQL_ENST00000421138.2_Frame_Shift_Ins_p.I572fs	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	572					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTTAGGTCCTATTTTCAAATAC	0.366								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1714-1716)aggfs	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)																																				SO:0001589	frameshift_variant	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21623985_21623986insTT	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1713_1714dupAA	12.37:g.21623988_21623989dupTT	ENSP00000416739:p.Ile572fs					RECQL_ENST00000421138.2_Frame_Shift_Ins_p.R572fs	p.R572fs	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			14	2182_2183	-			572					A8K6G2	Frame_Shift_Ins	INS	ENST00000444129.2	37	c.1714_1715insAA	CCDS31756.1																																																																																				0.366	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		10	61						10	61	---	---	---	---
MRPS35	60488	broad.mit.edu	37	12	27908288	27908288	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:27908288delA	ENST00000081029.3	+	8	948	c.877delA	c.(877-879)aaafs	p.K294fs	Y_RNA_ENST00000516776.1_RNA|MRPS35_ENST00000538315.1_3'UTR	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					TGAAGAGTACAAAAAGTCTGT	0.323																																						ENST00000081029.3																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6						c.(877-879)aafs		mitochondrial ribosomal protein S35							68.0	80.0	76.0					12																	27908288		2202	4295	6497	SO:0001589	frameshift_variant	60488				DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr12:27908288delA	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"""Mitochondrial ribosomal proteins / small subunits"""	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.877delA	12.37:g.27908288delA	ENSP00000081029:p.Lys294fs					MRPS35_ENST00000538315.1_3'UTR	p.K294fs	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN			8	948	+	Lung SC(9;0.0873)		294					B2RDZ7|Q96Q21	Frame_Shift_Del	DEL	ENST00000081029.3	37	c.877delA	CCDS8714.1																																																																																				0.323	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1	NM_021821		44	163						44	163	---	---	---	---
BICD1	636	broad.mit.edu	37	12	32487496	32487496	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:32487496delA	ENST00000281474.5	+	6	2250	c.2147delA	c.(2146-2148)gaafs	p.E716fs	BICD1_ENST00000548411.1_Frame_Shift_Del_p.E716fs	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	716	Interacts with RAB6A.				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)			TATGAAAATGAAAAAGCAATG	0.388																																						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.(2146-2148)gafs		bicaudal D homolog 1 (Drosophila)							113.0	103.0	106.0					12																	32487496		2203	4300	6503	SO:0001589	frameshift_variant	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.chr12:32487496delA	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.2147delA	12.37:g.32487496delA	ENSP00000281474:p.Glu716fs					BICD1_ENST00000281474.5_Frame_Shift_Del_p.E716fs	p.E716fs	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		6	2328	+	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)		716			Interacts with RAB6A.		A8K2C3|F8W113|O43892|O43893	Frame_Shift_Del	DEL	ENST00000281474.5	37	c.2147delA	CCDS8726.1																																																																																				0.388	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		28	84						28	84	---	---	---	---
ALG10	84920	broad.mit.edu	37	12	34179308	34179308	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:34179308delT	ENST00000266483.2	+	3	1199	c.880delT	c.(880-882)tttfs	p.F295fs	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron|AC046130.1_ENST00000401300.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	295					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				ACTATTCTACTTTTTTTCATT	0.348																																						ENST00000266483.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(880-882)ttfs		ALG10, alpha-1,2-glucosyltransferase							131.0	137.0	135.0					12																	34179308		2203	4297	6500	SO:0001589	frameshift_variant	84920				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:34179308delT	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.880delT	12.37:g.34179308delT	ENSP00000266483:p.Phe295fs					RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	p.F295fs	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN			3	1199	+	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)	295					Q6NS98|Q96DU0|Q96SM6	Frame_Shift_Del	DEL	ENST00000266483.2	37	c.880delT	CCDS41769.1																																																																																				0.348	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		7	222						7	222	---	---	---	---
SLC2A13	114134	broad.mit.edu	37	12	40153972	40153972	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:40153972delT	ENST00000280871.4	-	10	1853	c.1803delA	c.(1801-1803)aaafs	p.K601fs		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	601					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				TTTCCTCTAATTTTTTGCCTT	0.403										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(1801-1803)aafs		solute carrier family 2 (facilitated glucose transporter), member 13							85.0	80.0	82.0					12																	40153972		2203	4300	6503	SO:0001589	frameshift_variant	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40153972delT	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1803delA	12.37:g.40153972delT	ENSP00000280871:p.Lys601fs	HNSCC(50;0.14)					p.K601fs	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			10	1853	-		Lung NSC(34;0.105)|all_lung(34;0.123)	601					Q17S07	Frame_Shift_Del	DEL	ENST00000280871.4	37	c.1803delA	CCDS8736.2																																																																																				0.403	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			21	58						21	58	---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41365259	41365259	+	Intron	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:41365259delA	ENST00000551295.2	+	16	1921				CNTN1_ENST00000547702.1_Frame_Shift_Del_p.K610fs|CNTN1_ENST00000347616.1_Intron|CNTN1_ENST00000360099.3_Frame_Shift_Del_p.K610fs|CNTN1_ENST00000547849.1_Frame_Shift_Del_p.K610fs|CNTN1_ENST00000348761.2_Intron	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGGTGGAGAGAAAAACATGGT	0.468																																						ENST00000547849.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(1828-1830)aafs		contactin 1							36.0	34.0	35.0					12																	41365259		876	1991	2867	SO:0001627	intron_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41365259delA	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1805-9452A>-	12.37:g.41365259delA						CNTN1_ENST00000551295.2_Intron|CNTN1_ENST00000547702.1_Frame_Shift_Del_p.K610fs|CNTN1_ENST00000347616.1_Intron|CNTN1_ENST00000348761.2_Intron|CNTN1_ENST00000360099.3_Frame_Shift_Del_p.K610fs	p.K610fs	NM_001256064.1	NP_001242993.1	Q12860	CNTN1_HUMAN			16	2147	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	0			Fibronectin type-III 1.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Frame_Shift_Del	DEL	ENST00000551295.2	37	c.1828delA	CCDS8737.1																																																																																				0.468	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		20	32						20	32	---	---	---	---
RP11-478B9.1	0	broad.mit.edu	37	12	45466507	45466508	+	RNA	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:45466507_45466508insA	ENST00000548424.1	+	0	448																											GTTTCAAGGTTAAAAAAAAACC	0.381																																						ENST00000548424.1																			0																																																			0							g.chr12:45466507_45466508insA																													12.37:g.45466516_45466516dupA														0	448	+									RNA	INS	ENST00000548424.1	37																																																																																						0.381	RP11-478B9.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000404811.1			5	11						5	11	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49440430	49440431	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:49440430_49440431insG	ENST00000301067.7	-	15	4378_4379	c.4379_4380insC	c.(4378-4380)ccafs	p.P1460fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1460	Cys-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)										CGGTGAGCAGTGGGGGGTCCAG	0.564																																						ENST00000301067.7																			0											c.(4378-4380)cctfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49440430_49440431insG	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.4380dupC	12.37:g.49440436_49440436dupG	ENSP00000301067:p.Pro1460fs						p.P1460fs	NM_003482.3	NP_003473.3					15	4378_4379	-								O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.4379_4380insC	CCDS44873.1																																																																																				0.564	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			43	224						43	224	---	---	---	---
TUBA1A	7846	broad.mit.edu	37	12	49580268	49580268	+	Intron	DEL	G	G	-	rs146262934		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:49580268delG	ENST00000295766.5	-	3	706				TUBA1A_ENST00000550767.1_Intron|TUBA1A_ENST00000546918.1_Frame_Shift_Del_p.L120fs|TUBA1A_ENST00000301071.7_Intron	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a						'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	gggaggagcaggggggaggag	0.627																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	ENST00000546918.1																			0				stomach(1)|upper_aerodigestive_tract(1)	2						c.(352-354)tgfs		tubulin, alpha 1a				3,338,3919		0,0,3,0,338,1789	56.0	59.0	58.0			-0.6	0.0	12	dbSNP_134	60	1,136,8117		0,0,1,0,136,3990	no	intron	TUBA1A	NM_006009.2		0,0,4,0,474,5779	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6598,8.0047,3.8197			49580268	4,474,12036	2203	4300	6503	SO:0001627	intron_variant	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49580268delG	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.227-27C>-	12.37:g.49580268delG						TUBA1A_ENST00000295766.5_Intron|TUBA1A_ENST00000550767.1_Intron|TUBA1A_ENST00000301071.7_Intron	p.L120fs			Q71U36	TBA1A_HUMAN			2	438	-			0					A8K0B8|G3V1U9|P04687|P05209	Frame_Shift_Del	DEL	ENST00000295766.5	37	c.352delC	CCDS58227.1																																																																																				0.627	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		29	125						29	125	---	---	---	---
COX14	84987	broad.mit.edu	37	12	50513902	50513902	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:50513902delG	ENST00000550487.1	+	2	407	c.76delG	c.(76-78)gggfs	p.G27fs	COX14_ENST00000548985.1_Frame_Shift_Del_p.G27fs|RP4-605O3.4_ENST00000552815.1_RNA|COX14_ENST00000550654.1_Frame_Shift_Del_p.G27fs|COX14_ENST00000317943.2_Frame_Shift_Del_p.G27fs	NM_001257134.1|NM_032901.3	NP_001244063.1|NP_116290.1	Q96I36	COX14_HUMAN	cytochrome c oxidase assembly homolog 14 (S. cerevisiae)	27					mitochondrial respiratory chain complex IV assembly (GO:0033617)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.G26W(1)									CACTGTGTATGGGGGGTACCT	0.522																																						ENST00000550487.1																			1	Substitution - Missense(1)	p.G26W(1)	lung(1)								c.(76-78)ggfs		cytochrome c oxidase assembly homolog 14 (S. cerevisiae)							110.0	98.0	102.0					12																	50513902		2203	4300	6503	SO:0001589	frameshift_variant	84987					integral to membrane		g.chr12:50513902delG		CCDS8800.1	12q13.12	2012-10-15	2012-10-15	2012-02-23		ENSG00000178449		"""Mitochondrial respiratory chain complex assembly factors"""	28216	protein-coding gene	gene with protein product		614478	"""chromosome 12 open reading frame 62"", ""COX14 cytochrome c oxidase assembly homolog (S. cerevisiae)"""	C12orf62		22243966, 22356826	Standard	NM_032901		Approved	MGC14288	uc031qhh.1	Q96I36		ENST00000550487.1:c.76delG	12.37:g.50513902delG	ENSP00000446524:p.Gly27fs					COX14_ENST00000548985.1_Frame_Shift_Del_p.G27fs|COX14_ENST00000550654.1_Frame_Shift_Del_p.G27fs|RP4-605O3.4_ENST00000552815.1_RNA|COX14_ENST00000317943.2_Frame_Shift_Del_p.G27fs	p.G27fs	NM_001257134.1|NM_032901.3	NP_001244063.1|NP_116290.1	Q96I36	CL062_HUMAN			2	407	+			27					B2R5G6	Frame_Shift_Del	DEL	ENST00000550487.1	37	c.76delG	CCDS8800.1																																																																																				0.522	COX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406024.2	NM_032901		45	94						45	94	---	---	---	---
NR4A1	3164	broad.mit.edu	37	12	52448248	52448249	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52448248_52448249insC	ENST00000243050.1	+	3	450_451	c.136_137insC	c.(136-138)gccfs	p.A46fs	NR4A1_ENST00000545748.1_Frame_Shift_Ins_p.A100fs|NR4A1_ENST00000548232.1_Frame_Shift_Ins_p.A46fs|NR4A1_ENST00000547206.1_3'UTR|NR4A1_ENST00000360284.3_Frame_Shift_Ins_p.A59fs|NR4A1_ENST00000394824.2_Frame_Shift_Ins_p.A46fs|NR4A1_ENST00000394825.1_Frame_Shift_Ins_p.A46fs|NR4A1_ENST00000550082.1_Frame_Shift_Ins_p.A59fs	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	46					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		AGCCCCCGCTGCCCCCACTGCC	0.653																																						ENST00000545748.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16						c.(298-300)cccfs		nuclear receptor subfamily 4, group A, member 1																																				SO:0001589	frameshift_variant	3164				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52448248_52448249insC	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.141dupC	12.37:g.52448253_52448253dupC	ENSP00000243050:p.Ala46fs					NR4A1_ENST00000243050.1_Frame_Shift_Ins_p.P46fs|NR4A1_ENST00000550082.1_Frame_Shift_Ins_p.P59fs|NR4A1_ENST00000360284.3_Frame_Shift_Ins_p.P59fs|NR4A1_ENST00000394824.2_Frame_Shift_Ins_p.P46fs|NR4A1_ENST00000548232.1_Frame_Shift_Ins_p.P46fs|NR4A1_ENST00000394825.1_Frame_Shift_Ins_p.P46fs|NR4A1_ENST00000547206.1_3'UTR	p.P100fs			P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	3	1293_1294	+			46					B4DML7|Q15627|Q53Y00|Q6IBU8	Frame_Shift_Ins	INS	ENST00000243050.1	37	c.298_299insC	CCDS8818.1																																																																																				0.653	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			29	128						29	128	---	---	---	---
KRT82	3888	broad.mit.edu	37	12	52799891	52799891	+	Frame_Shift_Del	DEL	C	C	-	rs571511455		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:52799891delC	ENST00000257974.2	-	1	248	c.171delG	c.(169-171)ctgfs	p.L57fs	RP11-1020M18.10_ENST00000548135.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	57	Head.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CCACGTTGCACAGGCTCCGTG	0.687																																						ENST00000257974.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(169-171)ctfs		keratin 82							25.0	27.0	26.0					12																	52799891		2203	4299	6502	SO:0001589	frameshift_variant	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52799891delC	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.171delG	12.37:g.52799891delC	ENSP00000257974:p.Leu57fs						p.L57fs	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	1	248	-			57			Head.			Frame_Shift_Del	DEL	ENST00000257974.2	37	c.171delG	CCDS8826.1																																																																																				0.687	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		13	40						13	40	---	---	---	---
TENC1	23371	broad.mit.edu	37	12	53452903	53452903	+	Frame_Shift_Del	DEL	C	C	-	rs142183380		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:53452903delC	ENST00000314250.6	+	18	1768	c.1478delC	c.(1477-1479)accfs	p.T493fs	TENC1_ENST00000451358.1_Frame_Shift_Del_p.T493fs|TENC1_ENST00000552570.1_Frame_Shift_Del_p.T493fs|TENC1_ENST00000546602.1_Frame_Shift_Del_p.T493fs|TENC1_ENST00000314276.3_Frame_Shift_Del_p.T503fs|TENC1_ENST00000379902.3_Frame_Shift_Del_p.T369fs|TENC1_ENST00000549700.1_Frame_Shift_Del_p.T493fs	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	493	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.A496fs*31(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CCCCGGCAGACCCCCCCGGCA	0.677																																						ENST00000314250.6																			1	Insertion - Frameshift(1)	p.A496fs*31(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(1477-1479)acfs		tensin like C1 domain containing phosphatase (tensin 2)							31.0	37.0	35.0					12																	53452903		2202	4299	6501	SO:0001589	frameshift_variant	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53452903delC	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.1478delC	12.37:g.53452903delC	ENSP00000319684:p.Thr493fs					TENC1_ENST00000546602.1_Frame_Shift_Del_p.T493fs|TENC1_ENST00000379902.3_Frame_Shift_Del_p.T369fs|TENC1_ENST00000314276.3_Frame_Shift_Del_p.T503fs|TENC1_ENST00000451358.1_Frame_Shift_Del_p.T493fs|TENC1_ENST00000552570.1_Frame_Shift_Del_p.T493fs|TENC1_ENST00000549700.1_Frame_Shift_Del_p.T493fs	p.T493fs	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			18	1768	+			493			Pro-rich.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Frame_Shift_Del	DEL	ENST00000314250.6	37	c.1478delC	CCDS8843.1																																																																																				0.677	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		24	115						24	115	---	---	---	---
OR6C65	403282	broad.mit.edu	37	12	55795221	55795222	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:55795221_55795222insA	ENST00000379665.2	+	1	1008_1009	c.909_910insA	c.(910-912)aaafs	p.K304fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGGAATTCACCAAAAAAATATT	0.351																																						ENST00000379665.2																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						c.(907-912)acaaaafs		olfactory receptor, family 6, subfamily C, member 65																																				SO:0001589	frameshift_variant	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55795221_55795222insA		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.916dupA	12.37:g.55795228_55795228dupA	ENSP00000368986:p.Lys304fs						p.TK303fs	NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN			1	1008_1009	+			303					B2RNH9	Frame_Shift_Ins	INS	ENST00000379665.2	37	c.909_910insA	CCDS31821.1																																																																																				0.351	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			22	44						22	44	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56563405	56563405	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:56563405delC	ENST00000267064.4	-	24	2616	c.2530delG	c.(2530-2532)gaafs	p.E844fs	SMARCC2_ENST00000394023.3_Frame_Shift_Del_p.E875fs|SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.E875fs|SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.E875fs|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	844	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			gtcttcctttccccctcagac	0.617																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(2623-2625)aafs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							172.0	127.0	142.0					12																	56563405		2203	4300	6503	SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56563405delC	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2530delG	12.37:g.56563405delC	ENSP00000267064:p.Glu844fs					SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.E875fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Frame_Shift_Del_p.E844fs|SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.E875fs	p.E875fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		25	2728	-			844					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Del	DEL	ENST00000267064.4	37	c.2623delG	CCDS8907.1																																																																																				0.617	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			16	53						16	53	---	---	---	---
RP11-74M13.4	0	broad.mit.edu	37	12	57255300	57255300	+	RNA	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:57255300delA	ENST00000557452.1	+	0	720				SNORA48_ENST00000391081.1_RNA																							TGGAAGAAGGAAaaaaaaata	0.423																																						ENST00000557452.1																			0																																																			0							g.chr12:57255300delA																													12.37:g.57255300delA														0	720	+									RNA	DEL	ENST00000557452.1	37																																																																																						0.423	RP11-74M13.4-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000410896.1			24	35						24	35	---	---	---	---
MGAT4C	25834	broad.mit.edu	37	12	86374168	86374168	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:86374168delT	ENST00000604798.1	-	8	1540	c.336delA	c.(334-336)aaafs	p.K112fs	MGAT4C_ENST00000332156.1_Frame_Shift_Del_p.K112fs|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000548651.1_Frame_Shift_Del_p.K112fs|MGAT4C_ENST00000552808.2_Frame_Shift_Del_p.K112fs|MGAT4C_ENST00000549405.2_Frame_Shift_Del_p.K112fs|MGAT4C_ENST00000393205.2_Frame_Shift_Del_p.K141fs			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	112					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AATAGTTTCCTTTTTTTCGCT	0.328																																						ENST00000604798.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(334-336)aafs		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							53.0	56.0	55.0					12																	86374168		2203	4300	6503	SO:0001589	frameshift_variant	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86374168delT		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.336delA	12.37:g.86374168delT	ENSP00000474896:p.Lys112fs					MGAT4C_ENST00000393205.2_Frame_Shift_Del_p.K141fs|MGAT4C_ENST00000548651.1_Frame_Shift_Del_p.K112fs|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Frame_Shift_Del_p.K112fs|MGAT4C_ENST00000332156.1_Frame_Shift_Del_p.K112fs|MGAT4C_ENST00000552808.2_Frame_Shift_Del_p.K112fs	p.K112fs			Q9UBM8	MGT4C_HUMAN			8	1540	-			112					B4DRH2|Q4G199|Q9UIU5	Frame_Shift_Del	DEL	ENST00000604798.1	37	c.336delA	CCDS9030.1																																																																																				0.328	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		10	57						10	57	---	---	---	---
CHPT1	56994	broad.mit.edu	37	12	102108338	102108338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:102108338delT	ENST00000229266.3	+	3	713	c.478delT	c.(478-480)tttfs	p.F162fs	CHPT1_ENST00000549872.1_Frame_Shift_Del_p.F162fs|CHPT1_ENST00000550385.1_3'UTR	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	162			F -> S (in dbSNP:rs3205421). {ECO:0000269|PubMed:10893425}.		CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TCCTGACTGGTTTTTTTTCTG	0.343																																						ENST00000549872.1																			0				kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(478-480)ttfs		choline phosphotransferase 1							162.0	149.0	154.0					12																	102108338		2203	4300	6503	SO:0001589	frameshift_variant	56994				platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding	g.chr12:102108338delT		CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"""phosphatidylcholine synthesizing enzyme"""					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.478delT	12.37:g.102108338delT	ENSP00000229266:p.Phe162fs					CHPT1_ENST00000550385.1_3'UTR|CHPT1_ENST00000229266.3_Frame_Shift_Del_p.F162fs	p.F162fs			Q8WUD6	CHPT1_HUMAN			3	668	+			162		F -> S (in dbSNP:rs3205421).			B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Frame_Shift_Del	DEL	ENST00000229266.3	37	c.478delT	CCDS9086.1																																																																																				0.343	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1	NM_020244		39	60						39	60	---	---	---	---
CCDC63	160762	broad.mit.edu	37	12	111311659	111311659	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:111311659delA	ENST00000308208.5	+	5	625	c.383delA	c.(382-384)gaafs	p.E128fs	CCDC63_ENST00000545036.1_Frame_Shift_Del_p.E88fs|CCDC63_ENST00000552694.1_Frame_Shift_Del_p.E49fs|CCDC63_ENST00000550317.1_3'UTR	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	128										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CTTCAGATGGAAAAAAAAATC	0.413																																						ENST00000308208.5																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						c.(382-384)gafs		coiled-coil domain containing 63				4,40,4220		0,0,4,17,6,2105	62.0	67.0	65.0			4.6	1.0	12		65	6,97,8151		0,0,6,41,15,4065	no	codingComplex	CCDC63	NM_152591.1		0,0,10,58,21,6170	A1A1,A1A2,A1R,A2A2,A2R,RR		1.2479,1.0319,1.1743			111311659	10,137,12371	2203	4300	6503	SO:0001589	frameshift_variant	160762							g.chr12:111311659delA	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.383delA	12.37:g.111311659delA	ENSP00000312399:p.Glu128fs					CCDC63_ENST00000552694.1_Frame_Shift_Del_p.E49fs|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Frame_Shift_Del_p.E88fs	p.E128fs	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN			5	625	+			128					B4DY03|Q0P603|Q6P2E1	Frame_Shift_Del	DEL	ENST00000308208.5	37	c.383delA	CCDS9151.1																																																																																				0.413	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		43	79						43	79	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117977605	117977605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:117977605delG	ENST00000339824.5	-	10	2333	c.1606delC	c.(1606-1608)ctcfs	p.L536fs	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Frame_Shift_Del_p.L233fs|KSR2_ENST00000425217.1_Frame_Shift_Del_p.L507fs			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTAGGAGGGAGGGGGGGTGCT	0.632																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1519-1521)tcfs		kinase suppressor of ras 2							71.0	86.0	81.0					12																	117977605		2132	4217	6349	SO:0001589	frameshift_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977605delG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1606delC	12.37:g.117977605delG	ENSP00000339952:p.Leu536fs					KSR2_ENST00000339824.5_Frame_Shift_Del_p.L536fs|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Frame_Shift_Del_p.L233fs	p.L507fs	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			10	1573	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		536					A0PJT2|Q3B828|Q8N775	Frame_Shift_Del	DEL	ENST00000339824.5	37	c.1519delC																																																																																					0.632	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		70	46						70	46	---	---	---	---
HPD	3242	broad.mit.edu	37	12	122277894	122277895	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:122277894_122277895insT	ENST00000289004.4	-	13	1049_1050	c.1014_1015insA	c.(1012-1017)aaaccgfs	p.P339fs	HPD_ENST00000543163.1_Frame_Shift_Ins_p.P300fs	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	339					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCCTGCACCGGTTTGGTGAAGA	0.629																																						ENST00000543163.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18						c.(895-900)aacggtfs		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)																																			SO:0001589	frameshift_variant	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122277894_122277895insT	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.1015dupA	12.37:g.122277897_122277897dupT	ENSP00000289004:p.Pro339fs					HPD_ENST00000289004.4_Frame_Shift_Ins_p.NG338fs	p.NG299fs	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	14	1342_1343	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		338					A8K461|B3KQ63|Q13234	Frame_Shift_Ins	INS	ENST00000289004.4	37	c.897_898insA	CCDS9224.1																																																																																				0.629	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		25	164						25	164	---	---	---	---
ATP6V0A2	23545	broad.mit.edu	37	12	124229156	124229156	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124229156delT	ENST00000330342.3	+	12	1587	c.1339delT	c.(1339-1341)tttfs	p.F448fs		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	448					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CATGAGGATGTTTTTTAATGG	0.532																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1339-1341)ttfs		ATPase, H+ transporting, lysosomal V0 subunit a2							98.0	85.0	90.0					12																	124229156		2203	4300	6503	SO:0001589	frameshift_variant	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124229156delT	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.1339delT	12.37:g.124229156delT	ENSP00000332247:p.Phe448fs						p.F448fs	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	12	1587	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		448					A8K026|Q6NUM0	Frame_Shift_Del	DEL	ENST00000330342.3	37	c.1339delT	CCDS9254.1																																																																																				0.532	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		25	102						25	102	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124265628	124265628	+	Splice_Site	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124265628delT	ENST00000409039.3	+	6	465	c.440delT	c.(439-441)gtt>gt	p.V147fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	147	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCATTTCAGGTTTTTTTGCCA	0.368																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.e6-1		dynein, axonemal, heavy chain 10				10,4220		2,6,2107	34.0	40.0	38.0			5.3	1.0	12		38	8,8236		1,6,4115	no	frameshift-near-splice	DNAH10	NM_207437.3		3,12,6222	A1A1,A1R,RR		0.097,0.2364,0.1443			124265628	18,12456	1315	2305	3620	SO:0001630	splice_region_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124265628delT	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.439-1T>-	12.37:g.124265628delT							p.V147_splice	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	6	465	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		147			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Splice_Site	DEL	ENST00000409039.3	37	c.438_splice	CCDS9255.2																																																																																				0.368	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		Frame_Shift_Del	23	57						23	57	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124274577	124274577	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124274577delC	ENST00000409039.3	+	11	1566	c.1541delC	c.(1540-1542)accfs	p.T514fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	514	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCCTAGTCACCCCCATGGAA	0.473																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1540-1542)acfs		dynein, axonemal, heavy chain 10							216.0	196.0	203.0					12																	124274577		2203	4300	6503	SO:0001589	frameshift_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124274577delC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1541delC	12.37:g.124274577delC	ENSP00000386770:p.Thr514fs						p.T514fs	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	11	1566	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		514			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Frame_Shift_Del	DEL	ENST00000409039.3	37	c.1541delC	CCDS9255.2																																																																																				0.473	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			59	305						59	305	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124415103	124415103	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124415103delA	ENST00000409039.3	+	72	12438	c.12413delA	c.(12412-12414)gaafs	p.E4138fs	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4138					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTTGGTGATGAAAAGGAGAAA	0.428																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(12412-12414)gafs		dynein, axonemal, heavy chain 10							54.0	53.0	53.0					12																	124415103		1845	4090	5935	SO:0001589	frameshift_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124415103delA	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12413delA	12.37:g.124415103delA	ENSP00000386770:p.Glu4138fs					CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron	p.E4138fs	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	72	12438	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		4138					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Frame_Shift_Del	DEL	ENST00000409039.3	37	c.12413delA	CCDS9255.2																																																																																				0.428	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			7	44						7	44	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124832801	124832801	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:124832801delG	ENST00000405201.1	-	29	3904	c.3904delC	c.(3904-3906)catfs	p.H1302fs	NCOR2_ENST00000356219.3_Frame_Shift_Del_p.H1309fs|NCOR2_ENST00000429285.2_Frame_Shift_Del_p.H1292fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.H1292fs|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.H1293fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.H863fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1310					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCCGTCTCATGGGGGGGTCCT	0.632											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(3925-3927)atfs		nuclear receptor corepressor 2							40.0	47.0	45.0					12																	124832801		2037	4161	6198	SO:0001589	frameshift_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124832801delG	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3904delC	12.37:g.124832801delG	ENSP00000384018:p.His1302fs		OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1537	NCOR2_ENST00000429285.2_Frame_Shift_Del_p.H1292fs|NCOR2_ENST00000405201.1_Frame_Shift_Del_p.H1302fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.H1292fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.H863fs|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.H1293fs	p.H1309fs	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	30	4080	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1310					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Del	DEL	ENST00000405201.1	37	c.3925delC	CCDS41858.2																																																																																				0.632	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		7	161						7	161	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr12:133245023_133245024insG	ENST00000320574.5	-	19	2134_2135	c.2091_2092insC	c.(2089-2094)cccttgfs	p.PL697fs	POLE_ENST00000535270.1_Frame_Shift_Ins_p.PL670fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	697					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCTGGGAACAAGGGGGGGAACT	0.599								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(2089-2094)cctgttfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133245023_133245024insG		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2092dupC	12.37:g.133245030_133245030dupG	ENSP00000322570:p.Pro697fs					POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs	p.V698fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	19	2134_2135	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	698					Q13533|Q86VH9	Frame_Shift_Ins	INS	ENST00000320574.5	37	c.2091_2092insC	CCDS9278.1																																																																																				0.599	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		119	222						119	222	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32907421	32907421	+	Frame_Shift_Del	DEL	A	A	-	rs80359307|rs80359309		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:32907421delA	ENST00000380152.3	+	10	2039	c.1806delA	c.(1804-1806)ggafs	p.G602fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.G602fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	602					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTTATAAAGGAAAAAAAATAC	0.303			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(1804-1806)ggfs	Homologous recombination	breast cancer 2, early onset				53,4211		9,35,2088	30.0	32.0	31.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene		1.6	0.2	13	dbSNP_132	31	97,8137		17,63,4037	no	frameshift	BRCA2	NM_000059.3		26,98,6125	A1A1,A1R,RR		1.178,1.243,1.2002			32907421	150,12348	2203	4291	6494	SO:0001589	frameshift_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32907421delA	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1806delA	13.37:g.32907421delA	ENSP00000369497:p.Gly602fs	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Del_p.G602fs	p.G602fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	2033	+		Lung SC(185;0.0262)	602					O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	c.1806delA	CCDS9344.1																																																																																				0.303	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		12	46						12	46	---	---	---	---
RFC3	5983	broad.mit.edu	37	13	34399981	34399982	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:34399981_34399982insA	ENST00000380071.3	+	4	479_480	c.349_350insA	c.(349-351)caafs	p.Q117fs	RFC3_ENST00000434425.1_Frame_Shift_Ins_p.Q117fs	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	117					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		AACAGTGGCACAATCACAACAA	0.356																																						ENST00000380071.3																			0				lung(2)|skin(1)	3						c.(349-351)atcfs		replication factor C (activator 1) 3, 38kDa																																				SO:0001589	frameshift_variant	5983				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr13:34399981_34399982insA		CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"""ATPases / AAA-type"""	9971	protein-coding gene	gene with protein product	"""RFC, 38 kD subunit"", ""A1 38 kDa subunit"""	600405	"""replication factor C (activator 1) 3 (38kD)"""			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.351dupA	13.37:g.34399983_34399983dupA	ENSP00000369411:p.Gln117fs					RFC3_ENST00000434425.1_Frame_Shift_Ins_p.I117fs	p.I117fs	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)	4	479_480	+		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)	117					C9JU95|O15252|Q5W0E8	Frame_Shift_Ins	INS	ENST00000380071.3	37	c.349_350insA	CCDS9352.1																																																																																				0.356	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044450.2	NM_002915		19	63						19	63	---	---	---	---
NBEA	26960	broad.mit.edu	37	13	35672513	35672513	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:35672513delT	ENST00000400445.3	+	11	2185	c.1651delT	c.(1651-1653)tttfs	p.F551fs	NBEA_ENST00000379939.2_Frame_Shift_Del_p.F551fs|NBEA_ENST00000310336.4_Frame_Shift_Del_p.F551fs|NBEA_ENST00000540320.1_Frame_Shift_Del_p.F551fs	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	551					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGGAAAAGGCTTTTTAGTCAT	0.378																																						ENST00000400445.3																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(1651-1653)ttfs		neurobeachin							96.0	86.0	89.0					13																	35672513		1873	4122	5995	SO:0001589	frameshift_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35672513delT	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1651delT	13.37:g.35672513delT	ENSP00000383295:p.Phe551fs					NBEA_ENST00000379939.2_Frame_Shift_Del_p.F551fs|NBEA_ENST00000310336.4_Frame_Shift_Del_p.F551fs|NBEA_ENST00000540320.1_Frame_Shift_Del_p.F551fs	p.F551fs	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	11	2185	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	551					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Frame_Shift_Del	DEL	ENST00000400445.3	37	c.1651delT	CCDS45026.1																																																																																				0.378	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		4	5						4	5	---	---	---	---
DZIP1	22873	broad.mit.edu	37	13	96293851	96293853	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr13:96293851_96293853delAGA	ENST00000376829.2	-	5	1144_1146	c.293_295delTCT	c.(292-297)ttctgc>tgc	p.F98del	DZIP1_ENST00000347108.3_In_Frame_Del_p.F98del|DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000361156.3_In_Frame_Del_p.F98del|DZIP1_ENST00000361396.2_In_Frame_Del_p.F98del	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	98					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCCAGCTTGCAGAAGGTGATGTT	0.616																																						ENST00000347108.3																			0				endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(292-297)tgc>t		DAZ interacting zinc finger protein 1																																				SO:0001651	inframe_deletion	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96293851_96293853delAGA	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.293_295delTCT	13.37:g.96293851_96293853delAGA	ENSP00000366025:p.Phe98del					DZIP1_ENST00000361156.3_In_Frame_Del_p.FC98del|DZIP1_ENST00000376829.2_In_Frame_Del_p.FC98del|DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000361396.2_In_Frame_Del_p.FC98del	p.FC98del			Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		3	725_727	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		98					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	In_Frame_Del	DEL	ENST00000376829.2	37	c.293_295delTCT	CCDS9478.1																																																																																				0.616	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		47	162						47	162	---	---	---	---
LOC642426	642426	broad.mit.edu	37	14	19408019	19408019	+	lincRNA	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:19408019delA	ENST00000548050.1	-	0	279					NR_046104.1																						CTGTGGAGCCAAAAAAAAAAT	0.393																																						ENST00000548050.1																			0																																																			642426							g.chr14:19408019delA																													14.37:g.19408019delA								NR_046104.1						0	279	-									RNA	DEL	ENST00000548050.1	37																																																																																						0.393	RP11-536C10.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000408404.1			3	2						3	2	---	---	---	---
OR4Q3	441669	broad.mit.edu	37	14	20215772	20215772	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:20215772delT	ENST00000331723.1	+	1	186	c.186delT	c.(184-186)tatfs	p.Y62fs		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATGTATTATTTTTTAGGTC	0.408																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(184-186)tafs		olfactory receptor, family 4, subfamily Q, member 3							167.0	170.0	169.0					14																	20215772		2203	4300	6503	SO:0001589	frameshift_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215772delT	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.186delT	14.37:g.20215772delT	ENSP00000330049:p.Tyr62fs						p.Y62fs	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	186	+	all_cancers(95;0.00108)		62					Q6IEX4	Frame_Shift_Del	DEL	ENST00000331723.1	37	c.186delT	CCDS32020.1																																																																																				0.408	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			66	373						66	373	---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20389265	20389266	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:20389265_20389266insT	ENST00000315915.4	+	1	525_526	c.500_501insT	c.(499-504)ccttttfs	p.PF167fs		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	167						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(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGAACCTGCCTTTTTGTGGAC	0.441																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(499-501)cttfs		olfactory receptor, family 4, subfamily K, member 5																																				SO:0001589	frameshift_variant	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389265_20389266insT	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.505dupT	14.37:g.20389270_20389270dupT	ENSP00000319511:p.Pro167fs						p.L167fs	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	525_526	+	all_cancers(95;0.00108)		167					Q6IFA7	Frame_Shift_Ins	INS	ENST00000315915.4	37	c.500_501insT	CCDS32024.1																																																																																				0.441	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		7	768						7	768	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20858878	20858879	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:20858878_20858879insA	ENST00000262715.5	-	15	2335_2336	c.2295_2296insT	c.(2293-2298)tttgggfs	p.G766fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G658fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	766					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGGTATTTCCCAAAAGTATTCA	0.455																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(2293-2298)ttggaafs		telomerase-associated protein 1																																				SO:0001589	frameshift_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20858878_20858879insA		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2296dupT	14.37:g.20858882_20858882dupA	ENSP00000262715:p.Gly766fs					TEP1_ENST00000556935.1_Frame_Shift_Ins_p.LE657fs	p.LE765fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	15	2335_2336	-	all_cancers(95;0.00123)	all_lung(585;0.235)	765					A0AUV9	Frame_Shift_Ins	INS	ENST00000262715.5	37	c.2295_2296insT	CCDS9548.1																																																																																				0.455	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		11	76						11	76	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20876232	20876233	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:20876232_20876233delAC	ENST00000262715.5	-	2	406_407	c.366_367delGT	c.(364-369)gtgtctfs	p.S123fs	TEP1_ENST00000556935.1_Frame_Shift_Del_p.S123fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	123					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGCTGGCAGACACAGTGCTCT	0.525																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(364-369)gtctfs		telomerase-associated protein 1																																				SO:0001589	frameshift_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20876232_20876233delAC		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.366_367delGT	14.37:g.20876234_20876235delAC	ENSP00000262715:p.Ser123fs					TEP1_ENST00000556935.1_Frame_Shift_Del_p.VS122fs	p.VS122fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	2	406_407	-	all_cancers(95;0.00123)	all_lung(585;0.235)	122					A0AUV9	Frame_Shift_Del	DEL	ENST00000262715.5	37	c.366_367delGT	CCDS9548.1																																																																																				0.525	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		58	150						58	150	---	---	---	---
ARHGEF40	55701	broad.mit.edu	37	14	21546604	21546604	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:21546604delG	ENST00000298694.4	+	10	2330	c.2203delG	c.(2203-2205)gggfs	p.G736fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Del_p.G736fs			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	736						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCAGAGGGATGGGGGGGCCAT	0.627																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(2203-2205)ggfs		Rho guanine nucleotide exchange factor (GEF) 40							55.0	57.0	56.0					14																	21546604		2203	4300	6503	SO:0001589	frameshift_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21546604delG		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2203delG	14.37:g.21546604delG	ENSP00000298694:p.Gly736fs					ARHGEF40_ENST00000298693.3_Frame_Shift_Del_p.G736fs	p.G736fs			Q8TER5	ARH40_HUMAN			10	2330	+			736					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Frame_Shift_Del	DEL	ENST00000298694.4	37	c.2203delG	CCDS32041.1																																																																																				0.627	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			18	142						18	142	---	---	---	---
C14orf93	60686	broad.mit.edu	37	14	23457145	23457145	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23457145delT	ENST00000299088.6	-	6	1593	c.1164delA	c.(1162-1164)aaafs	p.K388fs	RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000397382.4_Frame_Shift_Del_p.K388fs|C14orf93_ENST00000341470.4_Frame_Shift_Del_p.K388fs|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000406429.2_Frame_Shift_Del_p.K388fs|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397377.1_Frame_Shift_Del_p.K208fs|C14orf93_ENST00000397379.3_Frame_Shift_Del_p.K388fs	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	388						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TCTTCTCCTCTTTTTCCTTCA	0.507																																						ENST00000299088.6																			0				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(1162-1164)aafs		chromosome 14 open reading frame 93							108.0	105.0	106.0					14																	23457145		2203	4300	6503	SO:0001589	frameshift_variant	60686					extracellular region		g.chr14:23457145delT	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.1164delA	14.37:g.23457145delT	ENSP00000299088:p.Lys388fs					RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000406429.2_Frame_Shift_Del_p.K388fs|C14orf93_ENST00000397377.1_Frame_Shift_Del_p.K208fs|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397379.3_Frame_Shift_Del_p.K388fs|RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000397382.4_Frame_Shift_Del_p.K388fs|C14orf93_ENST00000341470.4_Frame_Shift_Del_p.K388fs	p.K388fs	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN		GBM - Glioblastoma multiforme(265;0.0127)	6	1593	-	all_cancers(95;3.3e-05)		388					B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Frame_Shift_Del	DEL	ENST00000299088.6	37	c.1164delA	CCDS9583.1																																																																																				0.507	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		47	114						47	114	---	---	---	---
CDH24	64403	broad.mit.edu	37	14	23523833	23523835	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:23523833_23523835delCTC	ENST00000267383.5	-	4	756_758	c.664_666delGAG	c.(664-666)gagdel	p.E222del	CDH24_ENST00000397359.3_In_Frame_Del_p.E222del|CDH24_ENST00000487137.2_In_Frame_Del_p.E222del|CDH24_ENST00000554034.1_In_Frame_Del_p.E222del			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	222	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCACCAAGAACTCCTCCTGTGTC	0.626											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000397359.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(664-666)del		cadherin 24, type 2																																				SO:0001651	inframe_deletion	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23523833_23523835delCTC	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.664_666delGAG	14.37:g.23523836_23523838delCTC	ENSP00000267383:p.Glu222del		OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	CDH24_ENST00000554034.1_In_Frame_Del_p.E222del|CDH24_ENST00000487137.2_In_Frame_Del_p.E222del|CDH24_ENST00000267383.5_In_Frame_Del_p.E222del	p.E222del	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	5	923_925	-	all_cancers(95;3.3e-05)		222			Cadherin 2.		D3DS44|Q86UP1|Q9NT84	In_Frame_Del	DEL	ENST00000267383.5	37	c.664_666delGAG	CCDS9585.1																																																																																				0.626	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		44	98						44	98	---	---	---	---
IPO4	79711	broad.mit.edu	37	14	24648626	24648628	+	IGR	DEL	GAG	GAG	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:24648626_24648628delGAG	ENST00000354464.6	-	0	3646				REC8_ENST00000311457.3_In_Frame_Del_p.E426del|REC8_ENST00000559919.1_In_Frame_Del_p.E426del	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GGCAGCTGAAGAGGAGAAGTCCC	0.616																																						ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(1273-1275)del		REC8 meiotic recombination protein																																				SO:0001628	intergenic_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24648626_24648628delGAG	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24648629_24648631delGAG						REC8_ENST00000559919.1_In_Frame_Del_p.E426del	p.E426del			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	17	1872_1874	+			427			Glu-rich.		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	In_Frame_Del	DEL	ENST00000354464.6	37	c.1273_1275delGAG	CCDS9616.1																																																																																				0.616	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		59	185						59	185	---	---	---	---
NEMF	9147	broad.mit.edu	37	14	50272836	50272836	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:50272836delG	ENST00000298310.5	-	19	2209	c.1760delC	c.(1759-1761)ccafs	p.P587fs	NEMF_ENST00000546046.1_Frame_Shift_Del_p.P566fs|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Frame_Shift_Del_p.P545fs			O60524	NEMF_HUMAN	nuclear export mediator factor	587					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CAAGGTCCGTGGGGGGATGGG	0.468																																						ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(1759-1761)cafs		nuclear export mediator factor							98.0	83.0	88.0					14																	50272836		2203	4300	6503	SO:0001589	frameshift_variant	9147					cytoplasm|nucleus		g.chr14:50272836delG	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.1760delC	14.37:g.50272836delG	ENSP00000298310:p.Pro587fs					NEMF_ENST00000546046.1_Frame_Shift_Del_p.P566fs|NEMF_ENST00000545773.1_Frame_Shift_Del_p.P545fs|NEMF_ENST00000556925.1_5'UTR	p.P587fs			O60524	NEMF_HUMAN			19	2209	-			587					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Frame_Shift_Del	DEL	ENST00000298310.5	37	c.1760delC	CCDS9694.1																																																																																				0.468	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		10	40						10	40	---	---	---	---
FBXO34	55030	broad.mit.edu	37	14	55817580	55817580	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:55817580delA	ENST00000313833.4	+	2	717	c.472delA	c.(472-474)aaafs	p.K159fs	FBXO34_ENST00000440021.1_Frame_Shift_Del_p.K159fs	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	159										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AGGGGATCTTAAAAAAGCCAA	0.438																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(472-474)aafs		F-box protein 34							53.0	51.0	52.0					14																	55817580		2203	4300	6503	SO:0001589	frameshift_variant	55030							g.chr14:55817580delA	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.472delA	14.37:g.55817580delA	ENSP00000313159:p.Lys159fs					FBXO34_ENST00000440021.1_Frame_Shift_Del_p.K159fs	p.K159fs	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN			2	717	+			159					Q2VPB5|Q4VBP5|Q86TY4	Frame_Shift_Del	DEL	ENST00000313833.4	37	c.472delA	CCDS32086.1																																																																																				0.438	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			27	50						27	50	---	---	---	---
MTHFD1	4522	broad.mit.edu	37	14	64916254	64916254	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:64916254delG	ENST00000545908.1	+	24	2768	c.2539delG	c.(2539-2541)gggfs	p.G848fs	CTD-2555O16.2_ENST00000556640.1_RNA|ZBTB25_ENST00000555220.1_3'UTR|ZBTB25_ENST00000555424.1_3'UTR|MTHFD1_ENST00000216605.8_Frame_Shift_Del_p.G792fs|MTHFD1_ENST00000556284.1_3'UTR			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	792	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	CTGGGCAGAAGGGGGCAAGGG	0.567																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	ENST00000555709.1																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(2371-2373)ggfs		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						71.0	71.0	71.0					14																	64916254		2203	4300	6503	SO:0001589	frameshift_variant	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64916254delG	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2539delG	14.37:g.64916254delG	ENSP00000438588:p.Gly848fs					MTHFD1_ENST00000556284.1_3'UTR|ZBTB25_ENST00000555424.1_3'UTR|ZBTB25_ENST00000555220.1_3'UTR|MTHFD1_ENST00000216605.7_Frame_Shift_Del_p.G848fs|MTHFD1_ENST00000545908.1_Frame_Shift_Del_p.G848fs	p.G792fs	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	24	2758	+			792			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Frame_Shift_Del	DEL	ENST00000545908.1	37	c.2371delG																																																																																					0.567	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			33	110						33	110	---	---	---	---
ADAM21	8747	broad.mit.edu	37	14	70925553	70925553	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:70925553delG	ENST00000603540.1	+	2	1595	c.1337delG	c.(1336-1338)tgtfs	p.C446fs	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Frame_Shift_Del_p.C446fs	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	446	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGGGCTGCCTGTGCTTTTGGG	0.498																																						ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(1336-1338)ttfs		ADAM metallopeptidase domain 21							64.0	62.0	62.0					14																	70925553		2203	4300	6503	SO:0001589	frameshift_variant	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70925553delG	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1337delG	14.37:g.70925553delG	ENSP00000474385:p.Cys446fs					RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Frame_Shift_Del_p.C446fs	p.C446fs	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1595	+			446			Disintegrin.		O43507|Q2VPC6|Q32MR0	Frame_Shift_Del	DEL	ENST00000603540.1	37	c.1337delG	CCDS9804.1																																																																																				0.498	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			27	86						27	86	---	---	---	---
PAPLN	89932	broad.mit.edu	37	14	73731295	73731295	+	Splice_Site	DEL	G	G	-	rs564215769	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:73731295delG	ENST00000554301.1	+	21	3149		c.e21-1		PAPLN_ENST00000427855.1_Splice_Site|PAPLN_ENST00000381166.3_Splice_Site|PAPLN_ENST00000340738.5_Splice_Site|PAPLN_ENST00000555445.1_Splice_Site			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein							basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCTCATGACAGGGGGTGACAT	0.627																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.e22-1		papilin, proteoglycan-like sulfated glycoprotein							87.0	88.0	88.0					14																	73731295		2203	4300	6503	SO:0001630	splice_region_variant	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73731295delG	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.2987-1G>-	14.37:g.73731295delG						PAPLN_ENST00000555445.1_Splice_Site|PAPLN_ENST00000340738.5_Splice_Site|PAPLN_ENST00000381166.3_Splice_Site|PAPLN_ENST00000554301.1_Splice_Site				O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	22	3088	+								B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Splice_Site	DEL	ENST00000554301.1	37																																																																																						0.627	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462	Intron	74	181						74	181	---	---	---	---
NUMB	8650	broad.mit.edu	37	14	73759555	73759558	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:73759555_73759558delTCTC	ENST00000355058.3	-	8	612_615	c.334_337delGAGA	c.(334-339)gagaaafs	p.EK112fs	NUMB_ENST00000454166.4_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000356296.4_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000556772.1_5'UTR|NUMB_ENST00000554521.2_Frame_Shift_Del_p.EK101fs|NUMB_ENST00000555238.1_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000554546.1_Frame_Shift_Del_p.EK101fs|NUMB_ENST00000560335.1_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000555738.2_Frame_Shift_Del_p.EK101fs|NUMB_ENST00000555394.1_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000359560.3_Frame_Shift_Del_p.EK101fs|NUMB_ENST00000557597.1_Frame_Shift_Del_p.EK101fs|NUMB_ENST00000544991.3_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000559312.1_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000535282.1_Frame_Shift_Del_p.EK101fs			P49757	NUMB_HUMAN	numb homolog (Drosophila)	112	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		AAAGAAACTTTCTCTATCGTCTGG	0.441																																						ENST00000554546.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(301-306)aafs		numb homolog (Drosophila)																																				SO:0001589	frameshift_variant	8650				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		g.chr14:73759555_73759558delTCTC	L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.334_337delGAGA	14.37:g.73759555_73759558delTCTC	ENSP00000347169:p.Glu112fs					NUMB_ENST00000454166.4_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000359560.3_Frame_Shift_Del_p.EK101fs|NUMB_ENST00000559312.1_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000556772.1_5'UTR|NUMB_ENST00000555238.1_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000555394.1_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000355058.3_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000356296.4_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000560335.1_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000557597.1_Frame_Shift_Del_p.EK101fs|NUMB_ENST00000554521.2_Frame_Shift_Del_p.EK101fs|NUMB_ENST00000544991.3_Frame_Shift_Del_p.EK112fs|NUMB_ENST00000535282.1_Frame_Shift_Del_p.EK101fs|NUMB_ENST00000555738.2_Frame_Shift_Del_p.EK101fs	p.EK101fs	NM_001005745.1	NP_001005745.1	P49757	NUMB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)	7	657_660	-			112			PID.		B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Frame_Shift_Del	DEL	ENST00000355058.3	37	c.301_304delGAGA	CCDS32116.1																																																																																				0.441	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1			29	76						29	76	---	---	---	---
CLMN	79789	broad.mit.edu	37	14	95662949	95662949	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:95662949delT	ENST00000298912.4	-	10	2707	c.2594delA	c.(2593-2595)aagfs	p.K865fs	CLMN_ENST00000556441.1_5'Flank|CLMN_ENST00000557215.1_5'Flank	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	865					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.K865fs*10(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CCTTTTTTCCTTTTTTTTACT	0.408																																						ENST00000298912.4																			1	Deletion - Frameshift(1)	p.K865fs*10(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(2593-2595)agfs		calmin (calponin-like, transmembrane)							152.0	132.0	139.0					14																	95662949		2203	4300	6503	SO:0001589	frameshift_variant	79789					integral to membrane	actin binding	g.chr14:95662949delT	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2594delA	14.37:g.95662949delT	ENSP00000298912:p.Lys865fs						p.K865fs	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	10	2707	-			865					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Frame_Shift_Del	DEL	ENST00000298912.4	37	c.2594delA	CCDS9933.1																																																																																				0.408	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			24	44						24	44	---	---	---	---
BCL11B	64919	broad.mit.edu	37	14	99642353	99642353	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:99642353delC	ENST00000357195.3	-	4	829	c.820delG	c.(820-822)gtgfs	p.V274fs	BCL11B_ENST00000345514.2_Frame_Shift_Del_p.V203fs|BCL11B_ENST00000443726.2_Frame_Shift_Del_p.V80fs	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	274					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GACTGCGCCACGGCCTCCGGC	0.716			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(607-609)tgfs		B-cell CLL/lymphoma 11B (zinc finger protein)							7.0	9.0	8.0					14																	99642353		2141	4140	6281	SO:0001589	frameshift_variant	64919					nucleus	zinc ion binding	g.chr14:99642353delC	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.820delG	14.37:g.99642353delC	ENSP00000349723:p.Val274fs					BCL11B_ENST00000443726.2_Frame_Shift_Del_p.V80fs|BCL11B_ENST00000357195.3_Frame_Shift_Del_p.V274fs	p.V203fs	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	873	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	274					Q9H162	Frame_Shift_Del	DEL	ENST00000357195.3	37	c.607delG	CCDS9950.1																																																																																				0.716	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		7	15						7	15	---	---	---	---
IGHA2	3494	broad.mit.edu	37	14	106054633	106054633	+	RNA	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:106054633delG	ENST00000390539.2	-	0	99				AL928742.2_ENST00000578042.1_RNA|AL928742.1_ENST00000581377.1_RNA			P01877	IGHA2_HUMAN	immunoglobulin heavy constant alpha 2 (A2m marker)						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										AGTGGCTCCTGGGGGAAGAAG	0.637																																						ENST00000390539.2																			0																				69.0	77.0	74.0					14																	106054633		2072	4209	6281			3494							g.chr14:106054633delG	J00221		14q32.33	2012-10-02			ENSG00000211890	ENSG00000211890		"""Immunoglobulins / IGH locus"""	5479	other	immunoglobulin gene		147000					Standard	NG_001019		Approved			P01877	OTTHUMG00000152472		14.37:g.106054633delG														0	99	-									RNA	DEL	ENST00000390539.2	37																																																																																						0.637	IGHA2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326338.1	NG_001019		29	94						29	94	---	---	---	---
IGHV3-53	28420	broad.mit.edu	37	14	107048915	107048915	+	RNA	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr14:107048915delC	ENST00000390627.2	-	0	325									immunoglobulin heavy variable 3-53																		gtctcagggaccccccaggct	0.587																																						ENST00000390627.2																			0																				25.0	28.0	27.0					14																	107048915		1819	4041	5860			28420							g.chr14:107048915delC	M99679		14q32.33	2012-02-08			ENSG00000211967	ENSG00000211967		"""Immunoglobulins / IGH locus"""	5610	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151966		14.37:g.107048915delC														0	325	-									RNA	DEL	ENST00000390627.2	37																																																																																						0.587	IGHV3-53-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324612.1	NG_001019		7	133						7	133	---	---	---	---
RTF1	23168	broad.mit.edu	37	15	41750018	41750019	+	Frame_Shift_Del	DEL	AG	AG	-	rs28645240		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:41750018_41750019delAG	ENST00000389629.4	+	4	618_619	c.606_607delAG	c.(604-609)aaagagfs	p.E203fs		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	203	Glu-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		TGACAGAGAAAGAGAGAGAGCA	0.515																																						ENST00000389629.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(604-609)aaagfs		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41750018_41750019delAG	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.606_607delAG	15.37:g.41750026_41750027delAG	ENSP00000374280:p.Glu203fs						p.KE202fs	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	4	618_619	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	202			Glu-rich.		Q96BX6	Frame_Shift_Del	DEL	ENST00000389629.4	37	c.606_607delAG	CCDS32200.2																																																																																				0.515	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		22	136						22	136	---	---	---	---
EIF3J	8669	broad.mit.edu	37	15	44843099	44843099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:44843099delA	ENST00000535391.1	+	3	185	c.173delA	c.(172-174)gaafs	p.E58fs	EIF3J_ENST00000261868.5_Frame_Shift_Del_p.E58fs|EIF3J_ENST00000424492.3_Intron					eukaryotic translation initiation factor 3, subunit J									p.K60fs*36(1)		endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		GATGATGATGAAAAAAAAGAG	0.358																																						ENST00000261868.5																			1	Deletion - Frameshift(1)	p.K60fs*36(1)	large_intestine(1)	endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9						c.(172-174)gafs		eukaryotic translation initiation factor 3, subunit J							102.0	115.0	111.0					15																	44843099		2198	4298	6496	SO:0001589	frameshift_variant	8669					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr15:44843099delA	U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"""eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"""	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	ENST00000535391.1:c.173delA	15.37:g.44843099delA	ENSP00000440221:p.Glu58fs					EIF3J_ENST00000424492.3_Intron|EIF3J_ENST00000535391.1_Frame_Shift_Del_p.E58fs	p.E58fs	NM_003758.2	NP_003749.2	O75822	EIF3J_HUMAN		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)	3	311	+		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	58			Sufficient for interaction with EIF3B.			Frame_Shift_Del	DEL	ENST00000535391.1	37	c.173delA																																																																																					0.358	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396804.1	NM_003758		16	98						16	98	---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55912892	55912892	+	Frame_Shift_Del	DEL	A	A	-	rs189224717		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:55912892delA	ENST00000389286.4	-	19	3214	c.3167delT	c.(3166-3168)ttcfs	p.F1056fs		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGAGTCTTGGAAAAAAAACCA	0.318																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(3166-3168)tcfs		protogenin							62.0	61.0	61.0					15																	55912892		1788	4052	5840	SO:0001589	frameshift_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55912892delA	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3167delT	15.37:g.55912892delA	ENSP00000373937:p.Phe1056fs						p.F1056fs	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	19	3214	-			1056						Frame_Shift_Del	DEL	ENST00000389286.4	37	c.3167delT	CCDS42040.1																																																																																				0.318	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		15	36						15	36	---	---	---	---
RNF111	54778	broad.mit.edu	37	15	59376343	59376343	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:59376343delC	ENST00000557998.1	+	9	2600	c.2313delC	c.(2311-2313)cgcfs	p.R771fs	RNF111_ENST00000348370.4_Frame_Shift_Del_p.R771fs|RNF111_ENST00000561186.1_Frame_Shift_Del_p.R780fs|RNF111_ENST00000434298.1_Frame_Shift_Del_p.R780fs|RNF111_ENST00000559209.1_Frame_Shift_Del_p.R780fs	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	771	Pro-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CACATGAACGCCCCCCACCCC	0.443																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2311-2313)cgfs		ring finger protein 111							91.0	77.0	82.0					15																	59376343		2192	4291	6483	SO:0001589	frameshift_variant	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59376343delC	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2313delC	15.37:g.59376343delC	ENSP00000452732:p.Arg771fs					RNF111_ENST00000434298.1_Frame_Shift_Del_p.R780fs|RNF111_ENST00000559209.1_Frame_Shift_Del_p.R780fs|RNF111_ENST00000557998.1_Frame_Shift_Del_p.R771fs|RNF111_ENST00000561186.1_Frame_Shift_Del_p.R780fs	p.R771fs	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	9	2746	+			771			Pro-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Frame_Shift_Del	DEL	ENST00000557998.1	37	c.2313delC	CCDS58366.1																																																																																				0.443	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		16	57						16	57	---	---	---	---
TM6SF1	53346	broad.mit.edu	37	15	83776522	83776525	+	Splice_Site	DEL	TGAG	TGAG	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:83776522_83776525delTGAG	ENST00000322019.9	+	1	364_366	c.90_92delTGAG	c.(88-93)catgag>cag	p.HE30fs	TM6SF1_ENST00000379390.6_Splice_Site_p.HE30fs|TM6SF1_ENST00000565774.1_Splice_Site_p.HE30fs|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000379386.4_Splice_Site_p.HE30fs			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	30						integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CGGCCCAGCATGAGTGAGTGAgcc	0.721																																						ENST00000322019.9																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.e1+1		transmembrane 6 superfamily member 1																																				SO:0001630	splice_region_variant	53346					integral to membrane		g.chr15:83776522_83776525delTGAG	AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.92+1TGAG>-	15.37:g.83776530_83776533delTGAG						TM6SF1_ENST00000379386.4_Splice_Site_p.Q30_splice|TM6SF1_ENST00000565774.1_Splice_Site_p.Q30_splice|TM6SF1_ENST00000379390.6_Splice_Site_p.Q30_splice|TM6SF1_ENST00000564988.1_3'UTR	p.Q30_splice			Q9BZW5	TM6S1_HUMAN			1	364_366	+			30					A8K7T5|H3BU56|Q4U0U5	Splice_Site	DEL	ENST00000322019.9	37	c.92_splice	CCDS10323.1																																																																																				0.721	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003	Frame_Shift_Del	7	33						7	33	---	---	---	---
TICRR	90381	broad.mit.edu	37	15	90168411	90168411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:90168411delC	ENST00000268138.7	+	20	4975	c.4870delC	c.(4870-4872)cccfs	p.P1625fs	TICRR_ENST00000560985.1_Frame_Shift_Del_p.P1624fs|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1625					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CTATGTGTCACCCCCCTGCCC	0.627																																						ENST00000268138.7																			0											c.(4870-4872)ccfs		TOPBP1-interacting checkpoint and replication regulator							40.0	38.0	39.0					15																	90168411		2200	4299	6499	SO:0001589	frameshift_variant	90381							g.chr15:90168411delC	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4870delC	15.37:g.90168411delC	ENSP00000268138:p.Pro1625fs					KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Frame_Shift_Del_p.P1624fs	p.P1625fs							20	4975	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Frame_Shift_Del	DEL	ENST00000268138.7	37	c.4870delC	CCDS10352.2																																																																																				0.627	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		13	60						13	60	---	---	---	---
KIF7	374654	broad.mit.edu	37	15	90190140	90190140	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:90190140delC	ENST00000394412.3	-	7	1785	c.1709delG	c.(1708-1710)ggtfs	p.G570fs		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	570	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GGCGTGGGCACCCCCCAGGGG	0.687											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(1708-1710)gtfs		kinesin family member 7							39.0	38.0	38.0					15																	90190140		2200	4298	6498	SO:0001589	frameshift_variant	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90190140delC	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1709delG	15.37:g.90190140delC	ENSP00000377934:p.Gly570fs		OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1273		p.G570fs	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		7	1785	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		570					Q3SXY0|Q6UXE9|Q8IW72	Frame_Shift_Del	DEL	ENST00000394412.3	37	c.1709delG	CCDS32325.2																																																																																				0.687	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		25	67						25	67	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320301	90320301	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr15:90320301delG	ENST00000341735.3	+	1	713	c.713delG	c.(712-714)aggfs	p.R238fs	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	238					mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CGCCTGGGGAGGGGGGTCCAC	0.716																																						ENST00000341735.3																			0				kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(712-714)agfs		mesoderm posterior 2 homolog (mouse)							11.0	14.0	13.0					15																	90320301		1861	4078	5939	SO:0001589	frameshift_variant	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320301delG		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.713delG	15.37:g.90320301delG	ENSP00000342392:p.Arg238fs					MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	p.R238fs	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	713	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		238					Q7RTU2	Frame_Shift_Del	DEL	ENST00000341735.3	37	c.713delG	CCDS42078.1																																																																																				0.716	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		16	25						16	25	---	---	---	---
MSLN	10232	broad.mit.edu	37	16	815293	815293	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:815293delC	ENST00000382862.3	+	8	789	c.694delC	c.(694-696)cccfs	p.P233fs	MSLN_ENST00000545450.2_Frame_Shift_Del_p.P233fs|MSLN_ENST00000566549.1_Frame_Shift_Del_p.P233fs|MSLN_ENST00000563941.1_Frame_Shift_Del_p.P233fs	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	233					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGGCGGGGGACCCCCCTACGG	0.687																																						ENST00000566549.1																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(694-696)ccfs		mesothelin							5.0	6.0	6.0					16																	815293		2005	4032	6037	SO:0001589	frameshift_variant	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:815293delC	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.694delC	16.37:g.815293delC	ENSP00000372313:p.Pro233fs					MSLN_ENST00000545450.2_Frame_Shift_Del_p.P233fs|MSLN_ENST00000382862.3_Frame_Shift_Del_p.P233fs|MSLN_ENST00000563941.1_Frame_Shift_Del_p.P233fs	p.P233fs			Q13421	MSLN_HUMAN			8	1111	+		Hepatocellular(780;0.00335)	233					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Frame_Shift_Del	DEL	ENST00000382862.3	37	c.694delC	CCDS32356.1																																																																																				0.687	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			8	16						8	16	---	---	---	---
RPUSD1	113000	broad.mit.edu	37	16	836088	836088	+	Frame_Shift_Del	DEL	G	G	-	rs370254306		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:836088delG	ENST00000561734.1	-	5	1044	c.801delC	c.(799-801)cccfs	p.P267fs	CHTF18_ENST00000317063.6_5'Flank|RPUSD1_ENST00000567114.1_Frame_Shift_Del_p.P138fs|CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000565809.1_3'UTR|MSLNL_ENST00000442466.1_5'Flank|RPUSD1_ENST00000007264.2_Frame_Shift_Del_p.P267fs|CHTF18_ENST00000262315.9_5'Flank			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	267	Pro-rich.				pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				TGCCTGGCCTGGGGCCCCTAT	0.731																																						ENST00000561734.1																			0				endometrium(3)|lung(2)|skin(2)	7						c.(799-801)ccfs		RNA pseudouridylate synthase domain containing 1							11.0	15.0	13.0					16																	836088		2143	4214	6357	SO:0001589	frameshift_variant	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:836088delG	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.801delC	16.37:g.836088delG	ENSP00000455026:p.Pro267fs					RPUSD1_ENST00000007264.2_Frame_Shift_Del_p.P267fs|RPUSD1_ENST00000567114.1_Frame_Shift_Del_p.P138fs|RPUSD1_ENST00000565809.1_3'UTR	p.P267fs			Q9UJJ7	RUSD1_HUMAN			5	1044	-		Hepatocellular(780;0.00335)	267			Pro-rich.		D3DU66	Frame_Shift_Del	DEL	ENST00000561734.1	37	c.801delC	CCDS10426.1																																																																																				0.731	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1	NM_058192		21	40						21	40	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2140883	2140886	+	Splice_Site	DEL	ACCT	ACCT	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2140883_2140886delACCT	ENST00000262304.4	-	43	12210_12212	c.12002_12004delAGGT	c.(12001-12006)aaggtc>atc	p.KV4001fs	MIR1225_ENST00000408729.1_RNA|PKD1_ENST00000423118.1_Splice_Site_p.KV4000fs|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4001					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCAGCCCTCACCTTGACCAAAAG	0.711																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72	GRCh37	CS076660	PKD1	S		c.e43+1		polycystic kidney disease 1 (autosomal dominant)																																				SO:0001630	splice_region_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2140883_2140886delACCT	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.12003+1AGGT>-	16.37:g.2140883_2140886delACCT						PKD1_ENST00000423118.1_Splice_Site_p.I4000_splice	p.I4001_splice	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			43	12210_12212	-			4001					Q15140|Q15141	Splice_Site	DEL	ENST00000262304.4	37	c.12003_splice	CCDS32369.1																																																																																				0.711	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1		Frame_Shift_Del	10	32						10	32	---	---	---	---
C16orf59	80178	broad.mit.edu	37	16	2510684	2510684	+	Frame_Shift_Del	DEL	C	C	-	rs373363264		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:2510684delC	ENST00000361837.4	+	3	251	c.186delC	c.(184-186)gacfs	p.D62fs	C16orf59_ENST00000563531.1_Frame_Shift_Del_p.D62fs|C16orf59_ENST00000569496.1_Frame_Shift_Del_p.D62fs|RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000483320.1_5'UTR	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	62										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				ATGGAGAGGACCCCCTTCCAG	0.642																																						ENST00000569496.1																			0				lung(1)|skin(1)|urinary_tract(1)	3						c.(184-186)gafs		chromosome 16 open reading frame 59							27.0	31.0	30.0					16																	2510684		1993	4158	6151	SO:0001589	frameshift_variant	80178							g.chr16:2510684delC	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.186delC	16.37:g.2510684delC	ENSP00000355022:p.Asp62fs					C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000361837.4_Frame_Shift_Del_p.D62fs|C16orf59_ENST00000563531.1_Frame_Shift_Del_p.D62fs	p.D62fs			Q7L2K0	CP059_HUMAN			3	245	+		Ovarian(90;0.17)	62					B4DXD7|Q96H61|Q9H872	Frame_Shift_Del	DEL	ENST00000361837.4	37	c.186delC	CCDS10468.2																																																																																				0.642	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108		13	49						13	49	---	---	---	---
CLDN6	9074	broad.mit.edu	37	16	3065456	3065456	+	Frame_Shift_Del	DEL	C	C	-	rs536531302		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3065456delC	ENST00000396925.1	-	3	995	c.567delG	c.(565-567)gggfs	p.G189fs	TNFRSF12A_ENST00000573001.1_5'Flank|CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Frame_Shift_Del_p.G189fs			P56747	CLD6_HUMAN	claudin 6	189					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGCCCTGGGACCCCCCCGAGG	0.642																																						ENST00000396925.1																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(565-567)ggfs		claudin 6							27.0	33.0	31.0					16																	3065456		2198	4300	6498	SO:0001589	frameshift_variant	9074				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3065456delC	AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"""Claudins"""	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.567delG	16.37:g.3065456delC	ENSP00000380131:p.Gly189fs					CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Frame_Shift_Del_p.G189fs	p.G189fs			P56747	CLD6_HUMAN			3	995	-			189					B3KQP9|D3DUA5	Frame_Shift_Del	DEL	ENST00000396925.1	37	c.567delG	CCDS10488.1																																																																																				0.642	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195		23	68						23	68	---	---	---	---
HCFC1R1	54985	broad.mit.edu	37	16	3073266	3073266	+	Frame_Shift_Del	DEL	G	G	-	rs548084088		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3073266delG	ENST00000248089.3	-	3	553	c.249delC	c.(247-249)cccfs	p.P83fs	THOC6_ENST00000326266.8_5'Flank|THOC6_ENST00000253952.9_5'Flank|HCFC1R1_ENST00000574151.1_Frame_Shift_Del_p.P64fs|HCFC1R1_ENST00000396916.1_Frame_Shift_Del_p.P83fs|HCFC1R1_ENST00000574980.1_Frame_Shift_Del_p.P83fs|THOC6_ENST00000574549.1_5'Flank|THOC6_ENST00000575576.1_5'Flank|HCFC1R1_ENST00000354679.3_Frame_Shift_Del_p.P81fs|HCFC1R1_ENST00000572355.1_Frame_Shift_Del_p.P43fs	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	83						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M65fs*1(1)		breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						AGAAGGTCATGGGGGGGCTGC	0.617																																						ENST00000248089.3																			1	Deletion - Frameshift(1)	p.M65fs*1(1)	large_intestine(1)	breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						c.(247-249)ccfs		host cell factor C1 regulator 1 (XPO1 dependent)							54.0	60.0	58.0					16																	3073266		2198	4300	6498	SO:0001589	frameshift_variant	54985					cytoplasm|nucleus		g.chr16:3073266delG	AK000575	CCDS10490.1, CCDS32375.1, CCDS73815.1	16p13.3	2008-02-05	2005-12-01			ENSG00000103145			21198	protein-coding gene	gene with protein product			"""host cell factor C1 regulator 1 (XPO1 dependant)"""			12235138	Standard	NM_001002018		Approved	HPIP, FLJ20568	uc002csy.1	Q9NWW0		ENST00000248089.3:c.249delC	16.37:g.3073266delG	ENSP00000248089:p.Pro83fs					HCFC1R1_ENST00000574151.1_Frame_Shift_Del_p.P64fs|HCFC1R1_ENST00000354679.3_Frame_Shift_Del_p.P81fs|HCFC1R1_ENST00000574980.1_Frame_Shift_Del_p.P83fs|HCFC1R1_ENST00000396916.1_Frame_Shift_Del_p.P83fs|HCFC1R1_ENST00000572355.1_Frame_Shift_Del_p.P43fs	p.P83fs	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN			3	553	-			83					D3DUA7|Q68EN7	Frame_Shift_Del	DEL	ENST00000248089.3	37	c.249delC	CCDS10490.1																																																																																				0.617	HCFC1R1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436969.1	NM_017885		28	95						28	95	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3790495	3790496	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3790495_3790496insA	ENST00000262367.5	-	24	4846_4847	c.4037_4038insT	c.(4036-4038)ttgfs	p.L1346fs	CREBBP_ENST00000382070.3_Frame_Shift_Ins_p.L1308fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1346	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCTGGCGCCGCAAAAATTTGTT	0.569			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4036-4038)tcgfs		CREB binding protein																																				SO:0001589	frameshift_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3790495_3790496insA	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4038dupT	16.37:g.3790500_3790500dupA	ENSP00000262367:p.Leu1346fs					CREBBP_ENST00000382070.3_Frame_Shift_Ins_p.S1308fs	p.S1346fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	24	4846_4847	-		Ovarian(90;0.0266)	1346			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Ins	INS	ENST00000262367.5	37	c.4037_4038insT	CCDS10509.1																																																																																				0.569	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		23	73						23	73	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3820641	3820641	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3820641delG	ENST00000262367.5	-	14	3619	c.2810delC	c.(2809-2811)ccgfs	p.P937fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.P899fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	937					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGCCACAGACGGGGGCTGAAC	0.647			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(2809-2811)cgfs		CREB binding protein							89.0	107.0	101.0					16																	3820641		2197	4300	6497	SO:0001589	frameshift_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3820641delG	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2810delC	16.37:g.3820641delG	ENSP00000262367:p.Pro937fs					CREBBP_ENST00000382070.3_Frame_Shift_Del_p.P899fs	p.P937fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	14	3619	-		Ovarian(90;0.0266)	937					D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Del	DEL	ENST00000262367.5	37	c.2810delC	CCDS10509.1																																																																																				0.647	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		91	296						91	296	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3830807	3830809	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:3830807_3830809delAGG	ENST00000262367.5	-	8	2556_2558	c.1747_1749delCCT	c.(1747-1749)cctdel	p.P583del	CREBBP_ENST00000382070.3_In_Frame_Del_p.P545del	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	583					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CGGTGCTAGAAGGAGGAGCTGCT	0.478			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(1747-1749)del		CREB binding protein																																				SO:0001651	inframe_deletion	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3830807_3830809delAGG	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1747_1749delCCT	16.37:g.3830810_3830812delAGG	ENSP00000262367:p.Pro583del					CREBBP_ENST00000382070.3_In_Frame_Del_p.P545del	p.P583del	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	8	2556_2558	-		Ovarian(90;0.0266)	583					D3DUC9|O00147|Q16376|Q4LE28	In_Frame_Del	DEL	ENST00000262367.5	37	c.1747_1749delCCT	CCDS10509.1																																																																																				0.478	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		22	76						22	76	---	---	---	---
NUDT16L1	84309	broad.mit.edu	37	16	4745140	4745142	+	In_Frame_Del	DEL	AGA	AGA	-	rs367705497		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:4745140_4745142delAGA	ENST00000304301.6	+	3	629_631	c.596_598delAGA	c.(595-600)cagaag>cag	p.K201del	NUDT16L1_ENST00000586252.1_In_Frame_Del_p.K161del|NUDT16L1_ENST00000405142.1_3'UTR|NUDT16L1_ENST00000586536.1_3'UTR	NM_032349.3	NP_115725.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	201	Interaction with PXN. {ECO:0000250}.					cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						ACCGAGAAGCAGAAGAAGGCCCT	0.616																																						ENST00000304301.6																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(595-600)cag>c		nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1																																				SO:0001651	inframe_deletion	84309					cytoplasm	hydrolase activity	g.chr16:4745140_4745142delAGA	BC006223	CCDS10519.1, CCDS59257.1	16p13.3	2008-02-05			ENSG00000168101	ENSG00000168101		"""Nudix motif containing"""	28154	protein-coding gene	gene with protein product						11805099	Standard	NM_032349		Approved	SDOS	uc002cxe.3	Q9BRJ7	OTTHUMG00000129471	ENST00000304301.6:c.596_598delAGA	16.37:g.4745143_4745145delAGA	ENSP00000306670:p.Lys201del					NUDT16L1_ENST00000586536.1_3'UTR|NUDT16L1_ENST00000586252.1_In_Frame_Del_p.QK159del|NUDT16L1_ENST00000405142.1_3'UTR	p.QK199del	NM_032349.3	NP_115725.1	Q9BRJ7	SDOS_HUMAN			3	629_631	+			199			Interaction with PXN (By similarity).		Q8NAI2	In_Frame_Del	DEL	ENST00000304301.6	37	c.596_598delAGA	CCDS10519.1																																																																																				0.616	NUDT16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251634.1	NM_032349		27	92						27	92	---	---	---	---
ZC3H7A	29066	broad.mit.edu	37	16	11855799	11855799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:11855799delT	ENST00000396516.2	-	17	2377	c.2180delA	c.(2179-2181)aacfs	p.N727fs	ZC3H7A_ENST00000355758.4_Frame_Shift_Del_p.N727fs|ZC3H7A_ENST00000575984.1_5'Flank			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	727						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						ATATTTTCTGTTTTTGTCTGG	0.338																																						ENST00000396516.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						c.(2179-2181)acfs		zinc finger CCCH-type containing 7A							156.0	133.0	141.0					16																	11855799		2196	4299	6495	SO:0001589	frameshift_variant	29066					nucleus	nucleic acid binding|zinc ion binding	g.chr16:11855799delT	AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.2180delA	16.37:g.11855799delT	ENSP00000379773:p.Asn727fs					ZC3H7A_ENST00000355758.4_Frame_Shift_Del_p.N727fs	p.N727fs			Q8IWR0	Z3H7A_HUMAN			17	2377	-			727					D3DUG5|Q9NPE9	Frame_Shift_Del	DEL	ENST00000396516.2	37	c.2180delA	CCDS10550.1																																																																																				0.338	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		19	47						19	47	---	---	---	---
NDE1	54820	broad.mit.edu	37	16	15785048	15785049	+	Frame_Shift_Ins	INS	-	-	C	rs587781093|rs113493697	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:15785048_15785049insC	ENST00000396353.2	+	7	1397_1398	c.571_572insC	c.(571-573)accfs	p.T191fs	NDE1_ENST00000396354.1_Frame_Shift_Ins_p.T191fs|NDE1_ENST00000396355.1_Frame_Shift_Ins_p.T191fs|NDE1_ENST00000342673.5_Frame_Shift_Ins_p.T191fs			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	191	Interaction with CENPF. {ECO:0000250}.			T -> I (in Ref. 3; AAH33900). {ECO:0000305}.	centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GAAACCCAGGACCCCCATGCCC	0.609																																						ENST00000396355.1																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						c.(571-573)cccfs		nudE neurodevelopment protein 1																																				SO:0001589	frameshift_variant	54820				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding	g.chr16:15785048_15785049insC	AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"""nudE nuclear distribution gene E homolog 1 (A. nidulans)"", ""nudE nuclear distribution E homolog 1 (A. nidulans)"""			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.576dupC	16.37:g.15785053_15785053dupC	ENSP00000379641:p.Thr191fs					NDE1_ENST00000396354.1_Frame_Shift_Ins_p.P191fs|NDE1_ENST00000342673.5_Frame_Shift_Ins_p.P191fs|NDE1_ENST00000396353.2_Frame_Shift_Ins_p.P191fs	p.P191fs	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN			7	1397_1398	+			191	T -> I (in Ref. 3; AAH33900).		Interaction with CENPF (By similarity).		Q49AQ2	Frame_Shift_Ins	INS	ENST00000396353.2	37	c.571_572insC																																																																																					0.609	NDE1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017668		20	108						20	108	---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24942336	24942337	+	Frame_Shift_Ins	INS	-	-	G	rs144991183		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:24942336_24942337insG	ENST00000289968.6	-	19	2352_2353	c.2283_2284insC	c.(2281-2286)cccagtfs	p.S762fs	ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.S684fs|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	762	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGCGGAGTACTGGGGGGCGTTG	0.609																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(2281-2286)ccgtacfs		Rho GTPase activating protein 17																																				SO:0001589	frameshift_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24942336_24942337insG	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2284dupC	16.37:g.24942342_24942342dupG	ENSP00000289968:p.Ser762fs					ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.Y684fs|ARHGAP17_ENST00000441763.2_3'UTR	p.Y762fs	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	19	2352_2353	-			762			Pro-rich.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Frame_Shift_Ins	INS	ENST00000289968.6	37	c.2283_2284insC	CCDS32409.1																																																																																				0.609	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		29	261						29	261	---	---	---	---
ZNF768	79724	broad.mit.edu	37	16	30536854	30536855	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:30536854_30536855insA	ENST00000380412.5	-	2	781_782	c.606_607insT	c.(604-609)tttgggfs	p.G203fs	ZNF768_ENST00000562803.1_Frame_Shift_Ins_p.G172fs	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	203					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGCTGCTCCCCAAACCCCTGAG	0.564																																						ENST00000380412.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(604-609)ttgggafs		zinc finger protein 768																																				SO:0001589	frameshift_variant	79724				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	g.chr16:30536854_30536855insA	BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.607dupT	16.37:g.30536857_30536857dupA	ENSP00000369777:p.Gly203fs					ZNF768_ENST00000562803.1_Frame_Shift_Ins_p.L171fs	p.L202fs	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN			2	781_782	-			202					Q569L7|Q96CX4	Frame_Shift_Ins	INS	ENST00000380412.5	37	c.606_607insT	CCDS10681.2																																																																																				0.564	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255522.2	NM_024671		58	176						58	176	---	---	---	---
RP11-19N8.4	0	broad.mit.edu	37	16	33070233	33070233	+	lincRNA	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:33070233delC	ENST00000561541.1	-	0	291																											CGGCTTTTTGCCCCCCCTGCC	0.637																																						ENST00000561541.1																			0																																																			0							g.chr16:33070233delC																													16.37:g.33070233delC														0	291	-									RNA	DEL	ENST00000561541.1	37																																																																																						0.637	RP11-19N8.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432096.1			4	3						4	3	---	---	---	---
TOX3	27324	broad.mit.edu	37	16	52473205	52473206	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:52473205_52473206delGA	ENST00000219746.9	-	7	1946_1947	c.1662_1663delTC	c.(1660-1665)tctcagfs	p.Q556fs	TOX3_ENST00000407228.3_Frame_Shift_Del_p.Q551fs	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	556	Gln-rich.				apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TGGTGCTGCTGAGAGGCTGGCT	0.55																																						ENST00000219746.9																			0				NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						c.(1660-1665)tcagfs		TOX high mobility group box family member 3																																				SO:0001589	frameshift_variant	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52473205_52473206delGA	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.1662_1663delTC	16.37:g.52473207_52473208delGA	ENSP00000219746:p.Gln556fs					TOX3_ENST00000407228.3_Frame_Shift_Del_p.SQ549fs	p.SQ554fs	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN			7	1946_1947	-			554			Gln-rich.		B4DRD0|B5MCW4	Frame_Shift_Del	DEL	ENST00000219746.9	37	c.1662_1663delTC	CCDS54009.1																																																																																				0.550	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		7	52						7	52	---	---	---	---
RSPRY1	89970	broad.mit.edu	37	16	57255241	57255241	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:57255241delG	ENST00000537866.1	+	10	1948	c.1075delG	c.(1075-1077)gggfs	p.G359fs	RSPRY1_ENST00000394420.4_Frame_Shift_Del_p.G359fs			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	359	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TGTGGATGCCGGGGTATGGTA	0.488																																						ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(1075-1077)ggfs		ring finger and SPRY domain containing 1							178.0	166.0	170.0					16																	57255241		2198	4300	6498	SO:0001589	frameshift_variant	89970					extracellular region	zinc ion binding	g.chr16:57255241delG	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.1075delG	16.37:g.57255241delG	ENSP00000443176:p.Gly359fs					RSPRY1_ENST00000394420.4_Frame_Shift_Del_p.G359fs	p.G359fs			Q96DX4	RSPRY_HUMAN			10	1948	+			359			B30.2/SPRY.		Q6UX21|Q8ND53	Frame_Shift_Del	DEL	ENST00000537866.1	37	c.1075delG	CCDS10775.1																																																																																				0.488	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		46	144						46	144	---	---	---	---
CMTM1	113540	broad.mit.edu	37	16	66603929	66603930	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:66603929_66603930insT	ENST00000457188.2	+	2	293_294	c.172_173insT	c.(172-174)gttfs	p.V58fs	CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000528324.1_Frame_Shift_Ins_p.V58fs|CMTM1_ENST00000379500.2_Frame_Shift_Ins_p.V175fs|CMTM1_ENST00000328020.6_Frame_Shift_Ins_p.V175fs|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000531885.1_Intron	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	58	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CTGCATTGTCGTTTTTTTTATT	0.347																																						ENST00000379500.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(523-525)tttfs		CKLF-like MARVEL transmembrane domain containing 1																																				SO:0001589	frameshift_variant	113540				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66603929_66603930insT	AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.180dupT	16.37:g.66603937_66603937dupT	ENSP00000405729:p.Val58fs					CMTM1_ENST00000528324.1_Frame_Shift_Ins_p.F58fs|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000457188.2_Frame_Shift_Ins_p.F58fs|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000328020.6_Frame_Shift_Ins_p.F175fs|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000332695.7_Intron	p.F175fs	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)	2	590_591	+		Ovarian(137;0.0563)	58					Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Frame_Shift_Ins	INS	ENST00000457188.2	37	c.523_524insT	CCDS45503.1																																																																																				0.347	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999		44	157						44	157	---	---	---	---
CTCF	10664	broad.mit.edu	37	16	67645338	67645339	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:67645338_67645339insA	ENST00000264010.4	+	3	1047_1048	c.603_604insA	c.(604-606)aaafs	p.K202fs	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	202					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGCCACCAGCCAAAAAAACAAA	0.475																																					Colon(175;1200 1966 6945 23069 27405)	ENST00000264010.4																			0				breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(601-606)gcaaaafs		CCCTC-binding factor (zinc finger protein)																																				SO:0001589	frameshift_variant	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67645338_67645339insA	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.610dupA	16.37:g.67645345_67645345dupA	ENSP00000264010:p.Lys202fs					CTCF_ENST00000401394.1_Intron	p.AK201fs	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	3	1047_1048	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	201					B5MC38|Q53XI7|Q59EL8	Frame_Shift_Ins	INS	ENST00000264010.4	37	c.603_604insA	CCDS10841.1																																																																																				0.475	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		22	76						22	76	---	---	---	---
DDX19B	11269	broad.mit.edu	37	16	70365775	70365776	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:70365775_70365776delGT	ENST00000288071.6	+	10	1419_1420	c.1174_1175delGT	c.(1174-1176)gtgfs	p.V392fs	DDX19B_ENST00000563206.1_Frame_Shift_Del_p.V397fs|DDX19B_ENST00000451014.3_Frame_Shift_Del_p.V366fs|DDX19B_ENST00000355992.3_Frame_Shift_Del_p.V361fs|DDX19B_ENST00000393657.2_Frame_Shift_Del_p.V283fs|RP11-529K1.2_ENST00000562077.1_RNA|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000568625.1_Frame_Shift_Del_p.V283fs|DDX19B_ENST00000563392.1_Frame_Shift_Del_p.V283fs	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	392	C-terminal lobe.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GACCACCAACGTGTGTGCCCGC	0.599											OREG0023914	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(26;382 757 1343 9728 15939)	ENST00000288071.6																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9						c.(1174-1176)gfs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B																																				SO:0001589	frameshift_variant	11269				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr16:70365775_70365776delGT	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.1174_1175delGT	16.37:g.70365779_70365780delGT	ENSP00000288071:p.Val392fs		OREG0023914	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000563206.1_Frame_Shift_Del_p.V397fs|DDX19B_ENST00000355992.3_Frame_Shift_Del_p.V361fs|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000451014.3_Frame_Shift_Del_p.V366fs|DDX19B_ENST00000568625.1_Frame_Shift_Del_p.V283fs|DDX19B_ENST00000393657.2_Frame_Shift_Del_p.V283fs|DDX19B_ENST00000563392.1_Frame_Shift_Del_p.V283fs	p.V392fs	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN			10	1419_1420	+		Ovarian(137;0.0694)	392			Helicase C-terminal.		B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Frame_Shift_Del	DEL	ENST00000288071.6	37	c.1174_1175delGT	CCDS10888.1																																																																																				0.599	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268965.3	NM_007242		12	75						12	75	---	---	---	---
RP11-77K12.5	0	broad.mit.edu	37	16	75538613	75538613	+	RNA	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:75538613delG	ENST00000571737.1	-	0	408																											ACAGCTCAGCGGCTGCTTCTG	0.537																																						ENST00000571737.1																			0																																																			0							g.chr16:75538613delG																													16.37:g.75538613delG														0	408	-									RNA	DEL	ENST00000571737.1	37																																																																																						0.537	RP11-77K12.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000439454.1			28	152						28	152	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81155069	81155069	+	RNA	DEL	A	A	-	rs557576474		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:81155069delA	ENST00000534142.1	-	0	1000				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						actccatctcaaaaaaaaaaa	0.527																																						ENST00000534142.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2																																						114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81155069delA	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81155069delA						PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA				Q7Z442	PK1L2_HUMAN			0	1000	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	DEL	ENST00000534142.1	37																																																																																						0.527	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			3	6						3	6	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81187706	81187707	+	RNA	DEL	CT	CT	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:81187706_81187707delCT	ENST00000525539.1	-	0	4264_4265				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTGGTGGGGCTCTCTCTCTCC	0.604																																						ENST00000533478.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2																																						114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81187706_81187707delCT	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81187714_81187715delCT						PKD1L2_ENST00000525539.1_RNA		NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN			0	2320_2321	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	DEL	ENST00000525539.1	37																																																																																						0.604	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			11	27						11	27	---	---	---	---
JPH3	57338	broad.mit.edu	37	16	87678537	87678537	+	Frame_Shift_Del	DEL	C	C	-	rs563154923		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr16:87678537delC	ENST00000284262.2	+	2	1298	c.1056delC	c.(1054-1056)atcfs	p.I352fs		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	352					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGAACCTCATCCCCCTGCGGG	0.662																																						ENST00000284262.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1054-1056)atfs		junctophilin 3							38.0	46.0	43.0					16																	87678537		2198	4300	6498	SO:0001589	frameshift_variant	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87678537delC	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1056delC	16.37:g.87678537delC	ENSP00000284262:p.Ile352fs						p.I352fs	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	1298	+			352					D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Frame_Shift_Del	DEL	ENST00000284262.2	37	c.1056delC	CCDS10962.1																																																																																				0.662	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			21	66						21	66	---	---	---	---
PITPNA	5306	broad.mit.edu	37	17	1456400	1456400	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:1456400delT	ENST00000313486.7	-	3	350	c.95delA	c.(94-96)aatfs	p.N32fs	PITPNA_ENST00000539476.1_Frame_Shift_Del_p.N32fs	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	32					axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		ACCCGTTTCATTTTTACTGGC	0.517																																						ENST00000313486.7																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(94-96)atfs		phosphatidylinositol transfer protein, alpha							118.0	119.0	119.0					17																	1456400		2061	4192	6253	SO:0001589	frameshift_variant	5306				axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding	g.chr17:1456400delT	M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"""phosphotidylinositol transfer protein"""	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.95delA	17.37:g.1456400delT	ENSP00000316809:p.Asn32fs					PITPNA_ENST00000539476.1_Frame_Shift_Del_p.N32fs	p.N32fs	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)	3	350	-			32						Frame_Shift_Del	DEL	ENST00000313486.7	37	c.95delA	CCDS45563.1																																																																																				0.517	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438927.3			42	145						42	145	---	---	---	---
ZNF594	84622	broad.mit.edu	37	17	5096766	5096766	+	5'Flank	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:5096766delA	ENST00000575779.1	-	0	0				RP11-333E1.1_ENST00000575601.1_RNA|RP11-333E1.1_ENST00000571689.1_RNA	NM_032530.1	NP_115919.1	Q96JF6	ZN594_HUMAN	zinc finger protein 594						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						tcaaaaaaataaaaaaaaaaa	0.507																																						ENST00000571689.1																			0																																																	SO:0001631	upstream_gene_variant	100130950							g.chr17:5096766delA	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059		17.37:g.5096766delA	Exception_encountered					RP11-333E1.1_ENST00000575601.1_RNA		NR_034082.1						0	60	+								Q6RFS0	RNA	DEL	ENST00000575779.1	37		CCDS42241.1																																																																																				0.507	ZNF594-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255082.2	XM_290737		3	5						3	5	---	---	---	---
EPN2	22905	broad.mit.edu	37	17	19232949	19232950	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:19232949_19232950insA	ENST00000314728.5	+	9	1884_1885	c.1400_1401insA	c.(1399-1404)tcaaaafs	p.SK467fs	EPN2_ENST00000347697.2_Frame_Shift_Ins_p.SK410fs|EPN2_ENST00000395626.1_Frame_Shift_Ins_p.SK467fs|EPN2_ENST00000571254.1_Frame_Shift_Ins_p.SK403fs|EPN2_ENST00000395618.3_Frame_Shift_Ins_p.SK182fs|EPN2_ENST00000575595.1_Frame_Shift_Ins_p.SK175fs|EPN2_ENST00000395620.2_Frame_Shift_Ins_p.SK410fs	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	467	6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)	p.T470fs*19(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CTTCGGACTTCAAAAAAAACAG	0.396																																						ENST00000314728.5																			1	Insertion - Frameshift(1)	p.T470fs*19(1)	lung(1)	breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(1399-1401)taafs		epsin 2																																				SO:0001589	frameshift_variant	22905				endocytosis		lipid binding	g.chr17:19232949_19232950insA	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1408dupA	17.37:g.19232957_19232957dupA	ENSP00000320543:p.Ser467fs					EPN2_ENST00000571254.1_Frame_Shift_Ins_p.*403fs|EPN2_ENST00000395626.1_Frame_Shift_Ins_p.*467fs|EPN2_ENST00000347697.2_Frame_Shift_Ins_p.*410fs|EPN2_ENST00000575595.1_Frame_Shift_Ins_p.*175fs|EPN2_ENST00000395620.2_Frame_Shift_Ins_p.*410fs|EPN2_ENST00000395618.3_Frame_Shift_Ins_p.*182fs	p.*467fs	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			9	1884_1885	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		467			6 X 3 AA repeats of [DE]-P-W.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Frame_Shift_Ins	INS	ENST00000314728.5	37	c.1400_1401insA	CCDS11203.1																																																																																				0.396	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		28	86						28	86	---	---	---	---
KCNJ12	3768	broad.mit.edu	37	17	21319454	21319459	+	In_Frame_Del	DEL	CCATCA	CCATCA	-	rs140687028	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:21319454_21319459delCCATCA	ENST00000583088.1	+	3	1695_1700	c.800_805delCCATCA	c.(799-807)cccatcacc>ccc	p.IT268del	KCNJ12_ENST00000331718.5_In_Frame_Del_p.IT268del	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	268					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.P267H(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CTGGTGTCGCCCATCACCATCTTGCA	0.607										Prostate(3;0.18)																												ENST00000583088.1																			1	Substitution - Missense(1)	p.P267H(1)	lung(1)	NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(799-807)ccc>c		potassium inwardly-rectifying channel, subfamily J, member 12																																				SO:0001651	inframe_deletion	3768							g.chr17:21319454_21319459delCCATCA	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.800_805delCCATCA	17.37:g.21319454_21319459delCCATCA	ENSP00000463778:p.Ile268_Thr269del	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_In_Frame_Del_p.PIT267del	p.PIT267del	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1695_1700	+								O43401|Q15756|Q8NG63	In_Frame_Del	DEL	ENST00000583088.1	37	c.800_805delCCATCA	CCDS11219.1																																																																																				0.607	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		9	124						9	124	---	---	---	---
CRYBA1	1411	broad.mit.edu	37	17	27579135	27579137	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:27579135_27579137delGAG	ENST00000225387.3	+	4	270_272	c.269_271delGAG	c.(268-273)agagga>aga	p.G91del		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	91	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATCCTGGAGAGAGGAGAATACCC	0.493											OREG0024293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000225387.3																			0				breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(268-273)aga>a		crystallin, beta A1																																				SO:0001651	inframe_deletion	1411				visual perception	soluble fraction	structural constituent of eye lens	g.chr17:27579135_27579137delGAG		CCDS11249.1	17q11.2-q12	2008-07-18			ENSG00000108255	ENSG00000108255			2394	protein-coding gene	gene with protein product	"""eye lens structural protein"""	123610		CRYB1		3745196, 3770741	Standard	NM_005208		Approved		uc002hdw.3	P05813	OTTHUMG00000132729	ENST00000225387.3:c.269_271delGAG	17.37:g.27579138_27579140delGAG	ENSP00000225387:p.Gly91del		OREG0024293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	795		p.RG90del	NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		4	270_272	+			90			Beta/gamma crystallin 'Greek key' 2.		Q13633|Q14CM9	In_Frame_Del	DEL	ENST00000225387.3	37	c.269_271delGAG	CCDS11249.1																																																																																				0.493	CRYBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256071.2	NM_005208		26	112						26	112	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29553477	29553478	+	Frame_Shift_Ins	INS	-	-	C	rs587781807		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:29553477_29553478insC	ENST00000358273.4	+	18	2409_2410	c.2026_2027insC	c.(2026-2028)accfs	p.T676fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.T676fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	676					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.P678fs*10(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGCAGCGGAACCCCCCCGATT	0.46			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Deletion - Frameshift(1)	p.0?(8)|p.?(4)|p.P678fs*10(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)|haematopoietic_and_lymphoid_tissue(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2026-2028)cccfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29553477_29553478insC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2033dupC	17.37:g.29553484_29553484dupC	ENSP00000351015:p.Thr676fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Ins_p.P676fs	p.P676fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	18	2409_2410	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	676					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	c.2026_2027insC	CCDS42292.1																																																																																				0.460	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		14	67						14	67	---	---	---	---
EVI2A	2123	broad.mit.edu	37	17	29645893	29645893	+	Frame_Shift_Del	DEL	T	T	-	rs571666003		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:29645893delT	ENST00000462804.2	-	2	538	c.139delA	c.(139-141)attfs	p.I47fs	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron|CTD-2370N5.3_ENST00000578584.1_5'Flank|EVI2A_ENST00000461237.1_Frame_Shift_Del_p.I47fs|NF1_ENST00000581113.2_Intron|EVI2A_ENST00000247270.3_Frame_Shift_Del_p.I70fs	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	47					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		TTGTTTTGAATAACTGAATCC	0.373																																						ENST00000247270.3																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(208-210)ttfs		ecotropic viral integration site 2A							173.0	166.0	169.0					17																	29645893		2203	4300	6503	SO:0001589	frameshift_variant	2123					integral to membrane	transmembrane receptor activity	g.chr17:29645893delT	M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.139delA	17.37:g.29645893delT	ENSP00000420557:p.Ile47fs					NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|NF1_ENST00000581113.2_Intron|EVI2A_ENST00000462804.2_Frame_Shift_Del_p.I47fs|EVI2A_ENST00000461237.1_Frame_Shift_Del_p.I47fs	p.I70fs	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)	3	544	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	47					B2R5X2|B4DHX8	Frame_Shift_Del	DEL	ENST00000462804.2	37	c.208delA	CCDS42293.1																																																																																				0.373	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		58	150						58	150	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37687472	37687472	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:37687472delG	ENST00000447079.4	+	14	4409	c.4376delG	c.(4375-4377)tggfs	p.W1459fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.W1450fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1459					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GGCCTTCACTGGGGGGGCCCA	0.562			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(4375-4377)tgfs		cyclin-dependent kinase 12							42.0	49.0	47.0					17																	37687472		2198	4293	6491	SO:0001589	frameshift_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37687472delG	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.4376delG	17.37:g.37687472delG	ENSP00000398880:p.Trp1459fs	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Frame_Shift_Del_p.W1450fs	p.W1459fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			14	4409	+			1459					A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Del	DEL	ENST00000447079.4	37	c.4376delG	CCDS11337.1																																																																																				0.562	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		28	117						28	117	---	---	---	---
CCR7	1236	broad.mit.edu	37	17	38715180	38715180	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:38715180delT	ENST00000246657.2	-	2	87	c.25delA	c.(25-27)agcfs	p.S9fs	CCR7_ENST00000579344.1_Frame_Shift_Del_p.S3fs	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	9					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				ACCAGCACGCTTTTCATTGGT	0.507																																						ENST00000246657.2																			0				breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(25-27)gcfs		chemokine (C-C motif) receptor 7							75.0	69.0	71.0					17																	38715180		2203	4300	6503	SO:0001589	frameshift_variant	1236				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding	g.chr17:38715180delT		CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.25delA	17.37:g.38715180delT	ENSP00000246657:p.Ser9fs					CCR7_ENST00000579344.1_Frame_Shift_Del_p.S3fs	p.S9fs	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN			2	87	-		Breast(137;0.000496)	9						Frame_Shift_Del	DEL	ENST00000246657.2	37	c.25delA	CCDS11369.1																																																																																				0.507	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257222.1			15	74						15	74	---	---	---	---
KRT28	162605	broad.mit.edu	37	17	38953467	38953467	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:38953467delC	ENST00000306658.7	-	4	822	c.757delG	c.(757-759)gtafs	p.V253fs		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GCGAGGTCTACCCCCGGGGCC	0.597																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(757-759)tafs		keratin 28							69.0	70.0	70.0					17																	38953467		2203	4300	6503	SO:0001589	frameshift_variant	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38953467delC	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.757delG	17.37:g.38953467delC	ENSP00000305263:p.Val253fs						p.V253fs	NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			4	822	-		Breast(137;0.000301)	253			Linker 12.|Rod.			Frame_Shift_Del	DEL	ENST00000306658.7	37	c.757delG	CCDS11376.1																																																																																				0.597	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		12	143						12	143	---	---	---	---
KRT14	3861	broad.mit.edu	37	17	39742887	39742887	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:39742887delC	ENST00000167586.6	-	1	286	c.200delG	c.(199-201)ggcfs	p.G68fs		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	68	Head.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GCCATAGCCGCCCCCCAGCCC	0.682																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(199-201)gcfs		keratin 14							23.0	30.0	28.0					17																	39742887		2181	4269	6450	SO:0001589	frameshift_variant	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39742887delC	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.200delG	17.37:g.39742887delC	ENSP00000167586:p.Gly68fs						p.G68fs	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			1	286	-		Breast(137;0.000307)	68			Head.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Frame_Shift_Del	DEL	ENST00000167586.6	37	c.200delG	CCDS11400.1																																																																																				0.682	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		7	22						7	22	---	---	---	---
HOXB3	3213	broad.mit.edu	37	17	46628440	46628440	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:46628440delC	ENST00000470495.1	-	2	1999	c.552delG	c.(550-552)gggfs	p.G184fs	HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000490677.1_Frame_Shift_Del_p.G50fs|HOXB3_ENST00000472863.1_Frame_Shift_Del_p.G111fs|HOXB3_ENST00000476342.1_Frame_Shift_Del_p.G184fs|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Frame_Shift_Del_p.G52fs|HOXB3_ENST00000489475.1_Frame_Shift_Del_p.G111fs|HOXB3_ENST00000311626.4_Frame_Shift_Del_p.G184fs|HOXB3_ENST00000460160.1_Frame_Shift_Del_p.G52fs|HOXB3_ENST00000498678.1_Frame_Shift_Del_p.G184fs|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	184					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						ACGCCGCCGACCCCGGGGGGC	0.761																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(550-552)ggfs		homeobox B3							22.0	25.0	24.0					17																	46628440		2198	4294	6492	SO:0001589	frameshift_variant	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628440delC		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.552delG	17.37:g.46628440delC	ENSP00000417207:p.Gly184fs					HOXB3_ENST00000311626.4_Frame_Shift_Del_p.G184fs|HOXB3_ENST00000472863.1_Frame_Shift_Del_p.G111fs|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Frame_Shift_Del_p.G50fs|HOXB3_ENST00000489475.1_Frame_Shift_Del_p.G111fs|HOXB3_ENST00000460160.1_Frame_Shift_Del_p.G52fs|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000485909.2_Frame_Shift_Del_p.G52fs|HOXB3_ENST00000498678.1_Frame_Shift_Del_p.G184fs|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000476342.1_Frame_Shift_Del_p.G184fs	p.G184fs			P14651	HXB3_HUMAN			2	1999	-			184					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Frame_Shift_Del	DEL	ENST00000470495.1	37	c.552delG	CCDS11528.1																																																																																				0.761	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			19	74						19	74	---	---	---	---
TMEM92	162461	broad.mit.edu	37	17	48356598	48356598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:48356598delC	ENST00000300433.3	+	6	519	c.409delC	c.(409-411)cccfs	p.P139fs	TMEM92_ENST00000507382.1_Frame_Shift_Del_p.P139fs|RP11-893F2.9_ENST00000508851.1_RNA	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	139	Pro-rich.					integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						CACAGAGCCACCCCCTCCCTA	0.597																																						ENST00000300433.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						c.(409-411)ccfs		transmembrane protein 92							129.0	145.0	140.0					17																	48356598		2203	4300	6503	SO:0001589	frameshift_variant	162461					integral to membrane		g.chr17:48356598delC		CCDS11562.1	17q21.33	2005-12-13							26579	protein-coding gene	gene with protein product						12975309	Standard	NM_153229		Approved	FLJ33318	uc002iqn.2	Q6UXU6		ENST00000300433.3:c.409delC	17.37:g.48356598delC	ENSP00000300433:p.Pro139fs					TMEM92_ENST00000507382.1_Frame_Shift_Del_p.P139fs	p.P139fs	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN			6	519	+			139			Pro-rich.		Q8NBF0	Frame_Shift_Del	DEL	ENST00000300433.3	37	c.409delC	CCDS11562.1																																																																																				0.597	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367053.2	NM_153229		91	384						91	384	---	---	---	---
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:48433967delC	ENST00000017003.2	+	8	1627	c.1578delC	c.(1576-1578)tacfs	p.Y526fs	XYLT2_ENST00000507602.1_Frame_Shift_Del_p.Y526fs	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	526					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ATGGCAGCTACCCCCCCGGCA	0.602																																						ENST00000017003.2																			1	Insertion - Frameshift(1)	p.G529fs*17(1)	large_intestine(1)	endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(1576-1578)tafs		xylosyltransferase II							65.0	65.0	65.0					17																	48433967		2203	4300	6503	SO:0001589	frameshift_variant	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48433967delC	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1578delC	17.37:g.48433967delC	ENSP00000017003:p.Tyr526fs					XYLT2_ENST00000507602.1_Frame_Shift_Del_p.Y526fs	p.Y526fs	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			8	1627	+	Breast(11;7.18e-19)		526					Q6UY41|Q86V00	Frame_Shift_Del	DEL	ENST00000017003.2	37	c.1578delC	CCDS11563.1																																																																																				0.602	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		39	90						39	90	---	---	---	---
LUC7L3	51747	broad.mit.edu	37	17	48819046	48819046	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:48819046delA	ENST00000505658.1	+	5	569	c.380delA	c.(379-381)gaafs	p.E127fs	LUC7L3_ENST00000240304.1_Frame_Shift_Del_p.E127fs|LUC7L3_ENST00000393227.2_Frame_Shift_Del_p.E127fs|LUC7L3_ENST00000544170.1_Frame_Shift_Del_p.E51fs			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	127					mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AAAAATGAAGAAAAAATTCAG	0.363																																						ENST00000505658.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						c.(379-381)gafs		LUC7-like 3 (S. cerevisiae)							70.0	63.0	66.0					17																	48819046		2203	4300	6503	SO:0001589	frameshift_variant	51747				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	g.chr17:48819046delA		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.380delA	17.37:g.48819046delA	ENSP00000425092:p.Glu127fs					LUC7L3_ENST00000393227.2_Frame_Shift_Del_p.E127fs|LUC7L3_ENST00000544170.1_Frame_Shift_Del_p.E51fs|LUC7L3_ENST00000240304.1_Frame_Shift_Del_p.E127fs	p.E127fs			O95232	LC7L3_HUMAN			5	569	+			127					B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Frame_Shift_Del	DEL	ENST00000505658.1	37	c.380delA	CCDS11573.1																																																																																				0.363	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		15	63						15	63	---	---	---	---
WFIKKN2	124857	broad.mit.edu	37	17	48917825	48917825	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:48917825delG	ENST00000311378.4	+	2	1704	c.1176delG	c.(1174-1176)cagfs	p.Q392fs	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.Q299fs	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	392	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CCGCCCTGCAGGGGCCCTGCA	0.647																																						ENST00000311378.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(1174-1176)cafs		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2							35.0	35.0	35.0					17																	48917825		2203	4299	6502	SO:0001589	frameshift_variant	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917825delG	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1176delG	17.37:g.48917825delG	ENSP00000311184:p.Gln392fs					WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.Q299fs|RP11-506D12.5_ENST00000572491.2_RNA	p.Q392fs	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1704	+			392			BPTI/Kunitz inhibitor 2.		Q6UXZ9	Frame_Shift_Del	DEL	ENST00000311378.4	37	c.1176delG	CCDS11575.1																																																																																				0.647	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		19	68						19	68	---	---	---	---
HSF5	124535	broad.mit.edu	37	17	56557547	56557548	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:56557547_56557548insG	ENST00000323777.3	-	2	740_741	c.631_632insC	c.(631-633)cacfs	p.H211fs		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	211					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTGTGGTCGTGGGATGGAGTT	0.475																																						ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(631-633)cgafs		heat shock transcription factor family member 5																																				SO:0001589	frameshift_variant	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56557547_56557548insG	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.632dupC	17.37:g.56557550_56557550dupG	ENSP00000313243:p.His211fs						p.R211fs	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			2	740_741	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		211					Q08EH7|Q8N7V2	Frame_Shift_Ins	INS	ENST00000323777.3	37	c.631_632insC	CCDS32690.1																																																																																				0.475	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		37	87						37	87	---	---	---	---
MED13	9969	broad.mit.edu	37	17	60033826	60033826	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:60033826delT	ENST00000397786.2	-	24	5573	c.5497delA	c.(5497-5499)agtfs	p.S1834fs		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1834					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTAGCAGAACTTTTTTTCCGA	0.363																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(5497-5499)gtfs		mediator complex subunit 13							88.0	80.0	83.0					17																	60033826		1795	4074	5869	SO:0001589	frameshift_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60033826delT	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5497delA	17.37:g.60033826delT	ENSP00000380888:p.Ser1834fs						p.S1834fs	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			24	5573	-			1834					B2RU05|O60334	Frame_Shift_Del	DEL	ENST00000397786.2	37	c.5497delA	CCDS42366.1																																																																																				0.363	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		20	83						20	83	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66131476	66131476	+	RNA	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:66131476delC	ENST00000590019.1	-	0	298									leucine rich repeat containing 37, member A16, pseudogene																		CGCCCAGGAGCCCCCCTGACT	0.652																																						ENST00000590019.1																			0																																																			651250							g.chr17:66131476delC			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66131476delC														0	298	-									RNA	DEL	ENST00000590019.1	37																																																																																						0.652	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			8	22						8	22	---	---	---	---
CDC42EP4	23580	broad.mit.edu	37	17	71281934	71281934	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:71281934delC	ENST00000335793.3	-	2	1100	c.706delG	c.(706-708)gagfs	p.E236fs	CDC42EP4_ENST00000439510.2_Frame_Shift_Del_p.E166fs|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	236					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			TAACCACCCTCCCCCTCCTCG	0.672																																						ENST00000335793.3																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(706-708)agfs		CDC42 effector protein (Rho GTPase binding) 4							49.0	45.0	46.0					17																	71281934		2202	4299	6501	SO:0001589	frameshift_variant	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71281934delC	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.706delG	17.37:g.71281934delC	ENSP00000338258:p.Glu236fs					CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Frame_Shift_Del_p.E166fs	p.E236fs			Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	1100	-			236					B3KUS7|O95828|Q96FT3	Frame_Shift_Del	DEL	ENST00000335793.3	37	c.706delG	CCDS11695.1																																																																																				0.672	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		11	56						11	56	---	---	---	---
SDK2	54549	broad.mit.edu	37	17	71344855	71344855	+	Frame_Shift_Del	DEL	G	G	-	rs191673430		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:71344855delG	ENST00000392650.3	-	44	6048	c.6048delC	c.(6046-6048)cccfs	p.P2016fs	SDK2_ENST00000388726.3_Frame_Shift_Del_p.P1997fs|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2016					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGCTGGGCCTGGGGGGAGACC	0.657																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(6046-6048)ccfs		sidekick cell adhesion molecule 2							44.0	44.0	44.0					17																	71344855		2203	4300	6503	SO:0001589	frameshift_variant	54549				cell adhesion	integral to membrane		g.chr17:71344855delG	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6048delC	17.37:g.71344855delG	ENSP00000376421:p.Pro2016fs					SDK2_ENST00000388726.3_Frame_Shift_Del_p.P1997fs|SDK2_ENST00000410094.1_5'UTR	p.P2016fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			44	6048	-			2016					A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Frame_Shift_Del	DEL	ENST00000392650.3	37	c.6048delC	CCDS45769.1																																																																																				0.657	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		18	68						18	68	---	---	---	---
ATP5H	10476	broad.mit.edu	37	17	73038718	73038718	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:73038718delT	ENST00000301587.4	-	2	75	c.28delA	c.(28-30)accfs	p.T10fs	RN7SL573P_ENST00000485340.2_RNA|KCTD2_ENST00000581589.1_Intron|ATP5H_ENST00000344546.4_Frame_Shift_Del_p.T10fs|KCTD2_ENST00000584767.1_Intron	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	10					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			lung(1)|skin(1)	2	all_lung(278;0.226)					CAGTCAATGGTTTTTAGAGCA	0.418																																						ENST00000301587.4																			0				lung(1)|skin(1)	2						c.(28-30)ccfs		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d							127.0	130.0	129.0					17																	73038718		2203	4300	6503	SO:0001589	frameshift_variant	10476				ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity	g.chr17:73038718delT	AF087135	CCDS11712.1, CCDS32727.1	17q25	2014-01-24	2010-06-11		ENSG00000167863	ENSG00000167863		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	845	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d"""			11042152	Standard	NM_006356		Approved	ATPQ, ATP5JD	uc002jmn.1	O75947	OTTHUMG00000179219	ENST00000301587.4:c.28delA	17.37:g.73038718delT	ENSP00000301587:p.Thr10fs					ATP5H_ENST00000344546.4_Frame_Shift_Del_p.T10fs|KCTD2_ENST00000581589.1_Intron|KCTD2_ENST00000584767.1_Intron	p.T10fs	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN			2	75	-	all_lung(278;0.226)		10					B2R5L6|Q9H3J4	Frame_Shift_Del	DEL	ENST00000301587.4	37	c.28delA	CCDS11712.1																																																																																				0.418	ATP5H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445318.1	NM_006356		59	166						59	166	---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73725372	73725373	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:73725372_73725373insC	ENST00000200181.3	+	7	780_781	c.593_594insC	c.(592-597)gaccccfs	p.DP198fs	ITGB4_ENST00000450894.3_Frame_Shift_Ins_p.DP198fs|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Frame_Shift_Ins_p.DP198fs|ITGB4_ENST00000449880.2_Frame_Shift_Ins_p.DP198fs|ITGB4_ENST00000339591.3_Frame_Shift_Ins_p.DP198fs	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	198	VWFA.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.D198D(1)|p.F201fs*9(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCAACAGTGACCCCCCCTTCT	0.599																																						ENST00000200181.3																			2	Deletion - Frameshift(1)|Substitution - coding silent(1)	p.D198D(1)|p.F201fs*9(1)	haematopoietic_and_lymphoid_tissue(1)|lung(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(592-594)gccfs		integrin, beta 4			,,	1,4263		0,1,2131					,,	5.6	0.7			84	2,8252		0,2,4125	no	frameshift,frameshift,frameshift	ITGB4	NM_001005731.1,NM_001005619.1,NM_000213.3	,,	0,3,6256	A1A1,A1R,RR		0.0242,0.0235,0.024	,,	,,		3,12515				SO:0001589	frameshift_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73725372_73725373insC		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.600dupC	17.37:g.73725379_73725379dupC	ENSP00000200181:p.Asp198fs					ITGB4_ENST00000579662.1_Frame_Shift_Ins_p.A198fs|ITGB4_ENST00000450894.3_Frame_Shift_Ins_p.A198fs|ITGB4_ENST00000449880.2_Frame_Shift_Ins_p.A198fs|ITGB4_ENST00000339591.3_Frame_Shift_Ins_p.A198fs|ITGB4_ENST00000584558.1_3'UTR	p.A198fs	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		7	780_781	+	all_cancers(13;1.5e-07)		198			VWFA.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Frame_Shift_Ins	INS	ENST00000200181.3	37	c.593_594insC	CCDS11727.1																																																																																				0.599	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			32	63						32	63	---	---	---	---
ZACN	353174	broad.mit.edu	37	17	74077706	74077707	+	Frame_Shift_Ins	INS	-	-	G	rs146722649|rs569770443		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr17:74077706_74077707insG	ENST00000334586.5	+	7	833_834	c.750_751insG	c.(751-753)gggfs	p.G251fs	EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000589210.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	251	Leu-rich.				ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CTGACGTGTGCGGGGGGTTGCT	0.614																																						ENST00000334586.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(748-753)tgggggfs		zinc activated ligand-gated ion channel																																				SO:0001589	frameshift_variant	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74077706_74077707insG	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.756dupG	17.37:g.74077712_74077712dupG	ENSP00000334854:p.Gly251fs					EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron	p.WG250fs	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN			7	833_834	+			250			Leu-rich.		Q2TB29|Q6ZWK3|Q86YW4	Frame_Shift_Ins	INS	ENST00000334586.5	37	c.750_751insG	CCDS11740.2																																																																																				0.614	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		59	199						59	199	---	---	---	---
RNMT	8731	broad.mit.edu	37	18	13746253	13746253	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:13746253delA	ENST00000383314.2	+	9	1414	c.1174delA	c.(1174-1176)aaafs	p.K393fs	RNMT_ENST00000592764.1_Frame_Shift_Del_p.K393fs|RNMT_ENST00000262173.3_Frame_Shift_Del_p.K393fs|RNMT_ENST00000535051.1_Frame_Shift_Del_p.K151fs|RNMT_ENST00000589866.1_Frame_Shift_Del_p.K393fs|RNMT_ENST00000543302.2_Frame_Shift_Del_p.K393fs			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	393	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)	p.T394fs*19(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						ACTAGTCTACAAAAAAACATT	0.308																																					GBM(29;474 594 19092 36647 41529)	ENST00000383314.2																			1	Deletion - Frameshift(1)	p.T394fs*19(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						c.(1174-1176)aafs		RNA (guanine-7-) methyltransferase							65.0	70.0	68.0					18																	13746253		2202	4299	6501	SO:0001589	frameshift_variant	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13746253delA	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.1174delA	18.37:g.13746253delA	ENSP00000372804:p.Lys393fs					RNMT_ENST00000592764.1_Frame_Shift_Del_p.K393fs|RNMT_ENST00000535051.1_Frame_Shift_Del_p.K151fs|RNMT_ENST00000262173.3_Frame_Shift_Del_p.K393fs|RNMT_ENST00000543302.2_Frame_Shift_Del_p.K393fs|RNMT_ENST00000589866.1_Frame_Shift_Del_p.K393fs	p.K393fs			O43148	MCES_HUMAN			9	1414	+			393					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Frame_Shift_Del	DEL	ENST00000383314.2	37	c.1174delA	CCDS11867.1																																																																																				0.308	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		22	74						22	74	---	---	---	---
TTC39C	125488	broad.mit.edu	37	18	21705516	21705517	+	Splice_Site	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:21705516_21705517insA	ENST00000317571.3	+	10	1656		c.e10+2		TTC39C_ENST00000540918.2_Splice_Site|TTC39C_ENST00000304621.6_Splice_Site|RNU5A-6P_ENST00000384136.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C											breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TGAGTCAAGGTAAAAAATTTAA	0.431																																						ENST00000540918.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.e5+2		tetratricopeptide repeat domain 39C																																				SO:0001630	splice_region_variant	125488						binding	g.chr18:21705516_21705517insA	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.1420+2->A	18.37:g.21705522_21705522dupA						TTC39C_ENST00000304621.6_Splice_Site|TTC39C_ENST00000317571.3_Splice_Site				Q8N584	TT39C_HUMAN			5	749	+								B7WP63|J3QRR1|Q0VAJ2|Q8N284	Splice_Site	INS	ENST00000317571.3	37		CCDS45839.1																																																																																				0.431	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211	Intron	41	110						41	110	---	---	---	---
OSBPL1A	114876	broad.mit.edu	37	18	21751417	21751417	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:21751417delA	ENST00000319481.3	-	23	2453	c.2247delT	c.(2245-2247)tttfs	p.F749fs	OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.F367fs|OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.F236fs|RNA5SP452_ENST00000363004.1_RNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	749					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ATTCCTTACCAAAAAGGCCAC	0.308																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2245-2247)ttfs		oxysterol binding protein-like 1A							87.0	91.0	90.0					18																	21751417		2203	4300	6503	SO:0001589	frameshift_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21751417delA	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2247delT	18.37:g.21751417delA	ENSP00000320291:p.Phe749fs					OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.F236fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.F367fs	p.F749fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			23	2453	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		749					B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Del	DEL	ENST00000319481.3	37	c.2247delT	CCDS11884.1																																																																																				0.308	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		37	106						37	106	---	---	---	---
DSC2	1824	broad.mit.edu	37	18	28673608	28673609	+	Splice_Site	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:28673608_28673609insA	ENST00000280904.6	-	2	513		c.e2-2		DSC2_ENST00000251081.6_Splice_Site	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2						bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TATTAAGATCTAAAAAATGAAA	0.262																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.e2-2		desmocollin 2																																				SO:0001630	splice_region_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28673608_28673609insA	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.70-2->T	18.37:g.28673614_28673614dupA						DSC2_ENST00000251081.6_Splice_Site		NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		2	513	-									Splice_Site	INS	ENST00000280904.6	37		CCDS11892.1																																																																																				0.262	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949	Intron	22	89						22	89	---	---	---	---
TCEB3C	162699	broad.mit.edu	37	18	44555282	44555282	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:44555282delA	ENST00000330682.2	-	1	1167	c.932delT	c.(931-933)ttcfs	p.F311fs	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	311	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GCGTCCAGGGAAAGCAGCTTC	0.642																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(931-933)tcfs		transcription elongation factor B polypeptide 3C (elongin A3)							286.0	292.0	290.0					18																	44555282		1914	3730	5644	SO:0001589	frameshift_variant	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44555282delA	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.932delT	18.37:g.44555282delA	ENSP00000328232:p.Phe311fs					KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	p.F311fs	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN			1	1167	-			311			Activation domain (By similarity).			Frame_Shift_Del	DEL	ENST00000330682.2	37	c.932delT	CCDS11931.1																																																																																				0.642	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		43	1006						43	1006	---	---	---	---
ZBTB7C	201501	broad.mit.edu	37	18	45567085	45567085	+	Frame_Shift_Del	DEL	C	C	-	rs115080210		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:45567085delC	ENST00000588982.1	-	3	895	c.394delG	c.(394-396)gacfs	p.D132fs	ZBTB7C_ENST00000590800.1_Frame_Shift_Del_p.D132fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Del_p.D132fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Del_p.D132fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Del_p.D132fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	132	Asp-rich.|Glu-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						tcccccccgtcccccCCAGGC	0.582																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(394-396)acfs		zinc finger and BTB domain containing 7C							135.0	94.0	108.0					18																	45567085		2203	4300	6503	SO:0001589	frameshift_variant	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45567085delC	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.394delG	18.37:g.45567085delC	ENSP00000468782:p.Asp132fs					ZBTB7C_ENST00000535628.2_Frame_Shift_Del_p.D132fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Del_p.D132fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Del_p.D132fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Del_p.D132fs	p.D132fs			A1YPR0	ZBT7C_HUMAN			3	895	-			132			Asp-rich.|Glu-rich.		O73453	Frame_Shift_Del	DEL	ENST00000588982.1	37	c.394delG	CCDS32830.1																																																																																				0.582	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		12	37						12	37	---	---	---	---
LOC100287225	100287225	broad.mit.edu	37	18	48960171	48960171	+	lincRNA	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:48960171delG	ENST00000578152.1	+	0	216					NR_040075.1																						CTTGTTTCATGGGGGGCACTC	0.403																																						ENST00000578152.1																			0																																																			100287225							g.chr18:48960171delG																													18.37:g.48960171delG								NR_040075.1						0	216	+									RNA	DEL	ENST00000578152.1	37																																																																																						0.403	RP11-267C16.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000447678.1			3	3						3	3	---	---	---	---
RP11-795H16.3	0	broad.mit.edu	37	18	57817640	57817640	+	lincRNA	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:57817640delA	ENST00000588794.1	+	0	346																											TGCTATTTGTaaaaaaaataa	0.294																																						ENST00000588794.1																			0																																																			0							g.chr18:57817640delA																													18.37:g.57817640delA														0	346	+									RNA	DEL	ENST00000588794.1	37																																																																																						0.294	RP11-795H16.3-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000449080.1			7	20						7	20	---	---	---	---
TMX3	54495	broad.mit.edu	37	18	66367677	66367677	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:66367677delT	ENST00000299608.2	-	6	673	c.357delA	c.(355-357)aaafs	p.K119fs	TMX3_ENST00000562706.1_Frame_Shift_Del_p.K119fs|TMX3_ENST00000443099.2_Intron	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	119	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TAATATCATCTTTTGTTCGTG	0.249																																						ENST00000299608.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(355-357)aafs		thioredoxin-related transmembrane protein 3							90.0	96.0	94.0					18																	66367677		2203	4287	6490	SO:0001589	frameshift_variant	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66367677delT	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.357delA	18.37:g.66367677delT	ENSP00000299608:p.Lys119fs					TMX3_ENST00000443099.2_Intron|TMX3_ENST00000562706.1_Frame_Shift_Del_p.K119fs	p.K119fs	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN			6	673	-			119			Thioredoxin.		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Frame_Shift_Del	DEL	ENST00000299608.2	37	c.357delA	CCDS32840.1																																																																																				0.249	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		49	132						49	132	---	---	---	---
SOCS6	9306	broad.mit.edu	37	18	67992095	67992096	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr18:67992095_67992096insA	ENST00000397942.3	+	2	507_508	c.191_192insA	c.(190-195)ggaaaafs	p.GK64fs	SOCS6_ENST00000582322.1_Frame_Shift_Ins_p.GK64fs	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	64					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GAAAAAGGCGGAAAAAACAGAT	0.47																																					Melanoma(84;1024 1361 24382 36583 42651)	ENST00000397942.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(190-192)gaafs		suppressor of cytokine signaling 6																																				SO:0001589	frameshift_variant	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992095_67992096insA	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.197dupA	18.37:g.67992101_67992101dupA	ENSP00000381034:p.Gly64fs					SOCS6_ENST00000582322.1_Frame_Shift_Ins_p.E64fs	p.E64fs	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN			2	507_508	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	64					Q8WUM3	Frame_Shift_Ins	INS	ENST00000397942.3	37	c.191_192insA	CCDS11998.1																																																																																				0.470	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			22	157						22	157	---	---	---	---
PRSS57	400668	broad.mit.edu	37	19	694923	694923	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:694923delG	ENST00000329267.7	-	2	156	c.127delC	c.(127-129)cacfs	p.H43fs		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	43	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(5)	6						GGCCTGGAGTGGGGGGTCACC	0.701																																						ENST00000329267.7																			0				central_nervous_system(1)|lung(5)	6						c.(127-129)acfs		protease, serine, 57				5,4227		0,5,2111	13.0	14.0	14.0			4.7	1.0	19		14	8,8210		0,8,4101	no	frameshift	PRSS57	NM_214710.3		0,13,6212	A1A1,A1R,RR		0.0973,0.1181,0.1044			694923	13,12437	2193	4292	6485	SO:0001589	frameshift_variant	400668				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:694923delG	AY358594	CCDS12041.1	19p13.3	2012-03-26	2011-03-07	2011-03-07		ENSG00000185198		"""Serine peptidases / Serine peptidases"""	31397	protein-coding gene	gene with protein product			"""protease, serine-like 1"""	PRSSL1		12975309	Standard	NM_214710		Approved	UNQ782	uc002lpl.1	Q6UWY2		ENST00000329267.7:c.127delC	19.37:g.694923delG	ENSP00000327386:p.His43fs						p.H43fs	NM_214710.3	NP_999875.1	Q6UWY2	PRS57_HUMAN			2	156	-			43			Peptidase S1.		B2RNW8	Frame_Shift_Del	DEL	ENST00000329267.7	37	c.127delC	CCDS12041.1																																																																																				0.701	PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452480.2	NM_214710		5	11						5	11	---	---	---	---
UHRF1	29128	broad.mit.edu	37	19	4944201	4944202	+	RNA	DEL	GA	GA	-	rs542736227		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:4944201_4944202delGA	ENST00000592666.1	+	0	1707_1708							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GAGAGCGGCTGAGAGAGAGCAA	0.653																																						ENST00000592666.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1																																						29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4944201_4944202delGA	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4944207_4944208delGA										Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	1707_1708	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	DEL	ENST00000592666.1	37																																																																																						0.653	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		8	28						8	28	---	---	---	---
VAV1	7409	broad.mit.edu	37	19	6850745	6850746	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:6850745_6850746insG	ENST00000602142.1	+	24	2276_2277	c.2194_2195insG	c.(2194-2196)aaafs	p.K732fs	VAV1_ENST00000304076.2_Frame_Shift_Ins_p.K710fs|VAV1_ENST00000599806.1_Frame_Shift_Ins_p.K677fs|VAV1_ENST00000596764.1_Frame_Shift_Ins_p.K700fs|VAV1_ENST00000539284.1_Frame_Shift_Ins_p.K635fs	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	732	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GATCACAGAGAAAAAGGCTTTC	0.559																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(2128-2130)aaafs		vav 1 guanine nucleotide exchange factor																																				SO:0001589	frameshift_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6850745_6850746insG		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		Exception_encountered	19.37:g.6850745_6850746insG	ENSP00000472929:p.Lys732fs					VAV1_ENST00000599806.1_Frame_Shift_Ins_p.K677fs|VAV1_ENST00000602142.1_Frame_Shift_Ins_p.K732fs|VAV1_ENST00000596764.1_Frame_Shift_Ins_p.K700fs|VAV1_ENST00000539284.1_Frame_Shift_Ins_p.K635fs	p.K710fs	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			23	2222_2223	+			732			SH2.		B4DVK9|M0QXX6|Q15860	Frame_Shift_Ins	INS	ENST00000602142.1	37	c.2128_2129insG	CCDS12174.1																																																																																				0.559	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			21	71						21	71	---	---	---	---
ZNF557	79230	broad.mit.edu	37	19	7083661	7083662	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:7083661_7083662insA	ENST00000439035.2	+	8	1418_1419	c.1178_1179insA	c.(1177-1182)ggaaaafs	p.GK393fs	ZNF557_ENST00000414706.1_Frame_Shift_Ins_p.GK400fs|ZNF557_ENST00000252840.6_Frame_Shift_Ins_p.GK400fs			Q8N988	ZN557_HUMAN	zinc finger protein 557	393					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(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		ACTCACACTGGAAAAAAACCCT	0.366																																						ENST00000414706.1																			0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(1198-1200)gaafs		zinc finger protein 557																																				SO:0001589	frameshift_variant	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7083661_7083662insA	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.1185dupA	19.37:g.7083668_7083668dupA	ENSP00000398965:p.Gly393fs					ZNF557_ENST00000439035.2_Frame_Shift_Ins_p.E393fs|ZNF557_ENST00000252840.6_Frame_Shift_Ins_p.E400fs	p.E400fs	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN		Lung(535;0.179)	8	1672_1673	+			393					Q6PEJ3|Q9BTZ1	Frame_Shift_Ins	INS	ENST00000439035.2	37	c.1199_1200insA	CCDS45945.1																																																																																				0.366	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		22	56						22	56	---	---	---	---
CAMSAP3	57662	broad.mit.edu	37	19	7676687	7676687	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:7676687delC	ENST00000160298.4	+	11	1409	c.1308delC	c.(1306-1308)ggcfs	p.G436fs	CAMSAP3_ENST00000446248.2_Frame_Shift_Del_p.G463fs	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	436					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						ACAGCCTGGGCCCCCCGCGTC	0.682																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(1387-1389)ggfs		calmodulin regulated spectrin-associated protein family, member 3							11.0	15.0	14.0					19																	7676687		1944	4128	6072	SO:0001589	frameshift_variant	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7676687delC	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.1308delC	19.37:g.7676687delC	ENSP00000160298:p.Gly436fs					CAMSAP3_ENST00000160298.4_Frame_Shift_Del_p.G436fs	p.G463fs	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			13	1490	+			436			Pro-rich.		Q8NDF1	Frame_Shift_Del	DEL	ENST00000160298.4	37	c.1389delC	CCDS42489.1																																																																																				0.682	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		21	21						21	21	---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10088132	10088132	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10088132delG	ENST00000264828.3	-	43	3228	c.3143delC	c.(3142-3144)cctfs	p.P1048fs		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1048	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGTGGGGCCAGGGGGGCCACG	0.662																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(3142-3144)ctfs		collagen, type V, alpha 3							42.0	52.0	48.0					19																	10088132		2197	4295	6492	SO:0001589	frameshift_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10088132delG	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3143delC	19.37:g.10088132delG	ENSP00000264828:p.Pro1048fs						p.P1048fs	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		43	3228	-			1048			Triple-helical region.		Q9NZQ6	Frame_Shift_Del	DEL	ENST00000264828.3	37	c.3143delC	CCDS12222.1																																																																																				0.662	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		44	151						44	151	---	---	---	---
CTD-2369P2.5	0	broad.mit.edu	37	19	10377498	10377498	+	RNA	DEL	T	T	-	rs554336674		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:10377498delT	ENST00000592893.1	-	0	141																											TCCATAGCCCTTTTTTTTTCC	0.428																																						ENST00000592893.1																			0																																																			0							g.chr19:10377498delT																													19.37:g.10377498delT														0	141	-									RNA	DEL	ENST00000592893.1	37																																																																																						0.428	CTD-2369P2.5-001	KNOWN	basic	antisense	antisense	OTTHUMT00000451205.1			8	18						8	18	---	---	---	---
IER2	9592	broad.mit.edu	37	19	13264483	13264484	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:13264483_13264484insC	ENST00000588173.1	+	1	1695_1696	c.483_484insC	c.(484-486)cccfs	p.P162fs	IER2_ENST00000587885.1_Frame_Shift_Ins_p.P162fs|IER2_ENST00000292433.3_Frame_Shift_Ins_p.P162fs|CTC-250I14.6_ENST00000592882.1_RNA|CTC-250I14.6_ENST00000586483.1_RNA			Q9BTL4	IER2_HUMAN	immediate early response 2	162						cytoplasm (GO:0005737)				kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			ATCGCCTGCAGCCCCCTCCGGC	0.693											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000588173.1																			0				kidney(1)|lung(1)|ovary(1)|skin(1)	4						c.(481-486)caccccfs		immediate early response 2																																				SO:0001589	frameshift_variant	9592							g.chr19:13264483_13264484insC	M62831	CCDS12295.1	19p13.13	2008-02-05				ENSG00000160888			28871	protein-coding gene	gene with protein product						2061303	Standard	NM_004907		Approved	ETR101	uc002mwr.3	Q9BTL4		ENST00000588173.1:c.488dupC	19.37:g.13264488_13264488dupC	ENSP00000465617:p.Pro162fs		OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	686	CTC-250I14.6_ENST00000586483.1_RNA|IER2_ENST00000292433.3_Frame_Shift_Ins_p.HP161fs|IER2_ENST00000587885.1_Frame_Shift_Ins_p.HP161fs|CTC-250I14.6_ENST00000592882.1_RNA	p.HP161fs			Q9BTL4	IER2_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)		1	1695_1696	+			161					Q03827|Q2TAZ2	Frame_Shift_Ins	INS	ENST00000588173.1	37	c.483_484insC	CCDS12295.1																																																																																				0.693	IER2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453033.1	NM_004907		17	58						17	58	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13373574	13373574	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:13373574delT	ENST00000360228.5	-	25	4062	c.4063delA	c.(4063-4065)accfs	p.T1355fs	CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.T1356fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1356					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CGCTTGATGGTTTTAAGAGGT	0.517											OREG0025294	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(4063-4065)ccfs		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						91.0	89.0	90.0					19																	13373574		1903	4118	6021	SO:0001589	frameshift_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13373574delT	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4063delA	19.37:g.13373574delT	ENSP00000353362:p.Thr1355fs		OREG0025294	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	687	CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.T1356fs	p.T1355fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		25	4062	-			1356					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Frame_Shift_Del	DEL	ENST00000360228.5	37	c.4063delA	CCDS45998.1																																																																																				0.517	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		7	26						7	26	---	---	---	---
BRD4	23476	broad.mit.edu	37	19	15376248	15376248	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:15376248delG	ENST00000263377.2	-	5	987	c.766delC	c.(766-768)cagfs	p.Q256fs	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000371835.4_Frame_Shift_Del_p.Q256fs|BRD4_ENST00000360016.5_Frame_Shift_Del_p.Q256fs	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	256					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGTTGTGGCTGGGGGGGCACT	0.687			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(766-768)agfs		bromodomain containing 4							10.0	14.0	13.0					19																	15376248		2065	4092	6157	SO:0001589	frameshift_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15376248delG	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.766delC	19.37:g.15376248delG	ENSP00000263377:p.Gln256fs					BRD4_ENST00000371835.4_Frame_Shift_Del_p.Q256fs|BRD4_ENST00000360016.5_Frame_Shift_Del_p.Q256fs	p.Q256fs	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		5	987	-			256					O60433|Q4G0X8|Q86YS8|Q96PD3	Frame_Shift_Del	DEL	ENST00000263377.2	37	c.766delC	CCDS12328.1																																																																																				0.687	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		10	30						10	30	---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17766809	17766809	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:17766809delG	ENST00000519716.2	-	10	1165	c.1166delC	c.(1165-1167)ccafs	p.P389fs	UNC13A_ENST00000550896.1_Frame_Shift_Del_p.P389fs|UNC13A_ENST00000551649.1_Frame_Shift_Del_p.P389fs|UNC13A_ENST00000252773.7_Frame_Shift_Del_p.P389fs|UNC13A_ENST00000552293.1_Frame_Shift_Del_p.P389fs|UNC13A_ENST00000428389.2_Frame_Shift_Del_p.P477fs	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	389					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGGTGCCACTGGGGCCTTGTC	0.662																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(1429-1431)cafs		unc-13 homolog A (C. elegans)							26.0	30.0	29.0					19																	17766809		2047	4184	6231	SO:0001589	frameshift_variant	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17766809delG	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1166delC	19.37:g.17766809delG	ENSP00000429562:p.Pro389fs					UNC13A_ENST00000552293.1_Frame_Shift_Del_p.P389fs|UNC13A_ENST00000252773.7_Frame_Shift_Del_p.P389fs|UNC13A_ENST00000551649.1_Frame_Shift_Del_p.P389fs|UNC13A_ENST00000519716.2_Frame_Shift_Del_p.P389fs|UNC13A_ENST00000550896.1_Frame_Shift_Del_p.P389fs	p.P477fs			Q9UPW8	UN13A_HUMAN			11	1429	-			389					E5RHY9	Frame_Shift_Del	DEL	ENST00000519716.2	37	c.1430delC	CCDS46013.2																																																																																				0.662	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		9	18						9	18	---	---	---	---
ZNF254	9534	broad.mit.edu	37	19	24310632	24310633	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:24310632_24310633insT	ENST00000357002.4	+	4	1945_1946	c.1830_1831insT	c.(1831-1833)tttfs	p.F611fs	ZNF254_ENST00000342944.6_Frame_Shift_Ins_p.F526fs	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	611					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GTGGCAAAGCATTTTTCTGGTC	0.376																																						ENST00000357002.4																			0											c.(1828-1833)gcttttfs		zinc finger protein 254																																				SO:0001589	frameshift_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310632_24310633insT	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1835dupT	19.37:g.24310637_24310637dupT	ENSP00000349494:p.Phe611fs					ZNF254_ENST00000342944.6_Frame_Shift_Ins_p.AF525fs	p.AF610fs	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1945_1946	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	610					A4QPC0|Q86XL7	Frame_Shift_Ins	INS	ENST00000357002.4	37	c.1830_1831insT	CCDS32983.1																																																																																				0.376	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		18	82						18	82	---	---	---	---
ZNF507	22847	broad.mit.edu	37	19	32843909	32843909	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:32843909delA	ENST00000311921.4	+	2	365	c.173delA	c.(172-174)gaafs	p.E58fs	ZNF507_ENST00000355898.5_Frame_Shift_Del_p.E58fs|ZNF507_ENST00000544431.1_Frame_Shift_Del_p.E58fs	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	58					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					GTGGAAAATGAAAAGTCACAA	0.368																																						ENST00000311921.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(172-174)gafs		zinc finger protein 507							70.0	69.0	69.0					19																	32843909		2203	4300	6503	SO:0001589	frameshift_variant	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32843909delA	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.173delA	19.37:g.32843909delA	ENSP00000312277:p.Glu58fs					ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Frame_Shift_Del_p.E58fs|ZNF507_ENST00000544431.1_Frame_Shift_Del_p.E58fs	p.E58fs	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			2	365	+	Esophageal squamous(110;0.162)		58					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Frame_Shift_Del	DEL	ENST00000311921.4	37	c.173delA	CCDS32985.1																																																																																				0.368	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		15	52						15	52	---	---	---	---
ZNF792	126375	broad.mit.edu	37	19	35450469	35450470	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:35450469_35450470insA	ENST00000404801.1	-	4	675_676	c.289_290insT	c.(289-291)tgcfs	p.C97fs	ZNF792_ENST00000605484.1_Frame_Shift_Ins_p.C30fs	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	97					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGTTCCATGGCAAAAATCTGAA	0.48																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(289-291)ccafs		zinc finger protein 792																																				SO:0001589	frameshift_variant	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35450469_35450470insA	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.290dupT	19.37:g.35450474_35450474dupA	ENSP00000385099:p.Cys97fs					ZNF792_ENST00000605484.1_Frame_Shift_Ins_p.P30fs	p.P97fs	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	675_676	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		97					B4E333|Q495L1|Q495L3|Q8N932	Frame_Shift_Ins	INS	ENST00000404801.1	37	c.289_290insT	CCDS12440.2																																																																																				0.480	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		17	51						17	51	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36222938	36222938	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:36222938delC	ENST00000222270.7	+	27	5567	c.5567delC	c.(5566-5568)gccfs	p.A1856fs	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Frame_Shift_Del_p.A1856fs	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1856					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCTCCTCCAGCCCCCCGTTCT	0.642																																						ENST00000222270.7																			0											c.(5566-5568)gcfs									21.0	24.0	23.0					19																	36222938		1906	4115	6021	SO:0001589	frameshift_variant	9757							g.chr19:36222938delC	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.5567delC	19.37:g.36222938delC	ENSP00000222270:p.Ala1856fs					WBP7_ENST00000420124.1_Frame_Shift_Del_p.A1856fs|KMT2B_ENST00000607650.1_RNA	p.A1856fs	NM_014727.1	NP_055542.1					27	5567	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	ENST00000222270.7	37	c.5567delC	CCDS46055.1																																																																																				0.642	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		10	20						10	20	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39025414	39025415	+	Frame_Shift_Ins	INS	-	-	G	rs193922839		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:39025414_39025415insG	ENST00000359596.3	+	79	11314_11315	c.11314_11315insG	c.(11314-11316)cggfs	p.R3772fs	RYR1_ENST00000355481.4_Frame_Shift_Ins_p.R3767fs|RYR1_ENST00000360985.3_Frame_Shift_Ins_p.R3772fs|AC067969.2_ENST00000595853.1_RNA			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3772			R -> Q (in CCD; autosomal recessive form). {ECO:0000269|PubMed:18253926}.|R -> W (in MHS1). {ECO:0000269|PubMed:19191329}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCTGCACACCCGGGGGGCGGCC	0.589																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	GRCh37	CM073325	RYR1	M		c.(11299-11301)gggfs		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)																																			SO:0001589	frameshift_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39025414_39025415insG	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11320dupG	19.37:g.39025420_39025420dupG	ENSP00000352608:p.Arg3772fs					RYR1_ENST00000359596.3_Frame_Shift_Ins_p.G3772fs|RYR1_ENST00000360985.3_Frame_Shift_Ins_p.G3772fs	p.G3767fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		78	11430_11431	+	all_cancers(60;7.91e-06)		3772					Q16314|Q16368|Q9NPK1|Q9P1U4	Frame_Shift_Ins	INS	ENST00000359596.3	37	c.11299_11300insG	CCDS33011.1																																																																																				0.589	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			21	44						21	44	---	---	---	---
LGALS17A	400696	broad.mit.edu	37	19	40172017	40172017	+	RNA	DEL	G	G	-	rs28457128	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:40172017delG	ENST00000412609.1	+	0	61																											AATCTGTTACGGGGGGGAGGC	0.587																																					Colon(98;189 2488 3678)	ENST00000412609.1																			0																				79.0	70.0	72.0					19																	40172017		692	1591	2283			400696							g.chr19:40172017delG																													19.37:g.40172017delG														0	61	+									RNA	DEL	ENST00000412609.1	37																																																																																						0.587	LGALS17A-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000280514.1			8	10						8	10	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42794869	42794869	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:42794869delC	ENST00000575354.2	+	10	1989	c.1949delC	c.(1948-1950)gccfs	p.A650fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.A1559fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.A650fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	650	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GTGCCCTCCGCCCCCGCCCCA	0.682			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(4675-4677)gcfs		capicua transcriptional repressor							13.0	15.0	15.0					19																	42794869		2182	4281	6463	SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42794869delC	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1949delC	19.37:g.42794869delC	ENSP00000458663:p.Ala650fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.A650fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.A650fs	p.A1559fs			Q96RK0	CIC_HUMAN			11	4744	+		Prostate(69;0.00682)	650			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.4676delC	CCDS12601.1																																																																																				0.682	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			13	37						13	37	---	---	---	---
GLTSCR1	29998	broad.mit.edu	37	19	48197891	48197891	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:48197891delC	ENST00000396720.3	+	8	2997	c.2803delC	c.(2803-2805)cccfs	p.P940fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	940	Poly-Pro.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCCGGCAGCACCCCCCCCACC	0.672																																						ENST00000396720.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(2803-2805)ccfs		glioma tumor suppressor candidate region gene 1				33,53,3378		2,0,29,2,49,1650	14.0	16.0	16.0			-4.0	0.0	19		16	51,107,7600		1,0,49,8,91,3730	no	codingComplex	GLTSCR1	NM_015711.3		3,0,78,10,140,5380	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0366,2.4827,2.1743			48197891	84,160,10978	1829	4072	5901	SO:0001589	frameshift_variant	29998						protein binding	g.chr19:48197891delC	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.2803delC	19.37:g.48197891delC	ENSP00000379946:p.Pro940fs					CTD-2571L23.8_ENST00000599924.1_lincRNA	p.P940fs	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	8	2997	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	940			Poly-Pro.		A8MW01	Frame_Shift_Del	DEL	ENST00000396720.3	37	c.2803delC	CCDS46134.1																																																																																				0.672	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		9	29						9	29	---	---	---	---
BCL2L12	83596	broad.mit.edu	37	19	50173670	50173670	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:50173670delG	ENST00000246785.3	+	6	1137	c.879delG	c.(877-879)ctgfs	p.L293fs	BCL2L12_ENST00000441864.2_Frame_Shift_Del_p.L292fs|BCL2L12_ENST00000246784.3_3'UTR	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	293					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TGGCCGGGCTGGGGGGCACCC	0.751																																						ENST00000246785.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8						c.(877-879)ctfs		BCL2-like 12 (proline rich)			,	46,3752		18,10,1871	4.0	4.0	4.0		,	4.0	0.1	19		4	106,7320		48,10,3655	no	frameshift,frameshift	BCL2L12	NM_138639.1,NM_001040668.1	,	66,20,5526	A1A1,A1R,RR		1.4274,1.2112,1.3542	,	,	50173670	152,11072	2030	3968	5998	SO:0001589	frameshift_variant	83596				apoptosis			g.chr19:50173670delG	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.879delG	19.37:g.50173670delG	ENSP00000246785:p.Leu293fs					BCL2L12_ENST00000441864.2_Frame_Shift_Del_p.L292fs|BCL2L12_ENST00000246784.3_3'UTR	p.L293fs	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)	6	1137	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	293					Q3SY11|Q3SY13|Q96I96|Q9HB08	Frame_Shift_Del	DEL	ENST00000246785.3	37	c.879delG	CCDS12776.1																																																																																				0.751	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465770.1	NM_052842		4	8						4	8	---	---	---	---
SIGLEC16	400709	broad.mit.edu	37	19	50475431	50475431	+	RNA	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:50475431delC	ENST00000602139.1	+	0	1304							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						TCCCACAGAGCCCCCCCAGCT	0.682																																						ENST00000602139.1																			0				endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50475431delC	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50475431delC														0	1304	+									RNA	DEL	ENST00000602139.1	37																																																																																						0.682	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		9	33						9	33	---	---	---	---
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Intron	DEL	T	T	-	rs77187934		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:52877717delT	ENST00000422689.2	+	3	283				ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000597976.1_Frame_Shift_Del_p.I102fs|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000424032.2_Intron	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473																																						ENST00000597976.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(304-306)atfs		zinc finger protein 880				279,569,2978		19,4,237,24,517,1112	16.0	16.0	16.0			1.2	0.0	19		17	673,1156,5999		28,27,590,42,1045,2182	no	intron	ZNF880	NM_001145434.1		47,31,827,66,1562,3294	A1A1,A1A2,A1R,A2A2,A2R,RR		23.3648,22.1641,22.9707			52877717	952,1725,8977	692	1591	2283	SO:0001627	intron_variant	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52877717delT	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.268+37T>-	19.37:g.52877717delT						ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron	p.I102fs			Q6PDB4	ZN880_HUMAN			3	325	+			0					B4DNA6	Frame_Shift_Del	DEL	ENST00000422689.2	37	c.305delT	CCDS46164.1																																																																																				0.473	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		9	12						9	12	---	---	---	---
ZNF264	9422	broad.mit.edu	37	19	57705383	57705384	+	Intron	INS	-	-	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:57705383_57705384insC	ENST00000263095.6	+	2	574				ZNF264_ENST00000599653.1_Frame_Shift_Ins_p.P59fs|ZNF264_ENST00000536056.1_Intron|ZNF264_ENST00000600531.1_Intron	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264						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)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		AGGCCTTCCTTCCCCCTCCACC	0.579																																						ENST00000599653.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(172-177)ctccccfs		zinc finger protein 264																																				SO:0001627	intron_variant	9422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57705383_57705384insC	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.160+14->C	19.37:g.57705388_57705388dupC						ZNF264_ENST00000536056.1_Intron|ZNF264_ENST00000600531.1_Intron|ZNF264_ENST00000263095.6_Intron	p.LP58fs			O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	2	551_552	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	0			KRAB.		A8K8Y9|Q9P1V0	Frame_Shift_Ins	INS	ENST00000263095.6	37	c.174_175insC	CCDS33127.1																																																																																				0.579	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			22	105						22	105	---	---	---	---
ZNF749	388567	broad.mit.edu	37	19	57954687	57954687	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:57954687delG	ENST00000334181.4	+	3	421	c.171delG	c.(169-171)gagfs	p.E57fs	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGGATGAGGAGGTACCTTCCA	0.512																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(169-171)gafs		zinc finger protein 749							78.0	76.0	76.0					19																	57954687		2203	4300	6503	SO:0001589	frameshift_variant	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57954687delG	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.171delG	19.37:g.57954687delG	ENSP00000333980:p.Glu57fs					AC004076.9_ENST00000596831.1_Intron	p.E57fs	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	421	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	57			KRAB.			Frame_Shift_Del	DEL	ENST00000334181.4	37	c.171delG	CCDS33132.2																																																																																				0.512	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		17	59						17	59	---	---	---	---
ZNF773	374928	broad.mit.edu	37	19	58018055	58018055	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:58018055delA	ENST00000282292.4	+	4	732	c.592delA	c.(592-594)aaafs	p.K198fs	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Frame_Shift_Del_p.K197fs|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	198					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)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TGAATGTGGGAAAGCCTTTGG	0.453																																						ENST00000282292.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(592-594)aafs		zinc finger protein 773							56.0	55.0	55.0					19																	58018055		2203	4298	6501	SO:0001589	frameshift_variant	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58018055delA	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.592delA	19.37:g.58018055delA	ENSP00000282292:p.Lys198fs					ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Frame_Shift_Del_p.K197fs	p.K198fs	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	732	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	198					Q96DL8	Frame_Shift_Del	DEL	ENST00000282292.4	37	c.592delA	CCDS33134.1																																																																																				0.453	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		29	74						29	74	---	---	---	---
ZNF417	147687	broad.mit.edu	37	19	58420945	58420945	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr19:58420945delA	ENST00000312026.5	-	3	865	c.701delT	c.(700-702)ttcfs	p.F234fs	ZNF417_ENST00000595559.1_Frame_Shift_Del_p.F233fs|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Frame_Shift_Del_p.F35fs	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		ATCTCTAGTGAAAAGTTTCTG	0.428																																						ENST00000312026.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18						c.(700-702)tcfs		zinc finger protein 417							17.0	18.0	18.0					19																	58420945		2078	4193	6271	SO:0001589	frameshift_variant	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58420945delA	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.701delT	19.37:g.58420945delA	ENSP00000311319:p.Phe234fs					ZNF417_ENST00000595559.1_Frame_Shift_Del_p.F233fs|ZNF417_ENST00000536263.1_Frame_Shift_Del_p.F35fs|CTD-2583A14.9_ENST00000602124.1_Intron	p.F234fs	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	865	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	234					B4DEU1	Frame_Shift_Del	DEL	ENST00000312026.5	37	c.701delT	CCDS12965.1																																																																																				0.428	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		24	114						24	114	---	---	---	---
SLC23A2	9962	broad.mit.edu	37	20	4864378	4864378	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:4864378delA	ENST00000379333.1	-	9	1126	c.734delT	c.(733-735)ttgfs	p.L245fs	SLC23A2_ENST00000424750.2_Intron|snoU13_ENST00000516249.1_RNA|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.L245fs	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	245					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGTAATGGTCAAGGGACCGAT	0.577																																						ENST00000379333.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(733-735)tgfs		solute carrier family 23 (ascorbic acid transporter), member 2							95.0	88.0	90.0					20																	4864378		2203	4300	6503	SO:0001589	frameshift_variant	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4864378delA	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.734delT	20.37:g.4864378delA	ENSP00000368637:p.Leu245fs					SLC23A2_ENST00000424750.2_Intron|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.L245fs	p.L245fs	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN			9	1126	-			245					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Frame_Shift_Del	DEL	ENST00000379333.1	37	c.734delT	CCDS13085.1																																																																																				0.577	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			20	93						20	93	---	---	---	---
ZNF133	7692	broad.mit.edu	37	20	18287008	18287008	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:18287008delA	ENST00000316358.4	+	3	285	c.188delA	c.(187-189)gaafs	p.E63fs	ZNF133_ENST00000535822.1_5'UTR|ZNF133_ENST00000538547.1_Intron|ZNF133_ENST00000377671.3_Frame_Shift_Del_p.E63fs|ZNF133_ENST00000396026.3_Frame_Shift_Del_p.E66fs|ZNF133_ENST00000401790.1_Frame_Shift_Del_p.E63fs|ZNF133_ENST00000402618.2_5'UTR	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	63	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TGGAGAGAGGAAAAAAAATGT	0.473																																						ENST00000377671.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(187-189)gafs		zinc finger protein 133							56.0	56.0	56.0					20																	18287008		2203	4300	6503	SO:0001589	frameshift_variant	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18287008delA	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.188delA	20.37:g.18287008delA	ENSP00000346090:p.Glu63fs					ZNF133_ENST00000538547.1_Intron|ZNF133_ENST00000535822.1_5'UTR|ZNF133_ENST00000316358.4_Frame_Shift_Del_p.E63fs|ZNF133_ENST00000402618.2_5'UTR|ZNF133_ENST00000396026.3_Frame_Shift_Del_p.E66fs|ZNF133_ENST00000401790.1_Frame_Shift_Del_p.E63fs	p.E63fs	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN			6	747	+			63			KRAB.		A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Frame_Shift_Del	DEL	ENST00000316358.4	37	c.188delA																																																																																					0.473	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		10	21						10	21	---	---	---	---
TP53INP2	58476	broad.mit.edu	37	20	33296605	33296606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:33296605_33296606insC	ENST00000374810.3	+	3	451_452	c.62_63insC	c.(61-66)tgccccfs	p.CP21fs	NCOA6_ENST00000593786.1_Intron|TP53INP2_ENST00000374809.2_Frame_Shift_Ins_p.CP21fs	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	21					autophagic vacuole assembly (GO:0000045)|osteoblast differentiation (GO:0001649)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(1)|urinary_tract(1)	2						GACCCCGACTGCCCCCGCGCCT	0.668																																						ENST00000374810.3																			0				endometrium(1)|urinary_tract(1)	2						c.(61-63)tccfs		tumor protein p53 inducible nuclear protein 2																																				SO:0001589	frameshift_variant	58476					nucleus		g.chr20:33296605_33296606insC	AL109824	CCDS13240.1	20q11.22	2010-01-05	2004-06-18	2004-06-18	ENSG00000078804	ENSG00000078804			16104	protein-coding gene	gene with protein product	"""diabetes and obesity regulated"""		"""chromosome 20 open reading frame 110"""	C20orf110		12477932	Standard	NM_021202		Approved	FLJ21759, FLJ23500, DKFZp434B2411, DKFZp434O0827, dJ1181N3.1, PINH, DOR	uc002xau.1	Q8IXH6	OTTHUMG00000032310	ENST00000374810.3:c.67dupC	20.37:g.33296610_33296610dupC	ENSP00000363943:p.Cys21fs					NCOA6_ENST00000593786.1_Intron|TP53INP2_ENST00000374809.2_Frame_Shift_Ins_p.S21fs	p.S21fs	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN			3	451_452	+			21					A8K8S8|E1P5P6|Q5JX64|Q8IYL5|Q9NU00	Frame_Shift_Ins	INS	ENST00000374810.3	37	c.62_63insC	CCDS13240.1																																																																																				0.668	TP53INP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078807.2	NM_021202		11	32						11	32	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37177336	37177336	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:37177336delT	ENST00000262879.6	+	20	3191	c.2907delT	c.(2905-2907)gatfs	p.D969fs	RALGAPB_ENST00000397038.1_Frame_Shift_Del_p.D747fs|RALGAPB_ENST00000397040.1_Frame_Shift_Del_p.D969fs|RALGAPB_ENST00000397042.3_Frame_Shift_Del_p.D965fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	969					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.F971fs*53(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTCTAGATGATTTTTTCCCCT	0.378																																						ENST00000262879.6																			1	Deletion - Frameshift(1)	p.F971fs*53(1)	large_intestine(1)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(2905-2907)gafs		Ral GTPase activating protein, beta subunit (non-catalytic)							69.0	70.0	69.0					20																	37177336		2203	4300	6503	SO:0001589	frameshift_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37177336delT	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.2907delT	20.37:g.37177336delT	ENSP00000262879:p.Asp969fs					RALGAPB_ENST00000397042.3_Frame_Shift_Del_p.D965fs|RALGAPB_ENST00000397038.1_Frame_Shift_Del_p.D747fs|RALGAPB_ENST00000397040.1_Frame_Shift_Del_p.D969fs	p.D969fs			Q86X10	RLGPB_HUMAN			20	3191	+			969					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Del	DEL	ENST00000262879.6	37	c.2907delT	CCDS13305.1																																																																																				0.378	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		17	40						17	40	---	---	---	---
ZNF334	55713	broad.mit.edu	37	20	45131105	45131106	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:45131105_45131106delTC	ENST00000347606.4	-	5	1054_1055	c.872_873delGA	c.(871-873)agafs	p.R291fs	ZNF334_ENST00000457685.2_Frame_Shift_Del_p.R253fs|ZNF334_ENST00000593880.1_Frame_Shift_Del_p.R314fs	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATTCATAGGGTCTCTCTCCAGT	0.416																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(757-759)afs		zinc finger protein 334																																				SO:0001589	frameshift_variant	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45131105_45131106delTC	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.872_873delGA	20.37:g.45131111_45131112delTC	ENSP00000255129:p.Arg291fs					ZNF334_ENST00000347606.4_Frame_Shift_Del_p.R291fs|ZNF334_ENST00000593880.1_Frame_Shift_Del_p.R314fs	p.R253fs			Q9HCZ1	ZN334_HUMAN			6	2081_2082	-		Myeloproliferative disorder(115;0.0122)	291					Q5T6U2|Q9NVW4	Frame_Shift_Del	DEL	ENST00000347606.4	37	c.758_759delGA	CCDS33480.1																																																																																				0.416	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			34	126						34	126	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61513712	61513713	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr20:61513712_61513713insT	ENST00000266070.4	-	16	3920_3921	c.3595_3596insA	c.(3595-3597)atcfs	p.I1199fs	DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.I1199fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1199					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGGACGTTTGATTTTTTGGCAG	0.431																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3595-3597)caafs		death inducer-obliterator 1																																				SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513712_61513713insT	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3596dupA	20.37:g.61513718_61513718dupT	ENSP00000266070:p.Ile1199fs					DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.Q1199fs	p.Q1199fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	3920_3921	-	Breast(26;5.68e-08)		1199					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Ins	INS	ENST00000266070.4	37	c.3595_3596insA	CCDS33506.1																																																																																				0.431	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		27	92						27	92	---	---	---	---
DOPEY2	9980	broad.mit.edu	37	21	37660372	37660372	+	Frame_Shift_Del	DEL	T	T	-	rs34641375		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:37660372delT	ENST00000399151.3	+	33	6306	c.6221delT	c.(6220-6222)cttfs	p.L2074fs		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2074					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGATGTTTCTTTTTTTCAGA	0.373																																						ENST00000399151.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(6220-6222)ctfs		dopey family member 2							179.0	164.0	169.0					21																	37660372		2203	4300	6503	SO:0001589	frameshift_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37660372delT	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6221delT	21.37:g.37660372delT	ENSP00000382104:p.Leu2074fs						p.L2074fs	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			33	6306	+			2074					D3DSG5|Q6PJQ7|Q9UEZ3	Frame_Shift_Del	DEL	ENST00000399151.3	37	c.6221delT	CCDS13643.1																																																																																				0.373	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		7	137						7	137	---	---	---	---
C21orf33	8209	broad.mit.edu	37	21	45555967	45555967	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:45555967delG	ENST00000291577.6	+	3	313	c.220delG	c.(220-222)gggfs	p.G74fs	C21orf33_ENST00000427803.2_Frame_Shift_Del_p.G74fs|C21orf33_ENST00000348499.5_Frame_Shift_Del_p.G74fs|C21orf33_ENST00000493883.1_3'UTR	NM_004649.6	NP_004640	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	74						mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		GAGCCGTGGAGGGGCTGAAGT	0.552																																						ENST00000291577.6																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(220-222)ggfs		chromosome 21 open reading frame 33							77.0	67.0	70.0					21																	45555967		2203	4300	6503	SO:0001589	frameshift_variant	8209					mitochondrion		g.chr21:45555967delG	Y07572	CCDS33580.1, CCDS33581.1	21q22.3	2008-07-29			ENSG00000160221	ENSG00000160221			1273	protein-coding gene	gene with protein product		601659				9150728, 8975701	Standard	NM_004649		Approved	KNP-Ia, GT335, ES1, HES1, D21S2048E, KNPI, KNPH, KNP-I	uc002zec.4	P30042	OTTHUMG00000086916	ENST00000291577.6:c.220delG	21.37:g.45555967delG	ENSP00000291577:p.Gly74fs					C21orf33_ENST00000493883.1_3'UTR|C21orf33_ENST00000427803.2_Frame_Shift_Del_p.G74fs|C21orf33_ENST00000348499.5_Frame_Shift_Del_p.G74fs	p.G74fs	NM_004649.6	NP_004640.3	P30042	ES1_HUMAN		STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)	3	313	+			74					A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Frame_Shift_Del	DEL	ENST00000291577.6	37	c.220delG	CCDS33580.1																																																																																				0.552	C21orf33-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195824.1	NM_004649		9	30						9	30	---	---	---	---
KRTAP10-5	386680	broad.mit.edu	37	21	45999955	45999955	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr21:45999955delG	ENST00000400372.1	-	1	526	c.501delC	c.(499-501)cccfs	p.P167fs	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	167	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						ACTGCTGGCAGGGGGAGGAGG	0.597																																						ENST00000400372.1																			0				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(499-501)ccfs		keratin associated protein 10-5							159.0	164.0	162.0					21																	45999955		2203	4300	6503	SO:0001589	frameshift_variant	386680					keratin filament		g.chr21:45999955delG	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.501delC	21.37:g.45999955delG	ENSP00000383223:p.Pro167fs					TSPEAR_ENST00000323084.4_Intron	p.P167fs	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	526	-			167			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Frame_Shift_Del	DEL	ENST00000400372.1	37	c.501delC	CCDS42958.1																																																																																				0.597	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			103	359						103	359	---	---	---	---
CCT8L2	150160	broad.mit.edu	37	22	17071787	17071787	+	Frame_Shift_Del	DEL	T	T	-	rs531644766		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:17071787delT	ENST00000359963.3	-	1	1913	c.1654delA	c.(1654-1656)atcfs	p.I552fs		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	552					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AATCCAAGGATTTTTTTTGTT	0.408																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(1654-1656)tcfs		chaperonin containing TCP1, subunit 8 (theta)-like 2																																				SO:0001589	frameshift_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17071787delT	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1654delA	22.37:g.17071787delT	ENSP00000353048:p.Ile552fs						p.I552fs	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1913	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	552					A4QPH3|Q9UJS3	Frame_Shift_Del	DEL	ENST00000359963.3	37	c.1654delA	CCDS13738.1																																																																																				0.408	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			24	95						24	95	---	---	---	---
P2RX6P	440799	broad.mit.edu	37	22	21399221	21399221	+	5'Flank	DEL	C	C	-	rs548950945	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:21399221delC	ENST00000342608.4	+	0	0				P2RX6P_ENST00000439119.1_RNA|AC002472.13_ENST00000543388.1_5'Flank|AC002472.11_ENST00000450652.1_RNA																lung(2)	2						CTGCAGGGCGCCCCCCCACCA	0.597																																						ENST00000439119.1																			0																																																	SO:0001631	upstream_gene_variant	440799							g.chr22:21399221delC																													22.37:g.21399221delC	Exception_encountered							NR_002829.1						0	51	-									RNA	DEL	ENST00000342608.4	37																																																																																						0.597	AC002472.13-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				62	165						62	165	---	---	---	---
GGT5	2687	broad.mit.edu	37	22	24622210	24622210	+	Frame_Shift_Del	DEL	C	C	-	rs144862235		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:24622210delC	ENST00000327365.4	-	8	1479	c.1063delG	c.(1063-1065)gagfs	p.E355fs	GGT5_ENST00000418439.2_Frame_Shift_Del_p.E278fs|GGT5_ENST00000398292.3_Frame_Shift_Del_p.E355fs|GGT5_ENST00000263112.7_Frame_Shift_Del_p.E323fs	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	355					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|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(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GCCAGGGTCTCCCCCAGCAGG	0.677																																						ENST00000327365.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(1063-1065)agfs		gamma-glutamyltransferase 5							27.0	33.0	31.0					22																	24622210		2203	4299	6502	SO:0001589	frameshift_variant	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24622210delC	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1063delG	22.37:g.24622210delC	ENSP00000330080:p.Glu355fs					GGT5_ENST00000263112.7_Frame_Shift_Del_p.E323fs|GGT5_ENST00000398292.3_Frame_Shift_Del_p.E355fs|GGT5_ENST00000418439.2_Frame_Shift_Del_p.E278fs	p.E355fs	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			8	1479	-			355					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Frame_Shift_Del	DEL	ENST00000327365.4	37	c.1063delG	CCDS13825.1																																																																																				0.677	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		33	55						33	55	---	---	---	---
RASL10A	10633	broad.mit.edu	37	22	29707852	29707852	+	IGR	DEL	C	C	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:29707852delC	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000471961.1_Frame_Shift_Del_p.P472fs|GAS2L1_ENST00000407647.2_Frame_Shift_Del_p.P472fs|GAS2L1_ENST00000403764.1_Frame_Shift_Del_p.P472fs|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000407854.1_Frame_Shift_Del_p.P472fs|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000341313.6_3'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						GGCAGGAGCACCCCCCAGACT	0.711																																						ENST00000471961.1																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(1411-1413)ccfs		growth arrest-specific 2 like 1							6.0	8.0	8.0					22																	29707852		1914	3936	5850	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29707852delC	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29707852delC						GAS2L1_ENST00000407854.1_Frame_Shift_Del_p.P472fs|GAS2L1_ENST00000407647.2_Frame_Shift_Del_p.P472fs|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000403764.1_Frame_Shift_Del_p.P472fs|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000341313.6_3'UTR	p.P472fs			Q99501	GA2L1_HUMAN			5	2459	+			475					Q49AU5|Q6PI03	Frame_Shift_Del	DEL	ENST00000216101.6	37	c.1411delC	CCDS13854.1																																																																																				0.711	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			8	24						8	24	---	---	---	---
SUN2	25777	broad.mit.edu	37	22	39135892	39135893	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:39135892_39135893insC	ENST00000405510.1	-	14	1770_1771	c.1412_1413insG	c.(1411-1413)ggcfs	p.G471fs	SUN2_ENST00000406622.1_Frame_Shift_Ins_p.G471fs|RP3-508I15.19_ENST00000418803.1_RNA|SUN2_ENST00000405018.1_Frame_Shift_Ins_p.G492fs|SUN2_ENST00000216064.4_Frame_Shift_Ins_p.G471fs|RP3-508I15.21_ENST00000609212.1_RNA|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Frame_Shift_Ins_p.G460fs|RP3-508I15.18_ENST00000420118.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	471	Poly-Gly.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GCCCCACGCGGCCCCCTCCACC	0.619																																						ENST00000405510.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						c.(1411-1413)gcgfs		Sad1 and UNC84 domain containing 2																																				SO:0001589	frameshift_variant	25777				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding	g.chr22:39135892_39135893insC	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.1413dupG	22.37:g.39135897_39135897dupC	ENSP00000385740:p.Gly471fs					SUN2_ENST00000406622.1_Frame_Shift_Ins_p.A471fs|SUN2_ENST00000216064.4_Frame_Shift_Ins_p.A471fs|SUN2_ENST00000411587.2_Frame_Shift_Ins_p.A460fs|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000405018.1_Frame_Shift_Ins_p.A492fs	p.A471fs	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN			14	1770_1771	-			471			Poly-Gly.		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Frame_Shift_Ins	INS	ENST00000405510.1	37	c.1412_1413insG	CCDS13978.1																																																																																				0.619	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		48	247						48	247	---	---	---	---
ZC3H7B	23264	broad.mit.edu	37	22	41752381	41752382	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:41752381_41752382insA	ENST00000352645.4	+	21	2675_2676	c.2418_2419insA	c.(2419-2421)aaafs	p.K807fs	ZC3H7B_ENST00000351589.4_Frame_Shift_Ins_p.K807fs	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	823					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACATGTGGCTGAAAAAACACAA	0.589																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(2416-2421)ctaaaafs		zinc finger CCCH-type containing 7B																																				SO:0001589	frameshift_variant	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41752381_41752382insA		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2424dupA	22.37:g.41752387_41752387dupA	ENSP00000345793:p.Lys807fs					ZC3H7B_ENST00000351589.4_Frame_Shift_Ins_p.LK806fs	p.LK806fs	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			21	2675_2676	+			822					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Frame_Shift_Ins	INS	ENST00000352645.4	37	c.2418_2419insA	CCDS14013.1																																																																																				0.589	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		58	231						58	231	---	---	---	---
PHF5A	84844	broad.mit.edu	37	22	41856422	41856423	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:41856422_41856423insT	ENST00000216252.3	-	4	383_384	c.312_313insA	c.(310-315)aaatacfs	p.Y105fs	PHF5A_ENST00000491254.1_5'Flank	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	105					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|U12-type spliceosomal complex (GO:0005689)|U2 snRNP (GO:0005686)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TTGAAGCCGTATTTTTTGCGTT	0.485																																					Ovarian(15;130 571 1826 2981 46141)	ENST00000216252.3																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(310-315)aaacggfs		PHD finger protein 5A																																				SO:0001589	frameshift_variant	84844				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41856422_41856423insT	BC007321	CCDS14016.1	22q13.2	2014-02-14			ENSG00000100410	ENSG00000100410		"""Zinc fingers, PHD-type"""	18000	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 7"""					12054543, 12234937, 18076038	Standard	NM_032758		Approved	MGC1346, SF3b14b, INI, bK223H9.2, Rds3, SAP14b, SF3B7	uc003bab.3	Q7RTV0	OTTHUMG00000150966	ENST00000216252.3:c.313dupA	22.37:g.41856428_41856428dupT	ENSP00000216252:p.Tyr105fs						p.R105fs	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN			4	383_384	-			105					Q9UH06	Frame_Shift_Ins	INS	ENST00000216252.3	37	c.312_313insA	CCDS14016.1																																																																																				0.485	PHF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320686.1	NM_032758		18	146						18	146	---	---	---	---
XRCC6	2547	broad.mit.edu	37	22	42024155	42024155	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:42024155delT	ENST00000359308.4	+	2	771	c.116delT	c.(115-117)attfs	p.I39fs	XRCC6_ENST00000402580.3_Frame_Shift_Del_p.I39fs|XRCC6_ENST00000405878.1_Frame_Shift_Del_p.I39fs|XRCC6_ENST00000360079.3_Frame_Shift_Del_p.I39fs|XRCC6_ENST00000405506.1_Intron|XRCC6_ENST00000428575.2_Intron			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	39	Ser-rich (potentially targets for phosphorylation).				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GATAGTTTGATTTTTTTGGTT	0.333								Non-homologous end-joining																														ENST00000359308.4																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(115-117)atfs	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							111.0	106.0	108.0					22																	42024155		2203	4300	6503	SO:0001589	frameshift_variant	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42024155delT	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.116delT	22.37:g.42024155delT	ENSP00000352257:p.Ile39fs					XRCC6_ENST00000405506.1_Intron|XRCC6_ENST00000360079.3_Frame_Shift_Del_p.I39fs|XRCC6_ENST00000405878.1_Frame_Shift_Del_p.I39fs|XRCC6_ENST00000402580.3_Frame_Shift_Del_p.I39fs|XRCC6_ENST00000428575.2_Intron	p.I39fs			P12956	XRCC6_HUMAN			2	771	+			39			Ser-rich (potentially targets for phosphorylation).		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Frame_Shift_Del	DEL	ENST00000359308.4	37	c.116delT	CCDS14021.1																																																																																				0.333	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		20	88						20	88	---	---	---	---
SERHL	94009	broad.mit.edu	37	22	42898666	42898666	+	RNA	DEL	C	C	-	rs375411583	byFrequency	TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chr22:42898666delC	ENST00000359906.2	+	0	409					NR_027786.1		Q9NQF3	SERHL_HUMAN	serine hydrolase-like								hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)	2						CCATATGGTGCCCCCCCCCCA	0.592													|||unknown(HR)	137	0.0273562	0.0348	0.0288	5008	,	,		27362	0.0268		0.0129	False		,,,				2504	0.0317					ENST00000359906.2																			0				endometrium(1)|large_intestine(1)	2								serine hydrolase-like				58,659,3511		2,0,54,4,651,1403						0.9	0.1			70	152,913,7063		5,1,141,0,912,3005	no	intergenic				7,1,195,4,1563,4408	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1029,16.9584,14.4221				210,1572,10574						94009							g.chr22:42898666delC	AL365513		22q13.2-q13.31	2009-10-06				ENSG00000172250			14408	protein-coding gene	gene with protein product	"""kraken-like"""	607979				11352564	Standard	NR_027786		Approved	HS126B42, BK126B4.1, dJ222E13.1	uc021wql.1	Q9NQF3			22.37:g.42898666delC								NR_027786.1						0	409	+								Q5JZ95|Q9UH21	RNA	DEL	ENST00000359906.2	37																																																																																						0.592	SERHL-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000320498.2	NM_170694		7	9						7	9	---	---	---	---
SLC25A6	293	broad.mit.edu	37	X	1508487	1508487	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:1508487delA	ENST00000381401.5	-	2	959	c.245delT	c.(244-246)ttcfs	p.F82fs	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	82					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TTGAGTGGGGAAGTAGCGAAT	0.572																																						ENST00000381401.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.(244-246)tcfs		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)						276.0	256.0	263.0					X																	1508487		2203	4296	6499	SO:0001589	frameshift_variant	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508487delA	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.245delT	X.37:g.1508487delA	ENSP00000370808:p.Phe82fs					SLC25A6_ENST00000475167.1_5'UTR	p.F82fs	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN			2	959	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	82					Q96C49	Frame_Shift_Del	DEL	ENST00000381401.5	37	c.245delT	CCDS14114.1																																																																																				0.572	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		10	364						10	364	---	---	---	---
OFD1	8481	broad.mit.edu	37	X	13764946	13764946	+	Frame_Shift_Del	DEL	A	A	-	rs312262846|rs312262847|rs312262848		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:13764946delA	ENST00000340096.6	+	8	1029	c.702delA	c.(700-702)gcafs	p.A234fs	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Frame_Shift_Del_p.A94fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	234					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AAATGGAAGCAAAAAAAAAGT	0.299																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(280-282)gcfs		oral-facial-digital syndrome 1				31,3690		0,25,6,1567,531	48.0	47.0	47.0			4.2	1.0	X		47	88,6391		4,29,51,2322,1718	no	frameshift	OFD1	NM_003611.2		4,54,57,3889,2249	A1A1,A1R,A1,RR,R		1.3582,0.8331,1.1667			13764946	119,10081	2203	4298	6501	SO:0001589	frameshift_variant	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13764946delA	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.702delA	X.37:g.13764946delA	ENSP00000344314:p.Ala234fs					OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs	p.A94fs			O75665	OFD1_HUMAN			9	1154	+			234			LisH.		B9ZVU5|O75666|Q4VAK4	Frame_Shift_Del	DEL	ENST00000340096.6	37	c.282delA	CCDS14157.1																																																																																				0.299	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		31	29						31	29	---	---	---	---
NHS	4810	broad.mit.edu	37	X	17746019	17746019	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:17746019delA	ENST00000380060.3	+	6	4068	c.3730delA	c.(3730-3732)aaafs	p.K1244fs	NHS_ENST00000398097.3_Frame_Shift_Del_p.K1088fs	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1265					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CACGCCAACCAAAAACTGTGC	0.443																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(3730-3732)aafs		Nance-Horan syndrome (congenital cataracts and dental anomalies)							92.0	88.0	89.0					X																	17746019		2203	4300	6503	SO:0001589	frameshift_variant	4810					nucleus		g.chrX:17746019delA		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3730delA	X.37:g.17746019delA	ENSP00000369400:p.Lys1244fs					NHS_ENST00000398097.3_Frame_Shift_Del_p.K1088fs	p.K1244fs	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			6	4068	+	Hepatocellular(33;0.183)		1244					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Frame_Shift_Del	DEL	ENST00000380060.3	37	c.3730delA	CCDS14181.1																																																																																				0.443	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		46	55						46	55	---	---	---	---
XK	7504	broad.mit.edu	37	X	37587562	37587562	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:37587562delT	ENST00000378616.3	+	3	1385	c.1182delT	c.(1180-1182)tgtfs	p.C394fs	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	394					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GGCTCAGGTGTTTTTGCTGGG	0.458																																						ENST00000378616.3																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1180-1182)tgfs		X-linked Kx blood group (McLeod syndrome)							79.0	77.0	78.0					X																	37587562		2202	4300	6502	SO:0001589	frameshift_variant	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37587562delT	Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.1182delT	X.37:g.37587562delT	ENSP00000367879:p.Cys394fs					TM4SF2_ENST00000465127.1_Intron	p.C394fs	NM_021083.2	NP_066569.1	P51811	XK_HUMAN			3	1385	+		all_lung(315;0.175)	394					Q4TTN6|Q8IUK6|Q9UC77	Frame_Shift_Del	DEL	ENST00000378616.3	37	c.1182delT	CCDS14241.1																																																																																				0.458	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		24	30						24	30	---	---	---	---
CLCN5	1184	broad.mit.edu	37	X	49840518	49840518	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:49840518delG	ENST00000307367.2	+	4	565	c.274delG	c.(274-276)gggfs	p.G93fs	CLCN5_ENST00000376091.3_Frame_Shift_Del_p.G163fs|CLCN5_ENST00000376108.3_Frame_Shift_Del_p.G93fs|CLCN5_ENST00000376088.3_Frame_Shift_Del_p.G163fs			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	93					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TATATGCACAGGGGGATTCTG	0.458																																						ENST00000376088.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.(484-486)ggfs		chloride channel, voltage-sensitive 5							154.0	135.0	141.0					X																	49840518		2203	4300	6503	SO:0001589	frameshift_variant	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49840518delG	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.274delG	X.37:g.49840518delG	ENSP00000304257:p.Gly93fs					CLCN5_ENST00000307367.2_Frame_Shift_Del_p.G93fs|CLCN5_ENST00000376108.3_Frame_Shift_Del_p.G93fs|CLCN5_ENST00000376091.3_Frame_Shift_Del_p.G163fs	p.G163fs	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN			7	1125	+	Ovarian(276;0.236)		93					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Frame_Shift_Del	DEL	ENST00000307367.2	37	c.484delG	CCDS14328.1																																																																																				0.458	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			34	38						34	38	---	---	---	---
TSIX	9383	broad.mit.edu	37	X	73045191	73045191	+	lincRNA	DEL	T	T	-			TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:73045191delT	ENST00000604411.1	+	0	33152				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GAAAGAGCACTTTTTTATGCT	0.328																																						ENST00000604411.1																			0																				49.0	52.0	51.0					X																	73045191		876	1989	2865			9383							g.chrX:73045191delT			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73045191delT						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	33152	+									RNA	DEL	ENST00000604411.1	37																																																																																						0.328	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		16	16						16	16	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73071846	73071846	+	lincRNA	DEL	A	A	-	rs200290800		TCGA-F7-A624-01A-22D-A30E-08	TCGA-F7-A624-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e11fa84c-c4e9-41bc-8b46-48be0444880a	91726c6b-a3b7-4cbc-9e8f-990a0824147e	g.chrX:73071846delA	ENST00000429829.1	-	0	742					NR_001564.2				X inactive specific transcript (non-protein coding)																		ATGGGCGATGAAAAAAAAAAA	0.413																																						ENST00000429829.1																			0																				25.0	25.0	25.0					X																	73071846		876	1990	2866			7503							g.chrX:73071846delA	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071846delA								NR_001564.2						0	742	-									RNA	DEL	ENST00000429829.1	37																																																																																						0.413	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		6	10						6	10	---	---	---	---
